protid	gene	pos	refAA	altAA	transcript	disease	segr	prd_mech_revised	cohort	pathogenic_infer	pathogenicity	gnomAD_AF	confidence	diseaseorig	maf_interpretation	LQT_penetrance	BrS_penetrance	used_in_functional_prediction	used_in_pathogenicity_prediction	pmid_publication
CACNA1A:2:A:V	CACNA1A	2	A	V	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.576e-05	2	not specified	unknown	NA	NA	0	0	VariationID_422504
CACNA1A:7:E:K	CACNA1A	7	E	K	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:10:A:V	CACNA1A	10	A	V	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_422558
CACNA1A:21:A:V	CACNA1A	21	A	V	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Benign	0.0008541	3	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified	unknown	NA	NA	0	0	VariationID_385048
CACNA1A:74:V:F	CACNA1A	74	V	F	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:101:E:Q	CACNA1A	101	E	Q	ENST00000360228	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Pathogenic	0	1	Epileptic encephalopathy, early infantile, 42	maf_pathogenic	NA	NA	0	0	VariationID_254267
CACNA1A:101:E:Q	CACNA1A	101	E	Q	ENST00000360228	Epilepsy of infancy with migrating focal seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy of infancy with migrating focal seizures	maf_pathogenic	NA	NA	0	1	27476654
CACNA1A:110:A:V	CACNA1A	110	A	V	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_426786
CACNA1A:137:E:K	CACNA1A	137	E	K	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_372981
CACNA1A:147:E:K	CACNA1A	147	E	K	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	15483044
CACNA1A:153:I:T	CACNA1A	153	I	T	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_386980
CACNA1A:162:G:V	CACNA1A	162	G	V	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	27066515
CACNA1A:176:V:L	CACNA1A	176	V	L	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified	maf_pathogenic	NA	NA	0	0	VariationID_384320
CACNA1A:176:V:M	CACNA1A	176	V	M	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_426878
CACNA1A:192:R:Q	CACNA1A	192	R	Q	ENST00000360228	Familial hemiplegic migraine type 1	NA	gof	clinvar	unknown	Pathogenic	0	1	Familial hemiplegic migraine type 1	maf_pathogenic	NA	NA	0	0	VariationID_8487
CACNA1A:192:R:Q	CACNA1A	192	R	Q	ENST00000360228	Hemiplegic migraine and episodic ataxia 2	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine and episodic ataxia 2	maf_pathogenic	NA	NA	0	1	8898206,19242091,25716839,22144569,19104150,22836594,22956801,10024348,24583041,24583041,25481823,26208839,9488686,20735819,15003170,23985897,18581134
CACNA1A:192:R:W	CACNA1A	192	R	W	ENST00000360228	Cerebellar ataxia;Dysarthria;Intention tremor;Mild global developmental delay;Spastic paraparesis	NA	unknown	clinvar	unknown	Likely pathogenic	0	1	Cerebellar ataxia;Dysarthria;Intention tremor;Mild global developmental delay;Spastic paraparesis	maf_pathogenic	NA	NA	0	0	VariationID_373933
CACNA1A:192:R:W	CACNA1A	192	R	W	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	25473036
CACNA1A:193:T:M	CACNA1A	193	T	M	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_446934
CACNA1A:195:R:K	CACNA1A	195	R	K	ENST00000360228	Familial hemiplegic migraine type 1	NA	gof	clinvar	unknown	not provided	0	1	Familial hemiplegic migraine type 1	maf_pathogenic	NA	NA	0	0	VariationID_68439
CACNA1A:195:R:K	CACNA1A	195	R	K	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	11439943
CACNA1A:198:R:G	CACNA1A	198	R	G	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_281747
CACNA1A:198:R:Q	CACNA1A	198	R	Q	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_210556
CACNA1A:201:R:L	CACNA1A	201	R	L	ENST00000360228	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
CACNA1A:201:R:L	CACNA1A	201	R	L	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:202:P:A	CACNA1A	202	P	A	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:202:P:Q	CACNA1A	202	P	Q	ENST00000360228	ID_E	de novo, mother mosaic	lof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	NA
CACNA1A:204:K:Q	CACNA1A	204	K	Q	ENST00000360228	ID_E	de novo	lof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	NA
CACNA1A:204:K:Q	CACNA1A	204	K	Q	ENST00000360228	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
CACNA1A:204:K:Q	CACNA1A	204	K	Q	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:211:S:N	CACNA1A	211	S	N	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_426949
CACNA1A:215:V:I	CACNA1A	215	V	I	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified	maf_pathogenic	NA	NA	0	0	VariationID_446940
CACNA1A:218:S:L	CACNA1A	218	S	L	ENST00000360228	Episodic ataxia type 2;Familial hemiplegic migraine type 1	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Episodic ataxia type 2;Familial hemiplegic migraine type 1	maf_pathogenic	NA	NA	0	1	VariationID_8504
CACNA1A:218:S:L	CACNA1A	218	S	L	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	11409427,19242091,24498617,19438926,24849341,25716839,22144569,19104150,23115190,26208839,27476654,26814174,15743764,28007337,20186955,25741235,23985897,18581134,21824570,20071244
CACNA1A:225:P:H	CACNA1A	225	P	H	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	22784462
CACNA1A:227:L:R	CACNA1A	227	L	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_386109
CACNA1A:230:G:S	CACNA1A	230	G	S	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_476276
CACNA1A:230:G:V	CACNA1A	230	G	V	ENST00000360228	ID_E	de novo	unknown	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	0	1	NA
CACNA1A:231:L:R	CACNA1A	231	L	R	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:248:Y:C	CACNA1A	248	Y	C	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	unknown	not provided	0	1	Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_68441
CACNA1A:248:Y:C	CACNA1A	248	Y	C	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	18602318
CACNA1A:249:M:V	CACNA1A	249	M	V	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	4.065e-06	2	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_476277
CACNA1A:253:H:Y	CACNA1A	253	H	Y	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Episodic ataxia type 2	maf_pathogenic	NA	NA	1	1	VariationID_68442
CACNA1A:253:H:Y	CACNA1A	253	H	Y	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	12420090
CACNA1A:254:T:A	CACNA1A	254	T	A	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:256:C:R	CACNA1A	256	C	R	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	unknown	not provided	0	1	Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_68443
CACNA1A:256:C:R	CACNA1A	256	C	R	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	15173248
CACNA1A:266:G:S	CACNA1A	266	G	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Likely benign	0.0003014	3	not specified	unknown	NA	NA	0	0	VariationID_287410
CACNA1A:266:G:S	CACNA1A	266	G	S	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003014	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:272:C:Y	CACNA1A	272	C	Y	ENST00000360228	Paroxysmal tonic upward gaze	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Paroxysmal tonic upward gaze	maf_pathogenic	NA	NA	0	1	25596066,27572814
CACNA1A:278:A:S	CACNA1A	278	A	S	ENST00000360228	CADASIL	NA	unknown	hgmd	unknown	DM	0	1	CADASIL	maf_pathogenic	NA	NA	0	0	27881154
CACNA1A:278:A:V	CACNA1A	278	A	V	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_423662
CACNA1A:279:R:C	CACNA1A	279	R	C	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	27066515
CACNA1A:287:C:Y	CACNA1A	287	C	Y	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	unknown	Pathogenic	0	1	Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_8511
CACNA1A:287:C:Y	CACNA1A	287	C	Y	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	14718690,15985579
CACNA1A:293:G:R	CACNA1A	293	G	R	ENST00000360228	Episodic ataxia type 2;Spinocerebellar ataxia 6	NA	lof	clinvar	unknown	Pathogenic	0	1	Episodic ataxia type 2;Spinocerebellar ataxia 6	maf_pathogenic	NA	NA	0	0	VariationID_8496
CACNA1A:293:G:R	CACNA1A	293	G	R	ENST00000360228	Spinocerebellar ataxia 6	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Spinocerebellar ataxia 6	maf_pathogenic	NA	NA	0	1	9345107,15985579,11742003
CACNA1A:294:P:S	CACNA1A	294	P	S	ENST00000360228	Cerebellar ataxia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cerebellar ataxia	maf_pathogenic	NA	NA	0	1	28444220
CACNA1A:297:G:R	CACNA1A	297	G	R	ENST00000360228	Episodic ataxia%2C global developmental delay%2C and migraine	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia%2C global developmental delay%2C and migraine	maf_pathogenic	NA	NA	0	1	26814174,28431595
CACNA1A:301:F:L	CACNA1A	301	F	L	ENST00000360228	Cerebellar ataxia	NA	unknown	hgmd	unknown	DM	0	1	Cerebellar ataxia	maf_pathogenic	NA	NA	0	0	25133958
CACNA1A:302:D:N	CACNA1A	302	D	N	ENST00000360228	Episodic ataxia type 2;Spinocerebellar ataxia 6	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Episodic ataxia type 2;Spinocerebellar ataxia 6	maf_pathogenic	NA	NA	1	1	VariationID_216896
CACNA1A:302:D:N	CACNA1A	302	D	N	ENST00000360228	Spinocerebellar ataxia 6	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Spinocerebellar ataxia 6	maf_pathogenic	NA	NA	0	1	24486772,27871455
CACNA1A:345:I:M	CACNA1A	345	I	M	ENST00000360228	DEE	segr_w_disease	lof	Heyneetal_GiM19_DNV	unknown	unknown	NA	NA	NA	NA	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:345:I:M	CACNA1A	345	I	M	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:347:G:S	CACNA1A	347	G	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_434561
CACNA1A:354:L:F	CACNA1A	354	L	F	ENST00000360228	ID_E	de novo	lof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	VariationID_437417
CACNA1A:354:L:F	CACNA1A	354	L	F	ENST00000360228	ID_E	de novo	lof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	VariationID_437417
CACNA1A:354:L:F	CACNA1A	354	L	F	ENST00000360228	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
CACNA1A:354:L:F	CACNA1A	354	L	F	ENST00000360228	Familial hemiplegic migraine type 1;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Familial hemiplegic migraine type 1;not specified	maf_pathogenic	NA	NA	0	0	VariationID_437417
CACNA1A:354:L:F	CACNA1A	354	L	F	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:358:V:M	CACNA1A	358	V	M	ENST00000360228	FHM, no ID	de novo	gof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	NA
CACNA1A:363:F:S	CACNA1A	363	F	S	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	20837964,28717674
CACNA1A:369:R:W	CACNA1A	369	R	W	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_392363
CACNA1A:381:R:W	CACNA1A	381	R	W	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.498e-05	2	not specified	unknown	NA	NA	0	0	VariationID_434560
CACNA1A:387:R:G	CACNA1A	387	R	G	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	27066515
CACNA1A:388:E:K	CACNA1A	388	E	K	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	21696515
CACNA1A:389:L:F	CACNA1A	389	L	F	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	unknown	not provided	0	1	Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_68418
CACNA1A:389:L:F	CACNA1A	389	L	F	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	20129625
CACNA1A:390:N:K	CACNA1A	390	N	K	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.123e-06	2	not specified	unknown	NA	NA	0	0	VariationID_286277
CACNA1A:390:N:K	CACNA1A	390	N	K	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.123e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:390:N:S	CACNA1A	390	N	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_421965
CACNA1A:391:G:R	CACNA1A	391	G	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.123e-06	2	not specified	unknown	NA	NA	0	0	VariationID_426536
CACNA1A:405:A:T	CACNA1A	405	A	T	ENST00000360228	Episodic ataxia type 2;not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.165e-06	2	Episodic ataxia type 2;not specified	unknown	NA	NA	0	0	VariationID_68419
CACNA1A:405:A:T	CACNA1A	405	A	T	ENST00000360228	Spinocerebellar ataxia 6	NA	unknown	hgmd	unknown	DM	8.165e-06	2	Spinocerebellar ataxia 6	unknown	NA	NA	0	0	20682717
CACNA1A:405:A:T	CACNA1A	405	A	T	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.165e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:409:T:P	CACNA1A	409	T	P	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.078e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_420347
CACNA1A:411:G:W	CACNA1A	411	G	W	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	27066515
CACNA1A:423:T:S	CACNA1A	423	T	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_446902
CACNA1A:450:S:P	CACNA1A	450	S	P	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_434559
CACNA1A:453:A:T	CACNA1A	453	A	T	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Benign/Likely benign	0.004551	3	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not provided;not specified	unknown	NA	NA	0	0	VariationID_68420
CACNA1A:453:A:T	CACNA1A	453	A	T	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	unknown	DM	0.004551	2	Episodic ataxia 2	unknown	NA	NA	0	0	17292920,20080591,24996492
CACNA1A:453:A:T	CACNA1A	453	A	T	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.004551	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:454:R:Q	CACNA1A	454	R	Q	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.26e-05	3	not specified	unknown	NA	NA	0	0	VariationID_392083
CACNA1A:454:R:Q	CACNA1A	454	R	Q	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	unknown	DM	3.26e-05	2	Episodic ataxia 2	unknown	NA	NA	0	0	28540055
CACNA1A:454:R:Q	CACNA1A	454	R	Q	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.26e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:476:R:H	CACNA1A	476	R	H	ENST00000360228	Epilepsy%2C idiopathic	NA	unknown	hgmd	unknown	DM	2.44e-05	2	Epilepsy%2C idiopathic	unknown	NA	NA	0	0	21703448
CACNA1A:480:R:C	CACNA1A	480	R	C	ENST00000360228	DD_noE	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_noE	maf_pathogenic	NA	NA	1	1	29942082
CACNA1A:500:T:M	CACNA1A	500	T	M	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	unknown	not provided	4.066e-06	1	Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_68421
CACNA1A:500:T:M	CACNA1A	500	T	M	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	4.066e-06	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	20129625,24498617,24498617,28566750
CACNA1A:520:Y:C	CACNA1A	520	Y	C	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.924e-06	2	not specified	unknown	NA	NA	0	0	VariationID_265063
CACNA1A:532:E:K	CACNA1A	532	E	K	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_420057
CACNA1A:532:E:K	CACNA1A	532	E	K	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	16583725,24445160,N/A
CACNA1A:539:G:R	CACNA1A	539	G	R	ENST00000360228	Episodic ataxia	NA	lof	hgmd	unknown	DM	0	1	Episodic ataxia	maf_pathogenic	NA	NA	0	0	20156848
CACNA1A:564:E:K	CACNA1A	564	E	K	ENST00000360228	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
CACNA1A:564:E:K	CACNA1A	564	E	K	ENST00000360228	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_374438
CACNA1A:564:E:K	CACNA1A	564	E	K	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:580:V:E	CACNA1A	580	V	E	ENST00000360228	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_425163
CACNA1A:580:V:L	CACNA1A	580	V	L	ENST00000360228	Hemiplegic migraine%2C cerebellar dysfunction & cognitive decline	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine%2C cerebellar dysfunction & cognitive decline	maf_pathogenic	NA	NA	0	1	21035146
CACNA1A:580:V:M	CACNA1A	580	V	M	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	18644040,21431381
CACNA1A:582:R:Q	CACNA1A	582	R	Q	ENST00000360228	Familial hemiplegic migraine type 1;Migraine, sporadic hemiplegic;Spinocerebellar ataxia 6;not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	4.066e-06	2	Familial hemiplegic migraine type 1;Migraine, sporadic hemiplegic;Spinocerebellar ataxia 6;not provided	maf_pathogenic	NA	NA	0	1	VariationID_8505
CACNA1A:582:R:Q	CACNA1A	582	R	Q	ENST00000360228	Hemiplegic migraine and ataxia	NA	unknown	hgmd	(Likely)pathogenic	DM	4.066e-06	2	Hemiplegic migraine and ataxia	maf_pathogenic	NA	NA	0	1	10408534,12707077,12707077,23407676,28717674,25969684,24498617,19624685,22527033,28900389,10734061,26814174
CACNA1A:588:R:C	CACNA1A	588	R	C	ENST00000360228	ID_E	de novo	lof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	NA
CACNA1A:607:L:F	CACNA1A	607	L	F	ENST00000360228	Hemiplegic migraine and chronic headache	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine and chronic headache	maf_pathogenic	NA	NA	1	1	26814174
CACNA1A:616:L:V	CACNA1A	616	L	V	ENST00000360228	Paroxysmal head tremor%2C adult-onset	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Paroxysmal head tremor%2C adult-onset	maf_pathogenic	NA	NA	0	1	23696109
CACNA1A:620:L:R	CACNA1A	620	L	R	ENST00000360228	Episodic ataxia	NA	lof	hgmd	unknown	DM	0	1	Episodic ataxia	maf_pathogenic	NA	NA	0	0	20156848
CACNA1A:630:L:S	CACNA1A	630	L	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_383243
CACNA1A:637:G:D	CACNA1A	637	G	D	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	unknown	not provided	0	1	Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_68422
CACNA1A:637:G:D	CACNA1A	637	G	D	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	19232643,28566750
CACNA1A:665:T:M	CACNA1A	665	T	M	ENST00000360228	Episodic ataxia type 2;Familial hemiplegic migraine type 1;Migraine, sporadic hemiplegic, with progressive cerebellar ataxia;not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	4.087e-06	3	Episodic ataxia type 2;Familial hemiplegic migraine type 1;Migraine, sporadic hemiplegic, with progressive cerebellar ataxia;not provided	maf_pathogenic	NA	NA	0	1	VariationID_8488
CACNA1A:665:T:M	CACNA1A	665	T	M	ENST00000360228	Hemiplegic migraine and episodic ataxia 2	NA	unknown	hgmd	(Likely)pathogenic	DM	4.087e-06	2	Hemiplegic migraine and episodic ataxia 2	maf_pathogenic	NA	NA	0	1	8898206,28717674,24498617,22969264,18279427,25266619,10024348,28169007,9488686,22000314,22136990,27290639,11971066,22190617,25274239,25274239,24270521,11814735
CACNA1A:665:T:M	CACNA1A	665	T	M	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.087e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:667:E:A	CACNA1A	667	E	A	ENST00000360228	Head tremor	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Head tremor	maf_pathogenic	NA	NA	0	1	21768184
CACNA1A:667:E:K	CACNA1A	667	E	K	ENST00000360228	Spinocerebellar ataxia 6	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Spinocerebellar ataxia 6	maf_pathogenic	NA	NA	0	1	24486772
CACNA1A:668:D:E	CACNA1A	668	D	E	ENST00000360228	DD_E	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	1	1	29942082
CACNA1A:671:E:K	CACNA1A	671	E	K	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_476237
CACNA1A:673:M:T	CACNA1A	673	M	T	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_422842
CACNA1A:676:G:R	CACNA1A	676	G	R	ENST00000360228	Cerebellar ataxia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cerebellar ataxia	maf_pathogenic	NA	NA	0	1	28444220
CACNA1A:682:G:V	CACNA1A	682	G	V	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_392763
CACNA1A:686:G:S	CACNA1A	686	G	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_422231
CACNA1A:686:G:S	CACNA1A	686	G	S	ENST00000360228	Cerebellar ataxia	NA	unknown	hgmd	unknown	DM	0	1	Cerebellar ataxia	maf_pathogenic	NA	NA	0	0	28444220
CACNA1A:688:V:L	CACNA1A	688	V	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_429800
CACNA1A:705:L:Q	CACNA1A	705	L	Q	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:707:V:M	CACNA1A	707	V	M	ENST00000360228	ID_E	de novo	lof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	NA
CACNA1A:708:F:L	CACNA1A	708	F	L	ENST00000360228	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Epileptic encephalopathy, early infantile, 42	maf_pathogenic	NA	NA	0	0	VariationID_520398
CACNA1A:708:F:L	CACNA1A	708	F	L	ENST00000360228	DD_E	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	1	1	29942082
CACNA1A:709:L:F	CACNA1A	709	L	F	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_280448
CACNA1A:710:A:T	CACNA1A	710	A	T	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:711:I:M	CACNA1A	711	I	M	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_450171
CACNA1A:711:I:V	CACNA1A	711	I	V	ENST00000360228	Episodic seizures%2C ataxia%2C and migraine with motor regression	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Episodic seizures%2C ataxia%2C and migraine with motor regression	maf_pathogenic	NA	NA	0	1	18940563
CACNA1A:712:A:T	CACNA1A	712	A	T	ENST00000360228	EE+Hemiconvulsion	de novo	gof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	23934111,28455667,27476654
CACNA1A:712:A:T	CACNA1A	712	A	T	ENST00000360228	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Epileptic encephalopathy, early infantile, 42;Inborn genetic diseases;not provided	maf_pathogenic	NA	NA	0	1	VariationID_254268
CACNA1A:712:A:T	CACNA1A	712	A	T	ENST00000360228	Lennox-Gastaut syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Lennox-Gastaut syndrome	maf_pathogenic	NA	NA	0	1	23934111,28455667,27476654
CACNA1A:713:V:A	CACNA1A	713	V	A	ENST00000360228	Familial hemiplegic migraine type 1	NA	gof	clinvar	unknown	Pathogenic	0	1	Familial hemiplegic migraine type 1	maf_pathogenic	NA	NA	0	0	VariationID_8489
CACNA1A:713:V:A	CACNA1A	713	V	A	ENST00000360228	Hemiplegic migraine and episodic ataxia 2	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine and episodic ataxia 2	maf_pathogenic	NA	NA	0	1	8898206,10024348,9488686
CACNA1A:713:V:M	CACNA1A	713	V	M	ENST00000360228	Abnormality of the nervous system	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Abnormality of the nervous system	maf_pathogenic	NA	NA	0	1	26633542
CACNA1A:714:D:E	CACNA1A	714	D	E	ENST00000360228	Familial hemiplegic migraine type 1	NA	gof	clinvar	unknown	Pathogenic	0	1	Familial hemiplegic migraine type 1	maf_pathogenic	NA	NA	0	0	VariationID_8497
CACNA1A:714:D:E	CACNA1A	714	D	E	ENST00000360228	Familial hemiplegic migraine type 1	NA	gof	clinvar	unknown	not provided	0	1	Familial hemiplegic migraine type 1	maf_pathogenic	NA	NA	0	0	VariationID_68423
CACNA1A:714:D:E	CACNA1A	714	D	E	ENST00000360228	Hemiplegic migraine%2C progressive cerebellar ataxia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine%2C progressive cerebellar ataxia	maf_pathogenic	NA	NA	0	1	9915947,10734061
CACNA1A:715:N:T	CACNA1A	715	N	T	ENST00000360228	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Epileptic encephalopathy, early infantile, 42	maf_pathogenic	NA	NA	0	1	VariationID_488475
CACNA1A:731:E:A	CACNA1A	731	E	A	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Benign/Likely benign	0.01059	3	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified	unknown	NA	NA	0	0	VariationID_128547
CACNA1A:731:E:A	CACNA1A	731	E	A	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.01059	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:753:A:V	CACNA1A	753	A	V	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.843e-05	2	not specified	unknown	NA	NA	0	0	VariationID_423741
CACNA1A:763:Q:K	CACNA1A	763	Q	K	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:764:Q:H	CACNA1A	764	Q	H	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.277e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_392614
CACNA1A:764:Q:R	CACNA1A	764	Q	R	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:779:S:C	CACNA1A	779	S	C	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:779:S:T	CACNA1A	779	S	T	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:797:M:I	CACNA1A	797	M	I	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.241e-06	2	not specified	unknown	NA	NA	0	0	VariationID_446910
CACNA1A:797:M:T	CACNA1A	797	M	T	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	unknown	not provided	4.123e-06	1	Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_68424
CACNA1A:797:M:T	CACNA1A	797	M	T	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	4.123e-06	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	20129625
CACNA1A:798:D:V	CACNA1A	798	D	V	ENST00000360228	Amyotrophic lateral sclerosis;Cerebellar ataxia;Chorea	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Amyotrophic lateral sclerosis;Cerebellar ataxia;Chorea	maf_pathogenic	NA	NA	0	0	VariationID_397544
CACNA1A:802:R:S	CACNA1A	802	R	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.519e-05	2	not specified	unknown	NA	NA	0	0	VariationID_423150
CACNA1A:802:R:S	CACNA1A	802	R	S	ENST00000360228	Ataxia%2C adult-onset	NA	unknown	hgmd	unknown	DM	4.519e-05	2	Ataxia%2C adult-onset	unknown	NA	NA	0	0	28455667
CACNA1A:812:R:Q	CACNA1A	812	R	Q	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.082e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_387225
CACNA1A:812:R:Q	CACNA1A	812	R	Q	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.082e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:825:V:M	CACNA1A	825	V	M	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:828:Q:R	CACNA1A	828	Q	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.63e-05	2	not specified	unknown	NA	NA	0	0	VariationID_373648
CACNA1A:828:Q:R	CACNA1A	828	Q	R	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.63e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:834:N:T	CACNA1A	834	N	T	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	7.346e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:841:A:S	CACNA1A	841	A	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.247e-06	2	not specified	unknown	NA	NA	0	0	VariationID_385371
CACNA1A:869:R:P	CACNA1A	869	R	P	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:869:R:Q	CACNA1A	869	R	Q	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_373752
CACNA1A:873:G:R	CACNA1A	873	G	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_392594
CACNA1A:874:S:A	CACNA1A	874	S	A	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	9.754e-06	0	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not provided;not specified	unknown	NA	NA	0	0	VariationID_374436
CACNA1A:874:S:A	CACNA1A	874	S	A	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	9.754e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:874:S:L	CACNA1A	874	S	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_387488
CACNA1A:893:R:Q	CACNA1A	893	R	Q	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Benign/Likely benign	0.001013	3	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified	unknown	NA	NA	0	0	VariationID_283510
CACNA1A:896:P:R	CACNA1A	896	P	R	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.001095	0	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;Episodic ataxia type 2;not provided;not specified	unknown	NA	NA	0	0	VariationID_68425
CACNA1A:896:P:R	CACNA1A	896	P	R	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	unknown	DM	0.001095	2	Episodic ataxia 2	unknown	NA	NA	0	0	20129625
CACNA1A:896:P:R	CACNA1A	896	P	R	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001095	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:910:L:Q	CACNA1A	910	L	Q	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_422580
CACNA1A:910:L:R	CACNA1A	910	L	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.842e-05	2	not specified	unknown	NA	NA	0	0	VariationID_432090
CACNA1A:913:P:S	CACNA1A	913	P	S	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Benign/Likely benign	0.001426	3	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not provided;not specified	unknown	NA	NA	0	0	VariationID_128548
CACNA1A:917:E:D	CACNA1A	917	E	D	ENST00000360228	Episodic ataxia type 2;Familial hemiplegic migraine type 1;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.1264	3	Episodic ataxia type 2;Familial hemiplegic migraine type 1;not provided;not specified	unknown	NA	NA	0	0	VariationID_68426
CACNA1A:917:E:D	CACNA1A	917	E	D	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.1264	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:917:E:K	CACNA1A	917	E	K	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.635e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_450508
CACNA1A:922:R:L	CACNA1A	922	R	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_420907
CACNA1A:938:G:D	CACNA1A	938	G	D	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.357e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:938:G:R	CACNA1A	938	G	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.697e-05	2	not specified	unknown	NA	NA	0	0	VariationID_422044
CACNA1A:945:G:R	CACNA1A	945	G	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_452320
CACNA1A:945:G:R	CACNA1A	945	G	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.121e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_446912
CACNA1A:951:A:T	CACNA1A	951	A	T	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:951:A:V	CACNA1A	951	A	V	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_500995
CACNA1A:953:G:R	CACNA1A	953	G	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_373221
CACNA1A:956:R:L	CACNA1A	956	R	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001949	3	not specified	unknown	NA	NA	0	0	VariationID_422571
CACNA1A:956:R:Q	CACNA1A	956	R	Q	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_387404
CACNA1A:959:R:L	CACNA1A	959	R	L	ENST00000360228	Huntington-like disease	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Huntington-like disease	maf_pathogenic	NA	NA	0	1	27400454
CACNA1A:960:A:V	CACNA1A	960	A	V	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.875e-05	2	not specified	unknown	NA	NA	0	0	VariationID_426649
CACNA1A:964:P:S	CACNA1A	964	P	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_446913
CACNA1A:966:E:K	CACNA1A	966	E	K	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_423342
CACNA1A:970:E:G	CACNA1A	970	E	G	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_476246
CACNA1A:975:R:L	CACNA1A	975	R	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.704e-05	2	not specified	unknown	NA	NA	0	0	VariationID_453002
CACNA1A:987:R:P	CACNA1A	987	R	P	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_387025
CACNA1A:992:E:V	CACNA1A	992	E	V	ENST00000360228	Episodic ataxia type 2;Familial hemiplegic migraine type 1;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.1371	3	Episodic ataxia type 2;Familial hemiplegic migraine type 1;not provided;not specified	unknown	NA	NA	0	0	VariationID_68427
CACNA1A:992:E:V	CACNA1A	992	E	V	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.1371	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1006:R:W	CACNA1A	1006	R	W	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.512e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1009:A:T	CACNA1A	1009	A	T	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_432959
CACNA1A:1010:P:A	CACNA1A	1010	P	A	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Benign/Likely benign	0.003828	3	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified	unknown	NA	NA	0	0	VariationID_128550
CACNA1A:1010:P:A	CACNA1A	1010	P	A	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.003828	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1012:T:M	CACNA1A	1012	T	M	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	7.237e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1014:E:K	CACNA1A	1014	E	K	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.00348	0	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;Inborn genetic diseases;not provided;not specified	unknown	NA	NA	0	0	VariationID_194928
CACNA1A:1014:E:K	CACNA1A	1014	E	K	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.00348	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1015:G:R	CACNA1A	1015	G	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.423e-05	2	not specified	unknown	NA	NA	0	0	VariationID_391779
CACNA1A:1017:A:P	CACNA1A	1017	A	P	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_429455
CACNA1A:1017:A:T	CACNA1A	1017	A	T	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1021:D:E	CACNA1A	1021	D	E	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	1.41e-05	2	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	unknown	NA	NA	0	0	VariationID_476249
CACNA1A:1027:R:G	CACNA1A	1027	R	G	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_420304
CACNA1A:1031:E:G	CACNA1A	1031	E	G	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_288544
CACNA1A:1040:S:L	CACNA1A	1040	S	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.934e-05	2	not specified	unknown	NA	NA	0	0	VariationID_392867
CACNA1A:1040:S:L	CACNA1A	1040	S	L	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.934e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1043:N:K	CACNA1A	1043	N	K	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_446914
CACNA1A:1056:R:C	CACNA1A	1056	R	C	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002762	0	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified	unknown	NA	NA	0	0	VariationID_385634
CACNA1A:1056:R:H	CACNA1A	1056	R	H	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.247e-05	2	not specified	unknown	NA	NA	0	0	VariationID_446915
CACNA1A:1057:Q:P	CACNA1A	1057	Q	P	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_449906
CACNA1A:1059:P:S	CACNA1A	1059	P	S	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.528e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1060:P:R	CACNA1A	1060	P	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.234e-05	2	not specified	unknown	NA	NA	0	0	VariationID_434557
CACNA1A:1060:P:S	CACNA1A	1060	P	S	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	1.646e-05	2	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	unknown	NA	NA	0	0	VariationID_476250
CACNA1A:1071:N:K	CACNA1A	1071	N	K	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1076:A:T	CACNA1A	1076	A	T	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.621e-05	2	not specified	unknown	NA	NA	0	0	VariationID_429962
CACNA1A:1076:A:T	CACNA1A	1076	A	T	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.621e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1076:A:V	CACNA1A	1076	A	V	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.000193	0	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified	unknown	NA	NA	0	0	VariationID_385136
CACNA1A:1076:A:V	CACNA1A	1076	A	V	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.000193	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1079:A:D	CACNA1A	1079	A	D	ENST00000360228	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_425162
CACNA1A:1079:A:D	CACNA1A	1079	A	D	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1088:A:T	CACNA1A	1088	A	T	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	1.662e-05	2	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	unknown	NA	NA	0	0	VariationID_476251
CACNA1A:1089:G:C	CACNA1A	1089	G	C	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Likely benign	0.0003617	2	not specified	unknown	NA	NA	0	0	VariationID_391877
CACNA1A:1089:G:C	CACNA1A	1089	G	C	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003617	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1089:G:S	CACNA1A	1089	G	S	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.495e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1102:D:N	CACNA1A	1102	D	N	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Likely benign	0.0005097	2	not specified	unknown	NA	NA	0	0	VariationID_515148
CACNA1A:1102:D:N	CACNA1A	1102	D	N	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0005097	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1103:P:L	CACNA1A	1103	P	L	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001473	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1103:P:S	CACNA1A	1103	P	S	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1104:G:S	CACNA1A	1104	G	S	ENST00000360228	Episodic ataxia type 2;Familial hemiplegic migraine type 1;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.1086	3	Episodic ataxia type 2;Familial hemiplegic migraine type 1;not provided;not specified	unknown	NA	NA	0	0	VariationID_68428
CACNA1A:1104:G:S	CACNA1A	1104	G	S	ENST00000360228	Epilepsy%2C idiopathic	NA	unknown	hgmd	unknown	DM	0.1086	1	Epilepsy%2C idiopathic	unknown	NA	NA	0	0	21703448,27884173,20156848
CACNA1A:1104:G:S	CACNA1A	1104	G	S	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.1086	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1116:P:L	CACNA1A	1116	P	L	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.916e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1119:A:P	CACNA1A	1119	A	P	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_426909
CACNA1A:1119:A:T	CACNA1A	1119	A	T	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001717	0	not specified	unknown	NA	NA	0	0	VariationID_265064
CACNA1A:1122:R:H	CACNA1A	1122	R	H	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.733e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1123:R:Q	CACNA1A	1123	R	Q	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	7.562e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1124:T:M	CACNA1A	1124	T	M	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.41e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1128:P:L	CACNA1A	1128	P	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	9.685e-06	2	not specified	unknown	NA	NA	0	0	VariationID_446918
CACNA1A:1137:P:A	CACNA1A	1137	P	A	ENST00000360228	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1137:P:A	CACNA1A	1137	P	A	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0004327	0	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified	unknown	NA	NA	0	0	VariationID_195471
CACNA1A:1137:P:A	CACNA1A	1137	P	A	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0004327	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1137:P:R	CACNA1A	1137	P	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001164	2	not specified	unknown	NA	NA	0	0	VariationID_430288
CACNA1A:1137:P:R	CACNA1A	1137	P	R	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001164	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1138:K:R	CACNA1A	1138	K	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_391247
CACNA1A:1146:V:I	CACNA1A	1146	V	I	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.622e-05	3	not specified	unknown	NA	NA	0	0	VariationID_195470
CACNA1A:1153:Q:E	CACNA1A	1153	Q	E	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Likely benign	0.0003495	2	not specified	unknown	NA	NA	0	0	VariationID_383231
CACNA1A:1164:D:N	CACNA1A	1164	D	N	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	2.12e-05	2	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	unknown	NA	NA	0	0	VariationID_476254
CACNA1A:1174:C:G	CACNA1A	1174	C	G	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.14e-05	2	not specified	unknown	NA	NA	0	0	VariationID_451896
CACNA1A:1177:P:R	CACNA1A	1177	P	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	7.492e-05	2	not specified	unknown	NA	NA	0	0	VariationID_422250
CACNA1A:1177:P:T	CACNA1A	1177	P	T	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_385379
CACNA1A:1177:P:T	CACNA1A	1177	P	T	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1179:N:H	CACNA1A	1179	N	H	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_446919
CACNA1A:1182:V:I	CACNA1A	1182	V	I	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001783	0	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified	unknown	NA	NA	0	0	VariationID_476255
CACNA1A:1183:V:I	CACNA1A	1183	V	I	ENST00000360228	not provided	NA	unknown	clinvar	unknown	Uncertain significance	6.567e-05	1	not provided	unknown	NA	NA	0	0	VariationID_425161
CACNA1A:1183:V:I	CACNA1A	1183	V	I	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.567e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1192:D:N	CACNA1A	1192	D	N	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.745e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1202:K:E	CACNA1A	1202	K	E	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.231e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1209:R:L	CACNA1A	1209	R	L	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.205e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1210:G:E	CACNA1A	1210	G	E	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.231e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1211:E:D	CACNA1A	1211	E	D	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_452181
CACNA1A:1212:D:Y	CACNA1A	1212	D	Y	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.461e-05	2	not specified	unknown	NA	NA	0	0	VariationID_432567
CACNA1A:1213:G:S	CACNA1A	1213	G	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.641e-05	2	not specified	unknown	NA	NA	0	0	VariationID_497421
CACNA1A:1217:M:V	CACNA1A	1217	M	V	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.231e-05	2	not specified	unknown	NA	NA	0	0	VariationID_422133
CACNA1A:1219:P:L	CACNA1A	1219	P	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.205e-06	2	not specified	unknown	NA	NA	0	0	VariationID_393193
CACNA1A:1219:P:L	CACNA1A	1219	P	L	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.205e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1228:T:M	CACNA1A	1228	T	M	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_373657
CACNA1A:1234:R:H	CACNA1A	1234	R	H	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001503	2	not specified	unknown	NA	NA	0	0	VariationID_422169
CACNA1A:1243:R:C	CACNA1A	1243	R	C	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_393165
CACNA1A:1244:Y:C	CACNA1A	1244	Y	C	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	18644040,19189122
CACNA1A:1255:M:T	CACNA1A	1255	M	T	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_426475
CACNA1A:1262:A:T	CACNA1A	1262	A	T	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.125e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1263:E:K	CACNA1A	1263	E	K	ENST00000360228	Cerebellar ataxia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cerebellar ataxia	maf_pathogenic	NA	NA	0	1	28444220
CACNA1A:1268:P:L	CACNA1A	1268	P	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_387528
CACNA1A:1269:N:S	CACNA1A	1269	N	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.134e-06	2	not specified	unknown	NA	NA	0	0	VariationID_450696
CACNA1A:1272:R:W	CACNA1A	1272	R	W	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	4.07e-06	2	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_476256
CACNA1A:1272:R:W	CACNA1A	1272	R	W	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.07e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1304:Q:P	CACNA1A	1304	Q	P	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.252e-05	2	not specified	unknown	NA	NA	0	0	VariationID_446921
CACNA1A:1305:G:V	CACNA1A	1305	G	V	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1319:V:M	CACNA1A	1319	V	M	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1334:K:E	CACNA1A	1334	K	E	ENST00000360228	Familial hemiplegic migraine type 1	NA	gof	clinvar	unknown	not provided	0	1	Familial hemiplegic migraine type 1	maf_pathogenic	NA	NA	0	0	VariationID_68429
CACNA1A:1334:K:E	CACNA1A	1334	K	E	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	11439943,19242091,23430985
CACNA1A:1337:D:Y	CACNA1A	1337	D	Y	ENST00000360228	Cerebellar ataxia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cerebellar ataxia	maf_pathogenic	NA	NA	0	1	26814174
CACNA1A:1343:S:Y	CACNA1A	1343	S	Y	ENST00000360228	ID_noE	de novo (paternal mosaic)	lof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	NA
CACNA1A:1345:R:Q	CACNA1A	1345	R	Q	ENST00000360228	Familial hemiplegic migraine type 1;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Familial hemiplegic migraine type 1;not provided	maf_pathogenic	NA	NA	1	1	VariationID_8513
CACNA1A:1345:R:Q	CACNA1A	1345	R	Q	ENST00000360228	Hemiplegic migraine%2C progressive cerebellar ataxia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine%2C progressive cerebellar ataxia	maf_pathogenic	NA	NA	0	1	15032980,27435762
CACNA1A:1348:R:Q	CACNA1A	1348	R	Q	ENST00000360228	EE+Hemiconvulsion	de novo	gof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	20097664,28717674,25596066,21183743,23831250,26814174,28007337
CACNA1A:1348:R:Q	CACNA1A	1348	R	Q	ENST00000360228	Inborn genetic diseases;not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	3	Inborn genetic diseases;not provided	maf_pathogenic	NA	NA	0	1	VariationID_380972
CACNA1A:1348:R:Q	CACNA1A	1348	R	Q	ENST00000360228	Ataxia%2C mental retardation and dyskinesia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Ataxia%2C mental retardation and dyskinesia	maf_pathogenic	NA	NA	0	1	20097664,28717674,25596066,21183743,23831250,26814174,28007337
CACNA1A:1348:R:Q	CACNA1A	1348	R	Q	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1348:R:W	CACNA1A	1348	R	W	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_421023
CACNA1A:1349:V:L	CACNA1A	1349	V	L	ENST00000360228	Paroxysmal tonic upward gaze	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Paroxysmal tonic upward gaze	maf_pathogenic	NA	NA	0	1	25596066
CACNA1A:1351:R:L	CACNA1A	1351	R	L	ENST00000360228	CACNA1A-related condition;not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	3	CACNA1A-related condition;not provided	maf_pathogenic	NA	NA	0	1	VariationID_450236
CACNA1A:1352:P:L	CACNA1A	1352	P	L	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_420945
CACNA1A:1352:P:L	CACNA1A	1352	P	L	ENST00000360228	Hypotonia and developmental delay	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Hypotonia and developmental delay	maf_pathogenic	NA	NA	0	1	26739101,26944241,26739101
CACNA1A:1356:I:S	CACNA1A	1356	I	S	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_280312
CACNA1A:1358:R:W	CACNA1A	1358	R	W	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_448996
CACNA1A:1358:R:W	CACNA1A	1358	R	W	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	24091540,26863999
CACNA1A:1360:P:Q	CACNA1A	1360	P	Q	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_422469
CACNA1A:1366:F:I	CACNA1A	1366	F	I	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_379829
CACNA1A:1366:F:L	CACNA1A	1366	F	L	ENST00000360228	Nystagmus and late-onset ataxia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Nystagmus and late-onset ataxia	maf_pathogenic	NA	NA	0	1	19182766
CACNA1A:1368:C:R	CACNA1A	1368	C	R	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_280762
CACNA1A:1368:C:Y	CACNA1A	1368	C	Y	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	17142831,21768184
CACNA1A:1372:S:L	CACNA1A	1372	S	L	ENST00000360228	Encephalopathy%2C epileptic	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy%2C epileptic	maf_pathogenic	NA	NA	0	1	27212419
CACNA1A:1383:Y:C	CACNA1A	1383	Y	C	ENST00000360228	Familial hemiplegic migraine type 1	NA	gof	clinvar	unknown	Pathogenic	0	1	Familial hemiplegic migraine type 1	maf_pathogenic	NA	NA	0	0	VariationID_8499
CACNA1A:1383:Y:C	CACNA1A	1383	Y	C	ENST00000360228	Hemiplegic migraine%2C coma%2C cerebellar atrophy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine%2C coma%2C cerebellar atrophy	maf_pathogenic	NA	NA	0	1	11061267,28717674,22082423
CACNA1A:1391:A:T	CACNA1A	1391	A	T	ENST00000360228	EE+Hemiconvulsion	de novo	gof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	NA
CACNA1A:1392:V:L	CACNA1A	1392	V	L	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_280773
CACNA1A:1392:V:M	CACNA1A	1392	V	M	ENST00000360228	EE+Hemiconvulsion	de novo	gof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	28007337,27959697
CACNA1A:1392:V:M	CACNA1A	1392	V	M	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;Familial hemiplegic migraine type 1;Inborn genetic diseases;not provided;not specified	maf_pathogenic	NA	NA	0	0	VariationID_195935
CACNA1A:1392:V:M	CACNA1A	1392	V	M	ENST00000360228	Ataxia%2C non-progressive congenital	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Ataxia%2C non-progressive congenital	maf_pathogenic	NA	NA	0	1	28007337,27959697
CACNA1A:1392:V:M	CACNA1A	1392	V	M	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1400:G:E	CACNA1A	1400	G	E	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_446924
CACNA1A:1402:F:C	CACNA1A	1402	F	C	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	unknown	Pathogenic	0	1	Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_8508
CACNA1A:1402:F:C	CACNA1A	1402	F	C	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	11723274,28167673,16306128,25109669
CACNA1A:1410:K:E	CACNA1A	1410	K	E	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_500602
CACNA1A:1427:E:D	CACNA1A	1427	E	D	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_421972
CACNA1A:1435:W:R	CACNA1A	1435	W	R	ENST00000360228	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset with progressive cerebellar & optic nerve atrophy	maf_pathogenic	NA	NA	0	1	27250579
CACNA1A:1455:V:L	CACNA1A	1455	V	L	ENST00000360228	Familial hemiplegic migraine type 1	NA	gof	clinvar	unknown	Pathogenic	0	1	Familial hemiplegic migraine type 1	maf_pathogenic	NA	NA	0	0	VariationID_8503
CACNA1A:1455:V:L	CACNA1A	1455	V	L	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	10408532,10734061
CACNA1A:1481:G:R	CACNA1A	1481	G	R	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	unknown	not provided	4.355e-06	1	Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_68430
CACNA1A:1481:G:R	CACNA1A	1481	G	R	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	4.355e-06	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	15173248
CACNA1A:1483:R:H	CACNA1A	1483	R	H	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1483:R:L	CACNA1A	1483	R	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_446927
CACNA1A:1483:R:L	CACNA1A	1483	R	L	ENST00000360228	Cerebellar ataxia	NA	unknown	hgmd	unknown	DM	0	1	Cerebellar ataxia	maf_pathogenic	NA	NA	0	0	28444220
CACNA1A:1489:F:S	CACNA1A	1489	F	S	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	unknown	Pathogenic	0	1	Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_8498
CACNA1A:1489:F:S	CACNA1A	1489	F	S	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	11179022
CACNA1A:1490:Y:C	CACNA1A	1490	Y	C	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_422625
CACNA1A:1492:V:I	CACNA1A	1492	V	I	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	unknown	not provided	4.08e-06	1	Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_68431
CACNA1A:1492:V:I	CACNA1A	1492	V	I	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	4.08e-06	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	15173248
CACNA1A:1505:F:S	CACNA1A	1505	F	S	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	20837964,28717674
CACNA1A:1505:F:V	CACNA1A	1505	F	V	ENST00000360228	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
CACNA1A:1505:F:V	CACNA1A	1505	F	V	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1506:V:L	CACNA1A	1506	V	L	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1507:A:D	CACNA1A	1507	A	D	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_420676
CACNA1A:1507:A:S	CACNA1A	1507	A	S	ENST00000360228	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Pathogenic	0	1	Epileptic encephalopathy, early infantile, 42	maf_pathogenic	NA	NA	0	0	VariationID_254269
CACNA1A:1507:A:S	CACNA1A	1507	A	S	ENST00000360228	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset	maf_pathogenic	NA	NA	0	1	27476654
CACNA1A:1507:A:T	CACNA1A	1507	A	T	ENST00000360228	Abnormality of the nervous system	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Abnormality of the nervous system	maf_pathogenic	NA	NA	0	1	26633542
CACNA1A:1519:K:R	CACNA1A	1519	K	R	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.061e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1533:C:S	CACNA1A	1533	C	S	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	15728280
CACNA1A:1540:A:T	CACNA1A	1540	A	T	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.241e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1542:P:L	CACNA1A	1542	P	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.091e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_422141
CACNA1A:1554:F:L	CACNA1A	1554	F	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.126e-06	2	not specified	unknown	NA	NA	0	0	VariationID_383814
CACNA1A:1563:V:M	CACNA1A	1563	V	M	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1570:T:S	CACNA1A	1570	T	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_451757
CACNA1A:1574:M:V	CACNA1A	1574	M	V	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_476261
CACNA1A:1603:V:I	CACNA1A	1603	V	I	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_446928
CACNA1A:1612:C:W	CACNA1A	1612	C	W	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.219e-05	2	not specified	unknown	NA	NA	0	0	VariationID_393096
CACNA1A:1622:L:V	CACNA1A	1622	L	V	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1633:D:N	CACNA1A	1633	D	N	ENST00000360228	EE	de novo	lof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	VariationID_449943
CACNA1A:1633:D:N	CACNA1A	1633	D	N	ENST00000360228	Inborn genetic diseases;not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Inborn genetic diseases;not provided	maf_pathogenic	NA	NA	0	0	VariationID_449943
CACNA1A:1633:D:N	CACNA1A	1633	D	N	ENST00000360228	DD_noE	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_noE	maf_pathogenic	NA	NA	1	1	29942082
CACNA1A:1643:D:N	CACNA1A	1643	D	N	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_422063
CACNA1A:1660:R:H	CACNA1A	1660	R	H	ENST00000360228	Episodic ataxia type 2;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Episodic ataxia type 2;not provided	maf_pathogenic	NA	NA	1	1	VariationID_8495
CACNA1A:1660:R:H	CACNA1A	1660	R	H	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	10987655,26814174
CACNA1A:1663:R:Q	CACNA1A	1663	R	Q	ENST00000360228	Chronic and progressive ataxia;Enlarged cisterna magna;Global developmental delay;Spinocerebellar ataxia 6;not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Chronic and progressive ataxia;Enlarged cisterna magna;Global developmental delay;Spinocerebellar ataxia 6;not provided	maf_pathogenic	NA	NA	0	1	VariationID_68432
CACNA1A:1663:R:Q	CACNA1A	1663	R	Q	ENST00000360228	Spinocerebellar ataxia 6	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Spinocerebellar ataxia 6	maf_pathogenic	NA	NA	0	1	16325861,28742085
CACNA1A:1666:R:W	CACNA1A	1666	R	W	ENST00000360228	Familial hemiplegic migraine type 1	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Familial hemiplegic migraine type 1	maf_pathogenic	NA	NA	1	1	VariationID_68433
CACNA1A:1666:R:W	CACNA1A	1666	R	W	ENST00000360228	Hemiplegic migraine with cerebellar signs	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine with cerebellar signs	maf_pathogenic	NA	NA	0	1	11439943,18437043
CACNA1A:1669:K:R	CACNA1A	1669	K	R	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	20837964,28717674
CACNA1A:1672:R:C	CACNA1A	1672	R	C	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_196769
CACNA1A:1672:R:P	CACNA1A	1672	R	P	ENST00000360228	Cerebellar ataxia;Cerebellar ataxia;Cerebellar atrophy;Intellectual disability	NA	unknown	clinvar	unknown	Pathogenic/Likely pathogenic	0	1	Cerebellar ataxia;Cerebellar ataxia;Cerebellar atrophy;Intellectual disability	maf_pathogenic	NA	NA	0	0	VariationID_375366
CACNA1A:1672:R:P	CACNA1A	1672	R	P	ENST00000360228	Developmental delay%2C progressive cerebellar atrophy & hypotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Developmental delay%2C progressive cerebellar atrophy & hypotonia	maf_pathogenic	NA	NA	0	1	28327206,28742085
CACNA1A:1673:Q:R	CACNA1A	1673	Q	R	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1678:R:C	CACNA1A	1678	R	C	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	unknown	not provided	0	1	Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_68434
CACNA1A:1678:R:C	CACNA1A	1678	R	C	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	20129625
CACNA1A:1681:L:P	CACNA1A	1681	L	P	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	17212932
CACNA1A:1682:W:R	CACNA1A	1682	W	R	ENST00000360228	Familial hemiplegic migraine type 1	NA	gof	clinvar	unknown	not provided	0	1	Familial hemiplegic migraine type 1	maf_pathogenic	NA	NA	0	0	VariationID_68435
CACNA1A:1682:W:R	CACNA1A	1682	W	R	ENST00000360228	Hemiplegic migraine with cerebellar signs	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine with cerebellar signs	maf_pathogenic	NA	NA	0	1	11439943,22549042
CACNA1A:1692:P:T	CACNA1A	1692	P	T	ENST00000360228	FHM, no ID	de novo	gof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	NA
CACNA1A:1694:V:F	CACNA1A	1694	V	F	ENST00000360228	Hemiplegic migraine/alternating hemiplegia of childhood	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine/alternating hemiplegia of childhood	maf_pathogenic	NA	NA	1	1	18498393,28717674
CACNA1A:1694:V:I	CACNA1A	1694	V	I	ENST00000360228	Familial hemiplegic migraine type 1	NA	gof	clinvar	unknown	not provided	0	1	Familial hemiplegic migraine type 1	maf_pathogenic	NA	NA	0	0	VariationID_68436
CACNA1A:1694:V:I	CACNA1A	1694	V	I	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	11439943,22549042
CACNA1A:1699:A:T	CACNA1A	1699	A	T	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.949e-06	2	not specified	unknown	NA	NA	0	0	VariationID_196860
CACNA1A:1708:I:T	CACNA1A	1708	I	T	ENST00000360228	Episodic ataxia type 2;Familial hemiplegic migraine type 1;Spinocerebellar ataxia 6	NA	unknown	clinvar	unknown	Pathogenic	0	1	Episodic ataxia type 2;Familial hemiplegic migraine type 1;Spinocerebellar ataxia 6	maf_pathogenic	NA	NA	0	0	VariationID_8510
CACNA1A:1708:I:T	CACNA1A	1708	I	T	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	15452324,28717674
CACNA1A:1709:G:R	CACNA1A	1709	G	R	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_446929
CACNA1A:1711:Q:K	CACNA1A	1711	Q	K	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_422394
CACNA1A:1719:D:N	CACNA1A	1719	D	N	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.843e-05	2	not specified	unknown	NA	NA	0	0	VariationID_373709
CACNA1A:1724:D:N	CACNA1A	1724	D	N	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.436e-05	3	not specified	unknown	NA	NA	0	0	VariationID_286691
CACNA1A:1724:D:N	CACNA1A	1724	D	N	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	unknown	DM	2.436e-05	1	Hemiplegic migraine	unknown	NA	NA	0	0	20837964,27884173
CACNA1A:1734:E:K	CACNA1A	1734	E	K	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_422385
CACNA1A:1735:H:L	CACNA1A	1735	H	L	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	unknown	not provided	0	1	Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_68437
CACNA1A:1735:H:L	CACNA1A	1735	H	L	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	15293273
CACNA1A:1748:L:P	CACNA1A	1748	L	P	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	27066515
CACNA1A:1750:R:W	CACNA1A	1750	R	W	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	19864665
CACNA1A:1754:G:R	CACNA1A	1754	G	R	ENST00000360228	ID_E	de novo	lof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	26795593
CACNA1A:1754:G:R	CACNA1A	1754	G	R	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_476264
CACNA1A:1754:G:R	CACNA1A	1754	G	R	ENST00000360228	Epilepsy with typical absence seizures	NA	unknown	hgmd	unknown	DM	0	1	Epilepsy with typical absence seizures	maf_pathogenic	NA	NA	0	0	26795593
CACNA1A:1754:G:R	CACNA1A	1754	G	R	ENST00000360228	E_NDD_E	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	E_NDD_E	maf_pathogenic	NA	NA	1	1	29942082
CACNA1A:1755:E:G	CACNA1A	1755	E	G	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	28096552
CACNA1A:1755:E:K	CACNA1A	1755	E	K	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	unknown	Pathogenic	0	1	Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_8500
CACNA1A:1755:E:K	CACNA1A	1755	E	K	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	11176968,16306128
CACNA1A:1767:G:R	CACNA1A	1767	G	R	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1797:C:F	CACNA1A	1797	C	F	ENST00000360228	ID_noE	de novo	lof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	NA
CACNA1A:1798:S:L	CACNA1A	1798	S	L	ENST00000360228	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_420055
CACNA1A:1798:S:L	CACNA1A	1798	S	L	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia 2	maf_pathogenic	NA	NA	1	1	24091540
CACNA1A:1802:L:P	CACNA1A	1802	L	P	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1807:A:T	CACNA1A	1807	A	T	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_500851
CACNA1A:1807:A:T	CACNA1A	1807	A	T	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1808:V:L	CACNA1A	1808	V	L	ENST00000360228	EE+Hemiconvulsion	de novo	gof	SyrbeS_LemkeJ_CACNA1A	(Likely)pathogenic	NA	NA	NA	NA	NA	NA	NA	1	1	NA
CACNA1A:1809:I:L	CACNA1A	1809	I	L	ENST00000360228	Familial hemiplegic migraine type 1	NA	gof	clinvar	unknown	Pathogenic	0	1	Familial hemiplegic migraine type 1	maf_pathogenic	NA	NA	0	0	VariationID_8490
CACNA1A:1809:I:L	CACNA1A	1809	I	L	ENST00000360228	Hemiplegic migraine and episodic ataxia 2	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine and episodic ataxia 2	maf_pathogenic	NA	NA	0	1	8898206,10024348,9488686
CACNA1A:1823:L:P	CACNA1A	1823	L	P	ENST00000360228	not provided;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not provided;not specified	maf_pathogenic	NA	NA	0	0	VariationID_383670
CACNA1A:1824:G:D	CACNA1A	1824	G	D	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_421721
CACNA1A:1827:H:D	CACNA1A	1827	H	D	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_422249
CACNA1A:1830:E:K	CACNA1A	1830	E	K	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.063e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_391944
CACNA1A:1839:D:E	CACNA1A	1839	D	E	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.137e-06	2	not specified	unknown	NA	NA	0	0	VariationID_422505
CACNA1A:1841:A:T	CACNA1A	1841	A	T	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.222e-05	2	not specified	unknown	NA	NA	0	0	VariationID_383371
CACNA1A:1884:V:I	CACNA1A	1884	V	I	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001915	0	not specified	unknown	NA	NA	0	0	VariationID_384036
CACNA1A:1884:V:I	CACNA1A	1884	V	I	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001915	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1888:N:S	CACNA1A	1888	N	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_429473
CACNA1A:1919:D:N	CACNA1A	1919	D	N	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_420373
CACNA1A:1923:R:Q	CACNA1A	1923	R	Q	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.131e-06	2	not specified	unknown	NA	NA	0	0	VariationID_422445
CACNA1A:1937:T:M	CACNA1A	1937	T	M	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	7.72e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1956:Y:H	CACNA1A	1956	Y	H	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1960:M:I	CACNA1A	1960	M	I	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_426309
CACNA1A:1964:Y:C	CACNA1A	1964	Y	C	ENST00000360228	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_522072
CACNA1A:1966:R:Q	CACNA1A	1966	R	Q	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0005601	0	not specified	unknown	NA	NA	0	0	VariationID_381583
CACNA1A:1966:R:Q	CACNA1A	1966	R	Q	ENST00000360228	Epilepsy%2C idiopathic	NA	unknown	hgmd	unknown	DM	0.0005601	2	Epilepsy%2C idiopathic	unknown	NA	NA	0	0	21703448,23869231
CACNA1A:1977:R:H	CACNA1A	1977	R	H	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_383188
CACNA1A:1982:R:Q	CACNA1A	1982	R	Q	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.006e-05	3	not specified	unknown	NA	NA	0	0	VariationID_373509
CACNA1A:1996:T:A	CACNA1A	1996	T	A	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.954e-05	2	not specified	unknown	NA	NA	0	0	VariationID_450300
CACNA1A:1996:T:A	CACNA1A	1996	T	A	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.954e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:1996:T:M	CACNA1A	1996	T	M	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	9.938e-05	2	not specified	unknown	NA	NA	0	0	VariationID_385307
CACNA1A:2001:P:S	CACNA1A	2001	P	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.753e-05	2	not specified	unknown	NA	NA	0	0	VariationID_451126
CACNA1A:2005:A:T	CACNA1A	2005	A	T	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.281e-05	2	not specified	unknown	NA	NA	0	0	VariationID_446936
CACNA1A:2005:A:T	CACNA1A	2005	A	T	ENST00000360228	Hemiplegic migraine	NA	gof	hgmd	unknown	DM	8.281e-05	1	Hemiplegic migraine	unknown	NA	NA	0	0	24664531
CACNA1A:2006:L:R	CACNA1A	2006	L	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.544e-05	2	not specified	unknown	NA	NA	0	0	VariationID_450950
CACNA1A:2019:A:S	CACNA1A	2019	A	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_450706
CACNA1A:2021:E:K	CACNA1A	2021	E	K	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0003779	2	not specified	unknown	NA	NA	0	0	VariationID_426764
CACNA1A:2023:G:S	CACNA1A	2023	G	S	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001152	2	not specified	unknown	NA	NA	0	0	VariationID_386799
CACNA1A:2023:G:S	CACNA1A	2023	G	S	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001152	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2042:T:M	CACNA1A	2042	T	M	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	3.787e-05	3	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified	unknown	NA	NA	0	0	VariationID_386521
CACNA1A:2042:T:M	CACNA1A	2042	T	M	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.787e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2054:D:N	CACNA1A	2054	D	N	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	5.747e-05	2	not specified	unknown	NA	NA	0	0	VariationID_386310
CACNA1A:2068:R:Q	CACNA1A	2068	R	Q	ENST00000360228	Inborn genetic diseases;not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.22e-05	3	Inborn genetic diseases;not specified	unknown	NA	NA	0	0	VariationID_426943
CACNA1A:2070:M:I	CACNA1A	2070	M	I	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_446938
CACNA1A:2071:G:S	CACNA1A	2071	G	S	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.033e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2073:D:N	CACNA1A	2073	D	N	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_392047
CACNA1A:2079:E:K	CACNA1A	2079	E	K	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.22e-05	2	not specified	unknown	NA	NA	0	0	VariationID_422383
CACNA1A:2079:E:K	CACNA1A	2079	E	K	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.22e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2086:G:V	CACNA1A	2086	G	V	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.551e-05	2	not specified	unknown	NA	NA	0	0	VariationID_282735
CACNA1A:2086:G:V	CACNA1A	2086	G	V	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.551e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2088:G:S	CACNA1A	2088	G	S	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_476268
CACNA1A:2089:R:Q	CACNA1A	2089	R	Q	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	unknown	DM	1.223e-05	1	Episodic ataxia 2	unknown	NA	NA	0	0	20663518
CACNA1A:2089:R:W	CACNA1A	2089	R	W	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.153e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2102:R:K	CACNA1A	2102	R	K	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_497422
CACNA1A:2106:R:L	CACNA1A	2106	R	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_421772
CACNA1A:2116:S:A	CACNA1A	2116	S	A	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.909e-05	2	not specified	unknown	NA	NA	0	0	VariationID_452673
CACNA1A:2116:S:A	CACNA1A	2116	S	A	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.909e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2121:M:L	CACNA1A	2121	M	L	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_476269
CACNA1A:2127:V:A	CACNA1A	2127	V	A	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2127:V:M	CACNA1A	2127	V	M	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	4.455e-05	2	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	unknown	NA	NA	0	0	VariationID_476271
CACNA1A:2133:R:Q	CACNA1A	2133	R	Q	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.068e-05	2	not specified	unknown	NA	NA	0	0	VariationID_197514
CACNA1A:2133:R:Q	CACNA1A	2133	R	Q	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.068e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2134:R:C	CACNA1A	2134	R	C	ENST00000360228	Episodic ataxia type 2;not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.061e-05	3	Episodic ataxia type 2;not specified	unknown	NA	NA	0	0	VariationID_68440
CACNA1A:2134:R:C	CACNA1A	2134	R	C	ENST00000360228	Episodic ataxia 2	NA	lof	hgmd	unknown	DM	6.061e-05	2	Episodic ataxia 2	unknown	NA	NA	0	0	15173248,27400454
CACNA1A:2134:R:C	CACNA1A	2134	R	C	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.061e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2144:P:L	CACNA1A	2144	P	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.682e-05	2	not specified	unknown	NA	NA	0	0	VariationID_446939
CACNA1A:2154:R:Q	CACNA1A	2154	R	Q	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.063e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2155:R:H	CACNA1A	2155	R	H	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_422167
CACNA1A:2155:R:L	CACNA1A	2155	R	L	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	2.092e-05	3	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified	unknown	NA	NA	0	0	VariationID_289416
CACNA1A:2155:R:L	CACNA1A	2155	R	L	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.092e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2156:R:C	CACNA1A	2156	R	C	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0002853	2	not specified	unknown	NA	NA	0	0	VariationID_421928
CACNA1A:2156:R:G	CACNA1A	2156	R	G	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.038e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2156:R:H	CACNA1A	2156	R	H	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.124e-05	2	not specified	unknown	NA	NA	0	0	VariationID_429650
CACNA1A:2158:R:H	CACNA1A	2158	R	H	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.226e-05	2	not specified	unknown	NA	NA	0	0	VariationID_265065
CACNA1A:2165:R:H	CACNA1A	2165	R	H	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001178	3	not specified	unknown	NA	NA	0	0	VariationID_166765
CACNA1A:2165:R:H	CACNA1A	2165	R	H	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001178	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2169:R:C	CACNA1A	2169	R	C	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	0.0001122	3	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified	unknown	NA	NA	0	0	VariationID_421988
CACNA1A:2172:D:Y	CACNA1A	2172	D	Y	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_446942
CACNA1A:2176:G:V	CACNA1A	2176	G	V	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified	maf_pathogenic	NA	NA	0	0	VariationID_424463
CACNA1A:2192:S:L	CACNA1A	2192	S	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_452992
CACNA1A:2195:R:Q	CACNA1A	2195	R	Q	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002715	0	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified	unknown	NA	NA	0	0	VariationID_387024
CACNA1A:2195:R:W	CACNA1A	2195	R	W	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2197:Q:H	CACNA1A	2197	Q	H	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2201:R:W	CACNA1A	2201	R	W	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_380390
CACNA1A:2201:R:W	CACNA1A	2201	R	W	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2203:K:R	CACNA1A	2203	K	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.472e-05	2	not specified	unknown	NA	NA	0	0	VariationID_383881
CACNA1A:2204:D:N	CACNA1A	2204	D	N	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	7.362e-06	2	not specified	unknown	NA	NA	0	0	VariationID_450295
CACNA1A:2205:R:Q	CACNA1A	2205	R	Q	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	2.952e-05	2	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	unknown	NA	NA	0	0	VariationID_476273
CACNA1A:2205:R:W	CACNA1A	2205	R	W	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.425e-05	2	not specified	unknown	NA	NA	0	0	VariationID_500186
CACNA1A:2206:K:R	CACNA1A	2206	K	R	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2208:R:G	CACNA1A	2208	R	G	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2209:Q:H	CACNA1A	2209	Q	H	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2210:H:Q	CACNA1A	2210	H	Q	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.239e-05	2	not specified	unknown	NA	NA	0	0	VariationID_387809
CACNA1A:2216:H:Y	CACNA1A	2216	H	Y	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	7.594e-06	2	not specified	unknown	NA	NA	0	0	VariationID_426377
CACNA1A:2220:P:H	CACNA1A	2220	P	H	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_432563
CACNA1A:2221:P:L	CACNA1A	2221	P	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.907e-05	2	not specified	unknown	NA	NA	0	0	VariationID_387200
CACNA1A:2221:P:L	CACNA1A	2221	P	L	ENST00000360228	Episodic ataxia	NA	lof	hgmd	unknown	DM	6.907e-05	2	Episodic ataxia	unknown	NA	NA	0	0	28566750
CACNA1A:2221:P:L	CACNA1A	2221	P	L	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.907e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2227:R:C	CACNA1A	2227	R	C	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.829e-05	2	not specified	unknown	NA	NA	0	0	VariationID_424549
CACNA1A:2227:R:L	CACNA1A	2227	R	L	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_418102
CACNA1A:2232:R:W	CACNA1A	2232	R	W	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.218e-05	3	not specified	unknown	NA	NA	0	0	VariationID_422068
CACNA1A:2235:H:R	CACNA1A	2235	H	R	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_423374
CACNA1A:2236:G:C	CACNA1A	2236	G	C	ENST00000360228	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_476274
CACNA1A:2244:R:H	CACNA1A	2244	R	H	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.809e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_383246
CACNA1A:2246:S:F	CACNA1A	2246	S	F	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.296e-05	2	not specified	unknown	NA	NA	0	0	VariationID_197539
CACNA1A:2254:E:Q	CACNA1A	2254	E	Q	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001468	2	not specified	unknown	NA	NA	0	0	VariationID_421775
CACNA1A:2254:E:Q	CACNA1A	2254	E	Q	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001468	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2257:A:G	CACNA1A	2257	A	G	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_393198
CACNA1A:2257:A:T	CACNA1A	2257	A	T	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Likely benign	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_388678
CACNA1A:2257:A:V	CACNA1A	2257	A	V	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.055e-05	2	not specified	unknown	NA	NA	0	0	VariationID_288783
CACNA1A:2259:R:W	CACNA1A	2259	R	W	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.018e-05	2	not specified	unknown	NA	NA	0	0	VariationID_422310
CACNA1A:2306:A:V	CACNA1A	2306	A	V	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2308:G:S	CACNA1A	2308	G	S	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.259e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2351:G:E	CACNA1A	2351	G	E	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_446943
CACNA1A:2382:A:S	CACNA1A	2382	A	S	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.376e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2397:V:M	CACNA1A	2397	V	M	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001557	2	not specified	unknown	NA	NA	0	0	VariationID_446944
CACNA1A:2397:V:M	CACNA1A	2397	V	M	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001557	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2403:G:V	CACNA1A	2403	G	V	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2421:P:A	CACNA1A	2421	P	A	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001611	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2421:P:L	CACNA1A	2421	P	L	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001669	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2421:P:Q	CACNA1A	2421	P	Q	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2425:G:D	CACNA1A	2425	G	D	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002929	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2431:A:T	CACNA1A	2431	A	T	ENST00000360228	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001738	2	not specified	unknown	NA	NA	0	0	VariationID_446945
CACNA1A:2431:A:T	CACNA1A	2431	A	T	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001738	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2436:A:T	CACNA1A	2436	A	T	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.952e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2439:P:T	CACNA1A	2439	P	T	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2443:A:V	CACNA1A	2443	A	V	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.000684	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2467:R:Q	CACNA1A	2467	R	Q	ENST00000360228	Episodic ataxia type 2	NA	lof	clinvar	unknown	Uncertain significance	0	2	Episodic ataxia type 2	maf_pathogenic	NA	NA	0	0	VariationID_448964
CACNA1A:2475:G:V	CACNA1A	2475	G	V	ENST00000360228	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_521114
CACNA1A:2478:P:L	CACNA1A	2478	P	L	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.159e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2480:H:Q	CACNA1A	2480	H	Q	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001498	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2481:G:R	CACNA1A	2481	G	R	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001444	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2486:R:C	CACNA1A	2486	R	C	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.359e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1A:2497:P:S	CACNA1A	2497	P	S	ENST00000360228	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1B:1389:R:H	CACNA1B	1389	R	H	ENST00000371372;NM_000718.3	Dystonia 23	NA	unknown	clinvar	unknown	Pathogenic	0.0004223	1	Dystonia 23	unknown	NA	NA	0	0	VariationID_189196
CACNA1B:1389:R:H	CACNA1B	1389	R	H	ENST00000371372;NM_000718.3	Myoclonus dystonia syndrome	NA	unknown	hgmd	unknown	DM	0.0004223	1	Myoclonus dystonia syndrome	unknown	NA	NA	0	0	25296916,26157024
CACNA1B:1516:M:I	CACNA1B	1516	M	I	ENST00000371372;NM_000718.3	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	unknown	NA	NA	0	0	VariationID_425475
CACNA1B:1745:S:G	CACNA1B	1745	S	G	ENST00000371372;NM_000718.3	Dystonia 23	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Dystonia 23	unknown	NA	NA	0	0	VariationID_522740
CACNA1B:1957:R:C	CACNA1B	1957	R	C	ENST00000371372;NM_000718.3	DD_noE	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	0.0003077	2	DD_noE	unknown	NA	NA	0	0	29942082
CACNA1B:2242:D:H	CACNA1B	2242	D	H	ENST00000371372;NM_000718.3	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0008714	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1C:5:N:H	CACNA1C	5	N	H	ENST00000347598	Brugada syndrome;Timothy syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome;Timothy syndrome	maf_pathogenic	NA	NA	0	0	VariationID_307975
CACNA1C:5:N:S	CACNA1C	5	N	S	ENST00000347598	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_496070
CACNA1C:17:G:D	CACNA1C	17	G	D	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Likely benign	5.391e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190620
CACNA1C:24:R:C	CACNA1C	24	R	C	ENST00000347598	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.923e-05	3	Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_190675
CACNA1C:24:R:H	CACNA1C	24	R	H	ENST00000347598	Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.937e-05	3	Timothy syndrome;not specified	unknown	NA	NA	0	0	VariationID_93422
CACNA1C:26:A:V	CACNA1C	26	A	V	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_457001
CACNA1C:28:A:T	CACNA1C	28	A	T	ENST00000347598	Long QT%2C non-syndromic	NA	gof	hgmd	unknown	DM	2.778e-05	2	Long QT%2C non-syndromic	unknown	NA	NA	0	0	25633834
CACNA1C:31:N:D	CACNA1C	31	N	D	ENST00000347598	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	9.288e-06	3	Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_190678
CACNA1C:33:N:S	CACNA1C	33	N	S	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.885e-05	2	not specified	unknown	NA	NA	0	0	VariationID_190679
CACNA1C:34:A:V	CACNA1C	34	A	V	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	5.277e-05	2	not specified	unknown	NA	NA	0	0	VariationID_190680
CACNA1C:34:A:V	CACNA1C	34	A	V	ENST00000347598	Sudden cardiac death	NA	unknown	hgmd	unknown	DM	5.277e-05	1	Sudden cardiac death	unknown	NA	NA	0	0	24981977
CACNA1C:36:A:V	CACNA1C	36	A	V	ENST00000347598	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	9.781e-06	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_264470
CACNA1C:37:G:R	CACNA1C	37	G	R	ENST00000347598	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.003524	3	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_93391
CACNA1C:37:G:R	CACNA1C	37	G	R	ENST00000347598	Sudden arrhythmic death syndrome	NA	unknown	hgmd	unknown	DM	0.003524	2	Sudden arrhythmic death syndrome	unknown	NA	NA	0	0	26498160
CACNA1C:39:A:V	CACNA1C	39	A	V	ENST00000347598	Brugada syndrome;Brugada syndrome 3	NA	unknown	clinvar	unknown	Pathogenic	0	1	Brugada syndrome;Brugada syndrome 3	maf_pathogenic	NA	NA	0	0	VariationID_17635
CACNA1C:39:A:V	CACNA1C	39	A	V	ENST00000347598	Brugada syndrome (shorter-than-normal QT interval)	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome (shorter-than-normal QT interval)	maf_pathogenic	NA	NA	0	1	17224476,22385640,24775099
CACNA1C:44:P:A	CACNA1C	44	P	A	ENST00000347598	brugada_syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Brugada syndrome;not specified	maf_pathogenic	NA	NA	0	0	VariationID_373514
CACNA1C:52:W:R	CACNA1C	52	W	R	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190681
CACNA1C:57:D:N	CACNA1C	57	D	N	ENST00000347598	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	1.027e-05	2	not provided	unknown	NA	NA	0	0	VariationID_191029
CACNA1C:59:A:S	CACNA1C	59	A	S	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190682
CACNA1C:68:A:T	CACNA1C	68	A	T	ENST00000347598	Brugada syndrome;Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001386	3	Brugada syndrome;Timothy syndrome;not specified	unknown	NA	NA	0	0	VariationID_190709
CACNA1C:70:N:S	CACNA1C	70	N	S	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456951
CACNA1C:71:A:T	CACNA1C	71	A	T	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_423109
CACNA1C:71:A:V	CACNA1C	71	A	V	ENST00000347598	Brugada syndrome;Timothy syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0.0001058	2	Brugada syndrome;Timothy syndrome	unknown	NA	NA	0	0	VariationID_308051
CACNA1C:78:S:T	CACNA1C	78	S	T	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456953
CACNA1C:79:T:M	CACNA1C	79	T	M	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.058e-05	2	not specified	unknown	NA	NA	0	0	VariationID_190683
CACNA1C:81:R:Q	CACNA1C	81	R	Q	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	3	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190684
CACNA1C:83:R:W	CACNA1C	83	R	W	ENST00000347598	brugada_syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome;Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_264632
CACNA1C:86:Y:C	CACNA1C	86	Y	C	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.096e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190687
CACNA1C:154:A:T	CACNA1C	154	A	T	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_423695
CACNA1C:161:R:Q	CACNA1C	161	R	Q	ENST00000347598	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	2.475e-05	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_519371
CACNA1C:171:T:M	CACNA1C	171	T	M	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.064e-05	2	not specified	unknown	NA	NA	0	0	VariationID_381482
CACNA1C:171:T:M	CACNA1C	171	T	M	ENST00000347598	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	2.064e-05	1	Sudden unexplained death	unknown	NA	NA	0	0	25500949
CACNA1C:180:A:T	CACNA1C	180	A	T	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.591e-06	2	not specified	unknown	NA	NA	0	0	VariationID_190690
CACNA1C:300:N:D	CACNA1C	300	N	D	ENST00000347598	Cardiovascular phenotype;Long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	2.851e-05	3	Cardiovascular phenotype;Long QT syndrome	unknown	NA	NA	0	0	VariationID_457002
CACNA1C:300:N:D	CACNA1C	300	N	D	ENST00000347598	brugada_syndrome	NA	lof	hgmd	unknown	DM	2.851e-05	2	Brugada syndrome	unknown	NA	NA	0	0	25341504,27711072
CACNA1C:304:I:T	CACNA1C	304	I	T	ENST00000347598	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0004775	0	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_190631
CACNA1C:317:A:V	CACNA1C	317	A	V	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.145e-06	2	not specified	unknown	NA	NA	0	0	VariationID_418782
CACNA1C:318:L:P	CACNA1C	318	L	P	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	4.07e-06	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_457003
CACNA1C:320:T:M	CACNA1C	320	T	M	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.105e-05	2	not specified	unknown	NA	NA	0	0	VariationID_418848
CACNA1C:329:G:S	CACNA1C	329	G	S	ENST00000347598	Sudden cardiac death;not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.064e-06	3	Sudden cardiac death;not specified	maf_pathogenic	NA	NA	0	0	VariationID_190632
CACNA1C:330:T:M	CACNA1C	330	T	M	ENST00000347598	Cardiovascular phenotype;not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.438e-05	3	Cardiovascular phenotype;not specified	unknown	NA	NA	0	0	VariationID_451121
CACNA1C:344:T:I	CACNA1C	344	T	I	ENST00000347598	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_191419
CACNA1C:351:F:Y	CACNA1C	351	F	Y	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_451110
CACNA1C:381:P:S	CACNA1C	381	P	S	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190696
CACNA1C:402:G:S	CACNA1C	402	G	S	ENST00000347598	Congenital long QT syndrome;Timothy syndrome;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Congenital long QT syndrome;Timothy syndrome;not provided	maf_pathogenic	NA	NA	1	1	VariationID_17633
CACNA1C:402:G:S	CACNA1C	402	G	S	ENST00000347598	Timothy syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Timothy syndrome	maf_pathogenic	NA	NA	1	1	15863612,N/A,21685391,28807990,24773605,23979604,25691416,28341588
CACNA1C:405:S:R	CACNA1C	405	S	R	ENST00000347598	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	1	Long QT syndrome	maf_pathogenic	NA	NA	0	0	27920829
CACNA1C:406:G:R	CACNA1C	406	G	R	ENST00000347598	Congenital long QT syndrome;Long QT syndrome;Timothy syndrome;not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	3	Congenital long QT syndrome;Long QT syndrome;Timothy syndrome;not provided	maf_pathogenic	NA	NA	0	1	VariationID_17632
CACNA1C:406:G:R	CACNA1C	406	G	R	ENST00000347598	Timothy syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Timothy syndrome	maf_pathogenic	NA	NA	1	1	15454078,23678275,21878566,27868338,23690510,21910241,23580742,27593853,23313911,23631430,16360093,28211989,15863612,15863612,28371864,19074970
CACNA1C:418:R:P	CACNA1C	418	R	P	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_93392
CACNA1C:419:G:R	CACNA1C	419	G	R	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190697
CACNA1C:445:E:K	CACNA1C	445	E	K	ENST00000347598	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_518788
CACNA1C:446:D:G	CACNA1C	446	D	G	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_411736
CACNA1C:448:D:N	CACNA1C	448	D	N	ENST00000347598	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.144e-06	3	Long QT syndrome;not specified	maf_pathogenic	NA	NA	0	0	VariationID_190635
CACNA1C:450:E:Q	CACNA1C	450	E	Q	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_411717
CACNA1C:456:M:L	CACNA1C	456	M	L	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190636
CACNA1C:461:P:T	CACNA1C	461	P	T	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	4.45e-06	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456945
CACNA1C:462:R:G	CACNA1C	462	R	G	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_216480
CACNA1C:462:R:Q	CACNA1C	462	R	Q	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_199036
CACNA1C:474:V:F	CACNA1C	474	V	F	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.281e-05	2	not specified	unknown	NA	NA	0	0	VariationID_190698
CACNA1C:474:V:I	CACNA1C	474	V	I	ENST00000347598	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	4.27e-06	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_264623
CACNA1C:479:V:M	CACNA1C	479	V	M	ENST00000347598	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	1.699e-05	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_518504
CACNA1C:485:E:K	CACNA1C	485	E	K	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.286e-05	2	not specified	unknown	NA	NA	0	0	VariationID_190637
CACNA1C:490:G:R	CACNA1C	490	G	R	ENST00000347598	Brugada syndrome;Brugada syndrome 3;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0006518	0	Brugada syndrome;Brugada syndrome 3;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_17634
CACNA1C:490:G:R	CACNA1C	490	G	R	ENST00000347598	Brugada syndrome (shorter-than-normal QT interval)	NA	unknown	hgmd	unknown	DM	0.0006518	1	Brugada syndrome (shorter-than-normal QT interval)	unknown	NA	NA	0	0	17224476,24183960,28807990,25333069,27711072,23414114
CACNA1C:494:A:V	CACNA1C	494	A	V	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.825e-05	2	not specified	unknown	NA	NA	0	0	VariationID_190638
CACNA1C:495:H:Q	CACNA1C	495	H	Q	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.843e-05	2	not specified	unknown	NA	NA	0	0	VariationID_190639
CACNA1C:496:R:Q	CACNA1C	496	R	Q	ENST00000347598	Cardiovascular phenotype;not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.468e-05	3	Cardiovascular phenotype;not specified	unknown	NA	NA	0	0	VariationID_190640
CACNA1C:496:R:W	CACNA1C	496	R	W	ENST00000347598	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.937e-05	3	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome;not specified	unknown	NA	NA	0	0	VariationID_190699
CACNA1C:507:R:H	CACNA1C	507	R	H	ENST00000347598	Brugada syndrome;Timothy syndrome	NA	unknown	clinvar	unknown	Uncertain significance	3.25e-05	2	Brugada syndrome;Timothy syndrome	unknown	NA	NA	0	0	VariationID_308133
CACNA1C:511:R:Q	CACNA1C	511	R	Q	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190641
CACNA1C:518:R:C	CACNA1C	518	R	C	ENST00000347598	Long QT syndrome;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Long QT syndrome;not provided	maf_pathogenic	NA	NA	1	1	VariationID_190642
CACNA1C:518:R:C	CACNA1C	518	R	C	ENST00000347598	Long QT syndrome with hypertrophic cardiomyopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome with hypertrophic cardiomyopathy	maf_pathogenic	NA	NA	0	1	26253506,26253506
CACNA1C:518:R:H	CACNA1C	518	R	H	ENST00000347598	Familial hypertrophic cardiomyopathy 1;not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Familial hypertrophic cardiomyopathy 1;not provided	maf_pathogenic	NA	NA	0	1	VariationID_372313
CACNA1C:518:R:H	CACNA1C	518	R	H	ENST00000347598	Long QT syndrome with hypertrophic cardiomyopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome with hypertrophic cardiomyopathy	maf_pathogenic	NA	NA	0	1	26253506,26253506
CACNA1C:519:A:T	CACNA1C	519	A	T	ENST00000347598	Cardiovascular phenotype;not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.391e-05	3	Cardiovascular phenotype;not specified	unknown	NA	NA	0	0	VariationID_392350
CACNA1C:519:A:T	CACNA1C	519	A	T	ENST00000347598	Sudden unexpected death	NA	unknown	hgmd	unknown	DM	1.391e-05	1	Sudden unexpected death	unknown	NA	NA	0	0	28704380
CACNA1C:520:A:T	CACNA1C	520	A	T	ENST00000347598	Brugada syndrome;Timothy syndrome	NA	unknown	clinvar	unknown	Uncertain significance	9.274e-06	2	Brugada syndrome;Timothy syndrome	unknown	NA	NA	0	0	VariationID_308135
CACNA1C:528:W:G	CACNA1C	528	W	G	ENST00000347598	Primary dilated cardiomyopathy;Sudden cardiac death	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Primary dilated cardiomyopathy;Sudden cardiac death	maf_pathogenic	NA	NA	0	0	VariationID_492985
CACNA1C:537:N:D	CACNA1C	537	N	D	ENST00000347598	Inborn genetic diseases	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	1	VariationID_521136
CACNA1C:547:N:S	CACNA1C	547	N	S	ENST00000347598	Brugada syndrome (shorter-than-normal QT interval)	NA	unknown	hgmd	(Likely)pathogenic	DM	4.512e-06	2	Brugada syndrome (shorter-than-normal QT interval)	maf_pathogenic	NA	NA	0	1	23575362
CACNA1C:558:T:M	CACNA1C	558	T	M	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001268	2	not specified	unknown	NA	NA	0	0	VariationID_279722
CACNA1C:565:A:T	CACNA1C	565	A	T	ENST00000347598	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.768e-05	3	Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_190643
CACNA1C:568:T:M	CACNA1C	568	T	M	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.888e-06	2	not specified	unknown	NA	NA	0	0	VariationID_190644
CACNA1C:582:A:D	CACNA1C	582	A	D	ENST00000347598	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	NA	NA	1	1	24728418,24728418
CACNA1C:585:V:M	CACNA1C	585	V	M	ENST00000347598	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	3.693e-05	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_519274
CACNA1C:590:R:S	CACNA1C	590	R	S	ENST00000347598	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	1	Brugada syndrome	maf_pathogenic	NA	NA	0	0	24981977
CACNA1C:595:V:I	CACNA1C	595	V	I	ENST00000347598	Cardiovascular phenotype;Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001794	0	Cardiovascular phenotype;Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_190611
CACNA1C:608:T:I	CACNA1C	608	T	I	ENST00000347598	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.141e-06	3	Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_190645
CACNA1C:614:L:P	CACNA1C	614	L	P	ENST00000347598	Seizure Disorders;intellectual deficiency	NA	unknown	clinvar	unknown	Uncertain significance	0	1	Seizure Disorders;intellectual deficiency	maf_pathogenic	NA	NA	0	0	VariationID_374232
CACNA1C:614:L:R	CACNA1C	614	L	R	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_424187
CACNA1C:622:V:I	CACNA1C	622	V	I	ENST00000347598	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.452e-05	3	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome;not specified	unknown	NA	NA	0	0	VariationID_190646
CACNA1C:630:I:V	CACNA1C	630	I	V	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456948
CACNA1C:639:N:K	CACNA1C	639	N	K	ENST00000347598	Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Timothy syndrome;not specified	maf_pathogenic	NA	NA	0	0	VariationID_393134
CACNA1C:644:L:W	CACNA1C	644	L	W	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190647
CACNA1C:651:I:N	CACNA1C	651	I	N	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_411723
CACNA1C:664:I:V	CACNA1C	664	I	V	ENST00000347598	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_521481
CACNA1C:690:D:N	CACNA1C	690	D	N	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.183e-06	2	not specified	unknown	NA	NA	0	0	VariationID_194342
CACNA1C:705:G:R	CACNA1C	705	G	R	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190648
CACNA1C:745:L:P	CACNA1C	745	L	P	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_93395
CACNA1C:751:I:V	CACNA1C	751	I	V	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_194609
CACNA1C:762:L:F	CACNA1C	762	L	F	ENST00000347598	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	NA	NA	1	1	27390944
CACNA1C:771:E:G	CACNA1C	771	E	G	ENST00000347598	Cardiomyopathy%2C hypertrophic	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cardiomyopathy%2C hypertrophic	maf_pathogenic	NA	NA	0	1	24183960
CACNA1C:776:K:R	CACNA1C	776	K	R	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.158e-06	2	not specified	unknown	NA	NA	0	0	VariationID_190649
CACNA1C:778:L:P	CACNA1C	778	L	P	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_411729
CACNA1C:784:P:S	CACNA1C	784	P	S	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.982e-05	2	not specified	unknown	NA	NA	0	0	VariationID_420309
CACNA1C:799:S:Y	CACNA1C	799	S	Y	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.283e-05	2	not specified	unknown	NA	NA	0	0	VariationID_93397
CACNA1C:799:S:Y	CACNA1C	799	S	Y	ENST00000347598	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.283e-05	1	Long QT syndrome	unknown	NA	NA	0	0	27920829
CACNA1C:800:K:Q	CACNA1C	800	K	Q	ENST00000347598	Brugada syndrome;Timothy syndrome	NA	unknown	clinvar	unknown	Uncertain significance	1.303e-05	2	Brugada syndrome;Timothy syndrome	unknown	NA	NA	0	0	VariationID_308138
CACNA1C:813:G:R	CACNA1C	813	G	R	ENST00000347598	Brugada syndrome;Timothy syndrome	NA	unknown	clinvar	unknown	Likely benign	3.452e-05	2	Brugada syndrome;Timothy syndrome	unknown	NA	NA	0	0	VariationID_308139
CACNA1C:817:P:S	CACNA1C	817	P	S	ENST00000347598	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.002372	0	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not specified	unknown	NA	NA	0	0	VariationID_93399
CACNA1C:817:P:S	CACNA1C	817	P	S	ENST00000347598	Early repolarization syndrome	NA	unknown	hgmd	unknown	DM	0.002372	1	Early repolarization syndrome	unknown	NA	NA	0	0	24439875
CACNA1C:818:A:T	CACNA1C	818	A	T	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456954
CACNA1C:823:M:V	CACNA1C	823	M	V	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.176e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190650
CACNA1C:834:K:E	CACNA1C	834	K	E	ENST00000347598	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	1	Long QT syndrome	maf_pathogenic	NA	NA	0	0	23677916
CACNA1C:839:N:K	CACNA1C	839	N	K	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.825e-05	2	not specified	unknown	NA	NA	0	0	VariationID_190651
CACNA1C:856:G:S	CACNA1C	856	G	S	ENST00000347598	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.258e-05	3	Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_190652
CACNA1C:857:P:L	CACNA1C	857	P	L	ENST00000347598	longQT_syndrome	NA	gof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Long QT syndrome	maf_pathogenic	NA	NA	1	1	VariationID_222515
CACNA1C:857:P:L	CACNA1C	857	P	L	ENST00000347598	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	1	Long QT syndrome	maf_pathogenic	NA	NA	0	0	23677916,28600387
CACNA1C:857:P:R	CACNA1C	857	P	R	ENST00000347598	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	4.073e-06	2	Long QT syndrome	maf_pathogenic	NA	NA	1	1	23677916
CACNA1C:858:R:H	CACNA1C	858	R	H	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_190653
CACNA1C:858:R:H	CACNA1C	858	R	H	ENST00000347598	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	NA	NA	1	1	23174487,24728418,23631430
CACNA1C:860:R:G	CACNA1C	860	R	G	ENST00000347598	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_190702
CACNA1C:860:R:G	CACNA1C	860	R	G	ENST00000347598	Long QT%2C non-syndromic	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT%2C non-syndromic	maf_pathogenic	NA	NA	1	1	25633834
CACNA1C:860:R:P	CACNA1C	860	R	P	ENST00000347598	Long QT syndrome;not provided	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome;not provided	maf_pathogenic	NA	NA	0	0	VariationID_180284
CACNA1C:860:R:Q	CACNA1C	860	R	Q	ENST00000347598	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.629e-05	2	Long QT syndrome	unknown	NA	NA	0	0	28600387
CACNA1C:861:P:S	CACNA1C	861	P	S	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.071e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190655
CACNA1C:878:S:T	CACNA1C	878	S	T	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_411728
CACNA1C:895:R:H	CACNA1C	895	R	H	ENST00000347598	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Long QT syndrome;not specified	maf_pathogenic	NA	NA	0	0	VariationID_190656
CACNA1C:912:L:I	CACNA1C	912	L	I	ENST00000347598	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_191422
CACNA1C:932:I:T	CACNA1C	932	I	T	ENST00000347598	Cardiovascular phenotype;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Cardiovascular phenotype;not specified	maf_pathogenic	NA	NA	0	0	VariationID_190657
CACNA1C:938:I:T	CACNA1C	938	I	T	ENST00000347598	Brugada syndrome;Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.437e-05	3	Brugada syndrome;Timothy syndrome;not specified	unknown	NA	NA	0	0	VariationID_308140
CACNA1C:943:I:V	CACNA1C	943	I	V	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190658
CACNA1C:1009:S:G	CACNA1C	1009	S	G	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456958
CACNA1C:1013:V:L	CACNA1C	1013	V	L	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_450908
CACNA1C:1041:C:G	CACNA1C	1041	C	G	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_373244
CACNA1C:1087:A:V	CACNA1C	1087	A	V	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.000101	2	not specified	unknown	NA	NA	0	0	VariationID_421861
CACNA1C:1094:I:V	CACNA1C	1094	I	V	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.062e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190703
CACNA1C:1099:G:R	CACNA1C	1099	G	R	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	8.123e-06	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_456960
CACNA1C:1114:S:N	CACNA1C	1114	S	N	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456962
CACNA1C:1119:D:N	CACNA1C	1119	D	N	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.219e-05	2	not specified	unknown	NA	NA	0	0	VariationID_190704
CACNA1C:1131:V:I	CACNA1C	1131	V	I	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	8.154e-06	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_411719
CACNA1C:1135:E:G	CACNA1C	1135	E	G	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456963
CACNA1C:1135:E:K	CACNA1C	1135	E	K	ENST00000347598	Brugada syndrome;Long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome;Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_67554
CACNA1C:1135:E:K	CACNA1C	1135	E	K	ENST00000347598	Brugada syndrome (shorter-than-normal QT interval)	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome (shorter-than-normal QT interval)	maf_pathogenic	NA	NA	0	1	20817017
CACNA1C:1136:G:A	CACNA1C	1136	G	A	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_238173
CACNA1C:1143:R:C	CACNA1C	1143	R	C	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.388e-06	2	not specified	unknown	NA	NA	0	0	VariationID_373491
CACNA1C:1143:R:H	CACNA1C	1143	R	H	ENST00000347598	Brugada syndrome;Timothy syndrome	NA	unknown	clinvar	unknown	Likely benign	2.929e-05	2	Brugada syndrome;Timothy syndrome	unknown	NA	NA	0	0	VariationID_308144
CACNA1C:1145:I:V	CACNA1C	1145	I	V	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_166770
CACNA1C:1151:D:N	CACNA1C	1151	D	N	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	3.275e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_456964
CACNA1C:1153:G:D	CACNA1C	1153	G	D	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456965
CACNA1C:1159:R:H	CACNA1C	1159	R	H	ENST00000347598	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	26637798
CACNA1C:1162:I:L	CACNA1C	1162	I	L	ENST00000347598	Cardiovascular phenotype;not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.22e-05	3	Cardiovascular phenotype;not specified	unknown	NA	NA	0	0	VariationID_190659
CACNA1C:1173:I:V	CACNA1C	1173	I	V	ENST00000347598	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	4.062e-06	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_518805
CACNA1C:1174:A:V	CACNA1C	1174	A	V	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190660
CACNA1C:1182:V:L	CACNA1C	1182	V	L	ENST00000347598	ASD_noE	NA	gof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ASD_noE	maf_pathogenic	NA	NA	1	1	29942082
CACNA1C:1186:I:T	CACNA1C	1186	I	T	ENST00000347598	Inborn genetic diseases	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	1	VariationID_208682
CACNA1C:1186:I:T	CACNA1C	1186	I	T	ENST00000347598	Timothy syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Timothy syndrome	maf_pathogenic	NA	NA	1	1	24960393,25260352,25260352,26795593,25633834,25633834
CACNA1C:1186:I:V	CACNA1C	1186	I	V	ENST00000347598	Long QT%2C non-syndromic	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT%2C non-syndromic	maf_pathogenic	NA	NA	1	1	25633834
CACNA1C:1207:R:Q	CACNA1C	1207	R	Q	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.169e-06	2	not specified	unknown	NA	NA	0	0	VariationID_166771
CACNA1C:1231:K:E	CACNA1C	1231	K	E	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190661
CACNA1C:1246:F:L	CACNA1C	1246	F	L	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	4.061e-06	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_411725
CACNA1C:1247:V:I	CACNA1C	1247	V	I	ENST00000347598	Cardiovascular phenotype;Long QT syndrome;Short QT Syndrome 4;not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.249e-05	3	Cardiovascular phenotype;Long QT syndrome;Short QT Syndrome 4;not specified	unknown	NA	NA	0	0	VariationID_234984
CACNA1C:1254:I:N	CACNA1C	1254	I	N	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190705
CACNA1C:1262:G:S	CACNA1C	1262	G	S	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_430279
CACNA1C:1284:V:M	CACNA1C	1284	V	M	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	5.28e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_456967
CACNA1C:1311:V:I	CACNA1C	1311	V	I	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.068e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190662
CACNA1C:1315:I:V	CACNA1C	1315	I	V	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Benign	0.0003742	2	not specified	unknown	NA	NA	0	0	VariationID_190614
CACNA1C:1336:A:T	CACNA1C	1336	A	T	ENST00000347598	Brugada syndrome;Long QT syndrome;Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.825e-05	3	Brugada syndrome;Long QT syndrome;Timothy syndrome;not specified	unknown	NA	NA	0	0	VariationID_190664
CACNA1C:1340:V:L	CACNA1C	1340	V	L	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190665
CACNA1C:1350:E:K	CACNA1C	1350	E	K	ENST00000347598	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_263682
CACNA1C:1358:Q:H	CACNA1C	1358	Q	H	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190666
CACNA1C:1360:S:P	CACNA1C	1360	S	P	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	4.061e-06	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456968
CACNA1C:1363:M:V	CACNA1C	1363	M	V	ENST00000347598	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	8.122e-06	0	Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_190615
CACNA1C:1365:A:T	CACNA1C	1365	A	T	ENST00000347598	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	1.624e-05	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_518751
CACNA1C:1369:S:F	CACNA1C	1369	S	F	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_424540
CACNA1C:1395:R:Q	CACNA1C	1395	R	Q	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.223e-05	2	not specified	unknown	NA	NA	0	0	VariationID_190669
CACNA1C:1411:V:M	CACNA1C	1411	V	M	ENST00000347598	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_450063
CACNA1C:1411:V:M	CACNA1C	1411	V	M	ENST00000347598	CACNA1C-related condition	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	CACNA1C-related condition	maf_pathogenic	NA	NA	0	1	VariationID_522828
CACNA1C:1454:V:M	CACNA1C	1454	V	M	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.072e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190672
CACNA1C:1485:P:S	CACNA1C	1485	P	S	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.14e-06	2	not specified	unknown	NA	NA	0	0	VariationID_93406
CACNA1C:1489:T:M	CACNA1C	1489	T	M	ENST00000347598	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.626e-05	3	Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_166773
CACNA1C:1499:F:S	CACNA1C	1499	F	S	ENST00000347598	Cardiomyopathy%2C restrictive	NA	unknown	hgmd	unknown	DM	0	1	Cardiomyopathy%2C restrictive	maf_pathogenic	NA	NA	0	0	27662471
CACNA1C:1513:F:L	CACNA1C	1513	F	L	ENST00000347598	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_263449
CACNA1C:1519:F:L	CACNA1C	1519	F	L	ENST00000347598	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519536
CACNA1C:1521:A:G	CACNA1C	1521	A	G	ENST00000347598	Timothy syndrome	NA	gof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	2	Timothy syndrome	maf_pathogenic	NA	NA	1	1	VariationID_196966
CACNA1C:1521:A:G	CACNA1C	1521	A	G	ENST00000347598	Timothy syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Timothy syndrome	maf_pathogenic	NA	NA	1	1	22106044
CACNA1C:1521:A:P	CACNA1C	1521	A	P	ENST00000347598	DD_noE	NA	gof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_noE	maf_pathogenic	NA	NA	1	1	29942082
CACNA1C:1523:I:M	CACNA1C	1523	I	M	ENST00000347598	Long QT%2C non-syndromic	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT%2C non-syndromic	maf_pathogenic	NA	NA	1	1	25633834
CACNA1C:1544:E:K	CACNA1C	1544	E	K	ENST00000347598	Long QT%2C non-syndromic	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT%2C non-syndromic	maf_pathogenic	NA	NA	1	1	25633834
CACNA1C:1570:R:Q	CACNA1C	1570	R	Q	ENST00000347598	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	23849776
CACNA1C:1635:A:V	CACNA1C	1635	A	V	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	5.429e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_197059
CACNA1C:1639:K:N	CACNA1C	1639	K	N	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190673
CACNA1C:1655:P:S	CACNA1C	1655	P	S	ENST00000347598	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.176e-05	2	Long QT syndrome	unknown	NA	NA	0	0	23631430
CACNA1C:1661:V:I	CACNA1C	1661	V	I	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	8.162e-06	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_456973
CACNA1C:1691:P:S	CACNA1C	1691	P	S	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.628e-05	2	not specified	unknown	NA	NA	0	0	VariationID_190674
CACNA1C:1696:A:T	CACNA1C	1696	A	T	ENST00000347598	Long QT syndrome;Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.93e-05	3	Long QT syndrome;Timothy syndrome;not specified	unknown	NA	NA	0	0	VariationID_197406
CACNA1C:1710:G:R	CACNA1C	1710	G	R	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.221e-05	2	not specified	unknown	NA	NA	0	0	VariationID_190676
CACNA1C:1723:A:T	CACNA1C	1723	A	T	ENST00000347598	Brugada syndrome;Timothy syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0.0001056	2	Brugada syndrome;Timothy syndrome	unknown	NA	NA	0	0	VariationID_308159
CACNA1C:1726:E:G	CACNA1C	1726	E	G	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190708
CACNA1C:1728:D:G	CACNA1C	1728	D	G	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456974
CACNA1C:1737:A:T	CACNA1C	1737	A	T	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.437e-05	2	not specified	unknown	NA	NA	0	0	VariationID_190677
CACNA1C:1755:V:A	CACNA1C	1755	V	A	ENST00000347598	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.542e-05	3	Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_190622
CACNA1C:1755:V:I	CACNA1C	1755	V	I	ENST00000347598	Cardiovascular phenotype;Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002263	0	Cardiovascular phenotype;Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_190621
CACNA1C:1761:D:G	CACNA1C	1761	D	G	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.968e-05	2	not specified	unknown	NA	NA	0	0	VariationID_449139
CACNA1C:1761:D:N	CACNA1C	1761	D	N	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	8.507e-06	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_411731
CACNA1C:1762:G:S	CACNA1C	1762	G	S	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.853e-05	2	not specified	unknown	NA	NA	0	0	VariationID_281999
CACNA1C:1763:R:Q	CACNA1C	1763	R	Q	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.679e-05	2	not specified	unknown	NA	NA	0	0	VariationID_190685
CACNA1C:1763:R:W	CACNA1C	1763	R	W	ENST00000347598	Ductal breast carcinoma	NA	unknown	clinvar	unknown	Uncertain significance	0	1	Ductal breast carcinoma	maf_pathogenic	NA	NA	0	0	VariationID_221325
CACNA1C:1765:A:G	CACNA1C	1765	A	G	ENST00000347598	Brugada syndrome;Cardiomyopathy, restrictive;Long QT syndrome;Long QT syndrome;Timothy syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0008156	0	Brugada syndrome;Cardiomyopathy, restrictive;Long QT syndrome;Long QT syndrome;Timothy syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_93411
CACNA1C:1765:A:T	CACNA1C	1765	A	T	ENST00000347598	Cardiovascular phenotype;Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	7.1e-05	0	Cardiovascular phenotype;Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_215771
CACNA1C:1768:Q:E	CACNA1C	1768	Q	E	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_411724
CACNA1C:1781:A:V	CACNA1C	1781	A	V	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.465e-05	2	not specified	unknown	NA	NA	0	0	VariationID_190686
CACNA1C:1781:A:V	CACNA1C	1781	A	V	ENST00000347598	Cardiac arrhythmia	NA	unknown	hgmd	unknown	DM	2.465e-05	1	Cardiac arrhythmia	unknown	NA	NA	0	0	22584458
CACNA1C:1797:V:M	CACNA1C	1797	V	M	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456977
CACNA1C:1825:R:C	CACNA1C	1825	R	C	ENST00000347598	not provided	NA	unknown	clinvar	unknown	Uncertain significance	9.524e-05	2	not provided	unknown	NA	NA	0	0	VariationID_191424
CACNA1C:1828:R:C	CACNA1C	1828	R	C	ENST00000347598	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	5.003e-05	3	Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_190688
CACNA1C:1828:R:H	CACNA1C	1828	R	H	ENST00000347598	Brugada syndrome (shorter-than-normal QT interval)	NA	unknown	hgmd	unknown	DM	1.254e-05	2	Brugada syndrome (shorter-than-normal QT interval)	unknown	NA	NA	0	0	23575362
CACNA1C:1835:T:M	CACNA1C	1835	T	M	ENST00000347598	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.0009252	3	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_136635
CACNA1C:1843:G:R	CACNA1C	1843	G	R	ENST00000347598	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.003717	3	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not specified	unknown	NA	NA	0	0	VariationID_191565
CACNA1C:1851:R:P	CACNA1C	1851	R	P	ENST00000347598	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0.0001736	2	not provided	unknown	NA	NA	0	0	VariationID_191425
CACNA1C:1851:R:Q	CACNA1C	1851	R	Q	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	1.488e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_219520
CACNA1C:1852:V:A	CACNA1C	1852	V	A	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	1.006e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_411737
CACNA1C:1860:S:N	CACNA1C	1860	S	N	ENST00000347598	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_499185
CACNA1C:1862:N:S	CACNA1C	1862	N	S	ENST00000347598	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	1.241e-05	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_519549
CACNA1C:1863:R:T	CACNA1C	1863	R	T	ENST00000347598	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0.0003647	1	Long QT syndrome	unknown	NA	NA	0	0	VariationID_180285
CACNA1C:1867:R:Q	CACNA1C	1867	R	Q	NA	Cardiovascular phenotype;Long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	2.052e-05	3	Cardiovascular phenotype;Long QT syndrome	unknown	NA	NA	0	0	VariationID_456980
CACNA1C:1868:P:L	CACNA1C	1868	P	L	NA	not specified	NA	unknown	clinvar	unknown	Benign	0.7779	3	not specified	unknown	NA	NA	0	0	VariationID_136638
CACNA1C:1869:M:V	CACNA1C	1869	M	V	NA	not specified	NA	unknown	clinvar	unknown	Benign	0.808	3	not specified	unknown	NA	NA	0	0	VariationID_136639
CACNA1C:1874:A:V	CACNA1C	1874	A	V	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	1.643e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_456981
CACNA1C:1879:T:M	CACNA1C	1879	T	M	NA	Brugada syndrome;Timothy syndrome	NA	unknown	clinvar	unknown	Likely benign	9.432e-05	2	Brugada syndrome;Timothy syndrome	unknown	NA	NA	0	0	VariationID_308160
CACNA1C:1883:E:K	CACNA1C	1883	E	K	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	4.091e-06	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_411721
CACNA1C:1890:N:T	CACNA1C	1890	N	T	NA	Brugada syndrome;Timothy syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome;Timothy syndrome	maf_pathogenic	NA	NA	0	0	VariationID_308161
CACNA1C:1893:K:R	CACNA1C	1893	K	R	NA	not specified	NA	unknown	clinvar	unknown	Benign	0.9999	3	not specified	unknown	NA	NA	0	0	VariationID_136640
CACNA1C:1893:T:M	CACNA1C	1893	T	M	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	4.098e-06	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_222516
CACNA1C:1902:L:P	CACNA1C	1902	L	P	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456982
CACNA1C:1902:R:Q	CACNA1C	1902	R	Q	NA	Cardiovascular phenotype;Long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	2.052e-05	3	Cardiovascular phenotype;Long QT syndrome	unknown	NA	NA	0	0	VariationID_456980
CACNA1C:1909:A:V	CACNA1C	1909	A	V	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	1.643e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_456981
CACNA1C:1914:T:M	CACNA1C	1914	T	M	NA	Brugada syndrome;Timothy syndrome	NA	unknown	clinvar	unknown	Likely benign	9.432e-05	2	Brugada syndrome;Timothy syndrome	unknown	NA	NA	0	0	VariationID_308160
CACNA1C:1915:R:Q	CACNA1C	1915	R	Q	NA	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	8.132e-06	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_518667
CACNA1C:1915:R:W	CACNA1C	1915	R	W	NA	Ventricular tachycardia	NA	unknown	clinvar	unknown	Uncertain significance	4.067e-05	1	Ventricular tachycardia	unknown	NA	NA	0	0	VariationID_180286
CACNA1C:1918:E:K	CACNA1C	1918	E	K	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	4.091e-06	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_411721
CACNA1C:1918:T:M	CACNA1C	1918	T	M	NA	Cardiovascular phenotype;Long QT syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Benign	0.001086	3	Cardiovascular phenotype;Long QT syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_191567
CACNA1C:1918:T:M	CACNA1C	1918	T	M	NA	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.001086	1	Long QT syndrome	unknown	NA	NA	0	0	27920829
CACNA1C:1924:K:E	CACNA1C	1924	K	E	NA	Sudden cardiac death	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Sudden cardiac death	maf_pathogenic	NA	NA	0	0	VariationID_222517
CACNA1C:1925:N:T	CACNA1C	1925	N	T	NA	Brugada syndrome;Timothy syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome;Timothy syndrome	maf_pathogenic	NA	NA	0	0	VariationID_308161
CACNA1C:1928:R:Q	CACNA1C	1928	R	Q	NA	Brugada syndrome;Brugada syndrome (shorter-than-normal QT interval);Long QT syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.0006465	3	Brugada syndrome;Brugada syndrome (shorter-than-normal QT interval);Long QT syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_67555
CACNA1C:1928:R:Q	CACNA1C	1928	R	Q	NA	Brugada syndrome (shorter-than-normal QT interval)	NA	unknown	hgmd	unknown	DM	0.0006465	1	Brugada syndrome (shorter-than-normal QT interval)	unknown	NA	NA	0	0	20817017,25637381,24055113,23414114
CACNA1C:1928:T:M	CACNA1C	1928	T	M	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	4.098e-06	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_222516
CACNA1C:1930:S:P	CACNA1C	1930	S	P	NA	Brugada syndrome;Long QT syndrome;Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001464	0	Brugada syndrome;Long QT syndrome;Timothy syndrome;not specified	unknown	NA	NA	0	0	VariationID_197498
CACNA1C:1937:L:P	CACNA1C	1937	L	P	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456982
CACNA1C:1937:R:C	CACNA1C	1937	R	C	NA	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.0101	3	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_93417
CACNA1C:1937:R:C	CACNA1C	1937	R	C	NA	Sudden cardiac death	NA	unknown	hgmd	unknown	DM	0.0101	1	Sudden cardiac death	unknown	NA	NA	0	0	25447171,25661095
CACNA1C:1939:A:P	CACNA1C	1939	A	P	NA	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.034e-05	3	Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_279723
CACNA1C:1950:R:Q	CACNA1C	1950	R	Q	NA	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	8.132e-06	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_518667
CACNA1C:1950:R:W	CACNA1C	1950	R	W	NA	Ventricular tachycardia	NA	unknown	clinvar	unknown	Uncertain significance	4.067e-05	1	Ventricular tachycardia	unknown	NA	NA	0	0	VariationID_180286
CACNA1C:1953:T:M	CACNA1C	1953	T	M	NA	Cardiovascular phenotype;Long QT syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Benign	0.001086	3	Cardiovascular phenotype;Long QT syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_191567
CACNA1C:1953:T:M	CACNA1C	1953	T	M	NA	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.001086	1	Long QT syndrome	unknown	NA	NA	0	0	27920829
CACNA1C:1954:R:Q	CACNA1C	1954	R	Q	NA	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	9.34e-05	3	Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_402467
CACNA1C:1954:R:Q	CACNA1C	1954	R	Q	NA	longQT_syndrome	NA	gof	hgmd	unknown	DM	9.34e-05	1	Long QT syndrome	unknown	NA	NA	0	0	23677916
CACNA1C:1958:R:Q	CACNA1C	1958	R	Q	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	7.716e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_456983
CACNA1C:1959:G:R	CACNA1C	1959	G	R	NA	Brugada syndrome 3;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Uncertain significance	5.685e-05	3	Brugada syndrome 3;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_191427
CACNA1C:1959:G:R	CACNA1C	1959	G	R	NA	Cardiac arrhythmia	NA	unknown	hgmd	unknown	DM	5.685e-05	2	Cardiac arrhythmia	unknown	NA	NA	0	0	25184293,26230511,27502440,27502440
CACNA1C:1959:K:E	CACNA1C	1959	K	E	NA	Sudden cardiac death	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Sudden cardiac death	maf_pathogenic	NA	NA	0	0	VariationID_222517
CACNA1C:1961:D:N	CACNA1C	1961	D	N	ENST00000347598	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	4.061e-05	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_519491
CACNA1C:1963:R:Q	CACNA1C	1963	R	Q	NA	Brugada syndrome;Brugada syndrome (shorter-than-normal QT interval);Long QT syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.0006465	3	Brugada syndrome;Brugada syndrome (shorter-than-normal QT interval);Long QT syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_67555
CACNA1C:1963:R:Q	CACNA1C	1963	R	Q	NA	Brugada syndrome (shorter-than-normal QT interval)	NA	unknown	hgmd	unknown	DM	0.0006465	1	Brugada syndrome (shorter-than-normal QT interval)	unknown	NA	NA	0	0	20817017,25637381,24055113,23414114
CACNA1C:1964:Q:R	CACNA1C	1964	Q	R	ENST00000347598	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Likely benign	0.0002112	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_263515
CACNA1C:1964:Q:R	CACNA1C	1964	Q	R	ENST00000347598	Sudden unexplained death syndrome	NA	unknown	hgmd	unknown	DM	0.0002112	1	Sudden unexplained death syndrome	unknown	NA	NA	0	0	27005929,28493952
CACNA1C:1965:S:P	CACNA1C	1965	S	P	NA	Brugada syndrome;Long QT syndrome;Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001464	0	Brugada syndrome;Long QT syndrome;Timothy syndrome;not specified	unknown	NA	NA	0	0	VariationID_197498
CACNA1C:1972:R:C	CACNA1C	1972	R	C	NA	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.0101	3	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_93417
CACNA1C:1972:R:C	CACNA1C	1972	R	C	NA	Sudden cardiac death	NA	unknown	hgmd	unknown	DM	0.0101	1	Sudden cardiac death	unknown	NA	NA	0	0	25447171,25661095
CACNA1C:1974:A:P	CACNA1C	1974	A	P	NA	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.034e-05	3	Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_279723
CACNA1C:1989:R:Q	CACNA1C	1989	R	Q	NA	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	9.34e-05	3	Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_402467
CACNA1C:1989:R:Q	CACNA1C	1989	R	Q	NA	longQT_syndrome	NA	gof	hgmd	unknown	DM	9.34e-05	1	Long QT syndrome	unknown	NA	NA	0	0	23677916
CACNA1C:1991:H:Y	CACNA1C	1991	H	Y	NA	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	4.104e-06	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519485
CACNA1C:1993:R:Q	CACNA1C	1993	R	Q	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	7.716e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_456983
CACNA1C:1994:G:R	CACNA1C	1994	G	R	NA	Brugada syndrome 3;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Uncertain significance	5.685e-05	3	Brugada syndrome 3;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_191427
CACNA1C:1994:G:R	CACNA1C	1994	G	R	NA	Cardiac arrhythmia	NA	unknown	hgmd	unknown	DM	5.685e-05	2	Cardiac arrhythmia	unknown	NA	NA	0	0	25184293,26230511,27502440,27502440
CACNA1C:1996:D:N	CACNA1C	1996	D	N	NA	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	4.061e-05	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_519491
CACNA1C:1999:Q:R	CACNA1C	1999	Q	R	NA	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Likely benign	0.0002112	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_263515
CACNA1C:1999:Q:R	CACNA1C	1999	Q	R	NA	Sudden unexplained death syndrome	NA	unknown	hgmd	unknown	DM	0.0002112	1	Sudden unexplained death syndrome	unknown	NA	NA	0	0	27005929,28493952
CACNA1C:2006:T:I	CACNA1C	2006	T	I	NA	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_264630
CACNA1C:2017:V:I	CACNA1C	2017	V	I	NA	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Likely benign	1.224e-05	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_519546
CACNA1C:2021:R:P	CACNA1C	2021	R	P	NA	Cardiomyopathy with early repolarisation & short QT syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cardiomyopathy with early repolarisation & short QT syndrome	maf_pathogenic	NA	NA	0	1	28427417
CACNA1C:2021:R:Q	CACNA1C	2021	R	Q	NA	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified;short QT syndrome	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.003434	0	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified;short QT syndrome	unknown	NA	NA	0	0	VariationID_93419
CACNA1C:2021:R:Q	CACNA1C	2021	R	Q	NA	Sudden cardiac death	NA	unknown	hgmd	unknown	DM	0.003434	1	Sudden cardiac death	unknown	NA	NA	0	0	25447171
CACNA1C:2023:E:A	CACNA1C	2023	E	A	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456986
CACNA1C:2025:V:I	CACNA1C	2025	V	I	NA	not specified	NA	unknown	clinvar	unknown	Likely benign	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190627
CACNA1C:2026:H:Y	CACNA1C	2026	H	Y	NA	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	4.104e-06	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519485
CACNA1C:2034:S:N	CACNA1C	2034	S	N	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	3.253e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_411720
CACNA1C:2040:C:F	CACNA1C	2040	C	F	NA	Brugada syndrome;Long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	8.956e-05	3	Brugada syndrome;Long QT syndrome	unknown	NA	NA	0	0	VariationID_190628
CACNA1C:2041:T:I	CACNA1C	2041	T	I	NA	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_264630
CACNA1C:2047:T:I	CACNA1C	2047	T	I	NA	Cardiovascular phenotype;Long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	5.721e-05	3	Cardiovascular phenotype;Long QT syndrome	unknown	NA	NA	0	0	VariationID_238176
CACNA1C:2051:G:R	CACNA1C	2051	G	R	NA	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome	NA	unknown	clinvar	unknown	Uncertain significance	1.229e-05	3	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome	unknown	NA	NA	0	0	VariationID_263770
CACNA1C:2052:G:V	CACNA1C	2052	G	V	NA	Cardiovascular phenotype;Long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	7.794e-05	3	Cardiovascular phenotype;Long QT syndrome	unknown	NA	NA	0	0	VariationID_456989
CACNA1C:2052:V:I	CACNA1C	2052	V	I	NA	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Likely benign	1.224e-05	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_519546
CACNA1C:2055:A:T	CACNA1C	2055	A	T	NA	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.236e-05	2	not specified	unknown	NA	NA	0	0	VariationID_439454
CACNA1C:2056:A:T	CACNA1C	2056	A	T	NA	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	8.253e-06	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_518697
CACNA1C:2056:R:P	CACNA1C	2056	R	P	NA	Cardiomyopathy with early repolarisation & short QT syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cardiomyopathy with early repolarisation & short QT syndrome	maf_pathogenic	NA	NA	0	1	28427417
CACNA1C:2056:R:Q	CACNA1C	2056	R	Q	NA	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified;short QT syndrome	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.003434	0	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided;not specified;short QT syndrome	unknown	NA	NA	0	0	VariationID_93419
CACNA1C:2056:R:Q	CACNA1C	2056	R	Q	NA	Sudden cardiac death	NA	unknown	hgmd	unknown	DM	0.003434	1	Sudden cardiac death	unknown	NA	NA	0	0	25447171
CACNA1C:2058:E:A	CACNA1C	2058	E	A	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456986
CACNA1C:2059:V:I	CACNA1C	2059	V	I	NA	Cardiac arrhythmia;Cardiovascular phenotype	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	4.161e-06	0	Cardiac arrhythmia;Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_35770
CACNA1C:2060:R:W	CACNA1C	2060	R	W	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	2.504e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_411718
CACNA1C:2060:V:I	CACNA1C	2060	V	I	NA	not specified	NA	unknown	clinvar	unknown	Likely benign	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190627
CACNA1C:2062:V:I	CACNA1C	2062	V	I	NA	Brugada syndrome;Brugada syndrome (shorter-than-normal QT interval);Cardiovascular phenotype;Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0003531	0	Brugada syndrome;Brugada syndrome (shorter-than-normal QT interval);Cardiovascular phenotype;Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_67556
CACNA1C:2062:V:I	CACNA1C	2062	V	I	NA	Brugada syndrome (shorter-than-normal QT interval)	NA	unknown	hgmd	unknown	DM	0.0003531	1	Brugada syndrome (shorter-than-normal QT interval)	unknown	NA	NA	0	0	20817017,25637381,24055113,23414114
CACNA1C:2065:M:T	CACNA1C	2065	M	T	NA	not specified	NA	unknown	clinvar	unknown	Likely benign	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190629
CACNA1C:2068:S:N	CACNA1C	2068	S	N	ENST00000347598	Cardiovascular phenotype;Long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	4.348e-05	3	Cardiovascular phenotype;Long QT syndrome	unknown	NA	NA	0	0	VariationID_456992
CACNA1C:2068:S:N	CACNA1C	2068	S	N	ENST00000347598	Sudden cardiac death	NA	unknown	hgmd	unknown	DM	4.348e-05	1	Sudden cardiac death	unknown	NA	NA	0	0	24981977
CACNA1C:2069:S:N	CACNA1C	2069	S	N	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	3.253e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_411720
CACNA1C:2070:A:P	CACNA1C	2070	A	P	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	1.319e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_411732
CACNA1C:2075:C:F	CACNA1C	2075	C	F	NA	Brugada syndrome;Long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	8.956e-05	3	Brugada syndrome;Long QT syndrome	unknown	NA	NA	0	0	VariationID_190628
CACNA1C:2082:T:I	CACNA1C	2082	T	I	NA	Cardiovascular phenotype;Long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	5.721e-05	3	Cardiovascular phenotype;Long QT syndrome	unknown	NA	NA	0	0	VariationID_238176
CACNA1C:2086:G:R	CACNA1C	2086	G	R	NA	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome	NA	unknown	clinvar	unknown	Uncertain significance	1.229e-05	3	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome	unknown	NA	NA	0	0	VariationID_263770
CACNA1C:2087:A:G	CACNA1C	2087	A	G	NA	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.451e-05	3	Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_197538
CACNA1C:2087:G:V	CACNA1C	2087	G	V	NA	Cardiovascular phenotype;Long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	7.794e-05	3	Cardiovascular phenotype;Long QT syndrome	unknown	NA	NA	0	0	VariationID_456989
CACNA1C:2090:A:T	CACNA1C	2090	A	T	NA	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.236e-05	2	not specified	unknown	NA	NA	0	0	VariationID_439454
CACNA1C:2091:A:T	CACNA1C	2091	A	T	NA	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	8.253e-06	2	Cardiovascular phenotype	unknown	NA	NA	0	0	VariationID_518697
CACNA1C:2094:V:I	CACNA1C	2094	V	I	NA	Cardiac arrhythmia;Cardiovascular phenotype	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	4.161e-06	0	Cardiac arrhythmia;Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_35770
CACNA1C:2095:R:W	CACNA1C	2095	R	W	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	2.504e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_411718
CACNA1C:2097:V:I	CACNA1C	2097	V	I	NA	Brugada syndrome;Brugada syndrome (shorter-than-normal QT interval);Cardiovascular phenotype;Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0003531	0	Brugada syndrome;Brugada syndrome (shorter-than-normal QT interval);Cardiovascular phenotype;Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_67556
CACNA1C:2097:V:I	CACNA1C	2097	V	I	NA	Brugada syndrome (shorter-than-normal QT interval)	NA	unknown	hgmd	unknown	DM	0.0003531	1	Brugada syndrome (shorter-than-normal QT interval)	unknown	NA	NA	0	0	20817017,25637381,24055113,23414114
CACNA1C:2100:M:T	CACNA1C	2100	M	T	NA	not specified	NA	unknown	clinvar	unknown	Likely benign	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_190629
CACNA1C:2102:K:R	CACNA1C	2102	K	R	NA	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	9.195e-05	3	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome;not specified	unknown	NA	NA	0	0	VariationID_197560
CACNA1C:2103:S:N	CACNA1C	2103	S	N	NA	Cardiovascular phenotype;Long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	4.348e-05	3	Cardiovascular phenotype;Long QT syndrome	unknown	NA	NA	0	0	VariationID_456992
CACNA1C:2103:S:N	CACNA1C	2103	S	N	NA	Sudden cardiac death	NA	unknown	hgmd	unknown	DM	4.348e-05	1	Sudden cardiac death	unknown	NA	NA	0	0	24981977
CACNA1C:2105:A:P	CACNA1C	2105	A	P	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	1.319e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_411732
CACNA1C:2113:D:N	CACNA1C	2113	D	N	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_411735
CACNA1C:2114:A:V	CACNA1C	2114	A	V	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456994
CACNA1C:2122:A:G	CACNA1C	2122	A	G	NA	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.451e-05	3	Long QT syndrome;not specified	unknown	NA	NA	0	0	VariationID_197538
CACNA1C:2128:N:S	CACNA1C	2128	N	S	NA	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome	maf_pathogenic	NA	NA	0	0	VariationID_308164
CACNA1C:2132:G:R	CACNA1C	2132	G	R	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_411726
CACNA1C:2137:K:R	CACNA1C	2137	K	R	NA	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	9.195e-05	3	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome;not specified	unknown	NA	NA	0	0	VariationID_197560
CACNA1C:2139:N:S	CACNA1C	2139	N	S	NA	Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0004881	0	Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not specified	unknown	NA	NA	0	0	VariationID_216482
CACNA1C:2139:N:S	CACNA1C	2139	N	S	NA	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	0.0004881	2	Sudden unexplained death	unknown	NA	NA	0	0	27218670,27218670
CACNA1C:2140:G:A	CACNA1C	2140	G	A	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_411716
CACNA1C:2140:G:D	CACNA1C	2140	G	D	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	7.403e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_456996
CACNA1C:2148:D:N	CACNA1C	2148	D	N	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_411735
CACNA1C:2149:A:V	CACNA1C	2149	A	V	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456994
CACNA1C:2151:A:S	CACNA1C	2151	A	S	NA	Cardiac arrhythmia;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Cardiac arrhythmia;not specified	maf_pathogenic	NA	NA	0	0	VariationID_35771
CACNA1C:2156:A:V	CACNA1C	2156	A	V	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456997
CACNA1C:2160:E:Q	CACNA1C	2160	E	Q	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456998
CACNA1C:2161:D:A	CACNA1C	2161	D	A	NA	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_501385
CACNA1C:2163:G:A	CACNA1C	2163	G	A	NA	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001527	0	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided	unknown	NA	NA	0	0	VariationID_191428
CACNA1C:2163:N:S	CACNA1C	2163	N	S	NA	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Brugada syndrome;Cardiovascular phenotype;Timothy syndrome	maf_pathogenic	NA	NA	0	0	VariationID_308164
CACNA1C:2167:A:T	CACNA1C	2167	A	T	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456999
CACNA1C:2167:G:R	CACNA1C	2167	G	R	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_411726
CACNA1C:2172:S:N	CACNA1C	2172	S	N	ENST00000347598	Brugada syndrome;Timothy syndrome	NA	unknown	clinvar	unknown	Uncertain significance	4.14e-06	2	Brugada syndrome;Timothy syndrome	maf_pathogenic	NA	NA	0	0	VariationID_308165
CACNA1C:2174:N:S	CACNA1C	2174	N	S	NA	Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0004881	0	Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not specified	unknown	NA	NA	0	0	VariationID_216482
CACNA1C:2174:N:S	CACNA1C	2174	N	S	NA	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	0.0004881	2	Sudden unexplained death	unknown	NA	NA	0	0	27218670,27218670
CACNA1C:2175:G:A	CACNA1C	2175	G	A	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_411716
CACNA1C:2175:G:D	CACNA1C	2175	G	D	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	7.403e-05	2	Long QT syndrome	unknown	NA	NA	0	0	VariationID_456996
CACNA1C:2178:D:N	CACNA1C	2178	D	N	NA	brugada_syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0.000122	3	Brugada syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_67557
CACNA1C:2178:D:N	CACNA1C	2178	D	N	NA	Brugada syndrome (shorter-than-normal QT interval)	NA	unknown	hgmd	unknown	DM	0.000122	2	Brugada syndrome (shorter-than-normal QT interval)	unknown	NA	NA	0	0	20817017
CACNA1C:2184:S:N	CACNA1C	2184	S	N	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_457000
CACNA1C:2186:A:S	CACNA1C	2186	A	S	NA	Cardiac arrhythmia;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Cardiac arrhythmia;not specified	maf_pathogenic	NA	NA	0	0	VariationID_35771
CACNA1C:2191:A:V	CACNA1C	2191	A	V	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456997
CACNA1C:2195:E:Q	CACNA1C	2195	E	Q	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456998
CACNA1C:2196:D:A	CACNA1C	2196	D	A	NA	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_501385
CACNA1C:2198:G:A	CACNA1C	2198	G	A	NA	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001527	0	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided	unknown	NA	NA	0	0	VariationID_191428
CACNA1C:2202:A:T	CACNA1C	2202	A	T	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_456999
CACNA1C:2207:S:N	CACNA1C	2207	S	N	NA	Brugada syndrome;Timothy syndrome	NA	unknown	clinvar	unknown	Uncertain significance	4.14e-06	2	Brugada syndrome;Timothy syndrome	maf_pathogenic	NA	NA	0	0	VariationID_308165
CACNA1C:2213:D:N	CACNA1C	2213	D	N	NA	brugada_syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0.000122	3	Brugada syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_67557
CACNA1C:2213:D:N	CACNA1C	2213	D	N	NA	Brugada syndrome (shorter-than-normal QT interval)	NA	unknown	hgmd	unknown	DM	0.000122	2	Brugada syndrome (shorter-than-normal QT interval)	unknown	NA	NA	0	0	20817017
CACNA1C:2219:S:N	CACNA1C	2219	S	N	NA	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_457000
CACNA1D:259:V:D	CACNA1D	259	V	D	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Azizan et al. Nat Genet 2013
CACNA1D:259:V:G	CACNA1D	259	V	G	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Nanba et al. J Clin Endocrinol Metabol 2018
CACNA1D:342:G:R	CACNA1D	342	G	R	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.062e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_432376
CACNA1D:401:V:L	CACNA1D	401	V	L	ENST00000350061;NM_001128840.2	autism	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	autism	maf_pathogenic	NA	NA	1	1	Pinggera et al. Hum Mol Genet 2017
CACNA1D:403:G:R	CACNA1D	403	G	R	ENST00000350061;NM_001128840.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_91930
CACNA1D:403:G:R	CACNA1D	403	G	R	ENST00000350061;NM_001128840.2	APCC_APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APCC_APA	maf_pathogenic	NA	NA	1	1	Scholl et al. Nat Genet 2013 und diverse andere
CACNA1D:407:G:R	CACNA1D	407	G	R	ENST00000350061;NM_001128840.2	autism	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	autism	maf_pathogenic	NA	NA	1	1	Pinggera et al. Biol Psychiatry 2015
CACNA1D:410:S:L	CACNA1D	410	S	L	ENST00000350061;NM_001128840.2	APCC	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APCC	maf_pathogenic	NA	NA	1	1	Omata et al. J Endocr Soc 2017
CACNA1D:451:E:Q	CACNA1D	451	E	Q	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001381	2	not specified	unknown	NA	NA	0	0	VariationID_228464
CACNA1D:457:G:R	CACNA1D	457	G	R	ENST00000350061;NM_001128840.2	APCC	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APCC	maf_pathogenic	NA	NA	1	1	Omata et al. J Endocr Soc 2017
CACNA1D:460:G:S	CACNA1D	460	G	S	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002194	0	not specified	unknown	NA	NA	0	0	VariationID_252494
CACNA1D:463:N:K	CACNA1D	463	N	K	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001178	2	not specified	unknown	NA	NA	0	0	VariationID_504802
CACNA1D:493:C:S	CACNA1D	493	C	S	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001259	2	not specified	unknown	NA	NA	0	0	VariationID_504803
CACNA1D:519:A:T	CACNA1D	519	A	T	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.121e-06	2	not specified	unknown	NA	NA	0	0	VariationID_504804
CACNA1D:548:P:L	CACNA1D	548	P	L	ENST00000350061;NM_001128840.2	APCC	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APCC	maf_pathogenic	NA	NA	1	1	Omata et al. J Endocr Soc 2017
CACNA1D:584:V:I	CACNA1D	584	V	I	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.842e-05	2	not specified	unknown	NA	NA	0	0	VariationID_506011
CACNA1D:595:V:G	CACNA1D	595	V	G	ENST00000350061;NM_001128840.2	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1D:613:L:Q	CACNA1D	613	L	Q	ENST00000350061;NM_001128840.2	APCC	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APCC	maf_pathogenic	NA	NA	1	1	Nishimoto et al. PNAS 2015
CACNA1D:619:R:W	CACNA1D	619	R	W	ENST00000350061;NM_001128840.2	APCC	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APCC	maf_pathogenic	NA	NA	1	1	Nishimoto et al. PNAS 2015
CACNA1D:652:S:L	CACNA1D	652	S	L	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Fernandes-Rosa et al. Hypertension 2014
CACNA1D:655:L:P	CACNA1D	655	L	P	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Fernandes-Rosa et al. Hypertension 2014
CACNA1D:728:V:I	CACNA1D	728	V	I	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	unknown	unknown	0.0003776	unknown	APA	unknown	NA	NA	0	0	Wang et al. Medicine (Baltimore) 2015
CACNA1D:741:Y:C	CACNA1D	741	Y	C	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Fernandes-Rosa et al. Hypertension 2014
CACNA1D:747:F:C	CACNA1D	747	F	C	ENST00000350061;NM_001128840.2	APCC_APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APCC_APA	maf_pathogenic	NA	NA	1	1	Omata et al. J Endocr Soc 2017, Nanba et al. J Clin Endocrinol Metabol 2016
CACNA1D:747:F:L	CACNA1D	747	F	L	ENST00000350061;NM_001128840.2	APCC_APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APCC_APA	maf_pathogenic	NA	NA	1	1	Azizan et al. Nat Genet 2013, Akerstr�m et al. Endocr Relat Cancer 2015, Nishimoto et al. PNAS 2015
CACNA1D:747:F:V	CACNA1D	747	F	V	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Scholl et al. Nat Genet 2013, Scholl et al. Clin Endocrinol 2015
CACNA1D:749:A:G	CACNA1D	749	A	G	ENST00000350061;NM_001128840.2	Autism	NA	unknown	hgmd	unknown	DM	0	1	Autism	maf_pathogenic	NA	NA	0	0	22495309,27255217,25620733,24859339
CACNA1D:749:A:G	CACNA1D	749	A	G	ENST00000350061;NM_001128840.2	ASD_noE	NA	gof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ASD_noE	maf_pathogenic	NA	NA	1	1	29942082
CACNA1D:749:A:G	CACNA1D	749	A	G	ENST00000350061;NM_001128840.2	autism	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	autism	maf_pathogenic	NA	NA	1	1	O'Roak et al. Nature 2012, Pinggera et al. Biol Psychiatry 2015
CACNA1D:749:A:T	CACNA1D	749	A	T	ENST00000350061;NM_001128840.2	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_421144
CACNA1D:750:I:F	CACNA1D	750	I	F	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Fernandes-Rosa et al. Hypertension 2014
CACNA1D:750:I:M	CACNA1D	750	I	M	ENST00000350061;NM_001128840.2	Primary aldosteronism, seizures, and neurologic abnormalities;not provided	NA	unknown	clinvar	unknown	Pathogenic/Likely pathogenic	0	1	Primary aldosteronism, seizures, and neurologic abnormalities;not provided	maf_pathogenic	NA	NA	0	0	VariationID_66073
CACNA1D:750:I:M	CACNA1D	750	I	M	ENST00000350061;NM_001128840.2	Primary aldosteronism	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Primary aldosteronism	maf_pathogenic	NA	NA	0	1	23913001
CACNA1D:750:I:M	CACNA1D	750	I	M	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Scholl et al. Nat Genet 2013, Azizan et al. Nat Genet 2013
CACNA1D:750:I:M	CACNA1D	750	I	M	ENST00000350061;NM_001128840.2	PASNA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	PASNA	maf_pathogenic	NA	NA	1	1	Scholl et al. Nat Genet 2013. Dekkers et al. J Clin Endocr Metab 2014 call this ""Ile1750Met"", but this should be 750 based on cDNA position given in their paper.
CACNA1D:752:V:I	CACNA1D	752	V	I	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_505622
CACNA1D:823:V:M	CACNA1D	823	V	M	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001828	3	not specified	unknown	NA	NA	0	0	VariationID_500589
CACNA1D:851:L:W	CACNA1D	851	L	W	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Likely benign	0.0007189	2	not specified	unknown	NA	NA	0	0	VariationID_227197
CACNA1D:910:R:H	CACNA1D	910	R	H	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.000468	2	not specified	unknown	NA	NA	0	0	VariationID_504806
CACNA1D:979:V:D	CACNA1D	979	V	D	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Fernandes-Rosa et al. Hypertension 2014
CACNA1D:981:K:N	CACNA1D	981	K	N	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Fernandes-Rosa et al. Hypertension 2014
CACNA1D:990:R:H	CACNA1D	990	R	H	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Azizan et al. Nat Genet 2013
CACNA1D:998:A:V	CACNA1D	998	A	V	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Fernandes-Rosa et al. Hypertension 2014
CACNA1D:1085:D:G	CACNA1D	1085	D	G	ENST00000350061;NM_001128840.2	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_521537
CACNA1D:1099:T:M	CACNA1D	1099	T	M	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.124e-06	2	not specified	unknown	NA	NA	0	0	VariationID_373014
CACNA1D:1121:I:V	CACNA1D	1121	I	V	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Benign	0.0006701	2	not specified	unknown	NA	NA	0	0	VariationID_227200
CACNA1D:1147:F:C	CACNA1D	1147	F	C	ENST00000350061;NM_001128840.2	APCC	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APCC	maf_pathogenic	NA	NA	1	1	Omata et al. J Endocr Soc 2017
CACNA1D:1151:V:F	CACNA1D	1151	V	F	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Fernandes-Rosa et al. Hypertension 2014
CACNA1D:1152:I:N	CACNA1D	1152	I	N	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Fernandes-Rosa et al. Hypertension 2014
CACNA1D:1153:V:G	CACNA1D	1153	V	G	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Tan et al. Hypertension 2017
CACNA1D:1234:N:S	CACNA1D	1234	N	S	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0005563	2	not specified	unknown	NA	NA	0	0	VariationID_504807
CACNA1D:1237:M:V	CACNA1D	1237	M	V	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.436e-05	2	not specified	unknown	NA	NA	0	0	VariationID_517201
CACNA1D:1274:S:F	CACNA1D	1274	S	F	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0002152	2	not specified	unknown	NA	NA	0	0	VariationID_228465
CACNA1D:1288:E:K	CACNA1D	1288	E	K	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.624e-05	2	not specified	unknown	NA	NA	0	0	VariationID_504961
CACNA1D:1298:P:S	CACNA1D	1298	P	S	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.005279	3	not specified	unknown	NA	NA	0	0	VariationID_226474
CACNA1D:1351:P:R	CACNA1D	1351	P	R	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Azizan et al. Nat Genet 2013
CACNA1D:1353:V:M	CACNA1D	1353	V	M	ENST00000350061;NM_001128840.2	APCC_APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APCC_APA	maf_pathogenic	NA	NA	1	1	Scholl et al. Nat Genet 2013, Akerstr�m et al. Endocr Relat Cancer 2015, Fernandes-Rosa et al. Hypertension 2014, Nishimoto et al. PNAS 2015
CACNA1D:1367:I:T	CACNA1D	1367	I	T	ENST00000350061;NM_001128840.2	APCC	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APCC	maf_pathogenic	NA	NA	1	1	Omata et al. J Endocr Soc 2017
CACNA1D:1369:M:I	CACNA1D	1369	M	I	ENST00000350061;NM_001128840.2	APA	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APA	maf_pathogenic	NA	NA	1	1	Azizan et al. Nat Genet 2013
CACNA1D:1514:P:L	CACNA1D	1514	P	L	ENST00000350061;NM_001128840.2	APCC	NA	gof	SchollU_CACNA1D	(Likely)pathogenic	unknown	0	unknown	APCC	maf_pathogenic	NA	NA	1	1	Omata et al. J Endocr Soc 2017
CACNA1D:1542:G:R	CACNA1D	1542	G	R	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_505184
CACNA1D:1566:L:V	CACNA1D	1566	L	V	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_499780
CACNA1D:1575:A:D	CACNA1D	1575	A	D	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_421680
CACNA1D:1672:R:Q	CACNA1D	1672	R	Q	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.03e-05	2	not specified	unknown	NA	NA	0	0	VariationID_504808
CACNA1D:1721:A:T	CACNA1D	1721	A	T	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_450779
CACNA1D:1752:T:I	CACNA1D	1752	T	I	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Benign	0.0008405	2	not specified	unknown	NA	NA	0	0	VariationID_226476
CACNA1D:1766:A:P	CACNA1D	1766	A	P	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0002193	2	not specified	unknown	NA	NA	0	0	VariationID_504809
CACNA1D:1771:R:W	CACNA1D	1771	R	W	ENST00000350061;NM_001128840.2	Bipolar disorder	NA	unknown	hgmd	unknown	DM	5.685e-05	1	Bipolar disorder	unknown	NA	NA	0	0	27867939
CACNA1D:1805:R:P	CACNA1D	1805	R	P	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_421886
CACNA1D:1806:Y:C	CACNA1D	1806	Y	C	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.624e-05	2	not specified	unknown	NA	NA	0	0	VariationID_504810
CACNA1D:1938:P:L	CACNA1D	1938	P	L	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Likely benign	4.123e-05	2	not specified	unknown	NA	NA	0	0	VariationID_505106
CACNA1D:2015:S:T	CACNA1D	2015	S	T	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.063e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_228466
CACNA1D:2017:P:L	CACNA1D	2017	P	L	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_228462
CACNA1D:2017:P:L	CACNA1D	2017	P	L	ENST00000350061;NM_001128840.2	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1D:2020:H:Y	CACNA1D	2020	H	Y	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.219e-05	2	not specified	unknown	NA	NA	0	0	VariationID_429281
CACNA1D:2072:G:E	CACNA1D	2072	G	E	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.03e-05	2	not specified	unknown	NA	NA	0	0	VariationID_421619
CACNA1D:2097:D:N	CACNA1D	2097	D	N	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.624e-05	2	not specified	unknown	NA	NA	0	0	VariationID_504751
CACNA1D:2109:G:A	CACNA1D	2109	G	A	ENST00000350061;NM_001128840.2	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_425297
CACNA1D:2112:R:C	CACNA1D	2112	R	C	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.062e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_290392
CACNA1D:2146:R:K	CACNA1D	2146	R	K	ENST00000350061;NM_001128840.2	not specified	NA	unknown	clinvar	unknown	Benign	0.000344	2	not specified	unknown	NA	NA	0	0	VariationID_226479
CACNA1E:128:E:K	CACNA1E	128	E	K	ENST00000367573;NM_001205293.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_422435
CACNA1E:157:R:C	CACNA1E	157	R	C	ENST00000367573;NM_001205293.1	DD_noE	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	2.844e-05	2	DD_noE	unknown	NA	NA	0	0	29942082
CACNA1E:193:R:H	CACNA1E	193	R	H	ENST00000367573;NM_001205293.1	DD_noE	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_noE	maf_pathogenic	NA	NA	0	1	29942082
CACNA1E:221:L:V	CACNA1E	221	L	V	ENST00000367573;NM_001205293.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_452778
CACNA1E:228:L:P	CACNA1E	228	L	P	ENST00000367573;NM_001205293.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_452392
CACNA1E:228:L:P	CACNA1E	228	L	P	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:283:I:N	CACNA1E	283	I	N	ENST00000367573;NM_001205293.1	DD_noE	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_noE	maf_pathogenic	NA	NA	0	1	29942082
CACNA1E:348:G:R	CACNA1E	348	G	R	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and epileptic encephalopathy beginning with West syndrome	NA	NA	NA	1	1	30343943
CACNA1E:352:G:R	CACNA1E	352	G	R	ENST00000367573;NM_001205293.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_265066
CACNA1E:352:G:R	CACNA1E	352	G	R	ENST00000367573;NM_001205293.1	ID_noE	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ID_noE	maf_pathogenic	NA	NA	0	1	29942082
CACNA1E:352:G:R	CACNA1E	352	G	R	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:352:G:R	CACNA1E	352	G	R	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:352:G:R	CACNA1E	352	G	R	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Lennox-Gastaut syndrome	NA	NA	NA	1	1	30343943
CACNA1E:352:G:R	CACNA1E	352	G	R	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:352:G:R	CACNA1E	352	G	R	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:352:G:R	CACNA1E	352	G	R	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:352:G:R	CACNA1E	352	G	R	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:352:G:R	CACNA1E	352	G	R	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:352:G:R	CACNA1E	352	G	R	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	noE	NA	NA	NA	1	1	30343943
CACNA1E:603:I:L	CACNA1E	603	I	L	ENST00000367573;NM_001205293.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_390468
CACNA1E:603:I:L	CACNA1E	603	I	L	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:690:G:D	CACNA1E	690	G	D	ENST00000367573;NM_001205293.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_521400
CACNA1E:690:G:D	CACNA1E	690	G	D	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	noE	NA	NA	NA	1	1	30343943
CACNA1E:698:F:S	CACNA1E	698	F	S	ENST00000367573;NM_001205293.1	Inborn genetic diseases	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	1	VariationID_224995
CACNA1E:698:F:S	CACNA1E	698	F	S	ENST00000367573;NM_001205293.1	epileptic_encephalopathy	NA	unknown	hgmd	unknown	DM	0	1	Epileptic encephalopathy with infantile spasms	maf_pathogenic	NA	NA	0	0	26795593
CACNA1E:698:F:S	CACNA1E	698	F	S	ENST00000367573;NM_001205293.1	EE_E	NA	gof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	1	1	29942082
CACNA1E:698:F:S	CACNA1E	698	F	S	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and epileptic encephalopathy beginning with West syndrome	NA	NA	NA	1	1	30343943
CACNA1E:700:A:T	CACNA1E	700	A	T	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:701:I:V	CACNA1E	701	I	V	ENST00000367573;NM_001205293.1	EE_E	NA	gof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	1	1	29942082
CACNA1E:702:A:P	CACNA1E	702	A	P	ENST00000367573;NM_001205293.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_427007
CACNA1E:702:A:P	CACNA1E	702	A	P	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	unavailable	NA	NA	NA	1	1	30343943
CACNA1E:702:A:T	CACNA1E	702	A	T	ENST00000367573;NM_001205293.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_521483
CACNA1E:702:A:T	CACNA1E	702	A	T	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:702:A:T	CACNA1E	702	A	T	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:702:A:T	CACNA1E	702	A	T	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:702:A:T	CACNA1E	702	A	T	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:702:A:T	CACNA1E	702	A	T	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	West syndrome to Lennox-Gastaut syndrome	NA	NA	NA	1	1	30343943
CACNA1E:702:A:T	CACNA1E	702	A	T	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	West syndrome	NA	NA	NA	1	1	30343943
CACNA1E:702:A:T	CACNA1E	702	A	T	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:702:A:T	CACNA1E	702	A	T	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:702:A:T	CACNA1E	702	A	T	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:851:S:G	CACNA1E	851	S	G	ENST00000367573;NM_001205293.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_522171
CACNA1E:879:R:W	CACNA1E	879	R	W	ENST00000367573;NM_001205293.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	3.182e-05	2	Inborn genetic diseases	unknown	NA	NA	0	0	VariationID_225022
CACNA1E:879:R:W	CACNA1E	879	R	W	ENST00000367573;NM_001205293.1	epileptic_encephalopathy	NA	unknown	hgmd	unknown	DM	3.182e-05	1	Epileptic encephalopathy with infantile spasms	unknown	NA	NA	0	0	26795593
CACNA1E:1164:A:V	CACNA1E	1164	A	V	ENST00000367573;NM_001205293.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.062e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_384367
CACNA1E:1209:G:S	CACNA1E	1209	G	S	ENST00000367573;NM_001205293.1	Autism	NA	unknown	hgmd	unknown	DM	0	1	Autism	maf_pathogenic	NA	NA	0	0	22495309
CACNA1E:1209:G:S	CACNA1E	1209	G	S	ENST00000367573;NM_001205293.1	ASD_noE	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ASD_noE	maf_pathogenic	NA	NA	0	1	29942082
CACNA1E:1416:N:S	CACNA1E	1416	N	S	ENST00000367573;NM_001205293.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_426345
CACNA1E:1422:I:F	CACNA1E	1422	I	F	ENST00000367573;NM_001205293.1	DD_E	NA	gof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	1	1	29942082
CACNA1E:1422:I:F	CACNA1E	1422	I	F	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Early Myoclonic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:1425:T:N	CACNA1E	1425	T	N	ENST00000367573;NM_001205293.1	DEE_milder	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:1425:T:N	CACNA1E	1425	T	N	ENST00000367573;NM_001205293.1	DEE_milder	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	noE	NA	NA	NA	1	1	30343943
CACNA1E:1430:G:R	CACNA1E	1430	G	R	ENST00000367573;NM_001205293.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_521937
CACNA1E:1430:G:R	CACNA1E	1430	G	R	ENST00000367573;NM_001205293.1	DEE_milder	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	noE	NA	NA	NA	1	1	30343943
CACNA1E:1593:I:V	CACNA1E	1593	I	V	ENST00000367573;NM_001205293.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_450052
CACNA1E:1603:S:F	CACNA1E	1603	S	F	ENST00000367573;NM_001205293.1	ID_noE	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ID_noE	maf_pathogenic	NA	NA	0	1	29942082
CACNA1E:1720:A:G	CACNA1E	1720	A	G	ENST00000367573;NM_001205293.1	DEE	NA	gof	HelbigKetal_AJHG18	(Likely)pathogenic	NA	NA	NA	Developmental and Epileptic Encephalopathy	NA	NA	NA	1	1	30343943
CACNA1E:1860:A:T	CACNA1E	1860	A	T	ENST00000367573;NM_001205293.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_391363
CACNA1E:2010:V:M	CACNA1E	2010	V	M	ENST00000367573;NM_001205293.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_521249
CACNA1E:2091:H:R	CACNA1E	2091	H	R	ENST00000367573;NM_001205293.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_452475
CACNA1F:14:P:L	CACNA1F	14	P	L	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Benign	0.01455	3	not specified	unknown	NA	NA	0	0	VariationID_166780
CACNA1F:31:G:R	CACNA1F	31	G	R	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.861e-05	2	not specified	unknown	NA	NA	0	0	VariationID_391811
CACNA1F:70:R:Q	CACNA1F	70	R	Q	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Likely benign	2.812e-05	2	not specified	unknown	NA	NA	0	0	VariationID_191248
CACNA1F:70:R:W	CACNA1F	70	R	W	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary 2	maf_pathogenic	NA	NA	1	1	23714322
CACNA1F:74:C:R	CACNA1F	74	C	R	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	12111638,23714322,22334370
CACNA1F:82:R:Q	CACNA1F	82	R	Q	ENST00000376265;NM_005183.2;NM_005183.3	Congenital stationary night blindness	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Congenital stationary night blindness	maf_pathogenic	NA	NA	1	1	25307992
CACNA1F:88:I:N	CACNA1F	88	I	N	ENST00000376265;NM_005183.2;NM_005183.3	Congenital stationary night blindness	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Congenital stationary night blindness	maf_pathogenic	NA	NA	1	1	25307992
CACNA1F:91:W:L	CACNA1F	91	W	L	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.686e-05	2	not specified	unknown	NA	NA	0	0	VariationID_195238
CACNA1F:95:D:N	CACNA1F	95	D	N	ENST00000376265;NM_005183.2;NM_005183.3	High myopia	NA	unknown	hgmd	unknown	DM	0	1	High myopia	maf_pathogenic	NA	NA	0	0	26747767
CACNA1F:100:L:P	CACNA1F	100	L	P	ENST00000376265;NM_005183.2;NM_005183.3	Congenital stationary night blindness	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Congenital stationary night blindness	maf_pathogenic	NA	NA	1	1	25307992
CACNA1F:100:L:R	CACNA1F	100	L	R	ENST00000376265;NM_005183.2;NM_005183.3	Congenital stationary night blindness	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Congenital stationary night blindness	maf_pathogenic	NA	NA	1	1	25307992,28378818
CACNA1F:150:G:R	CACNA1F	150	G	R	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	12187427
CACNA1F:157:A:P	CACNA1F	157	A	P	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary 2	maf_pathogenic	NA	NA	1	1	23714322
CACNA1F:191:P:A	CACNA1F	191	P	A	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_197774
CACNA1F:216:L:R	CACNA1F	216	L	R	ENST00000376265;NM_005183.2;NM_005183.3	Congenital stationary night blindness	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Congenital stationary night blindness	maf_pathogenic	NA	NA	1	1	25307992
CACNA1F:229:S:P	CACNA1F	229	S	P	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	12111638,15634789
CACNA1F:255:G:E	CACNA1F	255	G	E	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary 2	maf_pathogenic	NA	NA	1	1	24163243
CACNA1F:261:G:R	CACNA1F	261	G	R	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	12111638
CACNA1F:290:R:C	CACNA1F	290	R	C	ENST00000376265;NM_005183.2;NM_005183.3	Cone/cone-rod dystrophy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cone/cone-rod dystrophy	maf_pathogenic	NA	NA	0	1	28341476
CACNA1F:309:G:D	CACNA1F	309	G	D	ENST00000376265;NM_005183.2;NM_005183.3	High myopia	NA	unknown	hgmd	unknown	DM	0	1	High myopia	maf_pathogenic	NA	NA	0	0	26747767
CACNA1F:348:P:S	CACNA1F	348	P	S	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_426776
CACNA1F:359:G:R	CACNA1F	359	G	R	ENST00000376265;NM_005183.2;NM_005183.3	Nightblindness-associated transient tonic downgaze	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Nightblindness-associated transient tonic downgaze	maf_pathogenic	NA	NA	0	1	20001510,23714322
CACNA1F:369:G:D	CACNA1F	369	G	D	ENST00000376265;NM_005183.2;NM_005183.3	Congenital stationary night blindness, type 2A	NA	unknown	clinvar	unknown	Pathogenic	0	1	Congenital stationary night blindness, type 2A	maf_pathogenic	NA	NA	0	0	VariationID_11614
CACNA1F:369:G:D	CACNA1F	369	G	D	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	9662399,15634789,14973233
CACNA1F:434:A:V	CACNA1F	434	A	V	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	28002560
CACNA1F:488:E:D	CACNA1F	488	E	D	ENST00000376265;NM_005183.2;NM_005183.3	Retinal dystrophy	NA	unknown	hgmd	unknown	DM	1.454e-05	2	Retinal dystrophy	unknown	NA	NA	0	0	25356976
CACNA1F:519:R:Q	CACNA1F	519	R	Q	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Likely benign	0.01757	2	not specified	unknown	NA	NA	0	0	VariationID_402468
CACNA1F:519:R:Q	CACNA1F	519	R	Q	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	unknown	DM	0.01757	1	Night blindness%2C congenital stationary%2C incomplete	unknown	NA	NA	0	0	9662399,27884173,22995991,16476079
CACNA1F:519:R:W	CACNA1F	519	R	W	ENST00000376265;NM_005183.2;NM_005183.3	Retinitis pigmentosa	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Retinitis pigmentosa	maf_pathogenic	NA	NA	0	1	26075273,26436388
CACNA1F:523:R:H	CACNA1F	523	R	H	ENST00000376265;NM_005183.2;NM_005183.3	Abnormality of neuronal migration	NA	unknown	clinvar	unknown	Benign	0.0006686	1	Abnormality of neuronal migration	unknown	NA	NA	0	0	VariationID_208890
CACNA1F:547:A:T	CACNA1F	547	A	T	ENST00000376265;NM_005183.2;NM_005183.3	Inborn genetic diseases	NA	unknown	clinvar	unknown	Likely pathogenic	1.789e-05	2	Inborn genetic diseases	unknown	NA	NA	0	0	VariationID_520685
CACNA1F:603:G:R	CACNA1F	603	G	R	ENST00000376265;NM_005183.2;NM_005183.3	Aland island eye disease & stationary night blindness	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Aland island eye disease & stationary night blindness	maf_pathogenic	NA	NA	0	1	22194652
CACNA1F:635:V:I	CACNA1F	635	V	I	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.002116	0	not specified	unknown	NA	NA	0	0	VariationID_259657
CACNA1F:635:V:I	CACNA1F	635	V	I	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	unknown	DM	0.002116	1	Night blindness%2C congenital stationary%2C incomplete	unknown	NA	NA	0	0	12187427,27884173,26355662
CACNA1F:638:H:Y	CACNA1F	638	H	Y	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.338e-05	2	not specified	unknown	NA	NA	0	0	VariationID_423582
CACNA1F:656:I:F	CACNA1F	656	I	F	ENST00000376265;NM_005183.2;NM_005183.3	Cone-rod dystrophy X-linked 3;Congenital stationary night blindness, type 2A	NA	unknown	clinvar	unknown	Uncertain significance	0	1	Cone-rod dystrophy X-linked 3;Congenital stationary night blindness, type 2A	maf_pathogenic	NA	NA	0	0	VariationID_430654
CACNA1F:674:G:D	CACNA1F	674	G	D	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	11281458,14973233
CACNA1F:708:L:P	CACNA1F	708	L	P	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary 2	maf_pathogenic	NA	NA	1	1	24163243
CACNA1F:746:N:T	CACNA1F	746	N	T	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Likely benign	0.001522	2	not specified	unknown	NA	NA	0	0	VariationID_283388
CACNA1F:746:N:T	CACNA1F	746	N	T	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary 2	NA	lof	hgmd	unknown	DM	0.001522	2	Night blindness%2C congenital stationary 2	unknown	NA	NA	0	0	25472526
CACNA1F:753:F:C	CACNA1F	753	F	C	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	12111638,17949918
CACNA1F:756:I:T	CACNA1F	756	I	T	ENST00000376265;NM_005183.2;NM_005183.3	Congenital stationary night blindness, type 2A, severe	NA	unknown	clinvar	unknown	Pathogenic	0	1	Congenital stationary night blindness, type 2A, severe	maf_pathogenic	NA	NA	0	0	VariationID_11619
CACNA1F:756:I:T	CACNA1F	756	I	T	ENST00000376265;NM_005183.2;NM_005183.3	Retinal disorder%2C X-linked	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Retinal disorder%2C X-linked	maf_pathogenic	NA	NA	0	1	15807819,15897456
CACNA1F:797:E:V	CACNA1F	797	E	V	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	28002560
CACNA1F:826:G:V	CACNA1F	826	G	V	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.09e-05	2	not specified	unknown	NA	NA	0	0	VariationID_381793
CACNA1F:848:G:S	CACNA1F	848	G	S	ENST00000376265;NM_005183.2;NM_005183.3	Cone-rod dystrophy X-linked 3	NA	unknown	clinvar	unknown	Pathogenic	0	1	Cone-rod dystrophy X-linked 3	maf_pathogenic	NA	NA	0	0	VariationID_217443
CACNA1F:848:G:S	CACNA1F	848	G	S	ENST00000376265;NM_005183.2;NM_005183.3	Cone-rod dystrophy	NA	unknown	hgmd	unknown	DM	0	1	Cone-rod dystrophy	maf_pathogenic	NA	NA	0	0	23776498
CACNA1F:860:L:P	CACNA1F	860	L	P	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	12111638,24796500
CACNA1F:900:R:H	CACNA1F	900	R	H	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.92e-05	2	not specified	unknown	NA	NA	0	0	VariationID_390619
CACNA1F:927:G:A	CACNA1F	927	G	A	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary 2	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary 2	maf_pathogenic	NA	NA	1	1	23714322
CACNA1F:928:A:D	CACNA1F	928	A	D	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	11281458,14973233
CACNA1F:933:G:S	CACNA1F	933	G	S	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.000162	2	not specified	unknown	NA	NA	0	0	VariationID_287334
CACNA1F:937:R:C	CACNA1F	937	R	C	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_287248
CACNA1F:938:S:G	CACNA1F	938	S	G	ENST00000376265;NM_005183.2;NM_005183.3	Congenital stationary night blindness	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Congenital stationary night blindness	maf_pathogenic	NA	NA	1	1	25307992
CACNA1F:941:N:T	CACNA1F	941	N	T	ENST00000376265;NM_005183.2;NM_005183.3	Congenital stationary night blindness	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Congenital stationary night blindness	maf_pathogenic	NA	NA	1	1	25307992
CACNA1F:944:D:Y	CACNA1F	944	D	Y	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	19578023
CACNA1F:975:R:G	CACNA1F	975	R	G	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	28002560
CACNA1F:1015:A:T	CACNA1F	1015	A	T	ENST00000376265;NM_005183.2;NM_005183.3	Cone-rod dystrophy	NA	unknown	hgmd	(Likely)pathogenic	DM	5.598e-06	2	Cone-rod dystrophy	maf_pathogenic	NA	NA	0	1	26992781
CACNA1F:1018:G:E	CACNA1F	1018	G	E	ENST00000376265;NM_005183.2;NM_005183.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_420802
CACNA1F:1018:G:R	CACNA1F	1018	G	R	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	12111638,23714322,17949918
CACNA1F:1032:E:K	CACNA1F	1032	E	K	ENST00000376265;NM_005183.2;NM_005183.3	Retinitis pigmentosa	NA	unknown	hgmd	unknown	DM	4.475e-05	1	Retinitis pigmentosa	unknown	NA	NA	0	0	28512305
CACNA1F:1040:C:R	CACNA1F	1040	C	R	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Likely benign	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_191247
CACNA1F:1060:R:W	CACNA1F	1060	R	W	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	9662399,28373534,17949918
CACNA1F:1071:N:K	CACNA1F	1071	N	K	ENST00000376265;NM_005183.2;NM_005183.3	Congenital stationary night blindness	NA	lof	clinvar	unknown	Likely pathogenic	0	1	Congenital stationary night blindness	maf_pathogenic	NA	NA	0	0	VariationID_438123
CACNA1F:1071:N:K	CACNA1F	1071	N	K	ENST00000376265;NM_005183.2;NM_005183.3	Congenital stationary night blindness	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Congenital stationary night blindness	maf_pathogenic	NA	NA	1	1	28041643
CACNA1F:1079:L:P	CACNA1F	1079	L	P	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	12111638,15634789
CACNA1F:1097:D:N	CACNA1F	1097	D	N	ENST00000376265;NM_005183.2;NM_005183.3	Congenital stationary night blindness	NA	lof	hgmd	unknown	DM	4.724e-05	2	Congenital stationary night blindness	unknown	NA	NA	0	0	28341476
CACNA1F:1099:Y:C	CACNA1F	1099	Y	C	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_290892
CACNA1F:1145:E:K	CACNA1F	1145	E	K	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	unknown	DM	5.625e-05	2	Night blindness%2C congenital stationary%2C incomplete	unknown	NA	NA	0	0	19578023
CACNA1F:1164:A:D	CACNA1F	1164	A	D	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	25307992
CACNA1F:1222:M:I	CACNA1F	1222	M	I	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	unknown	DM	7.288e-05	2	Night blindness%2C congenital stationary%2C incomplete	unknown	NA	NA	0	0	28002560
CACNA1F:1232:L:R	CACNA1F	1232	L	R	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	25307992
CACNA1F:1265:S:I	CACNA1F	1265	S	I	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	15761389
CACNA1F:1296:R:C	CACNA1F	1296	R	C	ENST00000376265;NM_005183.2;NM_005183.3	Retinal dystrophy	NA	unknown	clinvar	unknown	Likely pathogenic	0	1	Retinal dystrophy	maf_pathogenic	NA	NA	0	0	VariationID_438126
CACNA1F:1296:R:C	CACNA1F	1296	R	C	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	25307992,28041643
CACNA1F:1296:R:S	CACNA1F	1296	R	S	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	15761389,25525159
CACNA1F:1299:R:L	CACNA1F	1299	R	L	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	28002560
CACNA1F:1350:G:V	CACNA1F	1350	G	V	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	25307992
CACNA1F:1375:L:H	CACNA1F	1375	L	H	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	9662399,16476079
CACNA1F:1387:E:D	CACNA1F	1387	E	D	ENST00000376265;NM_005183.2;NM_005183.3	not provided	NA	unknown	clinvar	unknown	not provided	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_100575
CACNA1F:1387:E:D	CACNA1F	1387	E	D	ENST00000376265;NM_005183.2;NM_005183.3	Usher syndrome	NA	unknown	hgmd	unknown	DM	0	1	Usher syndrome	maf_pathogenic	NA	NA	0	0	22025579
CACNA1F:1405:G:S	CACNA1F	1405	G	S	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Benign	0.0003861	2	not specified	unknown	NA	NA	0	0	VariationID_287841
CACNA1F:1420:Y:C	CACNA1F	1420	Y	C	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	25307992
CACNA1F:1434:N:S	CACNA1F	1434	N	S	ENST00000376265;NM_005183.2;NM_005183.3	Cone/cone-rod dystrophy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cone/cone-rod dystrophy	maf_pathogenic	NA	NA	0	1	28341476
CACNA1F:1466:W:L	CACNA1F	1466	W	L	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	25307992
CACNA1F:1466:W:R	CACNA1F	1466	W	R	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	28002560
CACNA1F:1486:L:P	CACNA1F	1486	L	P	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	19578023
CACNA1F:1491:P:L	CACNA1F	1491	P	L	ENST00000376265;NM_005183.2;NM_005183.3	Congenital stationary night blindness	NA	lof	clinvar	unknown	Likely pathogenic	0	1	Congenital stationary night blindness	maf_pathogenic	NA	NA	0	0	VariationID_438127
CACNA1F:1491:P:L	CACNA1F	1491	P	L	ENST00000376265;NM_005183.2;NM_005183.3	Congenital stationary night blindness	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Congenital stationary night blindness	maf_pathogenic	NA	NA	1	1	28041643
CACNA1F:1492:P:A	CACNA1F	1492	P	A	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	19578023
CACNA1F:1494:G:R	CACNA1F	1494	G	R	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	25307992
CACNA1F:1496:G:E	CACNA1F	1496	G	E	ENST00000376265;NM_005183.2;NM_005183.3	Retinal degeneration%2C early-onset	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Retinal degeneration%2C early-onset	maf_pathogenic	NA	NA	0	1	29062221
CACNA1F:1499:C:R	CACNA1F	1499	C	R	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	12111638
CACNA1F:1500:P:R	CACNA1F	1500	P	R	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	12111638
CACNA1F:1508:L:P	CACNA1F	1508	L	P	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	12111638
CACNA1F:1527:L:F	CACNA1F	1527	L	F	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	28002560
CACNA1F:1532:R:W	CACNA1F	1532	R	W	ENST00000376265;NM_005183.2;NM_005183.3	Night blindness%2C congenital stationary%2C incomplete	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Night blindness%2C congenital stationary%2C incomplete	maf_pathogenic	NA	NA	1	1	28002560
CACNA1F:1572:P:Q	CACNA1F	1572	P	Q	ENST00000376265;NM_005183.2;NM_005183.3	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_493521
CACNA1F:1625:Q:R	CACNA1F	1625	Q	R	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.876e-05	2	not specified	unknown	NA	NA	0	0	VariationID_426853
CACNA1F:1684:G:W	CACNA1F	1684	G	W	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Benign	0.0008694	2	not specified	unknown	NA	NA	0	0	VariationID_166776
CACNA1F:1762:Q:H	CACNA1F	1762	Q	H	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.171e-05	2	not specified	unknown	NA	NA	0	0	VariationID_166775
CACNA1F:1930:R:H	CACNA1F	1930	R	H	ENST00000376265;NM_005183.2;NM_005183.3	not provided;not specified	NA	unknown	clinvar	unknown	Benign	0.0985	2	not provided;not specified	unknown	NA	NA	0	0	VariationID_100576
CACNA1F:1954:D:N	CACNA1F	1954	D	N	ENST00000376265;NM_005183.2;NM_005183.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0003267	2	not specified	unknown	NA	NA	0	0	VariationID_197594
CACNA1G:26:S:W	CACNA1G	26	S	W	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.548e-05	2	not specified	unknown	NA	NA	0	0	VariationID_387126
CACNA1G:88:M:V	CACNA1G	88	M	V	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.128e-06	2	not specified	unknown	NA	NA	0	0	VariationID_384332
CACNA1G:102:R:Q	CACNA1G	102	R	Q	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.628e-05	2	not specified	unknown	NA	NA	0	0	VariationID_391562
CACNA1G:208:L:P	CACNA1G	208	L	P	ENST00000359106;NM_018896.4	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	unknown	NA	NA	0	0	VariationID_452482
CACNA1G:299:G:S	CACNA1G	299	G	S	ENST00000359106;NM_018896.4	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.00178	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1G:410:R:Q	CACNA1G	410	R	Q	ENST00000359106;NM_018896.4	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.131e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1G:490:S:P	CACNA1G	490	S	P	ENST00000359106;NM_018896.4	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1G:519:P:L	CACNA1G	519	P	L	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.699e-05	2	not specified	unknown	NA	NA	0	0	VariationID_380489
CACNA1G:570:A:V	CACNA1G	570	A	V	ENST00000359106;NM_018896.4	Myoclonic epilepsy%2C juvenile	NA	unknown	hgmd	unknown	DM	4.697e-06	2	Myoclonic epilepsy%2C juvenile	unknown	NA	NA	0	0	17397049
CACNA1G:581:G:S	CACNA1G	581	G	S	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.869e-05	2	not specified	unknown	NA	NA	0	0	VariationID_383945
CACNA1G:591:P:S	CACNA1G	591	P	S	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	5.027e-05	2	not specified	unknown	NA	NA	0	0	VariationID_388475
CACNA1G:630:S:R	CACNA1G	630	S	R	ENST00000359106;NM_018896.4	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	unknown	NA	NA	0	0	VariationID_422268
CACNA1G:710:S:C	CACNA1G	710	S	C	ENST00000359106;NM_018896.4	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	2.848e-05	2	Inborn genetic diseases	unknown	NA	NA	0	0	VariationID_208689
CACNA1G:853:R:Q	CACNA1G	853	R	Q	ENST00000359106;NM_018896.4	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	4.147e-06	2	not provided	unknown	NA	NA	0	0	VariationID_430371
CACNA1G:859:M:R	CACNA1G	859	M	R	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_382324
CACNA1G:867:T:P	CACNA1G	867	T	P	ENST00000359106;NM_018896.4	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	unknown	NA	NA	0	0	VariationID_265067
CACNA1G:961:A:T	CACNA1G	961	A	T	ENST00000359106;NM_018896.4	Inborn genetic diseases;not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Inborn genetic diseases;not provided	unknown	NA	NA	0	0	VariationID_280269
CACNA1G:961:A:T	CACNA1G	961	A	T	ENST00000359106;NM_018896.4	DD_noE	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	0	2	DD_noE	unknown	NA	NA	0	0	29942082
CACNA1G:989:V:I	CACNA1G	989	V	I	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_423955
CACNA1G:1018:K:T	CACNA1G	1018	K	T	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_389457
CACNA1G:1089:A:S	CACNA1G	1089	A	S	ENST00000359106;NM_018896.4	Myoclonic epilepsy%2C juvenile	NA	unknown	hgmd	unknown	DM	0	2	Myoclonic epilepsy%2C juvenile	unknown	NA	NA	0	0	17397049
CACNA1G:1105:S:R	CACNA1G	1105	S	R	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_451830
CACNA1G:1185:R:C	CACNA1G	1185	R	C	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.143e-05	2	not specified	unknown	NA	NA	0	0	VariationID_387354
CACNA1G:1238:A:V	CACNA1G	1238	A	V	ENST00000359106;NM_018896.4	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	3.657e-05	2	Inborn genetic diseases	unknown	NA	NA	0	0	VariationID_521016
CACNA1G:1381:R:Q	CACNA1G	1381	R	Q	ENST00000359106;NM_018896.4	ASD_noE	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	0	2	ASD_noE	unknown	NA	NA	0	0	29942082
CACNA1G:1593:Y:C	CACNA1G	1593	Y	C	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.101e-06	2	not specified	unknown	NA	NA	0	0	VariationID_382272
CACNA1G:1612:Y:H	CACNA1G	1612	Y	H	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_387680
CACNA1G:1633:Y:C	CACNA1G	1633	Y	C	ENST00000359106;NM_018896.4	Abnormality of the nervous system	NA	unknown	hgmd	unknown	DM	0	2	Abnormality of the nervous system	unknown	NA	NA	0	0	26633542
CACNA1G:1715:R:H	CACNA1G	1715	R	H	ENST00000359106;NM_018896.4	CACNA1G-related disorders;Spinocerebellar ataxia 42	NA	unknown	clinvar	unknown	Pathogenic	0	2	CACNA1G-related disorders;Spinocerebellar ataxia 42	unknown	NA	NA	0	0	VariationID_221981
CACNA1G:1715:R:H	CACNA1G	1715	R	H	ENST00000359106;NM_018896.4	Cerebellar ataxia%2C autosomal dominant	NA	unknown	hgmd	unknown	DM	0	2	Cerebellar ataxia%2C autosomal dominant	unknown	NA	NA	0	0	26456284,28490766,26715324,26715324
CACNA1G:1891:L:I	CACNA1G	1891	L	I	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_423841
CACNA1G:1992:S:C	CACNA1G	1992	S	C	ENST00000359106;NM_018896.4	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1G:2113:T:N	CACNA1G	2113	T	N	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_424278
CACNA1G:2114:I:F	CACNA1G	2114	I	F	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_387679
CACNA1G:2237:P:H	CACNA1G	2237	P	H	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0005219	2	not specified	unknown	NA	NA	0	0	VariationID_279724
CACNA1G:2301:R:Q	CACNA1G	2301	R	Q	ENST00000359106;NM_018896.4	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.06e-05	2	not specified	unknown	NA	NA	0	0	VariationID_382858
CACNA1G:2317:E:K	CACNA1G	2317	E	K	ENST00000359106;NM_018896.4	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	1.824e-05	2	not provided	unknown	NA	NA	0	0	VariationID_426883
CACNA1G:2356:P:S	CACNA1G	2356	P	S	ENST00000359106;NM_018896.4	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0.0003094	1	not provided	unknown	NA	NA	0	0	VariationID_374702
CACNA1H:32:S:I	CACNA1H	32	S	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:44:S:F	CACNA1H	44	S	F	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:50:P:L	CACNA1H	50	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.302e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:53:S:I	CACNA1H	53	S	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:76:A:T	CACNA1H	76	A	T	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_452516
CACNA1H:84:G:C	CACNA1H	84	G	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:88:R:W	CACNA1H	88	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:105:V:G	CACNA1H	105	V	G	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001671	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:108:L:V	CACNA1H	108	L	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.444e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:128:C:G	CACNA1H	128	C	G	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_388471
CACNA1H:129:G:S	CACNA1H	129	G	S	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.0002487	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460098
CACNA1H:141:A:T	CACNA1H	141	A	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002039	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:141:A:V	CACNA1H	141	A	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:145:A:T	CACNA1H	145	A	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	7.199e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:153:I:V	CACNA1H	153	I	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.99e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:155:M:L	CACNA1H	155	M	L	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460121
CACNA1H:161:F:L	CACNA1H	161	F	L	ENST00000348261;NM_021098.2	Epilepsy, childhood absence 6	NA	unknown	clinvar	unknown	risk factor	0	1	Epilepsy, childhood absence 6	unknown	NA	NA	0	0	VariationID_2701
CACNA1H:161:F:L	CACNA1H	161	F	L	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	0	2	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	12891677,14729682
CACNA1H:163:Q:H	CACNA1H	163	Q	H	ENST00000348261;NM_021098.2	Epilepsy, childhood absence 6;Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0.004937	2	Epilepsy, childhood absence 6;Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460131
CACNA1H:163:Q:H	CACNA1H	163	Q	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.004937	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:179:V:I	CACNA1H	179	V	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.795e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:193:V:L	CACNA1H	193	V	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.22e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:193:V:M	CACNA1H	193	V	M	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.441e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:196:S:L	CACNA1H	196	S	L	ENST00000348261;NM_021098.2	Hyperaldosteronism%2C type II	NA	unknown	hgmd	unknown	DM	0	2	Hyperaldosteronism%2C type II	unknown	NA	NA	0	0	27729216,27729216
CACNA1H:201:V:M	CACNA1H	201	V	M	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.221e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:207:L:V	CACNA1H	207	L	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:209:A:T	CACNA1H	209	A	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.63e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:233:V:L	CACNA1H	233	V	L	ENST00000348261;NM_021098.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	unknown	NA	NA	0	0	VariationID_453072
CACNA1H:238:F:C	CACNA1H	238	F	C	ENST00000348261;NM_021098.2	DD_noE	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	0.0003333	2	DD_noE	unknown	NA	NA	0	0	29942082
CACNA1H:238:F:C	CACNA1H	238	F	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003333	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:245:G:S	CACNA1H	245	G	S	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	1.22e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460186
CACNA1H:264:S:G	CACNA1H	264	S	G	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	4.117e-06	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460187
CACNA1H:270:N:T	CACNA1H	270	N	T	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.0003598	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460189
CACNA1H:273:T:S	CACNA1H	273	T	S	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.0001828	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460190
CACNA1H:273:T:S	CACNA1H	273	T	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001828	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:276:R:Q	CACNA1H	276	R	Q	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0.0006919	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460192
CACNA1H:276:R:Q	CACNA1H	276	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0006919	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:277:P:L	CACNA1H	277	P	L	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.449e-05	2	not specified	unknown	NA	NA	0	0	VariationID_279725
CACNA1H:277:P:S	CACNA1H	277	P	S	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001122	2	not specified	unknown	NA	NA	0	0	VariationID_382211
CACNA1H:277:P:S	CACNA1H	277	P	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001122	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:282:E:K	CACNA1H	282	E	K	ENST00000348261;NM_021098.2	Epilepsy, childhood absence 6	NA	unknown	clinvar	unknown	risk factor	1.716e-05	1	Epilepsy, childhood absence 6	unknown	NA	NA	0	0	VariationID_2702
CACNA1H:282:E:K	CACNA1H	282	E	K	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	1.716e-05	2	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	12891677,14729682
CACNA1H:295:R:G	CACNA1H	295	R	G	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:303:S:L	CACNA1H	303	S	L	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.585e-06	2	not specified	unknown	NA	NA	0	0	VariationID_383550
CACNA1H:308:R:C	CACNA1H	308	R	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.797e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:309:R:H	CACNA1H	309	R	H	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	4.884e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460194
CACNA1H:313:M:T	CACNA1H	313	M	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:313:M:V	CACNA1H	313	M	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.133	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:314:P:L	CACNA1H	314	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:314:P:R	CACNA1H	314	P	R	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.568e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:314:P:S	CACNA1H	314	P	S	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	5.151e-05	2	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	17156077,20981092
CACNA1H:318:G:S	CACNA1H	318	G	S	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_497766
CACNA1H:332:A:T	CACNA1H	332	A	T	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0.01678	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460196
CACNA1H:332:A:T	CACNA1H	332	A	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.01678	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:348:R:H	CACNA1H	348	R	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.635e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:394:Y:C	CACNA1H	394	Y	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:395:N:D	CACNA1H	395	N	D	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:397:I:V	CACNA1H	397	I	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0006401	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:409:F:Y	CACNA1H	409	F	Y	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:412:N:S	CACNA1H	412	N	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:414:C:Y	CACNA1H	414	C	Y	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_385773
CACNA1H:424:E:D	CACNA1H	424	E	D	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:428:R:W	CACNA1H	428	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.151e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:434:R:W	CACNA1H	434	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.473e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:437:R:Q	CACNA1H	437	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003888	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:439:R:C	CACNA1H	439	R	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.021e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:440:H:Y	CACNA1H	440	H	Y	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.638e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:443:N:S	CACNA1H	443	N	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:456:C:S	CACNA1H	456	C	S	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	0	2	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	12891677,24277868,14729682
CACNA1H:464:V:M	CACNA1H	464	V	M	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.674e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:473:R:L	CACNA1H	473	R	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:477:R:C	CACNA1H	477	R	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.000193	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:477:R:H	CACNA1H	477	R	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:479:Y:C	CACNA1H	479	Y	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002288	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:480:A:T	CACNA1H	480	A	T	ENST00000348261;NM_021098.2	Idiopathic epilepsy%2C generalised	NA	unknown	hgmd	unknown	DM	0	2	Idiopathic epilepsy%2C generalised	unknown	NA	NA	0	0	15048902,15852375
CACNA1H:481:R:H	CACNA1H	481	R	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:485:R:C	CACNA1H	485	R	C	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	8.246e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460045
CACNA1H:492:P:S	CACNA1H	492	P	S	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	0	2	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	17156077
CACNA1H:499:G:S	CACNA1H	499	G	S	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	0.001803	2	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	12891677
CACNA1H:499:G:S	CACNA1H	499	G	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001803	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:501:G:E	CACNA1H	501	G	E	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.0001806	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460047
CACNA1H:503:R:H	CACNA1H	503	R	H	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	8.752e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460048
CACNA1H:503:R:H	CACNA1H	503	R	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.752e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:505:R:C	CACNA1H	505	R	C	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0.001445	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460049
CACNA1H:506:R:Q	CACNA1H	506	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001993	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:506:R:W	CACNA1H	506	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.473e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:515:H:Y	CACNA1H	515	H	Y	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	0.00039	2	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	15833171
CACNA1H:516:H:Y	CACNA1H	516	H	Y	ENST00000348261;NM_021098.2	Focal epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	7.663e-06	2	Focal epilepsy	unknown	NA	NA	0	0	VariationID_375538
CACNA1H:542:E:K	CACNA1H	542	E	K	ENST00000348261;NM_021098.2	Ductal breast carcinoma	NA	unknown	clinvar	unknown	Uncertain significance	1.545e-05	1	Ductal breast carcinoma	unknown	NA	NA	0	0	VariationID_221328
CACNA1H:552:R:Q	CACNA1H	552	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.257e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:555:A:V	CACNA1H	555	A	V	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified	NA	unknown	clinvar	unknown	Benign	0.01099	3	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified	unknown	NA	NA	0	0	VariationID_96001
CACNA1H:555:A:V	CACNA1H	555	A	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.01099	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:557:P:S	CACNA1H	557	P	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:558:S:L	CACNA1H	558	S	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.422e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:562:P:A	CACNA1H	562	P	A	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:565:G:R	CACNA1H	565	G	R	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.598e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:568:D:N	CACNA1H	568	D	N	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0.001942	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460050
CACNA1H:568:D:N	CACNA1H	568	D	N	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001942	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:574:S:N	CACNA1H	574	S	N	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:579:D:N	CACNA1H	579	D	N	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0.0004034	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460051
CACNA1H:585:P:S	CACNA1H	585	P	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001597	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:587:E:Q	CACNA1H	587	E	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.923e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:590:R:W	CACNA1H	590	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.546e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:598:A:V	CACNA1H	598	A	V	ENST00000348261;NM_021098.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	unknown	NA	NA	0	0	VariationID_372862
CACNA1H:610:T:A	CACNA1H	610	T	A	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.0001292	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460053
CACNA1H:612:N:T	CACNA1H	612	N	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.578e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:615:T:M	CACNA1H	615	T	M	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0003985	0	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified	unknown	NA	NA	0	0	VariationID_96004
CACNA1H:615:T:M	CACNA1H	615	T	M	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003985	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:618:P:L	CACNA1H	618	P	L	ENST00000348261;NM_021098.2	Epilepsy, idiopathic generalized 6;Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity, risk factor	0.0005342	0	Epilepsy, idiopathic generalized 6;Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified	unknown	NA	NA	0	0	VariationID_2705
CACNA1H:618:P:L	CACNA1H	618	P	L	ENST00000348261;NM_021098.2	Idiopathic epilepsy%2C generalised	NA	unknown	hgmd	unknown	DM	0.0005342	2	Idiopathic epilepsy%2C generalised	unknown	NA	NA	0	0	15048902,15852375
CACNA1H:618:P:L	CACNA1H	618	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0005342	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:631:G:R	CACNA1H	631	G	R	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	0.0001242	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460056
CACNA1H:631:G:R	CACNA1H	631	G	R	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001242	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:632:P:H	CACNA1H	632	P	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.945e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:638:G:S	CACNA1H	638	G	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.555e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:639:G:R	CACNA1H	639	G	R	ENST00000348261;NM_021098.2	Epilepsy, childhood absence 6	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Epilepsy, childhood absence 6	unknown	NA	NA	0	0	VariationID_446429
CACNA1H:640:P:L	CACNA1H	640	P	L	ENST00000348261;NM_021098.2	Epilepsy, childhood absence 6;not specified	NA	unknown	clinvar	unknown	Benign	0.386	2	Epilepsy, childhood absence 6;not specified	unknown	NA	NA	0	0	VariationID_96005
CACNA1H:647:G:S	CACNA1H	647	G	S	ENST00000348261;NM_021098.2	not provided	NA	unknown	clinvar	unknown	Uncertain significance	7.906e-05	1	not provided	unknown	NA	NA	0	0	VariationID_425082
CACNA1H:647:G:S	CACNA1H	647	G	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	7.906e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:648:P:L	CACNA1H	648	P	L	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	0	2	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	12891677
CACNA1H:656:P:S	CACNA1H	656	P	S	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0.001817	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460057
CACNA1H:656:P:S	CACNA1H	656	P	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001817	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:657:Y:H	CACNA1H	657	Y	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:662:H:R	CACNA1H	662	H	R	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.48e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:664:V:A	CACNA1H	664	V	A	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Benign	0.1924	2	not specified	unknown	NA	NA	0	0	VariationID_96006
CACNA1H:672:A:V	CACNA1H	672	A	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.211e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:673:P:S	CACNA1H	673	P	S	ENST00000348261;NM_021098.2	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not provided	unknown	NA	NA	0	0	VariationID_377142
CACNA1H:676:L:M	CACNA1H	676	L	M	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.334e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:677:S:L	CACNA1H	677	S	L	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0.001143	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460058
CACNA1H:680:S:N	CACNA1H	680	S	N	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001333	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:684:P:H	CACNA1H	684	P	H	ENST00000348261;NM_021098.2	Abnormality of brain morphology	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	Abnormality of brain morphology	unknown	NA	NA	0	0	VariationID_402204
CACNA1H:684:P:H	CACNA1H	684	P	H	ENST00000348261;NM_021098.2	Intellectual disability%2C microcephaly and cortical atrophy	NA	unknown	hgmd	unknown	DM	0	2	Intellectual disability%2C microcephaly and cortical atrophy	unknown	NA	NA	0	0	26539891
CACNA1H:686:P:L	CACNA1H	686	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001012	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:690:A:V	CACNA1H	690	A	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002417	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:691:G:S	CACNA1H	691	G	S	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.17e-05	2	not specified	unknown	NA	NA	0	0	VariationID_383791
CACNA1H:701:P:L	CACNA1H	701	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.484e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:705:R:C	CACNA1H	705	R	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.939e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:710:P:L	CACNA1H	710	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.463e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:711:E:D	CACNA1H	711	E	D	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:716:G:C	CACNA1H	716	G	C	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_386311
CACNA1H:716:G:S	CACNA1H	716	G	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.641e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:718:E:A	CACNA1H	718	E	A	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0009848	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:718:E:G	CACNA1H	718	E	G	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.0001525	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460060
CACNA1H:726:G:V	CACNA1H	726	G	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:727:V:I	CACNA1H	727	V	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.29e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:728:Y:C	CACNA1H	728	Y	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.879e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:739:R:C	CACNA1H	739	R	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.663e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:739:R:H	CACNA1H	739	R	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002622	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:741:D:G	CACNA1H	741	D	G	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.677e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:744:R:Q	CACNA1H	744	R	Q	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	2.526e-05	2	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	12891677
CACNA1H:747:R:C	CACNA1H	747	R	C	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	3.396e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460061
CACNA1H:748:A:V	CACNA1H	748	A	V	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	5.96e-05	2	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	12891677
CACNA1H:752:P:L	CACNA1H	752	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.037e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:755:G:D	CACNA1H	755	G	D	ENST00000348261;NM_021098.2	Idiopathic epilepsy%2C generalised	NA	unknown	hgmd	unknown	DM	0.0002284	2	Idiopathic epilepsy%2C generalised	unknown	NA	NA	0	0	15048902,15852375
CACNA1H:755:G:D	CACNA1H	755	G	D	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002284	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:761:R:W	CACNA1H	761	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.265e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:766:R:W	CACNA1H	766	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.741e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:769:P:L	CACNA1H	769	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.949e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:773:G:D	CACNA1H	773	G	D	ENST00000348261;NM_021098.2	Epilepsy, childhood absence 6	NA	unknown	clinvar	unknown	no interpretation for the single variant	0.0002342	1	Epilepsy, childhood absence 6	unknown	NA	NA	0	0	VariationID_242815
CACNA1H:773:G:D	CACNA1H	773	G	D	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	0.0002342	2	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	12891677,16883519
CACNA1H:777:R:C	CACNA1H	777	R	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001322	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:780:V:F	CACNA1H	780	V	F	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.0003499	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460062
CACNA1H:780:V:F	CACNA1H	780	V	F	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003499	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:780:V:I	CACNA1H	780	V	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:782:F:L	CACNA1H	782	F	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.134e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:784:G:S	CACNA1H	784	G	S	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	3.252e-05	2	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	12891677
CACNA1H:785:K:M	CACNA1H	785	K	M	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0.003581	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460063
CACNA1H:785:K:M	CACNA1H	785	K	M	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.003581	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:788:R:C	CACNA1H	788	R	C	ENST00000348261;NM_021098.2	Epilepsy, childhood absence 6;not specified	NA	unknown	clinvar	unknown	Benign	0.08177	1	Epilepsy, childhood absence 6;not specified	unknown	NA	NA	0	0	VariationID_96008
CACNA1H:788:R:C	CACNA1H	788	R	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.08177	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:788:R:H	CACNA1H	788	R	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.824e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:790:V:M	CACNA1H	790	V	M	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001984	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:799:I:V	CACNA1H	799	I	V	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_446948
CACNA1H:800:M:T	CACNA1H	800	M	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.012e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:803:I:V	CACNA1H	803	I	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.025e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:819:E:K	CACNA1H	819	E	K	ENST00000348261;NM_021098.2	not provided	NA	unknown	clinvar	unknown	Uncertain significance	1.642e-05	2	not provided	unknown	NA	NA	0	0	VariationID_377295
CACNA1H:819:E:K	CACNA1H	819	E	K	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.642e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:821:L:V	CACNA1H	821	L	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.681e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:822:T:S	CACNA1H	822	T	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.041e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:831:V:M	CACNA1H	831	V	M	ENST00000348261;NM_021098.2	Epilepsy, childhood absence 6	NA	unknown	clinvar	unknown	risk factor	1.221e-05	1	Epilepsy, childhood absence 6	unknown	NA	NA	0	0	VariationID_2703
CACNA1H:831:V:M	CACNA1H	831	V	M	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	1.221e-05	2	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	12891677,14729682
CACNA1H:831:V:M	CACNA1H	831	V	M	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.221e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:833:T:A	CACNA1H	833	T	A	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_451833
CACNA1H:834:S:N	CACNA1H	834	S	N	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:846:A:V	CACNA1H	846	A	V	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_265068
CACNA1H:847:C:F	CACNA1H	847	C	F	ENST00000348261;NM_021098.2	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0.0001952	2	not provided	unknown	NA	NA	0	0	VariationID_376824
CACNA1H:848:G:S	CACNA1H	848	G	S	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	7.321e-05	2	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	12891677
CACNA1H:848:G:S	CACNA1H	848	G	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	7.321e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:854:R:Q	CACNA1H	854	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002482	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:856:P:L	CACNA1H	856	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.071e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:869:V:I	CACNA1H	869	V	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.000116	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:876:A:T	CACNA1H	876	A	T	ENST00000348261;NM_021098.2	Epilepsy, idiopathic generalized 6;Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign, risk factor	0.001186	2	Epilepsy, idiopathic generalized 6;Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_2706
CACNA1H:876:A:T	CACNA1H	876	A	T	ENST00000348261;NM_021098.2	Idiopathic epilepsy%2C generalised	NA	unknown	hgmd	unknown	DM	0.001186	1	Idiopathic epilepsy%2C generalised	unknown	NA	NA	0	0	17696120
CACNA1H:876:A:T	CACNA1H	876	A	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001186	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:884:R:C	CACNA1H	884	R	C	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	5.057e-06	2	not specified	unknown	NA	NA	0	0	VariationID_379364
CACNA1H:886:F:V	CACNA1H	886	F	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:888:L:M	CACNA1H	888	L	M	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_388460
CACNA1H:902:R:Q	CACNA1H	902	R	Q	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	7.02e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460070
CACNA1H:902:R:W	CACNA1H	902	R	W	ENST00000348261;NM_021098.2	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	2.811e-05	1	Autism spectrum disorder	unknown	NA	NA	0	0	16754686
CACNA1H:903:R:H	CACNA1H	903	R	H	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_379738
CACNA1H:912:M:I	CACNA1H	912	M	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:915:V:M	CACNA1H	915	V	M	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:920:T:M	CACNA1H	920	T	M	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not provided	NA	unknown	clinvar	unknown	Benign/Likely benign	0.00219	3	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not provided	unknown	NA	NA	0	0	VariationID_376802
CACNA1H:920:T:M	CACNA1H	920	T	M	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.00219	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:962:W:C	CACNA1H	962	W	C	ENST00000348261;NM_021098.2	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	unknown	NA	NA	0	0	16754686
CACNA1H:983:G:S	CACNA1H	983	G	S	ENST00000348261;NM_021098.2	Idiopathic epilepsy%2C generalised	NA	unknown	hgmd	unknown	DM	0	1	Idiopathic epilepsy%2C generalised	unknown	NA	NA	0	0	17696120
CACNA1H:997:A:V	CACNA1H	997	A	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.263e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1003:N:S	CACNA1H	1003	N	S	ENST00000348261;NM_021098.2	ASD_noE	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	1.629e-05	2	ASD_noE	unknown	NA	NA	0	0	29942082
CACNA1H:1028:D:N	CACNA1H	1028	D	N	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	3.124e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460076
CACNA1H:1031:E:K	CACNA1H	1031	E	K	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002279	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1034:T:M	CACNA1H	1034	T	M	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	3.073e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460077
CACNA1H:1055:M:V	CACNA1H	1055	M	V	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.0001691	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460080
CACNA1H:1059:A:S	CACNA1H	1059	A	S	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0.00727	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460081
CACNA1H:1059:A:S	CACNA1H	1059	A	S	ENST00000348261;NM_021098.2	Idiopathic epilepsy%2C generalised	NA	unknown	hgmd	unknown	DM	0.00727	1	Idiopathic epilepsy%2C generalised	unknown	NA	NA	0	0	17696120,26706850,25525159
CACNA1H:1059:A:S	CACNA1H	1059	A	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.00727	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1060:V:M	CACNA1H	1060	V	M	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.574e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1066:L:P	CACNA1H	1066	L	P	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.563e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1069:R:Q	CACNA1H	1069	R	Q	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not provided	NA	unknown	clinvar	unknown	Benign/Likely benign	0.001264	3	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not provided	unknown	NA	NA	0	0	VariationID_235710
CACNA1H:1083:T:M	CACNA1H	1083	T	M	ENST00000348261;NM_021098.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	unknown	NA	NA	0	0	VariationID_418103
CACNA1H:1095:D:N	CACNA1H	1095	D	N	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003411	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1098:P:A	CACNA1H	1098	P	A	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1104:R:Q	CACNA1H	1104	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.427e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1111:G:R	CACNA1H	1111	G	R	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0.001326	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460084
CACNA1H:1120:P:S	CACNA1H	1120	P	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.231e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1121:P:L	CACNA1H	1121	P	L	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.0003474	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460085
CACNA1H:1121:P:L	CACNA1H	1121	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003474	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1121:P:R	CACNA1H	1121	P	R	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.287e-05	2	not specified	unknown	NA	NA	0	0	VariationID_383342
CACNA1H:1147:S:G	CACNA1H	1147	S	G	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified	NA	unknown	clinvar	unknown	Benign	0.0009383	3	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified	unknown	NA	NA	0	0	VariationID_446950
CACNA1H:1150:R:H	CACNA1H	1150	R	H	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.818e-05	2	not specified	unknown	NA	NA	0	0	VariationID_382313
CACNA1H:1157:R:C	CACNA1H	1157	R	C	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	7.088e-06	2	not specified	unknown	NA	NA	0	0	VariationID_389092
CACNA1H:1157:R:H	CACNA1H	1157	R	H	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.417e-05	2	not specified	unknown	NA	NA	0	0	VariationID_377618
CACNA1H:1158:G:S	CACNA1H	1158	G	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	7.809e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1170:E:K	CACNA1H	1170	E	K	ENST00000348261;NM_021098.2	Idiopathic epilepsy%2C generalised	NA	unknown	hgmd	unknown	DM	7.05e-06	1	Idiopathic epilepsy%2C generalised	unknown	NA	NA	0	0	17696120
CACNA1H:1187:G:R	CACNA1H	1187	G	R	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	6.771e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460088
CACNA1H:1194:R:W	CACNA1H	1194	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1195:R:W	CACNA1H	1195	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.64e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1197:E:K	CACNA1H	1197	E	K	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.000443	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1201:P:S	CACNA1H	1201	P	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1202:R:W	CACNA1H	1202	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.369e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1205:R:Q	CACNA1H	1205	R	Q	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.0002345	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460089
CACNA1H:1208:A:T	CACNA1H	1208	A	T	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0.0004822	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460090
CACNA1H:1209:L:F	CACNA1H	1209	L	F	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1210:P:L	CACNA1H	1210	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0007575	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1215:R:C	CACNA1H	1215	R	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.389e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1215:R:H	CACNA1H	1215	R	H	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	7.592e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460092
CACNA1H:1216:D:N	CACNA1H	1216	D	N	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.112e-05	3	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified	unknown	NA	NA	0	0	VariationID_387088
CACNA1H:1217:R:C	CACNA1H	1217	R	C	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	3.988e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460093
CACNA1H:1219:G:R	CACNA1H	1219	G	R	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.087e-05	2	not specified	unknown	NA	NA	0	0	VariationID_382547
CACNA1H:1220:Q:L	CACNA1H	1220	Q	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.4e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1233:D:V	CACNA1H	1233	D	V	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.725e-06	2	not specified	unknown	NA	NA	0	0	VariationID_446951
CACNA1H:1241:E:K	CACNA1H	1241	E	K	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.614e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1246:S:L	CACNA1H	1246	S	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	7.867e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1248:D:N	CACNA1H	1248	D	N	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	4.382e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460097
CACNA1H:1253:R:C	CACNA1H	1253	R	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001348	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1264:Q:H	CACNA1H	1264	Q	H	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	0.0006697	1	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	17696120
CACNA1H:1278:S:C	CACNA1H	1278	S	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1282:R:Q	CACNA1H	1282	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.253e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1282:R:W	CACNA1H	1282	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.569e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1306:L:V	CACNA1H	1306	L	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.172e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1309:V:I	CACNA1H	1309	V	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0004859	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1311:I:V	CACNA1H	1311	I	V	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	2.448e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460100
CACNA1H:1321:G:S	CACNA1H	1321	G	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.043e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1325:R:Q	CACNA1H	1325	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.062e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1330:V:I	CACNA1H	1330	V	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001775	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1334:I:M	CACNA1H	1334	I	M	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1355:G:S	CACNA1H	1355	G	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.948e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1357:H:L	CACNA1H	1357	H	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.259e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1374:V:M	CACNA1H	1374	V	M	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0002742	2	not specified	unknown	NA	NA	0	0	VariationID_446952
CACNA1H:1374:V:M	CACNA1H	1374	V	M	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002742	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1382:A:V	CACNA1H	1382	A	V	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_430411
CACNA1H:1386:A:T	CACNA1H	1386	A	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.002e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1402:R:W	CACNA1H	1402	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1415:G:D	CACNA1H	1415	G	D	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.072e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1441:F:I	CACNA1H	1441	F	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1457:Y:F	CACNA1H	1457	Y	F	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.076e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1460:E:K	CACNA1H	1460	E	K	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.0002486	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460115
CACNA1H:1460:E:K	CACNA1H	1460	E	K	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002486	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1463:D:N	CACNA1H	1463	D	N	ENST00000348261;NM_021098.2	Epilepsy%2C childhood absence	NA	unknown	hgmd	unknown	DM	0.0001834	2	Epilepsy%2C childhood absence	unknown	NA	NA	0	0	12891677,14729682
CACNA1H:1474:R:W	CACNA1H	1474	R	W	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Benign	0.0005327	2	not specified	unknown	NA	NA	0	0	VariationID_446953
CACNA1H:1479:R:C	CACNA1H	1479	R	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.966e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1482:R:Q	CACNA1H	1482	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001714	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1495:M:K	CACNA1H	1495	M	K	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_430231
CACNA1H:1502:S:F	CACNA1H	1502	S	F	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1512:D:N	CACNA1H	1512	D	N	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	0.000118	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460117
CACNA1H:1512:D:N	CACNA1H	1512	D	N	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.000118	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1519:V:I	CACNA1H	1519	V	I	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460118
CACNA1H:1520:D:N	CACNA1H	1520	D	N	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	4.89e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460119
CACNA1H:1529:P:L	CACNA1H	1529	P	L	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_387613
CACNA1H:1549:M:I	CACNA1H	1549	M	I	ENST00000348261;NM_021098.2	Aldosteronism%2C primary%2C early-onset	NA	unknown	hgmd	unknown	DM	0	2	Aldosteronism%2C primary%2C early-onset	unknown	NA	NA	0	0	27729216,27729216
CACNA1H:1549:M:V	CACNA1H	1549	M	V	ENST00000348261;NM_021098.2	Primary hyperaldosteronism	NA	unknown	clinvar	unknown	Pathogenic	0	1	Primary hyperaldosteronism	unknown	NA	NA	0	0	VariationID_189779
CACNA1H:1549:M:V	CACNA1H	1549	M	V	ENST00000348261;NM_021098.2	Aldosteronism%2C primary	NA	unknown	hgmd	unknown	DM	0	2	Aldosteronism%2C primary	unknown	NA	NA	0	0	25907736,27258646,25907736
CACNA1H:1551:V:M	CACNA1H	1551	V	M	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	5.284e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460122
CACNA1H:1562:R:Q	CACNA1H	1562	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.221e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1579:R:Q	CACNA1H	1579	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.96e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1580:R:H	CACNA1H	1580	R	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.071e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1585:R:L	CACNA1H	1585	R	L	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.688e-05	2	not specified	unknown	NA	NA	0	0	VariationID_373122
CACNA1H:1588:T:A	CACNA1H	1588	T	A	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460124
CACNA1H:1597:R:Q	CACNA1H	1597	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003743	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1600:Y:C	CACNA1H	1600	Y	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1606:T:M	CACNA1H	1606	T	M	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.005025	3	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not provided;not specified	unknown	NA	NA	0	0	VariationID_96013
CACNA1H:1606:T:M	CACNA1H	1606	T	M	ENST00000348261;NM_021098.2	Idiopathic epilepsy%2C generalised	NA	unknown	hgmd	unknown	DM	0.005025	1	Idiopathic epilepsy%2C generalised	unknown	NA	NA	0	0	17696120
CACNA1H:1606:T:M	CACNA1H	1606	T	M	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.005025	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1608:R:C	CACNA1H	1608	R	C	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	1.933e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460127
CACNA1H:1613:L:M	CACNA1H	1613	L	M	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1614:C:F	CACNA1H	1614	C	F	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1617:H:Y	CACNA1H	1617	H	Y	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.226e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1619:L:F	CACNA1H	1619	L	F	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_424098
CACNA1H:1620:D:N	CACNA1H	1620	D	N	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1636:M:V	CACNA1H	1636	M	V	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	2.475e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460132
CACNA1H:1644:S:L	CACNA1H	1644	S	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.731e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1674:R:C	CACNA1H	1674	R	C	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	2.059e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460136
CACNA1H:1675:R:Q	CACNA1H	1675	R	Q	ENST00000348261;NM_021098.2	Epilepsy with auditory features	NA	unknown	hgmd	unknown	DM	0.0001076	1	Epilepsy with auditory features	unknown	NA	NA	0	0	27066544
CACNA1H:1675:R:Q	CACNA1H	1675	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001076	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1687:A:T	CACNA1H	1687	A	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.151e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1689:V:M	CACNA1H	1689	V	M	ENST00000348261;NM_021098.2	Amyotrophic lateral sclerosis	NA	unknown	hgmd	unknown	DM	1.715e-05	1	Amyotrophic lateral sclerosis	unknown	NA	NA	0	0	25773295,27331657,27331657
CACNA1H:1705:A:T	CACNA1H	1705	A	T	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not provided	NA	unknown	clinvar	unknown	Benign/Likely benign	0.005513	3	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not provided	unknown	NA	NA	0	0	VariationID_377230
CACNA1H:1705:A:T	CACNA1H	1705	A	T	ENST00000348261;NM_021098.2	Idiopathic epilepsy%2C generalised	NA	unknown	hgmd	unknown	DM	0.005513	1	Idiopathic epilepsy%2C generalised	unknown	NA	NA	0	0	17696120,27331657,27331657,25773295
CACNA1H:1705:A:T	CACNA1H	1705	A	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.005513	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1710:N:K	CACNA1H	1710	N	K	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1715:R:H	CACNA1H	1715	R	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.528e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1721:R:H	CACNA1H	1721	R	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.14e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1725:V:L	CACNA1H	1725	V	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.666e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1736:R:H	CACNA1H	1736	R	H	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	2.89e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460140
CACNA1H:1757:M:I	CACNA1H	1757	M	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1757:M:I	CACNA1H	1757	M	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1765:A:V	CACNA1H	1765	A	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.821e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1781:P:R	CACNA1H	1781	P	R	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.205e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1789:A:T	CACNA1H	1789	A	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.666e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1793:N:S	CACNA1H	1793	N	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001216	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1805:S:F	CACNA1H	1805	S	F	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1807:G:E	CACNA1H	1807	G	E	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1823:R:H	CACNA1H	1823	R	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001067	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1832:L:V	CACNA1H	1832	L	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1835:L:P	CACNA1H	1835	L	P	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1838:V:I	CACNA1H	1838	V	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	7.109e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1870:A:T	CACNA1H	1870	A	T	ENST00000348261;NM_021098.2	CACNA1H-related disorder	NA	unknown	clinvar	unknown	not provided	0.0001906	1	CACNA1H-related disorder	unknown	NA	NA	0	0	VariationID_489389
CACNA1H:1871:R:Q	CACNA1H	1871	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.05486	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1874:A:V	CACNA1H	1874	A	V	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	0.0002559	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460148
CACNA1H:1874:A:V	CACNA1H	1874	A	V	ENST00000348261;NM_021098.2	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0.0002559	1	Autism spectrum disorder	unknown	NA	NA	0	0	16754686
CACNA1H:1879:E:D	CACNA1H	1879	E	D	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1885:A:V	CACNA1H	1885	A	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.292e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1889:G:R	CACNA1H	1889	G	R	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.602e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1890:S:R	CACNA1H	1890	S	R	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_451019
CACNA1H:1892:R:H	CACNA1H	1892	R	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.000334	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1892:R:L	CACNA1H	1892	R	L	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0.001205	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460151
CACNA1H:1892:R:L	CACNA1H	1892	R	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001205	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1899:P:L	CACNA1H	1899	P	L	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	0.0002848	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460152
CACNA1H:1899:P:L	CACNA1H	1899	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002848	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1917:R:C	CACNA1H	1917	R	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.00111	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1922:S:F	CACNA1H	1922	S	F	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	6.375e-06	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460153
CACNA1H:1924:M:I	CACNA1H	1924	M	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1937:V:M	CACNA1H	1937	V	M	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001298	2	not specified	unknown	NA	NA	0	0	VariationID_279726
CACNA1H:1946:R:H	CACNA1H	1946	R	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.129e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1947:P:L	CACNA1H	1947	P	L	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0.001241	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460154
CACNA1H:1947:P:L	CACNA1H	1947	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001241	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1951:V:E	CACNA1H	1951	V	E	ENST00000348261;NM_021098.2	Adenoma%2C aldosterone-producing	NA	unknown	hgmd	unknown	DM	9.688e-05	2	Adenoma%2C aldosterone-producing	unknown	NA	NA	0	0	27729216,27729216
CACNA1H:1966:A:V	CACNA1H	1966	A	V	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified	NA	unknown	clinvar	unknown	Benign	0.01698	3	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified	unknown	NA	NA	0	0	VariationID_166781
CACNA1H:1966:A:V	CACNA1H	1966	A	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.01698	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1970:S:C	CACNA1H	1970	S	C	ENST00000348261;NM_021098.2	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	unknown	NA	NA	0	0	26637798
CACNA1H:1971:P:L	CACNA1H	1971	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002546	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1973:A:E	CACNA1H	1973	A	E	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:1974:E:G	CACNA1H	1974	E	G	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified	NA	unknown	clinvar	unknown	Benign	0.03449	3	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified	unknown	NA	NA	0	0	VariationID_446956
CACNA1H:1975:S:F	CACNA1H	1975	S	F	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.0001674	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460156
CACNA1H:1995:L:F	CACNA1H	1995	L	F	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001837	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2001:R:G	CACNA1H	2001	R	G	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2001:R:Q	CACNA1H	2001	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003027	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2005:R:C	CACNA1H	2005	R	C	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.05662	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2008:S:I	CACNA1H	2008	S	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	9.824e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2011:R:Q	CACNA1H	2011	R	Q	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	5.006e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460158
CACNA1H:2011:R:Q	CACNA1H	2011	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.006e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2011:R:W	CACNA1H	2011	R	W	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	0.0001284	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460157
CACNA1H:2011:R:W	CACNA1H	2011	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001284	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2026:G:R	CACNA1H	2026	G	R	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.299e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2048:P:L	CACNA1H	2048	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.902e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2050:T:N	CACNA1H	2050	T	N	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2052:G:E	CACNA1H	2052	G	E	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2060:R:H	CACNA1H	2060	R	H	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Benign	0.1082	2	not specified	unknown	NA	NA	0	0	VariationID_96015
CACNA1H:2060:R:H	CACNA1H	2060	R	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.1082	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2066:S:T	CACNA1H	2066	S	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.052e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2077:R:H	CACNA1H	2077	R	H	ENST00000348261;NM_021098.2	Epilepsy, childhood absence 6;not specified	NA	unknown	clinvar	unknown	Benign	0.6561	3	Epilepsy, childhood absence 6;not specified	unknown	NA	NA	0	0	VariationID_96016
CACNA1H:2082:R:Q	CACNA1H	2082	R	Q	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.301e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2082:R:W	CACNA1H	2082	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.072e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2083:P:L	CACNA1H	2083	P	L	ENST00000348261;NM_021098.2	Hyperaldosteronism%2C type II	NA	unknown	hgmd	unknown	DM	3.151e-05	2	Hyperaldosteronism%2C type II	unknown	NA	NA	0	0	27729216,27729216
CACNA1H:2088:G:R	CACNA1H	2088	G	R	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	2.836e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460161
CACNA1H:2094:S:L	CACNA1H	2094	S	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.042e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2098:D:E	CACNA1H	2098	D	E	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2108:A:T	CACNA1H	2108	A	T	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.001471	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460163
CACNA1H:2108:A:T	CACNA1H	2108	A	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001471	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2108:A:V	CACNA1H	2108	A	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	9.449e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2110:P:S	CACNA1H	2110	P	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.661e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2115:A:T	CACNA1H	2115	A	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2120:P:T	CACNA1H	2120	P	T	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460165
CACNA1H:2121:E:K	CACNA1H	2121	E	K	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	7.434e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2128:G:D	CACNA1H	2128	G	D	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	1.094e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460166
CACNA1H:2128:G:D	CACNA1H	2128	G	D	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.094e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2130:R:W	CACNA1H	2130	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.874e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2140:A:T	CACNA1H	2140	A	T	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.002566	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2147:P:L	CACNA1H	2147	P	L	ENST00000348261;NM_021098.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.53e-05	2	not specified	unknown	NA	NA	0	0	VariationID_389769
CACNA1H:2147:P:L	CACNA1H	2147	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.53e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2152:E:K	CACNA1H	2152	E	K	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2163:G:A	CACNA1H	2163	G	A	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460169
CACNA1H:2164:E:A	CACNA1H	2164	E	A	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.326e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2173:P:S	CACNA1H	2173	P	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0005648	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2181:A:V	CACNA1H	2181	A	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.166e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2182:R:H	CACNA1H	2182	R	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001634	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2182:R:L	CACNA1H	2182	R	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.835e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2189:P:S	CACNA1H	2189	P	S	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	1.188e-05	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460171
CACNA1H:2199:E:K	CACNA1H	2199	E	K	ENST00000348261;NM_021098.2	DD_noE	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	0	2	DD_noE	unknown	NA	NA	0	0	29942082
CACNA1H:2204:A:V	CACNA1H	2204	A	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.5e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2205:R:W	CACNA1H	2205	R	W	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.477e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2208:A:V	CACNA1H	2208	A	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002178	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2209:A:P	CACNA1H	2209	A	P	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	0.0002407	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460172
CACNA1H:2209:A:P	CACNA1H	2209	A	P	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002407	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2212:G:S	CACNA1H	2212	G	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.895e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2218:R:H	CACNA1H	2218	R	H	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.001531	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460174
CACNA1H:2218:R:H	CACNA1H	2218	R	H	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001531	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2238:S:L	CACNA1H	2238	S	L	ENST00000348261;NM_021098.2	not provided	NA	unknown	clinvar	unknown	Uncertain significance	2.26e-05	1	not provided	unknown	NA	NA	0	0	VariationID_493167
CACNA1H:2240:A:T	CACNA1H	2240	A	T	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	0.0001263	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460176
CACNA1H:2241:G:R	CACNA1H	2241	G	R	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0004706	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2250:R:H	CACNA1H	2250	R	H	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	4.29e-06	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460178
CACNA1H:2250:R:S	CACNA1H	2250	R	S	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460177
CACNA1H:2250:R:S	CACNA1H	2250	R	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2262:T:A	CACNA1H	2262	T	A	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.141e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2263:V:I	CACNA1H	2263	V	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.24e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2283:D:V	CACNA1H	2283	D	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003907	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2289:T:I	CACNA1H	2289	T	I	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2299:A:V	CACNA1H	2299	A	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.069e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2300:I:V	CACNA1H	2300	I	V	ENST00000348261;NM_021098.2	Abnormality of brain morphology	NA	unknown	clinvar	unknown	Likely pathogenic	6.104e-05	2	Abnormality of brain morphology	unknown	NA	NA	0	0	VariationID_402205
CACNA1H:2300:I:V	CACNA1H	2300	I	V	ENST00000348261;NM_021098.2	Intellectual disability%2C microcephaly and cortical atrophy	NA	unknown	hgmd	unknown	DM	6.104e-05	1	Intellectual disability%2C microcephaly and cortical atrophy	unknown	NA	NA	0	0	26539891
CACNA1H:2312:M:V	CACNA1H	2312	M	V	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Benign	0.001619	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460180
CACNA1H:2312:M:V	CACNA1H	2312	M	V	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001619	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2315:G:S	CACNA1H	2315	G	S	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.0005007	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460182
CACNA1H:2315:G:S	CACNA1H	2315	G	S	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0005007	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2332:P:L	CACNA1H	2332	P	L	ENST00000348261;NM_021098.2	not provided	NA	unknown	clinvar	unknown	Uncertain significance	4.11e-06	1	not provided	unknown	NA	NA	0	0	VariationID_374416
CACNA1H:2332:P:L	CACNA1H	2332	P	L	ENST00000348261;NM_021098.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.11e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
CACNA1H:2353:V:M	CACNA1H	2353	V	M	ENST00000348261;NM_021098.2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	NA	unknown	clinvar	unknown	Likely benign	0.0001171	2	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	unknown	NA	NA	0	0	VariationID_460185
CACNA1I:407:R:W	CACNA1I	407	R	W	ENST00000402142;NM_021096.3	ID_noE	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	0	2	ID_noE	unknown	NA	NA	0	0	29942082
CACNA1I:723:A:V	CACNA1I	723	A	V	ENST00000402142;NM_021096.3	DD_noE	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	1.802e-05	2	DD_noE	unknown	NA	NA	0	0	29942082
CACNA1I:797:T:M	CACNA1I	797	T	M	ENST00000402142;NM_021096.3	Schizophrenia	NA	unknown	hgmd	unknown	DM	4.837e-06	1	Schizophrenia	unknown	NA	NA	0	0	23911319
CACNA1I:1306:I:T	CACNA1I	1306	I	T	ENST00000402142;NM_021096.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_252734
CACNA1I:1346:R:H	CACNA1I	1346	R	H	ENST00000402142;NM_021096.3	Schizophrenia	NA	unknown	hgmd	unknown	DM	0	1	Schizophrenia	unknown	NA	NA	0	0	23911319
CACNA1I:1479:L:F	CACNA1I	1479	L	F	ENST00000402142;NM_021096.3	Rett-like syndrome	NA	unknown	hgmd	unknown	DM	0	1	Rett-like syndrome	unknown	NA	NA	0	0	27541642
CACNA1S:31:L:F	CACNA1S	31	L	F	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	8.121e-05	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_474008
CACNA1S:63:A:S	CACNA1S	63	A	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	maf_pathogenic	NA	NA	0	0	VariationID_294785
CACNA1S:66:V:M	CACNA1S	66	V	M	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	maf_pathogenic	NA	NA	0	0	VariationID_294784
CACNA1S:67:A:V	CACNA1S	67	A	V	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	maf_pathogenic	NA	NA	0	0	VariationID_473972
CACNA1S:69:A:G	CACNA1S	69	A	G	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign/Likely benign	0.03654	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_254811
CACNA1S:69:A:G	CACNA1S	69	A	G	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	unknown	DM	0.03654	1	Malignant hyperthermia	unknown	NA	NA	0	0	28259615
CACNA1S:70:V:M	CACNA1S	70	V	M	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001828	2	not specified	unknown	NA	NA	0	0	VariationID_388920
CACNA1S:88:K:E	CACNA1S	88	K	E	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0002355	2	not specified	unknown	NA	NA	0	0	VariationID_422981
CACNA1S:100:E:K	CACNA1S	100	E	K	ENST00000362061;NM_000069.2	Myopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myopathy	maf_pathogenic	NA	NA	0	1	28012042
CACNA1S:119:R:P	CACNA1S	119	R	P	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	8.121e-06	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294781
CACNA1S:128:T:S	CACNA1S	128	T	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign/Likely benign	0.0005157	3	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility;not specified	unknown	NA	NA	0	0	VariationID_254832
CACNA1S:132:L:M	CACNA1S	132	L	M	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign/Likely benign	0.001433	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_254833
CACNA1S:135:F:S	CACNA1S	135	F	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	maf_pathogenic	NA	NA	0	0	VariationID_473993
CACNA1S:154:S:G	CACNA1S	154	S	G	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	0.0001381	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_473997
CACNA1S:161:V:A	CACNA1S	161	V	A	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.904e-05	2	not specified	unknown	NA	NA	0	0	VariationID_452195
CACNA1S:161:V:I	CACNA1S	161	V	I	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.061e-05	2	not specified	unknown	NA	NA	0	0	VariationID_384035
CACNA1S:164:L:F	CACNA1S	164	L	F	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.218e-05	2	not specified	unknown	NA	NA	0	0	VariationID_446963
CACNA1S:174:R:W	CACNA1S	174	R	W	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	unknown	DM	2.844e-05	2	Malignant hyperthermia	unknown	NA	NA	0	0	19825159,23663834,22547813
CACNA1S:176:V:L	CACNA1S	176	V	L	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Malignant hyperthermia susceptibility type 5	maf_pathogenic	NA	NA	0	0	VariationID_374944
CACNA1S:177:S:L	CACNA1S	177	S	L	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0004307	0	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility;not specified	unknown	NA	NA	0	0	VariationID_199686
CACNA1S:200:A:T	CACNA1S	200	A	T	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	5.688e-05	0	Hypokalemic periodic paralysis;Malignant hyperthermia;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294777
CACNA1S:207:V:I	CACNA1S	207	V	I	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	1.625e-05	3	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_420411
CACNA1S:230:G:S	CACNA1S	230	G	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	4.061e-06	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	maf_pathogenic	NA	NA	0	0	VariationID_294776
CACNA1S:236:T:K	CACNA1S	236	T	K	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_453092
CACNA1S:248:T:M	CACNA1S	248	T	M	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002442	0	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_294774
CACNA1S:258:G:D	CACNA1S	258	G	D	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign/Likely benign	0.007883	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_254853
CACNA1S:258:G:S	CACNA1S	258	G	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	maf_pathogenic	NA	NA	0	0	VariationID_294773
CACNA1S:258:G:V	CACNA1S	258	G	V	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0003291	0	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;not provided	unknown	NA	NA	0	0	VariationID_445303
CACNA1S:275:F:L	CACNA1S	275	F	L	ENST00000362061;NM_000069.2	Myopathy	NA	unknown	hgmd	unknown	DM	2.843e-05	2	Myopathy	unknown	NA	NA	0	0	28012042
CACNA1S:297:V:I	CACNA1S	297	V	I	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	3.251e-05	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294772
CACNA1S:299:Y:H	CACNA1S	299	Y	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign/Likely benign	0.001662	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not provided;not specified	unknown	NA	NA	0	0	VariationID_254855
CACNA1S:300:W:R	CACNA1S	300	W	R	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	4.877e-05	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_474007
CACNA1S:364:R:Q	CACNA1S	364	R	Q	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	4.467e-05	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_473963
CACNA1S:389:D:V	CACNA1S	389	D	V	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001473	2	not specified	unknown	NA	NA	0	0	VariationID_373207
CACNA1S:398:L:Q	CACNA1S	398	L	Q	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Malignant hyperthermia	maf_pathogenic	NA	NA	0	0	VariationID_252460
CACNA1S:419:R:H	CACNA1S	419	R	H	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.655e-05	2	not specified	unknown	NA	NA	0	0	VariationID_451262
CACNA1S:434:F:S	CACNA1S	434	F	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0.0006538	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294768
CACNA1S:451:S:L	CACNA1S	451	S	L	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	5.279e-05	3	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility;not specified	unknown	NA	NA	0	0	VariationID_294767
CACNA1S:457:P:L	CACNA1S	457	P	L	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_432592
CACNA1S:457:P:S	CACNA1S	457	P	S	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.062e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_423703
CACNA1S:458:L:H	CACNA1S	458	L	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign	0.2401	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_254789
CACNA1S:461:T:N	CACNA1S	461	T	N	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.219e-05	2	not specified	unknown	NA	NA	0	0	VariationID_393259
CACNA1S:470:V:L	CACNA1S	470	V	L	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_429471
CACNA1S:498:R:C	CACNA1S	498	R	C	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.842e-05	2	not specified	unknown	NA	NA	0	0	VariationID_446957
CACNA1S:498:R:H	CACNA1S	498	R	H	ENST00000362061;NM_000069.2	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0.0001827	1	not provided	unknown	NA	NA	0	0	VariationID_424926
CACNA1S:498:R:H	CACNA1S	498	R	H	ENST00000362061;NM_000069.2	Exertional heat illness	NA	unknown	hgmd	unknown	DM	0.0001827	1	Exertional heat illness	unknown	NA	NA	0	0	25658027
CACNA1S:498:R:L	CACNA1S	498	R	L	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0005888	0	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_279727
CACNA1S:498:R:L	CACNA1S	498	R	L	ENST00000362061;NM_000069.2	Takotsubo (stress) cardiomyopathy	NA	unknown	hgmd	unknown	DM	0.0005888	1	Takotsubo (stress) cardiomyopathy	unknown	NA	NA	0	0	25132214,25735680
CACNA1S:501:C:F	CACNA1S	501	C	F	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.218e-05	2	not specified	unknown	NA	NA	0	0	VariationID_446958
CACNA1S:516:S:L	CACNA1S	516	S	L	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign/Likely benign	0.002014	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_225281
CACNA1S:528:R:C	CACNA1S	528	R	C	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	unknown	DM	8.132e-06	2	Hypokalaemic periodic paralysis	unknown	NA	NA	0	0	25430699
CACNA1S:528:R:G	CACNA1S	528	R	G	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Pathogenic	0	1	Hypokalemic periodic paralysis 1	maf_pathogenic	NA	NA	0	0	VariationID_21034
CACNA1S:528:R:G	CACNA1S	528	R	G	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Hypokalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	15726306,19822448
CACNA1S:528:R:H	CACNA1S	528	R	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Hypokalemic periodic paralysis 1;not provided	maf_pathogenic	NA	NA	1	1	VariationID_17625
CACNA1S:528:R:H	CACNA1S	528	R	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Hypokalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	7987325,11034874,7847370,9512357,19225109,11808349,15098604,8605978,17587224,23187123
CACNA1S:528:R:L	CACNA1S	528	R	L	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	1.22e-05	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_473965
CACNA1S:543:T:M	CACNA1S	543	T	M	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	3.253e-05	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294763
CACNA1S:557:R:H	CACNA1S	557	R	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign/Likely benign	0.001527	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_294761
CACNA1S:560:A:S	CACNA1S	560	A	S	ENST00000362061;NM_000069.2	Rhabdomyolysis	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Rhabdomyolysis	maf_pathogenic	NA	NA	0	1	28779239
CACNA1S:560:A:T	CACNA1S	560	A	T	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	2.436e-05	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294760
CACNA1S:571:V:I	CACNA1S	571	V	I	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign/Likely benign	0.0005035	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not provided;not specified	unknown	NA	NA	0	0	VariationID_254802
CACNA1S:582:G:A	CACNA1S	582	G	A	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	7.715e-05	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294758
CACNA1S:594:R:C	CACNA1S	594	R	C	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign/Likely benign	0.0005847	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_294757
CACNA1S:594:R:H	CACNA1S	594	R	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	1.624e-05	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_473967
CACNA1S:605:I:V	CACNA1S	605	I	V	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	5.685e-05	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294756
CACNA1S:606:S:N	CACNA1S	606	S	N	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign/Likely benign	0.008186	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_254803
CACNA1S:606:S:N	CACNA1S	606	S	N	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	unknown	DM	0.008186	1	Malignant hyperthermia	unknown	NA	NA	0	0	25658027,27153395
CACNA1S:618:S:A	CACNA1S	618	S	A	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	2.03e-05	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_473968
CACNA1S:628:G:S	CACNA1S	628	G	S	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.121e-06	2	not specified	unknown	NA	NA	0	0	VariationID_422240
CACNA1S:629:G:R	CACNA1S	629	G	R	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	5.279e-05	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294754
CACNA1S:635:M:K	CACNA1S	635	M	K	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.061e-05	2	not specified	unknown	NA	NA	0	0	VariationID_429388
CACNA1S:635:M:V	CACNA1S	635	M	V	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	0.0005116	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_294753
CACNA1S:649:N:H	CACNA1S	649	N	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0.0001137	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294752
CACNA1S:661:V:M	CACNA1S	661	V	M	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	4.068e-06	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	maf_pathogenic	NA	NA	0	0	VariationID_473970
CACNA1S:666:E:K	CACNA1S	666	E	K	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	1.626e-05	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_473971
CACNA1S:683:R:C	CACNA1S	683	R	C	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign/Likely benign	0.002393	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_199685
CACNA1S:683:R:C	CACNA1S	683	R	C	ENST00000362061;NM_000069.2	Exertional heat illness	NA	unknown	hgmd	unknown	DM	0.002393	1	Exertional heat illness	unknown	NA	NA	0	0	25658027
CACNA1S:683:R:H	CACNA1S	683	R	H	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.662e-05	2	not specified	unknown	NA	NA	0	0	VariationID_429405
CACNA1S:700:T:M	CACNA1S	700	T	M	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001827	2	not specified	unknown	NA	NA	0	0	VariationID_422578
CACNA1S:701:M:I	CACNA1S	701	M	I	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	maf_pathogenic	NA	NA	0	0	VariationID_473973
CACNA1S:742:P:Q	CACNA1S	742	P	Q	ENST00000362061;NM_000069.2	Myopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myopathy	maf_pathogenic	NA	NA	0	1	28012042
CACNA1S:742:P:S	CACNA1S	742	P	S	ENST00000362061;NM_000069.2	Myopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myopathy	maf_pathogenic	NA	NA	0	1	28012042
CACNA1S:789:R:C	CACNA1S	789	R	C	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.335e-05	2	not specified	unknown	NA	NA	0	0	VariationID_389230
CACNA1S:794:R:H	CACNA1S	794	R	H	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001673	2	not specified	unknown	NA	NA	0	0	VariationID_452623
CACNA1S:803:N:D	CACNA1S	803	N	D	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.706e-05	2	not specified	unknown	NA	NA	0	0	VariationID_450854
CACNA1S:807:L:F	CACNA1S	807	L	F	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	1.073e-05	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294746
CACNA1S:814:A:T	CACNA1S	814	A	T	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	0.001212	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_294744
CACNA1S:814:A:T	CACNA1S	814	A	T	ENST00000362061;NM_000069.2	Takotsubo (stress) cardiomyopathy	NA	unknown	hgmd	unknown	DM	0.001212	1	Takotsubo (stress) cardiomyopathy	unknown	NA	NA	0	0	25132214,25735680,27153395
CACNA1S:823:R:W	CACNA1S	823	R	W	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	6.383e-05	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_473977
CACNA1S:827:M:T	CACNA1S	827	M	T	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign/Likely benign	0.002573	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_254816
CACNA1S:854:Y:S	CACNA1S	854	Y	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	maf_pathogenic	NA	NA	0	0	VariationID_294743
CACNA1S:861:G:A	CACNA1S	861	G	A	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.437e-05	2	not specified	unknown	NA	NA	0	0	VariationID_385304
CACNA1S:865:R:H	CACNA1S	865	R	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	0.0001219	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294742
CACNA1S:876:V:E	CACNA1S	876	V	E	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Pathogenic	0	1	Hypokalemic periodic paralysis 1	maf_pathogenic	NA	NA	0	0	VariationID_17631
CACNA1S:876:V:E	CACNA1S	876	V	E	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Hypokalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	19779499,23948435
CACNA1S:897:R:K	CACNA1S	897	R	K	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	maf_pathogenic	NA	NA	0	0	VariationID_473979
CACNA1S:897:R:S	CACNA1S	897	R	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Hypokalemic periodic paralysis 1;not specified	maf_pathogenic	NA	NA	0	0	VariationID_17630
CACNA1S:897:R:S	CACNA1S	897	R	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Hypokalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	18835861,22901280
CACNA1S:898:V:M	CACNA1S	898	V	M	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	maf_pathogenic	NA	NA	0	0	VariationID_294740
CACNA1S:900:R:G	CACNA1S	900	R	G	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Hypokalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	21855088
CACNA1S:900:R:S	CACNA1S	900	R	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Hypokalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	19118277,26433613
CACNA1S:916:H:Q	CACNA1S	916	H	Q	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Pathogenic	0	1	Hypokalemic periodic paralysis 1	maf_pathogenic	NA	NA	0	0	VariationID_143198
CACNA1S:923:V:L	CACNA1S	923	V	L	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	1.224e-05	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_473981
CACNA1S:923:V:M	CACNA1S	923	V	M	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	2.448e-05	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_473980
CACNA1S:974:V:M	CACNA1S	974	V	M	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	2.45e-05	3	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_387090
CACNA1S:979:D:G	CACNA1S	979	D	G	ENST00000362061;NM_000069.2	Schizophrenia	NA	unknown	hgmd	unknown	DM	0	1	Schizophrenia	maf_pathogenic	NA	NA	0	0	24463507
CACNA1S:986:R:H	CACNA1S	986	R	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	9.757e-05	3	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility;not specified	unknown	NA	NA	0	0	VariationID_294736
CACNA1S:993:S:R	CACNA1S	993	S	R	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	8.125e-06	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294735
CACNA1S:998:D:E	CACNA1S	998	D	E	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	maf_pathogenic	NA	NA	0	0	VariationID_294734
CACNA1S:998:D:N	CACNA1S	998	D	N	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0004427	0	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_225282
CACNA1S:1009:T:K	CACNA1S	1009	T	K	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	unknown	DM	1.219e-05	1	Malignant hyperthermia	unknown	NA	NA	0	0	24013571,25658027
CACNA1S:1009:T:M	CACNA1S	1009	T	M	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	9.342e-05	2	not specified	unknown	NA	NA	0	0	VariationID_265070
CACNA1S:1037:N:K	CACNA1S	1037	N	K	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	4.061e-06	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	maf_pathogenic	NA	NA	0	0	VariationID_473983
CACNA1S:1086:R:C	CACNA1S	1086	R	C	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	2.031e-05	2	Hypokalaemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_21035
CACNA1S:1086:R:C	CACNA1S	1086	R	C	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	unknown	DM	2.031e-05	2	Hypokalaemic periodic paralysis	unknown	NA	NA	0	0	10590402,25637381
CACNA1S:1086:R:H	CACNA1S	1086	R	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	risk factor	4.061e-06	1	Malignant hyperthermia susceptibility type 5	maf_pathogenic	NA	NA	0	0	VariationID_17626
CACNA1S:1086:R:H	CACNA1S	1086	R	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	(Likely)pathogenic	DM	4.061e-06	2	Malignant hyperthermia	maf_pathogenic	NA	NA	1	1	9199552
CACNA1S:1086:R:S	CACNA1S	1086	R	S	ENST00000362061;NM_000069.2	not provided	NA	unknown	clinvar	unknown	not provided	2.437e-05	1	not provided	unknown	NA	NA	0	0	VariationID_156288
CACNA1S:1086:R:S	CACNA1S	1086	R	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	unknown	DM	2.437e-05	2	Malignant hyperthermia	unknown	NA	NA	0	0	20431982,26332594
CACNA1S:1096:R:H	CACNA1S	1096	R	H	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Likely benign	7.715e-05	2	not specified	unknown	NA	NA	0	0	VariationID_446960
CACNA1S:1111:V:M	CACNA1S	1111	V	M	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	0.0002436	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294731
CACNA1S:1113:Y:H	CACNA1S	1113	Y	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	maf_pathogenic	NA	NA	0	0	VariationID_473985
CACNA1S:1139:H:P	CACNA1S	1139	H	P	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	4.469e-05	2	Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_374942
CACNA1S:1140:Y:C	CACNA1S	1140	Y	C	ENST00000362061;NM_000069.2	not provided	NA	unknown	clinvar	unknown	Uncertain significance	4.063e-06	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_493060
CACNA1S:1142:Q:P	CACNA1S	1142	Q	P	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	0.0002356	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_473986
CACNA1S:1148:H:Y	CACNA1S	1148	H	Y	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	maf_pathogenic	NA	NA	0	0	VariationID_473987
CACNA1S:1195:I:T	CACNA1S	1195	I	T	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	1.624e-05	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_473988
CACNA1S:1210:G:R	CACNA1S	1210	G	R	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.000437	0	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility;not specified	unknown	NA	NA	0	0	VariationID_294729
CACNA1S:1221:N:I	CACNA1S	1221	N	I	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	maf_pathogenic	NA	NA	0	0	VariationID_294728
CACNA1S:1222:V:I	CACNA1S	1222	V	I	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	0.0001385	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_473989
CACNA1S:1229:R:P	CACNA1S	1229	R	P	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	4.075e-05	2	Malignant hyperthermia	unknown	NA	NA	0	0	VariationID_496658
CACNA1S:1239:R:G	CACNA1S	1239	R	G	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Hypokalemic periodic paralysis 1;not provided	maf_pathogenic	NA	NA	1	1	VariationID_17624
CACNA1S:1239:R:G	CACNA1S	1239	R	G	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Hypokalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	8004673,15716625,21891927,18229654
CACNA1S:1239:R:H	CACNA1S	1239	R	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Hypokalemic periodic paralysis 1;not provided	maf_pathogenic	NA	NA	1	1	VariationID_17623
CACNA1S:1239:R:H	CACNA1S	1239	R	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Hypokalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	7847370,17418573,19225109,16767662,11555352,10639629
CACNA1S:1241:M:T	CACNA1S	1241	M	T	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.626e-05	2	not specified	unknown	NA	NA	0	0	VariationID_279728
CACNA1S:1242:R:G	CACNA1S	1242	R	G	ENST00000362061;NM_000069.2	Normokalaemic periodic paralysis	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Normokalaemic periodic paralysis	maf_pathogenic	NA	NA	0	1	24240197
CACNA1S:1265:Q:H	CACNA1S	1265	Q	H	ENST00000362061;NM_000069.2	Myopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	4.062e-06	2	Myopathy	maf_pathogenic	NA	NA	0	1	26247046,28012042
CACNA1S:1271:A:T	CACNA1S	1271	A	T	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign/Likely benign	0.001271	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_254830
CACNA1S:1282:A:S	CACNA1S	1282	A	S	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.53e-05	2	not specified	unknown	NA	NA	0	0	VariationID_389110
CACNA1S:1297:G:E	CACNA1S	1297	G	E	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	0.0002924	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_473992
CACNA1S:1302:R:W	CACNA1S	1302	R	W	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0.0001178	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294725
CACNA1S:1324:A:T	CACNA1S	1324	A	T	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	maf_pathogenic	NA	NA	0	0	VariationID_294724
CACNA1S:1354:T:I	CACNA1S	1354	T	I	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	8.121e-06	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294722
CACNA1S:1354:T:S	CACNA1S	1354	T	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.002599	0	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia, susceptibility to, 1;not provided;not specified	unknown	NA	NA	0	0	VariationID_161208
CACNA1S:1354:T:S	CACNA1S	1354	T	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	unknown	DM	0.002599	1	Malignant hyperthermia	unknown	NA	NA	0	0	20861472,25637381,24055113,25735680,24195946,24784157,27153395,26332594
CACNA1S:1367:L:V	CACNA1S	1367	L	V	ENST00000362061;NM_000069.2	Myopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myopathy	maf_pathogenic	NA	NA	0	1	28012042
CACNA1S:1415:G:R	CACNA1S	1415	G	R	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	4.209e-06	3	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility;not specified	maf_pathogenic	NA	NA	0	0	VariationID_294721
CACNA1S:1437:K:Q	CACNA1S	1437	K	Q	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	4.07e-06	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	maf_pathogenic	NA	NA	0	0	VariationID_473995
CACNA1S:1449:V:G	CACNA1S	1449	V	G	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.2084	0	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_294720
CACNA1S:1488:E:K	CACNA1S	1488	E	K	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	0.0002031	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_294716
CACNA1S:1508:Q:E	CACNA1S	1508	Q	E	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_422368
CACNA1S:1516:D:H	CACNA1S	1516	D	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	7.716e-05	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294715
CACNA1S:1539:R:C	CACNA1S	1539	R	C	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign	0.1166	3	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility;not specified	unknown	NA	NA	0	0	VariationID_197021
CACNA1S:1547:R:W	CACNA1S	1547	R	W	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	unknown	DM	0.0001218	2	Hypokalaemic periodic paralysis with malignant hyperthermia susceptibility 5	unknown	NA	NA	0	0	27066551
CACNA1S:1583:E:K	CACNA1S	1583	E	K	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0.000248	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294714
CACNA1S:1599:R:W	CACNA1S	1599	R	W	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	3.252e-05	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_473998
CACNA1S:1604:L:M	CACNA1S	1604	L	M	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.224e-05	2	not specified	unknown	NA	NA	0	0	VariationID_388777
CACNA1S:1621:V:A	CACNA1S	1621	V	A	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_422977
CACNA1S:1628:L:F	CACNA1S	1628	L	F	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	3.655e-05	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294710
CACNA1S:1639:E:K	CACNA1S	1639	E	K	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.061e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_446964
CACNA1S:1639:E:V	CACNA1S	1639	E	V	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	7.309e-05	2	not specified	unknown	NA	NA	0	0	VariationID_426437
CACNA1S:1652:R:C	CACNA1S	1652	R	C	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0004101	0	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_294709
CACNA1S:1654:N:K	CACNA1S	1654	N	K	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Malignant hyperthermia susceptibility type 5	maf_pathogenic	NA	NA	0	0	VariationID_374943
CACNA1S:1658:R:H	CACNA1S	1658	R	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign	0.06094	3	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility;not specified	unknown	NA	NA	0	0	VariationID_254842
CACNA1S:1666:A:T	CACNA1S	1666	A	T	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Likely benign	7.312e-05	2	not specified	unknown	NA	NA	0	0	VariationID_515194
CACNA1S:1670:Y:N	CACNA1S	1670	Y	N	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0.0001626	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294708
CACNA1S:1674:N:H	CACNA1S	1674	N	H	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	maf_pathogenic	NA	NA	0	0	VariationID_294707
CACNA1S:1702:R:Q	CACNA1S	1702	R	Q	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001219	2	not specified	unknown	NA	NA	0	0	VariationID_388826
CACNA1S:1750:M:V	CACNA1S	1750	M	V	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.158e-06	2	not specified	unknown	NA	NA	0	0	VariationID_452887
CACNA1S:1767:P:T	CACNA1S	1767	P	T	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	0.0002445	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_474000
CACNA1S:1772:T:S	CACNA1S	1772	T	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	maf_pathogenic	NA	NA	0	0	VariationID_474001
CACNA1S:1800:L:S	CACNA1S	1800	L	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign	0.1461	3	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility;not specified	unknown	NA	NA	0	0	VariationID_254847
CACNA1S:1806:F:S	CACNA1S	1806	F	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Malignant hyperthermia	maf_pathogenic	NA	NA	0	0	VariationID_496653
CACNA1S:1821:E:G	CACNA1S	1821	E	G	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_392277
CACNA1S:1830:T:R	CACNA1S	1830	T	R	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	0	2	Malignant hyperthermia	maf_pathogenic	NA	NA	0	0	VariationID_496656
CACNA1S:1837:E:A	CACNA1S	1837	E	A	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	0.0003291	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_294706
CACNA1S:1839:P:S	CACNA1S	1839	P	S	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Benign/Likely benign	0.002426	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_294705
CACNA1S:1839:P:S	CACNA1S	1839	P	S	ENST00000362061;NM_000069.2	Exertional heat illness	NA	unknown	hgmd	unknown	DM	0.002426	1	Exertional heat illness	unknown	NA	NA	0	0	25658027,27153395
CACNA1S:1850:N:K	CACNA1S	1850	N	K	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Uncertain significance	6.51e-05	2	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5	unknown	NA	NA	0	0	VariationID_474005
CACNA1S:1850:N:K	CACNA1S	1850	N	K	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	unknown	DM	6.51e-05	1	Malignant hyperthermia	unknown	NA	NA	0	0	28259615
CACNA1S:1852:G:R	CACNA1S	1852	G	R	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	0.0002727	2	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	unknown	NA	NA	0	0	VariationID_294704
CACNA1S:1857:S:N	CACNA1S	1857	S	N	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	clinvar	unknown	Likely benign	0.002083	3	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified	unknown	NA	NA	0	0	VariationID_254850
CACNA1S:1857:S:N	CACNA1S	1857	S	N	ENST00000362061;NM_000069.2	Hypokalaemic_periodic_paralysis_Mal_hyperthermia	NA	lof	hgmd	unknown	DM	0.002083	1	Malignant hyperthermia	unknown	NA	NA	0	0	28259615
CACNA1S:1859:D:G	CACNA1S	1859	D	G	ENST00000362061;NM_000069.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_392278
SCN10A:56:D:E	SCN10A	56	D	E	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.067e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:84:P:L	SCN10A	84	P	L	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.145e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:158:Y:D	SCN10A	158	Y	D	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002275	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:200:A:V	SCN10A	200	A	V	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001178	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:230:P:A	SCN10A	230	P	A	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.282e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:285:E:K	SCN10A	285	E	K	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0004398	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:295:P:S	SCN10A	295	P	S	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.241e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:302:R:Q	SCN10A	302	R	Q	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002482	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:306:D:H	SCN10A	306	D	H	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.066e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:380:V:I	SCN10A	380	V	I	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0005648	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:381:I:V	SCN10A	381	I	V	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0006623	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:386:F:C	SCN10A	386	F	C	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0005038	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:473:D:H	SCN10A	473	D	H	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.03e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:497:R:C	SCN10A	497	R	C	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.579e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:534:R:Q	SCN10A	534	R	Q	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.887e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:664:D:G	SCN10A	664	D	G	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:688:G:S	SCN10A	688	G	S	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.438e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:810:G:W	SCN10A	810	G	W	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002775	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:814:R:H	SCN10A	814	R	H	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002729	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:825:E:D	SCN10A	825	E	D	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0008901	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:913:A:T	SCN10A	913	A	T	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003534	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:991:P:L	SCN10A	991	P	L	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.000985	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1121:R:S	SCN10A	1121	R	S	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001141	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1139:W:C	SCN10A	1139	W	C	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001097	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1243:V:M	SCN10A	1243	V	M	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.124e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1250:R:Q	SCN10A	1250	R	Q	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.062e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1268:R:Q	SCN10A	1268	R	Q	ENST00000449082;NM_006514.2	DD_noE	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	0.001676	2	DD_noE	unknown	NA	NA	0	0	29942082
SCN10A:1268:R:Q	SCN10A	1268	R	Q	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001676	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1280:S:T	SCN10A	1280	S	T	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.509e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1287:V:I	SCN10A	1287	V	I	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0005489	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1296:S:I	SCN10A	1296	S	I	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001747	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1337:S:T	SCN10A	1337	S	T	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.00461	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1460:R:Q	SCN10A	1460	R	Q	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001016	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1490:M:V	SCN10A	1490	M	V	ENST00000449082;NM_006514.2	DD_noE	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	0	2	DD_noE	unknown	NA	NA	0	0	29942082
SCN10A:1523:C:Y	SCN10A	1523	C	Y	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001159	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1527:M:I	SCN10A	1527	M	I	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.505e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1536:T:R	SCN10A	1536	T	R	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.629e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1552:A:V	SCN10A	1552	A	V	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.543e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1662:G:S	SCN10A	1662	G	S	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001492	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1702:F:L	SCN10A	1702	F	L	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1863:R:Q	SCN10A	1863	R	Q	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.441e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1865:Y:C	SCN10A	1865	Y	C	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1869:R:C	SCN10A	1869	R	C	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001013	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN10A:1900:N:S	SCN10A	1900	N	S	ENST00000449082;NM_006514.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.063e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:32:A:V	SCN11A	32	A	V	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Likely benign	0.000666	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474759
SCN11A:32:A:V	SCN11A	32	A	V	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.000666	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:46:E:K	SCN11A	46	E	K	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	unknown	NA	NA	0	0	VariationID_374657
SCN11A:51:R:Q	SCN11A	51	R	Q	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:58:A:P	SCN11A	58	A	P	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474694
SCN11A:60:R:S	SCN11A	60	R	S	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.061e-06	2	not specified	unknown	NA	NA	0	0	VariationID_450384
SCN11A:65:L:F	SCN11A	65	L	F	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.062e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:92:M:V	SCN11A	92	M	V	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:155:N:K	SCN11A	155	N	K	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	4.115e-06	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474731
SCN11A:157:N:I	SCN11A	157	N	I	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	8.237e-06	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474733
SCN11A:161:I:V	SCN11A	161	I	V	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474734
SCN11A:222:R:H	SCN11A	222	R	H	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome	NA	unknown	hgmd	unknown	DM	0	2	Episodic pain syndrome	unknown	NA	NA	0	0	27224030,27503742,27503742
SCN11A:222:R:S	SCN11A	222	R	S	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome	NA	unknown	hgmd	unknown	DM	0	2	Episodic pain syndrome	unknown	NA	NA	0	0	27224030
SCN11A:225:R:C	SCN11A	225	R	C	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3	NA	unknown	clinvar	unknown	Pathogenic	0	1	Episodic pain syndrome, familial, 3	unknown	NA	NA	0	0	VariationID_69850
SCN11A:225:R:C	SCN11A	225	R	C	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome	NA	unknown	hgmd	unknown	DM	0	2	Episodic pain syndrome	unknown	NA	NA	0	0	24207120,28298626
SCN11A:232:A:V	SCN11A	232	A	V	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474751
SCN11A:235:V:L	SCN11A	235	V	L	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	4.066e-06	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474753
SCN11A:238:R:C	SCN11A	238	R	C	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	0.0002034	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474754
SCN11A:238:R:C	SCN11A	238	R	C	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002034	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:245:A:S	SCN11A	245	A	S	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_450977
SCN11A:248:R:C	SCN11A	248	R	C	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	4.483e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474755
SCN11A:254:V:F	SCN11A	254	V	F	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Benign	0.001669	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474757
SCN11A:313:C:Y	SCN11A	313	C	Y	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474758
SCN11A:341:N:T	SCN11A	341	N	T	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:381:I:T	SCN11A	381	I	T	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3	NA	unknown	clinvar	unknown	Pathogenic	8.131e-06	1	Episodic pain syndrome, familial, 3	unknown	NA	NA	0	0	VariationID_157600
SCN11A:381:I:T	SCN11A	381	I	T	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Painful peripheral neuropathy	NA	unknown	hgmd	unknown	DM	8.131e-06	2	Painful peripheral neuropathy	unknown	NA	NA	0	0	24776970
SCN11A:396:L:P	SCN11A	396	L	P	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Neuropathy, hereditary sensory and autonomic, type VII;not provided	NA	unknown	clinvar	unknown	Pathogenic	0	3	Neuropathy, hereditary sensory and autonomic, type VII;not provided	unknown	NA	NA	0	0	VariationID_426113
SCN11A:419:K:N	SCN11A	419	K	N	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Painful peripheral neuropathy	NA	unknown	hgmd	unknown	DM	0.0006058	1	Painful peripheral neuropathy	unknown	NA	NA	0	0	24776970
SCN11A:419:K:N	SCN11A	419	K	N	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0006058	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:481:G:E	SCN11A	481	G	E	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Benign	0.03204	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474687
SCN11A:500:R:Q	SCN11A	500	R	Q	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	2.442e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474688
SCN11A:533:M:I	SCN11A	533	M	I	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	6.506e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474691
SCN11A:542:P:T	SCN11A	542	P	T	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	2.873e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474692
SCN11A:562:Q:R	SCN11A	562	Q	R	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	4.112e-06	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474693
SCN11A:573:V:M	SCN11A	573	V	M	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	unknown	NA	NA	0	0	VariationID_422331
SCN11A:577:P:L	SCN11A	577	P	L	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII;not provided	NA	unknown	clinvar	unknown	Uncertain significance	0.0001707	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII;not provided	unknown	NA	NA	0	0	VariationID_425292
SCN11A:582:A:T	SCN11A	582	A	T	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Painful peripheral neuropathy	NA	unknown	hgmd	unknown	DM	0.0001585	1	Painful peripheral neuropathy	unknown	NA	NA	0	0	24776970
SCN11A:582:A:T	SCN11A	582	A	T	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001585	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:589:I:V	SCN11A	589	I	V	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.13e-06	2	not specified	unknown	NA	NA	0	0	VariationID_423416
SCN11A:617:T:A	SCN11A	617	T	A	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:621:I:M	SCN11A	621	I	M	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.135e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:635:H:R	SCN11A	635	H	R	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474697
SCN11A:643:I:T	SCN11A	643	I	T	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:643:I:V	SCN11A	643	I	V	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	2.845e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474698
SCN11A:650:L:F	SCN11A	650	L	F	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001951	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:681:A:D	SCN11A	681	A	D	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Painful peripheral neuropathy	NA	unknown	hgmd	unknown	DM	0	1	Painful peripheral neuropathy	unknown	NA	NA	0	0	24776970
SCN11A:699:G:R	SCN11A	699	G	R	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Painful peripheral neuropathy	NA	unknown	hgmd	unknown	DM	0.0001792	2	Painful peripheral neuropathy	unknown	NA	NA	0	0	25791876
SCN11A:734:K:R	SCN11A	734	K	R	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Benign	0.001683	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474700
SCN11A:738:P:L	SCN11A	738	P	L	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Likely benign	0.0003497	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474701
SCN11A:767:G:R	SCN11A	767	G	R	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	3.25e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474704
SCN11A:773:M:T	SCN11A	773	M	T	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474705
SCN11A:795:T:M	SCN11A	795	T	M	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	3.054e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474706
SCN11A:808:A:G	SCN11A	808	A	G	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3	NA	unknown	clinvar	unknown	Pathogenic	0	1	Episodic pain syndrome, familial, 3	unknown	NA	NA	0	0	VariationID_89013
SCN11A:808:A:G	SCN11A	808	A	G	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome	NA	unknown	hgmd	unknown	DM	0	2	Episodic pain syndrome	unknown	NA	NA	0	0	24207120
SCN11A:811:L:P	SCN11A	811	L	P	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Pathogenic	0	1	Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_89011
SCN11A:811:L:P	SCN11A	811	L	P	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Congenital indifference to pain	NA	unknown	hgmd	unknown	DM	0	2	Congenital indifference to pain	unknown	NA	NA	0	0	24036948,28530638,25118027
SCN11A:842:A:P	SCN11A	842	A	P	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Painful peripheral neuropathy	NA	unknown	hgmd	unknown	DM	0	1	Painful peripheral neuropathy	unknown	NA	NA	0	0	24776970
SCN11A:844:C:R	SCN11A	844	C	R	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	2.032e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474707
SCN11A:898:G:D	SCN11A	898	G	D	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474710
SCN11A:909:V:I	SCN11A	909	V	I	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	not specified	NA	unknown	clinvar	unknown	Benign	0.2217	2	not specified	unknown	NA	NA	0	0	VariationID_260335
SCN11A:920:A:V	SCN11A	920	A	V	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	6.502e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474711
SCN11A:961:V:F	SCN11A	961	V	F	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Likely benign	1.219e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474713
SCN11A:982:R:Q	SCN11A	982	R	Q	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	2.849e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474714
SCN11A:998:D:G	SCN11A	998	D	G	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	2.032e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474715
SCN11A:998:D:G	SCN11A	998	D	G	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.032e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:1014:Q:H	SCN11A	1014	Q	H	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474716
SCN11A:1017:R:G	SCN11A	1017	R	G	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:1044:N:K	SCN11A	1044	N	K	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Benign	0.001126	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474718
SCN11A:1156:R:H	SCN11A	1156	R	H	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.443e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:1158:L:P	SCN11A	1158	L	P	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0004399	0	Episodic pain syndrome, familial, 3;not specified	unknown	NA	NA	0	0	VariationID_157599
SCN11A:1158:L:P	SCN11A	1158	L	P	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Painful peripheral neuropathy	NA	unknown	hgmd	unknown	DM	0.0004399	2	Painful peripheral neuropathy	unknown	NA	NA	0	0	24776970
SCN11A:1162:E:G	SCN11A	1162	E	G	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.854e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:1162:E:K	SCN11A	1162	E	K	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:1169:N:S	SCN11A	1169	N	S	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Likely benign	0.0003437	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474720
SCN11A:1169:N:S	SCN11A	1169	N	S	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Erythromelalgia-like pain	NA	unknown	hgmd	unknown	DM	0.0003437	2	Erythromelalgia-like pain	unknown	NA	NA	0	0	27781142
SCN11A:1184:V:A	SCN11A	1184	V	A	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Cold-aggravated peripheral pain	NA	unknown	hgmd	unknown	DM	0	2	Cold-aggravated peripheral pain	unknown	NA	NA	0	0	26645915
SCN11A:1230:N:D	SCN11A	1230	N	D	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:1242:N:D	SCN11A	1242	N	D	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	8.198e-06	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474722
SCN11A:1293:I:V	SCN11A	1293	I	V	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	2.033e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474724
SCN11A:1293:I:V	SCN11A	1293	I	V	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Erythromelalgia-like pain	NA	unknown	hgmd	unknown	DM	2.033e-05	2	Erythromelalgia-like pain	unknown	NA	NA	0	0	27781142
SCN11A:1302:L:F	SCN11A	1302	L	F	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Pathogenic	0	1	Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_504488
SCN11A:1302:L:F	SCN11A	1302	L	F	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Congenital indifference to pain	NA	unknown	hgmd	unknown	DM	0	2	Congenital indifference to pain	unknown	NA	NA	0	0	26746779,28530638,28530638
SCN11A:1320:G:S	SCN11A	1320	G	S	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001592	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:1369:D:A	SCN11A	1369	D	A	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	ASD_noE	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	0	2	ASD_noE	unknown	NA	NA	0	0	29942082
SCN11A:1428:G:S	SCN11A	1428	G	S	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002036	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:1478:R:Q	SCN11A	1478	R	Q	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	4.073e-06	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474729
SCN11A:1535:K:R	SCN11A	1535	K	R	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474730
SCN11A:1547:I:T	SCN11A	1547	I	T	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.881e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:1552:G:D	SCN11A	1552	G	D	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_418474
SCN11A:1562:R:Q	SCN11A	1562	R	Q	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.884e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:1609:T:I	SCN11A	1609	T	I	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Benign	0.03663	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474735
SCN11A:1627:Y:H	SCN11A	1627	Y	H	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	9.356e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474736
SCN11A:1660:A:T	SCN11A	1660	A	T	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.442e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:1671:D:N	SCN11A	1671	D	N	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.14e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:1688:A:V	SCN11A	1688	A	V	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	3.664e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474742
SCN11A:1689:F:L	SCN11A	1689	F	L	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	0.0002361	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474743
SCN11A:1689:F:L	SCN11A	1689	F	L	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Painful peripheral neuropathy	NA	unknown	hgmd	unknown	DM	0.0002361	1	Painful peripheral neuropathy	unknown	NA	NA	0	0	24776970
SCN11A:1696:G:S	SCN11A	1696	G	S	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.256e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:1736:G:S	SCN11A	1736	G	S	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.061e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:1736:G:V	SCN11A	1736	G	V	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Likely benign	0.001641	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474745
SCN11A:1736:G:V	SCN11A	1736	G	V	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001641	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN11A:1787:K:E	SCN11A	1787	K	E	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	NA	unknown	clinvar	unknown	Uncertain significance	7.325e-05	2	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	unknown	NA	NA	0	0	VariationID_474749
SCN11A:1787:K:E	SCN11A	1787	K	E	ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	7.325e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:2:E:D	SCN1A	2	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_193184
SCN1A:6:L:P	SCN1A	6	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28202706
SCN1A:19:R:G	SCN1A	19	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.062e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206940
SCN1A:19:R:K	SCN1A	19	R	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461283
SCN1A:23:A:E	SCN1A	23	A	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.063e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206800
SCN1A:23:A:E	SCN1A	23	A	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	4.063e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:23:A:V	SCN1A	23	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Benign/Likely benign	0.0003575	3	Early infantile epileptic encephalopathy;not specified	unknown	NA	NA	0	0	VariationID_206801
SCN1A:23:A:V	SCN1A	23	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.0003575	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:24:A:T	SCN1A	24	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_190023
SCN1A:24:A:T	SCN1A	24	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:27:R:T	SCN1A	27	R	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	9.345e-05	0	Generalized epilepsy with febrile seizures plus, type 1;not provided;not specified	unknown	NA	NA	0	0	VariationID_68582
SCN1A:27:R:T	SCN1A	27	R	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	9.345e-05	1	Generalized epilepsy with febrile seizures plus	unknown	NA	NA	0	0	20729507,21719429,26990884
SCN1A:27:R:T	SCN1A	27	R	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	9.345e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:28:R:C	SCN1A	28	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	unknown	Pathogenic	3.251e-05	2	not provided	unknown	NA	NA	0	0	VariationID_206802
SCN1A:28:R:C	SCN1A	28	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	3.251e-05	2	Generalized epilepsy with febrile seizures plus	unknown	NA	NA	0	0	18804930,26990884
SCN1A:28:R:H	SCN1A	28	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.126e-06	2	not specified	unknown	NA	NA	0	0	VariationID_93664
SCN1A:33:K:N	SCN1A	33	K	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28202706
SCN1A:45:D:N	SCN1A	45	D	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy	NA	unknown	hgmd	unknown	DM	8.123e-06	1	Epilepsy	unknown	NA	NA	0	0	21248271,23708187
SCN1A:46:E:K	SCN1A	46	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.249e-05	2	not specified	unknown	NA	NA	0	0	VariationID_448247
SCN1A:58:G:R	SCN1A	58	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy	maf_pathogenic	NA	NA	0	1	24848745
SCN1A:58:G:V	SCN1A	58	G	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:61:L:F	SCN1A	61	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999,28074849
SCN1A:61:L:P	SCN1A	61	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome	maf_pathogenic	NA	NA	0	0	26863999,26716362,26716362
SCN1A:63:F:L	SCN1A	63	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68513
SCN1A:63:F:L	SCN1A	63	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	20729507
SCN1A:68:I:S	SCN1A	68	I	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206942
SCN1A:68:I:T	SCN1A	68	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome B	NA	lof	hgmd	unknown	DM	8.122e-06	1	Dravet syndrome B	unknown	NA	NA	0	0	21248271
SCN1A:68:I:T	SCN1A	68	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	8.122e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:72:M:T	SCN1A	72	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:73:V:L	SCN1A	73	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:74:S:P	SCN1A	74	S	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1	NA	unknown	clinvar	unknown	not provided	0	1	Generalized epilepsy with febrile seizures plus, type 1	maf_pathogenic	NA	NA	0	0	VariationID_68514
SCN1A:74:S:P	SCN1A	74	S	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17561957
SCN1A:75:E:D	SCN1A	75	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28387369
SCN1A:76:P:S	SCN1A	76	P	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:76:P:T	SCN1A	76	P	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:78:E:D	SCN1A	78	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68516
SCN1A:78:E:D	SCN1A	78	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12821740
SCN1A:79:D:H	SCN1A	79	D	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68517
SCN1A:79:D:H	SCN1A	79	D	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:79:D:N	SCN1A	79	D	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_379355
SCN1A:79:D:N	SCN1A	79	D	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:81:D:E	SCN1A	81	D	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206831
SCN1A:81:D:E	SCN1A	81	D	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26169758
SCN1A:81:D:N	SCN1A	81	D	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	27236449
SCN1A:84:Y:C	SCN1A	84	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68520
SCN1A:84:Y:C	SCN1A	84	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:86:N:S	SCN1A	86	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	8.131e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:90:F:S	SCN1A	90	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68596
SCN1A:90:F:S	SCN1A	90	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	18554359,23195492
SCN1A:91:I:T	SCN1A	91	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68597
SCN1A:91:I:T	SCN1A	91	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	18554359,24168886
SCN1A:93:L:S	SCN1A	93	L	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	25459968
SCN1A:94:N:K	SCN1A	94	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:98:A:P	SCN1A	98	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:101:R:L	SCN1A	101	R	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_448251
SCN1A:101:R:Q	SCN1A	101	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:101:R:Q	SCN1A	101	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Early infantile epileptic encephalopathy;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68528
SCN1A:101:R:Q	SCN1A	101	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	14738421,23808377,25885068,24328833,23195492,23158734
SCN1A:101:R:Q	SCN1A	101	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:101:R:W	SCN1A	101	R	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Early infantile epileptic encephalopathy;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68527
SCN1A:101:R:W	SCN1A	101	R	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258,27113213,27236449
SCN1A:101:R:W	SCN1A	101	R	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:103:S:G	SCN1A	103	S	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68614
SCN1A:103:S:G	SCN1A	103	S	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275
SCN1A:103:S:I	SCN1A	103	S	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189899
SCN1A:103:S:I	SCN1A	103	S	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:104:A:V	SCN1A	104	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome	maf_pathogenic	NA	NA	0	0	22848613,28084635,28074849
SCN1A:105:T:I	SCN1A	105	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206927
SCN1A:105:T:I	SCN1A	105	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:105:T:I	SCN1A	105	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:106:S:F	SCN1A	106	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24902755
SCN1A:107:A:D	SCN1A	107	A	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:107:A:V	SCN1A	107	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:108:L:P	SCN1A	108	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189956
SCN1A:108:L:P	SCN1A	108	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:108:L:R	SCN1A	108	L	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy	NA	unknown	hgmd	unknown	DM	0	1	Epilepsy	maf_pathogenic	NA	NA	0	0	21426328
SCN1A:112:T:I	SCN1A	112	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68615
SCN1A:112:T:I	SCN1A	112	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275
SCN1A:112:T:I	SCN1A	112	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:113:P:R	SCN1A	113	P	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_495268
SCN1A:113:P:T	SCN1A	113	P	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_189862
SCN1A:113:P:T	SCN1A	113	P	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:117:L:F	SCN1A	117	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:117:L:P	SCN1A	117	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_423370
SCN1A:118:R:S	SCN1A	118	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68529
SCN1A:118:R:S	SCN1A	118	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_280476
SCN1A:118:R:S	SCN1A	118	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	18413471
SCN1A:122:I:M	SCN1A	122	I	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_432616
SCN1A:124:I:N	SCN1A	124	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68620
SCN1A:124:I:N	SCN1A	124	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999,20522430
SCN1A:127:H:D	SCN1A	127	H	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	7.33e-05	3	Early infantile epileptic encephalopathy;not specified	unknown	NA	NA	0	0	VariationID_195131
SCN1A:127:H:D	SCN1A	127	H	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome B	NA	lof	hgmd	unknown	DM	7.33e-05	1	Dravet syndrome B	unknown	NA	NA	0	0	21248271,28202706
SCN1A:127:H:D	SCN1A	127	H	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	7.33e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:127:H:L	SCN1A	127	H	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_190002
SCN1A:127:H:L	SCN1A	127	H	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:127:H:Y	SCN1A	127	H	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	27465585
SCN1A:131:S:R	SCN1A	131	S	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intellectual disability%2C ataxia%2C stroke-like episodes & seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intellectual disability%2C ataxia%2C stroke-like episodes & seizures	maf_pathogenic	NA	NA	0	1	27113213
SCN1A:133:L:Q	SCN1A	133	L	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_429536
SCN1A:138:I:S	SCN1A	138	I	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_449901
SCN1A:138:I:T	SCN1A	138	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	23808377
SCN1A:140:T:A	SCN1A	140	T	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206738
SCN1A:140:T:R	SCN1A	140	T	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:145:M:K	SCN1A	145	M	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206739
SCN1A:145:M:T	SCN1A	145	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 2;not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Generalized epilepsy with febrile seizures plus, type 2;not provided	maf_pathogenic	NA	NA	0	1	VariationID_12896
SCN1A:145:M:T	SCN1A	145	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Febrile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Febrile seizures	maf_pathogenic	NA	NA	0	1	16326807,28717674,17565594,25525159
SCN1A:145:M:V	SCN1A	145	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_190024
SCN1A:145:M:V	SCN1A	145	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:158:E:Q	SCN1A	158	E	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206928
SCN1A:162:T:I	SCN1A	162	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:162:T:I	SCN1A	162	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:162:T:P	SCN1A	162	T	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68555
SCN1A:162:T:P	SCN1A	162	T	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684,25525159
SCN1A:163:G:E	SCN1A	163	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	segr_w_disease	lof	Heyneetal_GiM19_DNV	unknown	unknown	NA	NA	NA	NA	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:163:G:E	SCN1A	163	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18076640
SCN1A:163:G:E	SCN1A	163	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:164:I:K	SCN1A	164	I	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:165:Y:H	SCN1A	165	Y	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_495270
SCN1A:166:T:I	SCN1A	166	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:167:F:S	SCN1A	167	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:168:E:D	SCN1A	168	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:169:S:P	SCN1A	169	S	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_206740
SCN1A:170:L:P	SCN1A	170	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_418590
SCN1A:170:L:P	SCN1A	170	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:170:L:R	SCN1A	170	L	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:171:I:K	SCN1A	171	I	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68652
SCN1A:171:I:K	SCN1A	171	I	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:171:I:R	SCN1A	171	I	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:175:A:T	SCN1A	175	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68656
SCN1A:175:A:T	SCN1A	175	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:175:A:V	SCN1A	175	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:177:G:E	SCN1A	177	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68658
SCN1A:177:G:E	SCN1A	177	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12821740,17054685,27236449
SCN1A:177:G:R	SCN1A	177	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18076640,25525159
SCN1A:177:G:V	SCN1A	177	G	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189904
SCN1A:177:G:V	SCN1A	177	G	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26252084,28202706
SCN1A:178:F:S	SCN1A	178	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intractable epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intractable epilepsy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:179:C:R	SCN1A	179	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:181:E:G	SCN1A	181	E	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:182:D:H	SCN1A	182	D	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:187:R:Q	SCN1A	187	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.075e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_383462
SCN1A:187:R:W	SCN1A	187	R	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_453000
SCN1A:188:D:V	SCN1A	188	D	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus, type 2	NA	unknown	clinvar	unknown	Pathogenic	0	1	Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus, type 2	maf_pathogenic	NA	NA	0	0	VariationID_12884
SCN1A:188:D:V	SCN1A	188	D	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	11254444,28717674,12576172,22780858
SCN1A:189:P:A	SCN1A	189	P	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Familial hemiplegic migraine;Seizure Disorders	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Familial hemiplegic migraine;Seizure Disorders	maf_pathogenic	NA	NA	0	0	VariationID_331894
SCN1A:190:W:R	SCN1A	190	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68668
SCN1A:190:W:R	SCN1A	190	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	14738421,24168886
SCN1A:191:N:K	SCN1A	191	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:191:N:T	SCN1A	191	N	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:191:N:Y	SCN1A	191	N	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68670
SCN1A:191:N:Y	SCN1A	191	N	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999,20522430
SCN1A:193:L:F	SCN1A	193	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	21843600
SCN1A:194:D:A	SCN1A	194	D	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	25459968
SCN1A:194:D:G	SCN1A	194	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:194:D:H	SCN1A	194	D	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:194:D:N	SCN1A	194	D	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68575
SCN1A:194:D:N	SCN1A	194	D	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684,20562086
SCN1A:194:D:Y	SCN1A	194	D	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461284
SCN1A:199:T:I	SCN1A	199	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_430305
SCN1A:199:T:R	SCN1A	199	T	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68576
SCN1A:199:T:R	SCN1A	199	T	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:201:A:E	SCN1A	201	A	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28079314
SCN1A:203:V:I	SCN1A	203	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	2.043e-05	0	Early infantile epileptic encephalopathy;not provided	unknown	NA	NA	0	0	VariationID_426348
SCN1A:203:V:I	SCN1A	203	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	2.043e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:207:V:G	SCN1A	207	V	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early infantile	maf_pathogenic	NA	NA	0	1	27241786
SCN1A:210:G:D	SCN1A	210	G	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:211:N:S	SCN1A	211	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_431844
SCN1A:212:V:A	SCN1A	212	V	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	4.076e-06	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18076640
SCN1A:213:S:W	SCN1A	213	S	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_197720
SCN1A:217:T:K	SCN1A	217	T	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68577
SCN1A:217:T:K	SCN1A	217	T	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684
SCN1A:218:F:L	SCN1A	218	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus 2	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus 2	maf_pathogenic	NA	NA	0	1	19339291,21719429
SCN1A:219:R:G	SCN1A	219	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	27236449
SCN1A:219:R:S	SCN1A	219	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_378898
SCN1A:219:R:S	SCN1A	219	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_167648
SCN1A:219:R:T	SCN1A	219	R	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206744
SCN1A:220:V:D	SCN1A	220	V	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Malignant migrating partial seizures in infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Malignant migrating partial seizures in infancy	maf_pathogenic	NA	NA	0	1	26544041
SCN1A:221:L:P	SCN1A	221	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206745
SCN1A:221:L:V	SCN1A	221	L	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_265297
SCN1A:223:A:E	SCN1A	223	A	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:223:A:P	SCN1A	223	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_444534
SCN1A:224:L:S	SCN1A	224	L	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206929
SCN1A:225:K:N	SCN1A	225	K	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_189871
SCN1A:225:K:N	SCN1A	225	K	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:226:T:K	SCN1A	226	T	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	21719429
SCN1A:226:T:M	SCN1A	226	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Early infantile epileptic encephalopathy;Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68578
SCN1A:226:T:M	SCN1A	226	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258,23895530,25401298,28794249
SCN1A:226:T:M	SCN1A	226	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DD_E	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	1	1	29942082
SCN1A:226:T:M	SCN1A	226	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:226:T:R	SCN1A	226	T	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206930
SCN1A:226:T:R	SCN1A	226	T	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:227:I:S	SCN1A	227	I	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68579
SCN1A:227:I:S	SCN1A	227	I	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12821740,17054685,23195492
SCN1A:227:I:T	SCN1A	227	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:228:S:P	SCN1A	228	S	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_375512
SCN1A:228:S:P	SCN1A	228	S	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	27864847
SCN1A:232:G:S	SCN1A	232	G	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:233:L:R	SCN1A	233	L	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:235:T:S	SCN1A	235	T	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28202706
SCN1A:236:I:T	SCN1A	236	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_265308
SCN1A:239:A:T	SCN1A	239	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68580
SCN1A:239:A:T	SCN1A	239	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258,28202706,24168886
SCN1A:239:A:V	SCN1A	239	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68581
SCN1A:239:A:V	SCN1A	239	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	19303743
SCN1A:239:A:V	SCN1A	239	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	ID_E	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ID_E	maf_pathogenic	NA	NA	1	1	29942082
SCN1A:240:L:P	SCN1A	240	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Seizures	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Seizures	maf_pathogenic	NA	NA	0	1	VariationID_212120
SCN1A:240:L:P	SCN1A	240	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	21488289,23485646
SCN1A:240:L:Q	SCN1A	240	L	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:240:L:Q	SCN1A	240	L	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:243:S:F	SCN1A	243	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	25459968
SCN1A:243:S:Y	SCN1A	243	S	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189915
SCN1A:243:S:Y	SCN1A	243	S	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:244:V:A	SCN1A	244	V	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_432892
SCN1A:247:L:V	SCN1A	247	L	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206931
SCN1A:249:D:E	SCN1A	249	D	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189982
SCN1A:249:D:E	SCN1A	249	D	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome	maf_pathogenic	NA	NA	0	0	24679980
SCN1A:250:V:E	SCN1A	250	V	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_444533
SCN1A:250:V:I	SCN1A	250	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206746
SCN1A:250:V:I	SCN1A	250	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Abnormality of the nervous system	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Abnormality of the nervous system	maf_pathogenic	NA	NA	0	1	26633542
SCN1A:251:M:I	SCN1A	251	M	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:251:M:I	SCN1A	251	M	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:252:I:M	SCN1A	252	I	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intractable epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intractable epilepsy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:252:I:N	SCN1A	252	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68672
SCN1A:252:I:N	SCN1A	252	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	15087100
SCN1A:252:I:T	SCN1A	252	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_408928
SCN1A:254:T:I	SCN1A	254	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Febrile seizures plus	maf_pathogenic	NA	NA	0	1	21248271
SCN1A:257:C:R	SCN1A	257	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_189934
SCN1A:257:C:R	SCN1A	257	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:259:S:R	SCN1A	259	S	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68673
SCN1A:259:S:R	SCN1A	259	S	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	20431604,23195492
SCN1A:263:L:V	SCN1A	263	L	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Hemiplegic migraine and epilepsy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine and epilepsy	maf_pathogenic	NA	NA	1	1	19220312,24646837,18621678
SCN1A:264:I:T	SCN1A	264	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	1.63e-05	0	not provided;not specified	unknown	NA	NA	0	0	VariationID_206748
SCN1A:265:G:W	SCN1A	265	G	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68674
SCN1A:265:G:W	SCN1A	265	G	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275
SCN1A:267:Q:P	SCN1A	267	Q	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_450061
SCN1A:271:G:R	SCN1A	271	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:273:L:P	SCN1A	273	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_427002
SCN1A:276:K:I	SCN1A	276	K	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206749
SCN1A:276:K:Q	SCN1A	276	K	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_190021
SCN1A:276:K:Q	SCN1A	276	K	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:277:C:G	SCN1A	277	C	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	20487708
SCN1A:277:C:R	SCN1A	277	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:280:W:C	SCN1A	280	W	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	18639757
SCN1A:280:W:R	SCN1A	280	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68583
SCN1A:280:W:R	SCN1A	280	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12821740,24168886
SCN1A:280:W:R	SCN1A	280	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:281:P:A	SCN1A	281	P	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:281:P:L	SCN1A	281	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206750
SCN1A:281:P:L	SCN1A	281	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:281:P:S	SCN1A	281	P	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:281:P:S	SCN1A	281	P	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:281:P:T	SCN1A	281	P	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Inborn genetic diseases	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	1	VariationID_521548
SCN1A:285:A:S	SCN1A	285	A	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	8.149e-06	2	Early infantile epileptic encephalopathy	unknown	NA	NA	0	0	VariationID_408932
SCN1A:285:A:V	SCN1A	285	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.667e-05	2	not specified	unknown	NA	NA	0	0	VariationID_198125
SCN1A:288:E:Q	SCN1A	288	E	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206752
SCN1A:289:E:V	SCN1A	289	E	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	22612257
SCN1A:290:H:R	SCN1A	290	H	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intractable epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intractable epilepsy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:291:S:G	SCN1A	291	S	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	0	1	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:292:I:T	SCN1A	292	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	1.223e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:292:I:V	SCN1A	292	I	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	8.154e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:297:T:I	SCN1A	297	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	1.224e-05	1	Severe myoclonic epilepsy in infancy	unknown	NA	NA	0	0	VariationID_68675
SCN1A:297:T:I	SCN1A	297	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	unknown	DM	1.224e-05	1	Myoclonic epilepsy of infancy	unknown	NA	NA	0	0	12821740,28951233,23527921
SCN1A:309:V:D	SCN1A	309	V	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	4.091e-06	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_408933
SCN1A:312:F:C	SCN1A	312	F	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_290405
SCN1A:312:F:S	SCN1A	312	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:314:W:G	SCN1A	314	W	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	0	1	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	0	26802095
SCN1A:314:W:R	SCN1A	314	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic-astatic epilepsy	NA	unknown	hgmd	unknown	DM	0	1	Myoclonic-astatic epilepsy	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:317:Y:C	SCN1A	317	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:317:Y:H	SCN1A	317	Y	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	25459968
SCN1A:320:D:V	SCN1A	320	D	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206753
SCN1A:322:R:I	SCN1A	322	R	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68584
SCN1A:322:R:I	SCN1A	322	R	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17561957
SCN1A:322:R:I	SCN1A	322	R	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:324:H:N	SCN1A	324	H	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:324:H:R	SCN1A	324	H	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206932
SCN1A:325:Y:C	SCN1A	325	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23821540
SCN1A:328:E:D	SCN1A	328	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206754
SCN1A:328:E:V	SCN1A	328	E	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	1.223e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:329:G:A	SCN1A	329	G	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28084635
SCN1A:329:G:C	SCN1A	329	G	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206933
SCN1A:329:G:V	SCN1A	329	G	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206755
SCN1A:331:L:F	SCN1A	331	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_392504
SCN1A:332:D:G	SCN1A	332	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206756
SCN1A:334:L:V	SCN1A	334	L	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0003467	0	Early infantile epileptic encephalopathy;Familial hemiplegic migraine;Seizure Disorders;not specified	unknown	NA	NA	0	0	VariationID_206934
SCN1A:334:L:V	SCN1A	334	L	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.0003467	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:336:C:G	SCN1A	336	C	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_93624
SCN1A:336:C:W	SCN1A	336	C	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461241
SCN1A:336:C:Y	SCN1A	336	C	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189962
SCN1A:336:C:Y	SCN1A	336	C	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:337:G:E	SCN1A	337	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:340:S:F	SCN1A	340	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:342:A:E	SCN1A	342	A	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_279592
SCN1A:342:A:S	SCN1A	342	A	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_190017
SCN1A:342:A:S	SCN1A	342	A	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:342:A:V	SCN1A	342	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189960
SCN1A:342:A:V	SCN1A	342	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271,24168886
SCN1A:343:G:C	SCN1A	343	G	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:343:G:D	SCN1A	343	G	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68585
SCN1A:343:G:D	SCN1A	343	G	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275
SCN1A:343:G:R	SCN1A	343	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:343:G:R	SCN1A	343	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:343:G:S	SCN1A	343	G	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_432714
SCN1A:345:C:F	SCN1A	345	C	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_373136
SCN1A:345:C:R	SCN1A	345	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189945
SCN1A:345:C:R	SCN1A	345	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:345:C:W	SCN1A	345	C	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:345:C:Y	SCN1A	345	C	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	unknown	DM	0	1	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	0	22140375
SCN1A:346:P:Q	SCN1A	346	P	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:349:Y:C	SCN1A	349	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:349:Y:C	SCN1A	349	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_190018
SCN1A:349:Y:C	SCN1A	349	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:349:Y:C	SCN1A	349	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:350:M:T	SCN1A	350	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:350:M:V	SCN1A	350	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189931
SCN1A:350:M:V	SCN1A	350	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:351:C:R	SCN1A	351	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26169758
SCN1A:355:G:D	SCN1A	355	G	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:356:R:G	SCN1A	356	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68499
SCN1A:356:R:G	SCN1A	356	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17561957
SCN1A:357:N:I	SCN1A	357	N	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:357:N:Y	SCN1A	357	N	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_393038
SCN1A:358:P:S	SCN1A	358	P	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189872
SCN1A:358:P:S	SCN1A	358	P	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:358:P:T	SCN1A	358	P	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68500
SCN1A:358:P:T	SCN1A	358	P	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17561957
SCN1A:359:N:I	SCN1A	359	N	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206757
SCN1A:359:N:I	SCN1A	359	N	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	23808377
SCN1A:359:N:S	SCN1A	359	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not specified	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Severe myoclonic epilepsy in infancy;not specified	maf_pathogenic	NA	NA	0	0	VariationID_189864
SCN1A:359:N:S	SCN1A	359	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271,24168886
SCN1A:359:N:T	SCN1A	359	N	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	23708187
SCN1A:361:G:D	SCN1A	361	G	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448245
SCN1A:363:T:P	SCN1A	363	T	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_429575
SCN1A:363:T:P	SCN1A	363	T	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:363:T:R	SCN1A	363	T	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271,24679980
SCN1A:364:S:I	SCN1A	364	S	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_499554
SCN1A:364:S:R	SCN1A	364	S	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_372950
SCN1A:365:F:S	SCN1A	365	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Abnormality of the mitochondrion	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Abnormality of the mitochondrion	maf_pathogenic	NA	NA	0	1	26633542
SCN1A:366:D:E	SCN1A	366	D	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68501
SCN1A:366:D:E	SCN1A	366	D	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	18413471
SCN1A:366:D:H	SCN1A	366	D	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_390594
SCN1A:371:A:V	SCN1A	371	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206759
SCN1A:374:S:Y	SCN1A	374	S	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	27465585
SCN1A:377:R:L	SCN1A	377	R	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18076640
SCN1A:377:R:Q	SCN1A	377	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1;Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	4.069e-06	3	Generalized epilepsy with febrile seizures plus, type 1;Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68502
SCN1A:377:R:Q	SCN1A	377	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	4.069e-06	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	18413471,28202706,26096185
SCN1A:378:L:P	SCN1A	378	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:378:L:Q	SCN1A	378	L	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:379:M:K	SCN1A	379	M	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189888
SCN1A:379:M:K	SCN1A	379	M	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:379:M:R	SCN1A	379	M	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	22612257
SCN1A:382:D:E	SCN1A	382	D	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189913
SCN1A:382:D:E	SCN1A	382	D	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:382:D:N	SCN1A	382	D	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy	NA	unknown	hgmd	unknown	DM	0	1	Epilepsy	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:383:F:L	SCN1A	383	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68503
SCN1A:383:F:L	SCN1A	383	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684
SCN1A:384:W:R	SCN1A	384	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_390676
SCN1A:384:W:R	SCN1A	384	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271,23195492
SCN1A:385:E:G	SCN1A	385	E	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	22071555
SCN1A:385:E:V	SCN1A	385	E	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26169758
SCN1A:386:N:Y	SCN1A	386	N	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome	maf_pathogenic	NA	NA	0	0	26438699
SCN1A:388:Y:H	SCN1A	388	Y	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1;not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Generalized epilepsy with febrile seizures plus, type 1;not provided	maf_pathogenic	NA	NA	0	1	VariationID_68586
SCN1A:388:Y:H	SCN1A	388	Y	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	19464195,28717674
SCN1A:391:T:P	SCN1A	391	T	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	21844054
SCN1A:392:L:F	SCN1A	392	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:393:R:C	SCN1A	393	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Early infantile epileptic encephalopathy;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68505
SCN1A:393:R:C	SCN1A	393	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684,23934111,21868258
SCN1A:393:R:C	SCN1A	393	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	EE_E	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	1	1	29942082
SCN1A:393:R:C	SCN1A	393	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:393:R:H	SCN1A	393	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68506
SCN1A:393:R:H	SCN1A	393	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12754708,28544625,17054685,22780858,23195492
SCN1A:393:R:H	SCN1A	393	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:393:R:L	SCN1A	393	R	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:393:R:S	SCN1A	393	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68504
SCN1A:393:R:S	SCN1A	393	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684
SCN1A:394:A:D	SCN1A	394	A	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28084635
SCN1A:395:A:P	SCN1A	395	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy	NA	unknown	clinvar	unknown	not provided	0	1	Generalized epilepsy	maf_pathogenic	NA	NA	0	0	VariationID_68507
SCN1A:395:A:P	SCN1A	395	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Cryptogenic generalised epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cryptogenic generalised epilepsy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:396:G:E	SCN1A	396	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	21868258
SCN1A:398:T:M	SCN1A	398	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.221e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206762
SCN1A:399:Y:D	SCN1A	399	Y	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206763
SCN1A:399:Y:F	SCN1A	399	Y	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28262406
SCN1A:400:M:K	SCN1A	400	M	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189880
SCN1A:400:M:K	SCN1A	400	M	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:400:M:V	SCN1A	400	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271,25795284
SCN1A:401:I:V	SCN1A	401	I	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:402:F:L	SCN1A	402	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206935
SCN1A:403:F:L	SCN1A	403	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68508
SCN1A:403:F:L	SCN1A	403	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:403:F:V	SCN1A	403	F	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:406:V:F	SCN1A	406	V	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not specified	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Severe myoclonic epilepsy in infancy;not specified	maf_pathogenic	NA	NA	0	0	VariationID_68587
SCN1A:406:V:F	SCN1A	406	V	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	19589774
SCN1A:407:I:T	SCN1A	407	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	8.129e-06	0	not provided;not specified	unknown	NA	NA	0	0	VariationID_93629
SCN1A:407:I:T	SCN1A	407	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	8.129e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:408:F:L	SCN1A	408	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy%2C idiopathic	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy%2C idiopathic	maf_pathogenic	NA	NA	0	1	21703448
SCN1A:409:L:W	SCN1A	409	L	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:412:F:I	SCN1A	412	F	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	20682179
SCN1A:413:Y:N	SCN1A	413	Y	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68509
SCN1A:413:Y:N	SCN1A	413	Y	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258,23895530
SCN1A:420:A:D	SCN1A	420	A	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_283002
SCN1A:420:A:V	SCN1A	420	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189996
SCN1A:420:A:V	SCN1A	420	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	22944210,26096185
SCN1A:421:V:A	SCN1A	421	V	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206764
SCN1A:421:V:M	SCN1A	421	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_372865
SCN1A:421:V:M	SCN1A	421	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	27848944
SCN1A:422:V:A	SCN1A	422	V	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189920
SCN1A:422:V:A	SCN1A	422	V	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:422:V:E	SCN1A	422	V	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy	NA	unknown	clinvar	unknown	not provided	0	1	Generalized epilepsy	maf_pathogenic	NA	NA	0	0	VariationID_68510
SCN1A:422:V:E	SCN1A	422	V	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Cryptogenic generalised epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cryptogenic generalised epilepsy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:422:V:L	SCN1A	422	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C infantile	maf_pathogenic	NA	NA	0	1	24776920
SCN1A:422:V:M	SCN1A	422	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_282973
SCN1A:422:V:M	SCN1A	422	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome	maf_pathogenic	NA	NA	0	0	22848613
SCN1A:426:Y:C	SCN1A	426	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:426:Y:C	SCN1A	426	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	3	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206761
SCN1A:426:Y:C	SCN1A	426	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999,23195492
SCN1A:426:Y:C	SCN1A	426	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:426:Y:N	SCN1A	426	Y	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68511
SCN1A:426:Y:N	SCN1A	426	Y	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12821740,26648591,17054685
SCN1A:427:E:K	SCN1A	427	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:432:A:S	SCN1A	432	A	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	27236449
SCN1A:447:M:V	SCN1A	447	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.22e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206765
SCN1A:448:I:T	SCN1A	448	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	5.694e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:454:Q:K	SCN1A	454	Q	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_498722
SCN1A:459:Q:R	SCN1A	459	Q	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome and generalised epilepsy with febrile seizures	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome and generalised epilepsy with febrile seizures	maf_pathogenic	NA	NA	1	1	27781031
SCN1A:467:S:T	SCN1A	467	S	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:476:A:S	SCN1A	476	A	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:477:G:R	SCN1A	477	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448248
SCN1A:493:S:R	SCN1A	493	S	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:495:K:N	SCN1A	495	K	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.000118	2	not specified	unknown	NA	NA	0	0	VariationID_206767
SCN1A:495:K:N	SCN1A	495	K	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.000118	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:495:K:R	SCN1A	495	K	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_93631
SCN1A:500:R:Q	SCN1A	500	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001179	2	not specified	unknown	NA	NA	0	0	VariationID_206768
SCN1A:500:R:W	SCN1A	500	R	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.134e-06	2	not specified	unknown	NA	NA	0	0	VariationID_418475
SCN1A:513:E:G	SCN1A	513	E	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461243
SCN1A:516:D:E	SCN1A	516	D	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_449679
SCN1A:525:S:F	SCN1A	525	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:528:S:C	SCN1A	528	S	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.25e-05	3	not specified	unknown	NA	NA	0	0	VariationID_206769
SCN1A:528:S:C	SCN1A	528	S	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	3.25e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:529:I:T	SCN1A	529	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_451470
SCN1A:535:R:C	SCN1A	535	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.438e-05	2	not specified	unknown	NA	NA	0	0	VariationID_426565
SCN1A:535:R:H	SCN1A	535	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not specified	NA	lof	clinvar	unknown	Uncertain significance	1.219e-05	3	Severe myoclonic epilepsy in infancy;not specified	unknown	NA	NA	0	0	VariationID_206770
SCN1A:541:N:S	SCN1A	541	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:542:R:Q	SCN1A	542	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.001679	0	Autistic disorder of childhood onset;Early infantile epileptic encephalopathy;Seizure disorder;Severe myoclonic epilepsy in infancy;not specified	unknown	NA	NA	0	0	VariationID_68588
SCN1A:542:R:Q	SCN1A	542	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Autism	NA	unknown	hgmd	unknown	DM	0.001679	1	Autism	unknown	NA	NA	0	0	12610651,28717674,28202706,11254445,26990884,19522081,27236449,23195492,26077850
SCN1A:542:R:Q	SCN1A	542	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.001679	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:545:Y:H	SCN1A	545	Y	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_421106
SCN1A:554:Q:H	SCN1A	554	Q	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_373008
SCN1A:554:Q:H	SCN1A	554	Q	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	23808377
SCN1A:554:Q:R	SCN1A	554	Q	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26339958
SCN1A:559:I:N	SCN1A	559	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:560:R:C	SCN1A	560	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.221e-05	2	not specified	unknown	NA	NA	0	0	VariationID_283885
SCN1A:566:P:S	SCN1A	566	P	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.135e-06	2	not specified	unknown	NA	NA	0	0	VariationID_291082
SCN1A:566:P:S	SCN1A	566	P	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	unknown	DM	8.135e-06	2	Dravet syndrome	unknown	NA	NA	0	0	27236449
SCN1A:568:R:Q	SCN1A	568	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.134e-06	2	not specified	unknown	NA	NA	0	0	VariationID_193841
SCN1A:568:R:Q	SCN1A	568	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	unknown	hgmd	unknown	DM	8.134e-06	2	Epileptic encephalopathy%2C early infantile	unknown	NA	NA	0	0	28387369
SCN1A:569:N:S	SCN1A	569	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.133e-06	2	not specified	unknown	NA	NA	0	0	VariationID_206772
SCN1A:570:S:I	SCN1A	570	S	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28202706
SCN1A:570:S:N	SCN1A	570	S	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	Uncertain significance	0	1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_374331
SCN1A:570:S:N	SCN1A	570	S	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	unknown	hgmd	unknown	DM	0	1	Epileptic encephalopathy%2C early onset	maf_pathogenic	NA	NA	0	0	27959697
SCN1A:573:S:R	SCN1A	573	S	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:580:R:G	SCN1A	580	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:580:R:Q	SCN1A	580	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	8.944e-05	0	Early infantile epileptic encephalopathy;Familial hemiplegic migraine type 3;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not specified	unknown	NA	NA	0	0	VariationID_167646
SCN1A:580:R:Q	SCN1A	580	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	8.944e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:587:E:K	SCN1A	587	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_392446
SCN1A:589:D:V	SCN1A	589	D	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_93634
SCN1A:597:T:N	SCN1A	597	T	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.438e-05	3	not specified	unknown	NA	NA	0	0	VariationID_206774
SCN1A:599:E:D	SCN1A	599	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_430464
SCN1A:604:R:C	SCN1A	604	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.438e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206775
SCN1A:604:R:H	SCN1A	604	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Benign/Likely benign	0.001479	3	Early infantile epileptic encephalopathy;Familial hemiplegic migraine;Seizure Disorders;Severe myoclonic epilepsy in infancy;not provided;not specified	unknown	NA	NA	0	0	VariationID_68589
SCN1A:604:R:H	SCN1A	604	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	0.001479	1	Generalized epilepsy with febrile seizures plus	unknown	NA	NA	0	0	19236456,26845707,11254445,26990884,23195492
SCN1A:604:R:H	SCN1A	604	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.001479	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:605:R:T	SCN1A	605	R	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.063e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206776
SCN1A:612:R:Q	SCN1A	612	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	8.125e-06	2	Early infantile epileptic encephalopathy	unknown	NA	NA	0	0	VariationID_408923
SCN1A:615:G:R	SCN1A	615	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:616:E:D	SCN1A	616	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	VariationID_375511
SCN1A:616:E:D	SCN1A	616	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy%2C drug-resistant	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy%2C drug-resistant	maf_pathogenic	NA	NA	0	1	27864847
SCN1A:618:R:C	SCN1A	618	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	4.063e-06	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_220200
SCN1A:618:R:C	SCN1A	618	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy with febrile seizures plus & Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	4.063e-06	2	Epilepsy with febrile seizures plus & Dravet syndrome	maf_pathogenic	NA	NA	1	1	25795284
SCN1A:618:R:C	SCN1A	618	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	4.063e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:618:R:H	SCN1A	618	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:626:S:G	SCN1A	626	S	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy;Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Generalized epilepsy;Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68512
SCN1A:626:S:G	SCN1A	626	S	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Cryptogenic generalised epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cryptogenic generalised epilepsy	maf_pathogenic	NA	NA	0	1	17347258,28079314,24168886
SCN1A:627:R:K	SCN1A	627	R	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28202706
SCN1A:628:S:T	SCN1A	628	S	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	1.219e-05	3	Early infantile epileptic encephalopathy;Familial hemiplegic migraine;Seizure Disorders;not specified	unknown	NA	NA	0	0	VariationID_206777
SCN1A:630:R:Q	SCN1A	630	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Familial hemiplegic migraine;Seizure Disorders;not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.063e-05	3	Familial hemiplegic migraine;Seizure Disorders;not specified	unknown	NA	NA	0	0	VariationID_193839
SCN1A:630:R:W	SCN1A	630	R	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	2.438e-05	1	Generalized epilepsy with febrile seizures plus	unknown	NA	NA	0	0	24679980
SCN1A:637:A:V	SCN1A	637	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461247
SCN1A:645:V:L	SCN1A	645	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	4.064e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:650:V:M	SCN1A	650	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	3	not specified	maf_pathogenic	NA	NA	0	0	VariationID_93636
SCN1A:657:P:L	SCN1A	657	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_190010
SCN1A:657:P:L	SCN1A	657	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:663:P:L	SCN1A	663	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.129e-06	2	not specified	unknown	NA	NA	0	0	VariationID_392868
SCN1A:674:D:G	SCN1A	674	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:679:D:N	SCN1A	679	D	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206778
SCN1A:686:E:A	SCN1A	686	E	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided;not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.22e-05	3	not provided;not specified	unknown	NA	NA	0	0	VariationID_282982
SCN1A:686:E:A	SCN1A	686	E	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	1.22e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:693:R:M	SCN1A	693	R	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.626e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206936
SCN1A:704:L:P	SCN1A	704	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_430031
SCN1A:708:S:P	SCN1A	708	S	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_493298
SCN1A:709:Q:E	SCN1A	709	Q	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.064e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_372645
SCN1A:709:Q:E	SCN1A	709	Q	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	4.064e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:712:R:Q	SCN1A	712	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	3.252e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:719:I:N	SCN1A	719	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_493297
SCN1A:738:W:L	SCN1A	738	W	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189900
SCN1A:738:W:L	SCN1A	738	W	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:743:N:K	SCN1A	743	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.129e-06	2	not specified	unknown	NA	NA	0	0	VariationID_392701
SCN1A:752:P:L	SCN1A	752	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_452734
SCN1A:754:W:L	SCN1A	754	W	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189901
SCN1A:754:W:L	SCN1A	754	W	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:762:N:D	SCN1A	762	N	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:768:P:L	SCN1A	768	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189929
SCN1A:768:P:L	SCN1A	768	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	19350499,24168886
SCN1A:769:F:Y	SCN1A	769	F	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28202706
SCN1A:783:L:P	SCN1A	783	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68515
SCN1A:783:L:P	SCN1A	783	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:785:M:L	SCN1A	785	M	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	1.219e-05	2	Inborn genetic diseases	unknown	NA	NA	0	0	VariationID_521545
SCN1A:785:M:T	SCN1A	785	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206938
SCN1A:785:M:T	SCN1A	785	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:785:M:T	SCN1A	785	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:785:M:V	SCN1A	785	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189917
SCN1A:785:M:V	SCN1A	785	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:786:A:T	SCN1A	786	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	4.065e-06	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:787:M:T	SCN1A	787	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	4.065e-06	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_450127
SCN1A:788:E:K	SCN1A	788	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_372741
SCN1A:788:E:K	SCN1A	788	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18076640
SCN1A:790:Y:C	SCN1A	790	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1	NA	unknown	clinvar	unknown	not provided	0	1	Generalized epilepsy with febrile seizures plus, type 1	maf_pathogenic	NA	NA	0	0	VariationID_68590
SCN1A:790:Y:C	SCN1A	790	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	12919402,25576396,28717674
SCN1A:790:Y:F	SCN1A	790	Y	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Panayiotopoulos syndrome	NA	unknown	hgmd	unknown	DM	2.032e-05	2	Panayiotopoulos syndrome	unknown	NA	NA	0	0	17679682,28202706
SCN1A:793:T:M	SCN1A	793	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	6.911e-05	0	Early infantile epileptic encephalopathy;not specified	unknown	NA	NA	0	0	VariationID_206781
SCN1A:793:T:M	SCN1A	793	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	unknown	DM	6.911e-05	1	Dravet syndrome	unknown	NA	NA	0	0	22848613
SCN1A:794:D:N	SCN1A	794	D	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_493296
SCN1A:802:V:I	SCN1A	802	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.066e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_373533
SCN1A:803:G:R	SCN1A	803	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:804:N:K	SCN1A	804	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:804:N:K	SCN1A	804	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:808:T:S	SCN1A	808	T	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68591
SCN1A:808:T:S	SCN1A	808	T	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275,16210358
SCN1A:812:T:I	SCN1A	812	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome B	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome B	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:812:T:R	SCN1A	812	T	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68518
SCN1A:812:T:R	SCN1A	812	T	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684,19585586
SCN1A:820:I:T	SCN1A	820	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Familial hemiplegic migraine;Seizure Disorders	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Familial hemiplegic migraine;Seizure Disorders	maf_pathogenic	NA	NA	0	0	VariationID_331888
SCN1A:827:Y:D	SCN1A	827	Y	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189971
SCN1A:827:Y:D	SCN1A	827	Y	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:835:F:S	SCN1A	835	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206782
SCN1A:841:T:R	SCN1A	841	T	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461252
SCN1A:842:L:R	SCN1A	842	L	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:843:S:R	SCN1A	843	S	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:843:S:R	SCN1A	843	S	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:846:E:G	SCN1A	846	E	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189957
SCN1A:846:E:G	SCN1A	846	E	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:846:E:K	SCN1A	846	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68519
SCN1A:849:L:P	SCN1A	849	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28202706
SCN1A:851:N:S	SCN1A	851	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.626e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206783
SCN1A:851:N:S	SCN1A	851	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	1.626e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:852:V:M	SCN1A	852	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_391718
SCN1A:853:E:K	SCN1A	853	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684
SCN1A:857:V:I	SCN1A	857	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206784
SCN1A:859:R:C	SCN1A	859	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1;not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Generalized epilepsy with febrile seizures plus, type 1;not provided	maf_pathogenic	NA	NA	0	1	VariationID_68592
SCN1A:859:R:C	SCN1A	859	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	16525050,25576396
SCN1A:859:R:H	SCN1A	859	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Pathogenic	8.153e-06	3	Early infantile epileptic encephalopathy;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	unknown	NA	NA	0	0	VariationID_93639
SCN1A:859:R:H	SCN1A	859	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	8.153e-06	2	Generalized epilepsy with febrile seizures plus	unknown	NA	NA	0	0	21864321,28084635,24277604
SCN1A:862:R:G	SCN1A	862	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	Pathogenic	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_29884
SCN1A:862:R:G	SCN1A	862	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Migrating partial seizures of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Migrating partial seizures of infancy	maf_pathogenic	NA	NA	0	1	21753172
SCN1A:862:R:Q	SCN1A	862	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:862:R:Q	SCN1A	862	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not specified	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	4.154e-06	0	Severe myoclonic epilepsy in infancy;not specified	maf_pathogenic	NA	NA	0	0	VariationID_68593
SCN1A:862:R:Q	SCN1A	862	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	4.154e-06	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271,20110217
SCN1A:862:R:Q	SCN1A	862	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	4.154e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:863:L:W	SCN1A	863	L	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189863
SCN1A:863:L:W	SCN1A	863	L	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:865:R:G	SCN1A	865	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	21864321,24277604
SCN1A:865:R:Q	SCN1A	865	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_372566
SCN1A:868:K:N	SCN1A	868	K	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28202706
SCN1A:869:L:F	SCN1A	869	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:869:L:S	SCN1A	869	L	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_372972
SCN1A:872:S:Y	SCN1A	872	S	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189949
SCN1A:872:S:Y	SCN1A	872	S	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:872:S:Y	SCN1A	872	S	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:875:T:K	SCN1A	875	T	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68594
SCN1A:875:T:K	SCN1A	875	T	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999,20522430,28192756
SCN1A:875:T:M	SCN1A	875	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus, type 2	NA	unknown	clinvar	unknown	Pathogenic	0	1	Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus, type 2	maf_pathogenic	NA	NA	0	0	VariationID_12883
SCN1A:875:T:M	SCN1A	875	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus 2	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus 2	maf_pathogenic	NA	NA	0	1	10742094,11422459,28717674,12086636,14702334,11567038,23195492
SCN1A:876:L:F	SCN1A	876	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:876:L:F	SCN1A	876	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:876:L:I	SCN1A	876	L	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:877:N:S	SCN1A	877	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	4.065e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:879:L:P	SCN1A	879	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	27781031
SCN1A:882:I:F	SCN1A	882	I	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_424525
SCN1A:882:I:F	SCN1A	882	I	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:884:G:D	SCN1A	884	G	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	27236449
SCN1A:886:S:F	SCN1A	886	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:887:V:M	SCN1A	887	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.438e-05	2	not specified	unknown	NA	NA	0	0	VariationID_282593
SCN1A:889:A:T	SCN1A	889	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Early infantile epileptic encephalopathy;not specified	maf_pathogenic	NA	NA	0	0	VariationID_452271
SCN1A:890:L:P	SCN1A	890	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461256
SCN1A:890:L:P	SCN1A	890	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:891:G:E	SCN1A	891	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:892:N:S	SCN1A	892	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448249
SCN1A:894:T:S	SCN1A	894	T	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206785
SCN1A:896:V:F	SCN1A	896	V	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy%2C borderline	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy%2C borderline	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:896:V:I	SCN1A	896	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	unknown	DM	8.124e-06	2	Dravet syndrome	unknown	NA	NA	0	0	22780858,23195492
SCN1A:896:V:L	SCN1A	896	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:897:L:S	SCN1A	897	L	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189924
SCN1A:897:L:S	SCN1A	897	L	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:899:I:T	SCN1A	899	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	19522081,23934111,28717674
SCN1A:902:F:C	SCN1A	902	F	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68595
SCN1A:902:F:C	SCN1A	902	F	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12083760,15263074
SCN1A:905:A:T	SCN1A	905	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:906:V:M	SCN1A	906	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.031e-05	2	not specified	unknown	NA	NA	0	0	VariationID_93640
SCN1A:907:V:F	SCN1A	907	V	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Focal epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Focal epilepsy	maf_pathogenic	NA	NA	0	1	27029629
SCN1A:908:G:R	SCN1A	908	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206786
SCN1A:910:Q:K	SCN1A	910	Q	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189874
SCN1A:910:Q:K	SCN1A	910	Q	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:910:Q:L	SCN1A	910	Q	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:910:Q:R	SCN1A	910	Q	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_422367
SCN1A:924:A:T	SCN1A	924	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0.0001097	3	Early infantile epileptic encephalopathy;not specified	unknown	NA	NA	0	0	VariationID_206734
SCN1A:924:A:T	SCN1A	924	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.0001097	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:927:C:F	SCN1A	927	C	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189978
SCN1A:927:C:F	SCN1A	927	C	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:928:Q:P	SCN1A	928	Q	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_408939
SCN1A:931:R:C	SCN1A	931	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68598
SCN1A:931:R:C	SCN1A	931	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12083760
SCN1A:931:R:H	SCN1A	931	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Early infantile epileptic encephalopathy;Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_189869
SCN1A:931:R:H	SCN1A	931	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy	NA	unknown	hgmd	unknown	DM	0	1	Epilepsy	maf_pathogenic	NA	NA	0	0	21248271,21719429,28079314
SCN1A:931:R:P	SCN1A	931	R	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189961
SCN1A:931:R:P	SCN1A	931	R	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:932:W:C	SCN1A	932	W	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:933:H:P	SCN1A	933	H	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:933:H:Q	SCN1A	933	H	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_422369
SCN1A:933:H:Y	SCN1A	933	H	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_280527
SCN1A:934:M:I	SCN1A	934	M	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68599
SCN1A:934:M:I	SCN1A	934	M	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	14738421,23195492
SCN1A:934:M:I	SCN1A	934	M	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	14738421
SCN1A:934:M:R	SCN1A	934	M	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:935:N:H	SCN1A	935	N	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	18566737
SCN1A:936:D:V	SCN1A	936	D	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	23485646
SCN1A:936:D:Y	SCN1A	936	D	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206790
SCN1A:939:H:D	SCN1A	939	H	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Seizures	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Seizures	maf_pathogenic	NA	NA	0	1	VariationID_436651
SCN1A:939:H:Q	SCN1A	939	H	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_451108
SCN1A:939:H:Q	SCN1A	939	H	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68601
SCN1A:939:H:Q	SCN1A	939	H	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12754708,17054685
SCN1A:939:H:R	SCN1A	939	H	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_93641
SCN1A:939:H:Y	SCN1A	939	H	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68600
SCN1A:939:H:Y	SCN1A	939	H	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	20431604
SCN1A:940:S:F	SCN1A	940	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_381569
SCN1A:940:S:F	SCN1A	940	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:942:L:P	SCN1A	942	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68521
SCN1A:942:L:P	SCN1A	942	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684
SCN1A:942:L:V	SCN1A	942	L	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	27781031
SCN1A:943:I:N	SCN1A	943	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:944:V:A	SCN1A	944	V	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68602
SCN1A:944:V:A	SCN1A	944	V	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	14738421,23195492
SCN1A:944:V:E	SCN1A	944	V	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258,22409937
SCN1A:945:F:L	SCN1A	945	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68522
SCN1A:945:F:L	SCN1A	945	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:946:R:C	SCN1A	946	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68604
SCN1A:946:R:C	SCN1A	946	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	14738421,21864321,23195492,24168886
SCN1A:946:R:C	SCN1A	946	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:946:R:H	SCN1A	946	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Early infantile epileptic encephalopathy;Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68523
SCN1A:946:R:H	SCN1A	946	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	14738421,27781031,21371021,21864321,23195492
SCN1A:946:R:P	SCN1A	946	R	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189882
SCN1A:946:R:P	SCN1A	946	R	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:946:R:S	SCN1A	946	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68603
SCN1A:946:R:S	SCN1A	946	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy of infancy	maf_pathogenic	NA	NA	0	1	15944908
SCN1A:947:V:M	SCN1A	947	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Early infantile epileptic encephalopathy;not provided	maf_pathogenic	NA	NA	0	0	VariationID_206788
SCN1A:949:C:S	SCN1A	949	C	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:949:C:Y	SCN1A	949	C	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:950:G:E	SCN1A	950	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68524
SCN1A:950:G:E	SCN1A	950	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258,22409937
SCN1A:950:G:R	SCN1A	950	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:951:E:G	SCN1A	951	E	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:952:W:G	SCN1A	952	W	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68605
SCN1A:952:W:G	SCN1A	952	W	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	18554359,24168886
SCN1A:952:W:R	SCN1A	952	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	21868258
SCN1A:954:E:K	SCN1A	954	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	8.123e-06	1	Severe myoclonic epilepsy in infancy	unknown	NA	NA	0	0	VariationID_68606
SCN1A:954:E:K	SCN1A	954	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	8.123e-06	1	Dravet syndrome C	unknown	NA	NA	0	0	21248271,20110217
SCN1A:954:E:V	SCN1A	954	E	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	VariationID_238601
SCN1A:955:T:I	SCN1A	955	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:956:M:I	SCN1A	956	M	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461257
SCN1A:956:M:K	SCN1A	956	M	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:956:M:T	SCN1A	956	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Febrile seizures plus	maf_pathogenic	NA	NA	0	1	25576396,27066544
SCN1A:957:W:L	SCN1A	957	W	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68525
SCN1A:957:W:L	SCN1A	957	W	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17561957
SCN1A:957:W:R	SCN1A	957	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	21425109
SCN1A:959:C:R	SCN1A	959	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68607
SCN1A:959:C:R	SCN1A	959	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12754708,17054685
SCN1A:959:C:S	SCN1A	959	C	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:959:C:Y	SCN1A	959	C	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_189867
SCN1A:959:C:Y	SCN1A	959	C	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886,23934111
SCN1A:959:C:Y	SCN1A	959	C	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	EE_E	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	1	1	29942082
SCN1A:959:C:Y	SCN1A	959	C	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:960:M:R	SCN1A	960	M	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189858
SCN1A:960:M:R	SCN1A	960	M	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:960:M:T	SCN1A	960	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	0	1	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:960:M:V	SCN1A	960	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68608
SCN1A:960:M:V	SCN1A	960	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275
SCN1A:968:C:F	SCN1A	968	C	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189992
SCN1A:968:C:F	SCN1A	968	C	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:968:C:G	SCN1A	968	C	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	27652284
SCN1A:969:L:P	SCN1A	969	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28079314
SCN1A:971:V:I	SCN1A	971	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	unknown	DM	8.122e-06	2	Dravet syndrome	unknown	NA	NA	0	0	28202706
SCN1A:971:V:L	SCN1A	971	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28469861
SCN1A:973:M:K	SCN1A	973	M	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:973:M:V	SCN1A	973	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy	NA	unknown	clinvar	unknown	not provided	0	1	Generalized epilepsy	maf_pathogenic	NA	NA	0	0	VariationID_68526
SCN1A:973:M:V	SCN1A	973	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Cryptogenic generalised epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cryptogenic generalised epilepsy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:975:V:L	SCN1A	975	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_167642
SCN1A:976:M:I	SCN1A	976	M	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	19522081,28717674
SCN1A:976:M:L	SCN1A	976	M	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	4.061e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:976:M:T	SCN1A	976	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_373282
SCN1A:977:V:M	SCN1A	977	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189999
SCN1A:977:V:M	SCN1A	977	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:978:I:T	SCN1A	978	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461258
SCN1A:979:G:E	SCN1A	979	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_190016
SCN1A:979:G:E	SCN1A	979	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:979:G:R	SCN1A	979	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68609
SCN1A:979:G:R	SCN1A	979	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275,16210358
SCN1A:979:G:V	SCN1A	979	G	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome B	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome B	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:980:N:S	SCN1A	980	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206793
SCN1A:981:L:I	SCN1A	981	L	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	not provided	maf_pathogenic	NA	NA	0	0	VariationID_372977
SCN1A:981:L:P	SCN1A	981	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:982:V:L	SCN1A	982	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	19763161,22309220
SCN1A:983:V:A	SCN1A	983	V	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68610
SCN1A:983:V:A	SCN1A	983	V	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275,16210358
SCN1A:983:V:F	SCN1A	983	V	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	unknown	DM	0	1	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	0	22140375
SCN1A:983:V:I	SCN1A	983	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461261
SCN1A:985:N:H	SCN1A	985	N	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:985:N:I	SCN1A	985	N	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68611
SCN1A:985:N:I	SCN1A	985	N	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275
SCN1A:985:N:S	SCN1A	985	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:986:L:F	SCN1A	986	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	Pathogenic	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_12890
SCN1A:986:L:F	SCN1A	986	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	11359211,14672992,14672992,23086956
SCN1A:986:L:P	SCN1A	986	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:987:F:L	SCN1A	987	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:989:A:V	SCN1A	989	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206794
SCN1A:990:L:F	SCN1A	990	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18076640
SCN1A:993:S:R	SCN1A	993	S	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome B	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome B	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:994:S:L	SCN1A	994	S	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:995:F:C	SCN1A	995	F	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_167641
SCN1A:995:F:L	SCN1A	995	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:995:F:L	SCN1A	995	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not specified	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Severe myoclonic epilepsy in infancy;not specified	maf_pathogenic	NA	NA	0	0	VariationID_189905
SCN1A:995:F:L	SCN1A	995	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:995:F:L	SCN1A	995	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:995:F:L	SCN1A	995	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:998:D:E	SCN1A	998	D	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206795
SCN1A:998:D:G	SCN1A	998	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1006:D:E	SCN1A	1006	D	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.267e-06	2	not specified	unknown	NA	NA	0	0	VariationID_449377
SCN1A:1006:D:E	SCN1A	1006	D	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy	NA	unknown	hgmd	unknown	DM	8.267e-06	1	Epilepsy	unknown	NA	NA	0	0	21248271
SCN1A:1011:N:I	SCN1A	1011	N	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68612
SCN1A:1011:N:I	SCN1A	1011	N	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275,16210358
SCN1A:1011:N:S	SCN1A	1011	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1015:A:V	SCN1A	1015	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.292e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206939
SCN1A:1016:V:M	SCN1A	1016	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_429403
SCN1A:1020:H:Q	SCN1A	1020	H	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	1.693e-05	0	Early infantile epileptic encephalopathy;not provided;not specified	unknown	NA	NA	0	0	VariationID_194617
SCN1A:1020:H:Q	SCN1A	1020	H	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	1.693e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1025:Y:F	SCN1A	1025	Y	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	4.722e-05	1	not provided	unknown	NA	NA	0	0	VariationID_425226
SCN1A:1025:Y:F	SCN1A	1025	Y	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	4.722e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1026:V:A	SCN1A	1026	V	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1033:F:S	SCN1A	1033	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.273e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206796
SCN1A:1034:I:T	SCN1A	1034	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002094	0	Autistic disorder of childhood onset;Early infantile epileptic encephalopathy;not specified	unknown	NA	NA	0	0	VariationID_68613
SCN1A:1034:I:T	SCN1A	1034	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Autism	NA	unknown	hgmd	unknown	DM	0.0002094	1	Autism	unknown	NA	NA	0	0	12610651
SCN1A:1034:I:T	SCN1A	1034	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.0002094	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1038:F:L	SCN1A	1038	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Autism	NA	unknown	hgmd	unknown	DM	0	1	Autism	maf_pathogenic	NA	NA	0	0	12610651
SCN1A:1040:R:S	SCN1A	1040	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1040:R:S	SCN1A	1040	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_499658
SCN1A:1040:R:S	SCN1A	1040	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1041:K:E	SCN1A	1041	K	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.29e-06	2	not specified	unknown	NA	NA	0	0	VariationID_393218
SCN1A:1055:N:K	SCN1A	1055	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_408925
SCN1A:1059:D:V	SCN1A	1059	D	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.484e-05	3	not specified	unknown	NA	NA	0	0	VariationID_194616
SCN1A:1064:N:S	SCN1A	1064	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	8.144e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1066:T:A	SCN1A	1066	T	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:1067:A:T	SCN1A	1067	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Familial hemiplegic migraine;Generalized epilepsy with febrile seizures plus;Seizure Disorders;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.7249	3	Familial hemiplegic migraine;Generalized epilepsy with febrile seizures plus;Seizure Disorders;not specified	unknown	NA	NA	0	0	VariationID_36753
SCN1A:1068:E:K	SCN1A	1068	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1074:D:N	SCN1A	1074	D	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.068e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206797
SCN1A:1084:S:C	SCN1A	1084	S	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intractable epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intractable epilepsy	maf_pathogenic	NA	NA	0	1	24842605
SCN1A:1087:G:E	SCN1A	1087	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28202706
SCN1A:1119:V:I	SCN1A	1119	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.126e-06	2	not specified	unknown	NA	NA	0	0	VariationID_449146
SCN1A:1131:D:H	SCN1A	1131	D	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1161:A:T	SCN1A	1161	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0003864	0	Early infantile epileptic encephalopathy;Familial hemiplegic migraine type 3;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not specified	unknown	NA	NA	0	0	VariationID_194721
SCN1A:1168:V:I	SCN1A	1168	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	1.627e-05	2	not provided	unknown	NA	NA	0	0	VariationID_496119
SCN1A:1174:T:S	SCN1A	1174	T	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.001679	0	Absence seizures;Early infantile epileptic encephalopathy;Familial hemiplegic migraine;Familial hemiplegic migraine type 3;Generalized tonic-clonic seizures;Seizure Disorders;Seizures;not specified	unknown	NA	NA	0	0	VariationID_68616
SCN1A:1174:T:S	SCN1A	1174	T	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Hemiplegic migraine	NA	gof	hgmd	unknown	DM	0.001679	2	Hemiplegic migraine	unknown	NA	NA	0	0	18021921,23398611,11254445,22550089,26990884,22780858,21396429
SCN1A:1174:T:S	SCN1A	1174	T	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.001679	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1177:P:R	SCN1A	1177	P	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_521780
SCN1A:1180:C:S	SCN1A	1180	C	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:1180:C:S	SCN1A	1180	C	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1185:C:R	SCN1A	1185	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_449127
SCN1A:1186:V:L	SCN1A	1186	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.08e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206804
SCN1A:1186:V:L	SCN1A	1186	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	4.08e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1197:E:Q	SCN1A	1197	E	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1204:W:R	SCN1A	1204	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus, type 2	NA	unknown	clinvar	unknown	Pathogenic	0	1	Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus, type 2	maf_pathogenic	NA	NA	0	0	VariationID_12887
SCN1A:1204:W:R	SCN1A	1204	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	11254445,25576396,28717674,12086636,14702334,12535936
SCN1A:1204:W:S	SCN1A	1204	W	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	0	1	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1205:W:R	SCN1A	1205	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1206:N:K	SCN1A	1206	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_453070
SCN1A:1207:L:P	SCN1A	1207	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68530
SCN1A:1207:L:P	SCN1A	1207	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	18413471
SCN1A:1208:R:K	SCN1A	1208	R	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome B	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome B	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1210:T:K	SCN1A	1210	T	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68617
SCN1A:1210:T:K	SCN1A	1210	T	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	19350499,24168886
SCN1A:1210:T:M	SCN1A	1210	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	1.221e-05	2	Generalized epilepsy with febrile seizures plus	unknown	NA	NA	0	0	28202706
SCN1A:1213:R:Q	SCN1A	1213	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Likely benign	2.036e-05	2	not specified	unknown	NA	NA	0	0	VariationID_516847
SCN1A:1213:R:Q	SCN1A	1213	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intractable epilepsy	NA	unknown	hgmd	unknown	DM	2.036e-05	2	Intractable epilepsy	unknown	NA	NA	0	0	23195492
SCN1A:1214:I:R	SCN1A	1214	I	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome	maf_pathogenic	NA	NA	0	0	22848613
SCN1A:1216:E:K	SCN1A	1216	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_93644
SCN1A:1216:E:K	SCN1A	1216	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:1217:H:R	SCN1A	1217	H	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206805
SCN1A:1219:W:R	SCN1A	1219	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461265
SCN1A:1221:E:K	SCN1A	1221	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1221:E:Q	SCN1A	1221	E	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_190031
SCN1A:1221:E:Q	SCN1A	1221	E	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:1228:I:S	SCN1A	1228	I	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206806
SCN1A:1230:L:F	SCN1A	1230	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	0	1	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1231:S:R	SCN1A	1231	S	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68619
SCN1A:1231:S:R	SCN1A	1231	S	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275
SCN1A:1231:S:T	SCN1A	1231	S	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68618
SCN1A:1231:S:T	SCN1A	1231	S	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	16458823
SCN1A:1233:G:D	SCN1A	1233	G	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	not provided;not specified	maf_pathogenic	NA	NA	0	0	VariationID_432867
SCN1A:1233:G:R	SCN1A	1233	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68531
SCN1A:1233:G:R	SCN1A	1233	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12821740
SCN1A:1236:A:P	SCN1A	1236	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189933
SCN1A:1236:A:P	SCN1A	1236	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:1237:F:S	SCN1A	1237	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_449140
SCN1A:1238:E:D	SCN1A	1238	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	4.548e-05	3	Early infantile epileptic encephalopathy;Severe myoclonic epilepsy in infancy;not specified	unknown	NA	NA	0	0	VariationID_68532
SCN1A:1238:E:D	SCN1A	1238	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	unknown	DM	4.548e-05	2	Myoclonic epilepsy of infancy	unknown	NA	NA	0	0	17347258
SCN1A:1238:E:Q	SCN1A	1238	E	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	4.14e-06	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_238602
SCN1A:1239:D:G	SCN1A	1239	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1239:D:Y	SCN1A	1239	D	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1241:Y:H	SCN1A	1241	Y	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:1245:R:Q	SCN1A	1245	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68533
SCN1A:1245:R:Q	SCN1A	1245	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684,28202706,21906962
SCN1A:1249:K:N	SCN1A	1249	K	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	19522081,28717674
SCN1A:1250:T:M	SCN1A	1250	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0004423	0	Early infantile epileptic encephalopathy;not specified	unknown	NA	NA	0	0	VariationID_206807
SCN1A:1250:T:M	SCN1A	1250	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	0.0004423	1	Generalized epilepsy with febrile seizures plus	unknown	NA	NA	0	0	19522081,21719429,26990884
SCN1A:1250:T:M	SCN1A	1250	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.0004423	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1251:M:T	SCN1A	1251	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	2.047e-05	2	Early infantile epileptic encephalopathy	unknown	NA	NA	0	0	VariationID_408940
SCN1A:1254:Y:C	SCN1A	1254	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intractable epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intractable epilepsy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1255:A:D	SCN1A	1255	A	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1255:A:P	SCN1A	1255	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189879
SCN1A:1255:A:P	SCN1A	1255	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:1258:V:I	SCN1A	1258	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206808
SCN1A:1259:F:C	SCN1A	1259	F	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	23398550
SCN1A:1259:F:S	SCN1A	1259	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	8.171e-06	0	not provided;not specified	unknown	NA	NA	0	0	VariationID_93645
SCN1A:1260:T:P	SCN1A	1260	T	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68621
SCN1A:1260:T:P	SCN1A	1260	T	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	20431604
SCN1A:1263:F:L	SCN1A	1263	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68622
SCN1A:1263:F:L	SCN1A	1263	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275
SCN1A:1265:L:P	SCN1A	1265	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68623
SCN1A:1265:L:P	SCN1A	1265	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12083760
SCN1A:1265:L:P	SCN1A	1265	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1266:E:A	SCN1A	1266	E	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1267:M:T	SCN1A	1267	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_421777
SCN1A:1270:K:N	SCN1A	1270	K	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_167638
SCN1A:1270:K:T	SCN1A	1270	K	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus, type 2	NA	unknown	clinvar	unknown	Pathogenic	0	1	Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus, type 2	maf_pathogenic	NA	NA	0	0	VariationID_12891
SCN1A:1270:K:T	SCN1A	1270	K	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	11756608,28102150,28717674,23055484
SCN1A:1273:A:P	SCN1A	1273	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_93647
SCN1A:1273:A:V	SCN1A	1273	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_190013
SCN1A:1274:Y:N	SCN1A	1274	Y	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	20682179,N/A
SCN1A:1274:Y:S	SCN1A	1274	Y	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_190028
SCN1A:1274:Y:S	SCN1A	1274	Y	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:1275:G:A	SCN1A	1275	G	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	23647072
SCN1A:1275:G:D	SCN1A	1275	G	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206810
SCN1A:1275:G:V	SCN1A	1275	G	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1284:W:R	SCN1A	1284	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206811
SCN1A:1284:W:S	SCN1A	1284	W	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1287:L:P	SCN1A	1287	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68624
SCN1A:1287:L:P	SCN1A	1287	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	20431604
SCN1A:1288:D:G	SCN1A	1288	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1288:D:H	SCN1A	1288	D	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:1288:D:H	SCN1A	1288	D	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_451870
SCN1A:1288:D:H	SCN1A	1288	D	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1288:D:N	SCN1A	1288	D	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1289:F:S	SCN1A	1289	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	3	Early infantile epileptic encephalopathy;not specified	maf_pathogenic	NA	NA	0	0	VariationID_194932
SCN1A:1296:L:M	SCN1A	1296	L	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1300:T:I	SCN1A	1300	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0.0001551	3	Early infantile epileptic encephalopathy;not specified	unknown	NA	NA	0	0	VariationID_206812
SCN1A:1300:T:I	SCN1A	1300	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.0001551	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1300:T:R	SCN1A	1300	T	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189968
SCN1A:1300:T:R	SCN1A	1300	T	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:1301:A:V	SCN1A	1301	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461267
SCN1A:1308:E:D	SCN1A	1308	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided;not specified	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0006244	0	Severe myoclonic epilepsy in infancy;not provided;not specified	unknown	NA	NA	0	0	VariationID_68534
SCN1A:1308:E:D	SCN1A	1308	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Febrile seizures	NA	unknown	hgmd	unknown	DM	0.0006244	2	Febrile seizures	unknown	NA	NA	0	0	19522081,28717674,26990884,27881154
SCN1A:1308:E:D	SCN1A	1308	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.0006244	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1309:L:F	SCN1A	1309	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1;not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.081e-06	2	Generalized epilepsy with febrile seizures plus, type 1;not specified	maf_pathogenic	NA	NA	0	0	VariationID_68625
SCN1A:1309:L:F	SCN1A	1309	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	4.081e-06	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	20117752,28102150
SCN1A:1313:K:I	SCN1A	1313	K	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	25459968
SCN1A:1313:K:T	SCN1A	1313	K	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_421599
SCN1A:1316:R:G	SCN1A	1316	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1316:R:S	SCN1A	1316	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1316:R:S	SCN1A	1316	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1316:R:W	SCN1A	1316	R	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	21868258
SCN1A:1318:L:R	SCN1A	1318	L	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	22147323
SCN1A:1320:A:V	SCN1A	1320	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome B	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome B	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1322:R:I	SCN1A	1322	R	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	25459968
SCN1A:1322:R:T	SCN1A	1322	R	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Rett-like syndrome	NA	unknown	hgmd	unknown	DM	0	1	Rett-like syndrome	maf_pathogenic	NA	NA	0	0	27541642
SCN1A:1323:P:H	SCN1A	1323	P	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_383819
SCN1A:1323:P:R	SCN1A	1323	P	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	21868258
SCN1A:1325:R:T	SCN1A	1325	R	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intractable epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intractable epilepsy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1326:A:D	SCN1A	1326	A	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	19763161
SCN1A:1326:A:P	SCN1A	1326	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68626
SCN1A:1326:A:P	SCN1A	1326	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	14504318,22409937
SCN1A:1326:A:V	SCN1A	1326	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy-aphasia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy-aphasia	maf_pathogenic	NA	NA	0	1	23708187
SCN1A:1328:S:P	SCN1A	1328	S	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:1328:S:P	SCN1A	1328	S	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999,27458797,23195492,25525159
SCN1A:1328:S:P	SCN1A	1328	S	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1332:G:E	SCN1A	1332	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:1332:G:W	SCN1A	1332	G	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1333:M:T	SCN1A	1333	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	21425109
SCN1A:1335:V:M	SCN1A	1335	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68535
SCN1A:1335:V:M	SCN1A	1335	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	18413471,24168886
SCN1A:1336:V:I	SCN1A	1336	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206817
SCN1A:1337:V:G	SCN1A	1337	V	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_195578
SCN1A:1338:N:T	SCN1A	1338	N	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Inborn genetic diseases	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	1	VariationID_208778
SCN1A:1338:N:T	SCN1A	1338	N	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24901346,25356970,26795593
SCN1A:1338:N:T	SCN1A	1338	N	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	E_NDD_E	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	E_NDD_E	maf_pathogenic	NA	NA	1	1	29942082
SCN1A:1339:A:D	SCN1A	1339	A	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206818
SCN1A:1339:A:V	SCN1A	1339	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189952
SCN1A:1339:A:V	SCN1A	1339	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492,22092154
SCN1A:1343:A:P	SCN1A	1343	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206819
SCN1A:1343:A:S	SCN1A	1343	A	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461268
SCN1A:1344:I:M	SCN1A	1344	I	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1345:P:L	SCN1A	1345	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy of infancy with migrating focal seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy of infancy with migrating focal seizures	maf_pathogenic	NA	NA	0	1	26993267
SCN1A:1345:P:S	SCN1A	1345	P	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset	maf_pathogenic	NA	NA	0	1	23708187,28794249
SCN1A:1347:I:N	SCN1A	1347	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_488378
SCN1A:1347:I:T	SCN1A	1347	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	27652284
SCN1A:1348:M:I	SCN1A	1348	M	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_429551
SCN1A:1348:M:I	SCN1A	1348	M	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189991
SCN1A:1348:M:I	SCN1A	1348	M	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:1350:V:G	SCN1A	1350	V	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1352:L:P	SCN1A	1352	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189990
SCN1A:1352:L:P	SCN1A	1352	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:1353:V:L	SCN1A	1353	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus, type 2	NA	unknown	clinvar	unknown	Pathogenic	0	1	Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus, type 2	maf_pathogenic	NA	NA	0	0	VariationID_12885
SCN1A:1353:V:L	SCN1A	1353	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	11254444,28717674,14672992
SCN1A:1354:C:F	SCN1A	1354	C	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	VariationID_408922
SCN1A:1354:C:R	SCN1A	1354	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_429569
SCN1A:1354:C:S	SCN1A	1354	C	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_383166
SCN1A:1354:C:Y	SCN1A	1354	C	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	25459968
SCN1A:1355:L:P	SCN1A	1355	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68627
SCN1A:1355:L:P	SCN1A	1355	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	14738421,23195492
SCN1A:1357:F:L	SCN1A	1357	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intractable epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intractable epilepsy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1358:W:R	SCN1A	1358	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1358:W:S	SCN1A	1358	W	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68536
SCN1A:1358:W:S	SCN1A	1358	W	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	18413471
SCN1A:1359:L:I	SCN1A	1359	L	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:1362:S:R	SCN1A	1362	S	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189942
SCN1A:1362:S:R	SCN1A	1362	S	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:1363:I:N	SCN1A	1363	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189856
SCN1A:1363:I:N	SCN1A	1363	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:1366:V:I	SCN1A	1366	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1	NA	unknown	clinvar	unknown	not provided	2.041e-05	1	Generalized epilepsy with febrile seizures plus, type 1	unknown	NA	NA	0	0	VariationID_68628
SCN1A:1366:V:I	SCN1A	1366	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	2.041e-05	2	Generalized epilepsy with febrile seizures plus	unknown	NA	NA	0	0	17507202,25576396
SCN1A:1366:V:L	SCN1A	1366	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_418476
SCN1A:1367:N:K	SCN1A	1367	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68629
SCN1A:1367:N:K	SCN1A	1367	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999,20522430
SCN1A:1370:A:P	SCN1A	1370	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome B	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome B	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1370:A:V	SCN1A	1370	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	VariationID_461269
SCN1A:1370:A:V	SCN1A	1370	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28202706
SCN1A:1371:G:R	SCN1A	1371	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_421697
SCN1A:1371:G:V	SCN1A	1371	G	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24656210
SCN1A:1372:K:E	SCN1A	1372	K	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	24257433,28717674
SCN1A:1373:F:S	SCN1A	1373	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:1376:C:R	SCN1A	1376	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intractable epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intractable epilepsy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1376:C:R	SCN1A	1376	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1377:I:N	SCN1A	1377	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28202706
SCN1A:1377:I:V	SCN1A	1377	I	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.631e-05	3	not specified	unknown	NA	NA	0	0	VariationID_287064
SCN1A:1378:N:H	SCN1A	1378	N	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1378:N:T	SCN1A	1378	N	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_430089
SCN1A:1378:N:T	SCN1A	1378	N	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1382:G:R	SCN1A	1382	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	23158734
SCN1A:1385:F:V	SCN1A	1385	F	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1388:E:K	SCN1A	1388	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.631e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206820
SCN1A:1390:V:L	SCN1A	1390	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_190014
SCN1A:1390:V:L	SCN1A	1390	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus 2	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus 2	maf_pathogenic	NA	NA	0	1	21775168,26096185
SCN1A:1390:V:M	SCN1A	1390	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68537
SCN1A:1390:V:M	SCN1A	1390	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12083760,22780858
SCN1A:1390:V:M	SCN1A	1390	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1391:N:H	SCN1A	1391	N	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_449638
SCN1A:1391:N:S	SCN1A	1391	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_449374
SCN1A:1391:N:S	SCN1A	1391	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1392:N:K	SCN1A	1392	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early infantile	maf_pathogenic	NA	NA	0	1	28387369
SCN1A:1393:H:D	SCN1A	1393	H	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28084635
SCN1A:1393:H:P	SCN1A	1393	H	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17129991
SCN1A:1394:T:I	SCN1A	1394	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271,28781887
SCN1A:1395:D:Y	SCN1A	1395	D	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	21114141
SCN1A:1396:C:G	SCN1A	1396	C	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68538
SCN1A:1396:C:G	SCN1A	1396	C	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:1396:C:Y	SCN1A	1396	C	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1404:E:A	SCN1A	1404	E	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17129991
SCN1A:1406:A:T	SCN1A	1406	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	21868258
SCN1A:1414:N:D	SCN1A	1414	N	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	0	1	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1414:N:K	SCN1A	1414	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_93650
SCN1A:1414:N:Y	SCN1A	1414	N	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68539
SCN1A:1414:N:Y	SCN1A	1414	N	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17561957
SCN1A:1415:F:I	SCN1A	1415	F	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23773995
SCN1A:1416:D:G	SCN1A	1416	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1416:D:H	SCN1A	1416	D	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome	maf_pathogenic	NA	NA	0	0	23895530
SCN1A:1417:N:S	SCN1A	1417	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1418:V:G	SCN1A	1418	V	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1421:G:E	SCN1A	1421	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_422403
SCN1A:1422:Y:C	SCN1A	1422	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	4.09e-06	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68540
SCN1A:1422:Y:C	SCN1A	1422	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	4.09e-06	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684
SCN1A:1423:L:F	SCN1A	1423	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1423:L:V	SCN1A	1423	L	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	VariationID_408936
SCN1A:1426:L:H	SCN1A	1426	L	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28540321
SCN1A:1426:L:R	SCN1A	1426	L	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68541
SCN1A:1426:L:R	SCN1A	1426	L	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684
SCN1A:1427:Q:L	SCN1A	1427	Q	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_372903
SCN1A:1427:Q:P	SCN1A	1427	Q	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1428:V:A	SCN1A	1428	V	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus, type 2	NA	unknown	clinvar	unknown	Pathogenic	0	1	Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus, type 2	maf_pathogenic	NA	NA	0	0	VariationID_12892
SCN1A:1428:V:A	SCN1A	1428	V	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Febrile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Febrile seizures	maf_pathogenic	NA	NA	0	1	11524484,11823106,28199897
SCN1A:1428:V:F	SCN1A	1428	V	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	VariationID_238603
SCN1A:1429:A:D	SCN1A	1429	A	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intractable epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intractable epilepsy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1429:A:S	SCN1A	1429	A	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Developmental disorder and intellectual disability	NA	unknown	hgmd	unknown	DM	0	1	Developmental disorder and intellectual disability	maf_pathogenic	NA	NA	0	0	23032131
SCN1A:1429:A:T	SCN1A	1429	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206822
SCN1A:1429:A:V	SCN1A	1429	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28084635
SCN1A:1431:F:C	SCN1A	1431	F	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:1431:F:C	SCN1A	1431	F	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1431:F:I	SCN1A	1431	F	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1432:K:R	SCN1A	1432	K	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	25459968
SCN1A:1433:G:E	SCN1A	1433	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68630
SCN1A:1433:G:E	SCN1A	1433	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	18554359,24168886
SCN1A:1433:G:R	SCN1A	1433	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206814
SCN1A:1433:G:R	SCN1A	1433	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68542
SCN1A:1433:G:R	SCN1A	1433	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	20729507
SCN1A:1433:G:V	SCN1A	1433	G	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1434:W:R	SCN1A	1434	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68631
SCN1A:1434:W:R	SCN1A	1434	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12083760,23808377
SCN1A:1435:M:K	SCN1A	1435	M	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_429665
SCN1A:1437:I:M	SCN1A	1437	I	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1438:M:T	SCN1A	1438	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28079314
SCN1A:1440:A:E	SCN1A	1440	A	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	23808377
SCN1A:1440:A:T	SCN1A	1440	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1440:A:V	SCN1A	1440	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	26637798
SCN1A:1441:A:P	SCN1A	1441	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68543
SCN1A:1441:A:P	SCN1A	1441	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258,23895530
SCN1A:1441:A:T	SCN1A	1441	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_372966
SCN1A:1441:A:T	SCN1A	1441	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	25459968
SCN1A:1444:S:P	SCN1A	1444	S	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:1444:S:P	SCN1A	1444	S	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1448:E:Q	SCN1A	1448	E	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1449:L:F	SCN1A	1449	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.232e-05	3	not specified	unknown	NA	NA	0	0	VariationID_206826
SCN1A:1449:L:F	SCN1A	1449	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	1.232e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1450:Q:K	SCN1A	1450	Q	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68632
SCN1A:1450:Q:K	SCN1A	1450	Q	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	19589774
SCN1A:1450:Q:P	SCN1A	1450	Q	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	21488261,23485646
SCN1A:1450:Q:R	SCN1A	1450	Q	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68633
SCN1A:1450:Q:R	SCN1A	1450	Q	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12083760
SCN1A:1451:P:L	SCN1A	1451	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68544
SCN1A:1451:P:L	SCN1A	1451	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684
SCN1A:1451:P:S	SCN1A	1451	P	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1451:P:T	SCN1A	1451	P	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189843
SCN1A:1451:P:T	SCN1A	1451	P	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:1453:Y:C	SCN1A	1453	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy%2C borderline	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy%2C borderline	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1454:E:K	SCN1A	1454	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1455:E:K	SCN1A	1455	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_429801
SCN1A:1457:L:R	SCN1A	1457	L	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	27824329
SCN1A:1457:L:V	SCN1A	1457	L	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206828
SCN1A:1461:L:I	SCN1A	1461	L	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	4.096e-06	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68634
SCN1A:1461:L:I	SCN1A	1461	L	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	4.096e-06	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12821740
SCN1A:1462:Y:C	SCN1A	1462	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68545
SCN1A:1462:Y:C	SCN1A	1462	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	18413471
SCN1A:1462:Y:H	SCN1A	1462	Y	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271,23195492
SCN1A:1463:F:L	SCN1A	1463	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_195736
SCN1A:1463:F:L	SCN1A	1463	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	21844054
SCN1A:1463:F:S	SCN1A	1463	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68546
SCN1A:1463:F:S	SCN1A	1463	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12821740
SCN1A:1465:I:V	SCN1A	1465	I	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Benign/Likely benign	0.0002661	3	Early infantile epileptic encephalopathy;not specified	unknown	NA	NA	0	0	VariationID_138982
SCN1A:1467:I:L	SCN1A	1467	I	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:1469:F:L	SCN1A	1469	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_195737
SCN1A:1470:G:W	SCN1A	1470	G	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68547
SCN1A:1470:G:W	SCN1A	1470	G	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17561957
SCN1A:1471:S:F	SCN1A	1471	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:1471:S:F	SCN1A	1471	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189976
SCN1A:1471:S:F	SCN1A	1471	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:1471:S:F	SCN1A	1471	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1471:S:Y	SCN1A	1471	S	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_418709
SCN1A:1472:F:S	SCN1A	1472	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy%2C borderline	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy%2C borderline	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1472:F:V	SCN1A	1472	F	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1475:L:S	SCN1A	1475	L	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68548
SCN1A:1475:L:S	SCN1A	1475	L	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684
SCN1A:1476:N:K	SCN1A	1476	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome B	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome B	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1480:G:C	SCN1A	1480	G	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206830
SCN1A:1480:G:V	SCN1A	1480	G	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic encephalopathy	NA	unknown	clinvar	unknown	not provided	0	1	Myoclonic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_68549
SCN1A:1480:G:V	SCN1A	1480	G	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic-astatic epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic-astatic epilepsy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:1481:V:I	SCN1A	1481	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_426175
SCN1A:1482:I:L	SCN1A	1482	I	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 2	NA	unknown	clinvar	unknown	Likely pathogenic	0	1	Generalized epilepsy with febrile seizures plus, type 2	maf_pathogenic	NA	NA	0	0	VariationID_202173
SCN1A:1482:I:M	SCN1A	1482	I	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_167637
SCN1A:1483:I:M	SCN1A	1483	I	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy	NA	unknown	hgmd	unknown	DM	0	1	Epilepsy	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1484:D:G	SCN1A	1484	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1485:N:D	SCN1A	1485	N	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	23708187
SCN1A:1485:N:Y	SCN1A	1485	N	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1489:Q:H	SCN1A	1489	Q	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Familial hemiplegic migraine type 3	NA	gof	clinvar	unknown	Pathogenic	0	1	Familial hemiplegic migraine type 3	maf_pathogenic	NA	NA	0	0	VariationID_12903
SCN1A:1489:Q:H	SCN1A	1489	Q	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Hemiplegic migraine 2	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine 2	maf_pathogenic	NA	NA	1	1	19332696
SCN1A:1489:Q:K	SCN1A	1489	Q	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Familial hemiplegic migraine type 3	NA	gof	clinvar	unknown	Pathogenic	0	1	Familial hemiplegic migraine type 3	maf_pathogenic	NA	NA	0	0	VariationID_12893
SCN1A:1489:Q:K	SCN1A	1489	Q	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	16054936,28717674,23398611,18632931,18621678
SCN1A:1498:I:M	SCN1A	1498	I	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	24707016
SCN1A:1498:I:N	SCN1A	1498	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206833
SCN1A:1499:F:L	SCN1A	1499	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Familial hemiplegic migraine type 3	NA	gof	clinvar	unknown	Pathogenic	0	1	Familial hemiplegic migraine type 3	maf_pathogenic	NA	NA	0	0	VariationID_12902
SCN1A:1499:F:L	SCN1A	1499	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Hemiplegic migraine 2	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine 2	maf_pathogenic	NA	NA	1	1	19332696
SCN1A:1500:M:V	SCN1A	1500	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Hemiplegic migraine 3	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine 3	maf_pathogenic	NA	NA	1	1	26747084
SCN1A:1503:E:G	SCN1A	1503	E	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	23398550
SCN1A:1503:E:K	SCN1A	1503	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	19783390,23195492
SCN1A:1504:Q:H	SCN1A	1504	Q	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1504:Q:L	SCN1A	1504	Q	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206834
SCN1A:1507:Y:D	SCN1A	1507	Y	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:1510:A:E	SCN1A	1510	A	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Lennox-Gastaut syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Lennox-Gastaut syndrome	maf_pathogenic	NA	NA	0	1	23934111
SCN1A:1510:A:E	SCN1A	1510	A	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	EE_E	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	1	1	29942082
SCN1A:1510:A:G	SCN1A	1510	A	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Abnormality of the nervous system	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Abnormality of the nervous system	maf_pathogenic	NA	NA	0	1	26633542
SCN1A:1510:A:V	SCN1A	1510	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1511:M:K	SCN1A	1511	M	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intractable epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intractable epilepsy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1511:M:R	SCN1A	1511	M	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_431865
SCN1A:1514:L:S	SCN1A	1514	L	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not specified	NA	lof	clinvar	unknown	Uncertain significance	0	2	Severe myoclonic epilepsy in infancy;not specified	maf_pathogenic	NA	NA	0	0	VariationID_68635
SCN1A:1514:L:S	SCN1A	1514	L	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	20522430
SCN1A:1515:G:R	SCN1A	1515	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206836
SCN1A:1515:G:R	SCN1A	1515	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Lenox–Gastaut syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Lenox–Gastaut syndrome	maf_pathogenic	NA	NA	0	1	25108116
SCN1A:1516:S:L	SCN1A	1516	S	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	0	0	VariationID_69406
SCN1A:1516:S:W	SCN1A	1516	S	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189923
SCN1A:1516:S:W	SCN1A	1516	S	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:1519:P:L	SCN1A	1519	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0.0001508	2	not provided	unknown	NA	NA	0	0	VariationID_206839
SCN1A:1519:P:L	SCN1A	1519	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.0001508	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1519:P:T	SCN1A	1519	P	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206838
SCN1A:1519:P:T	SCN1A	1519	P	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	23398550
SCN1A:1519:P:T	SCN1A	1519	P	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1523:I:T	SCN1A	1523	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	21719429
SCN1A:1523:I:V	SCN1A	1523	I	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461274
SCN1A:1524:P:T	SCN1A	1524	P	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.63e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206840
SCN1A:1525:R:Q	SCN1A	1525	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706,28951233,28951233
SCN1A:1526:P:R	SCN1A	1526	P	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206841
SCN1A:1528:N:D	SCN1A	1528	N	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_195863
SCN1A:1528:N:K	SCN1A	1528	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	3	not specified	maf_pathogenic	NA	NA	0	0	VariationID_93653
SCN1A:1528:N:K	SCN1A	1528	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:1534:V:G	SCN1A	1534	V	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1538:V:I	SCN1A	1538	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	2.452e-05	2	not provided	unknown	NA	NA	0	0	VariationID_496120
SCN1A:1538:V:I	SCN1A	1538	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	unknown	DM	2.452e-05	2	Dravet syndrome	unknown	NA	NA	0	0	18930999,24066114
SCN1A:1539:T:P	SCN1A	1539	T	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18076640
SCN1A:1543:F:S	SCN1A	1543	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Focal epilepsy;not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.042e-05	3	Focal epilepsy;not specified	unknown	NA	NA	0	0	VariationID_68550
SCN1A:1543:F:S	SCN1A	1543	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Cryptogenic focal epilepsy	NA	unknown	hgmd	unknown	DM	2.042e-05	2	Cryptogenic focal epilepsy	unknown	NA	NA	0	0	17347258,24328833
SCN1A:1543:F:S	SCN1A	1543	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	2.042e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1544:D:A	SCN1A	1544	D	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1544:D:G	SCN1A	1544	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1544:D:H	SCN1A	1544	D	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_429417
SCN1A:1545:I:V	SCN1A	1545	I	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68551
SCN1A:1545:I:V	SCN1A	1545	I	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258,28202706,22409937
SCN1A:1548:M:K	SCN1A	1548	M	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:1552:C:Y	SCN1A	1552	C	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26438699
SCN1A:1555:M:R	SCN1A	1555	M	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1556:V:D	SCN1A	1556	V	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_93654
SCN1A:1558:M:I	SCN1A	1558	M	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206842
SCN1A:1559:M:T	SCN1A	1559	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1561:E:K	SCN1A	1561	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1575:R:C	SCN1A	1575	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	7.745e-05	0	not provided;not specified	unknown	NA	NA	0	0	VariationID_68636
SCN1A:1575:R:C	SCN1A	1575	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Rasmussen encephalitis	NA	unknown	hgmd	unknown	DM	7.745e-05	2	Rasmussen encephalitis	unknown	NA	NA	0	0	18031552,20675100,21868258,22309220,23195492
SCN1A:1575:R:H	SCN1A	1575	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002364	0	Early infantile epileptic encephalopathy;not specified	unknown	NA	NA	0	0	VariationID_206845
SCN1A:1575:R:H	SCN1A	1575	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.0002364	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1576:I:T	SCN1A	1576	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Phenotype modifier	NA	unknown	hgmd	unknown	DM	0	1	Phenotype modifier	maf_pathogenic	NA	NA	0	0	25986186
SCN1A:1579:V:E	SCN1A	1579	V	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1582:V:L	SCN1A	1582	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206846
SCN1A:1586:G:E	SCN1A	1586	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68637
SCN1A:1586:G:E	SCN1A	1586	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1587:E:Q	SCN1A	1587	E	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	de novo	lof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN1A:1587:E:Q	SCN1A	1587	E	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1588:C:R	SCN1A	1588	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68552
SCN1A:1588:C:R	SCN1A	1588	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17561957
SCN1A:1588:C:R	SCN1A	1588	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1588:C:Y	SCN1A	1588	C	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461276
SCN1A:1589:V:G	SCN1A	1589	V	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189998
SCN1A:1589:V:G	SCN1A	1589	V	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:1589:V:L	SCN1A	1589	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206848
SCN1A:1592:L:H	SCN1A	1592	L	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome B	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome B	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1592:L:P	SCN1A	1592	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1594:S:Y	SCN1A	1594	S	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Abnormality of the nervous system	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Abnormality of the nervous system	maf_pathogenic	NA	NA	0	1	26633542
SCN1A:1596:R:C	SCN1A	1596	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Focal epilepsy;not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	3	Focal epilepsy;not provided	maf_pathogenic	NA	NA	0	1	VariationID_68553
SCN1A:1596:R:C	SCN1A	1596	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Cryptogenic focal epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cryptogenic focal epilepsy	maf_pathogenic	NA	NA	0	1	17347258,28202706,23527921,17903680,26188943,24328833,27781031
SCN1A:1596:R:C	SCN1A	1596	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	EE_E	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	1	1	29942082
SCN1A:1596:R:H	SCN1A	1596	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	4.083e-06	0	not provided;not specified	maf_pathogenic	NA	NA	0	0	VariationID_448255
SCN1A:1596:R:H	SCN1A	1596	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	4.083e-06	1	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	0	21248271,26188943
SCN1A:1596:R:L	SCN1A	1596	R	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1597:H:R	SCN1A	1597	H	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	22944210
SCN1A:1598:Y:F	SCN1A	1598	Y	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	8.167e-06	2	not provided	unknown	NA	NA	0	0	VariationID_206850
SCN1A:1598:Y:F	SCN1A	1598	Y	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	8.167e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1605:N:I	SCN1A	1605	N	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_375515
SCN1A:1605:N:I	SCN1A	1605	N	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	27864847
SCN1A:1605:N:S	SCN1A	1605	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome B	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome B	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1608:D:G	SCN1A	1608	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1608:D:Y	SCN1A	1608	D	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Delayed speech and language development;Seizures;Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Delayed speech and language development;Seizures;Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68554
SCN1A:1608:D:Y	SCN1A	1608	D	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17561957,24168886
SCN1A:1611:V:F	SCN1A	1611	V	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	Pathogenic	0	1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_12895
SCN1A:1611:V:F	SCN1A	1611	V	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275,16210358
SCN1A:1612:V:I	SCN1A	1612	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Likely benign	0.0001692	2	Early infantile epileptic encephalopathy;Severe myoclonic epilepsy in infancy	unknown	NA	NA	0	0	VariationID_68638
SCN1A:1612:V:I	SCN1A	1612	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	unknown	DM	0.0001692	2	Dravet syndrome	unknown	NA	NA	0	0	18930999
SCN1A:1612:V:I	SCN1A	1612	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.0001692	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1616:I:T	SCN1A	1616	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	18076640
SCN1A:1618:G:S	SCN1A	1618	G	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1619:M:V	SCN1A	1619	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0005132	0	Early infantile epileptic encephalopathy;not specified	unknown	NA	NA	0	0	VariationID_206851
SCN1A:1619:M:V	SCN1A	1619	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intractable epilepsy	NA	unknown	hgmd	unknown	DM	0.0005132	2	Intractable epilepsy	unknown	NA	NA	0	0	23195492
SCN1A:1619:M:V	SCN1A	1619	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.0005132	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1620:F:V	SCN1A	1620	F	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28202706
SCN1A:1624:L:P	SCN1A	1624	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	26763045,26763045
SCN1A:1630:V:G	SCN1A	1630	V	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	27465585
SCN1A:1630:V:L	SCN1A	1630	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy%2C borderline	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy%2C borderline	maf_pathogenic	NA	NA	0	1	23195492,22092154
SCN1A:1630:V:M	SCN1A	1630	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	segr_w_disease	lof	Heyneetal_GiM19_DNV	unknown	unknown	NA	NA	NA	NA	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1630:V:M	SCN1A	1630	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68556
SCN1A:1630:V:M	SCN1A	1630	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17561957
SCN1A:1630:V:M	SCN1A	1630	V	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1632:P:S	SCN1A	1632	P	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68639
SCN1A:1632:P:S	SCN1A	1632	P	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275,16210358
SCN1A:1635:F:L	SCN1A	1635	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Febrile seizures/febrile seizures plus and generalized seizures	NA	unknown	hgmd	unknown	DM	0	1	Febrile seizures/febrile seizures plus and generalized seizures	maf_pathogenic	NA	NA	0	0	28842445
SCN1A:1636:R:Q	SCN1A	1636	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Early infantile epileptic encephalopathy;Epileptic encephalopathy Lennox-Gastaut type;Generalized epilepsy with febrile seizures plus, type 2;Inborn genetic diseases;Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68557
SCN1A:1636:R:Q	SCN1A	1636	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Lennox-Gastaut syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Lennox-Gastaut syndrome	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:1636:R:Q	SCN1A	1636	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1637:V:E	SCN1A	1637	V	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	unknown	not provided	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_68640
SCN1A:1637:V:E	SCN1A	1637	V	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Hepatic coma	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Hepatic coma	maf_pathogenic	NA	NA	0	1	20392657
SCN1A:1638:I:N	SCN1A	1638	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_381568
SCN1A:1638:I:N	SCN1A	1638	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1638:I:T	SCN1A	1638	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1639:R:G	SCN1A	1639	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1639:R:P	SCN1A	1639	R	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206852
SCN1A:1640:L:F	SCN1A	1640	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448256
SCN1A:1642:R:M	SCN1A	1642	R	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	25459968
SCN1A:1642:R:S	SCN1A	1642	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_429766
SCN1A:1642:R:S	SCN1A	1642	R	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1644:G:D	SCN1A	1644	G	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206853
SCN1A:1645:R:P	SCN1A	1645	R	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_190005
SCN1A:1645:R:P	SCN1A	1645	R	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:1645:R:Q	SCN1A	1645	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	4.063e-06	3	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68558
SCN1A:1645:R:Q	SCN1A	1645	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	4.063e-06	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258,27864847
SCN1A:1648:R:C	SCN1A	1648	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68641
SCN1A:1648:R:C	SCN1A	1648	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12083760,15263074,23086956
SCN1A:1648:R:H	SCN1A	1648	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_12882
SCN1A:1648:R:H	SCN1A	1648	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus 2	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus 2	maf_pathogenic	NA	NA	0	1	10742094,11118488,28717674,20522430,25378155,12086636,26410685,20100831,23311867,27267376,14702334,11567038
SCN1A:1648:R:H	SCN1A	1648	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1648:R:L	SCN1A	1648	R	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206854
SCN1A:1649:L:Q	SCN1A	1649	L	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	17397047,28717674,24101488,18621678
SCN1A:1651:K:T	SCN1A	1651	K	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448257
SCN1A:1653:A:E	SCN1A	1653	A	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome B	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome B	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1656:I:M	SCN1A	1656	I	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus, type 2	NA	unknown	clinvar	unknown	Pathogenic	0	1	Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus, type 2	maf_pathogenic	NA	NA	0	0	VariationID_12886
SCN1A:1656:I:M	SCN1A	1656	I	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	11254444,28717674,23945787,14672992
SCN1A:1656:I:S	SCN1A	1656	I	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	27236449
SCN1A:1657:R:C	SCN1A	1657	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1	NA	unknown	clinvar	unknown	not provided	0	1	Generalized epilepsy with febrile seizures plus, type 1	maf_pathogenic	NA	NA	0	0	VariationID_68642
SCN1A:1657:R:C	SCN1A	1657	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	14672992
SCN1A:1657:R:H	SCN1A	1657	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Focal epilepsy	NA	unknown	clinvar	unknown	not provided	0	1	Focal epilepsy	maf_pathogenic	NA	NA	0	0	VariationID_68559
SCN1A:1657:R:H	SCN1A	1657	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Cryptogenic focal epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cryptogenic focal epilepsy	maf_pathogenic	NA	NA	0	1	17347258,21719429
SCN1A:1658:T:M	SCN1A	1658	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Early infantile epileptic encephalopathy;Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68643
SCN1A:1658:T:M	SCN1A	1658	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999,20522430
SCN1A:1658:T:M	SCN1A	1658	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1658:T:P	SCN1A	1658	T	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_420883
SCN1A:1658:T:R	SCN1A	1658	T	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68560
SCN1A:1658:T:R	SCN1A	1658	T	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17561957
SCN1A:1659:L:M	SCN1A	1659	L	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:1660:L:P	SCN1A	1660	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_429924
SCN1A:1660:L:P	SCN1A	1660	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271,23895530
SCN1A:1661:F:L	SCN1A	1661	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	24707016,28717674
SCN1A:1661:F:S	SCN1A	1661	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68644
SCN1A:1661:F:S	SCN1A	1661	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12754708,15263074,23086956
SCN1A:1662:A:V	SCN1A	1662	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_190011
SCN1A:1662:A:V	SCN1A	1662	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy%2C borderline	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy%2C borderline	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1664:M:K	SCN1A	1664	M	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68645
SCN1A:1664:M:K	SCN1A	1664	M	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999,25576396,20522430
SCN1A:1664:M:T	SCN1A	1664	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	VariationID_408926
SCN1A:1665:M:I	SCN1A	1665	M	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206855
SCN1A:1666:S:F	SCN1A	1666	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189922
SCN1A:1666:S:F	SCN1A	1666	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:1667:L:F	SCN1A	1667	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206856
SCN1A:1667:L:P	SCN1A	1667	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_430088
SCN1A:1667:L:P	SCN1A	1667	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271,23195492
SCN1A:1668:P:A	SCN1A	1668	P	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68561
SCN1A:1668:P:A	SCN1A	1668	P	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12821740
SCN1A:1668:P:L	SCN1A	1668	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome B	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome B	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1668:P:R	SCN1A	1668	P	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189845
SCN1A:1668:P:R	SCN1A	1668	P	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:1669:A:E	SCN1A	1669	A	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	Pathogenic	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_29883
SCN1A:1669:A:E	SCN1A	1669	A	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Partial seizures of infancy%2C malignant migrating	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Partial seizures of infancy%2C malignant migrating	maf_pathogenic	NA	NA	0	1	21555645
SCN1A:1669:A:T	SCN1A	1669	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Developmental delay%2C poor coordination & seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Developmental delay%2C poor coordination & seizures	maf_pathogenic	NA	NA	0	1	27113213
SCN1A:1670:L:W	SCN1A	1670	L	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Hemiplegic migraine	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hemiplegic migraine	maf_pathogenic	NA	NA	1	1	27919014
SCN1A:1672:N:H	SCN1A	1672	N	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189897
SCN1A:1672:N:H	SCN1A	1672	N	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:1672:N:I	SCN1A	1672	N	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1673:I:N	SCN1A	1673	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:1673:I:S	SCN1A	1673	I	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	26339958
SCN1A:1673:I:T	SCN1A	1673	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1674:G:R	SCN1A	1674	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68646
SCN1A:1674:G:R	SCN1A	1674	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12083760,15263074,23086956
SCN1A:1674:G:S	SCN1A	1674	G	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Acute encephalopathy with biphasic seizures & late reduced diffusion	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Acute encephalopathy with biphasic seizures & late reduced diffusion	maf_pathogenic	NA	NA	0	1	26311622
SCN1A:1675:L:R	SCN1A	1675	L	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1677:L:F	SCN1A	1677	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999,23195492
SCN1A:1680:V:D	SCN1A	1680	V	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	VariationID_461278
SCN1A:1683:I:F	SCN1A	1683	I	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy	NA	unknown	hgmd	unknown	DM	0	1	Epilepsy	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1683:I:T	SCN1A	1683	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271,23195492
SCN1A:1684:Y:D	SCN1A	1684	Y	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1684:Y:S	SCN1A	1684	Y	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intractable epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intractable epilepsy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1685:A:D	SCN1A	1685	A	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68647
SCN1A:1685:A:D	SCN1A	1685	A	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275,22525008
SCN1A:1685:A:P	SCN1A	1685	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_420824
SCN1A:1685:A:S	SCN1A	1685	A	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	4.065e-06	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_391762
SCN1A:1685:A:V	SCN1A	1685	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1	NA	unknown	clinvar	unknown	not provided	0	1	Generalized epilepsy with febrile seizures plus, type 1	maf_pathogenic	NA	NA	0	0	VariationID_68648
SCN1A:1685:A:V	SCN1A	1685	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Febrile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Febrile seizures	maf_pathogenic	NA	NA	0	1	11524484,28717674,11823106,14672992,22525008
SCN1A:1687:F:S	SCN1A	1687	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1	NA	unknown	clinvar	unknown	not provided	0	1	Generalized epilepsy with febrile seizures plus, type 1	maf_pathogenic	NA	NA	0	0	VariationID_68562
SCN1A:1687:F:S	SCN1A	1687	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17561957,28202706
SCN1A:1688:G:V	SCN1A	1688	G	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_190026
SCN1A:1688:G:V	SCN1A	1688	G	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:1688:G:W	SCN1A	1688	G	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1689:M:R	SCN1A	1689	M	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:1692:F:S	SCN1A	1692	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68649
SCN1A:1692:F:S	SCN1A	1692	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	14738421
SCN1A:1694:Y:C	SCN1A	1694	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	3	Early infantile epileptic encephalopathy;Severe myoclonic epilepsy in infancy;not specified	maf_pathogenic	NA	NA	0	0	VariationID_68650
SCN1A:1694:Y:C	SCN1A	1694	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	14738421,28202706
SCN1A:1694:Y:C	SCN1A	1694	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1702:D:E	SCN1A	1702	D	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189970
SCN1A:1702:D:E	SCN1A	1702	D	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:1702:D:H	SCN1A	1702	D	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:1702:D:Y	SCN1A	1702	D	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206857
SCN1A:1703:D:V	SCN1A	1703	D	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189966
SCN1A:1703:D:V	SCN1A	1703	D	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:1703:D:Y	SCN1A	1703	D	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:1706:N:T	SCN1A	1706	N	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_496122
SCN1A:1707:F:L	SCN1A	1707	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206858
SCN1A:1707:F:L	SCN1A	1707	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_421189
SCN1A:1707:F:V	SCN1A	1707	F	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68563
SCN1A:1707:F:V	SCN1A	1707	F	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258,22409937
SCN1A:1709:T:I	SCN1A	1709	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	Pathogenic	0	1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_12894
SCN1A:1709:T:I	SCN1A	1709	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275,16210358
SCN1A:1709:T:N	SCN1A	1709	T	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:1711:G:S	SCN1A	1711	G	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206943
SCN1A:1712:N:K	SCN1A	1712	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:1713:S:N	SCN1A	1713	S	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68651
SCN1A:1713:S:N	SCN1A	1713	S	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	16122630
SCN1A:1714:M:K	SCN1A	1714	M	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1714:M:R	SCN1A	1714	M	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68564
SCN1A:1714:M:R	SCN1A	1714	M	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684
SCN1A:1714:M:T	SCN1A	1714	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_93656
SCN1A:1716:C:R	SCN1A	1716	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68565
SCN1A:1716:C:R	SCN1A	1716	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17561957
SCN1A:1717:L:P	SCN1A	1717	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	23762420
SCN1A:1717:L:P	SCN1A	1717	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1718:F:S	SCN1A	1718	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_430125
SCN1A:1721:T:K	SCN1A	1721	T	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206859
SCN1A:1721:T:K	SCN1A	1721	T	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Seizures	maf_pathogenic	NA	NA	0	1	26633542
SCN1A:1721:T:R	SCN1A	1721	T	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68566
SCN1A:1721:T:R	SCN1A	1721	T	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:1722:T:A	SCN1A	1722	T	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_449130
SCN1A:1722:T:A	SCN1A	1722	T	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26438699
SCN1A:1723:S:F	SCN1A	1723	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206944
SCN1A:1723:S:P	SCN1A	1723	S	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461279
SCN1A:1724:A:P	SCN1A	1724	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intractable epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intractable epilepsy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1724:A:T	SCN1A	1724	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:1725:G:C	SCN1A	1725	G	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1725:G:D	SCN1A	1725	G	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	VariationID_461280
SCN1A:1726:W:R	SCN1A	1726	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68848
SCN1A:1726:W:R	SCN1A	1726	W	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258
SCN1A:1727:D:G	SCN1A	1727	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1729:L:W	SCN1A	1729	L	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:1730:L:P	SCN1A	1730	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206945
SCN1A:1731:A:P	SCN1A	1731	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:1732:P:L	SCN1A	1732	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	27465585
SCN1A:1739:P:L	SCN1A	1739	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	0	1	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1740:D:N	SCN1A	1740	D	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206861
SCN1A:1740:D:N	SCN1A	1740	D	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Febrile seizures/febrile seizures plus and focal seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Febrile seizures/febrile seizures plus and focal seizures	maf_pathogenic	NA	NA	0	1	28842445
SCN1A:1741:C:R	SCN1A	1741	C	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1741:C:S	SCN1A	1741	C	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Lennox-Gastaut syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Lennox-Gastaut syndrome	maf_pathogenic	NA	NA	0	1	23934111
SCN1A:1741:C:S	SCN1A	1741	C	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	EE_E	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	1	1	29942082
SCN1A:1741:C:Y	SCN1A	1741	C	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_189926
SCN1A:1741:C:Y	SCN1A	1741	C	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:1742:D:G	SCN1A	1742	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1	NA	unknown	clinvar	unknown	not provided	0	1	Generalized epilepsy with febrile seizures plus, type 1	maf_pathogenic	NA	NA	0	0	VariationID_68653
SCN1A:1742:D:G	SCN1A	1742	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	15694566
SCN1A:1742:D:V	SCN1A	1742	D	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome%2C late-onset	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome%2C late-onset	maf_pathogenic	NA	NA	1	1	27236449
SCN1A:1744:N:D	SCN1A	1744	N	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	22944210
SCN1A:1749:G:E	SCN1A	1749	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68654
SCN1A:1749:G:E	SCN1A	1749	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12754708,15263074,23086956
SCN1A:1749:G:R	SCN1A	1749	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_373157
SCN1A:1754:G:R	SCN1A	1754	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	22071555
SCN1A:1754:G:V	SCN1A	1754	G	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206862
SCN1A:1755:D:G	SCN1A	1755	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189876
SCN1A:1755:D:G	SCN1A	1755	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26252084
SCN1A:1756:C:G	SCN1A	1756	C	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68655
SCN1A:1756:C:G	SCN1A	1756	C	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	19563458
SCN1A:1757:G:E	SCN1A	1757	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_427057
SCN1A:1757:G:R	SCN1A	1757	G	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	27465585
SCN1A:1759:P:S	SCN1A	1759	P	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_420677
SCN1A:1761:V:A	SCN1A	1761	V	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_373148
SCN1A:1762:G:E	SCN1A	1762	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68567
SCN1A:1762:G:E	SCN1A	1762	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684
SCN1A:1763:I:F	SCN1A	1763	I	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1763:I:N	SCN1A	1763	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1764:F:Y	SCN1A	1764	F	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206863
SCN1A:1765:F:C	SCN1A	1765	F	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_452613
SCN1A:1765:F:L	SCN1A	1765	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Partial epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Partial epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	20550552
SCN1A:1769:Y:C	SCN1A	1769	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Inborn genetic diseases;not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Inborn genetic diseases;not provided	maf_pathogenic	NA	NA	0	0	VariationID_265303
SCN1A:1769:Y:H	SCN1A	1769	Y	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	18076640
SCN1A:1770:I:N	SCN1A	1770	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy	NA	unknown	hgmd	unknown	DM	0	1	Epilepsy	maf_pathogenic	NA	NA	0	0	21426328
SCN1A:1770:I:T	SCN1A	1770	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome B	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome B	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1771:I:F	SCN1A	1771	I	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Cryptogenic focal epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Cryptogenic focal epilepsy	maf_pathogenic	NA	NA	0	1	18330841,23195492
SCN1A:1771:I:N	SCN1A	1771	I	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1773:S:F	SCN1A	1773	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68568
SCN1A:1773:S:F	SCN1A	1773	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17054684
SCN1A:1773:S:Y	SCN1A	1773	S	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	VariationID_408934
SCN1A:1775:L:P	SCN1A	1775	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28525652
SCN1A:1776:V:F	SCN1A	1776	V	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:1776:V:I	SCN1A	1776	V	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206946
SCN1A:1777:V:A	SCN1A	1777	V	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1779:N:D	SCN1A	1779	N	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_195946
SCN1A:1779:N:S	SCN1A	1779	N	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_212119
SCN1A:1780:M:T	SCN1A	1780	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68569
SCN1A:1780:M:T	SCN1A	1780	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12821740
SCN1A:1780:M:V	SCN1A	1780	M	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_427080
SCN1A:1781:Y:C	SCN1A	1781	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68657
SCN1A:1781:Y:C	SCN1A	1781	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	14738421,23195492
SCN1A:1781:Y:H	SCN1A	1781	Y	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1781:Y:N	SCN1A	1781	Y	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1782:I:M	SCN1A	1782	I	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68659
SCN1A:1782:I:M	SCN1A	1782	I	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999,20522430
SCN1A:1782:I:S	SCN1A	1782	I	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1783:A:T	SCN1A	1783	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68570
SCN1A:1783:A:T	SCN1A	1783	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258,23808377,21703448
SCN1A:1783:A:T	SCN1A	1783	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1783:A:V	SCN1A	1783	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68571
SCN1A:1783:A:V	SCN1A	1783	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17561957,21703448
SCN1A:1784:V:A	SCN1A	1784	V	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	Likely pathogenic	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_374394
SCN1A:1784:V:D	SCN1A	1784	V	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	Uncertain significance	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_488186
SCN1A:1787:E:D	SCN1A	1787	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206864
SCN1A:1787:E:K	SCN1A	1787	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68572
SCN1A:1787:E:K	SCN1A	1787	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17561957
SCN1A:1792:A:D	SCN1A	1792	A	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_427073
SCN1A:1792:A:G	SCN1A	1792	A	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	23808377
SCN1A:1792:A:T	SCN1A	1792	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1795:E:K	SCN1A	1795	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 1;not specified	maf_pathogenic	NA	NA	0	0	VariationID_68660
SCN1A:1795:E:K	SCN1A	1795	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	20600615
SCN1A:1795:E:Q	SCN1A	1795	E	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_427075
SCN1A:1797:A:P	SCN1A	1797	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_195940
SCN1A:1802:E:K	SCN1A	1802	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1803:D:N	SCN1A	1803	D	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_496123
SCN1A:1808:F:I	SCN1A	1808	F	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1808:F:I	SCN1A	1808	F	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1808:F:L	SCN1A	1808	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68661
SCN1A:1808:F:L	SCN1A	1808	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275,28102150,16210358
SCN1A:1812:W:G	SCN1A	1812	W	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Seizures;Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	3	Seizures;Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68662
SCN1A:1812:W:G	SCN1A	1812	W	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275
SCN1A:1812:W:S	SCN1A	1812	W	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1816:D:G	SCN1A	1816	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1819:A:S	SCN1A	1819	A	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28202706
SCN1A:1823:M:R	SCN1A	1823	M	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:1823:M:T	SCN1A	1823	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	unknown	DM	0	1	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	0	24679980
SCN1A:1828:L:S	SCN1A	1828	L	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_429798
SCN1A:1831:F:C	SCN1A	1831	F	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_419333
SCN1A:1831:F:S	SCN1A	1831	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68663
SCN1A:1831:F:S	SCN1A	1831	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12566275,24679980
SCN1A:1832:A:E	SCN1A	1832	A	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1832:A:P	SCN1A	1832	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1834:A:V	SCN1A	1834	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.142e-06	2	not specified	unknown	NA	NA	0	0	VariationID_206867
SCN1A:1834:A:V	SCN1A	1834	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intellectual disability%2C autosomal recessive	NA	unknown	hgmd	unknown	DM	8.142e-06	2	Intellectual disability%2C autosomal recessive	unknown	NA	NA	0	0	27457812
SCN1A:1835:L:F	SCN1A	1835	L	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	18930999
SCN1A:1837:P:L	SCN1A	1837	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.448e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206868
SCN1A:1837:P:S	SCN1A	1837	P	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26183863
SCN1A:1838:P:R	SCN1A	1838	P	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448258
SCN1A:1839:L:P	SCN1A	1839	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26438699
SCN1A:1839:L:V	SCN1A	1839	L	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189965
SCN1A:1839:L:V	SCN1A	1839	L	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	24168886
SCN1A:1845:N:T	SCN1A	1845	N	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome	maf_pathogenic	NA	NA	0	0	28186331
SCN1A:1852:M:I	SCN1A	1852	M	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1852:M:K	SCN1A	1852	M	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1852:M:T	SCN1A	1852	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1;Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Generalized epilepsy with febrile seizures plus, type 1;Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_68664
SCN1A:1852:M:T	SCN1A	1852	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	12919402,26096185
SCN1A:1853:D:H	SCN1A	1853	D	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_195944
SCN1A:1855:P:L	SCN1A	1855	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_372740
SCN1A:1855:P:L	SCN1A	1855	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	0	1	Dravet syndrome C	maf_pathogenic	NA	NA	0	0	21248271
SCN1A:1855:P:S	SCN1A	1855	P	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	4.074e-06	0	not provided;not specified	maf_pathogenic	NA	NA	0	0	VariationID_195945
SCN1A:1856:M:I	SCN1A	1856	M	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001018	3	not specified	unknown	NA	NA	0	0	VariationID_206871
SCN1A:1856:M:K	SCN1A	1856	M	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206869
SCN1A:1856:M:T	SCN1A	1856	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206870
SCN1A:1856:M:T	SCN1A	1856	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	18076640
SCN1A:1857:V:L	SCN1A	1857	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1	NA	unknown	clinvar	unknown	not provided	0	1	Generalized epilepsy with febrile seizures plus, type 1	maf_pathogenic	NA	NA	0	0	VariationID_68665
SCN1A:1857:V:L	SCN1A	1857	V	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus 2	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus 2	maf_pathogenic	NA	NA	0	1	15715999
SCN1A:1861:R:Q	SCN1A	1861	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_421612
SCN1A:1861:R:W	SCN1A	1861	R	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Intractable epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intractable epilepsy	maf_pathogenic	NA	NA	0	1	23195492
SCN1A:1866:D:G	SCN1A	1866	D	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28012175
SCN1A:1866:D:Y	SCN1A	1866	D	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus, type 1	NA	unknown	clinvar	unknown	not provided	0	1	Generalized epilepsy with febrile seizures plus, type 1	maf_pathogenic	NA	NA	0	0	VariationID_68666
SCN1A:1866:D:Y	SCN1A	1866	D	Y	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	15525788
SCN1A:1867:I:T	SCN1A	1867	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_430087
SCN1A:1867:I:T	SCN1A	1867	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	18251839
SCN1A:1869:F:S	SCN1A	1869	F	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_502634
SCN1A:1874:R:Q	SCN1A	1874	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_408927
SCN1A:1874:R:W	SCN1A	1874	R	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206873
SCN1A:1876:L:P	SCN1A	1876	L	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206874
SCN1A:1877:G:V	SCN1A	1877	G	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	28442529
SCN1A:1878:E:Q	SCN1A	1878	E	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.223e-05	3	not specified	unknown	NA	NA	0	0	VariationID_432633
SCN1A:1878:E:Q	SCN1A	1878	E	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	1.223e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1880:G:E	SCN1A	1880	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided;not specified	NA	unknown	clinvar	unknown	Uncertain significance	7.34e-05	3	not provided;not specified	unknown	NA	NA	0	0	VariationID_206875
SCN1A:1880:G:E	SCN1A	1880	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome C	NA	lof	hgmd	unknown	DM	7.34e-05	1	Dravet syndrome C	unknown	NA	NA	0	0	21248271
SCN1A:1880:G:E	SCN1A	1880	G	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	7.34e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1881:E:D	SCN1A	1881	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	unknown	not provided	0	1	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	0	0	VariationID_68667
SCN1A:1881:E:D	SCN1A	1881	E	D	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	14504318,22409937
SCN1A:1881:E:K	SCN1A	1881	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	22071555
SCN1A:1884:A:V	SCN1A	1884	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1886:R:Q	SCN1A	1886	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	23398550
SCN1A:1892:R:G	SCN1A	1892	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy%2C focal	NA	unknown	hgmd	unknown	DM	0	1	Epilepsy%2C focal	maf_pathogenic	NA	NA	0	0	26802095
SCN1A:1893:F:L	SCN1A	1893	F	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_426562
SCN1A:1894:M:T	SCN1A	1894	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.52e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206876
SCN1A:1894:M:T	SCN1A	1894	M	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	6.52e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1897:N:K	SCN1A	1897	N	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1905:P:L	SCN1A	1905	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Autism spectrum disorder	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Autism spectrum disorder	maf_pathogenic	NA	NA	0	1	21572417
SCN1A:1905:P:L	SCN1A	1905	P	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	ASD_E	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ASD_E	maf_pathogenic	NA	NA	1	1	29942082
SCN1A:1909:T:A	SCN1A	1909	T	A	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	28202706
SCN1A:1909:T:I	SCN1A	1909	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68669
SCN1A:1909:T:I	SCN1A	1909	T	I	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	12083760,17054685
SCN1A:1912:R:Q	SCN1A	1912	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	8.144e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1915:E:K	SCN1A	1915	E	K	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206877
SCN1A:1918:S:F	SCN1A	1918	S	F	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206880
SCN1A:1919:A:P	SCN1A	1919	A	P	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206949
SCN1A:1922:I:S	SCN1A	1922	I	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_408935
SCN1A:1922:I:S	SCN1A	1922	I	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DD_E	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	1	1	29942082
SCN1A:1922:I:T	SCN1A	1922	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy;not provided	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Severe myoclonic epilepsy in infancy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_68573
SCN1A:1922:I:T	SCN1A	1922	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myoclonic epilepsy of infancy	maf_pathogenic	NA	NA	0	1	17347258,23895530
SCN1A:1923:Q:R	SCN1A	1923	Q	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Partial epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Partial epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	22151702,23773995,26731440
SCN1A:1924:R:H	SCN1A	1924	R	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.147e-06	2	not specified	unknown	NA	NA	0	0	VariationID_206881
SCN1A:1925:A:T	SCN1A	1925	A	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Febrile seizures plus	NA	unknown	hgmd	unknown	DM	1.63e-05	2	Febrile seizures plus	unknown	NA	NA	0	0	27781031
SCN1A:1926:Y:C	SCN1A	1926	Y	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.074e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_449673
SCN1A:1927:R:G	SCN1A	1927	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus	maf_pathogenic	NA	NA	0	1	23160955
SCN1A:1927:R:G	SCN1A	1927	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	ASD_E	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ASD_E	maf_pathogenic	NA	NA	1	1	29942082
SCN1A:1927:R:T	SCN1A	1927	R	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Severe myoclonic epilepsy in infancy	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Severe myoclonic epilepsy in infancy	maf_pathogenic	NA	NA	1	1	VariationID_189893
SCN1A:1927:R:T	SCN1A	1927	R	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	1	1	26096185
SCN1A:1928:R:C	SCN1A	1928	R	C	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.63e-05	2	not specified	unknown	NA	NA	0	0	VariationID_93659
SCN1A:1928:R:G	SCN1A	1928	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Benign/Likely benign	0.001332	3	Early infantile epileptic encephalopathy;Familial hemiplegic migraine;Seizure Disorders;not provided;not specified	unknown	NA	NA	0	0	VariationID_68574
SCN1A:1928:R:G	SCN1A	1928	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	unknown	DM	0.001332	2	Myoclonic epilepsy of infancy	unknown	NA	NA	0	0	18413471,28202706,26990884
SCN1A:1928:R:G	SCN1A	1928	R	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.001332	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1929:H:Q	SCN1A	1929	H	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_408919
SCN1A:1933:R:L	SCN1A	1933	R	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	1.223e-05	2	Early infantile epileptic encephalopathy	unknown	NA	NA	0	0	VariationID_238605
SCN1A:1936:K:E	SCN1A	1936	K	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206882
SCN1A:1937:Q:E	SCN1A	1937	Q	E	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_450573
SCN1A:1937:Q:R	SCN1A	1937	Q	R	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Generalized epilepsy with febrile seizures plus 2	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Generalized epilepsy with febrile seizures plus 2	maf_pathogenic	NA	NA	0	1	27236449
SCN1A:1941:T:M	SCN1A	1941	T	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.446e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206883
SCN1A:1951:A:S	SCN1A	1951	A	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.222e-05	2	not specified	unknown	NA	NA	0	0	VariationID_423837
SCN1A:1951:A:S	SCN1A	1951	A	S	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Dravet syndrome	NA	lof	hgmd	unknown	DM	1.222e-05	2	Dravet syndrome	unknown	NA	NA	0	0	28202706
SCN1A:1951:A:V	SCN1A	1951	A	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.074e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_393163
SCN1A:1955:I:M	SCN1A	1955	I	M	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Likely benign	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206732
SCN1A:1955:I:T	SCN1A	1955	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Benign/Likely benign	0.001886	3	Early infantile epileptic encephalopathy;Familial hemiplegic migraine;Seizure Disorders;not provided;not specified	unknown	NA	NA	0	0	VariationID_93660
SCN1A:1955:I:T	SCN1A	1955	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Autism	NA	unknown	hgmd	unknown	DM	0.001886	1	Autism	unknown	NA	NA	0	0	12610651,22011963
SCN1A:1955:I:T	SCN1A	1955	I	T	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.001886	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1957:E:G	SCN1A	1957	E	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	epileptic_encephalopathy	NA	lof	clinvar	unknown	Uncertain significance	0.0001303	3	Early infantile epileptic encephalopathy;West syndrome;not provided;not specified	unknown	NA	NA	0	0	VariationID_68671
SCN1A:1957:E:G	SCN1A	1957	E	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Myoclonic epilepsy of infancy	NA	unknown	hgmd	unknown	DM	0.0001303	1	Myoclonic epilepsy of infancy	unknown	NA	NA	0	0	14504318,23527921
SCN1A:1957:E:G	SCN1A	1957	E	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	0.0001303	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1971:E:G	SCN1A	1971	E	G	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.036e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206885
SCN1A:1971:E:Q	SCN1A	1971	E	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_450597
SCN1A:1977:M:L	SCN1A	1977	M	L	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Acute encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Acute encephalopathy	maf_pathogenic	NA	NA	0	1	22309220
SCN1A:1984:P:H	SCN1A	1984	P	H	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001751	3	not specified	unknown	NA	NA	0	0	VariationID_93661
SCN1A:1988:R:Q	SCN1A	1988	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.222e-05	2	not specified	unknown	NA	NA	0	0	VariationID_449138
SCN1A:1988:R:Q	SCN1A	1988	R	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	DEE	NA	lof	Heyneetal_GiM19	unknown	unknown	1.222e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN1A:1988:R:W	SCN1A	1988	R	W	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Epilepsy-aphasia with febrile seizures plus	NA	unknown	hgmd	(Likely)pathogenic	DM	4.073e-06	2	Epilepsy-aphasia with febrile seizures plus	maf_pathogenic	NA	NA	0	1	23708187
SCN1A:1993:I:V	SCN1A	1993	I	V	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Likely benign	8.142e-06	2	not specified	unknown	NA	NA	0	0	VariationID_206887
SCN1A:1996:K:N	SCN1A	1996	K	N	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.221e-05	2	not specified	unknown	NA	NA	0	0	VariationID_498246
SCN1A:1998:E:Q	SCN1A	1998	E	Q	ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1	Familial hemiplegic migraine;Seizure Disorders	NA	unknown	clinvar	unknown	Uncertain significance	4.073e-06	2	Familial hemiplegic migraine;Seizure Disorders	maf_pathogenic	NA	NA	0	0	VariationID_331880
SCN2A:8:P:L	SCN2A	8	P	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.159e-06	2	not specified	unknown	NA	NA	0	0	VariationID_207031
SCN2A:12:D:N	SCN2A	12	D	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	27824329,28256214
SCN2A:12:D:N	SCN2A	12	D	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:12:D:N	SCN2A	12	D	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	ASD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ASD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:19:R:K	SCN2A	19	R	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Benign/Likely benign	0.08424	3	Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant;not specified	unknown	NA	NA	0	0	VariationID_130224
SCN2A:24:A:T	SCN2A	24	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Likely benign	0.0004598	2	not specified	unknown	NA	NA	0	0	VariationID_207032
SCN2A:28:R:C	SCN2A	28	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002522	0	Benign familial neonatal-infantile seizures;Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Early infantile epileptic encephalopathy 11;not specified	unknown	NA	NA	0	0	VariationID_207033
SCN2A:28:R:C	SCN2A	28	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0.0002522	2	Autism spectrum disorder	unknown	NA	NA	0	0	23849776,27733563
SCN2A:28:R:C	SCN2A	28	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	unknown	unknown	0.0002522	unknown	DEE	unknown	NA	NA	0	0	28379373
SCN2A:28:R:C	SCN2A	28	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002522	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:34:A:T	SCN2A	34	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0006956	0	Benign familial neonatal-infantile seizures;Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Early infantile epileptic encephalopathy 11;not specified	unknown	NA	NA	0	0	VariationID_207034
SCN2A:34:A:T	SCN2A	34	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	unknown	unknown	0.0006956	unknown	DEE	unknown	NA	NA	0	0	28379373
SCN2A:34:A:T	SCN2A	34	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0006956	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:34:A:V	SCN2A	34	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_521180
SCN2A:36:R:G	SCN2A	36	R	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.066e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207035
SCN2A:36:R:G	SCN2A	36	R	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Seizures%2C benign infantile	NA	unknown	hgmd	(Likely)pathogenic	DM	4.066e-06	2	Seizures%2C benign infantile	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:36:R:G	SCN2A	36	R	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	4.066e-06	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:36:R:G	SCN2A	36	R	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	4.066e-06	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:45:D:E	SCN2A	45	D	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:45:D:V	SCN2A	45	D	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:50:P:S	SCN2A	50	P	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:50:P:S	SCN2A	50	P	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:63:P:S	SCN2A	63	P	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_425217
SCN2A:63:P:S	SCN2A	63	P	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:65:I:V	SCN2A	65	I	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:82:D:G	SCN2A	82	D	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	27824329,28256214
SCN2A:82:D:G	SCN2A	82	D	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:102:R:Q	SCN2A	102	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_422127
SCN2A:102:R:Q	SCN2A	102	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:104:S:N	SCN2A	104	S	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_444524
SCN2A:132:N:K	SCN2A	132	N	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset	maf_pathogenic	NA	NA	0	1	24659627
SCN2A:132:N:K	SCN2A	132	N	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:136:M:I	SCN2A	136	M	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset	maf_pathogenic	NA	NA	0	1	23708187
SCN2A:136:M:I	SCN2A	136	M	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:141:T:S	SCN2A	141	T	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	0	VariationID_464910
SCN2A:169:E:G	SCN2A	169	E	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset	maf_pathogenic	NA	NA	0	1	23935176
SCN2A:169:E:G	SCN2A	169	E	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:172:I:S	SCN2A	172	I	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:172:I:V	SCN2A	172	I	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Acute encephalopathy with biphasic seizures & late reduced diffusion	NA	unknown	hgmd	unknown	DM	0	1	Acute encephalopathy with biphasic seizures & late reduced diffusion	maf_pathogenic	NA	NA	0	0	26311622
SCN2A:180:C:Y	SCN2A	180	C	Y	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_423182
SCN2A:181:L:F	SCN2A	181	L	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.066e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207038
SCN2A:185:T:I	SCN2A	185	T	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_451069
SCN2A:188:R:W	SCN2A	188	R	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Benign familial neonatal-infantile seizures	NA	unknown	clinvar	unknown	Pathogenic	2.033e-05	1	Benign familial neonatal-infantile seizures	unknown	NA	NA	0	0	VariationID_12875
SCN2A:188:R:W	SCN2A	188	R	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Febrile and afebrile seizures	NA	unknown	hgmd	unknown	DM	2.033e-05	2	Febrile and afebrile seizures	unknown	NA	NA	0	0	11371648,15301839
SCN2A:188:R:W	SCN2A	188	R	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	unknown	unknown	2.033e-05	unknown	DEE	unknown	NA	NA	0	0	28379373
SCN2A:191:W:G	SCN2A	191	W	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Focal epilepsy	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Focal epilepsy	maf_pathogenic	NA	NA	0	1	VariationID_375507
SCN2A:191:W:G	SCN2A	191	W	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Focal epilepsy%2C drug-resistant	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Focal epilepsy%2C drug-resistant	maf_pathogenic	NA	NA	0	1	27864847
SCN2A:191:W:G	SCN2A	191	W	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:197:T:P	SCN2A	197	T	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:198:V:D	SCN2A	198	V	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:201:F:S	SCN2A	201	F	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	0	VariationID_464919
SCN2A:202:A:V	SCN2A	202	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_449147
SCN2A:202:A:V	SCN2A	202	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Seizures%2C benign neonatal	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Seizures%2C benign neonatal	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:202:A:V	SCN2A	202	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:202:A:V	SCN2A	202	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:203:Y:D	SCN2A	203	Y	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_451597
SCN2A:207:F:C	SCN2A	207	F	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_423904
SCN2A:207:F:S	SCN2A	207	F	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Seizures%2C benign neonatal	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Seizures%2C benign neonatal	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:207:F:S	SCN2A	207	F	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:208:V:E	SCN2A	208	V	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Seizures%2C benign infantile	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Seizures%2C benign infantile	maf_pathogenic	NA	NA	0	1	22612257,28717674
SCN2A:208:V:E	SCN2A	208	V	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:208:V:E	SCN2A	208	V	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:208:V:M	SCN2A	208	V	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_423344
SCN2A:211:G:D	SCN2A	211	G	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	West syndrome with hypotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	West syndrome with hypotonia	maf_pathogenic	NA	NA	0	1	23662938
SCN2A:212:N:D	SCN2A	212	N	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	1	VariationID_488391
SCN2A:212:N:D	SCN2A	212	N	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Ohtahara syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Ohtahara syndrome	maf_pathogenic	NA	NA	0	1	23935176
SCN2A:212:N:D	SCN2A	212	N	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:213:V:D	SCN2A	213	V	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset	maf_pathogenic	NA	NA	0	1	23935176
SCN2A:213:V:D	SCN2A	213	V	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:213:V:D	SCN2A	213	V	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:214:S:P	SCN2A	214	S	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_372557
SCN2A:214:S:P	SCN2A	214	S	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Malignant migrating partial seizures of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Malignant migrating partial seizures of infancy	maf_pathogenic	NA	NA	0	1	27781031
SCN2A:214:S:P	SCN2A	214	S	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:215:A:P	SCN2A	215	A	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_430366
SCN2A:216:L:W	SCN2A	216	L	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207088
SCN2A:218:T:K	SCN2A	218	T	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Epilepsy of infancy with migrating focal seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy of infancy with migrating focal seizures	maf_pathogenic	NA	NA	0	1	26291284
SCN2A:218:T:K	SCN2A	218	T	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:220:R:G	SCN2A	220	R	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	25818041
SCN2A:220:R:G	SCN2A	220	R	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:220:R:G	SCN2A	220	R	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:223:R:I	SCN2A	223	R	I	NA	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_521098
SCN2A:223:R:Q	SCN2A	223	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Benign familial neonatal-infantile seizures	NA	unknown	clinvar	unknown	Pathogenic	0	1	Benign familial neonatal-infantile seizures	maf_pathogenic	NA	NA	0	0	VariationID_12879
SCN2A:223:R:Q	SCN2A	223	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	15048894,28717674
SCN2A:223:R:Q	SCN2A	223	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:227:T:I	SCN2A	227	T	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with late-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with late-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:227:T:I	SCN2A	227	T	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:229:S:A	SCN2A	229	S	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	0	VariationID_464920
SCN2A:236:T:S	SCN2A	236	T	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Ohtahara syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Ohtahara syndrome	maf_pathogenic	NA	NA	0	1	23935176
SCN2A:236:T:S	SCN2A	236	T	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:237:I:N	SCN2A	237	I	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:237:I:N	SCN2A	237	I	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:240:A:P	SCN2A	240	A	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:240:A:S	SCN2A	240	A	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Epilepsy of infancy with migrating focal seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy of infancy with migrating focal seizures	maf_pathogenic	NA	NA	0	1	26291284
SCN2A:240:A:S	SCN2A	240	A	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:240:A:T	SCN2A	240	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_421259
SCN2A:240:A:V	SCN2A	240	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_449164
SCN2A:251:V:I	SCN2A	251	V	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	VariationID_375510
SCN2A:251:V:I	SCN2A	251	V	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C neonatal	maf_pathogenic	NA	NA	0	1	27864847,28254201
SCN2A:251:V:I	SCN2A	251	V	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:252:M:V	SCN2A	252	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Benign familial neonatal-infantile seizures	NA	unknown	clinvar	unknown	Pathogenic	0	1	Benign familial neonatal-infantile seizures	maf_pathogenic	NA	NA	0	0	VariationID_29889
SCN2A:252:M:V	SCN2A	252	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	20371507
SCN2A:252:M:V	SCN2A	252	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:258:C:R	SCN2A	258	C	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:258:C:S	SCN2A	258	C	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DD_noE	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_noE	maf_pathogenic	NA	NA	1	1	29942082
SCN2A:259:L:I	SCN2A	259	L	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_421263
SCN2A:260:S:N	SCN2A	260	S	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:261:V:M	SCN2A	261	V	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_378927
SCN2A:261:V:M	SCN2A	261	V	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	20371507,28379373,27779742
SCN2A:261:V:M	SCN2A	261	V	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:261:V:M	SCN2A	261	V	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:261:V:M	SCN2A	261	V	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:263:A:E	SCN2A	263	A	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	1	VariationID_520403
SCN2A:263:A:T	SCN2A	263	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset	maf_pathogenic	NA	NA	0	1	23935176
SCN2A:263:A:T	SCN2A	263	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:263:A:V	SCN2A	263	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	3	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;Epileptic encephalopathy;SCN2A-related condition;not provided	maf_pathogenic	NA	NA	0	1	VariationID_29888
SCN2A:263:A:V	SCN2A	263	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal epilepsy%2C late-onset ataxia%2C myoclonus & pain	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal epilepsy%2C late-onset ataxia%2C myoclonus & pain	maf_pathogenic	NA	NA	0	1	20956790,27334371,27159988,23550958,28379373
SCN2A:263:A:V	SCN2A	263	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:263:A:V	SCN2A	263	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:263:A:V	SCN2A	263	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:263:A:V	SCN2A	263	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:263:A:V	SCN2A	263	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:263:A:V	SCN2A	263	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:263:A:V	SCN2A	263	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:263:A:V	SCN2A	263	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:263:A:V	SCN2A	263	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:263:A:V	SCN2A	263	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:263:A:V	SCN2A	263	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:263:A:V	SCN2A	263	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:263:A:V	SCN2A	263	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:264:L:V	SCN2A	264	L	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Abnormality of the nervous system	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Abnormality of the nervous system	maf_pathogenic	NA	NA	0	1	26633542
SCN2A:271:M:V	SCN2A	271	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_432605
SCN2A:284:D:G	SCN2A	284	D	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Autism spectrum disorder	maf_pathogenic	NA	NA	0	1	26633542
SCN2A:290:I:V	SCN2A	290	I	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	27824329
SCN2A:297:N:S	SCN2A	297	N	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207044
SCN2A:307:F:L	SCN2A	307	F	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_449583
SCN2A:318:E:K	SCN2A	318	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001305	0	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified	unknown	NA	NA	0	0	VariationID_207045
SCN2A:318:E:K	SCN2A	318	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001305	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:322:D:N	SCN2A	322	D	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	19783390,23195492
SCN2A:328:F:V	SCN2A	328	F	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Likely benign	5.3e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206961
SCN2A:328:F:V	SCN2A	328	F	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	unknown	DM	5.3e-05	2	Neonatal-infantile seizures	unknown	NA	NA	0	0	19783390,19786696,25156649,23195492,25525159
SCN2A:328:F:V	SCN2A	328	F	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	unknown	unknown	5.3e-05	unknown	DEE	unknown	NA	NA	0	0	28379373
SCN2A:328:F:V	SCN2A	328	F	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	unknown	unknown	5.3e-05	unknown	DEE	unknown	NA	NA	0	0	28379373
SCN2A:343:D:G	SCN2A	343	D	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Seizures%2C benign neonatal	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Seizures%2C benign neonatal	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:343:D:G	SCN2A	343	D	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:343:D:H	SCN2A	343	D	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_280832
SCN2A:343:D:V	SCN2A	343	D	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_391613
SCN2A:343:D:Y	SCN2A	343	D	Y	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207046
SCN2A:350:G:R	SCN2A	350	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:352:I:T	SCN2A	352	I	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207048
SCN2A:365:T:M	SCN2A	365	T	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	27824329
SCN2A:370:F:V	SCN2A	370	F	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207049
SCN2A:379:R:H	SCN2A	379	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	27824329,28256214,28628100
SCN2A:379:R:H	SCN2A	379	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:379:R:H	SCN2A	379	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:383:Q:E	SCN2A	383	Q	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	3	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not provided	maf_pathogenic	NA	NA	0	1	VariationID_207050
SCN2A:383:Q:E	SCN2A	383	Q	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy	maf_pathogenic	NA	NA	0	1	27781028
SCN2A:383:Q:E	SCN2A	383	Q	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:383:Q:E	SCN2A	383	Q	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:393:T:K	SCN2A	393	T	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	1	VariationID_193734
SCN2A:400:T:R	SCN2A	400	T	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_373283
SCN2A:415:Y:H	SCN2A	415	Y	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:422:A:T	SCN2A	422	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:423:V:L	SCN2A	423	V	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Early infantile epileptic encephalopathy 11;not provided	maf_pathogenic	NA	NA	0	0	VariationID_207052
SCN2A:423:V:L	SCN2A	423	V	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:423:V:L	SCN2A	423	V	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:423:V:L	SCN2A	423	V	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:423:V:L	SCN2A	423	V	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:424:V:A	SCN2A	424	V	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207053
SCN2A:424:V:L	SCN2A	424	V	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:424:V:M	SCN2A	424	V	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early infantile	maf_pathogenic	NA	NA	0	1	28709814
SCN2A:427:A:D	SCN2A	427	A	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_130212
SCN2A:428:Y:C	SCN2A	428	Y	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207054
SCN2A:430:E:A	SCN2A	430	E	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207055
SCN2A:430:E:A	SCN2A	430	E	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:430:E:A	SCN2A	430	E	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:430:E:G	SCN2A	430	E	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207056
SCN2A:430:E:G	SCN2A	430	E	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset	maf_pathogenic	NA	NA	0	1	24659627,28133863
SCN2A:430:E:G	SCN2A	430	E	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:430:E:Q	SCN2A	430	E	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	unknown	DM	0	1	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	0	17386050,28717674
SCN2A:430:E:Q	SCN2A	430	E	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:434:A:P	SCN2A	434	A	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_432064
SCN2A:435:T:I	SCN2A	435	T	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_421470
SCN2A:438:E:K	SCN2A	438	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207057
SCN2A:438:E:K	SCN2A	438	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Lennox-Gastaut syndrome	NA	unknown	hgmd	unknown	DM	0	1	Lennox-Gastaut syndrome	maf_pathogenic	NA	NA	0	0	27781031
SCN2A:438:E:K	SCN2A	438	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:451:E:K	SCN2A	451	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_373322
SCN2A:459:E:A	SCN2A	459	E	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	8.998e-05	0	not specified	unknown	NA	NA	0	0	VariationID_130213
SCN2A:459:E:A	SCN2A	459	E	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.998e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:466:A:V	SCN2A	466	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207058
SCN2A:467:A:T	SCN2A	467	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.93e-05	2	not specified	unknown	NA	NA	0	0	VariationID_452471
SCN2A:467:A:T	SCN2A	467	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.93e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:477:A:S	SCN2A	477	A	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	27824329
SCN2A:481:G:R	SCN2A	481	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	4.105e-06	2	Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant	maf_pathogenic	NA	NA	0	0	VariationID_331727
SCN2A:495:S:C	SCN2A	495	S	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	4.112e-06	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	0	VariationID_410981
SCN2A:497:S:N	SCN2A	497	S	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Epilepsy	NA	unknown	hgmd	unknown	DM	1.645e-05	2	Epilepsy	unknown	NA	NA	0	0	24848745
SCN2A:509:K:R	SCN2A	509	K	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	unknown	DM	8.23e-06	2	Epileptic encephalopathy%2C early infantile 11	unknown	NA	NA	0	0	25131622
SCN2A:510:Q:H	SCN2A	510	Q	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.115e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207089
SCN2A:520:N:Y	SCN2A	520	N	Y	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.053e-05	2	not specified	unknown	NA	NA	0	0	VariationID_207059
SCN2A:524:R:Q	SCN2A	524	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Likely benign	0.0001355	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	unknown	NA	NA	0	0	VariationID_464902
SCN2A:524:R:Q	SCN2A	524	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001355	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:526:S:L	SCN2A	526	S	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.106e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207090
SCN2A:533:R:K	SCN2A	533	R	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_377208
SCN2A:533:R:K	SCN2A	533	R	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:538:R:H	SCN2A	538	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.47e-05	2	not specified	unknown	NA	NA	0	0	VariationID_207061
SCN2A:538:R:H	SCN2A	538	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.47e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:561:S:N	SCN2A	561	S	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:571:R:H	SCN2A	571	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	5.692e-05	2	not specified	unknown	NA	NA	0	0	VariationID_207062
SCN2A:575:A:V	SCN2A	575	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	19786696
SCN2A:577:L:I	SCN2A	577	L	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207063
SCN2A:585:K:N	SCN2A	585	K	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	8.128e-06	1	not provided	unknown	NA	NA	0	0	VariationID_374579
SCN2A:585:K:N	SCN2A	585	K	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.128e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:587:I:L	SCN2A	587	I	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Likely benign	4.064e-05	2	not specified	unknown	NA	NA	0	0	VariationID_207064
SCN2A:587:I:L	SCN2A	587	I	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.064e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:607:R:Q	SCN2A	607	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	1	VariationID_522924
SCN2A:607:R:Q	SCN2A	607	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:612:F:S	SCN2A	612	F	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207065
SCN2A:612:F:S	SCN2A	612	F	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with late-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with late-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:612:F:S	SCN2A	612	F	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:613:V:M	SCN2A	613	V	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.033e-05	2	not specified	unknown	NA	NA	0	0	VariationID_207042
SCN2A:614:P:L	SCN2A	614	P	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.846e-05	3	not specified	unknown	NA	NA	0	0	VariationID_207091
SCN2A:618:G:R	SCN2A	618	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:621:R:C	SCN2A	621	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.07e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207092
SCN2A:630:R:H	SCN2A	630	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.036e-05	2	not specified	unknown	NA	NA	0	0	VariationID_436660
SCN2A:634:V:A	SCN2A	634	V	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.147e-06	2	not specified	unknown	NA	NA	0	0	VariationID_207066
SCN2A:635:L:P	SCN2A	635	L	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.519e-05	2	not specified	unknown	NA	NA	0	0	VariationID_207067
SCN2A:647:A:T	SCN2A	647	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.085e-05	2	not specified	unknown	NA	NA	0	0	VariationID_207068
SCN2A:649:D:N	SCN2A	649	D	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Dravet syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Dravet syndrome	maf_pathogenic	NA	NA	0	1	22029951,23195492
SCN2A:649:D:N	SCN2A	649	D	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:659:G:D	SCN2A	659	G	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001564	0	Benign familial neonatal-infantile seizures;Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Early infantile epileptic encephalopathy 11;not specified	unknown	NA	NA	0	0	VariationID_207069
SCN2A:662:T:A	SCN2A	662	T	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant;not specified	maf_pathogenic	NA	NA	0	0	VariationID_206962
SCN2A:662:T:A	SCN2A	662	T	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:674:T:K	SCN2A	674	T	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	26637798
SCN2A:674:T:K	SCN2A	674	T	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:675:T:A	SCN2A	675	T	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.219e-05	2	not specified	unknown	NA	NA	0	0	VariationID_452780
SCN2A:678:T:K	SCN2A	678	T	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:682:K:E	SCN2A	682	K	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_377037
SCN2A:682:K:N	SCN2A	682	K	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	1.219e-05	3	Benign familial neonatal-infantile seizures;Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Early infantile epileptic encephalopathy 11	unknown	NA	NA	0	0	VariationID_331728
SCN2A:684:R:W	SCN2A	684	R	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Likely benign	0.0001788	2	not specified	unknown	NA	NA	0	0	VariationID_207071
SCN2A:684:R:W	SCN2A	684	R	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	unknown	unknown	0.0001788	unknown	DEE	unknown	NA	NA	0	0	28379373
SCN2A:684:R:W	SCN2A	684	R	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	unknown	unknown	0.0001788	unknown	DEE	unknown	NA	NA	0	0	28379373
SCN2A:684:R:W	SCN2A	684	R	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001788	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:686:S:I	SCN2A	686	S	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207072
SCN2A:699:T:I	SCN2A	699	T	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	0	VariationID_410978
SCN2A:699:T:I	SCN2A	699	T	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:727:P:S	SCN2A	727	P	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:733:A:P	SCN2A	733	A	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:733:A:T	SCN2A	733	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with late-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with late-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:733:A:T	SCN2A	733	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:733:A:T	SCN2A	733	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:735:M:T	SCN2A	735	M	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Cleft lip and/or palate	NA	unknown	hgmd	unknown	DM	0	1	Cleft lip and/or palate	maf_pathogenic	NA	NA	0	0	27456059
SCN2A:742:C:Y	SCN2A	742	C	Y	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448261
SCN2A:746:L:V	SCN2A	746	L	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.064e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_452934
SCN2A:751:L:F	SCN2A	751	L	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_426398
SCN2A:759:P:T	SCN2A	759	P	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_449134
SCN2A:769:I:T	SCN2A	769	I	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Abnormality of the nervous system	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Abnormality of the nervous system	maf_pathogenic	NA	NA	0	1	26633542
SCN2A:772:N:S	SCN2A	772	N	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:784:T:M	SCN2A	784	T	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.068e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:797:V:I	SCN2A	797	V	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	4.064e-05	0	not specified	unknown	NA	NA	0	0	VariationID_206965
SCN2A:797:V:I	SCN2A	797	V	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.064e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:816:Y:F	SCN2A	816	Y	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:822:G:S	SCN2A	822	G	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neurodevelopmental disorder	NA	unknown	hgmd	unknown	DM	4.062e-06	1	Neurodevelopmental disorder	maf_pathogenic	NA	NA	0	0	27087320
SCN2A:828:G:V	SCN2A	828	G	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Seizures%2C benign neonatal	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Seizures%2C benign neonatal	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:828:G:V	SCN2A	828	G	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:828:G:V	SCN2A	828	G	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:835:L:F	SCN2A	835	L	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset	maf_pathogenic	NA	NA	0	1	28133863
SCN2A:850:R:P	SCN2A	850	R	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Schizophrenia	NA	unknown	hgmd	unknown	DM	0	1	Schizophrenia	maf_pathogenic	NA	NA	0	0	26555645
SCN2A:851:S:L	SCN2A	851	S	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:852:F:S	SCN2A	852	F	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:853:R:P	SCN2A	853	R	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:853:R:Q	SCN2A	853	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;Early infantile epileptic encephalopathy 11;not provided	maf_pathogenic	NA	NA	0	1	VariationID_194555
SCN2A:853:R:Q	SCN2A	853	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	West syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	West syndrome	maf_pathogenic	NA	NA	0	1	23935176,23934111,28628100,25772804,28379373
SCN2A:853:R:Q	SCN2A	853	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:853:R:Q	SCN2A	853	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:853:R:Q	SCN2A	853	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:853:R:Q	SCN2A	853	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:853:R:Q	SCN2A	853	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:853:R:Q	SCN2A	853	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:853:R:Q	SCN2A	853	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:853:R:Q	SCN2A	853	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:853:R:Q	SCN2A	853	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:856:R:Q	SCN2A	856	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:853:R:Q	SCN2A	853	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	EE_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:853:R:Q	SCN2A	853	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	EE_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:853:R:Q	SCN2A	853	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:856:R:L	SCN2A	856	R	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Epilepsy of infancy with migrating focal seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy of infancy with migrating focal seizures	maf_pathogenic	NA	NA	0	1	26291284
SCN2A:856:R:L	SCN2A	856	R	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:856:R:L	SCN2A	856	R	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:856:R:Q	SCN2A	856	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Seizures;not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Seizures;not provided	maf_pathogenic	NA	NA	0	1	VariationID_212125
SCN2A:856:R:Q	SCN2A	856	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Ohtahara syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Ohtahara syndrome	maf_pathogenic	NA	NA	0	1	27781031,28379373
SCN2A:863:S:F	SCN2A	863	S	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Seizures%2C benign neonatal	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Seizures%2C benign neonatal	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:863:S:F	SCN2A	863	S	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:868:N:K	SCN2A	868	N	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206968
SCN2A:873:I:M	SCN2A	873	I	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early infantile with movement disorder	maf_pathogenic	NA	NA	0	1	26993267
SCN2A:873:I:M	SCN2A	873	I	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:876:N:S	SCN2A	876	N	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_449958
SCN2A:876:N:T	SCN2A	876	N	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Ohtahara syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Ohtahara syndrome	maf_pathogenic	NA	NA	0	1	23935176
SCN2A:876:N:T	SCN2A	876	N	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:879:G:R	SCN2A	879	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	1	VariationID_206969
SCN2A:879:G:R	SCN2A	879	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early infantile	maf_pathogenic	NA	NA	0	1	25473036
SCN2A:881:L:P	SCN2A	881	L	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_425221
SCN2A:881:L:P	SCN2A	881	L	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with late-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with late-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:881:L:P	SCN2A	881	L	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:881:L:Q	SCN2A	881	L	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206970
SCN2A:882:G:E	SCN2A	882	G	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Inborn genetic diseases	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	1	VariationID_520571
SCN2A:882:G:E	SCN2A	882	G	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:882:G:E	SCN2A	882	G	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:882:G:E	SCN2A	882	G	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	EE_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:882:G:R	SCN2A	882	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:882:G:R	SCN2A	882	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:885:T:I	SCN2A	885	T	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:886:L:S	SCN2A	886	L	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206972
SCN2A:887:V:A	SCN2A	887	V	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:887:V:A	SCN2A	887	V	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:887:V:A	SCN2A	887	V	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:891:I:T	SCN2A	891	I	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:891:I:T	SCN2A	891	I	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:892:V:I	SCN2A	892	V	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Benign familial neonatal-infantile seizures;Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not provided	maf_pathogenic	NA	NA	0	0	VariationID_12878
SCN2A:892:V:I	SCN2A	892	V	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	15048894,28717674
SCN2A:892:V:L	SCN2A	892	V	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:895:F:S	SCN2A	895	F	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:895:F:S	SCN2A	895	F	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:896:A:V	SCN2A	896	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Early infantile epileptic encephalopathy 11;Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	VariationID_375508
SCN2A:896:A:V	SCN2A	896	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C neonatal	maf_pathogenic	NA	NA	0	1	27864847
SCN2A:896:A:V	SCN2A	896	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:899:G:D	SCN2A	899	G	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206975
SCN2A:899:G:S	SCN2A	899	G	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206974
SCN2A:899:G:S	SCN2A	899	G	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with late-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with late-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:899:G:S	SCN2A	899	G	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:899:G:S	SCN2A	899	G	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:901:Q:E	SCN2A	901	Q	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_429576
SCN2A:905:K:E	SCN2A	905	K	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Benign familial neonatal-infantile seizures	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Benign familial neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	VariationID_285909
SCN2A:905:K:N	SCN2A	905	K	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206973
SCN2A:905:K:N	SCN2A	905	K	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	23708187
SCN2A:905:K:N	SCN2A	905	K	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:908:K:E	SCN2A	908	K	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206976
SCN2A:908:K:E	SCN2A	908	K	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:908:K:E	SCN2A	908	K	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:908:K:R	SCN2A	908	K	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Benign/Likely benign	0.004341	3	Benign familial neonatal-infantile seizures;Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Early infantile epileptic encephalopathy 11;not provided;not specified	unknown	NA	NA	0	0	VariationID_130219
SCN2A:908:K:R	SCN2A	908	K	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.004341	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:922:R:H	SCN2A	922	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_372885
SCN2A:923:W:R	SCN2A	923	W	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_392633
SCN2A:925:M:T	SCN2A	925	M	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_373364
SCN2A:928:F:C	SCN2A	928	F	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	23708187
SCN2A:928:F:C	SCN2A	928	F	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:930:H:Q	SCN2A	930	H	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with late-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with late-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:930:H:Q	SCN2A	930	H	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:930:H:Q	SCN2A	930	H	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	EE_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:931:S:Y	SCN2A	931	S	Y	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_426287
SCN2A:937:R:C	SCN2A	937	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207080
SCN2A:937:R:C	SCN2A	937	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Intellectual disability%2C nonsyndromic	NA	unknown	hgmd	unknown	DM	0	1	Intellectual disability%2C nonsyndromic	maf_pathogenic	NA	NA	0	0	23020937,28256214,28628100
SCN2A:937:R:C	SCN2A	937	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:937:R:C	SCN2A	937	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:937:R:C	SCN2A	937	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	ASD_noE	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ASD_noE	maf_pathogenic	NA	NA	1	1	29942082
SCN2A:937:R:C	SCN2A	937	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	ID_noE	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ID_noE	maf_pathogenic	NA	NA	1	1	29942082
SCN2A:937:R:H	SCN2A	937	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_432034
SCN2A:937:R:H	SCN2A	937	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	27824329,28256214,28628100
SCN2A:937:R:H	SCN2A	937	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:959:C:R	SCN2A	959	C	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_390254
SCN2A:973:V:L	SCN2A	973	V	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:976:N:K	SCN2A	976	N	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	26291284
SCN2A:976:N:K	SCN2A	976	N	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:978:F:L	SCN2A	978	F	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:978:F:L	SCN2A	978	F	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:983:L:W	SCN2A	983	L	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Early infantile epileptic encephalopathy%2C hypsarythmia%2C and refux	maf_pathogenic	NA	NA	0	1	27290639
SCN2A:983:L:W	SCN2A	983	L	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:987:S:I	SCN2A	987	S	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy_episodic_ataxia	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Early infantile epileptic encephalopathy 11;Episodic ataxia;Seizures;Vertigo;not provided	maf_pathogenic	NA	NA	0	1	VariationID_206978
SCN2A:987:S:I	SCN2A	987	S	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early infantile	maf_pathogenic	NA	NA	0	1	26993267,27353043
SCN2A:987:S:I	SCN2A	987	S	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:987:S:I	SCN2A	987	S	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:988:S:P	SCN2A	988	S	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206979
SCN2A:996:D:A	SCN2A	996	D	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:996:D:G	SCN2A	996	D	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:997:D:G	SCN2A	997	D	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_390480
SCN2A:997:D:G	SCN2A	997	D	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:999:E:K	SCN2A	999	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Early infantile epileptic encephalopathy 11;not provided	maf_pathogenic	NA	NA	0	1	VariationID_206981
SCN2A:999:E:K	SCN2A	999	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Ohtahara syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Ohtahara syndrome	maf_pathogenic	NA	NA	0	1	23935176,26648591
SCN2A:999:E:K	SCN2A	999	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:999:E:K	SCN2A	999	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:999:E:K	SCN2A	999	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:999:E:K	SCN2A	999	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:999:E:K	SCN2A	999	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:999:E:K	SCN2A	999	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:999:E:K	SCN2A	999	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:999:E:V	SCN2A	999	E	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early infantile	maf_pathogenic	NA	NA	0	1	26993267,27867041
SCN2A:999:E:V	SCN2A	999	E	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1001:N:K	SCN2A	1001	N	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	16417554,28717674,23360469
SCN2A:1001:N:K	SCN2A	1001	N	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1003:L:I	SCN2A	1003	L	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Benign familial neonatal-infantile seizures	NA	unknown	clinvar	unknown	Pathogenic	0	1	Benign familial neonatal-infantile seizures	maf_pathogenic	NA	NA	0	0	VariationID_12881
SCN2A:1003:L:I	SCN2A	1003	L	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	15048894,28717674
SCN2A:1003:L:I	SCN2A	1003	L	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1003:L:I	SCN2A	1003	L	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1007:V:M	SCN2A	1007	V	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1008:G:E	SCN2A	1008	G	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_429289
SCN2A:1015:D:N	SCN2A	1015	D	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	8.125e-06	2	Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant	unknown	NA	NA	0	0	VariationID_331730
SCN2A:1017:V:L	SCN2A	1017	V	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	1.219e-05	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	unknown	NA	NA	0	0	VariationID_464905
SCN2A:1022:R:H	SCN2A	1022	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.125e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1061:I:M	SCN2A	1061	I	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1064:D:Y	SCN2A	1064	D	Y	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	2.032e-05	3	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified	unknown	NA	NA	0	0	VariationID_206982
SCN2A:1084:K:R	SCN2A	1084	K	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_449161
SCN2A:1084:K:R	SCN2A	1084	K	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1087:V:M	SCN2A	1087	V	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.625e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206984
SCN2A:1114:F:L	SCN2A	1114	F	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:1128:M:T	SCN2A	1128	M	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Acute encephalitis with refractory%2C repetitive partial seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Acute encephalitis with refractory%2C repetitive partial seizures	maf_pathogenic	NA	NA	0	1	22591750
SCN2A:1128:M:T	SCN2A	1128	M	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1145:T:M	SCN2A	1145	T	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206986
SCN2A:1149:G:A	SCN2A	1149	G	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.437e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1153:E:K	SCN2A	1153	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001665	0	Benign familial neonatal-infantile seizures;Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Early infantile epileptic encephalopathy 11;not specified	unknown	NA	NA	0	0	VariationID_206987
SCN2A:1162:E:V	SCN2A	1162	E	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.655e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206988
SCN2A:1162:E:V	SCN2A	1162	E	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.655e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1177:R:W	SCN2A	1177	R	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	3.252e-05	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	unknown	NA	NA	0	0	VariationID_464907
SCN2A:1183:Q:E	SCN2A	1183	Q	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.063e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_289283
SCN2A:1184:I:V	SCN2A	1184	I	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_451119
SCN2A:1186:I:T	SCN2A	1186	I	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1196:N:D	SCN2A	1196	N	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207083
SCN2A:1200:T:A	SCN2A	1200	T	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided;not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.031e-05	3	not provided;not specified	unknown	NA	NA	0	0	VariationID_212127
SCN2A:1200:T:A	SCN2A	1200	T	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	unknown	unknown	2.031e-05	unknown	DEE	unknown	NA	NA	0	0	28379373
SCN2A:1200:T:A	SCN2A	1200	T	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.031e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1211:E:K	SCN2A	1211	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not provided	maf_pathogenic	NA	NA	0	1	VariationID_29886
SCN2A:1211:E:K	SCN2A	1211	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	19786696,28379373,25459969
SCN2A:1211:E:K	SCN2A	1211	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1211:E:K	SCN2A	1211	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1211:E:K	SCN2A	1211	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1211:E:K	SCN2A	1211	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1213:F:V	SCN2A	1213	F	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_208771
SCN2A:1215:V:F	SCN2A	1215	V	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_422520
SCN2A:1223:G:R	SCN2A	1223	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with late-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with late-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1223:G:R	SCN2A	1223	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1224:A:S	SCN2A	1224	A	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.251e-05	2	not specified	unknown	NA	NA	0	0	VariationID_206989
SCN2A:1224:A:S	SCN2A	1224	A	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.251e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1231:Y:H	SCN2A	1231	Y	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_445600
SCN2A:1242:L:F	SCN2A	1242	L	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Inborn genetic diseases;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Inborn genetic diseases;not specified	maf_pathogenic	NA	NA	0	0	VariationID_432058
SCN2A:1245:A:V	SCN2A	1245	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	4.065e-06	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_521077
SCN2A:1260:K:E	SCN2A	1260	K	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early infantile	maf_pathogenic	NA	NA	0	1	26993267
SCN2A:1260:K:E	SCN2A	1260	K	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1260:K:Q	SCN2A	1260	K	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early infantile	maf_pathogenic	NA	NA	0	1	26993267
SCN2A:1260:K:Q	SCN2A	1260	K	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1281:I:F	SCN2A	1281	I	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with late-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with late-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1281:I:F	SCN2A	1281	I	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1282:V:F	SCN2A	1282	V	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Schizophrenia	NA	unknown	hgmd	unknown	DM	0	1	Schizophrenia	maf_pathogenic	NA	NA	0	0	26555645
SCN2A:1282:V:F	SCN2A	1282	V	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1292:N:T	SCN2A	1292	N	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1293:A:V	SCN2A	1293	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1312:R:T	SCN2A	1312	R	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	19783390,22677033,23195492
SCN2A:1312:R:T	SCN2A	1312	R	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1315:R:K	SCN2A	1315	R	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206990
SCN2A:1316:A:V	SCN2A	1316	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Epileptic encephalopathy;not provided	maf_pathogenic	NA	NA	0	1	VariationID_206991
SCN2A:1316:A:V	SCN2A	1316	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Ohtahara syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Ohtahara syndrome	maf_pathogenic	NA	NA	0	1	27864847
SCN2A:1316:A:V	SCN2A	1316	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1319:R:L	SCN2A	1319	R	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_379254
SCN2A:1319:R:L	SCN2A	1319	R	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	27779742
SCN2A:1319:R:P	SCN2A	1319	R	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	27824329
SCN2A:1319:R:P	SCN2A	1319	R	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1319:R:Q	SCN2A	1319	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Benign familial neonatal-infantile seizures;not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Benign familial neonatal-infantile seizures;not provided	maf_pathogenic	NA	NA	0	1	VariationID_12880
SCN2A:1319:R:Q	SCN2A	1319	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	15048894,28717674,18479388,28379373,23360469
SCN2A:1319:R:Q	SCN2A	1319	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1319:R:Q	SCN2A	1319	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1319:R:Q	SCN2A	1319	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1319:R:Q	SCN2A	1319	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1319:R:Q	SCN2A	1319	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1319:R:W	SCN2A	1319	R	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	4.07e-06	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	0	VariationID_410982
SCN2A:1319:R:W	SCN2A	1319	R	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	West syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	4.07e-06	2	West syndrome	maf_pathogenic	NA	NA	0	1	27781031,28379373
SCN2A:1319:R:W	SCN2A	1319	R	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	4.07e-06	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1321:E:K	SCN2A	1321	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Seizures%2C benign infantile	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Seizures%2C benign infantile	maf_pathogenic	NA	NA	0	1	25982755
SCN2A:1321:E:K	SCN2A	1321	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1322:G:R	SCN2A	1322	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_381961
SCN2A:1323:M:V	SCN2A	1323	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Malignant migrating partial seizures of infancy	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Malignant migrating partial seizures of infancy	maf_pathogenic	NA	NA	0	1	VariationID_375505
SCN2A:1323:M:V	SCN2A	1323	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Ohtahara syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Ohtahara syndrome	maf_pathogenic	NA	NA	0	1	23935176,27864847
SCN2A:1323:M:V	SCN2A	1323	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1323:M:V	SCN2A	1323	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1324:R:K	SCN2A	1324	R	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.07e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_206992
SCN2A:1324:R:S	SCN2A	1324	R	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_391978
SCN2A:1324:R:S	SCN2A	1324	R	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_453152
SCN2A:1326:V:D	SCN2A	1326	V	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206993
SCN2A:1326:V:D	SCN2A	1326	V	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Migrating focal seizures of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Migrating focal seizures of infancy	maf_pathogenic	NA	NA	0	1	23988467
SCN2A:1326:V:D	SCN2A	1326	V	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1326:V:D	SCN2A	1326	V	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1326:V:L	SCN2A	1326	V	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Ohtahara syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Ohtahara syndrome	maf_pathogenic	NA	NA	0	1	23935176
SCN2A:1326:V:L	SCN2A	1326	V	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1329:A:D	SCN2A	1329	A	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_451715
SCN2A:1329:A:S	SCN2A	1329	A	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_391368
SCN2A:1330:L:F	SCN2A	1330	L	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Benign familial neonatal-infantile seizures	NA	unknown	clinvar	unknown	Pathogenic	0	1	Benign familial neonatal-infantile seizures	maf_pathogenic	NA	NA	0	0	VariationID_12876
SCN2A:1330:L:F	SCN2A	1330	L	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	12243921,28717674,18479388
SCN2A:1330:L:F	SCN2A	1330	L	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1332:G:A	SCN2A	1332	G	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_450844
SCN2A:1333:A:D	SCN2A	1333	A	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1333:A:T	SCN2A	1333	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206994
SCN2A:1333:A:T	SCN2A	1333	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset%2C with burst suppression	maf_pathogenic	NA	NA	0	1	28133863
SCN2A:1334:I:T	SCN2A	1334	I	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_265305
SCN2A:1336:S:Y	SCN2A	1336	S	Y	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Ohtahara syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Ohtahara syndrome	maf_pathogenic	NA	NA	0	1	23935176,24814476
SCN2A:1336:S:Y	SCN2A	1336	S	Y	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1336:S:Y	SCN2A	1336	S	Y	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1338:M:R	SCN2A	1338	M	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206995
SCN2A:1338:M:T	SCN2A	1338	M	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Ohtahara syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Ohtahara syndrome	maf_pathogenic	NA	NA	0	1	23935176
SCN2A:1338:M:T	SCN2A	1338	M	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1341:L:R	SCN2A	1341	L	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	24893065
SCN2A:1342:L:P	SCN2A	1342	L	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206996
SCN2A:1342:L:P	SCN2A	1342	L	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	24710820,26138355,24659627,28379373
SCN2A:1342:L:P	SCN2A	1342	L	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1342:L:P	SCN2A	1342	L	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1342:L:P	SCN2A	1342	L	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1342:L:P	SCN2A	1342	L	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1342:L:P	SCN2A	1342	L	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1344:C:Y	SCN2A	1344	C	Y	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	VariationID_375509
SCN2A:1344:C:Y	SCN2A	1344	C	Y	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset	maf_pathogenic	NA	NA	0	1	27864847
SCN2A:1344:C:Y	SCN2A	1344	C	Y	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1346:I:N	SCN2A	1346	I	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	0	VariationID_464909
SCN2A:1346:I:V	SCN2A	1346	I	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206997
SCN2A:1353:I:M	SCN2A	1353	I	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206998
SCN2A:1354:M:T	SCN2A	1354	M	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_432025
SCN2A:1374:M:K	SCN2A	1374	M	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.074e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_373360
SCN2A:1377:V:L	SCN2A	1377	V	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_432292
SCN2A:1379:V:M	SCN2A	1379	V	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	2.038e-05	3	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified	unknown	NA	NA	0	0	VariationID_424464
SCN2A:1386:C:G	SCN2A	1386	C	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_195695
SCN2A:1386:C:R	SCN2A	1386	C	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	27824329,28256214
SCN2A:1386:C:R	SCN2A	1386	C	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1386:C:R	SCN2A	1386	C	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1386:C:R	SCN2A	1386	C	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	ASD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ASD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:1386:C:Y	SCN2A	1386	C	Y	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_390338
SCN2A:1386:C:Y	SCN2A	1386	C	Y	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1390:I:T	SCN2A	1390	I	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.159e-06	2	not specified	unknown	NA	NA	0	0	VariationID_451404
SCN2A:1420:T:M	SCN2A	1420	T	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	25849321,28256214
SCN2A:1420:T:M	SCN2A	1420	T	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1420:T:M	SCN2A	1420	T	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1422:K:E	SCN2A	1422	K	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_206999
SCN2A:1422:K:E	SCN2A	1422	K	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Spasms%2C infantile%2C and bitemporal glucose hypometabolism	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Spasms%2C infantile%2C and bitemporal glucose hypometabolism	maf_pathogenic	NA	NA	0	1	23827426,25262651
SCN2A:1422:K:E	SCN2A	1422	K	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1422:K:E	SCN2A	1422	K	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	EE_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:1435:R:G	SCN2A	1435	R	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207000
SCN2A:1441:P:S	SCN2A	1441	P	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207003
SCN2A:1450:Y:C	SCN2A	1450	Y	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_430417
SCN2A:1455:I:N	SCN2A	1455	I	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	West syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	West syndrome	maf_pathogenic	NA	NA	0	1	27779742
SCN2A:1457:I:V	SCN2A	1457	I	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207004
SCN2A:1465:L:W	SCN2A	1465	L	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207005
SCN2A:1470:G:A	SCN2A	1470	G	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Autism spectrum disorder	maf_pathogenic	NA	NA	0	1	26325558
SCN2A:1470:G:A	SCN2A	1470	G	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1472:I:V	SCN2A	1472	I	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	2.048e-05	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	unknown	NA	NA	0	0	VariationID_410983
SCN2A:1473:I:M	SCN2A	1473	I	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	0	VariationID_29887
SCN2A:1473:I:M	SCN2A	1473	I	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	19786696,25525159
SCN2A:1473:I:M	SCN2A	1473	I	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1473:I:T	SCN2A	1473	I	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_427011
SCN2A:1473:I:T	SCN2A	1473	I	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1479:Q:E	SCN2A	1479	Q	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	0	VariationID_464911
SCN2A:1479:Q:K	SCN2A	1479	Q	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	1	VariationID_436661
SCN2A:1479:Q:P	SCN2A	1479	Q	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early infantile	maf_pathogenic	NA	NA	0	1	26993267
SCN2A:1479:Q:P	SCN2A	1479	Q	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1479:Q:P	SCN2A	1479	Q	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:1488:I:N	SCN2A	1488	I	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207006
SCN2A:1490:M:V	SCN2A	1490	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	1	VariationID_224077
SCN2A:1490:M:V	SCN2A	1490	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Moderate intellectual disability with speech delay and Seizures	NA	unknown	hgmd	unknown	DM	0	1	Moderate intellectual disability with speech delay and Seizures	maf_pathogenic	NA	NA	0	0	28554332
SCN2A:1500:A:T	SCN2A	1500	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1500:A:T	SCN2A	1500	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1502:K:E	SCN2A	1502	K	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1517:A:S	SCN2A	1517	A	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1522:G:A	SCN2A	1522	G	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0008396	0	Benign familial neonatal-infantile seizures;Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Early infantile epileptic encephalopathy 11;not specified	unknown	NA	NA	0	0	VariationID_130214
SCN2A:1522:G:A	SCN2A	1522	G	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	unknown	DM	0.0008396	2	Epileptic encephalopathy	unknown	NA	NA	0	0	25818041,9154907,26645390
SCN2A:1522:G:A	SCN2A	1522	G	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	unknown	unknown	0.0008396	unknown	DEE	unknown	NA	NA	0	0	28379373
SCN2A:1522:G:A	SCN2A	1522	G	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	unknown	unknown	0.0008396	unknown	DEE	unknown	NA	NA	0	0	28379373
SCN2A:1522:G:A	SCN2A	1522	G	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0008396	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1531:Q:K	SCN2A	1531	Q	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Seizures%2C benign infantile	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Seizures%2C benign infantile	maf_pathogenic	NA	NA	0	1	25982755,28379373
SCN2A:1531:Q:K	SCN2A	1531	Q	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1531:Q:K	SCN2A	1531	Q	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1536:S:N	SCN2A	1536	S	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_449529
SCN2A:1536:S:R	SCN2A	1536	S	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1536:S:R	SCN2A	1536	S	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1537:I:S	SCN2A	1537	I	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	ID_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ID_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:1538:M:V	SCN2A	1538	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207009
SCN2A:1544:N:D	SCN2A	1544	N	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207011
SCN2A:1545:M:I	SCN2A	1545	M	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1545:M:V	SCN2A	1545	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207012
SCN2A:1545:M:V	SCN2A	1545	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset	maf_pathogenic	NA	NA	0	1	27876397
SCN2A:1545:M:V	SCN2A	1545	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1545:M:V	SCN2A	1545	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1545:M:V	SCN2A	1545	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1548:M:T	SCN2A	1548	M	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	VariationID_375506
SCN2A:1548:M:T	SCN2A	1548	M	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C neonatal	maf_pathogenic	NA	NA	0	1	27864847
SCN2A:1548:M:T	SCN2A	1548	M	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1548:M:V	SCN2A	1548	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1548:M:V	SCN2A	1548	M	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1554:D:G	SCN2A	1554	D	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207084
SCN2A:1563:L:V	SCN2A	1563	L	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Benign familial neonatal-infantile seizures;not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Benign familial neonatal-infantile seizures;not provided	maf_pathogenic	NA	NA	0	1	VariationID_12877
SCN2A:1563:L:V	SCN2A	1563	L	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	12243921,28717674,18479388
SCN2A:1563:L:V	SCN2A	1563	L	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1567:N:K	SCN2A	1567	N	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207013
SCN2A:1573:L:P	SCN2A	1573	L	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207014
SCN2A:1576:G:R	SCN2A	1576	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	1	VariationID_224078
SCN2A:1576:G:R	SCN2A	1576	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Moderate intellectual disability with speech delay and seizures	NA	unknown	hgmd	unknown	DM	0	1	Moderate intellectual disability with speech delay and seizures	maf_pathogenic	NA	NA	0	0	28554332
SCN2A:1583:I:T	SCN2A	1583	I	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.065e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_391932
SCN2A:1589:Y:C	SCN2A	1589	Y	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	0	VariationID_464912
SCN2A:1589:Y:C	SCN2A	1589	Y	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures%2C benign familial	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neonatal-infantile seizures%2C benign familial	maf_pathogenic	NA	NA	0	1	23758435
SCN2A:1589:Y:C	SCN2A	1589	Y	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1592:I:T	SCN2A	1592	I	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.132e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1593:G:R	SCN2A	1593	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_279927
SCN2A:1593:G:R	SCN2A	1593	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Epilepsy of infancy with migrating focal seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy of infancy with migrating focal seizures	maf_pathogenic	NA	NA	0	1	26291284
SCN2A:1593:G:R	SCN2A	1593	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1594:W:C	SCN2A	1594	W	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_383825
SCN2A:1594:W:R	SCN2A	1594	W	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_372973
SCN2A:1594:W:R	SCN2A	1594	W	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Developmental delay	NA	unknown	hgmd	unknown	DM	0	1	Developmental delay	maf_pathogenic	NA	NA	0	0	28256214
SCN2A:1594:W:R	SCN2A	1594	W	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1594:W:R	SCN2A	1594	W	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:1596:I:S	SCN2A	1596	I	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Neonatal-infantile seizures	NA	unknown	hgmd	unknown	DM	0	1	Neonatal-infantile seizures	maf_pathogenic	NA	NA	0	0	17386050,28717674
SCN2A:1596:I:S	SCN2A	1596	I	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1597:F:L	SCN2A	1597	F	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1597:F:L	SCN2A	1597	F	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1597:F:L	SCN2A	1597	F	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1598:D:G	SCN2A	1598	D	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Intellectual disability%2C developmental delay%2C seizures & hypotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intellectual disability%2C developmental delay%2C seizures & hypotonia	maf_pathogenic	NA	NA	0	1	22581936
SCN2A:1598:D:G	SCN2A	1598	D	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1608:G:R	SCN2A	1608	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207016
SCN2A:1608:G:R	SCN2A	1608	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1614:L:P	SCN2A	1614	L	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	1	VariationID_212129
SCN2A:1619:F:S	SCN2A	1619	F	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_426288
SCN2A:1621:S:P	SCN2A	1621	S	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_372556
SCN2A:1622:P:S	SCN2A	1622	P	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with late-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with late-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1622:P:S	SCN2A	1622	P	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1622:P:S	SCN2A	1622	P	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1623:T:N	SCN2A	1623	T	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Ohtahara syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Ohtahara syndrome	maf_pathogenic	NA	NA	0	1	23935176
SCN2A:1623:T:N	SCN2A	1623	T	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1623:T:N	SCN2A	1623	T	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1626:R:Q	SCN2A	1626	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	3	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207017
SCN2A:1626:R:Q	SCN2A	1626	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Seizures%2C benign infantile	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Seizures%2C benign infantile	maf_pathogenic	NA	NA	0	1	25473036,25937001
SCN2A:1627:V:M	SCN2A	1627	V	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207018
SCN2A:1627:V:M	SCN2A	1627	V	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1627:V:M	SCN2A	1627	V	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1628:I:T	SCN2A	1628	I	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	0	VariationID_464913
SCN2A:1629:R:H	SCN2A	1629	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not provided	maf_pathogenic	NA	NA	0	0	VariationID_207019
SCN2A:1629:R:H	SCN2A	1629	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1629:R:H	SCN2A	1629	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1629:R:H	SCN2A	1629	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1629:R:H	SCN2A	1629	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:1629:R:H	SCN2A	1629	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1629:R:L	SCN2A	1629	R	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset	maf_pathogenic	NA	NA	0	1	23935176
SCN2A:1629:R:L	SCN2A	1629	R	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1629:R:P	SCN2A	1629	R	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1632:R:K	SCN2A	1632	R	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207020
SCN2A:1632:R:K	SCN2A	1632	R	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Seizures	maf_pathogenic	NA	NA	0	1	26633542
SCN2A:1634:G:D	SCN2A	1634	G	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Episodic ataxia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Episodic ataxia	maf_pathogenic	NA	NA	0	1	27328862
SCN2A:1634:G:D	SCN2A	1634	G	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1634:G:V	SCN2A	1634	G	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Ohtahara syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Ohtahara syndrome	maf_pathogenic	NA	NA	0	1	26291284
SCN2A:1634:G:V	SCN2A	1634	G	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1635:R:Q	SCN2A	1635	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_380389
SCN2A:1636:I:M	SCN2A	1636	I	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207022
SCN2A:1636:I:M	SCN2A	1636	I	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1640:I:S	SCN2A	1640	I	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1640:I:S	SCN2A	1640	I	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1641:K:N	SCN2A	1641	K	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Seizures%2C benign infantile	NA	unknown	hgmd	(Likely)pathogenic	DM	4.063e-06	2	Seizures%2C benign infantile	maf_pathogenic	NA	NA	0	1	23360469,28717674
SCN2A:1641:K:N	SCN2A	1641	K	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	4.063e-06	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1647:R:H	SCN2A	1647	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_208746
SCN2A:1650:L:F	SCN2A	1650	L	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1650:L:P	SCN2A	1650	L	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early infantile	maf_pathogenic	NA	NA	0	1	26993267
SCN2A:1650:L:P	SCN2A	1650	L	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1651:F:C	SCN2A	1651	F	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with early-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with early-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1651:F:C	SCN2A	1651	F	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1651:F:C	SCN2A	1651	F	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1651:F:C	SCN2A	1651	F	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1652:A:P	SCN2A	1652	A	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with late-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with late-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1652:A:P	SCN2A	1652	A	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1655:M:T	SCN2A	1655	M	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_420819
SCN2A:1656:S:F	SCN2A	1656	S	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Inborn genetic diseases	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	1	VariationID_520884
SCN2A:1656:S:F	SCN2A	1656	S	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with late-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with late-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1656:S:F	SCN2A	1656	S	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1659:A:V	SCN2A	1659	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	1	VariationID_410984
SCN2A:1660:L:W	SCN2A	1660	L	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy%2C recurrent	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy%2C recurrent	maf_pathogenic	NA	NA	0	1	25457084
SCN2A:1660:L:W	SCN2A	1660	L	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1665:L:F	SCN2A	1665	L	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	27652284,28379373
SCN2A:1665:L:V	SCN2A	1665	L	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1666:L:F	SCN2A	1666	L	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_520798
SCN2A:1688:E:D	SCN2A	1688	E	D	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_418477
SCN2A:1689:V:L	SCN2A	1689	V	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.065e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207023
SCN2A:1706:C:S	SCN2A	1706	C	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Benign familial neonatal-infantile seizures	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Benign familial neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	VariationID_495267
SCN2A:1731:C:Y	SCN2A	1731	C	Y	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DD_noE	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_noE	maf_pathogenic	NA	NA	1	1	29942082
SCN2A:1744:G:E	SCN2A	1744	G	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Intellectual disability/Autism spectrum disorder	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intellectual disability/Autism spectrum disorder	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1744:G:E	SCN2A	1744	G	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1744:G:R	SCN2A	1744	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	26637798
SCN2A:1744:G:R	SCN2A	1744	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1758:S:R	SCN2A	1758	S	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_419634
SCN2A:1758:S:R	SCN2A	1758	S	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_521745
SCN2A:1770:M:L	SCN2A	1770	M	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Inborn genetic diseases	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	1	VariationID_520713
SCN2A:1770:M:L	SCN2A	1770	M	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	unknown	DM	0	1	Epileptic encephalopathy%2C neonatal	maf_pathogenic	NA	NA	0	0	26795593
SCN2A:1770:M:L	SCN2A	1770	M	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	EE_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:1773:A:T	SCN2A	1773	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	3	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;Inborn genetic diseases;not provided	maf_pathogenic	NA	NA	0	1	VariationID_207024
SCN2A:1773:A:T	SCN2A	1773	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DD_noE	NA	lof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_noE	maf_pathogenic	NA	NA	1	1	29942082
SCN2A:1773:A:T	SCN2A	1773	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1773:A:V	SCN2A	1773	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Inborn genetic diseases	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	1	VariationID_520893
SCN2A:1773:A:V	SCN2A	1773	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	0	1	Autism spectrum disorder	maf_pathogenic	NA	NA	0	0	27824329,28379373
SCN2A:1773:A:V	SCN2A	1773	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1773:A:V	SCN2A	1773	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:1780:S:N	SCN2A	1780	S	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_452500
SCN2A:1783:T:I	SCN2A	1783	T	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1793:D:N	SCN2A	1793	D	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Epilepsy%2C idiopathic	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy%2C idiopathic	maf_pathogenic	NA	NA	0	1	21703448
SCN2A:1800:E:V	SCN2A	1800	E	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1811:Q:E	SCN2A	1811	Q	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	27652284,28379373
SCN2A:1811:Q:E	SCN2A	1811	Q	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1812:F:I	SCN2A	1812	F	I	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207026
SCN2A:1816:A:S	SCN2A	1816	A	S	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001219	0	not specified	unknown	NA	NA	0	0	VariationID_206956
SCN2A:1822:A:V	SCN2A	1822	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.065e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_450222
SCN2A:1823:D:A	SCN2A	1823	D	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002683	0	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified	unknown	NA	NA	0	0	VariationID_212131
SCN2A:1829:L:F	SCN2A	1829	L	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early infantile	maf_pathogenic	NA	NA	0	1	26993267
SCN2A:1829:L:F	SCN2A	1829	L	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1831:I:M	SCN2A	1831	I	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	3	not specified	maf_pathogenic	NA	NA	0	0	VariationID_431830
SCN2A:1838:Q:H	SCN2A	1838	Q	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.066e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207085
SCN2A:1849:G:R	SCN2A	1849	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_493290
SCN2A:1849:G:R	SCN2A	1849	G	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1850:D:E	SCN2A	1850	D	E	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_493291
SCN2A:1851:R:W	SCN2A	1851	R	W	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Benign familial neonatal-infantile seizures	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Benign familial neonatal-infantile seizures	maf_pathogenic	NA	NA	0	1	VariationID_495262
SCN2A:1853:H:R	SCN2A	1853	H	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Ohtahara syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Ohtahara syndrome	maf_pathogenic	NA	NA	0	1	24463883
SCN2A:1853:H:R	SCN2A	1853	H	R	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1874:A:T	SCN2A	1874	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	2.035e-05	2	Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant	unknown	NA	NA	0	0	VariationID_331741
SCN2A:1874:A:T	SCN2A	1874	A	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.035e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1875:L:F	SCN2A	1875	L	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_450962
SCN2A:1875:L:F	SCN2A	1875	L	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1879:M:T	SCN2A	1879	M	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	27779742
SCN2A:1880:E:K	SCN2A	1880	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1880:E:K	SCN2A	1880	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN2A:1882:R:G	SCN2A	1882	R	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207028
SCN2A:1882:R:G	SCN2A	1882	R	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Epilepsy%2C neonatal with episodic ataxia%2C late-onset	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy%2C neonatal with episodic ataxia%2C late-onset	maf_pathogenic	NA	NA	0	1	26645390
SCN2A:1882:R:G	SCN2A	1882	R	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1882:R:G	SCN2A	1882	R	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1882:R:G	SCN2A	1882	R	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1882:R:L	SCN2A	1882	R	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207029
SCN2A:1882:R:L	SCN2A	1882	R	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Seizures%2C intellectual disability%2C optic atrophy%2C muscular hypotonia and brain abnormalities	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Seizures%2C intellectual disability%2C optic atrophy%2C muscular hypotonia and brain abnormalities	maf_pathogenic	NA	NA	0	1	24579881
SCN2A:1882:R:L	SCN2A	1882	R	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1882:R:L	SCN2A	1882	R	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1882:R:L	SCN2A	1882	R	L	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1882:R:P	SCN2A	1882	R	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with late-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with late-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1882:R:P	SCN2A	1882	R	P	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	1	28379373
SCN2A:1882:R:Q	SCN2A	1882	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;Epileptic encephalopathy;not provided	maf_pathogenic	NA	NA	0	1	VariationID_196039
SCN2A:1882:R:Q	SCN2A	1882	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	1	23708187,28379373
SCN2A:1882:R:Q	SCN2A	1882	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1882:R:Q	SCN2A	1882	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1882:R:Q	SCN2A	1882	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1882:R:Q	SCN2A	1882	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1882:R:Q	SCN2A	1882	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1882:R:Q	SCN2A	1882	R	Q	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1885:A:V	SCN2A	1885	A	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	0	VariationID_464916
SCN2A:1888:P:T	SCN2A	1888	P	T	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	maf_pathogenic	NA	NA	0	0	VariationID_464917
SCN2A:1893:Y:N	SCN2A	1893	Y	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1902:R:C	SCN2A	1902	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Autism	NA	unknown	hgmd	unknown	DM	2.444e-05	1	Autism	unknown	NA	NA	0	0	12610651
SCN2A:1902:R:C	SCN2A	1902	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	unknown	unknown	2.444e-05	unknown	DEE	unknown	NA	NA	0	0	28379373
SCN2A:1902:R:C	SCN2A	1902	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	NA	JohannesenK_MoellerR_SCN2A	unknown	unknown	2.444e-05	unknown	DEE	unknown	NA	NA	0	0	28379373
SCN2A:1902:R:H	SCN2A	1902	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.482e-05	2	not specified	unknown	NA	NA	0	0	VariationID_431900
SCN2A:1918:R:C	SCN2A	1918	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not provided;not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.56e-05	3	not provided;not specified	unknown	NA	NA	0	0	VariationID_282579
SCN2A:1918:R:C	SCN2A	1918	R	C	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.56e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1918:R:H	SCN2A	1918	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Epilepsy%2C idiopathic generalised	NA	unknown	hgmd	unknown	DM	8.56e-05	1	Epilepsy%2C idiopathic generalised	unknown	NA	NA	0	0	11738931
SCN2A:1918:R:H	SCN2A	1918	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	unknown	unknown	8.56e-05	unknown	DEE	unknown	NA	NA	0	0	28379373
SCN2A:1918:R:H	SCN2A	1918	R	H	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.56e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1930:S:G	SCN2A	1930	S	G	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Uncertain significance	4.073e-06	2	Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant	maf_pathogenic	NA	NA	0	0	VariationID_331742
SCN2A:1933:K:M	SCN2A	1933	K	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	Encephalopathy with late-onset epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Encephalopathy with late-onset epilepsy	maf_pathogenic	NA	NA	0	1	28379373,28688840
SCN2A:1933:K:M	SCN2A	1933	K	M	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	lof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1936:K:N	SCN2A	1936	K	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	gof	JohannesenK_MoellerR_SCN2A	(Likely)pathogenic	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	1	1	28379373
SCN2A:1940:C:F	SCN2A	1940	C	F	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.142e-06	2	not specified	unknown	NA	NA	0	0	VariationID_207030
SCN2A:1947:E:K	SCN2A	1947	E	K	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1948:D:V	SCN2A	1948	D	V	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.069e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_424330
SCN2A:1952:D:N	SCN2A	1952	D	N	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN2A:1969:T:A	SCN2A	1969	T	A	ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_452514
SCN3A:2:A:V	SCN3A	2	A	V	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.07e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:13:S:I	SCN3A	13	S	I	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:15:R:H	SCN3A	15	R	H	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001911	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:32:E:G	SCN3A	32	E	G	ENST00000360093	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	unknown	NA	NA	0	0	VariationID_493287
SCN3A:51:P:L	SCN3A	51	P	L	ENST00000360093	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	unknown	NA	NA	0	0	VariationID_521703
SCN3A:99:I:V	SCN3A	99	I	V	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.856e-05	2	not specified	unknown	NA	NA	0	0	VariationID_197285
SCN3A:138:I:V	SCN3A	138	I	V	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:187:R:H	SCN3A	187	R	H	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001098	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:247:L:P	SCN3A	247	L	P	ENST00000360093	Epilepsy%2C focal	NA	unknown	hgmd	unknown	DM	0	2	Epilepsy%2C focal	unknown	NA	NA	0	0	28235671
SCN3A:264:I:T	SCN3A	264	I	T	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.061e-06	2	not specified	unknown	NA	NA	0	0	VariationID_403870
SCN3A:284:D:N	SCN3A	284	D	N	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.28e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:302:N:S	SCN3A	302	N	S	ENST00000360093	Epilepsy	NA	unknown	hgmd	unknown	DM	0	2	Epilepsy	unknown	NA	NA	0	0	24990319,24990319
SCN3A:354:K:Q	SCN3A	354	K	Q	ENST00000360093	SCN3A- Related Disorder	NA	unknown	clinvar	unknown	not provided	0	1	SCN3A- Related Disorder	unknown	NA	NA	0	0	VariationID_440968
SCN3A:354:K:Q	SCN3A	354	K	Q	ENST00000360093	Epilepsy%2C cryptogenic pediatric partial	NA	unknown	hgmd	unknown	DM	0	2	Epilepsy%2C cryptogenic pediatric partial	unknown	NA	NA	0	0	18242854,20420834,24157691
SCN3A:357:R:Q	SCN3A	357	R	Q	ENST00000360093	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4	NA	unknown	clinvar	unknown	Pathogenic	4.873e-05	1	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4	unknown	NA	NA	0	0	VariationID_522563
SCN3A:357:R:Q	SCN3A	357	R	Q	ENST00000360093	Epilepsy%2C focal	NA	unknown	hgmd	unknown	DM	4.873e-05	2	Epilepsy%2C focal	unknown	NA	NA	0	0	24157691
SCN3A:357:R:Q	SCN3A	357	R	Q	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.873e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:423:V:M	SCN3A	423	V	M	ENST00000360093	ASD_noE	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	0	2	ASD_noE	unknown	NA	NA	0	0	29942082
SCN3A:443:A:T	SCN3A	443	A	T	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:444:E:K	SCN3A	444	E	K	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_403871
SCN3A:450:E:K	SCN3A	450	E	K	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.625e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:463:A:V	SCN3A	463	A	V	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.663e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:475:I:L	SCN3A	475	I	L	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_286280
SCN3A:502:R:Q	SCN3A	502	R	Q	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.627e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:507:R:K	SCN3A	507	R	K	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.941e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:531:S:T	SCN3A	531	S	T	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:532:V:A	SCN3A	532	V	A	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.625e-05	2	not specified	unknown	NA	NA	0	0	VariationID_403873
SCN3A:540:S:F	SCN3A	540	S	F	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.001552	0	not specified	unknown	NA	NA	0	0	VariationID_194080
SCN3A:540:S:F	SCN3A	540	S	F	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001552	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:554:S:A	SCN3A	554	S	A	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:563:R:C	SCN3A	563	R	C	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0002002	2	not specified	unknown	NA	NA	0	0	VariationID_403867
SCN3A:587:V:A	SCN3A	587	V	A	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_194239
SCN3A:614:P:L	SCN3A	614	P	L	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.136e-06	2	not specified	unknown	NA	NA	0	0	VariationID_403864
SCN3A:619:E:K	SCN3A	619	E	K	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.133e-06	2	not specified	unknown	NA	NA	0	0	VariationID_426932
SCN3A:621:R:C	SCN3A	621	R	C	ENST00000360093	Febrile seizures	NA	unknown	hgmd	unknown	DM	0	1	Febrile seizures	unknown	NA	NA	0	0	28074849
SCN3A:627:Q:R	SCN3A	627	Q	R	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.132e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:668:G:E	SCN3A	668	G	E	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0002845	3	not specified	unknown	NA	NA	0	0	VariationID_194238
SCN3A:670:L:F	SCN3A	670	L	F	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Likely benign	0.0001788	2	not specified	unknown	NA	NA	0	0	VariationID_240707
SCN3A:674:G:D	SCN3A	674	G	D	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.442e-05	2	not specified	unknown	NA	NA	0	0	VariationID_240708
SCN3A:720:E:D	SCN3A	720	E	D	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.000114	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:726:C:R	SCN3A	726	C	R	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:804:T:I	SCN3A	804	T	I	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_432869
SCN3A:815:D:N	SCN3A	815	D	N	ENST00000360093	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4	NA	unknown	clinvar	unknown	Pathogenic	1.228e-05	1	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4	unknown	NA	NA	0	0	VariationID_522564
SCN3A:815:D:N	SCN3A	815	D	N	ENST00000360093	Epilepsy%2C focal	NA	unknown	hgmd	unknown	DM	1.228e-05	2	Epilepsy%2C focal	unknown	NA	NA	0	0	24157691
SCN3A:817:Y:H	SCN3A	817	Y	H	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.313e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:826:I:T	SCN3A	826	I	T	ENST00000360093	Neurodevelopmental disorder	NA	unknown	hgmd	unknown	DM	0	2	Neurodevelopmental disorder	unknown	NA	NA	0	0	28628100
SCN3A:875:I:T	SCN3A	875	I	T	ENST00000360093	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Pathogenic/Likely pathogenic	0	2	Developmental delay;Early infantile epileptic encephalopathy 62;Polymicrogyria;not provided	unknown	NA	NA	0	0	VariationID_373960
SCN3A:875:I:T	SCN3A	875	I	T	ENST00000360093	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	0	2	DD_E	unknown	NA	NA	0	0	29942082
SCN3A:875:I:T	SCN3A	875	I	T	ENST00000360093	ID_E	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	0	2	ID_E	unknown	NA	NA	0	0	29942082
SCN3A:901:M:T	SCN3A	901	M	T	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_424517
SCN3A:1043:N:D	SCN3A	1043	N	D	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.064e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:1060:E:Q	SCN3A	1060	E	Q	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.126e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:1078:S:G	SCN3A	1078	S	G	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.062e-06	2	not specified	unknown	NA	NA	0	0	VariationID_403872
SCN3A:1084:V:I	SCN3A	1084	V	I	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.005065	3	not specified	unknown	NA	NA	0	0	VariationID_194857
SCN3A:1084:V:I	SCN3A	1084	V	I	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.005065	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:1085:I:V	SCN3A	1085	I	V	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.124e-06	2	not specified	unknown	NA	NA	0	0	VariationID_194858
SCN3A:1149:P:R	SCN3A	1149	P	R	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.064e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:1154:Q:K	SCN3A	1154	Q	K	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:1160:E:K	SCN3A	1160	E	K	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.032e-05	2	not specified	unknown	NA	NA	0	0	VariationID_240709
SCN3A:1160:E:K	SCN3A	1160	E	K	ENST00000360093	Epilepsy%2C focal	NA	unknown	hgmd	unknown	DM	2.032e-05	2	Epilepsy%2C focal	unknown	NA	NA	0	0	24157691
SCN3A:1162:D:E	SCN3A	1162	D	E	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:1165:P:L	SCN3A	1165	P	L	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:1189:G:E	SCN3A	1189	G	E	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_403868
SCN3A:1265:Q:H	SCN3A	1265	Q	H	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_432287
SCN3A:1292:L:F	SCN3A	1292	L	F	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_432345
SCN3A:1330:G:E	SCN3A	1330	G	E	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_403865
SCN3A:1333:P:L	SCN3A	1333	P	L	ENST00000360093	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Pathogenic	0	2	Early infantile epileptic encephalopathy 62;not provided	unknown	NA	NA	0	0	VariationID_379838
SCN3A:1372:M:V	SCN3A	1372	M	V	ENST00000360093	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4	NA	unknown	clinvar	unknown	Pathogenic	2.437e-05	1	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4	unknown	NA	NA	0	0	VariationID_522565
SCN3A:1372:M:V	SCN3A	1372	M	V	ENST00000360093	Epilepsy%2C focal	NA	unknown	hgmd	unknown	DM	2.437e-05	2	Epilepsy%2C focal	unknown	NA	NA	0	0	24157691
SCN3A:1373:F:L	SCN3A	1373	F	L	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.625e-05	2	not specified	unknown	NA	NA	0	0	VariationID_432881
SCN3A:1491:K:R	SCN3A	1491	K	R	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.845e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:1621:R:Q	SCN3A	1621	R	Q	ENST00000360093	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	unknown	NA	NA	0	0	VariationID_432534
SCN3A:1621:R:Q	SCN3A	1621	R	Q	ENST00000360093	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	0	2	DD_E	unknown	NA	NA	0	0	29942082
SCN3A:1642:R:C	SCN3A	1642	R	C	ENST00000360093	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	unknown	NA	NA	0	0	VariationID_521103
SCN3A:1734:G:R	SCN3A	1734	G	R	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.062e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:1769:V:A	SCN3A	1769	V	A	ENST00000360093	epileptic_encephalopathy	NA	unknown	clinvar	unknown	Pathogenic/Likely pathogenic	0	2	Early infantile epileptic encephalopathy 62;Inborn genetic diseases	unknown	NA	NA	0	0	VariationID_521063
SCN3A:1786:S:G	SCN3A	1786	S	G	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:1803:D:N	SCN3A	1803	D	N	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Benign	0.001328	2	not specified	unknown	NA	NA	0	0	VariationID_240713
SCN3A:1804:A:V	SCN3A	1804	A	V	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.437e-05	2	not specified	unknown	NA	NA	0	0	VariationID_288988
SCN3A:1809:E:K	SCN3A	1809	E	K	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	7.719e-05	2	not specified	unknown	NA	NA	0	0	VariationID_403875
SCN3A:1809:E:K	SCN3A	1809	E	K	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	7.719e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:1861:L:F	SCN3A	1861	L	F	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.627e-05	2	not specified	unknown	NA	NA	0	0	VariationID_403866
SCN3A:1862:G:C	SCN3A	1862	G	C	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Benign	0.02145	2	not specified	unknown	NA	NA	0	0	VariationID_240715
SCN3A:1862:G:C	SCN3A	1862	G	C	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.02145	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:1864:S:I	SCN3A	1864	S	I	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_426866
SCN3A:1886:V:I	SCN3A	1886	V	I	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_240716
SCN3A:1900:E:G	SCN3A	1900	E	G	ENST00000360093	Autism spectrum disorder	NA	unknown	hgmd	unknown	DM	2.034e-05	1	Autism spectrum disorder	unknown	NA	NA	0	0	24467814
SCN3A:1942:Q:R	SCN3A	1942	Q	R	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.26e-05	2	not specified	unknown	NA	NA	0	0	VariationID_289275
SCN3A:1961:S:C	SCN3A	1961	S	C	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.643e-05	2	not specified	unknown	NA	NA	0	0	VariationID_431902
SCN3A:1961:S:C	SCN3A	1961	S	C	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.643e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:1983:K:Q	SCN3A	1983	K	Q	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.707e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:1999:Q:H	SCN3A	1999	Q	H	ENST00000360093	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	7.539e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN3A:1999:Q:P	SCN3A	1999	Q	P	ENST00000360093	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	unknown	NA	NA	0	0	VariationID_403874
SCN4A:18:R:S	SCN4A	18	R	S	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;not specified	NA	gof	clinvar	unknown	Uncertain significance	0.0003839	3	Hyperkalemic Periodic Paralysis Type 1;not specified	unknown	NA	NA	0	0	VariationID_436668
SCN4A:18:R:S	SCN4A	18	R	S	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003839	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:28:I:L	SCN4A	28	I	L	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.046e-05	3	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_324554
SCN4A:31:R:L	SCN4A	31	R	L	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.001162	3	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_255864
SCN4A:38:R:Q	SCN4A	38	R	Q	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.261e-05	2	not specified	unknown	NA	NA	0	0	VariationID_418478
SCN4A:52:R:Q	SCN4A	52	R	Q	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:52:R:W	SCN4A	52	R	W	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;not specified	NA	gof	clinvar	unknown	Benign	0.0007252	3	Hyperkalemic Periodic Paralysis Type 1;not specified	unknown	NA	NA	0	0	VariationID_477399
SCN4A:67:I:V	SCN4A	67	I	V	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.6e-05	2	not specified	unknown	NA	NA	0	0	VariationID_451656
SCN4A:69:G:R	SCN4A	69	G	R	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	maf_pathogenic	NA	NA	0	0	VariationID_324553
SCN4A:72:P:L	SCN4A	72	P	L	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonic dystrophy%2C type 2	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonic dystrophy%2C type 2	maf_pathogenic	NA	NA	0	1	25660391
SCN4A:81:E:Q	SCN4A	81	E	Q	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.001074	3	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_255846
SCN4A:83:L:P	SCN4A	83	L	P	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;not specified	NA	gof	clinvar	unknown	Benign/Likely benign	0.0003947	3	Hyperkalemic Periodic Paralysis Type 1;not specified	unknown	NA	NA	0	0	VariationID_426413
SCN4A:103:F:V	SCN4A	103	F	V	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.031e-05	2	not specified	unknown	NA	NA	0	0	VariationID_448271
SCN4A:104:R:H	SCN4A	104	R	H	ENST00000435607;NM_000334.4;XM_005257566.1	Myopathy%2C congenital	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myopathy%2C congenital	maf_pathogenic	NA	NA	0	1	26700687
SCN4A:119:V:I	SCN4A	119	V	I	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome, acetazolamide-responsive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Hypokalemic periodic paralysis, type 2;Paramyotonia congenita of von Eulenburg;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;Potassium aggravated myotonia;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.002409	0	Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome, acetazolamide-responsive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Hypokalemic periodic paralysis, type 2;Paramyotonia congenita of von Eulenburg;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;Potassium aggravated myotonia;not provided;not specified	unknown	NA	NA	0	0	VariationID_324552
SCN4A:119:V:I	SCN4A	119	V	I	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.002409	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:122:R:C	SCN4A	122	R	C	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Likely benign	5.688e-05	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324551
SCN4A:122:R:H	SCN4A	122	R	H	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Likely benign	5.282e-05	2	not specified	unknown	NA	NA	0	0	VariationID_448276
SCN4A:122:R:H	SCN4A	122	R	H	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.282e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:127:V:M	SCN4A	127	V	M	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.219e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:128:L:P	SCN4A	128	L	P	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	unknown	DM	0	1	Myotonia	maf_pathogenic	NA	NA	0	0	23810313
SCN4A:135:M:L	SCN4A	135	M	L	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.000799	0	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided;not specified	unknown	NA	NA	0	0	VariationID_255852
SCN4A:135:M:L	SCN4A	135	M	L	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.000799	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:135:M:T	SCN4A	135	M	T	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;not specified	NA	gof	clinvar	unknown	Benign	0.001125	3	Hyperkalemic Periodic Paralysis Type 1;not specified	unknown	NA	NA	0	0	VariationID_477420
SCN4A:135:M:T	SCN4A	135	M	T	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001125	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:141:I:V	SCN4A	141	I	V	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita of von Eulenburg	NA	gof	clinvar	unknown	Pathogenic	0	1	Paramyotonia congenita of von Eulenburg	maf_pathogenic	NA	NA	0	0	VariationID_5924
SCN4A:141:I:V	SCN4A	141	I	V	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	19015483
SCN4A:150:M:L	SCN4A	150	M	L	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Likely benign	0.0002484	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477423
SCN4A:185:D:N	SCN4A	185	D	N	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.51e-05	3	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_197134
SCN4A:198:F:L	SCN4A	198	F	L	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_432825
SCN4A:199:S:G	SCN4A	199	S	G	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:202:M:I	SCN4A	202	M	I	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	4.592e-06	2	Hyperkalemic Periodic Paralysis Type 1	maf_pathogenic	NA	NA	0	0	VariationID_477429
SCN4A:203:M:K	SCN4A	203	M	K	ENST00000435607;NM_000334.4;XM_005257566.1	Myopathy%2C congenital	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myopathy%2C congenital	maf_pathogenic	NA	NA	0	1	26700687
SCN4A:204:A:V	SCN4A	204	A	V	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	5.24e-05	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477430
SCN4A:215:I:T	SCN4A	215	I	T	ENST00000435607;NM_000334.4;XM_005257566.1	not provided;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	3	not provided;not specified	maf_pathogenic	NA	NA	0	0	VariationID_432742
SCN4A:222:R:W	SCN4A	222	R	W	ENST00000435607;NM_000334.4;XM_005257566.1	Hypokalemic periodic paralysis, type 2	NA	lof	clinvar	unknown	Pathogenic	5.672e-06	1	Hypokalemic periodic paralysis, type 2	maf_pathogenic	NA	NA	0	0	VariationID_143199
SCN4A:222:R:W	SCN4A	222	R	W	ENST00000435607;NM_000334.4;XM_005257566.1	Hypokalaemic periodic paralysis	NA	lof	hgmd	(Likely)pathogenic	DM	5.672e-06	2	Hypokalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	19118277
SCN4A:225:R:Q	SCN4A	225	R	Q	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	2.887e-05	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477431
SCN4A:225:R:W	SCN4A	225	R	W	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia%2C non-dystrophic	NA	unknown	hgmd	unknown	DM	3.459e-05	2	Myotonia%2C non-dystrophic	unknown	NA	NA	0	0	20076800,26700687
SCN4A:231:T:M	SCN4A	231	T	M	ENST00000435607;NM_000334.4;XM_005257566.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Likely pathogenic	1.206e-05	2	Inborn genetic diseases	unknown	NA	NA	0	0	VariationID_521304
SCN4A:238:T:M	SCN4A	238	T	M	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.469e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:239:I:N	SCN4A	239	I	N	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448287
SCN4A:246:S:L	SCN4A	246	S	L	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital myasthenic syndrome;Congenital myasthenic syndrome, acetazolamide-responsive;Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	1	Congenital myasthenic syndrome;Congenital myasthenic syndrome, acetazolamide-responsive;Hyperkalemic Periodic Paralysis Type 1	maf_pathogenic	NA	NA	0	0	VariationID_21161
SCN4A:250:L:P	SCN4A	250	L	P	ENST00000435607;NM_000334.4;XM_005257566.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_381540
SCN4A:250:L:P	SCN4A	250	L	P	ENST00000435607;NM_000334.4;XM_005257566.1	Isolated eyelid closure myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Isolated eyelid closure myotonia	maf_pathogenic	NA	NA	0	1	19876661
SCN4A:266:L:V	SCN4A	266	L	V	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	11294924
SCN4A:275:N:K	SCN4A	275	N	K	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita of von Eulenburg	NA	gof	clinvar	unknown	Uncertain significance	0	2	Paramyotonia congenita of von Eulenburg	maf_pathogenic	NA	NA	0	0	VariationID_520410
SCN4A:286:P:L	SCN4A	286	P	L	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.625e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:306:W:G	SCN4A	306	W	G	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.122e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:318:W:R	SCN4A	318	W	R	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Inborn genetic diseases;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0006254	0	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Inborn genetic diseases;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_252477
SCN4A:318:W:R	SCN4A	318	W	R	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0006254	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:323:T:M	SCN4A	323	T	M	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.008643	3	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided;not specified	unknown	NA	NA	0	0	VariationID_21162
SCN4A:323:T:M	SCN4A	323	T	M	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.008643	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:334:D:N	SCN4A	334	D	N	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.035e-05	2	not specified	unknown	NA	NA	0	0	VariationID_429533
SCN4A:337:D:H	SCN4A	337	D	H	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	7.328e-05	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477397
SCN4A:340:A:T	SCN4A	340	A	T	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001915	2	not specified	unknown	NA	NA	0	0	VariationID_429845
SCN4A:340:A:T	SCN4A	340	A	T	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001915	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:374:E:K	SCN4A	374	E	K	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	0.0001434	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324546
SCN4A:375:C:R	SCN4A	375	C	R	ENST00000435607;NM_000334.4;XM_005257566.1	Myopathy%2C congenital with corona fibres%2C muscle atrophy & craniosynostosis	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myopathy%2C congenital with corona fibres%2C muscle atrophy & craniosynostosis	maf_pathogenic	NA	NA	0	1	28262468
SCN4A:378:T:I	SCN4A	378	T	I	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_432445
SCN4A:382:P:T	SCN4A	382	P	T	ENST00000435607;NM_000334.4;XM_005257566.1	Myopathy%2C congenital	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myopathy%2C congenital	maf_pathogenic	NA	NA	0	1	26700687
SCN4A:398:A:T	SCN4A	398	A	T	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	0	2	Hyperkalemic Periodic Paralysis Type 1	maf_pathogenic	NA	NA	0	0	VariationID_477398
SCN4A:430:I:V	SCN4A	430	I	V	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Likely benign	0.0004671	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324544
SCN4A:430:I:V	SCN4A	430	I	V	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0004671	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:440:N:K	SCN4A	440	N	K	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Pathogenic	0	1	Hyperkalemic Periodic Paralysis Type 1	maf_pathogenic	NA	NA	0	0	VariationID_221261
SCN4A:440:N:K	SCN4A	440	N	K	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	22106717,22914841
SCN4A:445:V:L	SCN4A	445	V	L	ENST00000435607;NM_000334.4;XM_005257566.1	Muscle weakness;Myotonia;Myotonia congenita	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Muscle weakness;Myotonia;Myotonia congenita	maf_pathogenic	NA	NA	0	0	VariationID_373945
SCN4A:445:V:L	SCN4A	445	V	L	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;not specified	NA	gof	clinvar	unknown	Uncertain significance	0	3	Hyperkalemic Periodic Paralysis Type 1;not specified	maf_pathogenic	NA	NA	0	0	VariationID_448262
SCN4A:445:V:M	SCN4A	445	V	M	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Potassium aggravated myotonia;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	4.068e-06	3	Hyperkalemic Periodic Paralysis Type 1;Potassium aggravated myotonia;not provided	maf_pathogenic	NA	NA	1	1	VariationID_5910
SCN4A:445:V:M	SCN4A	445	V	M	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	4.068e-06	2	Myotonia	maf_pathogenic	NA	NA	0	1	9392583,22653516,25839108,27415035,25724373
SCN4A:452:E:D	SCN4A	452	E	D	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	4.063e-06	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	maf_pathogenic	NA	NA	0	0	VariationID_324543
SCN4A:452:E:K	SCN4A	452	E	K	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia%2C non-dystrophic	NA	unknown	hgmd	unknown	DM	8.941e-05	2	Myotonia%2C non-dystrophic	unknown	NA	NA	0	0	18337100
SCN4A:452:E:K	SCN4A	452	E	K	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.941e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:463:E:Q	SCN4A	463	E	Q	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.625e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:471:M:I	SCN4A	471	M	I	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Likely benign	0.0006174	3	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324542
SCN4A:471:M:I	SCN4A	471	M	I	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0006174	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:477:K:R	SCN4A	477	K	R	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.001389	3	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_324541
SCN4A:488:A:T	SCN4A	488	A	T	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0005588	0	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_324540
SCN4A:488:A:T	SCN4A	488	A	T	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0005588	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:507:N:S	SCN4A	507	N	S	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001514	2	not specified	unknown	NA	NA	0	0	VariationID_430131
SCN4A:518:G:E	SCN4A	518	G	E	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.205e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_436667
SCN4A:524:S:G	SCN4A	524	S	G	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome, acetazolamide-responsive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Hypokalemic periodic paralysis, type 2;Paramyotonia congenita of von Eulenburg;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Benign	0.9302	3	Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome, acetazolamide-responsive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Hypokalemic periodic paralysis, type 2;Paramyotonia congenita of von Eulenburg;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_130228
SCN4A:526:G:R	SCN4A	526	G	R	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Likely benign	0.0001533	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477400
SCN4A:532:D:N	SCN4A	532	D	N	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	2.615e-05	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324539
SCN4A:541:H:Q	SCN4A	541	H	Q	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002739	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:588:I:V	SCN4A	588	I	V	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia & periodic paralysis	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia & periodic paralysis	maf_pathogenic	NA	NA	0	1	25348630
SCN4A:599:H:R	SCN4A	599	H	R	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome, acetazolamide-responsive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Hypokalemic periodic paralysis, type 2;Paramyotonia congenita of von Eulenburg;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;Potassium aggravated myotonia;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.002788	0	Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome, acetazolamide-responsive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Hypokalemic periodic paralysis, type 2;Paramyotonia congenita of von Eulenburg;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;Potassium aggravated myotonia;not provided;not specified	unknown	NA	NA	0	0	VariationID_324537
SCN4A:599:H:R	SCN4A	599	H	R	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.002788	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:612:V:E	SCN4A	612	V	E	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_426575
SCN4A:642:W:C	SCN4A	642	W	C	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.499e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:669:R:H	SCN4A	669	R	H	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis 1;Hypokalemic periodic paralysis, type 2	NA	unknown	clinvar	unknown	Pathogenic	8.149e-06	1	Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis 1;Hypokalemic periodic paralysis, type 2	unknown	NA	NA	0	0	VariationID_5911
SCN4A:669:R:H	SCN4A	669	R	H	ENST00000435607;NM_000334.4;XM_005257566.1	Hypokalaemic periodic paralysis	NA	lof	hgmd	unknown	DM	8.149e-06	2	Hypokalaemic periodic paralysis	unknown	NA	NA	0	0	10599760,18162704,25024265,21881211
SCN4A:671:F:L	SCN4A	671	F	L	ENST00000435607;NM_000334.4;XM_005257566.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_391923
SCN4A:671:F:S	SCN4A	671	F	S	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia%2C non-dystrophic	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia%2C non-dystrophic	maf_pathogenic	NA	NA	0	1	18337100,26252573
SCN4A:672:R:C	SCN4A	672	R	C	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis 1	NA	unknown	clinvar	unknown	Pathogenic	0	1	Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis 1	maf_pathogenic	NA	NA	0	0	VariationID_21151
SCN4A:672:R:C	SCN4A	672	R	C	ENST00000435607;NM_000334.4;XM_005257566.1	Hypokalaemic periodic paralysis	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Hypokalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	15482957,18824591
SCN4A:672:R:G	SCN4A	672	R	G	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis 1;Hypokalemic periodic paralysis, type 2	NA	unknown	clinvar	unknown	Pathogenic	0	1	Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis 1;Hypokalemic periodic paralysis, type 2	maf_pathogenic	NA	NA	0	0	VariationID_5913
SCN4A:672:R:G	SCN4A	672	R	G	ENST00000435607;NM_000334.4;XM_005257566.1	Hypokalaemic periodic paralysis	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Hypokalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	10944223,19225109,25024265,20660662,17330043,18824591
SCN4A:672:R:H	SCN4A	672	R	H	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis 1;Hypokalemic periodic paralysis, type 2	NA	unknown	clinvar	unknown	Pathogenic	1.226e-05	1	Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis 1;Hypokalemic periodic paralysis, type 2	unknown	NA	NA	0	0	VariationID_5912
SCN4A:672:R:H	SCN4A	672	R	H	ENST00000435607;NM_000334.4;XM_005257566.1	Hypokalaemic periodic paralysis	NA	lof	hgmd	unknown	DM	1.226e-05	2	Hypokalaemic periodic paralysis	unknown	NA	NA	0	0	10944223,19225109,23019082,20660662,18824591
SCN4A:672:R:S	SCN4A	672	R	S	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis 1;Hypokalemic periodic paralysis, type 2	NA	unknown	clinvar	unknown	Pathogenic	0	1	Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis 1;Hypokalemic periodic paralysis, type 2	maf_pathogenic	NA	NA	0	0	VariationID_5916
SCN4A:672:R:S	SCN4A	672	R	S	ENST00000435607;NM_000334.4;XM_005257566.1	Hypokalaemic periodic paralysis	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Hypokalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	11558801,18824591
SCN4A:675:R:G	SCN4A	675	R	G	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Normokalemic periodic paralysis, potassium-sensitive	NA	unknown	clinvar	unknown	Pathogenic	0	1	Hyperkalemic Periodic Paralysis Type 1;Normokalemic periodic paralysis, potassium-sensitive	maf_pathogenic	NA	NA	0	0	VariationID_5918
SCN4A:675:R:G	SCN4A	675	R	G	ENST00000435607;NM_000334.4;XM_005257566.1	Normokalaemic periodic paralysis	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Normokalaemic periodic paralysis	maf_pathogenic	NA	NA	0	1	15596759,19052238,22926674
SCN4A:675:R:Q	SCN4A	675	R	Q	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Myopathy;Normokalemic periodic paralysis, potassium-sensitive;not provided	NA	unknown	clinvar	unknown	Pathogenic	8.297e-06	3	Hyperkalemic Periodic Paralysis Type 1;Myopathy;Normokalemic periodic paralysis, potassium-sensitive;not provided	unknown	NA	NA	0	0	VariationID_5919
SCN4A:675:R:Q	SCN4A	675	R	Q	ENST00000435607;NM_000334.4;XM_005257566.1	Normokalaemic periodic paralysis	NA	unknown	hgmd	unknown	DM	8.297e-06	2	Normokalaemic periodic paralysis	unknown	NA	NA	0	0	15596759,19225109,25839108,19052238,22926674,24682880,19065518,18046642
SCN4A:675:R:W	SCN4A	675	R	W	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Normokalemic periodic paralysis, potassium-sensitive	NA	unknown	clinvar	unknown	Pathogenic	1.246e-05	1	Hyperkalemic Periodic Paralysis Type 1;Normokalemic periodic paralysis, potassium-sensitive	unknown	NA	NA	0	0	VariationID_5902
SCN4A:675:R:W	SCN4A	675	R	W	ENST00000435607;NM_000334.4;XM_005257566.1	Normokalaemic periodic paralysis	NA	unknown	hgmd	unknown	DM	1.246e-05	2	Normokalaemic periodic paralysis	unknown	NA	NA	0	0	15596759,19052238
SCN4A:689:L:I	SCN4A	689	L	I	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Pathogenic	0	1	Hyperkalemic Periodic Paralysis Type 1	maf_pathogenic	NA	NA	0	0	VariationID_21152
SCN4A:689:L:I	SCN4A	689	L	I	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalaemic periodic paralysis	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hyperkalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	11971097,23401572
SCN4A:689:L:V	SCN4A	689	L	V	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalaemic periodic paralysis	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hyperkalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	15534250
SCN4A:692:I:M	SCN4A	692	I	M	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalaemic periodic paralysis	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hyperkalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	27714768
SCN4A:693:I:L	SCN4A	693	I	L	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia & periodic paralysis	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia & periodic paralysis	maf_pathogenic	NA	NA	0	1	22257501,25724373
SCN4A:693:I:M	SCN4A	693	I	M	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	25088311
SCN4A:693:I:T	SCN4A	693	I	T	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita of von Eulenburg;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita of von Eulenburg;not provided	maf_pathogenic	NA	NA	1	1	VariationID_5923
SCN4A:693:I:T	SCN4A	693	I	T	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	8902732,26494408,22926674
SCN4A:699:A:T	SCN4A	699	A	T	ENST00000435607;NM_000334.4;XM_005257566.1	Handgrip myotonia;Myotonia;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Handgrip myotonia;Myotonia;not specified	maf_pathogenic	NA	NA	0	0	VariationID_374058
SCN4A:699:A:V	SCN4A	699	A	V	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	0	2	Hyperkalemic Periodic Paralysis Type 1	maf_pathogenic	NA	NA	0	0	VariationID_477403
SCN4A:704:T:M	SCN4A	704	T	M	ENST00000435607;NM_000334.4;XM_005257566.1	Familial hyperkalemic periodic paralysis;Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita/hyperkalemic periodic paralysis;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Familial hyperkalemic periodic paralysis;Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita/hyperkalemic periodic paralysis;not provided	maf_pathogenic	NA	NA	1	1	VariationID_5896
SCN4A:704:T:M	SCN4A	704	T	M	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalaemic periodic paralysis	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hyperkalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	1659948,10366610,26256659,19077043,16870577,23527931,7809121
SCN4A:715:A:S	SCN4A	715	A	S	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	22094069
SCN4A:717:V:A	SCN4A	717	V	A	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia%2C non-dystrophic	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia%2C non-dystrophic	maf_pathogenic	NA	NA	0	1	23771340
SCN4A:727:K:R	SCN4A	727	K	R	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:729:C:R	SCN4A	729	C	R	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.061e-05	2	not specified	unknown	NA	NA	0	0	VariationID_451324
SCN4A:730:V:M	SCN4A	730	V	M	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Likely benign	0.0006295	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477404
SCN4A:730:V:M	SCN4A	730	V	M	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0006295	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:734:A:S	SCN4A	734	A	S	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	5.279e-05	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477405
SCN4A:745:H:R	SCN4A	745	H	R	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_430303
SCN4A:759:C:S	SCN4A	759	C	S	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	22094069
SCN4A:781:V:I	SCN4A	781	V	I	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.01057	3	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided;not specified	unknown	NA	NA	0	0	VariationID_21153
SCN4A:781:V:I	SCN4A	781	V	I	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalaemic periodic paralysis	NA	gof	hgmd	unknown	DM	0.01057	1	Hyperkalaemic periodic paralysis	unknown	NA	NA	0	0	7695243,20981092,9266738,27535533,18046642
SCN4A:781:V:I	SCN4A	781	V	I	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.01057	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:782:F:L	SCN4A	782	F	L	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_392988
SCN4A:796:L:V	SCN4A	796	L	V	ENST00000435607;NM_000334.4;XM_005257566.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_383923
SCN4A:799:A:S	SCN4A	799	A	S	ENST00000435607;NM_000334.4;XM_005257566.1	Episodic laryngospasm%2C severe neonatal	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Episodic laryngospasm%2C severe neonatal	maf_pathogenic	NA	NA	0	1	20713951
SCN4A:804:S:C	SCN4A	804	S	C	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448266
SCN4A:804:S:F	SCN4A	804	S	F	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita/myotonia congenita;Potassium aggravated myotonia;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	2	Paramyotonia congenita/myotonia congenita;Potassium aggravated myotonia;not provided	maf_pathogenic	NA	NA	1	1	VariationID_5901
SCN4A:804:S:F	SCN4A	804	S	F	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	1338909
SCN4A:807:A:T	SCN4A	807	A	T	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.106e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:808:D:N	SCN4A	808	D	N	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:827:G:W	SCN4A	827	G	W	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:855:M:V	SCN4A	855	M	V	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Likely benign	0.0001795	3	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_324534
SCN4A:855:M:V	SCN4A	855	M	V	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001795	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:859:G:E	SCN4A	859	G	E	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	4.626e-06	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	maf_pathogenic	NA	NA	0	0	VariationID_324533
SCN4A:863:G:R	SCN4A	863	G	R	ENST00000435607;NM_000334.4;XM_005257566.1	ASD_noE	NA	unknown	Heyneetal_NatGen18_DNV	unknown	unknown	1.356e-05	2	ASD_noE	unknown	NA	NA	0	0	29942082
SCN4A:875:P:S	SCN4A	875	P	S	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome, acetazolamide-responsive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Hypokalemic periodic paralysis, type 2;Paramyotonia congenita of von Eulenburg;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.001001	3	Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome, acetazolamide-responsive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Hypokalemic periodic paralysis, type 2;Paramyotonia congenita of von Eulenburg;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_324531
SCN4A:875:P:S	SCN4A	875	P	S	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001001	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:876:E:K	SCN4A	876	E	K	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	3.365e-05	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324530
SCN4A:882:P:Q	SCN4A	882	P	Q	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.0008973	3	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_324529
SCN4A:888:K:Q	SCN4A	888	K	Q	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	2.846e-05	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477407
SCN4A:906:S:T	SCN4A	906	S	T	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.009862	3	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_21154
SCN4A:908:E:K	SCN4A	908	E	K	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.006166	3	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided;not specified	unknown	NA	NA	0	0	VariationID_255847
SCN4A:916:N:K	SCN4A	916	N	K	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;not specified	NA	gof	clinvar	unknown	Benign/Likely benign	0.0005726	3	Hyperkalemic Periodic Paralysis Type 1;not specified	unknown	NA	NA	0	0	VariationID_194329
SCN4A:932:D:N	SCN4A	932	D	N	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	7.318e-05	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477408
SCN4A:937:T:P	SCN4A	937	T	P	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.629e-05	2	not specified	unknown	NA	NA	0	0	VariationID_501023
SCN4A:938:E:K	SCN4A	938	E	K	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.074e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448267
SCN4A:942:D:N	SCN4A	942	D	N	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	5.719e-05	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477409
SCN4A:954:P:L	SCN4A	954	P	L	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Likely benign	0.0001404	2	not specified	unknown	NA	NA	0	0	VariationID_511129
SCN4A:964:V:I	SCN4A	964	V	I	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;not specified	NA	gof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.001158	0	Hyperkalemic Periodic Paralysis Type 1;not specified	unknown	NA	NA	0	0	VariationID_432019
SCN4A:964:V:I	SCN4A	964	V	I	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001158	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:972:P:S	SCN4A	972	P	S	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.121e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:974:E:D	SCN4A	974	E	D	ENST00000435607;NM_000334.4;XM_005257566.1	Normokalaemic periodic paralysis with involuntary movements and generalised epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Normokalaemic periodic paralysis with involuntary movements and generalised epilepsy	maf_pathogenic	NA	NA	0	1	25193600
SCN4A:986:E:K	SCN4A	986	E	K	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.843e-05	2	not specified	unknown	NA	NA	0	0	VariationID_448268
SCN4A:986:E:K	SCN4A	986	E	K	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.843e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:998:C:R	SCN4A	998	C	R	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	0	2	Hyperkalemic Periodic Paralysis Type 1	maf_pathogenic	NA	NA	0	0	VariationID_477410
SCN4A:999:V:M	SCN4A	999	V	M	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	9.991e-05	0	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324525
SCN4A:1001:R:C	SCN4A	1001	R	C	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;not specified	NA	gof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001368	0	Hyperkalemic Periodic Paralysis Type 1;not specified	unknown	NA	NA	0	0	VariationID_451408
SCN4A:1001:R:C	SCN4A	1001	R	C	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001368	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:1011:Q:R	SCN4A	1011	Q	R	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448270
SCN4A:1020:L:V	SCN4A	1020	L	V	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	6.101e-05	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477412
SCN4A:1046:G:W	SCN4A	1046	G	W	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	8.558e-05	0	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_324524
SCN4A:1059:R:Q	SCN4A	1059	R	Q	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	3.667e-05	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477413
SCN4A:1061:I:V	SCN4A	1061	I	V	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.14e-06	2	not specified	unknown	NA	NA	0	0	VariationID_448272
SCN4A:1069:D:N	SCN4A	1069	D	N	ENST00000435607;NM_000334.4;XM_005257566.1	not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	1.219e-05	0	not provided;not specified	unknown	NA	NA	0	0	VariationID_281372
SCN4A:1069:D:Y	SCN4A	1069	D	Y	ENST00000435607;NM_000334.4;XM_005257566.1	Myopathy%2C congenital	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myopathy%2C congenital	maf_pathogenic	NA	NA	0	1	26700687
SCN4A:1120:S:L	SCN4A	1120	S	L	ENST00000435607;NM_000334.4;XM_005257566.1	Myopathy with ptosis and mild dystrophic pattern	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myopathy with ptosis and mild dystrophic pattern	maf_pathogenic	NA	NA	0	1	28003497
SCN4A:1126:K:I	SCN4A	1126	K	I	ENST00000435607;NM_000334.4;XM_005257566.1	Normokalaemic periodic paralysis with involuntary movements and generalised epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Normokalaemic periodic paralysis with involuntary movements and generalised epilepsy	maf_pathogenic	NA	NA	0	1	25193600
SCN4A:1129:R:Q	SCN4A	1129	R	Q	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis, type 2;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	8.549e-05	0	Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis, type 2;not specified	unknown	NA	NA	0	0	VariationID_143200
SCN4A:1129:R:Q	SCN4A	1129	R	Q	ENST00000435607;NM_000334.4;XM_005257566.1	Periodic paralysis	NA	unknown	hgmd	unknown	DM	8.549e-05	2	Periodic paralysis	unknown	NA	NA	0	0	20108424,20522878
SCN4A:1132:R:Q	SCN4A	1132	R	Q	ENST00000435607;NM_000334.4;XM_005257566.1	Hypokalemic periodic paralysis 1;Hypokalemic periodic paralysis, type 2;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Hypokalemic periodic paralysis 1;Hypokalemic periodic paralysis, type 2;not provided	maf_pathogenic	NA	NA	1	1	VariationID_21155
SCN4A:1132:R:Q	SCN4A	1132	R	Q	ENST00000435607;NM_000334.4;XM_005257566.1	Hypokalaemic periodic paralysis	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Hypokalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	16890191,21490317
SCN4A:1135:R:C	SCN4A	1135	R	C	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalaemic periodic paralysis	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hyperkalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	24549961
SCN4A:1135:R:H	SCN4A	1135	R	H	ENST00000435607;NM_000334.4;XM_005257566.1	Hypokalemic periodic paralysis, type 2;not provided	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Hypokalemic periodic paralysis, type 2;not provided	maf_pathogenic	NA	NA	1	1	VariationID_143201
SCN4A:1135:R:H	SCN4A	1135	R	H	ENST00000435607;NM_000334.4;XM_005257566.1	Hypokalaemic periodic paralysis	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Hypokalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	19118277,24549961
SCN4A:1136:P:S	SCN4A	1136	P	S	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:1142:R:Q	SCN4A	1142	R	Q	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	1.637e-05	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477417
SCN4A:1142:R:Q	SCN4A	1142	R	Q	ENST00000435607;NM_000334.4;XM_005257566.1	Myopathy%2C congenital with corona fibres%2C muscle atrophy & craniosynostosis	NA	unknown	hgmd	unknown	DM	1.637e-05	2	Myopathy%2C congenital with corona fibres%2C muscle atrophy & craniosynostosis	unknown	NA	NA	0	0	28262468
SCN4A:1149:V:L	SCN4A	1149	V	L	ENST00000435607;NM_000334.4;XM_005257566.1	Episodic paralyses and myotonic discharges	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Episodic paralyses and myotonic discharges	maf_pathogenic	NA	NA	0	1	25724373
SCN4A:1152:A:D	SCN4A	1152	A	D	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	15790667
SCN4A:1156:A:S	SCN4A	1156	A	S	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.625e-05	2	not specified	unknown	NA	NA	0	0	VariationID_448274
SCN4A:1156:A:T	SCN4A	1156	A	T	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita/hyperkalemic periodic paralysis;not provided	NA	gof	clinvar	unknown	Pathogenic	6.095e-05	2	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita/hyperkalemic periodic paralysis;not provided	unknown	NA	NA	0	0	VariationID_5900
SCN4A:1156:A:T	SCN4A	1156	A	T	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	unknown	DM	6.095e-05	2	Paramyotonia congenita	unknown	NA	NA	0	0	1338909,28330959,28330959,22926674,7809121
SCN4A:1158:P:L	SCN4A	1158	P	L	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;not provided	NA	gof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Hyperkalemic Periodic Paralysis Type 1;not provided	maf_pathogenic	NA	NA	0	0	VariationID_448275
SCN4A:1158:P:L	SCN4A	1158	P	L	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	27164696
SCN4A:1158:P:S	SCN4A	1158	P	S	ENST00000435607;NM_000334.4;XM_005257566.1	Hypokalemic periodic paralysis, type 2	NA	lof	clinvar	unknown	Pathogenic	0	1	Hypokalemic periodic paralysis, type 2	maf_pathogenic	NA	NA	0	0	VariationID_5917
SCN4A:1158:P:S	SCN4A	1158	P	S	ENST00000435607;NM_000334.4;XM_005257566.1	Hypokalaemic periodic paralysis	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Hypokalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	10851391
SCN4A:1160:I:V	SCN4A	1160	I	V	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia congenita, atypical, acetazolamide-responsive;not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	3	Myotonia congenita, atypical, acetazolamide-responsive;not provided	maf_pathogenic	NA	NA	0	1	VariationID_5906
SCN4A:1160:I:V	SCN4A	1160	I	V	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	8058156,9336185
SCN4A:1166:V:A	SCN4A	1166	V	A	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	28552867
SCN4A:1180:N:I	SCN4A	1180	N	I	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia%2C neonatal-onset	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia%2C neonatal-onset	maf_pathogenic	NA	NA	0	1	25735906
SCN4A:1202:E:K	SCN4A	1202	E	K	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Likely benign	4.467e-05	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_130233
SCN4A:1208:E:Q	SCN4A	1208	E	Q	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	2.436e-05	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477418
SCN4A:1209:C:F	SCN4A	1209	C	F	ENST00000435607;NM_000334.4;XM_005257566.1	Myopathy%2C congenital	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myopathy%2C congenital	maf_pathogenic	NA	NA	0	1	26700687
SCN4A:1230:V:M	SCN4A	1230	V	M	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;not provided	NA	gof	clinvar	unknown	Conflicting interpretations of pathogenicity	4.478e-05	0	Hyperkalemic Periodic Paralysis Type 1;not provided	unknown	NA	NA	0	0	VariationID_384521
SCN4A:1258:E:K	SCN4A	1258	E	K	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	maf_pathogenic	NA	NA	0	0	VariationID_324521
SCN4A:1266:E:K	SCN4A	1266	E	K	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	0	2	Hyperkalemic Periodic Paralysis Type 1	maf_pathogenic	NA	NA	0	0	VariationID_477419
SCN4A:1279:I:V	SCN4A	1279	I	V	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.849e-05	2	not specified	unknown	NA	NA	0	0	VariationID_423775
SCN4A:1290:F:L	SCN4A	1290	F	L	ENST00000435607;NM_000334.4;XM_005257566.1	Periodic paralysis	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Periodic paralysis	maf_pathogenic	NA	NA	0	1	27653901
SCN4A:1292:G:D	SCN4A	1292	G	D	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia%2C non-dystrophic	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia%2C non-dystrophic	maf_pathogenic	NA	NA	0	1	22617007
SCN4A:1293:V:I	SCN4A	1293	V	I	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita of von Eulenburg;SCN4A-related disorder;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Paramyotonia congenita of von Eulenburg;SCN4A-related disorder;not provided	maf_pathogenic	NA	NA	1	1	VariationID_5909
SCN4A:1293:V:I	SCN4A	1293	V	I	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	8580427,27486940,24939454
SCN4A:1297:N:K	SCN4A	1297	N	K	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita/hyperkalemic periodic paralysis	NA	gof	clinvar	unknown	Pathogenic	0	1	Paramyotonia congenita/hyperkalemic periodic paralysis	maf_pathogenic	NA	NA	0	0	VariationID_5922
SCN4A:1297:N:K	SCN4A	1297	N	K	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia%2C non-dystrophic	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia%2C non-dystrophic	maf_pathogenic	NA	NA	0	1	18203179
SCN4A:1298:F:C	SCN4A	1298	F	C	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	3	not specified	maf_pathogenic	NA	NA	0	0	VariationID_287216
SCN4A:1306:G:A	SCN4A	1306	G	A	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	4.066e-06	3	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided	maf_pathogenic	NA	NA	1	1	VariationID_5908
SCN4A:1306:G:A	SCN4A	1306	G	A	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	4.066e-06	2	Myotonia	maf_pathogenic	NA	NA	0	1	8308722,26885337,25525159
SCN4A:1306:G:E	SCN4A	1306	G	E	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Potassium aggravated myotonia;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Hyperkalemic Periodic Paralysis Type 1;Potassium aggravated myotonia;not provided	maf_pathogenic	NA	NA	1	1	VariationID_5920
SCN4A:1306:G:E	SCN4A	1306	G	E	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	8308722,25088311,20713951,25311598
SCN4A:1306:G:V	SCN4A	1306	G	V	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	4.066e-06	3	Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided	maf_pathogenic	NA	NA	1	1	VariationID_5903
SCN4A:1306:G:V	SCN4A	1306	G	V	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	4.066e-06	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	1310898,25525159,27415035
SCN4A:1311:F:C	SCN4A	1311	F	C	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448277
SCN4A:1313:T:A	SCN4A	1313	T	A	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	14617673
SCN4A:1313:T:M	SCN4A	1313	T	M	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita of von Eulenburg;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	4.063e-06	3	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita of von Eulenburg;not provided	maf_pathogenic	NA	NA	1	1	VariationID_5904
SCN4A:1313:T:M	SCN4A	1313	T	M	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	4.063e-06	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	1310898,21220685,27415035,7809121
SCN4A:1323:M:K	SCN4A	1323	M	K	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:1337:R:P	SCN4A	1337	R	P	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	25088311
SCN4A:1337:R:Q	SCN4A	1337	R	Q	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.63e-05	2	not specified	unknown	NA	NA	0	0	VariationID_424123
SCN4A:1337:R:W	SCN4A	1337	R	W	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_391710
SCN4A:1346:V:M	SCN4A	1346	V	M	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448279
SCN4A:1351:T:M	SCN4A	1351	T	M	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	3.661e-05	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324520
SCN4A:1355:F:L	SCN4A	1355	F	L	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_432792
SCN4A:1360:M:V	SCN4A	1360	M	V	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	2	Hyperkalemic Periodic Paralysis Type 1	maf_pathogenic	NA	NA	1	1	VariationID_21156
SCN4A:1360:M:V	SCN4A	1360	M	V	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalaemic periodic paralysis	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hyperkalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	8215982,12562902
SCN4A:1363:I:T	SCN4A	1363	I	T	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	15534250
SCN4A:1366:N:S	SCN4A	1366	N	S	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	28940424
SCN4A:1370:M:V	SCN4A	1370	M	V	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Pathogenic	4.061e-06	1	Hyperkalemic Periodic Paralysis Type 1	maf_pathogenic	NA	NA	0	0	VariationID_21157
SCN4A:1370:M:V	SCN4A	1370	M	V	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalaemic periodic paralysis	NA	gof	hgmd	(Likely)pathogenic	DM	4.061e-06	2	Hyperkalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	11757950
SCN4A:1376:N:D	SCN4A	1376	N	D	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome, acetazolamide-responsive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Hypokalemic periodic paralysis, type 2;Paramyotonia congenita of von Eulenburg;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Benign	0.5218	3	Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome, acetazolamide-responsive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Hypokalemic periodic paralysis, type 2;Paramyotonia congenita of von Eulenburg;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_130236
SCN4A:1393:I:T	SCN4A	1393	I	T	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	19882638
SCN4A:1399:E:K	SCN4A	1399	E	K	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:1424:V:I	SCN4A	1424	V	I	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	1.226e-05	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477421
SCN4A:1428:I:V	SCN4A	1428	I	V	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	2.455e-05	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324519
SCN4A:1433:L:R	SCN4A	1433	L	R	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita of von Eulenburg	NA	gof	clinvar	unknown	Pathogenic	0	1	Paramyotonia congenita of von Eulenburg	maf_pathogenic	NA	NA	0	0	VariationID_5907
SCN4A:1433:L:R	SCN4A	1433	L	R	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	8388676,7809121
SCN4A:1434:S:P	SCN4A	1434	S	P	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia%2C non-dystrophic	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia%2C non-dystrophic	maf_pathogenic	NA	NA	0	1	23771340
SCN4A:1436:L:P	SCN4A	1436	L	P	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	18166706,21664816
SCN4A:1442:V:E	SCN4A	1442	V	E	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital myasthenic syndrome;Congenital myasthenic syndrome, acetazolamide-responsive	NA	unknown	clinvar	unknown	Pathogenic	0	1	Congenital myasthenic syndrome;Congenital myasthenic syndrome, acetazolamide-responsive	maf_pathogenic	NA	NA	0	0	VariationID_5914
SCN4A:1442:V:E	SCN4A	1442	V	E	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital myasthenic syndrome	NA	unknown	hgmd	unknown	DM	0	1	Congenital myasthenic syndrome	maf_pathogenic	NA	NA	0	0	12766226
SCN4A:1442:V:M	SCN4A	1442	V	M	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	1.292e-05	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324517
SCN4A:1448:R:C	SCN4A	1448	R	C	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita of von Eulenburg;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita of von Eulenburg;not provided	maf_pathogenic	NA	NA	1	1	VariationID_5898
SCN4A:1448:R:C	SCN4A	1448	R	C	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	1316765,8110459,12483017,8005599,7809121
SCN4A:1448:R:H	SCN4A	1448	R	H	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita of von Eulenburg;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita of von Eulenburg;not provided	maf_pathogenic	NA	NA	1	1	VariationID_5899
SCN4A:1448:R:H	SCN4A	1448	R	H	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	1316765,8110459,8005599,12562902,22507243,28779239,27415035,7809121
SCN4A:1448:R:L	SCN4A	1448	R	L	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	18166706
SCN4A:1448:R:P	SCN4A	1448	R	P	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Hyperkalemic Periodic Paralysis Type 1;not provided	maf_pathogenic	NA	NA	1	1	VariationID_221263
SCN4A:1448:R:P	SCN4A	1448	R	P	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	7676326,20038812
SCN4A:1448:R:S	SCN4A	1448	R	S	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Pathogenic	0	1	Hyperkalemic Periodic Paralysis Type 1	maf_pathogenic	NA	NA	0	0	VariationID_221262
SCN4A:1448:R:S	SCN4A	1448	R	S	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	10381583
SCN4A:1451:R:C	SCN4A	1451	R	C	ENST00000435607;NM_000334.4;XM_005257566.1	Periodic paralysis	NA	unknown	hgmd	unknown	DM	1.229e-05	2	Periodic paralysis	unknown	NA	NA	0	0	19201608
SCN4A:1451:R:H	SCN4A	1451	R	H	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;not specified	NA	gof	clinvar	unknown	Uncertain significance	0	3	Hyperkalemic Periodic Paralysis Type 1;not specified	maf_pathogenic	NA	NA	0	0	VariationID_448280
SCN4A:1454:R:W	SCN4A	1454	R	W	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital myasthenic syndrome	NA	unknown	clinvar	unknown	Pathogenic	1.632e-05	1	Congenital myasthenic syndrome	unknown	NA	NA	0	0	VariationID_243042
SCN4A:1454:R:W	SCN4A	1454	R	W	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital myasthenic syndrome with periodic paralysis	NA	unknown	hgmd	unknown	DM	1.632e-05	2	Congenital myasthenic syndrome with periodic paralysis	unknown	NA	NA	0	0	26659129
SCN4A:1455:I:S	SCN4A	1455	I	S	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448281
SCN4A:1455:I:T	SCN4A	1455	I	T	ENST00000435607;NM_000334.4;XM_005257566.1	Proximal myopathy%2C adult - onset with electrical myotonia	NA	unknown	hgmd	unknown	DM	8.149e-06	2	Proximal myopathy%2C adult - onset with electrical myotonia	unknown	NA	NA	0	0	28024841
SCN4A:1456:G:E	SCN4A	1456	G	E	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita of von Eulenburg	NA	gof	clinvar	unknown	Pathogenic	0	1	Paramyotonia congenita of von Eulenburg	maf_pathogenic	NA	NA	0	0	VariationID_5915
SCN4A:1456:G:E	SCN4A	1456	G	E	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita%2C von Eulenburg	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita%2C von Eulenburg	maf_pathogenic	NA	NA	1	1	10369308
SCN4A:1457:R:H	SCN4A	1457	R	H	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital myasthenic syndrome, acetazolamide-responsive	NA	unknown	clinvar	unknown	Pathogenic	4.073e-06	1	Congenital myasthenic syndrome, acetazolamide-responsive	maf_pathogenic	NA	NA	0	0	VariationID_217263
SCN4A:1457:R:H	SCN4A	1457	R	H	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital myasthenic syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	4.073e-06	2	Congenital myasthenic syndrome	maf_pathogenic	NA	NA	0	1	25707578
SCN4A:1458:V:D	SCN4A	1458	V	D	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita / sodium channel myotonia	NA	gof	hgmd	unknown	DM	0	1	Paramyotonia congenita / sodium channel myotonia	maf_pathogenic	NA	NA	0	0	26036855
SCN4A:1458:V:F	SCN4A	1458	V	F	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	9300659
SCN4A:1460:R:Q	SCN4A	1460	R	Q	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	21752396
SCN4A:1460:R:W	SCN4A	1460	R	W	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	2.034e-05	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477422
SCN4A:1461:L:P	SCN4A	1461	L	P	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	22094069
SCN4A:1473:F:S	SCN4A	1473	F	S	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	9300659,18690054
SCN4A:1476:M:I	SCN4A	1476	M	I	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita of von Eulenburg	NA	gof	clinvar	unknown	Pathogenic	4.061e-06	1	Paramyotonia congenita of von Eulenburg	maf_pathogenic	NA	NA	0	0	VariationID_5921
SCN4A:1476:M:I	SCN4A	1476	M	I	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	4.061e-06	2	Myotonia	maf_pathogenic	NA	NA	0	1	17998485,22250216
SCN4A:1476:M:T	SCN4A	1476	M	T	ENST00000435607;NM_000334.4;XM_005257566.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	3	not provided	maf_pathogenic	NA	NA	0	1	VariationID_421864
SCN4A:1476:M:T	SCN4A	1476	M	T	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	27060299
SCN4A:1481:A:D	SCN4A	1481	A	D	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	17212350
SCN4A:1488:L:P	SCN4A	1488	L	P	ENST00000435607;NM_000334.4;XM_005257566.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_380391
SCN4A:1489:L:F	SCN4A	1489	L	F	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448282
SCN4A:1490:F:L	SCN4A	1490	F	L	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	no interpretation for the single variant	0	1	Hyperkalemic Periodic Paralysis Type 1	maf_pathogenic	NA	NA	0	0	VariationID_402119
SCN4A:1493:M:I	SCN4A	1493	M	I	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	no interpretation for the single variant	0	1	Hyperkalemic Periodic Paralysis Type 1	maf_pathogenic	NA	NA	0	0	VariationID_21159
SCN4A:1495:I:F	SCN4A	1495	I	F	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Pathogenic	0	1	Hyperkalemic Periodic Paralysis Type 1	maf_pathogenic	NA	NA	0	0	VariationID_21160
SCN4A:1495:I:F	SCN4A	1495	I	F	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalaemic periodic paralysis	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hyperkalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	10366610
SCN4A:1506:Y:F	SCN4A	1506	Y	F	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.873e-05	2	not specified	unknown	NA	NA	0	0	VariationID_426715
SCN4A:1534:T:M	SCN4A	1534	T	M	ENST00000435607;NM_000334.4;XM_005257566.1	Abnormality of the nervous system	NA	unknown	hgmd	unknown	DM	8.121e-06	2	Abnormality of the nervous system	unknown	NA	NA	0	0	26633542
SCN4A:1537:G:S	SCN4A	1537	G	S	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;not provided	NA	gof	clinvar	unknown	Uncertain significance	6.904e-05	2	Hyperkalemic Periodic Paralysis Type 1;not provided	unknown	NA	NA	0	0	VariationID_222028
SCN4A:1537:G:S	SCN4A	1537	G	S	ENST00000435607;NM_000334.4;XM_005257566.1	Essential tremor	NA	unknown	hgmd	unknown	DM	6.904e-05	2	Essential tremor	unknown	NA	NA	0	0	26427606
SCN4A:1537:G:S	SCN4A	1537	G	S	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.904e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:1556:N:S	SCN4A	1556	N	S	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	1.219e-05	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324516
SCN4A:1563:S:N	SCN4A	1563	S	N	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.063e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:1564:V:I	SCN4A	1564	V	I	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.001625	0	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_195797
SCN4A:1564:V:I	SCN4A	1564	V	I	ENST00000435607;NM_000334.4;XM_005257566.1	Seizures	NA	unknown	hgmd	unknown	DM	0.001625	1	Seizures	unknown	NA	NA	0	0	24356988
SCN4A:1564:V:I	SCN4A	1564	V	I	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001625	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:1570:N:S	SCN4A	1570	N	S	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Likely benign	4.061e-05	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324515
SCN4A:1571:P:S	SCN4A	1571	P	S	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	8.935e-05	3	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324514
SCN4A:1589:V:M	SCN4A	1589	V	M	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided	maf_pathogenic	NA	NA	1	1	VariationID_5905
SCN4A:1589:V:M	SCN4A	1589	V	M	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	8242056,25755818
SCN4A:1592:M:I	SCN4A	1592	M	I	ENST00000435607;NM_000334.4;XM_005257566.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_280637
SCN4A:1592:M:I	SCN4A	1592	M	I	ENST00000435607;NM_000334.4;XM_005257566.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_427072
SCN4A:1592:M:V	SCN4A	1592	M	V	ENST00000435607;NM_000334.4;XM_005257566.1	Familial hyperkalemic periodic paralysis;Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita/hyperkalemic periodic paralysis;not provided	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Familial hyperkalemic periodic paralysis;Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita/hyperkalemic periodic paralysis;not provided	maf_pathogenic	NA	NA	1	1	VariationID_5897
SCN4A:1592:M:V	SCN4A	1592	M	V	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalaemic periodic paralysis	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Hyperkalaemic periodic paralysis	maf_pathogenic	NA	NA	1	1	1659668,21665479,19290024,21404612,23801527,24714718,24943082,18046642
SCN4A:1597:I:M	SCN4A	1597	I	M	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:1602:N:H	SCN4A	1602	N	H	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448283
SCN4A:1609:S:R	SCN4A	1609	S	R	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448284
SCN4A:1629:P:L	SCN4A	1629	P	L	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	0.0001543	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324512
SCN4A:1629:P:L	SCN4A	1629	P	L	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia with intermittent dysphagia	NA	unknown	hgmd	unknown	DM	0.0001543	1	Myotonia with intermittent dysphagia	unknown	NA	NA	0	0	28012096
SCN4A:1629:P:L	SCN4A	1629	P	L	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001543	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:1631:A:T	SCN4A	1631	A	T	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	3.655e-05	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324511
SCN4A:1633:Q:E	SCN4A	1633	Q	E	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia%2C potassium-aggravated	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia%2C potassium-aggravated	maf_pathogenic	NA	NA	0	1	19347921
SCN4A:1652:R:K	SCN4A	1652	R	K	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	0	2	Hyperkalemic Periodic Paralysis Type 1	maf_pathogenic	NA	NA	0	0	VariationID_477425
SCN4A:1696:A:T	SCN4A	1696	A	T	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.625e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:1702:E:G	SCN4A	1702	E	G	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448285
SCN4A:1702:E:K	SCN4A	1702	E	K	ENST00000435607;NM_000334.4;XM_005257566.1	Paramyotonia congenita	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paramyotonia congenita	maf_pathogenic	NA	NA	1	1	15534250
SCN4A:1705:F:I	SCN4A	1705	F	I	ENST00000435607;NM_000334.4;XM_005257566.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	3	not provided	maf_pathogenic	NA	NA	0	1	VariationID_420020
SCN4A:1705:F:I	SCN4A	1705	F	I	ENST00000435607;NM_000334.4;XM_005257566.1	Myotonia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Myotonia	maf_pathogenic	NA	NA	0	1	15774523,24324661,18690054
SCN4A:1709:N:S	SCN4A	1709	N	S	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1;not specified	NA	gof	clinvar	unknown	Uncertain significance	6.499e-05	3	Hyperkalemic Periodic Paralysis Type 1;not specified	unknown	NA	NA	0	0	VariationID_448286
SCN4A:1731:A:T	SCN4A	1731	A	T	ENST00000435607;NM_000334.4;XM_005257566.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001141	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN4A:1735:Q:H	SCN4A	1735	Q	H	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	1.625e-05	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324510
SCN4A:1762:G:R	SCN4A	1762	G	R	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	3.254e-05	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	unknown	NA	NA	0	0	VariationID_324508
SCN4A:1765:A:G	SCN4A	1765	A	G	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	maf_pathogenic	NA	NA	0	0	VariationID_324506
SCN4A:1765:A:T	SCN4A	1765	A	T	ENST00000435607;NM_000334.4;XM_005257566.1	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.0005003	3	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	unknown	NA	NA	0	0	VariationID_324507
SCN4A:1783:E:K	SCN4A	1783	E	K	ENST00000435607;NM_000334.4;XM_005257566.1	Hyperkalemic Periodic Paralysis Type 1	NA	gof	clinvar	unknown	Uncertain significance	2.844e-05	2	Hyperkalemic Periodic Paralysis Type 1	unknown	NA	NA	0	0	VariationID_477428
SCN4A:1823:P:R	SCN4A	1823	P	R	ENST00000435607;NM_000334.4;XM_005257566.1	not specified	NA	unknown	clinvar	unknown	Likely benign	0.0006634	2	not specified	unknown	NA	NA	0	0	VariationID_514878
SCN5A:2:A:T	SCN5A	2	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	1.236e-05	1	Brugada syndrome	maf_pathogenic	0.024390244	0.188617886	0	0	VariationID_67950
SCN5A:2:A:T	SCN5A	2	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	1.236e-05	2	Brugada syndrome	maf_pathogenic	0.024390244	0.188617886	0	0	20609320
SCN5A:8:R:Q	SCN5A	8	R	Q	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	3.682e-05	2	Cardiovascular phenotype	maf_pathogenic	0.013452915	0.014349776	0	0	VariationID_519065
SCN5A:9:G:V	SCN5A	9	G	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67751
SCN5A:9:G:V	SCN5A	9	G	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	16922724,23805106
SCN5A:15:R:G	SCN5A	15	R	G	ENST00000333535;NM_198056.2	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	3.669e-05	2	Sudden unexplained death	maf_pathogenic	0.014778325	0.015763547	0	0	24631775
SCN5A:15:R:M	SCN5A	15	R	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_463338
SCN5A:15:R:T	SCN5A	15	R	T	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.076e-05	2	not specified	maf_pathogenic	0.012345679	0.013168724	0	0	VariationID_165163
SCN5A:18:R:Q	SCN5A	18	R	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	6.923e-05	3	Congenital long QT syndrome;not specified	maf_pathogenic	0.116022099	0.042725599	0	0	VariationID_48306
SCN5A:18:R:Q	SCN5A	18	R	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	6.923e-05	2	Long QT syndrome	maf_pathogenic	0.116022099	0.042725599	0	0	19716085,23805106
SCN5A:18:R:W	SCN5A	18	R	W	ENST00000333535;NM_198056.2	Arrhythmogenic right ventricular cardiomyopathy;Brugada syndrome;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia type 1;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002648	0	Arrhythmogenic right ventricular cardiomyopathy;Brugada syndrome;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia type 1;not provided;not specified	unknown	0.015302728	0.002129075	0	0	VariationID_67978
SCN5A:18:R:W	SCN5A	18	R	W	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0002648	2	Long QT syndrome	unknown	0.015302728	0.002129075	0	0	15840476,23805106,20129283
SCN5A:22:A:V	SCN5A	22	A	V	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.139e-06	2	not specified	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_281662
SCN5A:25:E:K	SCN5A	25	E	K	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Uncertain significance	8.136e-06	2	not provided	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_191505
SCN5A:25:E:K	SCN5A	25	E	K	ENST00000333535;NM_198056.2	Atrial fibrillation	NA	unknown	hgmd	unknown	DM	8.136e-06	1	Atrial fibrillation	maf_pathogenic	0.047619048	0.050793651	0	0	28837624
SCN5A:27:R:C	SCN5A	27	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.627e-05	2	Brugada syndrome	maf_pathogenic	0.029126214	0.031067961	0	0	VariationID_463358
SCN5A:27:R:H	SCN5A	27	R	H	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome;Death in infancy;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002522	0	Brugada syndrome;Congenital long QT syndrome;Death in infancy;not specified	unknown	0.014715291	0.040435061	0	0	VariationID_68043
SCN5A:27:R:H	SCN5A	27	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0.0002522	2	Brugada syndrome	unknown	0.014715291	0.040435061	0	0	11901046,23805106,19716085,27435932
SCN5A:28:M:L	SCN5A	28	M	L	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	0.020979021	0.022377622	0	0	VariationID_450418
SCN5A:29:A:V	SCN5A	29	A	V	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.137e-05	2	not specified	unknown	0.042357274	0.005893186	0	0	VariationID_201428
SCN5A:29:A:V	SCN5A	29	A	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	8.137e-05	2	Long QT syndrome	unknown	0.042357274	0.005893186	0	0	23098067,28611029
SCN5A:30:E:G	SCN5A	30	E	G	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_68057
SCN5A:30:E:G	SCN5A	30	E	G	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:32:Q:R	SCN5A	32	Q	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_463363
SCN5A:34:R:C	SCN5A	34	R	C	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.008167	3	Brugada syndrome;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome;not provided;not specified	unknown	0.000992704	5.04e-05	0	0	VariationID_48279
SCN5A:34:R:C	SCN5A	34	R	C	ENST00000333535;NM_198056.2	Focal epilepsy	NA	unknown	hgmd	unknown	DM	0.008167	1	Focal epilepsy	unknown	0.000992704	5.04e-05	0	0	25119684,27884173
SCN5A:34:R:C	SCN5A	34	R	C	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.008167	unknown	DEE	unknown	0.000992704	5.04e-05	0	0	Heyne_etal_bioRxiv2019
SCN5A:34:R:H	SCN5A	34	R	H	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	not provided	4.476e-05	1	not provided	maf_pathogenic	0.010600707	0.01130742	0	0	VariationID_67627
SCN5A:34:R:H	SCN5A	34	R	H	ENST00000333535;NM_198056.2	Congenital complete heart block	NA	unknown	hgmd	unknown	DM	4.476e-05	2	Congenital complete heart block	maf_pathogenic	0.010600707	0.01130742	0	0	28018021
SCN5A:35:G:S	SCN5A	35	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	8.954e-05	0	Brugada syndrome	unknown	0.03814262	0.038474295	0	0	VariationID_67628
SCN5A:35:G:S	SCN5A	35	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	8.954e-05	1	Brugada syndrome	unknown	0.03814262	0.038474295	0	0	11960580,23805106,23414114
SCN5A:41:E:D	SCN5A	41	E	D	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_518512
SCN5A:43:R:Q	SCN5A	43	R	Q	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	4.495e-05	2	Brugada syndrome;Congenital long QT syndrome	maf_pathogenic	0.222614841	0.01130742	0	0	VariationID_67654
SCN5A:43:R:Q	SCN5A	43	R	Q	ENST00000333535;NM_198056.2	Arrhythmia%2C lidocaine-induced	NA	unknown	hgmd	unknown	DM	4.495e-05	2	Arrhythmia%2C lidocaine-induced	maf_pathogenic	0.222614841	0.01130742	0	0	18848812,19716085,18984535
SCN5A:43:R:Q	SCN5A	43	R	Q	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.495e-05	unknown	DEE	maf_pathogenic	0.222614841	0.01130742	0	0	Heyne_etal_bioRxiv2019
SCN5A:48:E:K	SCN5A	48	E	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	4.917e-05	2	Congenital long QT syndrome;not specified	maf_pathogenic	0.106699752	0.007940447	0	0	VariationID_67663
SCN5A:48:E:K	SCN5A	48	E	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.917e-05	2	Long QT syndrome	maf_pathogenic	0.106699752	0.007940447	0	0	19716085,28412158
SCN5A:48:E:K	SCN5A	48	E	K	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.917e-05	unknown	DEE	maf_pathogenic	0.106699752	0.007940447	0	0	Heyne_etal_bioRxiv2019
SCN5A:51:A:V	SCN5A	51	A	V	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.178e-06	2	not specified	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_179791
SCN5A:51:A:V	SCN5A	51	A	V	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.178e-06	unknown	DEE	maf_pathogenic	0.036144578	0.038554217	0	0	Heyne_etal_bioRxiv2019
SCN5A:52:P:S	SCN5A	52	P	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	8.176e-06	1	Congenital long QT syndrome	maf_pathogenic	0.223300971	0.031067961	0	0	VariationID_67666
SCN5A:52:P:S	SCN5A	52	P	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	8.176e-06	2	Long QT syndrome	maf_pathogenic	0.223300971	0.031067961	0	0	19716085
SCN5A:53:R:Q	SCN5A	53	R	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	1.228e-05	1	Congenital long QT syndrome	maf_pathogenic	0.223300971	0.031067961	0	0	VariationID_67670
SCN5A:53:R:Q	SCN5A	53	R	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.228e-05	2	Long QT syndrome	maf_pathogenic	0.223300971	0.031067961	0	0	19716085,28412158,26412604
SCN5A:70:N:K	SCN5A	70	N	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	4.498e-05	1	Brugada syndrome	maf_pathogenic	0.011406844	0.088212928	0	0	VariationID_67714
SCN5A:70:N:K	SCN5A	70	N	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.498e-05	2	Brugada syndrome	maf_pathogenic	0.011406844	0.088212928	0	0	20129283,24573164
SCN5A:71:P:L	SCN5A	71	P	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_406432
SCN5A:84:D:N	SCN5A	84	D	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67736
SCN5A:84:D:N	SCN5A	84	D	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	20129283
SCN5A:84:D:V	SCN5A	84	D	V	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519250
SCN5A:87:Y:C	SCN5A	87	Y	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	23503384
SCN5A:88:S:G	SCN5A	88	S	G	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	9.088e-06	2	not specified	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_201429
SCN5A:90:Q:K	SCN5A	90	Q	K	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201412
SCN5A:93:F:S	SCN5A	93	F	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67758
SCN5A:93:F:S	SCN5A	93	F	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	20129283,24136861
SCN5A:94:I:S	SCN5A	94	I	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67760
SCN5A:94:I:S	SCN5A	94	I	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:94:I:V	SCN5A	94	I	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.218e-05	3	Brugada syndrome;Cardiovascular phenotype;not specified	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_463314
SCN5A:94:I:V	SCN5A	94	I	V	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.218e-05	unknown	DEE	maf_pathogenic	0.036144578	0.038554217	0	0	Heyne_etal_bioRxiv2019
SCN5A:95:V:I	SCN5A	95	V	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	3.249e-05	0	Brugada syndrome;not provided;not specified	maf_pathogenic	0.014778325	0.114285714	0	0	VariationID_67761
SCN5A:95:V:I	SCN5A	95	V	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	3.249e-05	2	Brugada syndrome	maf_pathogenic	0.014778325	0.114285714	0	0	17081365,23805106,20877689
SCN5A:102:I:V	SCN5A	102	I	V	ENST00000333535;NM_198056.2	Long QT syndrome and generalized epilepsy	NA	unknown	hgmd	unknown	DM	0	2	Long QT syndrome and generalized epilepsy	maf_pathogenic	NA	NA	0	0	25119684
SCN5A:104:R:G	SCN5A	104	R	G	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67777
SCN5A:104:R:G	SCN5A	104	R	G	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:104:R:Q	SCN5A	104	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Brugada syndrome;not provided	maf_pathogenic	0.020979021	0.721678322	1	1	VariationID_67780
SCN5A:104:R:Q	SCN5A	104	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.020979021	0.721678322	1	1	11960580,23805106,24136861
SCN5A:104:R:W	SCN5A	104	R	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	4.061e-06	3	Brugada syndrome;Cardiovascular phenotype;not provided	maf_pathogenic	0.036144578	0.520481928	1	1	VariationID_67778
SCN5A:104:R:W	SCN5A	104	R	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.036144578	0.520481928	0	0	20129283,22739120,24136861
SCN5A:109:N:K	SCN5A	109	N	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	4.061e-06	1	Brugada syndrome	maf_pathogenic	0.029126214	0.613592233	0	0	VariationID_67787
SCN5A:109:N:K	SCN5A	109	N	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.029126214	0.613592233	0	0	19843921
SCN5A:110:A:T	SCN5A	110	A	T	ENST00000333535;NM_198056.2	Primary familial hypertrophic cardiomyopathy;not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.624e-05	2	Primary familial hypertrophic cardiomyopathy;not specified	maf_pathogenic	0.18699187	0.02601626	0	0	VariationID_180510
SCN5A:110:A:T	SCN5A	110	A	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.624e-05	2	Long QT syndrome	maf_pathogenic	0.18699187	0.02601626	0	0	23174487,26159999,23631430
SCN5A:113:V:I	SCN5A	113	V	I	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67794
SCN5A:113:V:I	SCN5A	113	V	I	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	20541041
SCN5A:115:S:G	SCN5A	115	S	G	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67798
SCN5A:115:S:G	SCN5A	115	S	G	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:119:P:S	SCN5A	119	P	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	8.122e-06	2	Brugada syndrome	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_463327
SCN5A:120:I:T	SCN5A	120	I	T	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201430
SCN5A:121:R:Q	SCN5A	121	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Pathogenic	8.122e-06	2	Brugada syndrome	maf_pathogenic	0.029126214	0.419417476	0	0	VariationID_67808
SCN5A:121:R:Q	SCN5A	121	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	8.122e-06	2	Brugada syndrome	maf_pathogenic	0.029126214	0.419417476	0	0	20129283,24136861
SCN5A:121:R:W	SCN5A	121	R	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;not provided	maf_pathogenic	0.036144578	0.761445783	1	1	VariationID_67807
SCN5A:121:R:W	SCN5A	121	R	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.036144578	0.761445783	1	1	19606473,22739120,20395683,28449774,24136861
SCN5A:124:A:D	SCN5A	124	A	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	22529811
SCN5A:125:V:L	SCN5A	125	V	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0.0002193	1	Congenital long QT syndrome	unknown	0.020480855	0.00284951	0	0	VariationID_67821
SCN5A:125:V:L	SCN5A	125	V	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0002193	2	Long QT syndrome	unknown	0.020480855	0.00284951	0	0	15840476,23805106
SCN5A:125:V:L	SCN5A	125	V	L	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002193	unknown	DEE	unknown	0.020480855	0.00284951	0	0	Heyne_etal_bioRxiv2019
SCN5A:126:K:E	SCN5A	126	K	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67826
SCN5A:126:K:E	SCN5A	126	K	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	12051963,20981092,23805106
SCN5A:136:L:P	SCN5A	136	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67861
SCN5A:136:L:P	SCN5A	136	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	17697823
SCN5A:137:I:M	SCN5A	137	I	M	ENST00000333535;NM_198056.2	Arrhythmogenic right ventricular dysplasia	NA	unknown	hgmd	unknown	DM	0	2	Arrhythmogenic right ventricular dysplasia	maf_pathogenic	0.130434783	0.139130435	0	0	24317018
SCN5A:138:M:I	SCN5A	138	M	I	ENST00000333535;NM_198056.2	Atrial fibrillation;Atrial fibrillation	NA	unknown	clinvar	unknown	Uncertain significance	4.146e-06	1	Atrial fibrillation;Atrial fibrillation	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_67865
SCN5A:138:M:I	SCN5A	138	M	I	ENST00000333535;NM_198056.2	Atrial fibrillation	NA	unknown	hgmd	unknown	DM	4.146e-06	2	Atrial fibrillation	maf_pathogenic	0.069767442	0.074418605	0	0	18378609,25637381
SCN5A:138:M:T	SCN5A	138	M	T	ENST00000333535;NM_198056.2	Primary dilated cardiomyopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	1	Primary dilated cardiomyopathy	maf_pathogenic	NA	NA	0	0	VariationID_180511
SCN5A:141:I:F	SCN5A	141	I	F	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201431
SCN5A:141:I:N	SCN5A	141	I	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.123e-06	2	Brugada syndrome	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_463335
SCN5A:141:I:V	SCN5A	141	I	V	ENST00000333535;NM_198056.2	Ventricular arrhythmia%2C exercise-induced	NA	unknown	hgmd	unknown	DM	0	2	Ventricular arrhythmia%2C exercise-induced	maf_pathogenic	0.029126214	0.031067961	0	0	25210054,26965448
SCN5A:146:V:M	SCN5A	146	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0.0001191	1	Brugada syndrome	unknown	0.004815409	0.037239165	0	0	VariationID_67886
SCN5A:146:V:M	SCN5A	146	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0.0001191	2	Brugada syndrome	unknown	0.004815409	0.037239165	0	0	20129283
SCN5A:146:V:M	SCN5A	146	V	M	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001191	unknown	DEE	unknown	0.004815409	0.037239165	0	0	Heyne_etal_bioRxiv2019
SCN5A:149:A:V	SCN5A	149	A	V	ENST00000333535;NM_198056.2	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	0	2	Sudden unexplained death	maf_pathogenic	0.130434783	0.139130435	0	0	24631775
SCN5A:161:E:K	SCN5A	161	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	8.393e-06	2	Brugada syndrome	maf_pathogenic	0.081272085	0.718021201	1	1	VariationID_67927
SCN5A:161:E:K	SCN5A	161	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	8.393e-06	2	Brugada syndrome	maf_pathogenic	0.081272085	0.718021201	1	1	12106943,20448214,20384651,20539757,23414114,15910881,15910881
SCN5A:161:E:Q	SCN5A	161	E	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67928
SCN5A:161:E:Q	SCN5A	161	E	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:166:A:T	SCN5A	166	A	T	ENST00000333535;NM_198056.2	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	0.0002195	1	Sudden unexplained death	unknown	0.002079002	0.002217602	0	0	27650965
SCN5A:175:K:N	SCN5A	175	K	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67971
SCN5A:175:K:N	SCN5A	175	K	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:176:I:M	SCN5A	176	I	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_67975
SCN5A:176:I:M	SCN5A	176	I	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	NA	NA	1	1	19996378
SCN5A:178:A:G	SCN5A	178	A	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67986
SCN5A:178:A:G	SCN5A	178	A	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:179:R:Q	SCN5A	179	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.848e-05	2	Brugada syndrome;Brugada syndrome 1	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_406417
SCN5A:179:R:Q	SCN5A	179	R	Q	ENST00000333535;NM_198056.2	Sudden unexpected death	NA	unknown	hgmd	unknown	DM	2.848e-05	1	Sudden unexpected death	maf_pathogenic	0.130434783	0.139130435	0	0	28704380
SCN5A:180:G:V	SCN5A	180	G	V	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_201433
SCN5A:182:C:R	SCN5A	182	C	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67991
SCN5A:182:C:R	SCN5A	182	C	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:184:H:Q	SCN5A	184	H	Q	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_201434
SCN5A:185:A:T	SCN5A	185	A	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0.0004135	1	Congenital long QT syndrome	unknown	0.024202843	0.001229351	0	0	VariationID_67996
SCN5A:185:A:T	SCN5A	185	A	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0004135	2	Long QT syndrome	unknown	0.024202843	0.001229351	0	0	15176425,26332594
SCN5A:185:A:T	SCN5A	185	A	T	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0004135	unknown	DEE	unknown	0.024202843	0.001229351	0	0	Heyne_etal_bioRxiv2019
SCN5A:185:A:V	SCN5A	185	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	1.639e-05	1	Brugada syndrome	maf_pathogenic	0.024390244	0.188617886	0	0	VariationID_67998
SCN5A:185:A:V	SCN5A	185	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	1.639e-05	2	Brugada syndrome	maf_pathogenic	0.024390244	0.188617886	0	0	20129283
SCN5A:185:A:V	SCN5A	185	A	V	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.639e-05	unknown	DEE	maf_pathogenic	0.024390244	0.188617886	0	0	Heyne_etal_bioRxiv2019
SCN5A:187:T:A	SCN5A	187	T	A	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Brugada syndrome;Cardiac arrest	maf_pathogenic	NA	NA	0	0	VariationID_222801
SCN5A:187:T:I	SCN5A	187	T	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_68000
SCN5A:187:T:I	SCN5A	187	T	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	16325048,20539757
SCN5A:190:R:G	SCN5A	190	R	G	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0004497	0	Congenital long QT syndrome;not specified	unknown	0.077890325	0.001117709	0	0	VariationID_68004
SCN5A:190:R:G	SCN5A	190	R	G	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0004497	2	Long QT syndrome	unknown	0.077890325	0.001117709	0	0	15176425,22402334
SCN5A:190:R:Q	SCN5A	190	R	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	4.599e-05	2	Congenital long QT syndrome;not specified	maf_pathogenic	0.133126935	0.071826625	0	0	VariationID_68005
SCN5A:190:R:Q	SCN5A	190	R	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.599e-05	2	Long QT syndrome	maf_pathogenic	0.133126935	0.071826625	0	0	17905336,28412158,21908450
SCN5A:190:R:Q	SCN5A	190	R	Q	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.599e-05	unknown	DEE	maf_pathogenic	0.133126935	0.071826625	0	0	Heyne_etal_bioRxiv2019
SCN5A:194:N:D	SCN5A	194	N	D	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519278
SCN5A:204:A:E	SCN5A	204	A	E	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201436
SCN5A:204:A:V	SCN5A	204	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_68028
SCN5A:204:A:V	SCN5A	204	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:212:L:P	SCN5A	212	L	P	ENST00000333535;NM_198056.2	Atrial standstill 1, digenic;Congenital long QT syndrome	NA	unknown	clinvar	unknown	Pathogenic	0	1	Atrial standstill 1, digenic;Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_68030
SCN5A:212:L:P	SCN5A	212	L	P	ENST00000333535;NM_198056.2	Atrial standstill	NA	unknown	hgmd	unknown	DM	0	1	Atrial standstill	maf_pathogenic	0.534883721	0.074418605	0	0	16188595,20539757,19716085
SCN5A:212:L:Q	SCN5A	212	L	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_68029
SCN5A:212:L:Q	SCN5A	212	L	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:213:G:D	SCN5A	213	G	D	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	0	1	Cardiomyopathy%2C dilated	maf_pathogenic	0.130434783	0.139130435	0	0	25163546
SCN5A:216:S:L	SCN5A	216	S	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0006807	0	Brugada syndrome;Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	unknown	0.02159771	0.00603695	0	0	VariationID_36767
SCN5A:216:S:L	SCN5A	216	S	L	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	0.0006807	1	Cardiomyopathy%2C dilated	unknown	0.02159771	0.00603695	0	0	19412328,15851227,23465283,23299917,23158531,26159999,20129283,21705349,22685113,27287068,22378279,23414114,17210841
SCN5A:219:R:C	SCN5A	219	R	C	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.659e-05	2	not specified	maf_pathogenic	0.016393443	0.017486339	0	0	VariationID_432157
SCN5A:219:R:H	SCN5A	219	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	3	Brugada syndrome;not provided	maf_pathogenic	0.069767442	0.074418605	1	1	VariationID_242206
SCN5A:219:R:H	SCN5A	219	R	H	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	0	2	Cardiomyopathy%2C dilated	maf_pathogenic	0.069767442	0.074418605	0	0	22675453,24762805,24762805,26304136
SCN5A:220:T:I	SCN5A	220	T	I	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Dilated cardiomyopathy 1E;Familial dilated cardiomyopathy;Nodal rhythm;Sick sinus syndrome 1, autosomal recessive;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0006833	0	Brugada syndrome;Cardiovascular phenotype;Dilated cardiomyopathy 1E;Familial dilated cardiomyopathy;Nodal rhythm;Sick sinus syndrome 1, autosomal recessive;not provided;not specified	unknown	0.000734754	0.010580456	0	0	VariationID_9396
SCN5A:220:T:I	SCN5A	220	T	I	ENST00000333535;NM_198056.2	Nodal rhythm	NA	unknown	hgmd	unknown	DM	0.0006833	2	Nodal rhythm	unknown	0.000734754	0.010580456	0	0	14523039,25637381,25171853,24613995,24613995,20448214,26636822,24055113,20539757,24784157,22685113,15671429,23414114,24136861
SCN5A:220:T:N	SCN5A	220	T	N	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	0	1	Cardiomyopathy%2C dilated	maf_pathogenic	0.130434783	0.139130435	0	0	25163546
SCN5A:222:R:G	SCN5A	222	R	G	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201440
SCN5A:222:R:Q	SCN5A	222	R	Q	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome;Dilated cardiomyopathy 1E;Primary dilated cardiomyopathy;not provided	NA	unknown	clinvar	unknown	Pathogenic	0	3	Brugada syndrome;Congenital long QT syndrome;Dilated cardiomyopathy 1E;Primary dilated cardiomyopathy;not provided	maf_pathogenic	0.365079365	0.368253968	0	0	VariationID_39444
SCN5A:222:R:Q	SCN5A	222	R	Q	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	0	2	Cardiomyopathy%2C dilated	maf_pathogenic	0.365079365	0.368253968	0	0	19412328,24815523,19716085,22766342,22999724,25624448,22710484,22710484,27532257,24136861
SCN5A:223:V:G	SCN5A	223	V	G	ENST00000333535;NM_198056.2	Sudden unexpected death in epilepsy	NA	unknown	hgmd	unknown	DM	0	2	Sudden unexpected death in epilepsy	maf_pathogenic	NA	NA	0	0	26704558
SCN5A:223:V:L	SCN5A	223	V	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_68031
SCN5A:223:V:L	SCN5A	223	V	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	20129283
SCN5A:225:R:P	SCN5A	225	R	P	ENST00000333535;NM_198056.2	Cardiomyopathy%2C multifocal ventricular ectopy-associated	NA	unknown	hgmd	unknown	DM	0	2	Cardiomyopathy%2C multifocal ventricular ectopy-associated	maf_pathogenic	0.130434783	0.139130435	0	0	24815523,26733869,26022185
SCN5A:225:R:Q	SCN5A	225	R	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	2.094e-05	1	Congenital long QT syndrome	maf_pathogenic	0.160839161	0.022377622	0	0	VariationID_68033
SCN5A:225:R:Q	SCN5A	225	R	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	2.094e-05	2	Long QT syndrome	maf_pathogenic	0.160839161	0.022377622	0	0	16922724,24815523
SCN5A:225:R:W	SCN5A	225	R	W	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiac conduction defect, nonspecific;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome 3;not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	1.672e-05	0	Brugada syndrome;Cardiac conduction defect, nonspecific;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome 3;not provided	maf_pathogenic	0.189686924	0.226887661	0	0	VariationID_68032
SCN5A:225:R:W	SCN5A	225	R	W	ENST00000333535;NM_198056.2	Cardiac conduction disease	NA	unknown	hgmd	unknown	DM	1.672e-05	2	Cardiac conduction disease	maf_pathogenic	0.189686924	0.226887661	0	0	12574143,25637381,24573164,19716085,28449774,25624448,24136861
SCN5A:226:A:D	SCN5A	226	A	D	ENST00000333535;NM_198056.2	Ventricular fibrillation%2C idiopathic	NA	unknown	hgmd	unknown	DM	0	2	Ventricular fibrillation%2C idiopathic	maf_pathogenic	0.130434783	0.139130435	0	0	22028457
SCN5A:226:A:V	SCN5A	226	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	9.238e-05	0	Brugada syndrome;not specified	unknown	0.004149378	0.115076072	0	0	VariationID_68034
SCN5A:226:A:V	SCN5A	226	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	9.238e-05	2	Brugada syndrome	unknown	0.004149378	0.115076072	0	0	11901046,25829473,24136861
SCN5A:227:L:P	SCN5A	227	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	1.267e-05	0	Brugada syndrome;not provided;not specified	maf_pathogenic	0.024390244	0.188617886	0	0	VariationID_201441
SCN5A:230:I:T	SCN5A	230	I	T	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiac conduction defect, nonspecific;Long QT syndrome 1	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Brugada syndrome;Cardiac conduction defect, nonspecific;Long QT syndrome 1	maf_pathogenic	0.010600707	0.01130742	0	0	VariationID_68036
SCN5A:230:I:T	SCN5A	230	I	T	ENST00000333535;NM_198056.2	Cardiac conduction disease	NA	unknown	hgmd	unknown	DM	0	2	Cardiac conduction disease	maf_pathogenic	0.010600707	0.01130742	0	0	20564468
SCN5A:230:I:V	SCN5A	230	I	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	4.281e-06	1	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	VariationID_68035
SCN5A:230:I:V	SCN5A	230	I	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.281e-06	2	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	11901046
SCN5A:232:V:I	SCN5A	232	V	I	ENST00000333535;NM_198056.2	Brugada syndrome;Brugada syndrome 1;Brugada syndrome, lidocaine-induced;Cardiovascular phenotype;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001088	0	Brugada syndrome;Brugada syndrome 1;Brugada syndrome, lidocaine-induced;Cardiovascular phenotype;not specified	unknown	0.003558719	0.051245552	0	0	VariationID_68037
SCN5A:232:V:I	SCN5A	232	V	I	ENST00000333535;NM_198056.2	Brugada syndrome%2C lidocaine-induced	NA	unknown	hgmd	unknown	DM	0.0001088	1	Brugada syndrome%2C lidocaine-induced	unknown	0.003558719	0.051245552	0	0	18599870,25637381,24055113,23414114,24136861
SCN5A:239:I:V	SCN5A	239	I	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.86013986	0.022377622	0	0	VariationID_68038
SCN5A:239:I:V	SCN5A	239	I	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.86013986	0.022377622	1	1	15176425
SCN5A:240:V:M	SCN5A	240	V	M	ENST00000333535;NM_198056.2	Arrhythmia;Brugada syndrome;Congenital long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.138e-06	3	Arrhythmia;Brugada syndrome;Congenital long QT syndrome;not specified	maf_pathogenic	0.21182266	0.311330049	0	0	VariationID_68039
SCN5A:240:V:M	SCN5A	240	V	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	8.138e-06	2	Long QT syndrome	maf_pathogenic	0.21182266	0.311330049	0	0	19716085,24349418
SCN5A:242:A:T	SCN5A	242	A	T	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_450940
SCN5A:242:A:V	SCN5A	242	A	V	ENST00000333535;NM_198056.2	Primary familial hypertrophic cardiomyopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Primary familial hypertrophic cardiomyopathy	maf_pathogenic	NA	NA	0	0	VariationID_222802
SCN5A:245:Q:K	SCN5A	245	Q	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	8.129e-06	1	Congenital long QT syndrome	maf_pathogenic	0.512195122	0.02601626	0	0	VariationID_68040
SCN5A:245:Q:K	SCN5A	245	Q	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	8.129e-06	2	Long QT syndrome	maf_pathogenic	0.512195122	0.02601626	0	0	15840476
SCN5A:247:V:L	SCN5A	247	V	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Likely pathogenic	6.907e-05	2	Congenital long QT syndrome;not provided	maf_pathogenic	0.051918736	0.007223476	0	0	VariationID_68041
SCN5A:247:V:L	SCN5A	247	V	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	6.907e-05	2	Long QT syndrome	maf_pathogenic	0.051918736	0.007223476	0	0	19716085
SCN5A:262:S:R	SCN5A	262	S	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Brugada syndrome	maf_pathogenic	NA	NA	1	1	VariationID_222803
SCN5A:263:V:I	SCN5A	263	V	I	ENST00000333535;NM_198056.2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.122e-06	3	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome;not specified	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_201444
SCN5A:267:I:L	SCN5A	267	I	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	1	Long QT syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	22677073
SCN5A:270:Q:K	SCN5A	270	Q	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.365079365	0.368253968	0	0	VariationID_68042
SCN5A:270:Q:K	SCN5A	270	Q	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.365079365	0.368253968	0	0	20129283,21895525,22090166
SCN5A:273:M:K	SCN5A	273	M	K	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519241
SCN5A:273:M:T	SCN5A	273	M	T	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_191504
SCN5A:274:G:S	SCN5A	274	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	3	Brugada syndrome;not specified	maf_pathogenic	NA	NA	0	0	VariationID_201445
SCN5A:275:N:K	SCN5A	275	N	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_68044
SCN5A:275:N:K	SCN5A	275	N	K	ENST00000333535;NM_198056.2	Long QT syndrome & atrial fibrillation	NA	unknown	hgmd	unknown	DM	0	2	Long QT syndrome & atrial fibrillation	maf_pathogenic	0.534883721	0.074418605	0	0	18452873
SCN5A:276:L:I	SCN5A	276	L	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_463359
SCN5A:276:L:P	SCN5A	276	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	23973953
SCN5A:276:L:Q	SCN5A	276	L	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_68045
SCN5A:276:L:Q	SCN5A	276	L	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	17697823
SCN5A:278:H:D	SCN5A	278	H	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_68046
SCN5A:278:H:D	SCN5A	278	H	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:280:C:Y	SCN5A	280	C	Y	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	23321620
SCN5A:281:V:M	SCN5A	281	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	8.122e-06	2	Brugada syndrome	maf_pathogenic	0.036144578	0.279518072	0	0	24775617,28416588
SCN5A:282:R:C	SCN5A	282	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	0	3	Brugada syndrome;Brugada syndrome 1;not provided	maf_pathogenic	0.029126214	0.419417476	1	1	VariationID_68047
SCN5A:282:R:C	SCN5A	282	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.029126214	0.419417476	0	0	20129283
SCN5A:282:R:H	SCN5A	282	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Pathogenic	1.625e-05	1	Brugada syndrome;Brugada syndrome 1	maf_pathogenic	0.016393443	0.454644809	0	0	VariationID_68048
SCN5A:282:R:H	SCN5A	282	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	1.625e-05	2	Brugada syndrome	maf_pathogenic	0.016393443	0.454644809	0	0	11901046,15828879,15828879,27153395,21840964,28341781
SCN5A:286:A:S	SCN5A	286	A	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002518	0	Brugada syndrome;Cardiovascular phenotype;not provided;not specified	unknown	0.001761597	0.001879037	0	0	VariationID_68049
SCN5A:286:A:V	SCN5A	286	A	V	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Likely benign	8.124e-06	2	not specified	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_201414
SCN5A:289:G:S	SCN5A	289	G	S	ENST00000333535;NM_198056.2	Congenital long QT syndrome;Long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	1.625e-05	1	Congenital long QT syndrome;Long QT syndrome	maf_pathogenic	0.160839161	0.022377622	0	0	VariationID_68050
SCN5A:289:G:S	SCN5A	289	G	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.625e-05	2	Long QT syndrome	maf_pathogenic	0.160839161	0.022377622	0	0	19716085,25637381,28469501
SCN5A:291:N:H	SCN5A	291	N	H	ENST00000333535;NM_198056.2	Brugada syndrome;Torsades de pointes;not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.128e-06	3	Brugada syndrome;Torsades de pointes;not specified	maf_pathogenic	0.223300971	0.031067961	0	0	VariationID_68051
SCN5A:291:N:S	SCN5A	291	N	S	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	not provided	4.064e-06	1	not provided	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_68052
SCN5A:292:G:S	SCN5A	292	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	2.845e-05	1	Brugada syndrome	maf_pathogenic	0.008746356	0.125947522	0	0	VariationID_68053
SCN5A:292:G:S	SCN5A	292	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	2.845e-05	2	Brugada syndrome	maf_pathogenic	0.008746356	0.125947522	0	0	15277732
SCN5A:294:V:M	SCN5A	294	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.033e-05	2	Brugada syndrome;not specified	maf_pathogenic	0.020979021	0.162237762	0	0	VariationID_68054
SCN5A:294:V:M	SCN5A	294	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	2.033e-05	2	Brugada syndrome	maf_pathogenic	0.020979021	0.162237762	0	0	11901046,27711072
SCN5A:295:E:K	SCN5A	295	E	K	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.066e-06	2	not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_451392
SCN5A:297:D:N	SCN5A	297	D	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	3	Brugada syndrome;not specified	maf_pathogenic	NA	NA	0	0	VariationID_201446
SCN5A:298:G:S	SCN5A	298	G	S	ENST00000333535;NM_198056.2	Atrioventricular block;Hemiplegia;Migraine;Primary dilated cardiomyopathy;Progressive familial heart block type 1A;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	2.441e-05	0	Atrioventricular block;Hemiplegia;Migraine;Primary dilated cardiomyopathy;Progressive familial heart block type 1A;not specified	maf_pathogenic	0.020979021	0.022377622	0	0	VariationID_9387
SCN5A:298:G:S	SCN5A	298	G	S	ENST00000333535;NM_198056.2	Atrioventricular conduction block	NA	unknown	hgmd	unknown	DM	2.441e-05	2	Atrioventricular conduction block	maf_pathogenic	0.020979021	0.022377622	0	0	11804990,19056759
SCN5A:298:G:S	SCN5A	298	G	S	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.441e-05	unknown	DEE	maf_pathogenic	0.020979021	0.022377622	0	0	Heyne_etal_bioRxiv2019
SCN5A:299:L:M	SCN5A	299	L	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Likely benign	0.0001383	3	Brugada syndrome;Cardiovascular phenotype;not provided;not specified	unknown	0.002493766	0.002660017	0	0	VariationID_68055
SCN5A:299:L:M	SCN5A	299	L	M	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001383	unknown	DEE	unknown	0.002493766	0.002660017	0	0	Heyne_etal_bioRxiv2019
SCN5A:300:V:I	SCN5A	300	V	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	4.07e-06	1	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	VariationID_68056
SCN5A:300:V:I	SCN5A	300	V	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.07e-06	2	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	20129283,27153395
SCN5A:301:W:C	SCN5A	301	W	C	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_393066
SCN5A:314:Y:H	SCN5A	314	Y	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	3	Brugada syndrome;not specified	maf_pathogenic	NA	NA	0	0	VariationID_201574
SCN5A:315:L:P	SCN5A	315	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	3	Brugada syndrome;Cardiovascular phenotype;not specified	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_68058
SCN5A:315:L:P	SCN5A	315	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:317:K:N	SCN5A	317	K	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_68059
SCN5A:317:K:N	SCN5A	317	K	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	14625171
SCN5A:319:G:S	SCN5A	319	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	4.873e-05	1	Brugada syndrome	maf_pathogenic	0.067055394	0.067638484	0	0	VariationID_68060
SCN5A:319:G:S	SCN5A	319	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.873e-05	2	Brugada syndrome	maf_pathogenic	0.067055394	0.067638484	0	0	11901046
SCN5A:320:T:N	SCN5A	320	T	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.218e-05	2	Brugada syndrome	maf_pathogenic	0.029126214	0.225242718	0	0	VariationID_68061
SCN5A:320:T:N	SCN5A	320	T	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	1.218e-05	2	Brugada syndrome	maf_pathogenic	0.029126214	0.225242718	0	0	20129283
SCN5A:321:S:Y	SCN5A	321	S	Y	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	25401102
SCN5A:325:L:R	SCN5A	325	L	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_68062
SCN5A:325:L:R	SCN5A	325	L	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	15890323
SCN5A:335:C:S	SCN5A	335	C	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	25650408
SCN5A:336:P:L	SCN5A	336	P	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.036144578	0.279518072	0	0	VariationID_67624
SCN5A:336:P:L	SCN5A	336	P	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.036144578	0.279518072	0	0	17075016
SCN5A:340:R:Q	SCN5A	340	R	Q	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	7.741e-05	2	Brugada syndrome;Congenital long QT syndrome	unknown	0.047619048	0.006625259	0	0	VariationID_67626
SCN5A:340:R:Q	SCN5A	340	R	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	7.741e-05	2	Long QT syndrome	unknown	0.047619048	0.006625259	0	0	15176425,27650965,22685113,22685113
SCN5A:340:R:W	SCN5A	340	R	W	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	4.074e-06	1	Congenital long QT syndrome	maf_pathogenic	0.704433498	0.015763547	0	0	VariationID_67625
SCN5A:340:R:W	SCN5A	340	R	W	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	4.074e-06	2	Long QT syndrome	maf_pathogenic	0.704433498	0.015763547	1	1	19716085
SCN5A:346:E:G	SCN5A	346	E	G	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.067e-06	2	not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_373493
SCN5A:346:E:K	SCN5A	346	E	K	ENST00000333535;NM_198056.2	Primary dilated cardiomyopathy	NA	unknown	clinvar	unknown	Uncertain significance	5.694e-05	2	Primary dilated cardiomyopathy	maf_pathogenic	0.009287926	0.009907121	0	0	VariationID_222804
SCN5A:346:E:K	SCN5A	346	E	K	ENST00000333535;NM_198056.2	Atrial fibrillation	NA	unknown	hgmd	unknown	DM	5.694e-05	1	Atrial fibrillation	maf_pathogenic	0.009287926	0.009907121	0	0	28837624
SCN5A:349:D:N	SCN5A	349	D	N	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.22e-05	2	not specified	maf_pathogenic	0.020979021	0.162237762	0	0	VariationID_229230
SCN5A:349:D:N	SCN5A	349	D	N	ENST00000333535;NM_198056.2	Sick sinus syndrome%2C autosomal recessive	NA	unknown	hgmd	unknown	DM	1.22e-05	2	Sick sinus syndrome%2C autosomal recessive	maf_pathogenic	0.020979021	0.162237762	0	0	23200271
SCN5A:350:H:Q	SCN5A	350	H	Q	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.065e-06	2	not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_229231
SCN5A:351:G:D	SCN5A	351	G	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67629
SCN5A:351:G:D	SCN5A	351	G	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:351:G:S	SCN5A	351	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.219e-05	2	Brugada syndrome	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_406421
SCN5A:351:G:V	SCN5A	351	G	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.036144578	0.761445783	0	0	VariationID_67630
SCN5A:351:G:V	SCN5A	351	G	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.036144578	0.761445783	1	1	12051963
SCN5A:352:Y:C	SCN5A	352	Y	C	ENST00000333535;NM_198056.2	Early repolarization syndrome	NA	unknown	hgmd	unknown	DM	0	2	Early repolarization syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	26820605,26820605
SCN5A:353:T:I	SCN5A	353	T	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.024390244	0.83902439	0	0	VariationID_67631
SCN5A:353:T:I	SCN5A	353	T	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.024390244	0.83902439	1	1	17198989,25261036
SCN5A:355:F:C	SCN5A	355	F	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	28600387
SCN5A:356:D:N	SCN5A	356	D	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	4.064e-06	3	Brugada syndrome;Brugada syndrome (shorter-than-normal QT interval);not provided	maf_pathogenic	0.012345679	0.753909465	1	1	VariationID_67632
SCN5A:356:D:N	SCN5A	356	D	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	4.064e-06	2	Brugada syndrome	maf_pathogenic	0.012345679	0.753909465	1	1	16325048,22090166,24136861
SCN5A:358:F:S	SCN5A	358	F	S	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not specified	maf_pathogenic	NA	NA	0	0	VariationID_235057
SCN5A:359:A:D	SCN5A	359	A	D	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiac arrhythmia;Long QT syndrome;Primary dilated cardiomyopathy;SUDDEN INFANT DEATH SYNDROME;Sick sinus syndrome	NA	unknown	clinvar	unknown	not provided	0	1	Brugada syndrome;Cardiac arrhythmia;Long QT syndrome;Primary dilated cardiomyopathy;SUDDEN INFANT DEATH SYNDROME;Sick sinus syndrome	maf_pathogenic	NA	NA	0	0	VariationID_440929
SCN5A:367:R:C	SCN5A	367	R	C	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome;not provided	NA	unknown	clinvar	unknown	Pathogenic/Likely pathogenic	8.132e-06	3	Brugada syndrome;Congenital long QT syndrome;not provided	maf_pathogenic	0.234972678	0.345355191	0	0	VariationID_67633
SCN5A:367:R:C	SCN5A	367	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	8.132e-06	2	Brugada syndrome	maf_pathogenic	0.234972678	0.345355191	0	0	12106943,19716085,28600387,24136861
SCN5A:367:R:G	SCN5A	367	R	G	ENST00000333535;NM_198056.2	Cardiac conduction disease	NA	unknown	hgmd	unknown	DM	0	2	Cardiac conduction disease	maf_pathogenic	0.130434783	0.139130435	0	0	28534967
SCN5A:367:R:H	SCN5A	367	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Brugada syndrome;Brugada syndrome 1	maf_pathogenic	0.008746356	0.767346939	1	1	VariationID_9390
SCN5A:367:R:H	SCN5A	367	R	H	ENST00000333535;NM_198056.2	Sudden unexplained nocturnal death syndrome	NA	unknown	hgmd	unknown	DM	0	2	Sudden unexplained nocturnal death syndrome	maf_pathogenic	0.008746356	0.767346939	0	0	11823453,22899775,14687250,24136861,22028457
SCN5A:367:R:L	SCN5A	367	R	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67634
SCN5A:367:R:L	SCN5A	367	R	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:369:M:K	SCN5A	369	M	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.036144578	0.761445783	0	0	VariationID_67635
SCN5A:369:M:K	SCN5A	369	M	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.036144578	0.761445783	1	1	12106943,24136861
SCN5A:370:T:M	SCN5A	370	T	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.847908745	0.0121673	0	0	VariationID_67636
SCN5A:370:T:M	SCN5A	370	T	M	ENST00000333535;NM_198056.2	Sudden adult death syndrome	NA	unknown	hgmd	unknown	DM	0	2	Sudden adult death syndrome	maf_pathogenic	0.847908745	0.0121673	0	0	16712702,19716085
SCN5A:371:Q:E	SCN5A	371	Q	E	ENST00000333535;NM_198056.2	Long QT syndrome 3 & dilated cardiomyopathy	NA	unknown	hgmd	unknown	DM	0	1	Long QT syndrome 3 & dilated cardiomyopathy	maf_pathogenic	0.417475728	0.031067961	0	0	28011106
SCN5A:374:W:G	SCN5A	374	W	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67637
SCN5A:374:W:G	SCN5A	374	W	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:376:R:C	SCN5A	376	R	C	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_67638
SCN5A:376:R:C	SCN5A	376	R	C	ENST00000333535;NM_198056.2	Sick sinus syndrome	NA	unknown	hgmd	unknown	DM	0	2	Sick sinus syndrome	maf_pathogenic	0.069767442	0.074418605	0	0	24295898
SCN5A:376:R:H	SCN5A	376	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	8.17e-06	3	Brugada syndrome;Cardiovascular phenotype;not provided	maf_pathogenic	0.009287926	0.443343653	1	1	VariationID_67639
SCN5A:376:R:H	SCN5A	376	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	8.17e-06	1	Brugada syndrome	maf_pathogenic	0.009287926	0.443343653	0	0	15851228,24295898,23414114
SCN5A:376:R:L	SCN5A	376	R	L	ENST00000333535;NM_198056.2	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	0	1	Sudden unexplained death	maf_pathogenic	0.069767442	0.074418605	0	0	27650965
SCN5A:386:G:E	SCN5A	386	G	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67641
SCN5A:386:G:E	SCN5A	386	G	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	20129283,24136861
SCN5A:386:G:R	SCN5A	386	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67640
SCN5A:386:G:R	SCN5A	386	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	20129283,24136861
SCN5A:396:V:A	SCN5A	396	V	A	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67643
SCN5A:396:V:A	SCN5A	396	V	A	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:396:V:L	SCN5A	396	V	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67642
SCN5A:396:V:L	SCN5A	396	V	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:397:I:F	SCN5A	397	I	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	25904541
SCN5A:397:I:T	SCN5A	397	I	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Likely pathogenic	0	2	Congenital long QT syndrome;not provided	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67644
SCN5A:397:I:T	SCN5A	397	I	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:397:I:V	SCN5A	397	I	V	ENST00000333535;NM_198056.2	Sudden unexpected death in epilepsy	NA	unknown	hgmd	unknown	DM	0	2	Sudden unexpected death in epilepsy	maf_pathogenic	0.047619048	0.368253968	0	0	26704558
SCN5A:400:G:A	SCN5A	400	G	A	ENST00000333535;NM_198056.2	Ventricular fibrillation	NA	unknown	clinvar	unknown	not provided	0	1	Ventricular fibrillation	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_67645
SCN5A:400:G:A	SCN5A	400	G	A	ENST00000333535;NM_198056.2	Ventricular fibrillation during acute myocardial infarction	NA	unknown	hgmd	unknown	DM	0	2	Ventricular fibrillation during acute myocardial infarction	maf_pathogenic	0.130434783	0.139130435	0	0	17675083
SCN5A:400:G:E	SCN5A	400	G	E	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	0.069767442	0.074418605	0	0	Heyne_etal_bioRxiv2019
SCN5A:400:G:R	SCN5A	400	G	R	ENST00000333535;NM_198056.2	Brugada 1 syndrome	NA	unknown	hgmd	unknown	DM	0	2	Brugada 1 syndrome	maf_pathogenic	0.024390244	0.513821138	0	0	28146213
SCN5A:404:L:Q	SCN5A	404	L	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67646
SCN5A:404:L:Q	SCN5A	404	L	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	15840476
SCN5A:406:N:K	SCN5A	406	N	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Congenital long QT syndrome;not provided	maf_pathogenic	0.805825243	0.031067961	1	1	VariationID_67648
SCN5A:406:N:K	SCN5A	406	N	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.805825243	0.031067961	0	0	VariationID_67649
SCN5A:406:N:K	SCN5A	406	N	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.805825243	0.031067961	1	1	15840476,24112685
SCN5A:406:N:K	SCN5A	406	N	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.805825243	0.031067961	1	1	19716085
SCN5A:406:N:S	SCN5A	406	N	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.365079365	0.368253968	0	0	VariationID_67647
SCN5A:406:N:S	SCN5A	406	N	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.365079365	0.368253968	0	0	15877619
SCN5A:409:L:P	SCN5A	409	L	P	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	22064211
SCN5A:409:L:V	SCN5A	409	L	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.682539683	0.050793651	0	0	VariationID_67650
SCN5A:409:L:V	SCN5A	409	L	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.682539683	0.050793651	0	0	19716085
SCN5A:411:V:M	SCN5A	411	V	M	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 3;not provided	NA	unknown	clinvar	unknown	Pathogenic	0	3	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 3;not provided	maf_pathogenic	0.895561358	0.008355091	0	0	VariationID_67651
SCN5A:411:V:M	SCN5A	411	V	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.895561358	0.008355091	1	1	10961955,22721569,21193062,28588847
SCN5A:413:A:E	SCN5A	413	A	E	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67653
SCN5A:413:A:E	SCN5A	413	A	E	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	16414944
SCN5A:413:A:S	SCN5A	413	A	S	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_229232
SCN5A:413:A:T	SCN5A	413	A	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	1.218e-05	1	Congenital long QT syndrome	maf_pathogenic	0.440559441	0.022377622	0	0	VariationID_67652
SCN5A:413:A:T	SCN5A	413	A	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.218e-05	2	Long QT syndrome	maf_pathogenic	0.440559441	0.022377622	0	0	16414944
SCN5A:416:Y:C	SCN5A	416	Y	C	ENST00000333535;NM_198056.2	Arrhythmogenic right ventricular dysplasia/cardiomyopathy;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	4.061e-06	0	Arrhythmogenic right ventricular dysplasia/cardiomyopathy;not specified	maf_pathogenic	0.047619048	0.368253968	0	0	VariationID_201449
SCN5A:416:Y:C	SCN5A	416	Y	C	ENST00000333535;NM_198056.2	Arrhythmogenic right ventricular dysplasia/cardiomyopathy	NA	unknown	hgmd	unknown	DM	4.061e-06	2	Arrhythmogenic right ventricular dysplasia/cardiomyopathy	maf_pathogenic	0.047619048	0.368253968	0	0	28069705,28341781
SCN5A:419:Q:P	SCN5A	419	Q	P	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_378540
SCN5A:421:Q:P	SCN5A	421	Q	P	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_518591
SCN5A:425:A:T	SCN5A	425	A	T	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201450
SCN5A:428:E:K	SCN5A	428	E	K	ENST00000333535;NM_198056.2	Atrial fibrillation;Atrial fibrillation;Atrial fibrillation, familial, 10;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	4.879e-05	0	Atrial fibrillation;Atrial fibrillation;Atrial fibrillation, familial, 10;not specified	maf_pathogenic	0.101654846	0.054846336	0	0	VariationID_30048
SCN5A:428:E:K	SCN5A	428	E	K	ENST00000333535;NM_198056.2	Atrial fibrillation	NA	unknown	hgmd	unknown	DM	4.879e-05	1	Atrial fibrillation	maf_pathogenic	0.101654846	0.054846336	0	0	18378609,25637381,24055113,24784157,28341781
SCN5A:433:R:H	SCN5A	433	R	H	ENST00000333535;NM_198056.2	Brugada syndrome;Long QT syndrome 3	NA	unknown	clinvar	unknown	Uncertain significance	4.075e-06	3	Brugada syndrome;Long QT syndrome 3	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_463296
SCN5A:439:E:K	SCN5A	439	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67655
SCN5A:439:E:K	SCN5A	439	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24573164
SCN5A:445:H:D	SCN5A	445	H	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	4.983e-05	0	Atrial fibrillation;Atrial fibrillation, familial, 10;Brugada syndrome;not specified	maf_pathogenic	0.009287926	0.071826625	0	0	VariationID_30046
SCN5A:445:H:D	SCN5A	445	H	D	ENST00000333535;NM_198056.2	Atrial fibrillation	NA	unknown	hgmd	unknown	DM	4.983e-05	2	Atrial fibrillation	maf_pathogenic	0.009287926	0.071826625	0	0	18378609,28086167,25650408
SCN5A:445:H:Q	SCN5A	445	H	Q	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.355e-06	2	not specified	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_392371
SCN5A:446:E:K	SCN5A	446	E	K	ENST00000333535;NM_198056.2	Cardiovascular phenotype;Primary dilated cardiomyopathy;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0006492	0	Cardiovascular phenotype;Primary dilated cardiomyopathy;not specified	unknown	0.000954502	0.001018136	0	0	VariationID_67656
SCN5A:446:E:K	SCN5A	446	E	K	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	0.0006492	2	Cardiomyopathy%2C dilated	unknown	0.000954502	0.001018136	0	0	21596231,25637381,23299917,27896284,28018021,25102755
SCN5A:446:E:K	SCN5A	446	E	K	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0006492	unknown	DEE	unknown	0.000954502	0.001018136	0	0	Heyne_etal_bioRxiv2019
SCN5A:447:A:G	SCN5A	447	A	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	5.463e-05	3	Brugada syndrome;not provided;not specified	maf_pathogenic	0.006479482	0.006911447	0	0	VariationID_67657
SCN5A:449:T:A	SCN5A	449	T	A	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	8.323e-06	3	Brugada syndrome;not provided;not specified	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_67658
SCN5A:452:G:D	SCN5A	452	G	D	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.117e-06	2	not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_201451
SCN5A:455:T:A	SCN5A	455	T	A	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Likely benign	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201550
SCN5A:456:V:M	SCN5A	456	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.228e-05	2	Brugada syndrome	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_463298
SCN5A:458:R:C	SCN5A	458	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Likely benign	0.000147	2	Brugada syndrome	unknown	0.004149378	0.004426003	0	0	VariationID_463299
SCN5A:458:R:C	SCN5A	458	R	C	ENST00000333535;NM_198056.2	Sudden infant death syndrome	NA	unknown	hgmd	unknown	DM	0.000147	2	Sudden infant death syndrome	unknown	0.004149378	0.004426003	0	0	25757662
SCN5A:458:R:H	SCN5A	458	R	H	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.169e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201452
SCN5A:461:L:V	SCN5A	461	L	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Benign	0.0009244	3	Brugada syndrome;Cardiovascular phenotype;Sudden cardiac death;not provided;not specified	unknown	0.000425955	0.000454352	0	0	VariationID_67659
SCN5A:461:L:V	SCN5A	461	L	V	ENST00000333535;NM_198056.2	Sudden adult death syndrome	NA	unknown	hgmd	unknown	DM	0.0009244	1	Sudden adult death syndrome	unknown	0.000425955	0.000454352	0	0	16712702,15851227,28412158,20129283
SCN5A:462:E:A	SCN5A	462	E	A	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	3	Congenital long QT syndrome;not specified	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67661
SCN5A:462:E:A	SCN5A	462	E	A	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085,28412158
SCN5A:462:E:K	SCN5A	462	E	K	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome;Long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	3.258e-05	2	Brugada syndrome;Congenital long QT syndrome;Long QT syndrome	maf_pathogenic	0.103139013	0.014349776	0	0	VariationID_67660
SCN5A:462:E:K	SCN5A	462	E	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	3.258e-05	2	Long QT syndrome	maf_pathogenic	0.103139013	0.014349776	0	0	15840476,25637381,22378279
SCN5A:466:L:F	SCN5A	466	L	F	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.441e-05	2	not specified	maf_pathogenic	0.018404908	0.142331288	0	0	VariationID_201453
SCN5A:466:L:F	SCN5A	466	L	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	2.441e-05	2	Brugada syndrome	maf_pathogenic	0.018404908	0.142331288	0	0	24721456
SCN5A:467:A:S	SCN5A	467	A	S	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201454
SCN5A:468:P:L	SCN5A	468	P	L	ENST00000333535;NM_198056.2	Sudden cardiac death	NA	unknown	hgmd	unknown	DM	1.221e-05	1	Sudden cardiac death	maf_pathogenic	0.018404908	0.142331288	0	0	25467552
SCN5A:469:V:I	SCN5A	469	V	I	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_518673
SCN5A:470:N:K	SCN5A	470	N	K	ENST00000333535;NM_198056.2	Atrial fibrillation;Atrial fibrillation, familial, 10	NA	unknown	clinvar	unknown	Pathogenic	8.135e-06	1	Atrial fibrillation;Atrial fibrillation, familial, 10	maf_pathogenic	0.024390244	0.02601626	0	0	VariationID_30047
SCN5A:470:N:K	SCN5A	470	N	K	ENST00000333535;NM_198056.2	Atrial fibrillation	NA	unknown	hgmd	unknown	DM	8.135e-06	2	Atrial fibrillation	maf_pathogenic	0.024390244	0.02601626	0	0	18378609
SCN5A:475:R:S	SCN5A	475	R	S	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	not provided	1.219e-05	1	not provided	maf_pathogenic	0.012345679	0.013168724	0	0	VariationID_67662
SCN5A:481:R:W	SCN5A	481	R	W	ENST00000333535;NM_198056.2	Brugada syndrome;Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;Long QT syndrome 3;Long QT syndrome 3;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.0009018	3	Brugada syndrome;Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;Long QT syndrome 3;Long QT syndrome 3;not provided;not specified	unknown	0.002993622	0.003019654	0	0	VariationID_48284
SCN5A:484:S:L	SCN5A	484	S	L	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	0	1	Cardiomyopathy%2C dilated	maf_pathogenic	NA	NA	0	0	28416588
SCN5A:495:P:L	SCN5A	495	P	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_406442
SCN5A:500:E:K	SCN5A	500	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_406445
SCN5A:501:D:G	SCN5A	501	D	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67664
SCN5A:501:D:G	SCN5A	501	D	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:506:M:K	SCN5A	506	M	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.078e-06	2	Long QT syndrome	maf_pathogenic	0.365079365	0.050793651	0	0	23631430
SCN5A:512:T:I	SCN5A	512	T	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	4.429e-06	0	Brugada syndrome;Brugada syndrome 1;Cardiac conduction defect, nonspecific;Progressive familial heart block type 1A;not provided	maf_pathogenic	0.036144578	0.279518072	0	0	VariationID_67665
SCN5A:512:T:I	SCN5A	512	T	I	ENST00000333535;NM_198056.2	Cardiac conduction disease	NA	unknown	hgmd	unknown	DM	4.429e-06	2	Cardiac conduction disease	maf_pathogenic	0.036144578	0.279518072	0	0	12569159,27554632,27554632
SCN5A:513:R:C	SCN5A	513	R	C	ENST00000333535;NM_198056.2	Cardiovascular phenotype;not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.211e-05	3	Cardiovascular phenotype;not specified	maf_pathogenic	0.024390244	0.02601626	0	0	VariationID_201456
SCN5A:513:R:H	SCN5A	513	R	H	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Likely benign	4.39e-06	2	not specified	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_48285
SCN5A:514:G:C	SCN5A	514	G	C	ENST00000333535;NM_198056.2	Cardiac conduction defect, nonprogressive;Cardiac conduction defect, nonspecific	NA	unknown	clinvar	unknown	Pathogenic	0	1	Cardiac conduction defect, nonprogressive;Cardiac conduction defect, nonspecific	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_9386
SCN5A:514:G:C	SCN5A	514	G	C	ENST00000333535;NM_198056.2	Cardiac conduction disease	NA	unknown	hgmd	unknown	DM	0	2	Cardiac conduction disease	maf_pathogenic	0.047619048	0.685714286	0	0	11234013
SCN5A:519:S:F	SCN5A	519	S	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	25401102
SCN5A:523:R:C	SCN5A	523	R	C	ENST00000333535;NM_198056.2	Atrial fibrillation, familial, 10;Brugada syndrome;Brugada syndrome 1;Congenital long QT syndrome;Dilated cardiomyopathy 1E;Long QT syndrome 3;Paroxysmal familial ventricular fibrillation 1;Progressive familial heart block type 1A;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	8.468e-06	0	Atrial fibrillation, familial, 10;Brugada syndrome;Brugada syndrome 1;Congenital long QT syndrome;Dilated cardiomyopathy 1E;Long QT syndrome 3;Paroxysmal familial ventricular fibrillation 1;Progressive familial heart block type 1A;not specified	maf_pathogenic	0.223300971	0.031067961	0	0	VariationID_67667
SCN5A:523:R:C	SCN5A	523	R	C	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	8.468e-06	2	Long QT syndrome	maf_pathogenic	0.223300971	0.031067961	0	0	18752142,18752973
SCN5A:524:S:Y	SCN5A	524	S	Y	ENST00000333535;NM_198056.2	Brugada syndrome;Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;Long QT syndrome;Long QT syndrome 3;Long QT syndrome 3;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.003382	3	Brugada syndrome;Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;Long QT syndrome;Long QT syndrome 3;Long QT syndrome 3;not provided;not specified	unknown	0.000120178	0.00012819	0	0	VariationID_48286
SCN5A:524:S:Y	SCN5A	524	S	Y	ENST00000333535;NM_198056.2	Sudden infant death syndrome	NA	unknown	hgmd	unknown	DM	0.003382	2	Sudden infant death syndrome	unknown	0.000120178	0.00012819	0	0	16453024,26332594,15992732
SCN5A:526:R:C	SCN5A	526	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.586e-05	3	Brugada syndrome;not specified	maf_pathogenic	0.011406844	0.0121673	0	0	VariationID_406450
SCN5A:526:R:H	SCN5A	526	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	6.255e-05	2	Brugada syndrome;not specified	maf_pathogenic	0.00621118	0.255072464	0	0	VariationID_67668
SCN5A:526:R:H	SCN5A	526	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	6.255e-05	1	Brugada syndrome	maf_pathogenic	0.00621118	0.255072464	0	0	20129283,24795344,24573164,28798025,27554632,27554632,23414114
SCN5A:526:R:H	SCN5A	526	R	H	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.255e-05	unknown	DEE	maf_pathogenic	0.00621118	0.255072464	0	0	Heyne_etal_bioRxiv2019
SCN5A:527:G:R	SCN5A	527	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.903e-05	3	Brugada syndrome;not provided;not specified	maf_pathogenic	0.018404908	0.019631902	0	0	VariationID_406447
SCN5A:528:S:I	SCN5A	528	S	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_406425
SCN5A:530:F:V	SCN5A	530	F	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	2.458e-05	1	Congenital long QT syndrome	maf_pathogenic	0.141104294	0.019631902	0	0	VariationID_67669
SCN5A:530:F:V	SCN5A	530	F	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	2.458e-05	2	Long QT syndrome	maf_pathogenic	0.141104294	0.019631902	0	0	19716085
SCN5A:532:F:C	SCN5A	532	F	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	1.634e-05	0	Brugada syndrome;SUDDEN INFANT DEATH SYNDROME;not provided	maf_pathogenic	0.239543726	0.31634981	0	0	VariationID_67671
SCN5A:532:F:C	SCN5A	532	F	C	ENST00000333535;NM_198056.2	Sudden infant death syndrome	NA	unknown	hgmd	unknown	DM	1.634e-05	1	Sudden infant death syndrome	maf_pathogenic	0.239543726	0.31634981	0	0	18596570,15996170,28341781
SCN5A:533:R:H	SCN5A	533	R	H	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	5.719e-05	3	Brugada syndrome;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome;not specified	maf_pathogenic	0.008746356	0.009329446	0	0	VariationID_180512
SCN5A:535:R:Q	SCN5A	535	R	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	2.038e-05	1	Congenital long QT syndrome	maf_pathogenic	0.344262295	0.017486339	0	0	VariationID_67672
SCN5A:535:R:Q	SCN5A	535	R	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	2.038e-05	2	Long QT syndrome	maf_pathogenic	0.344262295	0.017486339	0	0	19716085,24349418
SCN5A:536:D:H	SCN5A	536	D	H	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.365079365	0.050793651	0	0	27471188
SCN5A:543:F:L	SCN5A	543	F	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67673
SCN5A:543:F:L	SCN5A	543	F	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:551:A:T	SCN5A	551	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.036144578	0.520481928	0	0	VariationID_67674
SCN5A:551:A:T	SCN5A	551	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.036144578	0.520481928	0	0	16155735,19706159,24463578
SCN5A:551:A:V	SCN5A	551	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Likely pathogenic	3.657e-05	2	Brugada syndrome	maf_pathogenic	0.012345679	0.013168724	0	0	VariationID_191381
SCN5A:552:G:R	SCN5A	552	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.020979021	0.162237762	0	0	VariationID_67675
SCN5A:552:G:R	SCN5A	552	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.020979021	0.162237762	0	0	20129283,24573164
SCN5A:552:G:W	SCN5A	552	G	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.219e-05	3	Brugada syndrome;not specified	maf_pathogenic	0.024390244	0.02601626	0	0	VariationID_201458
SCN5A:555:E:K	SCN5A	555	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	3.25e-05	1	Brugada syndrome	maf_pathogenic	0.013452915	0.104035874	0	0	VariationID_67676
SCN5A:555:E:K	SCN5A	555	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	3.25e-05	1	Brugada syndrome	maf_pathogenic	0.013452915	0.104035874	0	0	12639704,24573164
SCN5A:557:H:Q	SCN5A	557	H	Q	ENST00000333535;NM_198056.2	Primary dilated cardiomyopathy	NA	unknown	clinvar	unknown	Uncertain significance	4.063e-06	2	Primary dilated cardiomyopathy	maf_pathogenic	NA	NA	0	0	VariationID_222806
SCN5A:558:H:R	SCN5A	558	H	R	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Progressive familial heart block type 1A;Romano-Ward syndrome;Sick sinus syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.2208	3	Brugada syndrome;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Progressive familial heart block type 1A;Romano-Ward syndrome;Sick sinus syndrome;not provided;not specified	unknown	1.81e-05	0.000112405	0	0	VariationID_48289
SCN5A:559:T:I	SCN5A	559	T	I	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	not provided	1.625e-05	1	not provided	maf_pathogenic	0.024390244	0.02601626	0	0	VariationID_67677
SCN5A:567:L:Q	SCN5A	567	L	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	8.13e-06	2	Brugada syndrome;Cardiovascular phenotype	maf_pathogenic	0.014778325	0.606896552	0	0	VariationID_67678
SCN5A:567:L:Q	SCN5A	567	L	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	8.13e-06	2	Brugada syndrome	maf_pathogenic	0.014778325	0.606896552	0	0	10711933,24573164,11123251
SCN5A:568:R:H	SCN5A	568	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.626e-05	2	Brugada syndrome;not provided	maf_pathogenic	0.12568306	0.017486339	0	0	VariationID_67679
SCN5A:568:R:H	SCN5A	568	R	H	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.626e-05	2	Long QT syndrome 3	maf_pathogenic	0.12568306	0.017486339	0	0	27287068
SCN5A:569:R:G	SCN5A	569	R	G	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_201576
SCN5A:569:R:G	SCN5A	569	R	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	25904541
SCN5A:569:R:Q	SCN5A	569	R	Q	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.626e-05	2	not specified	maf_pathogenic	0.024390244	0.02601626	0	0	VariationID_201459
SCN5A:569:R:W	SCN5A	569	R	W	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	8.132e-06	1	Congenital long QT syndrome	maf_pathogenic	0.277108434	0.038554217	0	0	VariationID_67680
SCN5A:569:R:W	SCN5A	569	R	W	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	8.132e-06	2	Long QT syndrome	maf_pathogenic	0.277108434	0.038554217	0	0	19716085
SCN5A:571:S:I	SCN5A	571	S	I	ENST00000333535;NM_198056.2	Congenital long QT syndrome;Long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	2.846e-05	1	Congenital long QT syndrome;Long QT syndrome	maf_pathogenic	0.103139013	0.014349776	0	0	VariationID_67681
SCN5A:571:S:I	SCN5A	571	S	I	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	2.846e-05	2	Long QT syndrome	maf_pathogenic	0.103139013	0.014349776	0	0	19716085
SCN5A:572:A:D	SCN5A	572	A	D	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiac arrest;Cardiovascular phenotype;Congenital long QT syndrome;Dilated Cardiomyopathy, Dominant;Left ventricular noncompaction cardiomyopathy;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Paroxysmal familial ventricular fibrillation 1;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.005087	3	Brugada syndrome;Cardiac arrest;Cardiovascular phenotype;Congenital long QT syndrome;Dilated Cardiomyopathy, Dominant;Left ventricular noncompaction cardiomyopathy;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Paroxysmal familial ventricular fibrillation 1;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome;not provided;not specified	unknown	0.003403496	0.000766613	0	0	VariationID_67683
SCN5A:572:A:D	SCN5A	572	A	D	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.005087	1	Long QT syndrome	unknown	0.003403496	0.000766613	0	0	12820704,27243970,23008441,27153395,27287068,22378279,20403459
SCN5A:572:A:D	SCN5A	572	A	D	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.005087	unknown	DEE	unknown	0.003403496	0.000766613	0	0	Heyne_etal_bioRxiv2019
SCN5A:572:A:G	SCN5A	572	A	G	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	1	Long QT syndrome	maf_pathogenic	NA	NA	0	0	16414944
SCN5A:572:A:S	SCN5A	572	A	S	ENST00000333535;NM_198056.2	Congenital long QT syndrome;Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0002033	3	Congenital long QT syndrome;Long QT syndrome;not specified	unknown	0.015721121	0.002187286	0	0	VariationID_67682
SCN5A:572:A:S	SCN5A	572	A	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0002033	2	Long QT syndrome	unknown	0.015721121	0.002187286	0	0	19716085,25637381,24055113,26332594
SCN5A:572:A:V	SCN5A	572	A	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0.0002033	2	Congenital long QT syndrome;not specified	unknown	0.015721121	0.002187286	0	0	VariationID_67684
SCN5A:572:A:V	SCN5A	572	A	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0002033	2	Long QT syndrome	unknown	0.015721121	0.002187286	0	0	19716085,26332594
SCN5A:573:Q:E	SCN5A	573	Q	E	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	4.066e-06	1	Congenital long QT syndrome	maf_pathogenic	0.277108434	0.038554217	0	0	VariationID_67685
SCN5A:573:Q:E	SCN5A	573	Q	E	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.066e-06	2	Long QT syndrome	maf_pathogenic	0.277108434	0.038554217	0	0	16414944,23008441
SCN5A:579:G:R	SCN5A	579	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	8.958e-05	3	Brugada syndrome;not provided;not specified	unknown	0.043977055	0.006118547	0	0	VariationID_67686
SCN5A:579:G:R	SCN5A	579	G	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	8.958e-05	2	Long QT syndrome	unknown	0.043977055	0.006118547	0	0	16414944,20129283
SCN5A:586:A:T	SCN5A	586	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	1.631e-05	1	Brugada syndrome	maf_pathogenic	0.024390244	0.188617886	0	0	VariationID_67687
SCN5A:586:A:T	SCN5A	586	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	1.631e-05	2	Brugada syndrome	maf_pathogenic	0.024390244	0.188617886	0	0	21321465
SCN5A:590:K:Q	SCN5A	590	K	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.082e-06	2	Brugada syndrome	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_406436
SCN5A:592:N:K	SCN5A	592	N	K	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	not provided	0	1	not provided	maf_pathogenic	0.012345679	0.095473251	0	0	VariationID_67688
SCN5A:592:N:K	SCN5A	592	N	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	3.268e-05	2	Brugada syndrome	maf_pathogenic	0.012345679	0.095473251	0	0	24463578
SCN5A:596:D:G	SCN5A	596	D	G	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	not provided	0	1	not provided	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_67689
SCN5A:598:N:S	SCN5A	598	N	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_463304
SCN5A:601:V:A	SCN5A	601	V	A	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	not provided	0	1	not provided	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_67690
SCN5A:605:G:R	SCN5A	605	G	R	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519522
SCN5A:607:G:D	SCN5A	607	G	D	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.634e-06	2	not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_201460
SCN5A:607:G:V	SCN5A	607	G	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	6.024e-05	3	Brugada syndrome;Cardiovascular phenotype;not specified	maf_pathogenic	0.00990099	0.010561056	0	0	VariationID_201461
SCN5A:607:G:V	SCN5A	607	G	V	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.024e-05	unknown	DEE	maf_pathogenic	0.00990099	0.010561056	0	0	Heyne_etal_bioRxiv2019
SCN5A:614:P:S	SCN5A	614	P	S	ENST00000333535;NM_198056.2	Catecholaminergic polymorphic ventricular tachycardia type 1	NA	unknown	clinvar	unknown	Uncertain significance	0	1	Catecholaminergic polymorphic ventricular tachycardia type 1	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_180513
SCN5A:615:G:E	SCN5A	615	G	E	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Death in early adulthood;Death in infancy;Long QT syndrome 3;Long QT syndrome, drug-associated;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002586	0	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Death in early adulthood;Death in infancy;Long QT syndrome 3;Long QT syndrome, drug-associated;not specified	unknown	0.112959113	0.016077616	0	0	VariationID_67691
SCN5A:615:G:E	SCN5A	615	G	E	ENST00000333535;NM_198056.2	Long QT syndrome%2C drug-associated	NA	unknown	hgmd	unknown	DM	0.0002586	1	Long QT syndrome%2C drug-associated	unknown	0.112959113	0.016077616	0	0	11997281,25637381,28412158,24613995,24613995,24055113,25650408,23631430,27153395,27435932,28798025,22378279,23414114
SCN5A:615:G:E	SCN5A	615	G	E	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002586	unknown	DEE	unknown	0.112959113	0.016077616	0	0	Heyne_etal_bioRxiv2019
SCN5A:618:L:F	SCN5A	618	L	F	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome, drug-associated;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.0004796	3	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome, drug-associated;not provided;not specified	unknown	0.015340706	0.008276846	0	0	VariationID_67692
SCN5A:618:L:F	SCN5A	618	L	F	ENST00000333535;NM_198056.2	Long QT syndrome%2C drug-associated	NA	unknown	hgmd	unknown	DM	0.0004796	1	Long QT syndrome%2C drug-associated	unknown	0.015340706	0.008276846	0	0	11997281,25637381,24055113,20129283,26332594,22378279
SCN5A:618:L:F	SCN5A	618	L	F	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0004796	unknown	DEE	unknown	0.015340706	0.008276846	0	0	Heyne_etal_bioRxiv2019
SCN5A:619:L:F	SCN5A	619	L	F	ENST00000333535;NM_198056.2	Brugada syndrome;Long QT syndrome;not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	3.17e-05	0	Brugada syndrome;Long QT syndrome;not provided	maf_pathogenic	0.176954733	0.095473251	0	0	VariationID_67693
SCN5A:619:L:F	SCN5A	619	L	F	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	3.17e-05	2	Long QT syndrome	maf_pathogenic	0.176954733	0.095473251	0	0	12673799,25637381,22378279,23414114
SCN5A:619:L:F	SCN5A	619	L	F	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.17e-05	unknown	DEE	maf_pathogenic	0.176954733	0.095473251	0	0	Heyne_etal_bioRxiv2019
SCN5A:620:R:C	SCN5A	620	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.646e-05	2	Brugada syndrome	maf_pathogenic	0.282511211	0.104035874	0	0	VariationID_67694
SCN5A:620:R:C	SCN5A	620	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	2.646e-05	2	Brugada syndrome	maf_pathogenic	0.282511211	0.104035874	0	0	20129283,26383716,24573164
SCN5A:624:L:I	SCN5A	624	L	I	ENST00000333535;NM_198056.2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	maf_pathogenic	NA	NA	0	0	VariationID_345126
SCN5A:625:E:Q	SCN5A	625	E	Q	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Uncertain significance	5.65e-06	2	not provided	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_191503
SCN5A:625:E:Q	SCN5A	625	E	Q	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.65e-06	unknown	DEE	maf_pathogenic	0.069767442	0.074418605	0	0	Heyne_etal_bioRxiv2019
SCN5A:627:P:L	SCN5A	627	P	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.724e-05	3	Brugada syndrome;Cardiovascular phenotype;not specified	maf_pathogenic	0.349593496	0.02601626	0	0	VariationID_201577
SCN5A:627:P:L	SCN5A	627	P	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.724e-05	1	Long QT syndrome	maf_pathogenic	0.349593496	0.02601626	0	0	22360817
SCN5A:630:T:M	SCN5A	630	T	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	8.101e-05	3	Brugada syndrome;Cardiovascular phenotype;not specified	unknown	0.009287926	0.009907121	0	0	VariationID_201462
SCN5A:630:T:M	SCN5A	630	T	M	ENST00000333535;NM_198056.2	Irritable bowel syndrome	NA	unknown	hgmd	unknown	DM	8.101e-05	1	Irritable bowel syndrome	unknown	0.009287926	0.009907121	0	0	24613995
SCN5A:632:T:M	SCN5A	632	T	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	4.139e-06	1	Brugada syndrome	maf_pathogenic	0.029126214	0.419417476	0	0	VariationID_67695
SCN5A:632:T:M	SCN5A	632	T	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.139e-06	2	Brugada syndrome	maf_pathogenic	0.029126214	0.419417476	0	0	20129283,24573164
SCN5A:634:S:L	SCN5A	634	S	L	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.883e-05	unknown	DEE	maf_pathogenic	0.018404908	0.019631902	0	0	Heyne_etal_bioRxiv2019
SCN5A:637:P:L	SCN5A	637	P	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67696
SCN5A:637:P:L	SCN5A	637	P	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	15840476
SCN5A:638:G:D	SCN5A	638	G	D	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	not provided	0	1	not provided	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_67697
SCN5A:639:G:R	SCN5A	639	G	R	ENST00000333535;NM_198056.2	Congenital long QT syndrome;Long QT syndrome	NA	unknown	clinvar	unknown	Likely pathogenic	1.231e-05	2	Congenital long QT syndrome;Long QT syndrome	maf_pathogenic	0.349593496	0.02601626	0	0	VariationID_67698
SCN5A:639:G:R	SCN5A	639	G	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	4.103e-06	1	Congenital long QT syndrome	maf_pathogenic	0.349593496	0.02601626	0	0	VariationID_67699
SCN5A:639:G:R	SCN5A	639	G	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.231e-05	2	Long QT syndrome	maf_pathogenic	0.349593496	0.02601626	0	0	19716085
SCN5A:639:G:R	SCN5A	639	G	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.103e-06	2	Long QT syndrome	maf_pathogenic	0.349593496	0.02601626	0	0	16922724
SCN5A:640:P:A	SCN5A	640	P	A	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	4.1e-06	1	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	VariationID_67700
SCN5A:640:P:A	SCN5A	640	P	A	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.1e-06	2	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	20129283
SCN5A:647:A:D	SCN5A	647	A	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome;not provided	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67701
SCN5A:647:A:D	SCN5A	647	A	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24573164,26332594
SCN5A:647:A:S	SCN5A	647	A	S	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.633e-05	2	not specified	maf_pathogenic	0.024390244	0.02601626	0	0	VariationID_201466
SCN5A:647:A:V	SCN5A	647	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.224e-05	2	Brugada syndrome	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_191502
SCN5A:648:P:L	SCN5A	648	P	L	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	4.488e-05	0	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;not provided;not specified	maf_pathogenic	0.11227154	0.060574413	0	0	VariationID_48292
SCN5A:648:P:L	SCN5A	648	P	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.488e-05	2	Long QT syndrome	maf_pathogenic	0.11227154	0.060574413	0	0	15840476,24613995,24613995,28807990,28600387
SCN5A:651:D:H	SCN5A	651	D	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_201578
SCN5A:654:E:K	SCN5A	654	E	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	2.851e-05	1	Congenital long QT syndrome	maf_pathogenic	0.12568306	0.017486339	0	0	VariationID_67702
SCN5A:654:E:K	SCN5A	654	E	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	2.851e-05	2	Long QT syndrome	maf_pathogenic	0.12568306	0.017486339	0	0	19716085,28807990,27077130
SCN5A:655:E:K	SCN5A	655	E	K	ENST00000333535;NM_198056.2	Atrial fibrillation;Atrial fibrillation, familial, 10;not provided	NA	unknown	clinvar	unknown	Pathogenic/Likely pathogenic	4.072e-06	2	Atrial fibrillation;Atrial fibrillation, familial, 10;not provided	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_30049
SCN5A:655:E:K	SCN5A	655	E	K	ENST00000333535;NM_198056.2	Atrial fibrillation	NA	unknown	hgmd	unknown	DM	4.072e-06	2	Atrial fibrillation	maf_pathogenic	0.036144578	0.038554217	0	0	18378609
SCN5A:656:P:L	SCN5A	656	P	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Benign/Likely benign	0.000346	3	Brugada syndrome;not provided;not specified	unknown	0.001126549	0.001201652	0	0	VariationID_48293
SCN5A:656:P:L	SCN5A	656	P	L	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.000346	unknown	DEE	unknown	0.001126549	0.001201652	0	0	Heyne_etal_bioRxiv2019
SCN5A:659:R:W	SCN5A	659	R	W	ENST00000333535;NM_198056.2	Primary familial hypertrophic cardiomyopathy;not provided	NA	unknown	clinvar	unknown	Uncertain significance	3.663e-05	2	Primary familial hypertrophic cardiomyopathy;not provided	maf_pathogenic	0.012345679	0.013168724	0	0	VariationID_180514
SCN5A:661:R:W	SCN5A	661	R	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	1.628e-05	1	Brugada syndrome	maf_pathogenic	0.020979021	0.162237762	0	0	VariationID_67703
SCN5A:661:R:W	SCN5A	661	R	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	1.628e-05	1	Brugada syndrome	maf_pathogenic	0.020979021	0.162237762	0	0	20129283,23414114
SCN5A:662:A:S	SCN5A	662	A	S	ENST00000333535;NM_198056.2	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	1.628e-05	2	Sudden unexplained death	maf_pathogenic	0.018404908	0.019631902	0	0	24631775
SCN5A:664:S:G	SCN5A	664	S	G	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.138e-06	2	not specified	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_449199
SCN5A:665:A:S	SCN5A	665	A	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	5.291e-05	0	Brugada syndrome;not provided;not specified	maf_pathogenic	0.07120743	0.009907121	0	0	VariationID_201467
SCN5A:665:A:S	SCN5A	665	A	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	5.291e-05	2	Long QT syndrome	maf_pathogenic	0.07120743	0.009907121	0	0	23631430
SCN5A:665:A:T	SCN5A	665	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	6.918e-05	3	Brugada syndrome;not specified	maf_pathogenic	0.007832898	0.008355091	0	0	VariationID_201579
SCN5A:670:T:I	SCN5A	670	T	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_406428
SCN5A:671:S:I	SCN5A	671	S	I	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN5A:672:A:T	SCN5A	672	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0008103	0	Brugada syndrome;not provided;not specified	unknown	0.005660842	0.000787595	0	0	VariationID_67704
SCN5A:673:L:P	SCN5A	673	L	P	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67705
SCN5A:673:L:P	SCN5A	673	L	P	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:680:R:H	SCN5A	680	R	H	ENST00000333535;NM_198056.2	SUDDEN INFANT DEATH SYNDROME;not specified	NA	unknown	clinvar	unknown	Likely benign	0	2	SUDDEN INFANT DEATH SYNDROME;not specified	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_67706
SCN5A:680:R:H	SCN5A	680	R	H	ENST00000333535;NM_198056.2	Sudden infant death syndrome	NA	unknown	hgmd	unknown	DM	0	2	Sudden infant death syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	17210839,21385947,22677073,17210841
SCN5A:681:H:P	SCN5A	681	H	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67707
SCN5A:681:H:P	SCN5A	681	H	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	11901046,12741714
SCN5A:683:C:G	SCN5A	683	C	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	VariationID_67708
SCN5A:683:C:G	SCN5A	683	C	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	20129283,24136861
SCN5A:683:C:R	SCN5A	683	C	R	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201468
SCN5A:683:C:S	SCN5A	683	C	S	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201469
SCN5A:686:C:Y	SCN5A	686	C	Y	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN5A:689:R:C	SCN5A	689	R	C	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	1.628e-05	1	Congenital long QT syndrome	maf_pathogenic	0.18699187	0.02601626	0	0	VariationID_67709
SCN5A:689:R:C	SCN5A	689	R	C	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.628e-05	2	Long QT syndrome	maf_pathogenic	0.18699187	0.02601626	0	0	19716085
SCN5A:689:R:H	SCN5A	689	R	H	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001017	0	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;not provided;not specified	unknown	0.06295754	0.092532943	0	0	VariationID_67710
SCN5A:689:R:H	SCN5A	689	R	H	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0001017	1	Long QT syndrome	unknown	0.06295754	0.092532943	0	0	16414944,15851227,25637381,23465283,24055113,22490985,22490985,20129283,21321465,22378279,28341781
SCN5A:689:R:H	SCN5A	689	R	H	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001017	unknown	DEE	unknown	0.06295754	0.092532943	0	0	Heyne_etal_bioRxiv2019
SCN5A:691:A:T	SCN5A	691	A	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	6.917e-05	1	Congenital long QT syndrome	maf_pathogenic	0.043977055	0.006118547	0	0	VariationID_67711
SCN5A:691:A:T	SCN5A	691	A	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	6.917e-05	2	Long QT syndrome	maf_pathogenic	0.043977055	0.006118547	0	0	15176425
SCN5A:692:Q:K	SCN5A	692	Q	K	ENST00000333535;NM_198056.2	Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;Long QT syndrome;Long QT syndrome 3;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0003457	0	Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;Long QT syndrome;Long QT syndrome 3;not provided;not specified	unknown	0.030837004	0.001566324	0	0	VariationID_67712
SCN5A:692:Q:K	SCN5A	692	Q	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0003457	1	Long QT syndrome	unknown	0.030837004	0.001566324	0	0	12566525,15851227,25637381,23465283,26656175,24055113,26159999,20129283,22378279
SCN5A:692:Q:K	SCN5A	692	Q	K	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003457	unknown	DEE	unknown	0.030837004	0.001566324	0	0	Heyne_etal_bioRxiv2019
SCN5A:693:R:C	SCN5A	693	R	C	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	5.692e-05	2	not specified	maf_pathogenic	0.009287926	0.071826625	0	0	VariationID_423924
SCN5A:701:P:L	SCN5A	701	P	L	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	9.748e-05	0	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;not specified	unknown	0.035769829	0.036080871	0	0	VariationID_67713
SCN5A:701:P:L	SCN5A	701	P	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	9.748e-05	2	Long QT syndrome	unknown	0.035769829	0.036080871	0	0	19716085,24573164,26332594
SCN5A:701:P:Q	SCN5A	701	P	Q	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN5A:705:S:F	SCN5A	705	S	F	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	not provided	4.467e-05	1	not provided	maf_pathogenic	0.00990099	0.010561056	0	0	VariationID_67715
SCN5A:709:G:V	SCN5A	709	G	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67716
SCN5A:709:G:V	SCN5A	709	G	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	20541041
SCN5A:714:V:A	SCN5A	714	V	A	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	5.279e-05	2	Brugada syndrome	maf_pathogenic	0.009287926	0.009907121	0	0	VariationID_242192
SCN5A:717:P:L	SCN5A	717	P	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	4.061e-06	1	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	VariationID_67717
SCN5A:717:P:L	SCN5A	717	P	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	1	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	20129283,23414114,24136861
SCN5A:726:C:Y	SCN5A	726	C	Y	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201470
SCN5A:728:V:I	SCN5A	728	V	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	8.123e-06	2	Brugada syndrome	maf_pathogenic	0.036144578	0.279518072	0	0	22984773
SCN5A:731:T:I	SCN5A	731	T	I	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67718
SCN5A:731:T:I	SCN5A	731	T	I	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:732:L:P	SCN5A	732	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_463309
SCN5A:735:A:E	SCN5A	735	A	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67720
SCN5A:735:A:E	SCN5A	735	A	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	11901046
SCN5A:735:A:T	SCN5A	735	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.029126214	0.613592233	0	0	VariationID_67719
SCN5A:735:A:T	SCN5A	735	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.029126214	0.613592233	0	0	20609320
SCN5A:735:A:V	SCN5A	735	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Pathogenic/Likely pathogenic	4.064e-06	2	Brugada syndrome;Brugada syndrome 1	maf_pathogenic	0.016393443	0.563934426	0	0	VariationID_9391
SCN5A:735:A:V	SCN5A	735	A	V	ENST00000333535;NM_198056.2	Sudden unexplained nocturnal death syndrome	NA	unknown	hgmd	unknown	DM	4.064e-06	2	Sudden unexplained nocturnal death syndrome	maf_pathogenic	0.016393443	0.563934426	0	0	11823453,22795782,26283144,28341781
SCN5A:736:L:P	SCN5A	736	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_463310
SCN5A:737:E:K	SCN5A	737	E	K	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201471
SCN5A:738:H:P	SCN5A	738	H	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome 1	maf_pathogenic	NA	NA	0	0	VariationID_431376
SCN5A:746:E:K	SCN5A	746	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.038e-05	2	Brugada syndrome;not specified	maf_pathogenic	0.013452915	0.37309417	0	0	VariationID_67721
SCN5A:746:E:K	SCN5A	746	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	2.038e-05	2	Brugada syndrome	maf_pathogenic	0.013452915	0.37309417	0	0	20129283,26332594
SCN5A:747:E:A	SCN5A	747	E	A	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.077e-06	2	not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_505332
SCN5A:750:Q:R	SCN5A	750	Q	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67722
SCN5A:750:Q:R	SCN5A	750	Q	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:752:G:R	SCN5A	752	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	4.084e-06	3	Brugada syndrome;Cardiovascular phenotype;not provided	maf_pathogenic	0.013452915	0.731838565	1	1	VariationID_67723
SCN5A:752:G:R	SCN5A	752	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	4.084e-06	2	Brugada syndrome	maf_pathogenic	0.013452915	0.731838565	1	1	12693506,24365614,20022821,26283144
SCN5A:754:L:Q	SCN5A	754	L	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_406449
SCN5A:758:G:E	SCN5A	758	G	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67724
SCN5A:758:G:E	SCN5A	758	G	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:759:I:F	SCN5A	759	I	F	ENST00000333535;NM_198056.2	Cardiovascular phenotype;Congenital long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype;Congenital long QT syndrome	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_67725
SCN5A:759:I:F	SCN5A	759	I	F	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.069767442	0.074418605	0	0	19862833,24596401
SCN5A:764:M:I	SCN5A	764	M	I	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN5A:764:M:R	SCN5A	764	M	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67726
SCN5A:764:M:R	SCN5A	764	M	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:764:M:T	SCN5A	764	M	T	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201472
SCN5A:772:D:N	SCN5A	772	D	N	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiomyopathy;Congenital long QT syndrome;Primary dilated cardiomyopathy;not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.031e-05	3	Brugada syndrome;Cardiomyopathy;Congenital long QT syndrome;Primary dilated cardiomyopathy;not specified	maf_pathogenic	0.12568306	0.126775956	0	0	VariationID_48294
SCN5A:772:D:N	SCN5A	772	D	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	2.031e-05	1	Long QT syndrome	maf_pathogenic	0.12568306	0.126775956	0	0	19716085,23571586,24136861
SCN5A:773:P:S	SCN5A	773	P	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67727
SCN5A:773:P:S	SCN5A	773	P	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:777:F:L	SCN5A	777	F	L	ENST00000333535;NM_198056.2	Heart block type 1	NA	unknown	hgmd	unknown	DM	0	2	Heart block type 1	maf_pathogenic	0.069767442	0.539534884	0	0	22247482
SCN5A:777:F:Y	SCN5A	777	F	Y	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201473
SCN5A:779:Q:K	SCN5A	779	Q	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.365079365	0.368253968	0	0	VariationID_67728
SCN5A:779:Q:K	SCN5A	779	Q	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.365079365	0.368253968	0	0	20541041,28341781
SCN5A:785:D:N	SCN5A	785	D	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	24581105
SCN5A:789:V:I	SCN5A	789	V	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	5.687e-05	2	Brugada syndrome;not specified	maf_pathogenic	0.009287926	0.071826625	0	0	VariationID_67729
SCN5A:789:V:I	SCN5A	789	V	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	5.687e-05	2	Brugada syndrome	maf_pathogenic	0.009287926	0.071826625	0	0	20129283
SCN5A:794:M:T	SCN5A	794	M	T	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_379063
SCN5A:795:E:K	SCN5A	795	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_406433
SCN5A:797:G:V	SCN5A	797	G	V	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	0.518072289	0.038554217	0	0	VariationID_519096
SCN5A:797:G:V	SCN5A	797	G	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	1	Long QT syndrome	maf_pathogenic	0.518072289	0.038554217	0	0	26669661
SCN5A:800:R:C	SCN5A	800	R	C	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.136e-06	2	not specified	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_449205
SCN5A:800:R:H	SCN5A	800	R	H	ENST00000333535;NM_198056.2	Arrhythmogenic right ventricular cardiomyopathy;Brugada syndrome	NA	unknown	clinvar	unknown	Uncertain significance	1.629e-05	3	Arrhythmogenic right ventricular cardiomyopathy;Brugada syndrome	maf_pathogenic	0.018404908	0.019631902	0	0	VariationID_222807
SCN5A:800:R:L	SCN5A	800	R	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.072e-06	2	Brugada syndrome	maf_pathogenic	0.518072289	0.038554217	0	0	VariationID_406437
SCN5A:800:R:L	SCN5A	800	R	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.072e-06	2	Long QT syndrome	maf_pathogenic	0.518072289	0.038554217	0	0	23376825,28412158,28412158
SCN5A:805:S:L	SCN5A	805	S	L	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.15e-06	2	not specified	maf_pathogenic	0.029126214	0.031067961	0	0	VariationID_452038
SCN5A:807:L:P	SCN5A	807	L	P	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_418652
SCN5A:808:R:C	SCN5A	808	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	8.164e-06	2	Brugada syndrome	maf_pathogenic	0.024390244	0.513821138	0	0	19406494
SCN5A:808:R:H	SCN5A	808	R	H	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	4.086e-06	2	Long QT syndrome	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_191501
SCN5A:808:R:P	SCN5A	808	R	P	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67730
SCN5A:808:R:P	SCN5A	808	R	P	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	19862833,24136861
SCN5A:811:R:C	SCN5A	811	R	C	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201474
SCN5A:811:R:H	SCN5A	811	R	H	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	1.231e-05	2	Cardiovascular phenotype	maf_pathogenic	0.020979021	0.302097902	0	0	VariationID_519424
SCN5A:811:R:H	SCN5A	811	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	1.231e-05	2	Brugada syndrome	maf_pathogenic	0.020979021	0.302097902	0	0	23424222
SCN5A:812:L:Q	SCN5A	812	L	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	26279430
SCN5A:814:R:Q	SCN5A	814	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	2.463e-05	0	Brugada syndrome;Cardiovascular phenotype;not provided	maf_pathogenic	0.09287257	0.222894168	0	0	VariationID_67732
SCN5A:814:R:Q	SCN5A	814	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	2.463e-05	2	Brugada syndrome	maf_pathogenic	0.09287257	0.222894168	0	0	17442746,28341781
SCN5A:814:R:W	SCN5A	814	R	W	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Primary dilated cardiomyopathy;not provided	NA	unknown	clinvar	unknown	Pathogenic/Likely pathogenic	0	3	Brugada syndrome;Cardiovascular phenotype;Primary dilated cardiomyopathy;not provided	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_67731
SCN5A:814:R:W	SCN5A	814	R	W	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	0	2	Cardiomyopathy%2C dilated	maf_pathogenic	0.130434783	0.139130435	0	0	15671429,24815523,26733869,18048769,27532257
SCN5A:816:F:Y	SCN5A	816	F	Y	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.277108434	0.038554217	0	0	VariationID_67733
SCN5A:816:F:Y	SCN5A	816	F	Y	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.277108434	0.038554217	0	0	19716085,27287068
SCN5A:817:K:E	SCN5A	817	K	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	26776555
SCN5A:822:W:C	SCN5A	822	W	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	22840528
SCN5A:828:L:F	SCN5A	828	L	F	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	0	2	Cardiomyopathy%2C dilated	maf_pathogenic	NA	NA	0	0	26383716
SCN5A:828:L:V	SCN5A	828	L	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	23631430
SCN5A:833:G:R	SCN5A	833	G	R	ENST00000333535;NM_198056.2	Brugada syndrome;Long QT syndrome;Long QT syndrome 3;not provided;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001585	3	Brugada syndrome;Long QT syndrome;Long QT syndrome 3;not provided;not specified	unknown	0.00373599	0.003985056	0	0	VariationID_67734
SCN5A:833:G:R	SCN5A	833	G	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0001585	2	Long QT syndrome	unknown	0.00373599	0.003985056	0	0	19862833,25637381,26332594
SCN5A:834:N:D	SCN5A	834	N	D	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	23631430
SCN5A:835:S:L	SCN5A	835	S	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67735
SCN5A:835:S:L	SCN5A	835	S	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	15277732
SCN5A:836:V:M	SCN5A	836	V	M	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.063e-06	2	not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_451632
SCN5A:839:L:P	SCN5A	839	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.024390244	0.676422764	0	0	VariationID_67737
SCN5A:839:L:P	SCN5A	839	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.024390244	0.676422764	0	0	16426410,24136861
SCN5A:840:G:R	SCN5A	840	G	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_67738
SCN5A:840:G:R	SCN5A	840	G	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	NA	NA	1	1	19862833
SCN5A:843:T:A	SCN5A	843	T	A	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Pathogenic	0	2	Congenital long QT syndrome;not provided	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67739
SCN5A:843:T:A	SCN5A	843	T	A	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	16244680
SCN5A:846:L:R	SCN5A	846	L	R	ENST00000333535;NM_198056.2	Ventricular fibrillation%2C idiopathic	NA	unknown	hgmd	unknown	DM	0	2	Ventricular fibrillation%2C idiopathic	maf_pathogenic	0.069767442	0.539534884	0	0	22028457,28341781
SCN5A:848:I:F	SCN5A	848	I	F	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.061e-06	3	Brugada syndrome;Congenital long QT syndrome;not specified	maf_pathogenic	0.365079365	0.050793651	0	0	VariationID_67740
SCN5A:848:I:F	SCN5A	848	I	F	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.061e-06	2	Long QT syndrome	maf_pathogenic	0.365079365	0.050793651	0	0	19716085
SCN5A:849:I:N	SCN5A	849	I	N	ENST00000333535;NM_198056.2	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	0	2	Sudden unexplained death	maf_pathogenic	0.130434783	0.139130435	0	0	24631775
SCN5A:851:F:L	SCN5A	851	F	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	4.061e-06	1	Brugada syndrome	maf_pathogenic	0.029126214	0.419417476	0	0	VariationID_67742
SCN5A:851:F:L	SCN5A	851	F	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.029126214	0.419417476	0	0	VariationID_67741
SCN5A:851:F:L	SCN5A	851	F	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.029126214	0.419417476	0	0	20129283,24136861
SCN5A:851:F:L	SCN5A	851	F	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.029126214	0.419417476	0	0	11901046
SCN5A:857:G:D	SCN5A	857	G	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.218e-05	2	Brugada syndrome	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_406414
SCN5A:858:M:L	SCN5A	858	M	L	ENST00000333535;NM_198056.2	Phenotype modifier	NA	unknown	hgmd	unknown	DM	0	2	Phenotype modifier	maf_pathogenic	0.036144578	0.038554217	0	0	24948852
SCN5A:866:S:L	SCN5A	866	S	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.218e-05	2	Brugada syndrome	maf_pathogenic	0.018404908	0.019631902	0	0	VariationID_463312
SCN5A:867:E:Q	SCN5A	867	E	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67743
SCN5A:867:E:Q	SCN5A	867	E	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:872:D:N	SCN5A	872	D	N	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.624e-05	2	not specified	maf_pathogenic	0.029126214	0.031067961	0	0	VariationID_201476
SCN5A:872:D:N	SCN5A	872	D	N	ENST00000333535;NM_198056.2	Cardiomyopathy%2C hypertrophic	NA	unknown	hgmd	unknown	DM	1.624e-05	1	Cardiomyopathy%2C hypertrophic	maf_pathogenic	0.029126214	0.031067961	0	0	26656175
SCN5A:873:S:L	SCN5A	873	S	L	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201477
SCN5A:876:L:M	SCN5A	876	L	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_463313
SCN5A:877:P:R	SCN5A	877	P	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_406443
SCN5A:878:R:C	SCN5A	878	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Brugada syndrome;Cardiovascular phenotype;not provided	maf_pathogenic	0.004037685	0.865679677	1	1	VariationID_67744
SCN5A:878:R:C	SCN5A	878	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.004037685	0.865679677	1	1	20539757,28449774,24136861,18616619
SCN5A:878:R:H	SCN5A	878	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.024390244	0.83902439	0	0	VariationID_67745
SCN5A:878:R:H	SCN5A	878	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.024390244	0.83902439	1	1	20129283,24136861
SCN5A:883:D:N	SCN5A	883	D	N	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_180104
SCN5A:886:H:P	SCN5A	886	H	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Likely pathogenic	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67746
SCN5A:886:H:P	SCN5A	886	H	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:890:I:T	SCN5A	890	I	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.029126214	0.613592233	0	0	23308164
SCN5A:892:F:I	SCN5A	892	F	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67747
SCN5A:892:F:I	SCN5A	892	F	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	11901046
SCN5A:892:F:L	SCN5A	892	F	L	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519207
SCN5A:893:R:C	SCN5A	893	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	4.061e-06	0	Brugada syndrome;Cardiovascular phenotype;not specified	maf_pathogenic	0.024390244	0.513821138	0	0	VariationID_67748
SCN5A:893:R:C	SCN5A	893	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.024390244	0.513821138	0	0	20129283,24136861,28341781
SCN5A:893:R:H	SCN5A	893	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.061e-06	2	Brugada syndrome;not specified	maf_pathogenic	0.014778325	0.606896552	0	0	VariationID_67749
SCN5A:893:R:H	SCN5A	893	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.014778325	0.606896552	0	0	20129283,24136861
SCN5A:896:C:S	SCN5A	896	C	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67750
SCN5A:896:C:S	SCN5A	896	C	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	11901046
SCN5A:897:G:E	SCN5A	897	G	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	25904541
SCN5A:901:E:K	SCN5A	901	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.020979021	0.861538462	0	0	VariationID_67752
SCN5A:901:E:K	SCN5A	901	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.020979021	0.861538462	1	1	20129283,24136861
SCN5A:910:S:L	SCN5A	910	S	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	4.063e-06	2	Brugada syndrome;Cardiovascular phenotype;Inborn genetic diseases	maf_pathogenic	0.029126214	0.80776699	1	1	VariationID_67753
SCN5A:910:S:L	SCN5A	910	S	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	4.063e-06	2	Brugada syndrome	maf_pathogenic	0.029126214	0.80776699	1	1	11901046,28104484
SCN5A:912:Q:R	SCN5A	912	Q	R	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.064e-06	2	not specified	maf_pathogenic	0.365079365	0.050793651	0	0	VariationID_235058
SCN5A:912:Q:R	SCN5A	912	Q	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.064e-06	2	Long QT syndrome	maf_pathogenic	0.365079365	0.050793651	0	0	23631430
SCN5A:915:C:R	SCN5A	915	C	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67754
SCN5A:915:C:R	SCN5A	915	C	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:917:L:R	SCN5A	917	L	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67755
SCN5A:917:L:R	SCN5A	917	L	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:919:F:S	SCN5A	919	F	S	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201479
SCN5A:924:V:F	SCN5A	924	V	F	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_449604
SCN5A:924:V:I	SCN5A	924	V	I	ENST00000333535;NM_198056.2	Brugada syndrome;Brugada syndrome;Long QT syndrome 3;Ventricular tachycardia;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001225	0	Brugada syndrome;Brugada syndrome;Long QT syndrome 3;Ventricular tachycardia;not provided;not specified	unknown	0.004524887	0.004826546	0	0	VariationID_48295
SCN5A:924:V:I	SCN5A	924	V	I	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001225	unknown	DEE	unknown	0.004524887	0.004826546	0	0	Heyne_etal_bioRxiv2019
SCN5A:927:N:S	SCN5A	927	N	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.029126214	0.80776699	0	0	VariationID_67756
SCN5A:927:N:S	SCN5A	927	N	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.029126214	0.80776699	1	1	16764707
SCN5A:928:L:P	SCN5A	928	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67757
SCN5A:928:L:P	SCN5A	928	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:935:L:P	SCN5A	935	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67759
SCN5A:935:L:P	SCN5A	935	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:939:L:F	SCN5A	939	L	F	ENST00000333535;NM_198056.2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	maf_pathogenic	NA	NA	0	0	VariationID_345122
SCN5A:941:S:C	SCN5A	941	S	C	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519520
SCN5A:949:A:D	SCN5A	949	A	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_201480
SCN5A:950:P:S	SCN5A	950	P	S	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201481
SCN5A:953:D:E	SCN5A	953	D	E	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.139e-06	2	not specified	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_201482
SCN5A:959:L:F	SCN5A	959	L	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_463315
SCN5A:960:Q:K	SCN5A	960	Q	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67762
SCN5A:960:Q:K	SCN5A	960	Q	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:964:A:T	SCN5A	964	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_463316
SCN5A:965:R:C	SCN5A	965	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Likely pathogenic	6.567e-05	2	Brugada syndrome;not provided	maf_pathogenic	0.042357274	0.263720074	0	0	VariationID_67763
SCN5A:965:R:C	SCN5A	965	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	6.567e-05	2	Brugada syndrome	maf_pathogenic	0.042357274	0.263720074	0	0	11901046,19272188,24762593,23631430,28600387
SCN5A:965:R:H	SCN5A	965	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	8.242e-06	2	Brugada syndrome;not specified	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67764
SCN5A:965:R:H	SCN5A	965	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	8.242e-06	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	16764707,24573164,27153395
SCN5A:965:R:L	SCN5A	965	R	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67765
SCN5A:965:R:L	SCN5A	965	R	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:971:R:C	SCN5A	971	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	4.15e-06	0	Brugada syndrome;not provided	maf_pathogenic	0.223300971	0.031067961	0	0	VariationID_67766
SCN5A:971:R:C	SCN5A	971	R	C	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.15e-06	2	Long QT syndrome	maf_pathogenic	0.223300971	0.031067961	0	0	15840476
SCN5A:974:K:N	SCN5A	974	K	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	1	Brugada syndrome	maf_pathogenic	NA	NA	0	0	25401102
SCN5A:975:R:Q	SCN5A	975	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	3.762e-05	3	Brugada syndrome;not specified	maf_pathogenic	0.012345679	0.013168724	0	0	VariationID_201483
SCN5A:975:R:W	SCN5A	975	R	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.931e-05	2	Brugada syndrome;not provided	maf_pathogenic	0.113300493	0.015763547	0	0	VariationID_67767
SCN5A:975:R:W	SCN5A	975	R	W	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	2.931e-05	2	Long QT syndrome	maf_pathogenic	0.113300493	0.015763547	0	0	19322600,15851227,27816319,20129283
SCN5A:981:C:F	SCN5A	981	C	F	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67768
SCN5A:981:C:F	SCN5A	981	C	F	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:982:C:R	SCN5A	982	C	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	7.969e-05	3	Brugada syndrome;Sudden cardiac death;not specified	unknown	0.032716927	0.00455192	0	0	VariationID_67769
SCN5A:982:C:R	SCN5A	982	C	R	ENST00000333535;NM_198056.2	Sudden adult death syndrome	NA	unknown	hgmd	unknown	DM	7.969e-05	2	Sudden adult death syndrome	unknown	0.032716927	0.00455192	0	0	16712702,25637381,27000522,24055113
SCN5A:982:C:R	SCN5A	982	C	R	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	7.969e-05	unknown	DEE	unknown	0.032716927	0.00455192	0	0	Heyne_etal_bioRxiv2019
SCN5A:983:G:D	SCN5A	983	G	D	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.94e-05	unknown	DEE	maf_pathogenic	0.018404908	0.019631902	0	0	Heyne_etal_bioRxiv2019
SCN5A:986:R:Q	SCN5A	986	R	Q	ENST00000333535;NM_198056.2	not provided;not specified	NA	unknown	clinvar	unknown	Likely benign	2.96e-05	2	not provided;not specified	maf_pathogenic	0.013452915	0.014349776	0	0	VariationID_67770
SCN5A:986:R:Q	SCN5A	986	R	Q	ENST00000333535;NM_198056.2	Atrial fibrillation	NA	unknown	hgmd	unknown	DM	2.96e-05	1	Atrial fibrillation	maf_pathogenic	0.013452915	0.014349776	0	0	26129877,26129877
SCN5A:986:R:W	SCN5A	986	R	W	ENST00000333535;NM_198056.2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome;not specified	maf_pathogenic	0.277108434	0.038554217	0	0	VariationID_201485
SCN5A:988:R:Q	SCN5A	988	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	5.08e-05	3	Brugada syndrome;not specified	maf_pathogenic	0.00990099	0.076567657	0	0	VariationID_201551
SCN5A:988:R:W	SCN5A	988	R	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.121e-05	3	Brugada syndrome;not specified	maf_pathogenic	0.020979021	0.162237762	0	0	VariationID_201486
SCN5A:988:R:W	SCN5A	988	R	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	2.121e-05	2	Brugada syndrome	maf_pathogenic	0.020979021	0.162237762	0	0	23321620
SCN5A:993:A:T	SCN5A	993	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	8.476e-06	2	Brugada syndrome	maf_pathogenic	0.300699301	0.022377622	0	0	VariationID_463317
SCN5A:993:A:T	SCN5A	993	A	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	8.476e-06	2	Long QT syndrome 3	maf_pathogenic	0.300699301	0.022377622	0	0	27287068
SCN5A:997:A:D	SCN5A	997	A	D	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.215e-05	3	not specified	maf_pathogenic	0.013452915	0.014349776	0	0	VariationID_165149
SCN5A:997:A:D	SCN5A	997	A	D	ENST00000333535;NM_198056.2	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	4.215e-05	2	Sudden unexplained death	maf_pathogenic	0.013452915	0.014349776	0	0	24631775
SCN5A:997:A:S	SCN5A	997	A	S	ENST00000333535;NM_198056.2	Congenital long QT syndrome;Long QT syndrome 3;not provided	NA	unknown	clinvar	unknown	Pathogenic	0	2	Congenital long QT syndrome;Long QT syndrome 3;not provided	maf_pathogenic	0.277108434	0.038554217	0	0	VariationID_9388
SCN5A:997:A:S	SCN5A	997	A	S	ENST00000333535;NM_198056.2	Sudden infant death syndrome	NA	unknown	hgmd	unknown	DM	0	2	Sudden infant death syndrome	maf_pathogenic	0.277108434	0.038554217	0	0	11710892
SCN5A:997:A:T	SCN5A	997	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	7.593e-05	0	Brugada syndrome;Brugada syndrome;SUDDEN INFANT DEATH SYNDROME;not specified	unknown	0.005964215	0.04612326	0	0	VariationID_67771
SCN5A:997:A:T	SCN5A	997	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	7.593e-05	2	Brugada syndrome	unknown	0.005964215	0.04612326	0	0	20129283,24613995,24613995
SCN5A:1004:C:R	SCN5A	1004	C	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0.000292	3	Congenital long QT syndrome;not specified	unknown	0.015939016	0.002217602	0	0	VariationID_67772
SCN5A:1004:C:R	SCN5A	1004	C	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.000292	2	Long QT syndrome	unknown	0.015939016	0.002217602	0	0	19716085,27077130
SCN5A:1008:P:S	SCN5A	1008	P	S	ENST00000333535;NM_198056.2	Cardiac conduction defect, nonspecific	NA	unknown	clinvar	unknown	not provided	4.141e-06	1	Cardiac conduction defect, nonspecific	maf_pathogenic	0.518072289	0.038554217	0	0	VariationID_67773
SCN5A:1008:P:S	SCN5A	1008	P	S	ENST00000333535;NM_198056.2	Cardiac conduction disease	NA	unknown	hgmd	unknown	DM	4.141e-06	2	Cardiac conduction disease	maf_pathogenic	0.518072289	0.038554217	0	0	20025708
SCN5A:1011:P:L	SCN5A	1011	P	L	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.308e-05	2	not specified	maf_pathogenic	0.016393443	0.017486339	0	0	VariationID_403421
SCN5A:1011:P:L	SCN5A	1011	P	L	ENST00000333535;NM_198056.2	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	3.308e-05	2	Sudden unexplained death	maf_pathogenic	0.016393443	0.017486339	0	0	24631775
SCN5A:1016:T:M	SCN5A	1016	T	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	7.38e-05	0	Brugada syndrome;not provided;not specified	unknown	0.006772009	0.007223476	0	0	VariationID_67774
SCN5A:1021:P:S	SCN5A	1021	P	S	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.225e-05	3	not specified	maf_pathogenic	0.56284153	0.017486339	0	0	VariationID_201484
SCN5A:1021:P:S	SCN5A	1021	P	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.225e-05	2	Long QT syndrome	maf_pathogenic	0.56284153	0.017486339	0	0	23174487
SCN5A:1023:R:C	SCN5A	1023	R	C	ENST00000333535;NM_198056.2	Ventricular fibrillation%2C idiopathic	NA	unknown	hgmd	unknown	DM	2.041e-05	2	Ventricular fibrillation%2C idiopathic	maf_pathogenic	0.024390244	0.02601626	0	0	23168001
SCN5A:1023:R:H	SCN5A	1023	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002939	0	Brugada syndrome;not specified	unknown	0.001848429	0.038940234	0	0	VariationID_67775
SCN5A:1023:R:H	SCN5A	1023	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0.0002939	2	Brugada syndrome	unknown	0.001848429	0.038940234	0	0	16344400,24573164
SCN5A:1027:R:Q	SCN5A	1027	R	Q	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.073e-05	2	not specified	maf_pathogenic	0.07120743	0.009907121	0	0	VariationID_520458
SCN5A:1027:R:W	SCN5A	1027	R	W	ENST00000333535;NM_198056.2	Cardiomyopathy%2C right ventricular	NA	unknown	hgmd	unknown	DM	0	1	Cardiomyopathy%2C right ventricular	maf_pathogenic	0.069767442	0.074418605	0	0	24981977
SCN5A:1029:E:K	SCN5A	1029	E	K	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_424500
SCN5A:1032:E:K	SCN5A	1032	E	K	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.884e-05	2	not specified	maf_pathogenic	0.063360882	0.008815427	0	0	VariationID_201490
SCN5A:1032:E:K	SCN5A	1032	E	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.884e-05	1	Long QT syndrome	maf_pathogenic	0.063360882	0.008815427	0	0	26669661
SCN5A:1033:Q:R	SCN5A	1033	Q	R	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	4.067e-06	2	Brugada syndrome;Congenital long QT syndrome	maf_pathogenic	0.223300971	0.031067961	0	0	VariationID_67776
SCN5A:1033:Q:R	SCN5A	1033	Q	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.067e-06	1	Long QT syndrome	maf_pathogenic	0.223300971	0.031067961	0	0	17605181,26412604
SCN5A:1033:Q:R	SCN5A	1033	Q	R	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.067e-06	unknown	DEE	maf_pathogenic	0.223300971	0.031067961	0	0	Heyne_etal_bioRxiv2019
SCN5A:1040:G:R	SCN5A	1040	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.847e-05	2	Brugada syndrome;not provided	maf_pathogenic	0.011406844	0.0121673	0	0	VariationID_67779
SCN5A:1041:D:N	SCN5A	1041	D	N	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.099e-05	2	not specified	maf_pathogenic	0.060052219	0.060574413	0	0	VariationID_201583
SCN5A:1041:D:N	SCN5A	1041	D	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	6.099e-05	1	Brugada syndrome	maf_pathogenic	0.060052219	0.060574413	0	0	25650408
SCN5A:1043:E:Q	SCN5A	1043	E	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_463319
SCN5A:1045:V:M	SCN5A	1045	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.033e-05	2	Brugada syndrome	maf_pathogenic	0.020979021	0.022377622	0	0	VariationID_463320
SCN5A:1052:A:D	SCN5A	1052	A	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_463321
SCN5A:1053:E:K	SCN5A	1053	E	K	ENST00000333535;NM_198056.2	Atrial fibrillation, familial, 10;Brugada syndrome;Brugada syndrome 1;Congenital long QT syndrome	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001098	0	Atrial fibrillation, familial, 10;Brugada syndrome;Brugada syndrome 1;Congenital long QT syndrome	unknown	0.052247874	0.125394897	0	0	VariationID_9400
SCN5A:1053:E:K	SCN5A	1053	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0.0001098	2	Brugada syndrome	unknown	0.052247874	0.125394897	0	0	11901046,24573164,28391114,19716085
SCN5A:1055:D:G	SCN5A	1055	D	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67781
SCN5A:1055:D:G	SCN5A	1055	D	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1064:E:K	SCN5A	1064	E	K	ENST00000333535;NM_198056.2	Atrial fibrillation	NA	unknown	hgmd	unknown	DM	0	1	Atrial fibrillation	maf_pathogenic	0.130434783	0.139130435	0	0	28837624
SCN5A:1069:T:M	SCN5A	1069	T	M	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001435	3	Brugada syndrome;Congenital long QT syndrome;not specified	unknown	0.02864259	0.003985056	0	0	VariationID_67782
SCN5A:1069:T:M	SCN5A	1069	T	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0001435	2	Long QT syndrome	unknown	0.02864259	0.003985056	0	0	15840476
SCN5A:1074:S:R	SCN5A	1074	S	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	1	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	26401487
SCN5A:1075:K:N	SCN5A	1075	K	N	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519440
SCN5A:1079:S:F	SCN5A	1079	S	F	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	4.177e-06	1	Congenital long QT syndrome	maf_pathogenic	0.417475728	0.031067961	0	0	VariationID_67784
SCN5A:1079:S:F	SCN5A	1079	S	F	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.177e-06	2	Long QT syndrome	maf_pathogenic	0.417475728	0.031067961	0	0	20541041,28807990
SCN5A:1079:S:T	SCN5A	1079	S	T	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.093e-05	2	not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_201491
SCN5A:1079:S:T	SCN5A	1079	S	T	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.093e-05	unknown	DEE	maf_pathogenic	0.069767442	0.074418605	0	0	Heyne_etal_bioRxiv2019
SCN5A:1079:S:Y	SCN5A	1079	S	Y	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67783
SCN5A:1079:S:Y	SCN5A	1079	S	Y	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1082:V:A	SCN5A	1082	V	A	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	not provided	8.298e-06	1	not provided	maf_pathogenic	0.024390244	0.02601626	0	0	VariationID_67785
SCN5A:1084:G:D	SCN5A	1084	G	D	ENST00000333535;NM_198056.2	Sudden cardiac death	NA	unknown	hgmd	unknown	DM	0	1	Sudden cardiac death	maf_pathogenic	0.069767442	0.074418605	0	0	28449774
SCN5A:1084:G:R	SCN5A	1084	G	R	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_179231
SCN5A:1084:G:S	SCN5A	1084	G	S	ENST00000333535;NM_198056.2	SUDDEN INFANT DEATH SYNDROME	NA	unknown	clinvar	unknown	not provided	8.28e-06	1	SUDDEN INFANT DEATH SYNDROME	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_67786
SCN5A:1084:G:S	SCN5A	1084	G	S	ENST00000333535;NM_198056.2	Sudden infant death syndrome	NA	unknown	hgmd	unknown	DM	8.28e-06	2	Sudden infant death syndrome	maf_pathogenic	0.047619048	0.050793651	0	0	18596570,25856671
SCN5A:1088:A:T	SCN5A	1088	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	9.466e-05	0	Brugada syndrome;not specified	unknown	0.004392387	0.004685212	0	0	VariationID_178130
SCN5A:1090:P:L	SCN5A	1090	P	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Benign/Likely benign	0.00164	3	Brugada syndrome;Cardiovascular phenotype;not provided;not specified	unknown	0.000306654	0.020770725	0	0	VariationID_48298
SCN5A:1090:P:L	SCN5A	1090	P	L	ENST00000333535;NM_198056.2	Negative shift activation	NA	unknown	hgmd	unknown	DM	0.00164	1	Negative shift activation	unknown	0.000306654	0.020770725	0	0	15992732,27153395,18368697,18368697,18368697
SCN5A:1090:P:T	SCN5A	1090	P	T	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_518822
SCN5A:1095:W:C	SCN5A	1095	W	C	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.2e-06	2	not specified	maf_pathogenic	0.223300971	0.031067961	0	0	VariationID_432236
SCN5A:1095:W:C	SCN5A	1095	W	C	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	0.223300971	0.031067961	0	0	VariationID_519269
SCN5A:1095:W:C	SCN5A	1095	W	C	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	8.2e-06	1	Long QT syndrome	maf_pathogenic	0.223300971	0.031067961	0	0	26669661
SCN5A:1098:V:L	SCN5A	1098	V	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Likely benign	0.0001435	2	Brugada syndrome;not provided	unknown	0.054916986	0.004086845	0	0	VariationID_67788
SCN5A:1098:V:M	SCN5A	1098	V	M	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_519205
SCN5A:1100:A:V	SCN5A	1100	A	V	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.926e-05	3	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;not specified	maf_pathogenic	0.063360882	0.008815427	0	0	VariationID_67789
SCN5A:1100:A:V	SCN5A	1100	A	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.926e-05	2	Long QT syndrome	maf_pathogenic	0.063360882	0.008815427	0	0	19716085,25637381,24055113,26332594
SCN5A:1102:A:T	SCN5A	1102	A	T	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	0.029126214	0.031067961	0	0	Heyne_etal_bioRxiv2019
SCN5A:1103:S:Y	SCN5A	1103	S	Y	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiac arrhythmia;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Long qt syndrome 3, acquired, susceptibility to;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;SUDDEN INFANT DEATH SYNDROME;Sick sinus syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity, risk factor	0.005866	0	Brugada syndrome;Cardiac arrhythmia;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Long qt syndrome 3, acquired, susceptibility to;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;SUDDEN INFANT DEATH SYNDROME;Sick sinus syndrome;not provided;not specified	unknown	0.007133498	6.66e-05	0	0	VariationID_9393
SCN5A:1106:A:S	SCN5A	1106	A	S	ENST00000333535;NM_198056.2	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	0	2	Sudden unexplained death	maf_pathogenic	0.130434783	0.139130435	0	0	24631775
SCN5A:1107:E:K	SCN5A	1107	E	K	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	not provided	0.0001405	1	not provided	unknown	0.004149378	0.004426003	0	0	VariationID_67790
SCN5A:1107:E:K	SCN5A	1107	E	K	ENST00000333535;NM_198056.2	Sudden infant death syndrome	NA	unknown	hgmd	unknown	DM	0.0001405	2	Sudden infant death syndrome	unknown	0.004149378	0.004426003	0	0	16453024
SCN5A:1109:S:G	SCN5A	1109	S	G	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.486e-05	2	not specified	maf_pathogenic	0.020979021	0.022377622	0	0	VariationID_201492
SCN5A:1113:A:V	SCN5A	1113	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	2.522e-05	1	Brugada syndrome	maf_pathogenic	0.018404908	0.142331288	0	0	VariationID_67791
SCN5A:1113:A:V	SCN5A	1113	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	2.522e-05	2	Brugada syndrome	maf_pathogenic	0.018404908	0.142331288	0	0	20129283,24573164
SCN5A:1114:D:E	SCN5A	1114	D	E	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	1	Long QT syndrome	maf_pathogenic	0.551569507	0.014349776	0	0	26669661
SCN5A:1114:D:N	SCN5A	1114	D	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	1.266e-05	2	Congenital long QT syndrome;not specified	maf_pathogenic	0.344262295	0.126775956	0	0	VariationID_67792
SCN5A:1114:D:N	SCN5A	1114	D	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.266e-05	2	Long QT syndrome	maf_pathogenic	0.344262295	0.126775956	0	0	10973849
SCN5A:1116:R:Q	SCN5A	1116	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	6.844e-05	0	Brugada syndrome;not specified	maf_pathogenic	0.054373522	0.007565012	0	0	VariationID_48299
SCN5A:1116:R:Q	SCN5A	1116	R	Q	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.844e-05	unknown	DEE	maf_pathogenic	0.054373522	0.007565012	0	0	Heyne_etal_bioRxiv2019
SCN5A:1116:R:W	SCN5A	1116	R	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.707e-05	3	Brugada syndrome;Cardiovascular phenotype;not provided	maf_pathogenic	0.016393443	0.017486339	0	0	VariationID_67793
SCN5A:1122:E:G	SCN5A	1122	E	G	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN5A:1123:P:T	SCN5A	1123	P	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_406412
SCN5A:1125:A:G	SCN5A	1125	A	G	ENST00000333535;NM_198056.2	Primary dilated cardiomyopathy	NA	unknown	clinvar	unknown	Uncertain significance	1.395e-05	1	Primary dilated cardiomyopathy	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_180515
SCN5A:1131:T:I	SCN5A	1131	T	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.541e-05	3	Atrial fibrillation;Brugada syndrome;not provided;not specified	maf_pathogenic	0.014778325	0.015763547	0	0	VariationID_67795
SCN5A:1131:T:I	SCN5A	1131	T	I	ENST00000333535;NM_198056.2	Atrial fibrillation	NA	unknown	hgmd	unknown	DM	2.541e-05	1	Atrial fibrillation	maf_pathogenic	0.014778325	0.015763547	0	0	18378609
SCN5A:1132:P:S	SCN5A	1132	P	S	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.233e-06	2	not specified	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_201493
SCN5A:1135:S:I	SCN5A	1135	S	I	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	3.811e-05	2	not provided	maf_pathogenic	0.163498099	0.0121673	0	0	VariationID_201494
SCN5A:1135:S:I	SCN5A	1135	S	I	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	3.811e-05	1	Long QT syndrome	maf_pathogenic	0.163498099	0.0121673	0	0	24667783
SCN5A:1138:E:A	SCN5A	1138	E	A	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome;not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Brugada syndrome;Congenital long QT syndrome;not provided	maf_pathogenic	NA	NA	0	0	VariationID_67796
SCN5A:1138:E:A	SCN5A	1138	E	A	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	NA	NA	1	1	19862833
SCN5A:1140:S:T	SCN5A	1140	S	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67797
SCN5A:1140:S:T	SCN5A	1140	S	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24573164
SCN5A:1142:A:V	SCN5A	1142	A	V	ENST00000333535;NM_198056.2	Brugada syndrome;Long QT syndrome 3	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome;Long QT syndrome 3	maf_pathogenic	NA	NA	0	0	VariationID_252531
SCN5A:1147:T:A	SCN5A	1147	T	A	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201584
SCN5A:1155:P:S	SCN5A	1155	P	S	ENST00000333535;NM_198056.2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	NA	unknown	clinvar	unknown	Uncertain significance	1.697e-05	2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	maf_pathogenic	0.029126214	0.031067961	0	0	VariationID_345117
SCN5A:1156:D:G	SCN5A	1156	D	G	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.967e-05	2	not specified	maf_pathogenic	0.014778325	0.015763547	0	0	VariationID_201495
SCN5A:1158:G:S	SCN5A	1158	G	S	ENST00000333535;NM_198056.2	Irritable bowel syndrome	NA	unknown	hgmd	unknown	DM	0	1	Irritable bowel syndrome	maf_pathogenic	0.047619048	0.050793651	0	0	24613995
SCN5A:1163:D:E	SCN5A	1163	D	E	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	1	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	24667783
SCN5A:1164:P:L	SCN5A	1164	P	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_242194
SCN5A:1166:D:N	SCN5A	1166	D	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67799
SCN5A:1166:D:N	SCN5A	1166	D	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:1169:T:I	SCN5A	1169	T	I	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Uncertain significance	4.174e-06	2	not provided	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_496572
SCN5A:1171:G:D	SCN5A	1171	G	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_242195
SCN5A:1174:R:W	SCN5A	1174	R	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	3.125e-05	2	Brugada syndrome	maf_pathogenic	0.010600707	0.01130742	0	0	VariationID_406413
SCN5A:1175:R:C	SCN5A	1175	R	C	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	4.463e-06	1	Congenital long QT syndrome	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_67800
SCN5A:1175:R:C	SCN5A	1175	R	C	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.463e-06	2	Long QT syndrome	maf_pathogenic	0.036144578	0.038554217	0	0	N/A
SCN5A:1175:R:H	SCN5A	1175	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.409e-05	2	Brugada syndrome	maf_pathogenic	0.010600707	0.01130742	0	0	VariationID_406448
SCN5A:1176:C:Y	SCN5A	1176	C	Y	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN5A:1177:P:L	SCN5A	1177	P	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.024390244	0.02601626	0	0	22882672
SCN5A:1180:A:V	SCN5A	1180	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001298	0	Brugada syndrome;not provided;not specified	unknown	0.025470653	0.003543743	0	0	VariationID_67801
SCN5A:1180:A:V	SCN5A	1180	A	V	ENST00000333535;NM_198056.2	Atrioventricular conduction block	NA	unknown	hgmd	unknown	DM	0.0001298	2	Atrioventricular conduction block	unknown	0.025470653	0.003543743	0	0	19808398,22247482,26332594,24227891,23963187
SCN5A:1181:V:A	SCN5A	1181	V	A	ENST00000333535;NM_198056.2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	NA	unknown	clinvar	unknown	Uncertain significance	2.587e-05	3	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	maf_pathogenic	0.024390244	0.02601626	0	0	VariationID_242196
SCN5A:1181:V:L	SCN5A	1181	V	L	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.609e-06	2	not specified	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_201496
SCN5A:1186:A:T	SCN5A	1186	A	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	2.136e-05	2	Congenital long QT syndrome;not specified	maf_pathogenic	0.12568306	0.017486339	0	0	VariationID_67802
SCN5A:1186:A:T	SCN5A	1186	A	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	2.136e-05	2	Long QT syndrome	maf_pathogenic	0.12568306	0.017486339	0	0	19996378
SCN5A:1187:P:L	SCN5A	1187	P	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_67803
SCN5A:1193:R:Q	SCN5A	1193	R	Q	ENST00000333535;NM_198056.2	Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;Long qt syndrome 3, acquired, susceptibility to;Primary familial hypertrophic cardiomyopathy;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity, risk factor	0.005176	0	Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;Long qt syndrome 3, acquired, susceptibility to;Primary familial hypertrophic cardiomyopathy;not provided;not specified	unknown	0.007720805	0.012574871	0	0	VariationID_9392
SCN5A:1193:R:Q	SCN5A	1193	R	Q	ENST00000333535;NM_198056.2	Sudden unexplained nocturnal death syndrome	NA	unknown	hgmd	unknown	DM	0.005176	1	Sudden unexplained nocturnal death syndrome	unknown	0.007720805	0.012574871	0	0	11823453,20981092,26131924,15851227,23465283,22995991,25051102,17605181,26159999,16568155,16568155,15689442,20129283,22519808,24784157,28493952,22682427,27153395,18976777,22378279,15851440,23853484,15992732,15121794,28498465
SCN5A:1193:R:W	SCN5A	1193	R	W	ENST00000333535;NM_198056.2	Brugada syndrome;Brugada syndrome;Inborn genetic diseases;Long QT syndrome 3;not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.015e-05	3	Brugada syndrome;Brugada syndrome;Inborn genetic diseases;Long QT syndrome 3;not specified	unknown	0.007092199	0.007565012	0	0	VariationID_201497
SCN5A:1194:L:M	SCN5A	1194	L	M	ENST00000333535;NM_198056.2	Long QT syndrome & atrial fibrillation	NA	unknown	hgmd	unknown	DM	0	1	Long QT syndrome & atrial fibrillation	maf_pathogenic	0.534883721	0.074418605	0	0	26746457
SCN5A:1195:R:C	SCN5A	1195	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_220250
SCN5A:1195:R:H	SCN5A	1195	R	H	ENST00000333535;NM_198056.2	Ventricular tachycardia	NA	unknown	clinvar	unknown	not provided	2.527e-05	1	Ventricular tachycardia	maf_pathogenic	0.113300493	0.114285714	0	0	VariationID_67804
SCN5A:1195:R:H	SCN5A	1195	R	H	ENST00000333535;NM_198056.2	Ventricular tachycardia	NA	unknown	hgmd	unknown	DM	2.527e-05	2	Ventricular tachycardia	maf_pathogenic	0.113300493	0.114285714	0	0	19632629,28341781
SCN5A:1199:Y:S	SCN5A	1199	Y	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67805
SCN5A:1199:Y:S	SCN5A	1199	Y	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:1206:W:C	SCN5A	1206	W	C	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	not provided	0	1	not provided	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_67806
SCN5A:1206:W:C	SCN5A	1206	W	C	ENST00000333535;NM_198056.2	Sudden cardiac death	NA	unknown	hgmd	unknown	DM	0	2	Sudden cardiac death	maf_pathogenic	0.130434783	0.139130435	0	0	18071069
SCN5A:1208:E:K	SCN5A	1208	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	1.235e-05	2	Brugada syndrome	maf_pathogenic	0.18699187	0.02601626	0	0	25904541
SCN5A:1210:F:S	SCN5A	1210	F	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Brugada syndrome;not provided	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_201498
SCN5A:1214:M:T	SCN5A	1214	M	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.098e-06	2	Brugada syndrome	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_406416
SCN5A:1217:L:R	SCN5A	1217	L	R	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201499
SCN5A:1218:S:I	SCN5A	1218	S	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.036144578	0.761445783	1	1	23424222
SCN5A:1219:S:N	SCN5A	1219	S	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67809
SCN5A:1219:S:N	SCN5A	1219	S	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1221:A:V	SCN5A	1221	A	V	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.234e-05	2	not specified	maf_pathogenic	0.18699187	0.02601626	0	0	VariationID_165141
SCN5A:1221:A:V	SCN5A	1221	A	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.234e-05	1	Long QT syndrome	maf_pathogenic	0.18699187	0.02601626	0	0	22360817
SCN5A:1223:A:P	SCN5A	1223	A	P	ENST00000333535;NM_198056.2	Cardiomyopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiomyopathy	maf_pathogenic	NA	NA	0	0	VariationID_217492
SCN5A:1225:E:K	SCN5A	1225	E	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	4.062e-06	1	Congenital long QT syndrome	maf_pathogenic	0.075907591	0.736633663	0	0	VariationID_67810
SCN5A:1225:E:K	SCN5A	1225	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	4.062e-06	2	Brugada syndrome	maf_pathogenic	0.075907591	0.736633663	1	1	12106943,24136861
SCN5A:1228:Y:H	SCN5A	1228	Y	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	4.061e-06	1	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	VariationID_67811
SCN5A:1228:Y:H	SCN5A	1228	Y	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	20129283
SCN5A:1230:E:K	SCN5A	1230	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.031e-05	2	Brugada syndrome	maf_pathogenic	0.024390244	0.02601626	0	0	VariationID_463328
SCN5A:1231:E:K	SCN5A	1231	E	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Pathogenic	1.218e-05	2	Congenital long QT syndrome;not provided	maf_pathogenic	0.223300971	0.031067961	0	0	VariationID_67812
SCN5A:1231:E:K	SCN5A	1231	E	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.218e-05	2	Long QT syndrome	maf_pathogenic	0.223300971	0.031067961	0	0	15840476
SCN5A:1232:R:Q	SCN5A	1232	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.437e-05	2	Brugada syndrome;not specified	maf_pathogenic	0.014778325	0.114285714	0	0	VariationID_67814
SCN5A:1232:R:Q	SCN5A	1232	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	2.437e-05	2	Brugada syndrome	maf_pathogenic	0.014778325	0.114285714	0	0	20129283,24136861
SCN5A:1232:R:W	SCN5A	1232	R	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Brugada syndrome;Brugada syndrome 1;Brugada syndrome 1;not specified	maf_pathogenic	0.029126214	0.80776699	0	0	VariationID_67813
SCN5A:1232:R:W	SCN5A	1232	R	W	ENST00000333535;NM_198056.2	Ventricular fibrillation%2C idiopathic	NA	unknown	hgmd	unknown	DM	0	1	Ventricular fibrillation%2C idiopathic	maf_pathogenic	0.029126214	0.80776699	0	0	9521325,11786529,21321465,24136861,11013131
SCN5A:1236:K:N	SCN5A	1236	K	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67816
SCN5A:1236:K:N	SCN5A	1236	K	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	11901046
SCN5A:1236:K:R	SCN5A	1236	K	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	4.061e-06	1	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	VariationID_67815
SCN5A:1236:K:R	SCN5A	1236	K	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	1	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	21126620
SCN5A:1237:V:I	SCN5A	1237	V	I	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201586
SCN5A:1239:L:P	SCN5A	1239	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	4.061e-06	1	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	VariationID_67817
SCN5A:1239:L:P	SCN5A	1239	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	20129283
SCN5A:1240:E:Q	SCN5A	1240	E	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	3.655e-05	2	Brugada syndrome	maf_pathogenic	0.012345679	0.095473251	0	0	VariationID_67818
SCN5A:1240:E:Q	SCN5A	1240	E	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	3.655e-05	1	Brugada syndrome	maf_pathogenic	0.012345679	0.095473251	0	0	11901046,23414114
SCN5A:1240:E:Q	SCN5A	1240	E	Q	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.655e-05	unknown	DEE	maf_pathogenic	0.012345679	0.095473251	0	0	Heyne_etal_bioRxiv2019
SCN5A:1241:Y:S	SCN5A	1241	Y	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_67819
SCN5A:1241:Y:S	SCN5A	1241	Y	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	NA	NA	1	1	19862833
SCN5A:1243:D:N	SCN5A	1243	D	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0.0001462	3	Brugada syndrome;Cardiovascular phenotype;not specified	unknown	0.003181336	0.109437964	0	0	VariationID_67820
SCN5A:1243:D:N	SCN5A	1243	D	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0.0001462	2	Brugada syndrome	unknown	0.003181336	0.109437964	0	0	20129283,27153395,23414114,26173111
SCN5A:1243:D:N	SCN5A	1243	D	N	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001462	unknown	DEE	unknown	0.003181336	0.109437964	0	0	Heyne_etal_bioRxiv2019
SCN5A:1247:T:I	SCN5A	1247	T	I	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	3.249e-05	1	Cardiomyopathy%2C dilated	maf_pathogenic	0.014778325	0.114285714	0	0	27554632,27554632,28341781
SCN5A:1249:V:D	SCN5A	1249	V	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67822
SCN5A:1249:V:D	SCN5A	1249	V	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1250:F:L	SCN5A	1250	F	L	ENST00000333535;NM_198056.2	Acquired long QT syndrome	NA	unknown	clinvar	unknown	not provided	0	1	Acquired long QT syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_67823
SCN5A:1250:F:L	SCN5A	1250	F	L	ENST00000333535;NM_198056.2	Long QT syndrome%2C drug-associated	NA	unknown	hgmd	unknown	DM	0	2	Long QT syndrome%2C drug-associated	maf_pathogenic	0.130434783	0.139130435	0	0	11997281
SCN5A:1251:V:M	SCN5A	1251	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001868	0	Brugada syndrome;Cardiovascular phenotype;not provided;not specified	unknown	0.002535926	0.002704987	0	0	VariationID_67824
SCN5A:1251:V:M	SCN5A	1251	V	M	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001868	unknown	DEE	unknown	0.002535926	0.002704987	0	0	Heyne_etal_bioRxiv2019
SCN5A:1253:E:G	SCN5A	1253	E	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67825
SCN5A:1253:E:G	SCN5A	1253	E	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:1260:A:D	SCN5A	1260	A	D	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	0	1	Cardiomyopathy%2C dilated	maf_pathogenic	0.069767442	0.074418605	0	0	27554632
SCN5A:1262:G:S	SCN5A	1262	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Pathogenic	2.842e-05	1	Brugada syndrome;Brugada syndrome 1	maf_pathogenic	0.011406844	0.31634981	0	0	VariationID_9399
SCN5A:1262:G:S	SCN5A	1262	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	2.842e-05	2	Brugada syndrome	maf_pathogenic	0.011406844	0.31634981	0	0	15338453,27554632,27554632,24136861
SCN5A:1265:K:N	SCN5A	1265	K	N	ENST00000333535;NM_198056.2	Hypertrophic cardiomyopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Hypertrophic cardiomyopathy	maf_pathogenic	NA	NA	0	0	VariationID_427973
SCN5A:1269:N:S	SCN5A	1269	N	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.672131148	0.126775956	0	0	22840528
SCN5A:1271:W:C	SCN5A	1271	W	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67827
SCN5A:1271:W:C	SCN5A	1271	W	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:1275:D:N	SCN5A	1275	D	N	ENST00000333535;NM_198056.2	Atrial fibrillation, familial, 10;Atrial standstill 1, digenic;Brugada syndrome;Cardiovascular phenotype;Dilated cardiomyopathy 1E;not provided	NA	unknown	clinvar	unknown	Pathogenic	8.123e-06	3	Atrial fibrillation, familial, 10;Atrial standstill 1, digenic;Brugada syndrome;Cardiovascular phenotype;Dilated cardiomyopathy 1E;not provided	maf_pathogenic	0.005145798	0.108404803	0	0	VariationID_9401
SCN5A:1275:D:N	SCN5A	1275	D	N	ENST00000333535;NM_198056.2	Atrial standstill	NA	unknown	hgmd	unknown	DM	8.123e-06	2	Atrial standstill	maf_pathogenic	0.005145798	0.108404803	0	0	12522116,24762805,26111534,20384651,20539757,24573164,23791817,22247482,15466643,21596231,24136861,21824921
SCN5A:1275:D:Y	SCN5A	1275	D	Y	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201500
SCN5A:1278:I:N	SCN5A	1278	I	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.754601227	0.019631902	0	0	VariationID_67828
SCN5A:1278:I:N	SCN5A	1278	I	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.754601227	0.019631902	1	1	19841300
SCN5A:1279:V:I	SCN5A	1279	V	I	ENST00000333535;NM_198056.2	Brugada syndrome;Primary dilated cardiomyopathy;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	9.344e-05	0	Brugada syndrome;Primary dilated cardiomyopathy;not specified	unknown	0.004975124	0.005306799	0	0	VariationID_67829
SCN5A:1279:V:I	SCN5A	1279	V	I	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	9.344e-05	1	Cardiomyopathy%2C dilated	unknown	0.004975124	0.005306799	0	0	21596231,25637381,23299917
SCN5A:1279:V:I	SCN5A	1279	V	I	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	9.344e-05	unknown	DEE	unknown	0.004975124	0.005306799	0	0	Heyne_etal_bioRxiv2019
SCN5A:1281:V:F	SCN5A	1281	V	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67830
SCN5A:1281:V:F	SCN5A	1281	V	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	21126620,23810369
SCN5A:1283:L:M	SCN5A	1283	L	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Congenital long QT syndrome;not specified	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67831
SCN5A:1283:L:M	SCN5A	1283	L	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:1285:S:G	SCN5A	1285	S	G	ENST00000333535;NM_198056.2	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	0	2	Sudden unexplained death	maf_pathogenic	0.130434783	0.139130435	0	0	24631775
SCN5A:1288:A:G	SCN5A	1288	A	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67832
SCN5A:1288:A:G	SCN5A	1288	A	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1293:F:S	SCN5A	1293	F	S	ENST00000333535;NM_198056.2	Brugada syndrome;Long QT syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0006225	0	Brugada syndrome;Long QT syndrome;not provided;not specified	unknown	0.000902799	0.025037617	0	0	VariationID_67833
SCN5A:1293:F:S	SCN5A	1293	F	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0.0006225	1	Brugada syndrome	unknown	0.000902799	0.025037617	0	0	11901046,15851227,22885917,20129283,27153395,23414114,N/A
SCN5A:1293:F:S	SCN5A	1293	F	S	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0006225	unknown	DEE	unknown	0.000902799	0.025037617	0	0	Heyne_etal_bioRxiv2019
SCN5A:1295:E:K	SCN5A	1295	E	K	ENST00000333535;NM_198056.2	Cardiovascular phenotype;Congenital long QT syndrome;not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Cardiovascular phenotype;Congenital long QT syndrome;not provided	maf_pathogenic	0.365079365	0.050793651	0	0	VariationID_67834
SCN5A:1295:E:K	SCN5A	1295	E	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.365079365	0.050793651	0	0	11304498
SCN5A:1298:P:L	SCN5A	1298	P	L	ENST00000333535;NM_198056.2	Sick sinus syndrome;Sick sinus syndrome 1, autosomal recessive	NA	unknown	clinvar	unknown	Pathogenic	0	1	Sick sinus syndrome;Sick sinus syndrome 1, autosomal recessive	maf_pathogenic	0.087452471	0.0121673	0	0	VariationID_9394
SCN5A:1298:P:L	SCN5A	1298	P	L	ENST00000333535;NM_198056.2	Nodal rhythm	NA	unknown	hgmd	unknown	DM	0	2	Nodal rhythm	maf_pathogenic	0.087452471	0.0121673	0	0	14523039,20448214,20384651,20539757
SCN5A:1303:R:Q	SCN5A	1303	R	Q	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	8.162e-06	2	not provided	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_372500
SCN5A:1304:T:M	SCN5A	1304	T	M	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 3;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001675	0	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 3;not specified	unknown	0.236165238	0.033671083	0	0	VariationID_67835
SCN5A:1304:T:M	SCN5A	1304	T	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0001675	2	Long QT syndrome	unknown	0.236165238	0.033671083	0	0	10508990,25637381,28412158,28412158,23465283,24613995,24055113,25210526,27153395,22685113,22378279,17210841
SCN5A:1304:T:M	SCN5A	1304	T	M	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001675	unknown	DEE	unknown	0.236165238	0.033671083	0	0	Heyne_etal_bioRxiv2019
SCN5A:1306:R:H	SCN5A	1306	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.096e-06	3	Brugada syndrome;Inborn genetic diseases;not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_180516
SCN5A:1306:R:H	SCN5A	1306	R	H	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.096e-06	unknown	DEE	maf_pathogenic	0.069767442	0.074418605	0	0	Heyne_etal_bioRxiv2019
SCN5A:1306:R:L	SCN5A	1306	R	L	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519131
SCN5A:1308:L:F	SCN5A	1308	L	F	ENST00000333535;NM_198056.2	Brugada syndrome;Brugada syndrome 1;Brugada syndrome, lidocaine-induced;Cardiovascular phenotype;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.0003278	1	Brugada syndrome;Brugada syndrome 1;Brugada syndrome, lidocaine-induced;Cardiovascular phenotype;not provided;not specified	unknown	0.001118151	0.008647037	0	0	VariationID_67836
SCN5A:1308:L:F	SCN5A	1308	L	F	ENST00000333535;NM_198056.2	Brugada syndrome%2C lidocaine-induced	NA	unknown	hgmd	unknown	DM	0.0003278	1	Brugada syndrome%2C lidocaine-induced	unknown	0.001118151	0.008647037	0	0	18599870,15851227,25637381,24055113,20129283,23414114
SCN5A:1309:R:C	SCN5A	1309	R	C	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	4.106e-06	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_265302
SCN5A:1309:R:H	SCN5A	1309	R	H	ENST00000333535;NM_198056.2	Atrial and ventricular arrhythmia	NA	unknown	hgmd	unknown	DM	4.111e-06	2	Atrial and ventricular arrhythmia	maf_pathogenic	0.020979021	0.022377622	0	0	26801742
SCN5A:1311:L:P	SCN5A	1311	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67837
SCN5A:1311:L:P	SCN5A	1311	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1316:R:L	SCN5A	1316	R	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.187e-06	2	Brugada syndrome	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_216840
SCN5A:1316:R:P	SCN5A	1316	R	P	ENST00000333535;NM_198056.2	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	0	2	Sudden unexplained death	maf_pathogenic	0.130434783	0.139130435	0	0	24631775
SCN5A:1319:G:V	SCN5A	1319	G	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Likely pathogenic	4.248e-05	3	Brugada syndrome;Cardiovascular phenotype;not provided	maf_pathogenic	0.008264463	0.339393939	1	1	VariationID_67838
SCN5A:1319:G:V	SCN5A	1319	G	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.248e-05	1	Brugada syndrome	maf_pathogenic	0.008264463	0.339393939	0	0	12106943,17854786,25179549,24573164,23414114
SCN5A:1319:G:V	SCN5A	1319	G	V	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.248e-05	unknown	DEE	maf_pathogenic	0.008264463	0.339393939	0	0	Heyne_etal_bioRxiv2019
SCN5A:1323:V:G	SCN5A	1323	V	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67839
SCN5A:1323:V:G	SCN5A	1323	V	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:1324:V:I	SCN5A	1324	V	I	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_451513
SCN5A:1325:N:S	SCN5A	1325	N	S	ENST00000333535;NM_198056.2	Congenital long QT syndrome;Long QT syndrome 3	NA	unknown	clinvar	unknown	Pathogenic	0	1	Congenital long QT syndrome;Long QT syndrome 3	maf_pathogenic	0.958592133	0.006625259	0	0	VariationID_9370
SCN5A:1325:N:S	SCN5A	1325	N	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.958592133	0.006625259	1	1	8541846,28412158,8620612,8917568,19762097
SCN5A:1326:A:S	SCN5A	1326	A	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Pathogenic	0	2	Congenital long QT syndrome;not provided	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67840
SCN5A:1326:A:S	SCN5A	1326	A	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:1328:V:M	SCN5A	1328	V	M	ENST00000333535;NM_198056.2	Brugada syndrome%2C drug-induced	NA	unknown	hgmd	unknown	DM	0	1	Brugada syndrome%2C drug-induced	maf_pathogenic	0.069767442	0.539534884	0	0	27560382,28341781
SCN5A:1329:G:S	SCN5A	1329	G	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	8.159e-06	1	Congenital long QT syndrome	maf_pathogenic	0.386503067	0.019631902	0	0	VariationID_67841
SCN5A:1329:G:S	SCN5A	1329	G	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	8.159e-06	2	Long QT syndrome	maf_pathogenic	0.386503067	0.019631902	0	0	21216356,24667783
SCN5A:1330:A:P	SCN5A	1330	A	P	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67843
SCN5A:1330:A:P	SCN5A	1330	A	P	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	11535573
SCN5A:1330:A:T	SCN5A	1330	A	T	ENST00000333535;NM_198056.2	Cardiovascular phenotype;Congenital long QT syndrome;SCN5A-related disorder;not provided	NA	unknown	clinvar	unknown	Pathogenic/Likely pathogenic	0	3	Cardiovascular phenotype;Congenital long QT syndrome;SCN5A-related disorder;not provided	maf_pathogenic	0.63190184	0.019631902	0	0	VariationID_67842
SCN5A:1330:A:T	SCN5A	1330	A	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.63190184	0.019631902	0	0	12566525
SCN5A:1332:P:L	SCN5A	1332	P	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.754601227	0.142331288	1	1	14676229,17698727,24136861
SCN5A:1332:P:R	SCN5A	1332	P	R	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201503
SCN5A:1332:P:S	SCN5A	1332	P	S	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201502
SCN5A:1333:S:Y	SCN5A	1333	S	Y	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_67845
SCN5A:1333:S:Y	SCN5A	1333	S	Y	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	16922724,19302788
SCN5A:1334:I:V	SCN5A	1334	I	V	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome;not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	4.064e-06	0	Brugada syndrome;Congenital long QT syndrome;not provided	maf_pathogenic	0.518072289	0.038554217	0	0	VariationID_67847
SCN5A:1334:I:V	SCN5A	1334	I	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.064e-06	2	Long QT syndrome	maf_pathogenic	0.518072289	0.038554217	0	0	19716085
SCN5A:1338:L:V	SCN5A	1338	L	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	4.062e-06	1	Congenital long QT syndrome	maf_pathogenic	0.365079365	0.050793651	0	0	VariationID_67848
SCN5A:1338:L:V	SCN5A	1338	L	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.062e-06	2	Long QT syndrome	maf_pathogenic	0.365079365	0.050793651	0	0	19716085
SCN5A:1340:V:I	SCN5A	1340	V	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.874e-05	3	Brugada syndrome;not specified	maf_pathogenic	0.007092199	0.10212766	0	0	VariationID_67849
SCN5A:1340:V:I	SCN5A	1340	V	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.874e-05	2	Brugada syndrome	maf_pathogenic	0.007092199	0.10212766	0	0	20129283,19648062,24136861
SCN5A:1340:V:L	SCN5A	1340	V	L	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_264236
SCN5A:1342:L:F	SCN5A	1342	L	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_406429
SCN5A:1342:L:F	SCN5A	1342	L	F	ENST00000333535;NM_198056.2	Cardiomyopathy%2C right ventricular	NA	unknown	hgmd	unknown	DM	0	1	Cardiomyopathy%2C right ventricular	maf_pathogenic	NA	NA	0	0	24981977
SCN5A:1344:F:L	SCN5A	1344	F	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67850
SCN5A:1344:F:L	SCN5A	1344	F	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1344:F:S	SCN5A	1344	F	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67851
SCN5A:1344:F:S	SCN5A	1344	F	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	16616735
SCN5A:1345:W:C	SCN5A	1345	W	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67852
SCN5A:1345:W:C	SCN5A	1345	W	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	20339501
SCN5A:1346:L:I	SCN5A	1346	L	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67853
SCN5A:1346:L:I	SCN5A	1346	L	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1346:L:P	SCN5A	1346	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67854
SCN5A:1346:L:P	SCN5A	1346	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	20129283
SCN5A:1350:I:T	SCN5A	1350	I	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67855
SCN5A:1350:I:T	SCN5A	1350	I	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	12845244
SCN5A:1351:M:R	SCN5A	1351	M	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67856
SCN5A:1351:M:R	SCN5A	1351	M	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1353:V:M	SCN5A	1353	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.842e-05	2	Brugada syndrome;not specified	maf_pathogenic	0.013452915	0.193721973	0	0	VariationID_67857
SCN5A:1353:V:M	SCN5A	1353	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	2.842e-05	2	Brugada syndrome	maf_pathogenic	0.013452915	0.193721973	0	0	20129283,28074886,24136861
SCN5A:1354:N:K	SCN5A	1354	N	K	ENST00000333535;NM_198056.2	Sick sinus syndrome	NA	unknown	hgmd	unknown	DM	0	2	Sick sinus syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	28104484
SCN5A:1357:A:V	SCN5A	1357	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	6.091e-05	0	Brugada syndrome;Cardiovascular phenotype;not provided	maf_pathogenic	0.05707196	0.007940447	0	0	VariationID_201505
SCN5A:1357:A:V	SCN5A	1357	A	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	6.091e-05	2	Long QT syndrome	maf_pathogenic	0.05707196	0.007940447	0	0	23631430,27153395
SCN5A:1358:G:W	SCN5A	1358	G	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67858
SCN5A:1358:G:W	SCN5A	1358	G	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1359:K:M	SCN5A	1359	K	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_406441
SCN5A:1359:K:N	SCN5A	1359	K	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67859
SCN5A:1359:K:N	SCN5A	1359	K	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1360:F:C	SCN5A	1360	F	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67860
SCN5A:1360:F:C	SCN5A	1360	F	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:1363:C:Y	SCN5A	1363	C	Y	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67862
SCN5A:1363:C:Y	SCN5A	1363	C	Y	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	16764707
SCN5A:1365:N:S	SCN5A	1365	N	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	23973953
SCN5A:1370:D:G	SCN5A	1370	D	G	ENST00000333535;NM_198056.2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.091e-05	3	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome;not specified	maf_pathogenic	0.009287926	0.009907121	0	0	VariationID_201506
SCN5A:1372:P:R	SCN5A	1372	P	R	ENST00000333535;NM_198056.2	Sick sinus syndrome	NA	unknown	hgmd	unknown	DM	0	2	Sick sinus syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	28104484
SCN5A:1378:V:M	SCN5A	1378	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Likely pathogenic	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	VariationID_222809
SCN5A:1378:V:M	SCN5A	1378	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	22529811
SCN5A:1380:N:K	SCN5A	1380	N	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67863
SCN5A:1380:N:K	SCN5A	1380	N	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	N/A
SCN5A:1380:N:K	SCN5A	1380	N	K	ENST00000333535;NM_198056.2	Brugada-like ST elevation	NA	unknown	hgmd	unknown	DM	0	1	Brugada-like ST elevation	maf_pathogenic	0.047619048	0.685714286	0	0	20491895
SCN5A:1382:S:I	SCN5A	1382	S	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.016393443	0.345355191	0	0	VariationID_67864
SCN5A:1382:S:I	SCN5A	1382	S	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.016393443	0.345355191	0	0	12106943,24136861
SCN5A:1391:G:R	SCN5A	1391	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	3.658e-05	3	Brugada syndrome;Cardiovascular phenotype;not specified	maf_pathogenic	0.013452915	0.014349776	0	0	VariationID_201589
SCN5A:1394:Y:C	SCN5A	1394	Y	C	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519337
SCN5A:1400:V:G	SCN5A	1400	V	G	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519443
SCN5A:1405:V:L	SCN5A	1405	V	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67867
SCN5A:1405:V:L	SCN5A	1405	V	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	12106943
SCN5A:1405:V:M	SCN5A	1405	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.036144578	0.761445783	0	0	VariationID_67866
SCN5A:1405:V:M	SCN5A	1405	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.036144578	0.761445783	1	1	20129283
SCN5A:1406:G:E	SCN5A	1406	G	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Pathogenic	0	2	Brugada syndrome;not provided	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67869
SCN5A:1406:G:E	SCN5A	1406	G	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	20129283
SCN5A:1406:G:R	SCN5A	1406	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.024390244	0.676422764	0	0	VariationID_67868
SCN5A:1406:G:R	SCN5A	1406	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.024390244	0.676422764	0	0	12106943
SCN5A:1408:G:R	SCN5A	1408	G	R	ENST00000333535;NM_198056.2	Brugada syndrome;Brugada syndrome 1;Cardiac conduction defect, nonspecific;Sick sinus syndrome 1, autosomal recessive;not provided	NA	unknown	clinvar	unknown	Pathogenic	0	3	Brugada syndrome;Brugada syndrome 1;Cardiac conduction defect, nonspecific;Sick sinus syndrome 1, autosomal recessive;not provided	maf_pathogenic	0.039451115	0.279931389	0	0	VariationID_9395
SCN5A:1408:G:R	SCN5A	1408	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.039451115	0.279931389	0	0	11748104,20539757
SCN5A:1409:Y:C	SCN5A	1409	Y	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67870
SCN5A:1409:Y:C	SCN5A	1409	Y	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:1410:L:P	SCN5A	1410	L	P	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201507
SCN5A:1412:L:F	SCN5A	1412	L	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67871
SCN5A:1412:L:F	SCN5A	1412	L	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:1416:A:E	SCN5A	1416	A	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	25650408
SCN5A:1419:K:E	SCN5A	1419	K	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67872
SCN5A:1419:K:E	SCN5A	1419	K	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:1420:G:R	SCN5A	1420	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.036144578	0.761445783	0	0	VariationID_67873
SCN5A:1420:G:R	SCN5A	1420	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.036144578	0.761445783	1	1	20129283,24136861
SCN5A:1420:G:V	SCN5A	1420	G	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67874
SCN5A:1420:G:V	SCN5A	1420	G	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	21126620
SCN5A:1423:D:N	SCN5A	1423	D	N	ENST00000333535;NM_198056.2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Primary dilated cardiomyopathy;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Primary dilated cardiomyopathy;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	maf_pathogenic	NA	NA	0	0	VariationID_222810
SCN5A:1424:I:F	SCN5A	1424	I	F	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201511
SCN5A:1427:A:E	SCN5A	1427	A	E	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_519279
SCN5A:1427:A:S	SCN5A	1427	A	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67875
SCN5A:1427:A:S	SCN5A	1427	A	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24445991
SCN5A:1428:A:S	SCN5A	1428	A	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	2.843e-05	0	Brugada syndrome;not provided;not specified	maf_pathogenic	0.060052219	0.426109661	0	0	VariationID_179030
SCN5A:1428:A:S	SCN5A	1428	A	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	2.843e-05	2	Long QT syndrome	maf_pathogenic	0.060052219	0.426109661	0	0	23237912,26332594,23321620,28341781,26136871
SCN5A:1428:A:V	SCN5A	1428	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.020979021	0.581818182	0	0	VariationID_67876
SCN5A:1428:A:V	SCN5A	1428	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.020979021	0.581818182	0	0	20129283,24136861
SCN5A:1430:D:N	SCN5A	1430	D	N	ENST00000333535;NM_198056.2	Brugada-like ST elevation	NA	unknown	hgmd	unknown	DM	0	2	Brugada-like ST elevation	maf_pathogenic	0.047619048	0.685714286	0	0	23612926
SCN5A:1432:R:G	SCN5A	1432	R	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67877
SCN5A:1432:R:G	SCN5A	1432	R	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	10727653,11420310
SCN5A:1432:R:S	SCN5A	1432	R	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Likely pathogenic	0	2	Congenital long QT syndrome;not provided	maf_pathogenic	0.277108434	0.520481928	0	0	VariationID_67878
SCN5A:1432:R:S	SCN5A	1432	R	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.277108434	0.520481928	0	0	19716085,28341781
SCN5A:1433:G:R	SCN5A	1433	G	R	ENST00000333535;NM_198056.2	Early repolarization syndrome	NA	unknown	hgmd	unknown	DM	0	2	Early repolarization syndrome	maf_pathogenic	0.069767442	0.074418605	0	0	23799537
SCN5A:1433:G:V	SCN5A	1433	G	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67879
SCN5A:1433:G:V	SCN5A	1433	G	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1433:G:W	SCN5A	1433	G	W	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519412
SCN5A:1436:E:K	SCN5A	1436	E	K	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_432640
SCN5A:1438:P:L	SCN5A	1438	P	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67880
SCN5A:1438:P:L	SCN5A	1438	P	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	18156160,24136861
SCN5A:1441:E:Q	SCN5A	1441	E	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Likely pathogenic	0	2	Brugada syndrome;Cardiovascular phenotype	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67881
SCN5A:1441:E:Q	SCN5A	1441	E	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:1443:N:S	SCN5A	1443	N	S	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	0.009287926	0.071826625	0	0	VariationID_519544
SCN5A:1443:N:S	SCN5A	1443	N	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.009287926	0.071826625	0	0	22984773
SCN5A:1446:M:I	SCN5A	1446	M	I	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201591
SCN5A:1447:Y:H	SCN5A	1447	Y	H	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_418616
SCN5A:1448:I:L	SCN5A	1448	I	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.853e-05	3	Brugada syndrome;Cardiovascular phenotype;not specified	maf_pathogenic	0.094650206	0.095473251	0	0	VariationID_67882
SCN5A:1448:I:L	SCN5A	1448	I	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	2.853e-05	2	Brugada syndrome	maf_pathogenic	0.094650206	0.095473251	0	0	20129283,24136861
SCN5A:1448:I:T	SCN5A	1448	I	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67883
SCN5A:1448:I:T	SCN5A	1448	I	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:1449:Y:C	SCN5A	1449	Y	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Likely pathogenic	0	2	Brugada syndrome;not provided	maf_pathogenic	0.014778325	0.508374384	0	0	VariationID_67884
SCN5A:1449:Y:C	SCN5A	1449	Y	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.014778325	0.508374384	0	0	20129283,24903439,24136861
SCN5A:1449:Y:S	SCN5A	1449	Y	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	24775617
SCN5A:1451:V:D	SCN5A	1451	V	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67885
SCN5A:1451:V:D	SCN5A	1451	V	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1451:V:L	SCN5A	1451	V	L	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.083e-06	2	not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_229235
SCN5A:1458:S:Y	SCN5A	1458	S	Y	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Pathogenic	0	2	Congenital long QT syndrome;not provided	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67887
SCN5A:1458:S:Y	SCN5A	1458	S	Y	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	15840476
SCN5A:1461:T:S	SCN5A	1461	T	S	ENST00000333535;NM_198056.2	Brugada 1 syndrome	NA	unknown	hgmd	unknown	DM	0	2	Brugada 1 syndrome	maf_pathogenic	0.029126214	0.419417476	0	0	28146213
SCN5A:1463:N:K	SCN5A	1463	N	K	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_422664
SCN5A:1463:N:Y	SCN5A	1463	N	Y	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67888
SCN5A:1463:N:Y	SCN5A	1463	N	Y	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:1466:I:T	SCN5A	1466	I	T	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201513
SCN5A:1466:I:V	SCN5A	1466	I	V	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201512
SCN5A:1468:V:A	SCN5A	1468	V	A	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.28e-06	3	Brugada syndrome;not specified	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_201514
SCN5A:1468:V:F	SCN5A	1468	V	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67889
SCN5A:1468:V:F	SCN5A	1468	V	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:1469:I:F	SCN5A	1469	I	F	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201592
SCN5A:1470:I:T	SCN5A	1470	I	T	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201515
SCN5A:1472:N:S	SCN5A	1472	N	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67890
SCN5A:1472:N:S	SCN5A	1472	N	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:1473:F:C	SCN5A	1473	F	C	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.682539683	0.050793651	0	0	VariationID_67892
SCN5A:1473:F:C	SCN5A	1473	F	C	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.682539683	0.050793651	0	0	18060054,23277474
SCN5A:1473:F:L	SCN5A	1473	F	L	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_389297
SCN5A:1473:F:S	SCN5A	1473	F	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67891
SCN5A:1473:F:S	SCN5A	1473	F	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	20339117
SCN5A:1475:Q:L	SCN5A	1475	Q	L	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201516
SCN5A:1476:Q:R	SCN5A	1476	Q	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.759036145	0.038554217	1	1	24098284
SCN5A:1477:K:N	SCN5A	1477	K	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	1	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	23558814
SCN5A:1481:G:E	SCN5A	1481	G	E	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67893
SCN5A:1481:G:E	SCN5A	1481	G	E	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	15840476
SCN5A:1485:I:V	SCN5A	1485	I	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	25904541
SCN5A:1486:F:L	SCN5A	1486	F	L	ENST00000333535;NM_198056.2	SUDDEN INFANT DEATH SYNDROME	NA	unknown	clinvar	unknown	not provided	0	1	SUDDEN INFANT DEATH SYNDROME	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67894
SCN5A:1486:F:L	SCN5A	1486	F	L	ENST00000333535;NM_198056.2	Sudden adult death syndrome	NA	unknown	hgmd	unknown	DM	0	2	Sudden adult death syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	17210839,20038812,17210841
SCN5A:1487:M:L	SCN5A	1487	M	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	4.061e-06	1	Congenital long QT syndrome	maf_pathogenic	0.223300971	0.031067961	0	0	VariationID_67895
SCN5A:1487:M:L	SCN5A	1487	M	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.061e-06	2	Long QT syndrome	maf_pathogenic	0.223300971	0.031067961	0	0	19716085
SCN5A:1488:T:R	SCN5A	1488	T	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67896
SCN5A:1488:T:R	SCN5A	1488	T	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:1489:E:D	SCN5A	1489	E	D	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	4.061e-06	2	Congenital long QT syndrome;not specified	maf_pathogenic	0.365079365	0.050793651	0	0	VariationID_67897
SCN5A:1489:E:D	SCN5A	1489	E	D	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.061e-06	2	Long QT syndrome	maf_pathogenic	0.365079365	0.050793651	0	0	19716085
SCN5A:1493:K:R	SCN5A	1493	K	R	ENST00000333535;NM_198056.2	Atrial fibrillation;Cardiovascular phenotype;Congenital long QT syndrome	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	8.121e-06	0	Atrial fibrillation;Cardiovascular phenotype;Congenital long QT syndrome	maf_pathogenic	0.440559441	0.022377622	0	0	VariationID_67898
SCN5A:1493:K:R	SCN5A	1493	K	R	ENST00000333535;NM_198056.2	Atrial fibrillation	NA	unknown	hgmd	unknown	DM	8.121e-06	2	Atrial fibrillation	maf_pathogenic	0.440559441	0.022377622	0	0	19167345,19716085
SCN5A:1494:Y:N	SCN5A	1494	Y	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_67899
SCN5A:1494:Y:N	SCN5A	1494	Y	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	18341814
SCN5A:1495:Y:S	SCN5A	1495	Y	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Likely pathogenic	0	2	Congenital long QT syndrome;not provided	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67900
SCN5A:1495:Y:S	SCN5A	1495	Y	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:1498:M:R	SCN5A	1498	M	R	ENST00000333535;NM_198056.2	Sick sinus syndrome	NA	unknown	hgmd	unknown	DM	0	2	Sick sinus syndrome	maf_pathogenic	0.047619048	0.050793651	0	0	26467377
SCN5A:1498:M:T	SCN5A	1498	M	T	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;not provided	maf_pathogenic	0.682539683	0.050793651	0	0	VariationID_67902
SCN5A:1498:M:T	SCN5A	1498	M	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.682539683	0.050793651	0	0	16414944
SCN5A:1498:M:V	SCN5A	1498	M	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	2	Congenital long QT syndrome;not specified	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67901
SCN5A:1498:M:V	SCN5A	1498	M	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:1499:K:N	SCN5A	1499	K	N	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_418479
SCN5A:1500:K:N	SCN5A	1500	K	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_67903
SCN5A:1501:L:P	SCN5A	1501	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_406423
SCN5A:1501:L:V	SCN5A	1501	L	V	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome	NA	unknown	clinvar	unknown	Likely pathogenic	2.03e-05	2	Brugada syndrome;Congenital long QT syndrome	maf_pathogenic	0.544513458	0.130848861	0	0	VariationID_67904
SCN5A:1501:L:V	SCN5A	1501	L	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	2.03e-05	2	Long QT syndrome	maf_pathogenic	0.544513458	0.130848861	0	0	10973849,28494446,24573164,24136861
SCN5A:1502:G:S	SCN5A	1502	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	4.061e-06	1	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	VariationID_67905
SCN5A:1502:G:S	SCN5A	1502	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	12106943,24573164
SCN5A:1503:S:P	SCN5A	1503	S	P	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	NA	NA	0	0	VariationID_67906
SCN5A:1503:S:P	SCN5A	1503	S	P	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	1	Long QT syndrome	maf_pathogenic	NA	NA	0	0	17605181
SCN5A:1505:K:N	SCN5A	1505	K	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.682539683	0.050793651	0	0	VariationID_67907
SCN5A:1505:K:N	SCN5A	1505	K	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.682539683	0.050793651	0	0	19716085
SCN5A:1506:P:L	SCN5A	1506	P	L	ENST00000333535;NM_198056.2	Arrhythmogenic right ventricular cardiomyopathy	NA	unknown	clinvar	unknown	Uncertain significance	4.061e-06	2	Arrhythmogenic right ventricular cardiomyopathy	maf_pathogenic	NA	NA	0	0	VariationID_222811
SCN5A:1506:P:S	SCN5A	1506	P	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.024390244	0.676422764	0	0	25626866,25626866
SCN5A:1506:P:T	SCN5A	1506	P	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	23321620
SCN5A:1512:R:W	SCN5A	1512	R	W	ENST00000333535;NM_198056.2	Brugada syndrome;Brugada syndrome 1;Primary familial hypertrophic cardiomyopathy;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	4.876e-05	0	Brugada syndrome;Brugada syndrome 1;Primary familial hypertrophic cardiomyopathy;not provided;not specified	maf_pathogenic	0.008746356	0.242565598	0	0	VariationID_9380
SCN5A:1512:R:W	SCN5A	1512	R	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.876e-05	2	Brugada syndrome	maf_pathogenic	0.008746356	0.242565598	0	0	10690282,15851227,20110800,26111534,10727653,20129283,28518168,27281089
SCN5A:1520:F:L	SCN5A	1520	F	L	ENST00000333535;NM_198056.2	Primary dilated cardiomyopathy	NA	unknown	clinvar	unknown	not provided	0	1	Primary dilated cardiomyopathy	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_67908
SCN5A:1520:F:L	SCN5A	1520	F	L	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	0	2	Cardiomyopathy%2C dilated	maf_pathogenic	0.130434783	0.139130435	0	0	21596231
SCN5A:1521:I:K	SCN5A	1521	I	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67909
SCN5A:1521:I:K	SCN5A	1521	I	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1522:F:Y	SCN5A	1522	F	Y	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	1	Long QT syndrome 3	maf_pathogenic	0.130434783	0.139130435	0	0	24596401
SCN5A:1524:I:T	SCN5A	1524	I	T	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.067e-06	2	not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_418480
SCN5A:1525:V:M	SCN5A	1525	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	1.22e-05	1	Brugada syndrome	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_67910
SCN5A:1525:V:M	SCN5A	1525	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	1.22e-05	1	Brugada syndrome	maf_pathogenic	0.036144578	0.038554217	0	0	20129283,23414114,24136861
SCN5A:1527:K:R	SCN5A	1527	K	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67911
SCN5A:1527:K:R	SCN5A	1527	K	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	28341781
SCN5A:1532:V:F	SCN5A	1532	V	F	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	2.438e-05	2	Long QT syndrome	maf_pathogenic	0.020979021	0.022377622	0	0	VariationID_191500
SCN5A:1532:V:I	SCN5A	1532	V	I	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome;Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002844	0	Brugada syndrome;Congenital long QT syndrome;Long QT syndrome;not specified	unknown	0.02524956	0.001879037	0	0	VariationID_67912
SCN5A:1532:V:I	SCN5A	1532	V	I	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0002844	2	Long QT syndrome	unknown	0.02524956	0.001879037	0	0	19716085,25637381,24055113
SCN5A:1543:V:A	SCN5A	1543	V	A	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	4.061e-06	1	Cardiomyopathy%2C dilated	maf_pathogenic	0.069767442	0.074418605	0	0	23785128
SCN5A:1544:T:P	SCN5A	1544	T	P	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	23631430
SCN5A:1548:E:K	SCN5A	1548	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.029126214	0.613592233	0	0	VariationID_67913
SCN5A:1548:E:K	SCN5A	1548	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.029126214	0.613592233	0	0	20129283,24136861
SCN5A:1553:S:R	SCN5A	1553	S	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67914
SCN5A:1553:S:R	SCN5A	1553	S	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	21321465
SCN5A:1559:I:V	SCN5A	1559	I	V	ENST00000333535;NM_198056.2	Cardiomyopathy	NA	unknown	clinvar	unknown	Uncertain significance	2.843e-05	2	Cardiomyopathy	maf_pathogenic	0.016393443	0.017486339	0	0	VariationID_222812
SCN5A:1560:L:F	SCN5A	1560	L	F	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	4.061e-06	1	Congenital long QT syndrome	maf_pathogenic	0.365079365	0.050793651	0	0	VariationID_67915
SCN5A:1560:L:F	SCN5A	1560	L	F	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.061e-06	2	Long QT syndrome	maf_pathogenic	0.365079365	0.050793651	0	0	19716085
SCN5A:1569:A:P	SCN5A	1569	A	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67916
SCN5A:1571:F:C	SCN5A	1571	F	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67917
SCN5A:1571:F:C	SCN5A	1571	F	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1574:E:K	SCN5A	1574	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.029126214	0.80776699	0	0	VariationID_67918
SCN5A:1574:E:K	SCN5A	1574	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.029126214	0.80776699	1	1	19808440,20129283,25525159
SCN5A:1578:K:N	SCN5A	1578	K	N	ENST00000333535;NM_198056.2	Sinus node dysfunction and atrial flutter	NA	unknown	hgmd	unknown	DM	0	2	Sinus node dysfunction and atrial flutter	maf_pathogenic	NA	NA	0	0	25346400
SCN5A:1582:L:P	SCN5A	1582	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67919
SCN5A:1582:L:P	SCN5A	1582	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	19843921
SCN5A:1583:R:C	SCN5A	1583	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	8.125e-06	3	Brugada syndrome;not specified	maf_pathogenic	0.029126214	0.419417476	0	0	VariationID_67920
SCN5A:1583:R:C	SCN5A	1583	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	8.125e-06	2	Brugada syndrome	maf_pathogenic	0.029126214	0.419417476	0	0	20129283,24136861
SCN5A:1583:R:H	SCN5A	1583	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	1.625e-05	0	Brugada syndrome;not provided;not specified	maf_pathogenic	0.020979021	0.162237762	0	0	VariationID_67921
SCN5A:1583:R:H	SCN5A	1583	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	1.625e-05	2	Brugada syndrome	maf_pathogenic	0.020979021	0.162237762	0	0	20129283,24136861
SCN5A:1584:H:Y	SCN5A	1584	H	Y	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_423734
SCN5A:1593:I:M	SCN5A	1593	I	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	4.071e-06	1	Congenital long QT syndrome	maf_pathogenic	0.365079365	0.050793651	0	0	VariationID_67922
SCN5A:1593:I:M	SCN5A	1593	I	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.071e-06	2	Long QT syndrome	maf_pathogenic	0.365079365	0.050793651	0	0	19716085
SCN5A:1594:F:S	SCN5A	1594	F	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67923
SCN5A:1594:F:S	SCN5A	1594	F	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:1595:D:H	SCN5A	1595	D	H	ENST00000333535;NM_198056.2	Dilated cardiomyopathy 1E;Primary dilated cardiomyopathy	NA	unknown	clinvar	unknown	Pathogenic	0	1	Dilated cardiomyopathy 1E;Primary dilated cardiomyopathy	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_9406
SCN5A:1595:D:H	SCN5A	1595	D	H	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	0	2	Cardiomyopathy%2C dilated	maf_pathogenic	0.130434783	0.139130435	0	0	15671429,18048769
SCN5A:1595:D:N	SCN5A	1595	D	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Atrioventricular block;Brugada syndrome;Progressive familial heart block type 1A;not provided	maf_pathogenic	0.130434783	0.139130435	1	1	VariationID_9385
SCN5A:1595:D:N	SCN5A	1595	D	N	ENST00000333535;NM_198056.2	Atrioventricular conduction block	NA	unknown	hgmd	unknown	DM	0	2	Atrioventricular conduction block	maf_pathogenic	0.130434783	0.139130435	0	0	11804990
SCN5A:1596:F:I	SCN5A	1596	F	I	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001019	3	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;not specified	unknown	0.161205767	0.004193971	0	0	VariationID_67924
SCN5A:1596:F:I	SCN5A	1596	F	I	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0001019	1	Long QT syndrome	unknown	0.161205767	0.004193971	0	0	19716085,25051102,26213684,27153395,21051419,22685113
SCN5A:1597:V:M	SCN5A	1597	V	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	1.632e-05	1	Congenital long QT syndrome	maf_pathogenic	0.160839161	0.022377622	0	0	VariationID_67925
SCN5A:1597:V:M	SCN5A	1597	V	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.632e-05	2	Long QT syndrome	maf_pathogenic	0.160839161	0.022377622	0	0	19862833,26159999
SCN5A:1601:L:H	SCN5A	1601	L	H	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	0.047619048	0.050793651	0	0	Heyne_etal_bioRxiv2019
SCN5A:1604:V:M	SCN5A	1604	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	2.878e-05	1	Brugada syndrome	maf_pathogenic	0.014778325	0.114285714	0	0	VariationID_67926
SCN5A:1604:V:M	SCN5A	1604	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	2.878e-05	2	Brugada syndrome	maf_pathogenic	0.014778325	0.114285714	0	0	20129283
SCN5A:1605:G:R	SCN5A	1605	G	R	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201593
SCN5A:1609:S:L	SCN5A	1609	S	L	ENST00000333535;NM_198056.2	Sudden infant death syndrome	NA	unknown	hgmd	unknown	DM	1.221e-05	2	Sudden infant death syndrome	maf_pathogenic	0.036144578	0.038554217	0	0	25757662
SCN5A:1609:S:W	SCN5A	1609	S	W	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67929
SCN5A:1609:S:W	SCN5A	1609	S	W	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	16922724
SCN5A:1612:I:N	SCN5A	1612	I	N	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519469
SCN5A:1613:Q:L	SCN5A	1613	Q	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67930
SCN5A:1613:Q:L	SCN5A	1613	Q	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1616:F:Y	SCN5A	1616	F	Y	ENST00000333535;NM_198056.2	Sick sinus syndrome	NA	unknown	hgmd	unknown	DM	0	1	Sick sinus syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	26798387
SCN5A:1620:T:K	SCN5A	1620	T	K	ENST00000333535;NM_198056.2	Cardiac conduction defect, nonspecific	NA	unknown	clinvar	unknown	not provided	0	1	Cardiac conduction defect, nonspecific	maf_pathogenic	0.759036145	0.038554217	0	0	VariationID_67931
SCN5A:1620:T:K	SCN5A	1620	T	K	ENST00000333535;NM_198056.2	Cardiac conduction disease and long QT syndrome	NA	unknown	hgmd	unknown	DM	0	2	Cardiac conduction disease and long QT syndrome	maf_pathogenic	0.759036145	0.038554217	0	0	18065446,21552533
SCN5A:1620:T:M	SCN5A	1620	T	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Pathogenic/Likely pathogenic	4.063e-06	2	Brugada syndrome;Brugada syndrome 1;Brugada syndrome 1	maf_pathogenic	0.094650206	0.506995885	0	0	VariationID_67932
SCN5A:1620:T:M	SCN5A	1620	T	M	ENST00000333535;NM_198056.2	Ventricular fibrillation%2C idiopathic	NA	unknown	hgmd	unknown	DM	4.063e-06	2	Ventricular fibrillation%2C idiopathic	maf_pathogenic	0.094650206	0.506995885	0	0	9521325,11786529,10618304,23785128,11827685,11013131
SCN5A:1623:R:L	SCN5A	1623	R	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.759036145	0.038554217	0	0	VariationID_67933
SCN5A:1623:R:L	SCN5A	1623	R	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.759036145	0.038554217	1	1	10973849
SCN5A:1623:R:Q	SCN5A	1623	R	Q	ENST00000333535;NM_198056.2	Congenital long QT syndrome;Long QT syndrome 3;Long qt syndrome 3/6, digenic	NA	unknown	clinvar	unknown	Pathogenic	0	1	Congenital long QT syndrome;Long QT syndrome 3;Long qt syndrome 3/6, digenic	maf_pathogenic	0.883381924	0.009329446	0	0	VariationID_9376
SCN5A:1623:R:Q	SCN5A	1623	R	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.883381924	0.009329446	1	1	10200053,20090423,9495298,10772658,9506831,15184283,15670972,19167409,24136861
SCN5A:1623:R:Q	SCN5A	1623	R	Q	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	0.883381924	0.009329446	0	0	Heyne_etal_bioRxiv2019
SCN5A:1624:V:I	SCN5A	1624	V	I	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_201521
SCN5A:1626:R:C	SCN5A	1626	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.061e-06	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_406431
SCN5A:1626:R:H	SCN5A	1626	R	H	ENST00000333535;NM_198056.2	Cardiovascular phenotype;Congenital long QT syndrome;not provided	NA	unknown	clinvar	unknown	Pathogenic/Likely pathogenic	4.061e-05	3	Cardiovascular phenotype;Congenital long QT syndrome;not provided	maf_pathogenic	0.151943463	0.01130742	0	0	VariationID_67934
SCN5A:1626:R:H	SCN5A	1626	R	H	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.061e-05	2	Long QT syndrome	maf_pathogenic	0.151943463	0.01130742	0	0	18752142,26159999,22685113,22685113
SCN5A:1626:R:P	SCN5A	1626	R	P	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.682539683	0.050793651	0	0	VariationID_67935
SCN5A:1626:R:P	SCN5A	1626	R	P	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.682539683	0.050793651	0	0	10961955,20090423,27077130,17698727
SCN5A:1629:R:G	SCN5A	1629	R	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67936
SCN5A:1629:R:G	SCN5A	1629	R	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	19843921
SCN5A:1629:R:Q	SCN5A	1629	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Pathogenic	1.218e-05	2	Brugada syndrome;not provided	maf_pathogenic	0.014778325	0.409852217	0	0	VariationID_67937
SCN5A:1629:R:Q	SCN5A	1629	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	1.218e-05	2	Brugada syndrome	maf_pathogenic	0.014778325	0.409852217	0	0	20129283,24167619
SCN5A:1631:G:D	SCN5A	1631	G	D	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.682539683	0.050793651	0	0	VariationID_67938
SCN5A:1631:G:D	SCN5A	1631	G	D	ENST00000333535;NM_198056.2	Long QT syndrome%2C malignant perinatal variant	NA	unknown	hgmd	unknown	DM	0	2	Long QT syndrome%2C malignant perinatal variant	maf_pathogenic	0.682539683	0.050793651	0	0	19808432
SCN5A:1632:R:C	SCN5A	1632	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	4.061e-06	0	Brugada syndrome;not provided	maf_pathogenic	0.036144578	0.520481928	0	0	VariationID_242199
SCN5A:1632:R:C	SCN5A	1632	R	C	ENST00000333535;NM_198056.2	Brugada syndrome%2C atypical	NA	unknown	hgmd	unknown	DM	4.061e-06	1	Brugada syndrome%2C atypical	maf_pathogenic	0.036144578	0.520481928	0	0	26031372,27082542
SCN5A:1632:R:H	SCN5A	1632	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	4.061e-06	0	Brugada syndrome;Cardiac conduction defect, nonspecific;not provided	maf_pathogenic	0.010600707	0.718021201	0	0	VariationID_67939
SCN5A:1632:R:H	SCN5A	1632	R	H	ENST00000333535;NM_198056.2	Nodal rhythm	NA	unknown	hgmd	unknown	DM	4.061e-06	2	Nodal rhythm	maf_pathogenic	0.010600707	0.718021201	0	0	14523039,20384651,20539757
SCN5A:1638:R:P	SCN5A	1638	R	P	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_389150
SCN5A:1642:G:E	SCN5A	1642	G	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome;Cardiovascular phenotype	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67940
SCN5A:1642:G:E	SCN5A	1642	G	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1643:I:L	SCN5A	1643	I	L	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.061e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_234424
SCN5A:1644:R:C	SCN5A	1644	R	C	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	4.061e-06	1	Congenital long QT syndrome	maf_pathogenic	0.234972678	0.563934426	0	0	VariationID_67941
SCN5A:1644:R:C	SCN5A	1644	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.234972678	0.563934426	0	0	16344400,19716085
SCN5A:1644:R:H	SCN5A	1644	R	H	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome 3;not provided	NA	unknown	clinvar	unknown	Pathogenic	0	3	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome 3;not provided	maf_pathogenic	0.66873706	0.048033126	0	0	VariationID_9369
SCN5A:1644:R:H	SCN5A	1644	R	H	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.66873706	0.048033126	0	0	8541846,28412158,8620612,8917568,28341781
SCN5A:1645:T:M	SCN5A	1645	T	M	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome;not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	2.03e-05	0	Brugada syndrome;Congenital long QT syndrome;not provided	maf_pathogenic	0.263803681	0.019631902	0	0	VariationID_67942
SCN5A:1645:T:M	SCN5A	1645	T	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	2.03e-05	2	Long QT syndrome	maf_pathogenic	0.263803681	0.019631902	0	0	10508990
SCN5A:1646:L:R	SCN5A	1646	L	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	NA	NA	1	1	24363352
SCN5A:1647:L:P	SCN5A	1647	L	P	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Uncertain significance	0	1	Long QT syndrome 3	maf_pathogenic	NA	NA	0	0	VariationID_417943
SCN5A:1649:A:V	SCN5A	1649	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67943
SCN5A:1649:A:V	SCN5A	1649	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	17081365,20877689
SCN5A:1650:L:F	SCN5A	1650	L	F	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67944
SCN5A:1650:L:F	SCN5A	1650	L	F	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:1650:L:H	SCN5A	1650	L	H	ENST00000333535;NM_198056.2	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	0	2	Sudden unexplained death	maf_pathogenic	0.130434783	0.139130435	0	0	24631775
SCN5A:1651:M:V	SCN5A	1651	M	V	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201522
SCN5A:1652:M:R	SCN5A	1652	M	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67946
SCN5A:1652:M:R	SCN5A	1652	M	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	17698727
SCN5A:1652:M:T	SCN5A	1652	M	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67945
SCN5A:1652:M:T	SCN5A	1652	M	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:1660:I:V	SCN5A	1660	I	V	ENST00000333535;NM_198056.2	Cardiovascular phenotype;Congenital long QT syndrome;not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	3.248e-05	0	Cardiovascular phenotype;Congenital long QT syndrome;not provided	maf_pathogenic	0.106699752	0.256079404	0	0	VariationID_67947
SCN5A:1660:I:V	SCN5A	1660	I	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	3.248e-05	2	Long QT syndrome	maf_pathogenic	0.106699752	0.256079404	0	0	16414944,17075016,17075016,20812931,24136861
SCN5A:1661:G:R	SCN5A	1661	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.018404908	0.878527607	0	0	VariationID_67948
SCN5A:1661:G:R	SCN5A	1661	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	3	Brugada syndrome;not specified	maf_pathogenic	0.018404908	0.878527607	0	0	VariationID_201523
SCN5A:1661:G:R	SCN5A	1661	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.018404908	0.878527607	1	1	20129283,24136861
SCN5A:1661:G:R	SCN5A	1661	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.018404908	0.878527607	1	1	20129283,24136861
SCN5A:1667:V:I	SCN5A	1667	V	I	ENST00000333535;NM_198056.2	Congenital long QT syndrome;Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	4.061e-06	0	Congenital long QT syndrome;Long QT syndrome;not specified	maf_pathogenic	0.256965944	0.071826625	0	0	VariationID_67949
SCN5A:1667:V:I	SCN5A	1667	V	I	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.061e-06	2	Long QT syndrome	maf_pathogenic	0.256965944	0.071826625	0	0	11274952
SCN5A:1667:V:L	SCN5A	1667	V	L	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201524
SCN5A:1670:I:T	SCN5A	1670	I	T	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_48305
SCN5A:1672:S:Y	SCN5A	1672	S	Y	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.036144578	0.761445783	0	0	VariationID_67951
SCN5A:1672:S:Y	SCN5A	1672	S	Y	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.036144578	0.761445783	1	1	20129283,24136861
SCN5A:1676:M:I	SCN5A	1676	M	I	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.624e-05	2	not specified	maf_pathogenic	0.029126214	0.031067961	0	0	VariationID_379131
SCN5A:1676:M:T	SCN5A	1676	M	T	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	4.061e-06	2	not provided	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_201526
SCN5A:1676:M:V	SCN5A	1676	M	V	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201525
SCN5A:1680:A:T	SCN5A	1680	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	4.467e-05	0	Brugada syndrome;Cardiovascular phenotype;Sudden cardiac death;not specified	maf_pathogenic	0.060052219	0.165013055	0	0	VariationID_67952
SCN5A:1680:A:T	SCN5A	1680	A	T	ENST00000333535;NM_198056.2	Sudden adult death syndrome	NA	unknown	hgmd	unknown	DM	4.467e-05	2	Sudden adult death syndrome	maf_pathogenic	0.060052219	0.165013055	0	0	16712702,23631430
SCN5A:1685:E:D	SCN5A	1685	E	D	ENST00000333535;NM_198056.2	Sudden cardiac death	NA	unknown	hgmd	unknown	DM	0	1	Sudden cardiac death	maf_pathogenic	NA	NA	0	0	25447171
SCN5A:1685:E:V	SCN5A	1685	E	V	ENST00000333535;NM_198056.2	Sudden cardiac death	NA	unknown	hgmd	unknown	DM	0	1	Sudden cardiac death	maf_pathogenic	NA	NA	0	0	25447171
SCN5A:1690:D:N	SCN5A	1690	D	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.061e-06	3	Brugada syndrome;not specified	maf_pathogenic	0.036144578	0.520481928	0	0	VariationID_403420
SCN5A:1690:D:N	SCN5A	1690	D	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.036144578	0.520481928	0	0	23085483,27108952
SCN5A:1690:D:N	SCN5A	1690	D	N	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.061e-06	unknown	DEE	maf_pathogenic	0.036144578	0.520481928	0	0	Heyne_etal_bioRxiv2019
SCN5A:1691:M:T	SCN5A	1691	M	T	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201527
SCN5A:1692:F:S	SCN5A	1692	F	S	ENST00000333535;NM_198056.2	Cardiac arrest	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiac arrest	maf_pathogenic	NA	NA	0	0	VariationID_222813
SCN5A:1698:A:T	SCN5A	1698	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.218e-05	2	Brugada syndrome;not specified	maf_pathogenic	0.029126214	0.225242718	0	0	VariationID_67953
SCN5A:1698:A:T	SCN5A	1698	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	1.218e-05	2	Brugada syndrome	maf_pathogenic	0.029126214	0.225242718	0	0	20129283
SCN5A:1701:M:I	SCN5A	1701	M	I	ENST00000333535;NM_198056.2	Primary dilated cardiomyopathy	NA	unknown	clinvar	unknown	Uncertain significance	8.121e-06	2	Primary dilated cardiomyopathy	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_427788
SCN5A:1703:C:Y	SCN5A	1703	C	Y	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201528
SCN5A:1705:F:S	SCN5A	1705	F	S	ENST00000333535;NM_198056.2	SUDDEN INFANT DEATH SYNDROME	NA	unknown	clinvar	unknown	not provided	0	1	SUDDEN INFANT DEATH SYNDROME	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_67954
SCN5A:1705:F:S	SCN5A	1705	F	S	ENST00000333535;NM_198056.2	Sudden infant death syndrome	NA	unknown	hgmd	unknown	DM	0	2	Sudden infant death syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	18596570
SCN5A:1706:Q:H	SCN5A	1706	Q	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67955
SCN5A:1706:Q:H	SCN5A	1706	Q	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	21321465
SCN5A:1708:T:N	SCN5A	1708	T	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	25904541
SCN5A:1709:T:M	SCN5A	1709	T	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.061e-06	3	Brugada syndrome;Cardiovascular phenotype;not specified	maf_pathogenic	0.223300971	0.419417476	0	0	VariationID_67957
SCN5A:1709:T:M	SCN5A	1709	T	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.223300971	0.419417476	0	0	17697823,27676163,28341781
SCN5A:1709:T:R	SCN5A	1709	T	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67956
SCN5A:1709:T:R	SCN5A	1709	T	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1710:S:L	SCN5A	1710	S	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	1.624e-05	3	Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation 1;Ventricular fibrillation;not provided	maf_pathogenic	0.016393443	0.236065574	1	1	VariationID_9383
SCN5A:1710:S:L	SCN5A	1710	S	L	ENST00000333535;NM_198056.2	Ventricular fibrillation%2C idiopathic	NA	unknown	hgmd	unknown	DM	1.624e-05	2	Ventricular fibrillation%2C idiopathic	maf_pathogenic	0.016393443	0.236065574	0	0	10940383,22247482,11827685
SCN5A:1712:G:S	SCN5A	1712	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	4.061e-06	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67958
SCN5A:1712:G:S	SCN5A	1712	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283,24136861
SCN5A:1714:D:G	SCN5A	1714	D	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Likely pathogenic	0	2	Brugada syndrome;not provided	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67959
SCN5A:1714:D:G	SCN5A	1714	D	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	16266370
SCN5A:1714:D:N	SCN5A	1714	D	N	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201529
SCN5A:1715:G:A	SCN5A	1715	G	A	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201530
SCN5A:1717:L:P	SCN5A	1717	L	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	22840528
SCN5A:1722:N:D	SCN5A	1722	N	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.016393443	0.345355191	0	0	VariationID_67960
SCN5A:1722:N:D	SCN5A	1722	N	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.016393443	0.345355191	0	0	20031634
SCN5A:1723:T:N	SCN5A	1723	T	N	ENST00000333535;NM_198056.2	Congenital long QT syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Congenital long QT syndrome;not provided;not specified	maf_pathogenic	0.365079365	0.050793651	0	0	VariationID_67961
SCN5A:1723:T:N	SCN5A	1723	T	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.365079365	0.050793651	0	0	19716085
SCN5A:1725:P:L	SCN5A	1725	P	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	1.624e-05	1	Congenital long QT syndrome	maf_pathogenic	0.024390244	0.188617886	0	0	VariationID_67962
SCN5A:1725:P:L	SCN5A	1725	P	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.624e-05	2	Long QT syndrome	maf_pathogenic	0.024390244	0.188617886	0	0	19862833
SCN5A:1728:C:R	SCN5A	1728	C	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67963
SCN5A:1728:C:R	SCN5A	1728	C	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1728:C:W	SCN5A	1728	C	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67964
SCN5A:1728:C:W	SCN5A	1728	C	W	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1729:D:N	SCN5A	1729	D	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	8.122e-06	3	Brugada syndrome;not specified	maf_pathogenic	0.029126214	0.031067961	0	0	VariationID_201531
SCN5A:1738:S:F	SCN5A	1738	S	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.061e-06	3	Brugada syndrome;not provided	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_191499
SCN5A:1739:R:Q	SCN5A	1739	R	Q	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Uncertain significance	8.122e-06	2	not provided	maf_pathogenic	0.029126214	0.031067961	0	0	VariationID_191498
SCN5A:1739:R:W	SCN5A	1739	R	W	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome	NA	unknown	clinvar	unknown	Uncertain significance	3.655e-05	2	Brugada syndrome;Congenital long QT syndrome	maf_pathogenic	0.141914191	0.010561056	0	0	VariationID_67965
SCN5A:1739:R:W	SCN5A	1739	R	W	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	3.655e-05	2	Long QT syndrome	maf_pathogenic	0.141914191	0.010561056	0	0	19716085,26332594
SCN5A:1740:G:R	SCN5A	1740	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	VariationID_67966
SCN5A:1740:G:R	SCN5A	1740	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.047619048	0.685714286	0	0	11901046,15057319,24136861
SCN5A:1741:D:Y	SCN5A	1741	D	Y	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_201532
SCN5A:1743:G:E	SCN5A	1743	G	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.013452915	0.911210762	0	0	VariationID_67968
SCN5A:1743:G:E	SCN5A	1743	G	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	0.013452915	0.911210762	1	1	12106943
SCN5A:1743:G:R	SCN5A	1743	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Brugada syndrome;not provided	maf_pathogenic	0.007832898	0.634986945	1	1	VariationID_67967
SCN5A:1743:G:R	SCN5A	1743	G	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	1	Brugada syndrome	maf_pathogenic	0.007832898	0.634986945	0	0	12639704,26111534,22840528,15023552,28341781
SCN5A:1744:S:I	SCN5A	1744	S	I	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	8.122e-06	2	not provided	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_201533
SCN5A:1746:A:T	SCN5A	1746	A	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	4.061e-06	1	Congenital long QT syndrome	maf_pathogenic	0.512195122	0.02601626	0	0	VariationID_67969
SCN5A:1746:A:T	SCN5A	1746	A	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.061e-06	2	Long QT syndrome	maf_pathogenic	0.512195122	0.02601626	0	0	20541041
SCN5A:1746:A:V	SCN5A	1746	A	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	5.685e-05	2	Brugada syndrome	maf_pathogenic	0.009287926	0.009907121	0	0	VariationID_463345
SCN5A:1747:V:M	SCN5A	1747	V	M	ENST00000333535;NM_198056.2	Cardiovascular phenotype;Congenital long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.436e-05	3	Cardiovascular phenotype;Congenital long QT syndrome;not specified	maf_pathogenic	0.12568306	0.017486339	0	0	VariationID_67970
SCN5A:1747:V:M	SCN5A	1747	V	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	2.436e-05	2	Long QT syndrome	maf_pathogenic	0.12568306	0.017486339	0	0	20541041,N/A
SCN5A:1748:G:D	SCN5A	1748	G	D	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	23085483
SCN5A:1754:T:S	SCN5A	1754	T	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_242202
SCN5A:1758:I:V	SCN5A	1758	I	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.069767442	0.074418605	0	0	23158531
SCN5A:1761:L:F	SCN5A	1761	L	F	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67972
SCN5A:1761:L:F	SCN5A	1761	L	F	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:1761:L:H	SCN5A	1761	L	H	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.682539683	0.050793651	0	0	VariationID_67973
SCN5A:1761:L:H	SCN5A	1761	L	H	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.682539683	0.050793651	0	0	19716085
SCN5A:1763:V:L	SCN5A	1763	V	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	NA	NA	1	1	27681629
SCN5A:1763:V:M	SCN5A	1763	V	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Congenital long QT syndrome;not provided	maf_pathogenic	0.877300613	0.019631902	1	1	VariationID_67974
SCN5A:1763:V:M	SCN5A	1763	V	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.877300613	0.019631902	1	1	15485686,23998552
SCN5A:1764:V:F	SCN5A	1764	V	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67976
SCN5A:1764:V:F	SCN5A	1764	V	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	19808440,20129283
SCN5A:1766:M:I	SCN5A	1766	M	I	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	NA	NA	0	0	VariationID_519384
SCN5A:1766:M:K	SCN5A	1766	M	K	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201534
SCN5A:1766:M:L	SCN5A	1766	M	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67977
SCN5A:1766:M:L	SCN5A	1766	M	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Pathogenic	0	2	Long QT syndrome 3	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_446418
SCN5A:1766:M:L	SCN5A	1766	M	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	12123767
SCN5A:1766:M:T	SCN5A	1766	M	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	1.624e-05	2	Brugada syndrome	maf_pathogenic	0.024390244	0.188617886	0	0	24721456
SCN5A:1766:M:V	SCN5A	1766	M	V	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	0.910313901	0.014349776	0	0	VariationID_463347
SCN5A:1766:M:V	SCN5A	1766	M	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.910313901	0.014349776	1	1	23174487
SCN5A:1767:Y:C	SCN5A	1767	Y	C	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.890710383	0.017486339	0	0	VariationID_67979
SCN5A:1767:Y:C	SCN5A	1767	Y	C	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.890710383	0.017486339	1	1	16414944,21076026
SCN5A:1768:I:V	SCN5A	1768	I	V	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;not provided	NA	unknown	clinvar	unknown	Pathogenic	0	3	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;not provided	maf_pathogenic	0.688958009	0.004976672	0	0	VariationID_67980
SCN5A:1768:I:V	SCN5A	1768	I	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.688958009	0.004976672	0	0	12566525,25804018,12650885,22370996,22373669,12209021
SCN5A:1772:L:V	SCN5A	1772	L	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67981
SCN5A:1772:L:V	SCN5A	1772	L	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19996378
SCN5A:1774:N:D	SCN5A	1774	N	D	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67982
SCN5A:1774:N:D	SCN5A	1774	N	D	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19996378,24112685
SCN5A:1774:N:H	SCN5A	1774	N	H	ENST00000333535;NM_198056.2	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	0	1	Sudden unexplained death	maf_pathogenic	0.130434783	0.139130435	0	0	26846766
SCN5A:1774:N:S	SCN5A	1774	N	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_67983
SCN5A:1774:N:S	SCN5A	1774	N	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	16038262
SCN5A:1774:N:Y	SCN5A	1774	N	Y	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_427074
SCN5A:1777:V:M	SCN5A	1777	V	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	Likely pathogenic	1.624e-05	2	Congenital long QT syndrome;not provided	maf_pathogenic	0.222614841	0.01130742	0	0	VariationID_67984
SCN5A:1777:V:M	SCN5A	1777	V	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	1.624e-05	2	Long QT syndrome	maf_pathogenic	0.222614841	0.01130742	0	0	11463728,12085742
SCN5A:1779:T:M	SCN5A	1779	T	M	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.061e-05	3	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;not specified	maf_pathogenic	0.268929504	0.060574413	0	0	VariationID_67985
SCN5A:1779:T:M	SCN5A	1779	T	M	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.061e-05	2	Long QT syndrome	maf_pathogenic	0.268929504	0.060574413	0	0	15840476,25637381,28416588,24055113,22378279,N/A
SCN5A:1779:T:M	SCN5A	1779	T	M	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.061e-05	unknown	DEE	maf_pathogenic	0.268929504	0.060574413	0	0	Heyne_etal_bioRxiv2019
SCN5A:1780:E:G	SCN5A	1780	E	G	ENST00000333535;NM_198056.2	Irritable bowel syndrome	NA	unknown	hgmd	unknown	DM	0	1	Irritable bowel syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	24613995,25650408
SCN5A:1781:E:G	SCN5A	1781	E	G	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.759036145	0.038554217	1	1	23174487
SCN5A:1783:T:S	SCN5A	1783	T	S	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201535
SCN5A:1784:E:K	SCN5A	1784	E	K	ENST00000333535;NM_198056.2	Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome 1;Long QT syndrome 3;Sinus node disease;not provided	NA	unknown	clinvar	unknown	Pathogenic	0	3	Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome 1;Long QT syndrome 3;Sinus node disease;not provided	maf_pathogenic	0.691189827	0.18867696	0	0	VariationID_9377
SCN5A:1784:E:K	SCN5A	1784	E	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.691189827	0.18867696	0	0	10377081,26131924,28412158,10727653,24784157,18451998,18451998,21321465,27677334,28781849,24871449,27381756,27381756
SCN5A:1786:L:Q	SCN5A	1786	L	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.759036145	0.038554217	0	0	VariationID_67987
SCN5A:1786:L:Q	SCN5A	1786	L	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.759036145	0.038554217	0	0	16712702,24599044
SCN5A:1787:S:N	SCN5A	1787	S	N	ENST00000333535;NM_198056.2	Arrhythmogenic right ventricular dysplasia/cardiomyopathy;Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0008852	0	Arrhythmogenic right ventricular dysplasia/cardiomyopathy;Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;not provided;not specified	unknown	0.0091431	0.004933021	0	0	VariationID_67988
SCN5A:1787:S:N	SCN5A	1787	S	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0008852	1	Long QT syndrome	unknown	0.0091431	0.004933021	0	0	10973849,15851227,25637381,24055113,26159999,25923670,20129283,27153395,22378279,28069705,23503384
SCN5A:1787:S:N	SCN5A	1787	S	N	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0008852	unknown	DEE	unknown	0.0091431	0.004933021	0	0	Heyne_etal_bioRxiv2019
SCN5A:1787:S:T	SCN5A	1787	S	T	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_201536
SCN5A:1790:D:G	SCN5A	1790	D	G	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.826652221	0.025135428	0	0	VariationID_67989
SCN5A:1790:D:G	SCN5A	1790	D	G	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.826652221	0.025135428	1	1	9686753,11150514,26304620,20102920
SCN5A:1790:D:N	SCN5A	1790	D	N	ENST00000333535;NM_198056.2	Sick sinus syndrome%2C autosomal recessive	NA	unknown	hgmd	unknown	DM	8.121e-06	2	Sick sinus syndrome%2C autosomal recessive	maf_pathogenic	0.029126214	0.031067961	0	0	23200271
SCN5A:1792:D:N	SCN5A	1792	D	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.436e-05	3	Brugada syndrome;not specified	maf_pathogenic	0.020979021	0.022377622	0	0	VariationID_178858
SCN5A:1792:D:N	SCN5A	1792	D	N	ENST00000333535;NM_198056.2	Cardiac sinus node dysfunction	NA	unknown	hgmd	unknown	DM	2.436e-05	2	Cardiac sinus node dysfunction	maf_pathogenic	0.020979021	0.022377622	0	0	22795782
SCN5A:1793:M:K	SCN5A	1793	M	K	ENST00000333535;NM_198056.2	Cardiovascular phenotype;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	4.061e-06	0	Cardiovascular phenotype;not provided;not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_201537
SCN5A:1795:Y:C	SCN5A	1795	Y	C	ENST00000333535;NM_198056.2	Congenital long QT syndrome;Long QT syndrome 3	NA	unknown	clinvar	unknown	Pathogenic	0	1	Congenital long QT syndrome;Long QT syndrome 3	maf_pathogenic	0.952718676	0.007565012	0	0	VariationID_9375
SCN5A:1795:Y:C	SCN5A	1795	Y	C	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	0.952718676	0.007565012	1	1	11410597,22129298
SCN5A:1795:Y:H	SCN5A	1795	Y	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Pathogenic	0	1	Brugada syndrome;Brugada syndrome 1	maf_pathogenic	0.024390244	0.351219512	0	0	VariationID_9397
SCN5A:1795:Y:H	SCN5A	1795	Y	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.024390244	0.351219512	0	0	11410597
SCN5A:1802:D:G	SCN5A	1802	D	G	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Congenital long QT syndrome;not provided	maf_pathogenic	NA	NA	1	1	VariationID_67990
SCN5A:1808:F:L	SCN5A	1808	F	L	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_496575
SCN5A:1812:S:L	SCN5A	1812	S	L	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.25e-05	2	not specified	maf_pathogenic	0.014778325	0.015763547	0	0	VariationID_201538
SCN5A:1819:D:N	SCN5A	1819	D	N	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 2/3, digenic;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002721	0	Brugada syndrome;Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 2/3, digenic;not specified	unknown	0.015721121	0.002187286	0	0	VariationID_9402
SCN5A:1819:D:N	SCN5A	1819	D	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0002721	2	Long QT syndrome	unknown	0.015721121	0.002187286	0	0	16922724,22685113,22685113
SCN5A:1820:A:T	SCN5A	1820	A	T	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.031e-05	2	not specified	maf_pathogenic	0.024390244	0.02601626	0	0	VariationID_201594
SCN5A:1823:E:K	SCN5A	1823	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	8.123e-06	2	Brugada syndrome	maf_pathogenic	0.024390244	0.02601626	0	0	VariationID_242204
SCN5A:1824:P:A	SCN5A	1824	P	A	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67992
SCN5A:1824:P:A	SCN5A	1824	P	A	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	20541041
SCN5A:1825:L:F	SCN5A	1825	L	F	ENST00000333535;NM_198056.2	Noncompaction%2C left ventricular	NA	unknown	hgmd	unknown	DM	0	1	Noncompaction%2C left ventricular	maf_pathogenic	NA	NA	0	0	28798025
SCN5A:1825:L:P	SCN5A	1825	L	P	ENST00000333535;NM_198056.2	Acquired long QT syndrome	NA	unknown	clinvar	unknown	not provided	0	1	Acquired long QT syndrome	maf_pathogenic	0.682539683	0.050793651	0	0	VariationID_67993
SCN5A:1825:L:P	SCN5A	1825	L	P	ENST00000333535;NM_198056.2	Long QT syndrome%2C drug-associated	NA	unknown	hgmd	unknown	DM	0	2	Long QT syndrome%2C drug-associated	maf_pathogenic	0.682539683	0.050793651	0	0	12208804,19843919
SCN5A:1826:R:C	SCN5A	1826	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	1.219e-05	0	Atrial fibrillation;Brugada syndrome;not provided	maf_pathogenic	0.024390244	0.02601626	0	0	VariationID_67994
SCN5A:1826:R:C	SCN5A	1826	R	C	ENST00000333535;NM_198056.2	Atrial fibrillation	NA	unknown	hgmd	unknown	DM	1.219e-05	1	Atrial fibrillation	maf_pathogenic	0.024390244	0.02601626	0	0	18378609
SCN5A:1826:R:C	SCN5A	1826	R	C	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.219e-05	unknown	DEE	maf_pathogenic	0.024390244	0.02601626	0	0	Heyne_etal_bioRxiv2019
SCN5A:1826:R:H	SCN5A	1826	R	H	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome 3;SUDDEN INFANT DEATH SYNDROME;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	2.844e-05	0	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome 3;SUDDEN INFANT DEATH SYNDROME;not specified	maf_pathogenic	0.133126935	0.009907121	0	0	VariationID_9389
SCN5A:1826:R:H	SCN5A	1826	R	H	ENST00000333535;NM_198056.2	Sudden infant death syndrome	NA	unknown	hgmd	unknown	DM	2.844e-05	2	Sudden infant death syndrome	maf_pathogenic	0.133126935	0.009907121	0	0	11710892,25637381,23465283,24055113,27077130
SCN5A:1826:R:H	SCN5A	1826	R	H	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.844e-05	unknown	DEE	maf_pathogenic	0.133126935	0.009907121	0	0	Heyne_etal_bioRxiv2019
SCN5A:1828:A:T	SCN5A	1828	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.031e-05	3	Brugada syndrome;not specified	maf_pathogenic	0.014778325	0.015763547	0	0	VariationID_201539
SCN5A:1832:Q:E	SCN5A	1832	Q	E	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	5.688e-05	0	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;not specified	maf_pathogenic	0.00466563	0.06718507	0	0	VariationID_48308
SCN5A:1832:Q:E	SCN5A	1832	Q	E	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	5.688e-05	2	Brugada syndrome	maf_pathogenic	0.00466563	0.06718507	0	0	28370132,28370132,25119684,23414114
SCN5A:1832:Q:E	SCN5A	1832	Q	E	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.688e-05	unknown	DEE	maf_pathogenic	0.00466563	0.06718507	0	0	Heyne_etal_bioRxiv2019
SCN5A:1836:I:T	SCN5A	1836	I	T	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Dilated cardiomyopathy 1E;Primary dilated cardiomyopathy;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002113	0	Brugada syndrome;Cardiovascular phenotype;Dilated cardiomyopathy 1E;Primary dilated cardiomyopathy;not provided;not specified	unknown	0.001782531	0.001901367	0	0	VariationID_39445
SCN5A:1836:I:T	SCN5A	1836	I	T	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	0.0002113	2	Cardiomyopathy%2C dilated	unknown	0.001782531	0.001901367	0	0	19412328,25637381,24055113,27896284,26332594
SCN5A:1836:I:T	SCN5A	1836	I	T	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002113	unknown	DEE	unknown	0.001782531	0.001901367	0	0	Heyne_etal_bioRxiv2019
SCN5A:1837:N:K	SCN5A	1837	N	K	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_392829
SCN5A:1839:D:G	SCN5A	1839	D	G	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_67995
SCN5A:1839:D:G	SCN5A	1839	D	G	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	19716085
SCN5A:1842:M:V	SCN5A	1842	M	V	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	4.063e-06	2	Cardiovascular phenotype	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_519298
SCN5A:1847:R:C	SCN5A	1847	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.625e-05	3	Brugada syndrome;not provided;not specified	maf_pathogenic	0.029126214	0.031067961	0	0	VariationID_421845
SCN5A:1847:R:H	SCN5A	1847	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	8.127e-06	3	Brugada syndrome 1;not specified	maf_pathogenic	0.036144578	0.279518072	0	0	VariationID_48309
SCN5A:1847:R:H	SCN5A	1847	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	8.127e-06	2	Brugada syndrome	maf_pathogenic	0.036144578	0.279518072	0	0	23321620
SCN5A:1849:H:R	SCN5A	1849	H	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Brugada syndrome;Cardiovascular phenotype	maf_pathogenic	0.682539683	0.050793651	0	0	VariationID_201540
SCN5A:1849:H:R	SCN5A	1849	H	R	ENST00000333535;NM_198056.2	Arrhythmia	NA	unknown	hgmd	unknown	DM	0	2	Arrhythmia	maf_pathogenic	0.682539683	0.050793651	0	0	26392562
SCN5A:1850:C:S	SCN5A	1850	C	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome;Cardiovascular phenotype	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67997
SCN5A:1850:C:S	SCN5A	1850	C	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	18252757
SCN5A:1851:M:V	SCN5A	1851	M	V	ENST00000333535;NM_198056.2	Ventricular arrhythmias & early onset atrial fibrillation	NA	unknown	hgmd	unknown	DM	0	2	Ventricular arrhythmias & early onset atrial fibrillation	maf_pathogenic	0.069767442	0.074418605	0	0	28262340
SCN5A:1853:I:V	SCN5A	1853	I	V	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Cardiovascular phenotype	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_519340
SCN5A:1860:R:S	SCN5A	1860	R	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Long QT syndrome	maf_pathogenic	NA	NA	1	1	23590259
SCN5A:1861:V:I	SCN5A	1861	V	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_67999
SCN5A:1861:V:I	SCN5A	1861	V	I	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1864:E:D	SCN5A	1864	E	D	ENST00000333535;NM_198056.2	Cardiovascular phenotype;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Cardiovascular phenotype;not specified	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_201541
SCN5A:1870:A:D	SCN5A	1870	A	D	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	0.130434783	0.139130435	0	0	VariationID_179280
SCN5A:1870:A:T	SCN5A	1870	A	T	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	8.122e-06	2	Long QT syndrome	maf_pathogenic	0.277108434	0.038554217	0	0	23631430
SCN5A:1872:K:N	SCN5A	1872	K	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	0	1	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	VariationID_68001
SCN5A:1872:K:N	SCN5A	1872	K	N	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0	2	Brugada syndrome	maf_pathogenic	0.069767442	0.539534884	0	0	20129283
SCN5A:1875:M:T	SCN5A	1875	M	T	ENST00000333535;NM_198056.2	Atrial fibrillation;not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	Atrial fibrillation;not provided	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_68002
SCN5A:1875:M:T	SCN5A	1875	M	T	ENST00000333535;NM_198056.2	Atrial fibrillation	NA	unknown	hgmd	unknown	DM	0	2	Atrial fibrillation	maf_pathogenic	0.069767442	0.074418605	0	0	18929244
SCN5A:1876:E:K	SCN5A	1876	E	K	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201542
SCN5A:1880:M:V	SCN5A	1880	M	V	ENST00000333535;NM_198056.2	Sick sinus syndrome	NA	unknown	hgmd	unknown	DM	0	2	Sick sinus syndrome	maf_pathogenic	0.047619048	0.368253968	0	0	24762805
SCN5A:1884:P:L	SCN5A	1884	P	L	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.903e-05	2	not specified	maf_pathogenic	0.008264463	0.008815427	0	0	VariationID_449118
SCN5A:1887:I:F	SCN5A	1887	I	F	ENST00000333535;NM_198056.2	Cardiomyopathy%2C hypertrophic	NA	unknown	hgmd	unknown	DM	0	2	Cardiomyopathy%2C hypertrophic	maf_pathogenic	NA	NA	0	0	26656175
SCN5A:1889:Y:C	SCN5A	1889	Y	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.843e-05	2	Brugada syndrome	maf_pathogenic	0.016393443	0.017486339	0	0	VariationID_463350
SCN5A:1890:E:K	SCN5A	1890	E	K	ENST00000333535;NM_198056.2	Long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.122e-06	2	Long QT syndrome;not specified	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_375856
SCN5A:1890:E:K	SCN5A	1890	E	K	ENST00000333535;NM_198056.2	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	8.122e-06	2	Sudden unexplained death	maf_pathogenic	0.047619048	0.050793651	0	0	24631775
SCN5A:1891:P:A	SCN5A	1891	P	A	ENST00000333535;NM_198056.2	Left ventricular noncompaction cardiomyopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	1	Left ventricular noncompaction cardiomyopathy	maf_pathogenic	NA	NA	0	0	VariationID_180517
SCN5A:1896:L:V	SCN5A	1896	L	V	ENST00000333535;NM_198056.2	Irritable bowel syndrome	NA	unknown	hgmd	unknown	DM	0	1	Irritable bowel syndrome	maf_pathogenic	0.130434783	0.139130435	0	0	24613995
SCN5A:1897:R:Q	SCN5A	1897	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.624e-05	3	Brugada syndrome;Cardiovascular phenotype	maf_pathogenic	0.141104294	0.019631902	0	0	VariationID_406444
SCN5A:1897:R:W	SCN5A	1897	R	W	ENST00000333535;NM_198056.2	Brugada syndrome;Long QT syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Uncertain significance	9.34e-05	3	Brugada syndrome;Long QT syndrome;not provided;not specified	unknown	0.03814262	0.005306799	0	0	VariationID_68003
SCN5A:1897:R:W	SCN5A	1897	R	W	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	9.34e-05	2	Long QT syndrome	unknown	0.03814262	0.005306799	0	0	19716085,20981092,25637381,22995991,26159999,28074886,22685113,22685113,26332594
SCN5A:1897:R:W	SCN5A	1897	R	W	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	9.34e-05	unknown	DEE	unknown	0.03814262	0.005306799	0	0	Heyne_etal_bioRxiv2019
SCN5A:1898:R:C	SCN5A	1898	R	C	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	3.655e-05	2	Cardiovascular phenotype	maf_pathogenic	0.00990099	0.142574257	0	0	VariationID_518750
SCN5A:1898:R:C	SCN5A	1898	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	3.655e-05	2	Brugada syndrome	maf_pathogenic	0.00990099	0.142574257	0	0	26173111
SCN5A:1898:R:H	SCN5A	1898	R	H	ENST00000333535;NM_198056.2	Arrhythmogenic right ventricular dysplasia/cardiomyopathy;Cardiovascular phenotype;Long QT syndrome 3;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	4.467e-05	0	Arrhythmogenic right ventricular dysplasia/cardiomyopathy;Cardiovascular phenotype;Long QT syndrome 3;not specified	maf_pathogenic	0.010600707	0.01130742	0	0	VariationID_207974
SCN5A:1898:R:H	SCN5A	1898	R	H	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	4.467e-05	1	Cardiomyopathy%2C dilated	maf_pathogenic	0.010600707	0.01130742	0	0	25163546,28069705,28069705
SCN5A:1901:E:K	SCN5A	1901	E	K	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	not provided	2.03e-05	1	not provided	maf_pathogenic	0.020979021	0.022377622	0	0	VariationID_68006
SCN5A:1901:E:Q	SCN5A	1901	E	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	3.655e-05	1	Congenital long QT syndrome	maf_pathogenic	0.094650206	0.013168724	0	0	VariationID_68007
SCN5A:1901:E:Q	SCN5A	1901	E	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	3.655e-05	2	Long QT syndrome	maf_pathogenic	0.094650206	0.013168724	0	0	19716085
SCN5A:1903:V:L	SCN5A	1903	V	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_219835
SCN5A:1904:S:L	SCN5A	1904	S	L	ENST00000333535;NM_198056.2	Brugada syndrome;Cardiovascular phenotype;Death in infancy;Long QT syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001381	0	Brugada syndrome;Cardiovascular phenotype;Death in infancy;Long QT syndrome;not provided;not specified	unknown	0.040451552	0.021825024	0	0	VariationID_48310
SCN5A:1904:S:L	SCN5A	1904	S	L	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0001381	1	Long QT syndrome	unknown	0.040451552	0.021825024	0	0	18708744,25637381,24055113,26159999,22426227,27435932,26332594,22378279
SCN5A:1909:Q:R	SCN5A	1909	Q	R	ENST00000333535;NM_198056.2	Cardiovascular phenotype;Congenital long QT syndrome;not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Cardiovascular phenotype;Congenital long QT syndrome;not provided	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_68008
SCN5A:1909:Q:R	SCN5A	1909	Q	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	15840476,26159999,25757662
SCN5A:1910:R:K	SCN5A	1910	R	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_406439
SCN5A:1913:R:C	SCN5A	1913	R	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.061e-06	1	Brugada syndrome	maf_pathogenic	0.036144578	0.279518072	0	0	28341781
SCN5A:1913:R:H	SCN5A	1913	R	H	ENST00000333535;NM_198056.2	Cardiovascular phenotype;Congenital long QT syndrome;not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.437e-05	3	Cardiovascular phenotype;Congenital long QT syndrome;not specified	maf_pathogenic	0.12568306	0.126775956	0	0	VariationID_68009
SCN5A:1913:R:H	SCN5A	1913	R	H	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	2.437e-05	2	Long QT syndrome	maf_pathogenic	0.12568306	0.126775956	0	0	16414944
SCN5A:1914:R:G	SCN5A	1914	R	G	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	1.218e-05	2	not provided	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_201544
SCN5A:1918:Q:R	SCN5A	1918	Q	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_242205
SCN5A:1919:R:C	SCN5A	1919	R	C	ENST00000333535;NM_198056.2	Cardiovascular phenotype;not provided;not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.031e-05	3	Cardiovascular phenotype;not provided;not specified	maf_pathogenic	0.014778325	0.015763547	0	0	VariationID_68010
SCN5A:1919:R:C	SCN5A	1919	R	C	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.031e-05	unknown	DEE	maf_pathogenic	0.014778325	0.015763547	0	0	Heyne_etal_bioRxiv2019
SCN5A:1924:A:T	SCN5A	1924	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	6.498e-05	0	Brugada syndrome;Brugada syndrome 1;not provided	maf_pathogenic	0.008264463	0.063911846	0	0	VariationID_9381
SCN5A:1924:A:T	SCN5A	1924	A	T	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	6.498e-05	1	Brugada syndrome	maf_pathogenic	0.008264463	0.063911846	0	0	10690282,26111534,23414114
SCN5A:1924:A:T	SCN5A	1924	A	T	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.498e-05	unknown	DEE	maf_pathogenic	0.008264463	0.063911846	0	0	Heyne_etal_bioRxiv2019
SCN5A:1928:F:C	SCN5A	1928	F	C	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_406446
SCN5A:1929:R:H	SCN5A	1929	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	4.063e-05	3	Brugada syndrome;Cardiovascular phenotype;not specified	maf_pathogenic	0.013452915	0.014349776	0	0	VariationID_179372
SCN5A:1934:S:N	SCN5A	1934	S	N	ENST00000333535;NM_198056.2	Primary familial hypertrophic cardiomyopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	1	Primary familial hypertrophic cardiomyopathy	maf_pathogenic	NA	NA	0	0	VariationID_180518
SCN5A:1935:G:S	SCN5A	1935	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	not provided	2.846e-05	1	Brugada syndrome	maf_pathogenic	0.21182266	0.114285714	0	0	VariationID_68011
SCN5A:1935:G:S	SCN5A	1935	G	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	2.846e-05	2	Brugada syndrome	maf_pathogenic	0.21182266	0.114285714	0	0	16267250,27816319
SCN5A:1938:E:K	SCN5A	1938	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.221e-05	2	Brugada syndrome	maf_pathogenic	0.024390244	0.188617886	0	0	VariationID_68012
SCN5A:1938:E:K	SCN5A	1938	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	1.221e-05	2	Brugada syndrome	maf_pathogenic	0.024390244	0.188617886	0	0	20129283,24573164,23853484
SCN5A:1944:R:Q	SCN5A	1944	R	Q	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.224e-05	2	not specified	maf_pathogenic	0.016393443	0.017486339	0	0	VariationID_449098
SCN5A:1947:L:F	SCN5A	1947	L	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_463354
SCN5A:1949:A:P	SCN5A	1949	A	P	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	(Likely)pathogenic	DM	0	2	Brugada syndrome	maf_pathogenic	NA	NA	1	1	19406494
SCN5A:1949:A:S	SCN5A	1949	A	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	VariationID_68013
SCN5A:1949:A:S	SCN5A	1949	A	S	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.534883721	0.074418605	0	0	15840476
SCN5A:1949:A:T	SCN5A	1949	A	T	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.276e-05	2	not specified	maf_pathogenic	0.016393443	0.017486339	0	0	VariationID_201545
SCN5A:1949:A:T	SCN5A	1949	A	T	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.276e-05	unknown	DEE	maf_pathogenic	0.016393443	0.017486339	0	0	Heyne_etal_bioRxiv2019
SCN5A:1950:Y:C	SCN5A	1950	Y	C	ENST00000333535;NM_198056.2	Brugada syndrome;Hypertrophic cardiomyopathy	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Brugada syndrome;Hypertrophic cardiomyopathy	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_216841
SCN5A:1951:V:L	SCN5A	1951	V	L	ENST00000333535;NM_198056.2	Atrial fibrillation;Brugada syndrome;Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Pulmonary valve stenosis (rare);Ventricular tachycardia;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.006681	0	Atrial fibrillation;Brugada syndrome;Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Pulmonary valve stenosis (rare);Ventricular tachycardia;not provided;not specified	unknown	0.002272541	0.001182816	0	0	VariationID_36765
SCN5A:1951:V:L	SCN5A	1951	V	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0.006681	1	Brugada syndrome	unknown	0.002272541	0.001182816	0	0	11901046,15851227,25637381,23465283,22995991,24055113,27711072,20129283,27153395,22378279,23414114,21109022,15992732,17210841
SCN5A:1951:V:L	SCN5A	1951	V	L	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.006681	unknown	DEE	unknown	0.002272541	0.001182816	0	0	Heyne_etal_bioRxiv2019
SCN5A:1951:V:M	SCN5A	1951	V	M	ENST00000333535;NM_198056.2	Atrial fibrillation;Cardiovascular phenotype;Long QT syndrome 2;not provided	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	9.844e-05	0	Atrial fibrillation;Cardiovascular phenotype;Long QT syndrome 2;not provided	unknown	0.005145798	0.039794168	0	0	VariationID_68014
SCN5A:1951:V:M	SCN5A	1951	V	M	ENST00000333535;NM_198056.2	Atrial fibrillation	NA	unknown	hgmd	unknown	DM	9.844e-05	2	Atrial fibrillation	unknown	0.005145798	0.039794168	0	0	18378609,21321465,22685113,22685113,28202948
SCN5A:1954:E:K	SCN5A	1954	E	K	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.877e-05	3	Brugada syndrome;Cardiovascular phenotype;not specified	maf_pathogenic	0.063360882	0.008815427	0	0	VariationID_48312
SCN5A:1954:E:K	SCN5A	1954	E	K	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	2.877e-05	2	Long QT syndrome	maf_pathogenic	0.063360882	0.008815427	0	0	23631430
SCN5A:1958:R:Q	SCN5A	1958	R	Q	ENST00000333535;NM_198056.2	Brugada syndrome;Long QT syndrome;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	7.449e-05	0	Brugada syndrome;Long QT syndrome;not provided;not specified	unknown	0.03814262	0.005306799	0	0	VariationID_68015
SCN5A:1958:R:Q	SCN5A	1958	R	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	7.449e-05	1	Long QT syndrome	unknown	0.03814262	0.005306799	0	0	15840476,25637381,20129283,22378279
SCN5A:1962:P:L	SCN5A	1962	P	L	ENST00000333535;NM_198056.2	Cardiovascular phenotype;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001862	0	Cardiovascular phenotype;not provided;not specified	unknown	0.003115265	0.003322949	0	0	VariationID_48313
SCN5A:1962:P:L	SCN5A	1962	P	L	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001862	unknown	DEE	unknown	0.003115265	0.003322949	0	0	Heyne_etal_bioRxiv2019
SCN5A:1963:P:L	SCN5A	1963	P	L	ENST00000333535;NM_198056.2	Cardiovascular phenotype	NA	unknown	clinvar	unknown	Uncertain significance	8.275e-06	2	Cardiovascular phenotype	maf_pathogenic	0.047619048	0.050793651	0	0	VariationID_519282
SCN5A:1964:S:F	SCN5A	1964	S	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	5.372e-05	2	Brugada syndrome	maf_pathogenic	0.00990099	0.076567657	0	0	VariationID_68016
SCN5A:1964:S:F	SCN5A	1964	S	F	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	5.372e-05	1	Brugada syndrome	maf_pathogenic	0.00990099	0.076567657	0	0	21126620,26656175
SCN5A:1968:I:M	SCN5A	1968	I	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	2.9e-05	3	Brugada syndrome;not provided;not specified	maf_pathogenic	0.007832898	0.008355091	0	0	VariationID_68018
SCN5A:1968:I:S	SCN5A	1968	I	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	1.244e-05	1	Brugada syndrome	maf_pathogenic	0.029126214	0.225242718	0	0	VariationID_68017
SCN5A:1968:I:S	SCN5A	1968	I	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	1.244e-05	1	Brugada syndrome	maf_pathogenic	0.029126214	0.225242718	0	0	16344400,25637381,24055113,23414114
SCN5A:1973:F:S	SCN5A	1973	F	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	NA	NA	0	0	VariationID_406422
SCN5A:1977:Y:N	SCN5A	1977	Y	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	0	1	Congenital long QT syndrome	maf_pathogenic	0.682539683	0.050793651	0	0	VariationID_68019
SCN5A:1977:Y:N	SCN5A	1977	Y	N	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.682539683	0.050793651	0	0	19716085
SCN5A:1979:S:C	SCN5A	1979	S	C	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	0	VariationID_201548
SCN5A:1980:V:F	SCN5A	1980	V	F	ENST00000333535;NM_198056.2	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	1.698e-05	2	not provided	maf_pathogenic	0.029126214	0.031067961	0	0	VariationID_520462
SCN5A:1982:R:I	SCN5A	1982	R	I	ENST00000333535;NM_198056.2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	maf_pathogenic	NA	NA	0	0	VariationID_345113
SCN5A:1983:A:G	SCN5A	1983	A	G	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome	maf_pathogenic	0.277108434	0.038554217	0	0	VariationID_463356
SCN5A:1983:A:G	SCN5A	1983	A	G	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	0.277108434	0.038554217	0	0	Heyne_etal_bioRxiv2019
SCN5A:1987:N:K	SCN5A	1987	N	K	ENST00000333535;NM_198056.2	Atrial fibrillation;Atrial fibrillation;Atrial fibrillation, familial, 10;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	8.946e-06	0	Atrial fibrillation;Atrial fibrillation;Atrial fibrillation, familial, 10;not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_30045
SCN5A:1987:N:K	SCN5A	1987	N	K	ENST00000333535;NM_198056.2	Atrial fibrillation	NA	unknown	hgmd	unknown	DM	8.946e-06	2	Atrial fibrillation	maf_pathogenic	0.069767442	0.074418605	0	0	18088563,25637381
SCN5A:1988:L:R	SCN5A	1988	L	R	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Likely benign	0.0002388	3	Brugada syndrome;not provided;not specified	unknown	0.020122485	0.020297463	0	0	VariationID_68020
SCN5A:1988:L:R	SCN5A	1988	L	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.0002388	2	Long QT syndrome	unknown	0.020122485	0.020297463	0	0	24363352
SCN5A:1991:R:Q	SCN5A	1991	R	Q	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	0	3	Brugada syndrome;not provided;not specified	maf_pathogenic	0.277108434	0.038554217	0	0	VariationID_68021
SCN5A:1991:R:Q	SCN5A	1991	R	Q	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0	2	Long QT syndrome	maf_pathogenic	0.277108434	0.038554217	0	0	20129283,26332594
SCN5A:1991:R:W	SCN5A	1991	R	W	ENST00000333535;NM_198056.2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	NA	unknown	clinvar	unknown	Uncertain significance	1.392e-05	2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	maf_pathogenic	0.036144578	0.038554217	0	0	VariationID_345112
SCN5A:2002:A:T	SCN5A	2002	A	T	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.596e-05	3	not specified	maf_pathogenic	0.020979021	0.022377622	0	0	VariationID_229236
SCN5A:2003:D:N	SCN5A	2003	D	N	ENST00000333535;NM_198056.2	Sudden unexplained death	NA	unknown	hgmd	unknown	DM	1.565e-05	2	Sudden unexplained death	maf_pathogenic	0.036144578	0.038554217	0	0	26164358
SCN5A:2004:F:L	SCN5A	2004	F	L	ENST00000333535;NM_198056.2	Brugada syndrome;Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;Long QT syndrome;Long QT syndrome 3;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.001952	3	Brugada syndrome;Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;Long QT syndrome;Long QT syndrome 3;not provided;not specified	unknown	0.005386446	0.007916823	0	0	VariationID_48315
SCN5A:2004:F:L	SCN5A	2004	F	L	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	0.001952	1	Brugada syndrome	unknown	0.005386446	0.007916823	0	0	18456723,15851227,23465283,28359509,17605181,27711072,20129283,22685113,23414114,17210841
SCN5A:2004:F:L	SCN5A	2004	F	L	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001952	unknown	DEE	unknown	0.005386446	0.007916823	0	0	Heyne_etal_bioRxiv2019
SCN5A:2004:F:S	SCN5A	2004	F	S	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Brugada syndrome;not specified	maf_pathogenic	NA	NA	0	0	VariationID_201425
SCN5A:2004:F:V	SCN5A	2004	F	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	3.625e-05	1	Congenital long QT syndrome	maf_pathogenic	0.113300493	0.114285714	0	0	VariationID_68022
SCN5A:2004:F:V	SCN5A	2004	F	V	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	3.625e-05	2	Long QT syndrome	maf_pathogenic	0.113300493	0.114285714	0	0	19716085,23382499
SCN5A:2005:P:A	SCN5A	2005	P	A	ENST00000333535;NM_198056.2	Primary dilated cardiomyopathy	NA	unknown	clinvar	unknown	not provided	0	1	Primary dilated cardiomyopathy	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_68023
SCN5A:2005:P:A	SCN5A	2005	P	A	ENST00000333535;NM_198056.2	Cardiomyopathy%2C dilated	NA	unknown	hgmd	unknown	DM	0	1	Cardiomyopathy%2C dilated	maf_pathogenic	0.069767442	0.074418605	0	0	19412328,23299917,26412604
SCN5A:2005:P:L	SCN5A	2005	P	L	ENST00000333535;NM_198056.2	not specified	NA	unknown	clinvar	unknown	Likely benign	5.172e-06	2	not specified	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_201426
SCN5A:2006:P:A	SCN5A	2006	P	A	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Likely benign	0.001111	3	Brugada syndrome;Cardiovascular phenotype;not provided;not specified	unknown	0.029946721	0.004262355	0	0	VariationID_68024
SCN5A:2006:P:A	SCN5A	2006	P	A	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	0.001111	1	Long QT syndrome	unknown	0.029946721	0.004262355	0	0	10961955,15851227,23465283,26159999,20129283,19597050,23631430,27153395,28798025,21410720,22378279,21109022,21070882,17210841
SCN5A:2006:P:A	SCN5A	2006	P	A	ENST00000333535;NM_198056.2	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001111	unknown	DEE	unknown	0.029946721	0.004262355	0	0	Heyne_etal_bioRxiv2019
SCN5A:2006:P:L	SCN5A	2006	P	L	ENST00000333535;NM_198056.2	not provided;not specified	NA	unknown	clinvar	unknown	Likely benign	0	2	not provided;not specified	maf_pathogenic	NA	NA	0	0	VariationID_68026
SCN5A:2006:P:R	SCN5A	2006	P	R	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	clinvar	unknown	not provided	5.203e-06	1	Congenital long QT syndrome	maf_pathogenic	0.069767442	0.074418605	0	0	VariationID_68025
SCN5A:2011:D:E	SCN5A	2011	D	E	ENST00000333535;NM_198056.2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	maf_pathogenic	NA	NA	0	0	VariationID_345111
SCN5A:2012:R:C	SCN5A	2012	R	C	ENST00000333535;NM_198056.2	Brugada syndrome;Congenital long QT syndrome;Long QT syndrome 3	NA	unknown	clinvar	unknown	Uncertain significance	4.33e-05	3	Brugada syndrome;Congenital long QT syndrome;Long QT syndrome 3	maf_pathogenic	0.103139013	0.014349776	0	0	VariationID_68027
SCN5A:2012:R:C	SCN5A	2012	R	C	ENST00000333535;NM_198056.2	longQT_syndrome	NA	gof	hgmd	unknown	DM	4.33e-05	2	Long QT syndrome	maf_pathogenic	0.103139013	0.014349776	0	0	19716085
SCN5A:2012:R:H	SCN5A	2012	R	H	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	4.33e-05	2	Brugada syndrome	maf_pathogenic	0.013452915	0.104035874	0	0	27287068
SCN5A:2016:V:M	SCN5A	2016	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	clinvar	unknown	Uncertain significance	3.349e-05	2	Brugada syndrome	maf_pathogenic	0.014778325	0.114285714	0	0	VariationID_201549
SCN5A:2016:V:M	SCN5A	2016	V	M	ENST00000333535;NM_198056.2	brugada_syndrome	NA	lof	hgmd	unknown	DM	3.349e-05	2	Brugada syndrome	maf_pathogenic	0.014778325	0.114285714	0	0	24895455,26282245,26282245,27650965,28069705
SCN7A:101:L:M	SCN7A	101	L	M	ENST00000409855;NM_002976.3	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003986	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN7A:562:Y:C	SCN7A	562	Y	C	ENST00000409855;NM_002976.3	not provided	NA	unknown	clinvar	unknown	Benign	0.007397	2	not provided	unknown	NA	NA	0	0	VariationID_445875
SCN7A:683:R:Q	SCN7A	683	R	Q	ENST00000409855;NM_002976.3	not specified	NA	unknown	clinvar	unknown	Benign	0.005401	2	not specified	unknown	NA	NA	0	0	VariationID_94088
SCN8A:3:A:V	SCN8A	3	A	V	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	2.052e-05	2	Early infantile epileptic encephalopathy	unknown	NA	NA	0	0	VariationID_461351
SCN8A:4:R:Q	SCN8A	4	R	Q	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.196e-06	2	not specified	unknown	NA	NA	0	0	VariationID_449257
SCN8A:25:I:T	SCN8A	25	I	T	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	8.142e-06	2	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	unknown	NA	NA	0	0	VariationID_309348
SCN8A:32:S:N	SCN8A	32	S	N	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	9.764e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:44:H:R	SCN8A	44	H	R	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:45:R:Q	SCN8A	45	R	Q	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.13e-06	2	not specified	unknown	NA	NA	0	0	VariationID_207137
SCN8A:45:R:Q	SCN8A	45	R	Q	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	8.13e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:48:D:N	SCN8A	48	D	N	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.064e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_426406
SCN8A:53:P:R	SCN8A	53	P	R	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_392945
SCN8A:58:D:N	SCN8A	58	D	N	ENST00000354534;NM_014191.3	Intellectual disability and epilepsy	NA	unknown	hgmd	unknown	DM	0	1	Intellectual disability and epilepsy	maf_pathogenic	NA	NA	0	0	25725044
SCN8A:68:I:V	SCN8A	68	I	V	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Likely benign	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_212135
SCN8A:70:G:R	SCN8A	70	G	R	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_452224
SCN8A:70:G:R	SCN8A	70	G	R	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:99:R:S	SCN8A	99	R	S	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:101:K:R	SCN8A	101	K	R	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.069e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_196461
SCN8A:101:K:R	SCN8A	101	K	R	ENST00000354534;NM_014191.3	Epilepsy	NA	unknown	hgmd	unknown	DM	4.069e-06	1	Epilepsy	maf_pathogenic	NA	NA	0	0	27875746
SCN8A:111:A:T	SCN8A	111	A	T	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207138
SCN8A:114:I:V	SCN8A	114	I	V	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	2.034e-05	2	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	unknown	NA	NA	0	0	VariationID_309349
SCN8A:114:I:V	SCN8A	114	I	V	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	2.034e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:136:M:V	SCN8A	136	M	V	ENST00000354534;NM_014191.3	Neuralgia%2C trigeminal	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Neuralgia%2C trigeminal	maf_pathogenic	NA	NA	0	1	27496104,27496104
SCN8A:153:N:H	SCN8A	153	N	H	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.142e-06	2	not specified	unknown	NA	NA	0	0	VariationID_207139
SCN8A:164:T:M	SCN8A	164	T	M	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.44e-05	2	not specified	unknown	NA	NA	0	0	VariationID_197801
SCN8A:166:T:I	SCN8A	166	T	I	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_378553
SCN8A:184:I:V	SCN8A	184	I	V	ENST00000354534;NM_014191.3	not provided;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not provided;not specified	maf_pathogenic	NA	NA	0	0	VariationID_419047
SCN8A:202:I:N	SCN8A	202	I	N	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_284746
SCN8A:205:A:E	SCN8A	205	A	E	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207140
SCN8A:207:I:V	SCN8A	207	I	V	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.44e-05	2	not specified	unknown	NA	NA	0	0	VariationID_207145
SCN8A:210:F:L	SCN8A	210	F	L	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	25818041
SCN8A:210:F:S	SCN8A	210	F	S	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253275
SCN8A:211:V:A	SCN8A	211	V	A	ENST00000354534;NM_014191.3	not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	not provided;not specified	maf_pathogenic	NA	NA	0	0	VariationID_373565
SCN8A:214:G:D	SCN8A	214	G	D	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253276
SCN8A:214:G:D	SCN8A	214	G	D	ENST00000354534;NM_014191.3	Infantile spasms	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Infantile spasms	maf_pathogenic	NA	NA	0	1	23934111,28628100
SCN8A:214:G:D	SCN8A	214	G	D	ENST00000354534;NM_014191.3	EE_E	NA	gof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	1	1	29942082
SCN8A:214:G:D	SCN8A	214	G	D	ENST00000354534;NM_014191.3	ID_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ID_E	maf_pathogenic	NA	NA	0	1	29942082
SCN8A:215:N:D	SCN8A	215	N	D	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253277
SCN8A:215:N:D	SCN8A	215	N	D	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	25568300
SCN8A:215:N:D	SCN8A	215	N	D	ENST00000354534;NM_014191.3	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN8A:216:V:A	SCN8A	216	V	A	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Likely benign	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461348
SCN8A:216:V:D	SCN8A	216	V	D	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253278
SCN8A:216:V:D	SCN8A	216	V	D	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C infantile	maf_pathogenic	NA	NA	1	1	24888894
SCN8A:216:V:G	SCN8A	216	V	G	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Likely pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_374298
SCN8A:216:V:G	SCN8A	216	V	G	ENST00000354534;NM_014191.3	Cognitive impairment	NA	unknown	hgmd	unknown	DM	0	1	Cognitive impairment	maf_pathogenic	NA	NA	0	0	27959697
SCN8A:217:S:P	SCN8A	217	S	P	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_420809
SCN8A:223:R:G	SCN8A	223	R	G	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_162015
SCN8A:223:R:G	SCN8A	223	R	G	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	25239001
SCN8A:232:S:P	SCN8A	232	S	P	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	27779742
SCN8A:239:T:S	SCN8A	239	T	S	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset	maf_pathogenic	NA	NA	1	1	27781031
SCN8A:240:I:L	SCN8A	240	I	L	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_419511
SCN8A:240:I:L	SCN8A	240	I	L	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:240:I:V	SCN8A	240	I	V	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_419568
SCN8A:240:I:V	SCN8A	240	I	V	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	27659738
SCN8A:254:V:M	SCN8A	254	V	M	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_373224
SCN8A:257:L:V	SCN8A	257	L	V	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_420906
SCN8A:260:F:S	SCN8A	260	F	S	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253279
SCN8A:260:F:S	SCN8A	260	F	S	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	25568300,26252990
SCN8A:267:L:S	SCN8A	267	L	S	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Developmental regression;Developmental stagnation at onset of seizures;Epileptic encephalopathy;Generalized tonic seizures;Global developmental delay;Intellectual disability, severe	maf_pathogenic	NA	NA	0	0	VariationID_236207
SCN8A:267:L:S	SCN8A	267	L	S	ENST00000354534;NM_014191.3	Seizures & developmental delay	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Seizures & developmental delay	maf_pathogenic	NA	NA	0	1	N/A
SCN8A:268:I:L	SCN8A	268	I	L	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_427189
SCN8A:273:F:L	SCN8A	273	F	L	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207141
SCN8A:286:I:V	SCN8A	286	I	V	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:307:N:S	SCN8A	307	N	S	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_375541
SCN8A:327:S:R	SCN8A	327	S	R	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:367:M:I	SCN8A	367	M	I	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461331
SCN8A:367:M:V	SCN8A	367	M	V	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207105
SCN8A:374:N:K	SCN8A	374	N	K	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:399:S:P	SCN8A	399	S	P	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:407:L:F	SCN8A	407	L	F	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253280
SCN8A:407:L:F	SCN8A	407	L	F	ENST00000354534;NM_014191.3	Intellectual disability and epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intellectual disability and epilepsy	maf_pathogenic	NA	NA	0	1	25785782
SCN8A:407:L:M	SCN8A	407	L	M	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_432103
SCN8A:408:A:T	SCN8A	408	A	T	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early infantile with movement disorder	maf_pathogenic	NA	NA	1	1	26993267
SCN8A:408:A:T	SCN8A	408	A	T	ENST00000354534;NM_014191.3	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN8A:410:V:L	SCN8A	410	V	L	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253281
SCN8A:410:V:L	SCN8A	410	V	L	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	25568300
SCN8A:410:V:L	SCN8A	410	V	L	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:414:Y:F	SCN8A	414	Y	F	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_193705
SCN8A:416:E:K	SCN8A	416	E	K	ENST00000354534;NM_014191.3	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN8A:417:Q:P	SCN8A	417	Q	P	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Early infantile epileptic encephalopathy;Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_240884
SCN8A:475:R:Q	SCN8A	475	R	Q	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Likely benign	4.354e-05	3	not specified	unknown	NA	NA	0	0	VariationID_167654
SCN8A:475:R:Q	SCN8A	475	R	Q	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	4.354e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:476:S:R	SCN8A	476	S	R	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_406254
SCN8A:482:K:R	SCN8A	482	K	R	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_381058
SCN8A:492:R:C	SCN8A	492	R	C	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	4.263e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:514:K:R	SCN8A	514	K	R	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:524:M:V	SCN8A	524	M	V	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_284698
SCN8A:530:R:W	SCN8A	530	R	W	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Conflicting interpretations of pathogenicity	1.758e-05	1	Early infantile epileptic encephalopathy 13;not provided	unknown	NA	NA	0	0	VariationID_253282
SCN8A:530:R:W	SCN8A	530	R	W	ENST00000354534;NM_014191.3	Rett syndrome features	NA	unknown	hgmd	unknown	DM	1.758e-05	2	Rett syndrome features	unknown	NA	NA	0	0	25914188
SCN8A:538:R:K	SCN8A	538	R	K	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_373646
SCN8A:569:R:S	SCN8A	569	R	S	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.644e-05	2	not specified	unknown	NA	NA	0	0	VariationID_207107
SCN8A:572:G:E	SCN8A	572	G	E	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_426950
SCN8A:593:E:D	SCN8A	593	E	D	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Conflicting interpretations of pathogenicity	2.448e-05	0	Early infantile epileptic encephalopathy;not specified	unknown	NA	NA	0	0	VariationID_379563
SCN8A:593:E:D	SCN8A	593	E	D	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	2.448e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:597:R:H	SCN8A	597	R	H	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	3.051e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:598:R:W	SCN8A	598	R	W	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_423314
SCN8A:604:P:S	SCN8A	604	P	S	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:607:A:T	SCN8A	607	A	T	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.000131	0	Early infantile epileptic encephalopathy;not specified	unknown	NA	NA	0	0	VariationID_194088
SCN8A:607:A:T	SCN8A	607	A	T	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0.000131	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:613:S:G	SCN8A	613	S	G	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	8.77e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:627:S:L	SCN8A	627	S	L	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Likely benign	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_436671
SCN8A:639:R:C	SCN8A	639	R	C	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	8.514e-06	2	Early infantile epileptic encephalopathy	unknown	NA	NA	0	0	VariationID_461334
SCN8A:642:T:M	SCN8A	642	T	M	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:654:G:S	SCN8A	654	G	S	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_450870
SCN8A:656:G:S	SCN8A	656	G	S	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	2.595e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:662:R:C	SCN8A	662	R	C	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207108
SCN8A:662:R:C	SCN8A	662	R	C	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:668:T:A	SCN8A	668	T	A	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	unknown	Uncertain significance	1.882e-05	1	not provided	unknown	NA	NA	0	0	VariationID_493118
SCN8A:668:T:I	SCN8A	668	T	I	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	9.246e-06	1	Early infantile epileptic encephalopathy 13	unknown	NA	NA	0	0	VariationID_253283
SCN8A:668:T:I	SCN8A	668	T	I	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	unknown	DM	9.246e-06	1	Epileptic encephalopathy	unknown	NA	NA	0	0	25849321
SCN8A:685:M:V	SCN8A	685	M	V	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:686:D:N	SCN8A	686	D	N	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	3.269e-05	2	Early infantile epileptic encephalopathy	unknown	NA	NA	0	0	VariationID_406259
SCN8A:686:D:N	SCN8A	686	D	N	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	3.269e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:700:I:L	SCN8A	700	I	L	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Benign/Likely benign	0.003112	3	Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Early infantile epileptic encephalopathy;not provided;not specified	unknown	NA	NA	0	0	VariationID_139069
SCN8A:748:L:F	SCN8A	748	L	F	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:763:I:V	SCN8A	763	I	V	ENST00000354534;NM_014191.3	SCN8A-related disorder;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	SCN8A-related disorder;not provided;not specified	maf_pathogenic	NA	NA	0	0	VariationID_194402
SCN8A:763:I:V	SCN8A	763	I	V	ENST00000354534;NM_014191.3	Epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy	maf_pathogenic	NA	NA	0	1	27875746
SCN8A:767:T:I	SCN8A	767	T	I	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_208500
SCN8A:767:T:I	SCN8A	767	T	I	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	24874546
SCN8A:767:T:I	SCN8A	767	T	I	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:787:V:I	SCN8A	787	V	I	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:796:F:S	SCN8A	796	F	S	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_451563
SCN8A:811:Y:C	SCN8A	811	Y	C	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	0	2	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	maf_pathogenic	NA	NA	0	0	VariationID_309354
SCN8A:836:D:N	SCN8A	836	D	N	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:840:L:R	SCN8A	840	L	R	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_240885
SCN8A:841:S:P	SCN8A	841	S	P	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:842:V:E	SCN8A	842	V	E	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_427069
SCN8A:845:S:F	SCN8A	845	S	F	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207109
SCN8A:845:S:P	SCN8A	845	S	P	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_373333
SCN8A:846:F:S	SCN8A	846	F	S	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253284
SCN8A:846:F:S	SCN8A	846	F	S	ENST00000354534;NM_014191.3	Migrating partial seizures of infancy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Migrating partial seizures of infancy	maf_pathogenic	NA	NA	0	1	24888894
SCN8A:848:L:W	SCN8A	848	L	W	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_287663
SCN8A:850:R:Q	SCN8A	850	R	Q	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Early infantile epileptic encephalopathy 13;Inborn genetic diseases;not provided	maf_pathogenic	NA	NA	1	1	VariationID_135651
SCN8A:850:R:Q	SCN8A	850	R	Q	ENST00000354534;NM_014191.3	Intellectual disability and epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intellectual disability and epilepsy	maf_pathogenic	NA	NA	0	1	25785782,27779742
SCN8A:850:R:Q	SCN8A	850	R	Q	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:868:I:T	SCN8A	868	I	T	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	1	1	VariationID_436672
SCN8A:874:A:S	SCN8A	874	A	S	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_393169
SCN8A:874:A:T	SCN8A	874	A	T	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	1	1	VariationID_495260
SCN8A:875:L:Q	SCN8A	875	L	Q	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253285
SCN8A:875:L:Q	SCN8A	875	L	Q	ENST00000354534;NM_014191.3	Lennox-Gastaut syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Lennox-Gastaut syndrome	maf_pathogenic	NA	NA	0	1	23934111
SCN8A:875:L:Q	SCN8A	875	L	Q	ENST00000354534;NM_014191.3	EE_E	NA	gof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	1	1	29942082
SCN8A:876:G:V	SCN8A	876	G	V	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Likely benign	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_406256
SCN8A:881:V:A	SCN8A	881	V	A	ENST00000354534;NM_014191.3	Abnormality of the nervous system	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Abnormality of the nervous system	maf_pathogenic	NA	NA	0	1	26633542
SCN8A:890:A:T	SCN8A	890	A	T	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253286
SCN8A:890:A:T	SCN8A	890	A	T	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	25568300,25785782
SCN8A:890:A:T	SCN8A	890	A	T	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:891:V:M	SCN8A	891	V	M	ENST00000354534;NM_014191.3	Epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy	maf_pathogenic	NA	NA	0	1	28923014
SCN8A:892:V:G	SCN8A	892	V	G	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_217880
SCN8A:936:E:K	SCN8A	936	E	K	ENST00000354534;NM_014191.3	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	0	VariationID_520968
SCN8A:960:V:D	SCN8A	960	V	D	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253287
SCN8A:960:V:D	SCN8A	960	V	D	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	25568300
SCN8A:964:G:R	SCN8A	964	G	R	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_383545
SCN8A:964:G:R	SCN8A	964	G	R	ENST00000354534;NM_014191.3	Intellectual disability	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intellectual disability	maf_pathogenic	NA	NA	0	1	28702509
SCN8A:978:S:G	SCN8A	978	S	G	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	VariationID_375522
SCN8A:978:S:G	SCN8A	978	S	G	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C infantile	maf_pathogenic	NA	NA	1	1	27864847
SCN8A:979:S:F	SCN8A	979	S	F	ENST00000354534;NM_014191.3	Inborn genetic diseases	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	1	VariationID_521297
SCN8A:984:N:K	SCN8A	984	N	K	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_192317
SCN8A:984:N:K	SCN8A	984	N	K	ENST00000354534;NM_014191.3	Intellectual disability and epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intellectual disability and epilepsy	maf_pathogenic	NA	NA	0	1	25725044,26252990
SCN8A:1003:R:H	SCN8A	1003	R	H	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	4.069e-06	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_406258
SCN8A:1020:Q:H	SCN8A	1020	Q	H	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	0	2	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	maf_pathogenic	NA	NA	0	0	VariationID_309358
SCN8A:1026:R:C	SCN8A	1026	R	C	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Benign/Likely benign	0.01177	3	Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Early infantile epileptic encephalopathy;not specified	unknown	NA	NA	0	0	VariationID_130244
SCN8A:1027:E:K	SCN8A	1027	E	K	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1031:V:A	SCN8A	1031	V	A	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_391947
SCN8A:1050:G:S	SCN8A	1050	G	S	ENST00000354534;NM_014191.3	not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	7.764e-05	0	not provided;not specified	unknown	NA	NA	0	0	VariationID_207142
SCN8A:1050:G:S	SCN8A	1050	G	S	ENST00000354534;NM_014191.3	Cerebral palsy	NA	unknown	hgmd	unknown	DM	7.764e-05	2	Cerebral palsy	unknown	NA	NA	0	0	25666757
SCN8A:1050:G:S	SCN8A	1050	G	S	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	7.764e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1053:I:S	SCN8A	1053	I	S	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	6.134e-05	3	Early Infantile Epileptic Encephalopathy, Autosomal Dominant;not provided	unknown	NA	NA	0	0	VariationID_130245
SCN8A:1054:H:P	SCN8A	1054	H	P	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_406255
SCN8A:1055:R:Q	SCN8A	1055	R	Q	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.867e-05	2	not specified	unknown	NA	NA	0	0	VariationID_436670
SCN8A:1055:R:W	SCN8A	1055	R	W	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	4.504e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1069:G:S	SCN8A	1069	G	S	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_423345
SCN8A:1089:N:K	SCN8A	1089	N	K	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Likely pathogenic	1.625e-05	2	Early infantile epileptic encephalopathy 13	unknown	NA	NA	0	0	VariationID_522699
SCN8A:1119:P:L	SCN8A	1119	P	L	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.336e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207112
SCN8A:1124:D:N	SCN8A	1124	D	N	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1127:D:N	SCN8A	1127	D	N	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early infantile	maf_pathogenic	NA	NA	1	1	28454995
SCN8A:1147:P:R	SCN8A	1147	P	R	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1148:V:M	SCN8A	1148	V	M	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	3.812e-05	2	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	unknown	NA	NA	0	0	VariationID_309360
SCN8A:1148:V:M	SCN8A	1148	V	M	ENST00000354534;NM_014191.3	Hyperinsulinism	NA	unknown	hgmd	unknown	DM	3.812e-05	1	Hyperinsulinism	unknown	NA	NA	0	0	23869231
SCN8A:1168:R:Q	SCN8A	1168	R	Q	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.276e-05	2	not specified	unknown	NA	NA	0	0	VariationID_207113
SCN8A:1177:E:K	SCN8A	1177	E	K	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Likely benign	1.226e-05	2	Early infantile epileptic encephalopathy	unknown	NA	NA	0	0	VariationID_461338
SCN8A:1188:R:Q	SCN8A	1188	R	Q	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461339
SCN8A:1214:A:T	SCN8A	1214	A	T	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.251e-05	3	not specified	unknown	NA	NA	0	0	VariationID_207114
SCN8A:1218:E:K	SCN8A	1218	E	K	ENST00000354534;NM_014191.3	Intellectual disability	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intellectual disability	maf_pathogenic	NA	NA	0	1	28702509
SCN8A:1237:K:R	SCN8A	1237	K	R	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.218e-05	2	not specified	unknown	NA	NA	0	0	VariationID_392657
SCN8A:1237:K:R	SCN8A	1237	K	R	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	1.218e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1241:Y:C	SCN8A	1241	Y	C	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.061e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207115
SCN8A:1257:V:I	SCN8A	1257	V	I	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.446e-05	2	not specified	unknown	NA	NA	0	0	VariationID_207116
SCN8A:1277:V:D	SCN8A	1277	V	D	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_391356
SCN8A:1308:S:P	SCN8A	1308	S	P	ENST00000354534;NM_014191.3	DD_noE	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_noE	maf_pathogenic	NA	NA	0	1	29942082
SCN8A:1313:M:I	SCN8A	1313	M	I	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_426295
SCN8A:1315:V:L	SCN8A	1315	V	L	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_432948
SCN8A:1315:V:M	SCN8A	1315	V	M	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C infantile	maf_pathogenic	NA	NA	1	1	26993267
SCN8A:1315:V:M	SCN8A	1315	V	M	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1318:N:S	SCN8A	1318	N	S	ENST00000354534;NM_014191.3	DEE	de novo	gof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN8A:1318:N:S	SCN8A	1318	N	S	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1319:A:S	SCN8A	1319	A	S	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207117
SCN8A:1320:L:F	SCN8A	1320	L	F	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1323:A:P	SCN8A	1323	A	P	ENST00000354534;NM_014191.3	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN8A:1323:A:S	SCN8A	1323	A	S	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C infantile	maf_pathogenic	NA	NA	1	1	26993267
SCN8A:1323:A:S	SCN8A	1323	A	S	ENST00000354534;NM_014191.3	DD_noE	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_noE	maf_pathogenic	NA	NA	0	1	29942082
SCN8A:1323:A:T	SCN8A	1323	A	T	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_195688
SCN8A:1327:I:V	SCN8A	1327	I	V	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	2	Early infantile epileptic encephalopathy 13;not provided	maf_pathogenic	NA	NA	1	1	VariationID_253288
SCN8A:1327:I:V	SCN8A	1327	I	V	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C multiple congenital anomalies and movement disorders	maf_pathogenic	NA	NA	1	1	24352161,27375106,25799905,26993267
SCN8A:1329:N:D	SCN8A	1329	N	D	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	1	1	VariationID_195689
SCN8A:1329:N:D	SCN8A	1329	N	D	ENST00000354534;NM_014191.3	Epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy	maf_pathogenic	NA	NA	0	1	27875746
SCN8A:1331:L:V	SCN8A	1331	L	V	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_60709
SCN8A:1331:L:V	SCN8A	1331	L	V	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	23708187,27267376
SCN8A:1332:L:R	SCN8A	1332	L	R	ENST00000354534;NM_014191.3	Epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy	maf_pathogenic	NA	NA	0	1	27875746
SCN8A:1378:K:N	SCN8A	1378	K	N	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	4.066e-06	2	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	maf_pathogenic	NA	NA	0	0	VariationID_309364
SCN8A:1381:E:Q	SCN8A	1381	E	Q	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	0	2	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	maf_pathogenic	NA	NA	0	0	VariationID_309365
SCN8A:1403:Y:S	SCN8A	1403	Y	S	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1405:A:D	SCN8A	1405	A	D	ENST00000354534;NM_014191.3	Refractory seizures & autistic features	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Refractory seizures & autistic features	maf_pathogenic	NA	NA	0	1	28084268
SCN8A:1426:R:Q	SCN8A	1426	R	Q	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_391815
SCN8A:1438:I:V	SCN8A	1438	I	V	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1443:Y:C	SCN8A	1443	Y	C	ENST00000354534;NM_014191.3	ID_noE	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ID_noE	maf_pathogenic	NA	NA	0	1	29942082
SCN8A:1451:G:S	SCN8A	1451	G	S	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Early infantile epileptic encephalopathy 13;not specified	maf_pathogenic	NA	NA	0	0	VariationID_192318
SCN8A:1451:G:S	SCN8A	1451	G	S	ENST00000354534;NM_014191.3	Intellectual disability and epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intellectual disability and epilepsy	maf_pathogenic	NA	NA	0	1	25725044
SCN8A:1459:F:L	SCN8A	1459	F	L	ENST00000354534;NM_014191.3	DEE	de novo	gof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN8A:1459:F:L	SCN8A	1459	F	L	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1465:D:V	SCN8A	1465	D	V	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	1	1	VariationID_431135
SCN8A:1466:N:K	SCN8A	1466	N	K	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_156107
SCN8A:1466:N:K	SCN8A	1466	N	K	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C infantile	maf_pathogenic	NA	NA	1	1	24888894
SCN8A:1466:N:T	SCN8A	1466	N	T	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_156108
SCN8A:1466:N:T	SCN8A	1466	N	T	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C infantile	maf_pathogenic	NA	NA	1	1	24888894
SCN8A:1468:N:S	SCN8A	1468	N	S	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Likely pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_374375
SCN8A:1470:Q:P	SCN8A	1470	Q	P	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	1	1	VariationID_488588
SCN8A:1471:K:M	SCN8A	1471	K	M	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_374481
SCN8A:1471:K:M	SCN8A	1471	K	M	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1471:K:Q	SCN8A	1471	K	Q	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_383869
SCN8A:1475:G:R	SCN8A	1475	G	R	ENST00000354534;NM_014191.3	DEE	de novo	gof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN8A:1475:G:R	SCN8A	1475	G	R	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 13;Epileptic encephalopathy;not provided	maf_pathogenic	NA	NA	0	0	VariationID_207119
SCN8A:1475:G:R	SCN8A	1475	G	R	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C infantile	maf_pathogenic	NA	NA	1	1	27864847
SCN8A:1475:G:R	SCN8A	1475	G	R	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1476:G:S	SCN8A	1476	G	S	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_418482
SCN8A:1479:I:V	SCN8A	1479	I	V	ENST00000354534;NM_014191.3	DEE	de novo	gof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN8A:1479:I:V	SCN8A	1479	I	V	ENST00000354534;NM_014191.3	DEE	de novo	gof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN8A:1479:I:V	SCN8A	1479	I	V	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	2	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	1	1	VariationID_207120
SCN8A:1479:I:V	SCN8A	1479	I	V	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	25568300
SCN8A:1479:I:V	SCN8A	1479	I	V	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1480:F:I	SCN8A	1480	F	I	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_391391
SCN8A:1480:F:L	SCN8A	1480	F	L	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207121
SCN8A:1481:M:V	SCN8A	1481	M	V	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_280470
SCN8A:1483:E:K	SCN8A	1483	E	K	ENST00000354534;NM_014191.3	DEE	segr_w_disease	gof	Heyneetal_GiM19_DNV	unknown	unknown	NA	NA	NA	NA	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1483:E:K	SCN8A	1483	E	K	ENST00000354534;NM_014191.3	Seizures, benign familial infantile, 5	NA	unknown	clinvar	unknown	Pathogenic	0	1	Seizures, benign familial infantile, 5	maf_pathogenic	NA	NA	0	0	VariationID_253195
SCN8A:1483:E:K	SCN8A	1483	E	K	ENST00000354534;NM_014191.3	Infantile seizures%2C benign and paroxysmal dyskinesia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Infantile seizures%2C benign and paroxysmal dyskinesia	maf_pathogenic	NA	NA	0	1	26677014
SCN8A:1483:E:K	SCN8A	1483	E	K	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1491:A:V	SCN8A	1491	A	V	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207123
SCN8A:1493:K:E	SCN8A	1493	K	E	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_406257
SCN8A:1501:Q:K	SCN8A	1501	Q	K	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_377169
SCN8A:1515:V:I	SCN8A	1515	V	I	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Benign	0.0005828	2	Early infantile epileptic encephalopathy	unknown	NA	NA	0	0	VariationID_461342
SCN8A:1530:M:I	SCN8A	1530	M	I	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.25e-05	2	not specified	unknown	NA	NA	0	0	VariationID_449813
SCN8A:1532:I:F	SCN8A	1532	I	F	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C early onset	maf_pathogenic	NA	NA	1	1	27781031
SCN8A:1560:V:M	SCN8A	1560	V	M	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.124e-06	2	not specified	unknown	NA	NA	0	0	VariationID_430073
SCN8A:1568:E:D	SCN8A	1568	E	D	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461344
SCN8A:1573:M:I	SCN8A	1573	M	I	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	5.687e-05	3	not specified	unknown	NA	NA	0	0	VariationID_207143
SCN8A:1583:I:T	SCN8A	1583	I	T	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002031	0	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 13;not provided;not specified	unknown	NA	NA	0	0	VariationID_130248
SCN8A:1583:I:T	SCN8A	1583	I	T	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0.0002031	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1592:V:L	SCN8A	1592	V	L	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	2	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	1	1	VariationID_130249
SCN8A:1592:V:L	SCN8A	1592	V	L	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	25568300
SCN8A:1594:I:L	SCN8A	1594	I	L	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.065e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207144
SCN8A:1596:S:C	SCN8A	1596	S	C	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253290
SCN8A:1596:S:C	SCN8A	1596	S	C	ENST00000354534;NM_014191.3	Intellectual disability and epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intellectual disability and epilepsy	maf_pathogenic	NA	NA	0	1	25785782,26252990
SCN8A:1598:V:A	SCN8A	1598	V	A	ENST00000354534;NM_014191.3	Epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy	maf_pathogenic	NA	NA	0	1	28923014
SCN8A:1600:M:V	SCN8A	1600	M	V	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207124
SCN8A:1605:I:R	SCN8A	1605	I	R	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	25568300
SCN8A:1605:I:V	SCN8A	1605	I	V	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253291
SCN8A:1614:T:A	SCN8A	1614	T	A	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy;not provided	maf_pathogenic	NA	NA	0	0	VariationID_444293
SCN8A:1617:R:Q	SCN8A	1617	R	Q	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Early infantile epileptic encephalopathy 13;not provided	maf_pathogenic	NA	NA	1	1	VariationID_156106
SCN8A:1617:R:Q	SCN8A	1617	R	Q	ENST00000354534;NM_014191.3	Intellectual disability%2C nonsyndromic	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intellectual disability%2C nonsyndromic	maf_pathogenic	NA	NA	0	1	23020937,28554332,25046240,25785782,24888894,26900580
SCN8A:1617:R:Q	SCN8A	1617	R	Q	ENST00000354534;NM_014191.3	ID_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	ID_E	maf_pathogenic	NA	NA	0	1	29942082
SCN8A:1617:R:Q	SCN8A	1617	R	Q	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1620:R:L	SCN8A	1620	R	L	ENST00000354534;NM_014191.3	Inborn genetic diseases	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	1	VariationID_225100
SCN8A:1620:R:L	SCN8A	1620	R	L	ENST00000354534;NM_014191.3	Autism spectrum disorder	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Autism spectrum disorder	maf_pathogenic	NA	NA	0	1	28330790
SCN8A:1621:L:W	SCN8A	1621	L	W	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253292
SCN8A:1621:L:W	SCN8A	1621	L	W	ENST00000354534;NM_014191.3	Intellectual disability and epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Intellectual disability and epilepsy	maf_pathogenic	NA	NA	0	1	26235738
SCN8A:1622:A:D	SCN8A	1622	A	D	ENST00000354534;NM_014191.3	Inborn genetic diseases	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	1	VariationID_520653
SCN8A:1625:G:R	SCN8A	1625	G	R	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253293
SCN8A:1625:G:R	SCN8A	1625	G	R	ENST00000354534;NM_014191.3	DD_E	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_E	maf_pathogenic	NA	NA	0	1	29942082
SCN8A:1625:G:W	SCN8A	1625	G	W	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_383440
SCN8A:1626:R:H	SCN8A	1626	R	H	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_290005
SCN8A:1627:I:L	SCN8A	1627	I	L	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_429498
SCN8A:1628:L:W	SCN8A	1628	L	W	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_450347
SCN8A:1630:L:P	SCN8A	1630	L	P	ENST00000354534;NM_014191.3	Seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Seizures	maf_pathogenic	NA	NA	0	1	26633542
SCN8A:1631:I:N	SCN8A	1631	I	N	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_427167
SCN8A:1638:R:C	SCN8A	1638	R	C	ENST00000354534;NM_014191.3	DEE	segr_w_disease	gof	Heyneetal_GiM19_DNV	unknown	unknown	NA	NA	NA	NA	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1638:R:C	SCN8A	1638	R	C	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1638:R:H	SCN8A	1638	R	H	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_421047
SCN8A:1641:L:P	SCN8A	1641	L	P	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1645:M:I	SCN8A	1645	M	I	ENST00000354534;NM_014191.3	Partial seizures with intellectual / developmental disabilities	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Partial seizures with intellectual / developmental disabilities	maf_pathogenic	NA	NA	0	1	26544041
SCN8A:1646:M:L	SCN8A	1646	M	L	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207126
SCN8A:1650:A:T	SCN8A	1650	A	T	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Early infantile epileptic encephalopathy 13;Epileptic encephalopathy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_253294
SCN8A:1650:A:T	SCN8A	1650	A	T	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C infantile	maf_pathogenic	NA	NA	1	1	24888894
SCN8A:1650:A:V	SCN8A	1650	A	V	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207127
SCN8A:1651:L:V	SCN8A	1651	L	V	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1654:I:N	SCN8A	1654	I	N	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1672:N:S	SCN8A	1672	N	S	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1679:E:K	SCN8A	1679	E	K	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.122e-06	2	not specified	unknown	NA	NA	0	0	VariationID_207128
SCN8A:1695:M:V	SCN8A	1695	M	V	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1703:T:A	SCN8A	1703	T	A	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1717:R:H	SCN8A	1717	R	H	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	8.124e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1718:P:S	SCN8A	1718	P	S	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_196029
SCN8A:1724:D:Y	SCN8A	1724	D	Y	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_453056
SCN8A:1727:H:Q	SCN8A	1727	H	Q	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_374665
SCN8A:1727:H:Q	SCN8A	1727	H	Q	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1754:F:S	SCN8A	1754	F	S	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C infantile	maf_pathogenic	NA	NA	1	1	26993267
SCN8A:1757:V:I	SCN8A	1757	V	I	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	0	2	Early infantile epileptic encephalopathy	maf_pathogenic	NA	NA	0	0	VariationID_461346
SCN8A:1759:N:S	SCN8A	1759	N	S	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	1	1	VariationID_224126
SCN8A:1759:N:S	SCN8A	1759	N	S	ENST00000354534;NM_014191.3	Moderate intellectual disability%2C macrocephaly%2C seizures and frontal bossing	NA	unknown	hgmd	unknown	DM	0	1	Moderate intellectual disability%2C macrocephaly%2C seizures and frontal bossing	maf_pathogenic	NA	NA	0	0	28554332
SCN8A:1760:M:I	SCN8A	1760	M	I	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	unknown	Uncertain significance	0	1	not provided	maf_pathogenic	NA	NA	0	0	VariationID_444294
SCN8A:1760:M:T	SCN8A	1760	M	T	ENST00000354534;NM_014191.3	Inborn genetic diseases	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Inborn genetic diseases	maf_pathogenic	NA	NA	0	1	VariationID_521651
SCN8A:1768:N:D	SCN8A	1768	N	D	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_30123
SCN8A:1768:N:D	SCN8A	1768	N	D	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C infantile	maf_pathogenic	NA	NA	1	1	22365152,28676574,27267376,27836728,25227913
SCN8A:1787:T:N	SCN8A	1787	T	N	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_430208
SCN8A:1787:T:P	SCN8A	1787	T	P	ENST00000354534;NM_014191.3	DEE	de novo	gof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN8A:1787:T:P	SCN8A	1787	T	P	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1789:Y:C	SCN8A	1789	Y	C	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_500921
SCN8A:1798:D:N	SCN8A	1798	D	N	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1801:Q:E	SCN8A	1801	Q	E	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253295
SCN8A:1801:Q:E	SCN8A	1801	Q	E	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	25568300
SCN8A:1801:Q:E	SCN8A	1801	Q	E	ENST00000354534;NM_014191.3	EE_E	NA	gof	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	EE_E	maf_pathogenic	NA	NA	1	1	29942082
SCN8A:1806:C:Y	SCN8A	1806	C	Y	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.068e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_207129
SCN8A:1827:I:V	SCN8A	1827	I	V	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	2.031e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1836:M:V	SCN8A	1836	M	V	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	2.437e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1840:D:N	SCN8A	1840	D	N	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1848:L:F	SCN8A	1848	L	F	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1852:T:I	SCN8A	1852	T	I	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207130
SCN8A:1852:T:I	SCN8A	1852	T	I	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1861:E:D	SCN8A	1861	E	D	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1862:L:S	SCN8A	1862	L	S	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1865:L:P	SCN8A	1865	L	P	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C infantile	maf_pathogenic	NA	NA	1	1	26993267
SCN8A:1866:R:Q	SCN8A	1866	R	Q	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_450430
SCN8A:1869:M:T	SCN8A	1869	M	T	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_420831
SCN8A:1870:E:D	SCN8A	1870	E	D	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Pathogenic	0	1	Early infantile epileptic encephalopathy 13	maf_pathogenic	NA	NA	0	0	VariationID_253296
SCN8A:1870:E:D	SCN8A	1870	E	D	ENST00000354534;NM_014191.3	Epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Epilepsy	maf_pathogenic	NA	NA	0	1	26252990
SCN8A:1872:R:G	SCN8A	1872	R	G	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_426434
SCN8A:1872:R:L	SCN8A	1872	R	L	ENST00000354534;NM_014191.3	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_207132
SCN8A:1872:R:L	SCN8A	1872	R	L	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C infantile	maf_pathogenic	NA	NA	1	1	26900580
SCN8A:1872:R:Q	SCN8A	1872	R	Q	ENST00000354534;NM_014191.3	DEE	de novo	gof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN8A:1872:R:Q	SCN8A	1872	R	Q	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	4.064e-06	2	Early infantile epileptic encephalopathy 13;not provided	maf_pathogenic	NA	NA	1	1	VariationID_253297
SCN8A:1872:R:Q	SCN8A	1872	R	Q	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	4.064e-06	2	Epileptic encephalopathy	maf_pathogenic	NA	NA	1	1	25568300,28387369,26647175,26900580
SCN8A:1872:R:Q	SCN8A	1872	R	Q	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	4.064e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1872:R:W	SCN8A	1872	R	W	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	(Likely)pathogenic	Pathogenic/Likely pathogenic	0	3	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 13;Epileptic encephalopathy;not provided	maf_pathogenic	NA	NA	1	1	VariationID_207131
SCN8A:1872:R:W	SCN8A	1872	R	W	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Epileptic encephalopathy%2C infantile	maf_pathogenic	NA	NA	1	1	24888894,25951352,26900580,27779742
SCN8A:1872:R:W	SCN8A	1872	R	W	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1877:N:S	SCN8A	1877	N	S	ENST00000354534;NM_014191.3	DEE	de novo	gof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN8A:1877:N:S	SCN8A	1877	N	S	ENST00000354534;NM_014191.3	DEE	de novo	gof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN8A:1877:N:S	SCN8A	1877	N	S	ENST00000354534;NM_014191.3	DEE	de novo	gof	Heyneetal_GiM19_DNV	(Likely)pathogenic	unknown	NA	NA	NA	NA	NA	NA	1	1	Heyne_etal_bioRxiv2019
SCN8A:1877:N:S	SCN8A	1877	N	S	ENST00000354534;NM_014191.3	DEE	segr_w_disease	gof	Heyneetal_GiM19_DNV	unknown	unknown	NA	NA	NA	NA	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1877:N:S	SCN8A	1877	N	S	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	0	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 13;Focal epilepsy;Seizures, benign familial infantile, 5;not provided;not specified	maf_pathogenic	NA	NA	0	0	VariationID_130252
SCN8A:1877:N:S	SCN8A	1877	N	S	ENST00000354534;NM_014191.3	Benign familial infantile epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Benign familial infantile epilepsy	maf_pathogenic	NA	NA	0	1	27210545,27875746,27864847,28923014
SCN8A:1877:N:S	SCN8A	1877	N	S	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1896:E:G	SCN8A	1896	E	G	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1900:V:A	SCN8A	1900	V	A	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_423909
SCN8A:1921:T:P	SCN8A	1921	T	P	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	9.748e-05	3	Early infantile epileptic encephalopathy;not specified	unknown	NA	NA	0	0	VariationID_207133
SCN8A:1921:T:P	SCN8A	1921	T	P	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	9.748e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1932:R:P	SCN8A	1932	R	P	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	5.282e-05	3	Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Early infantile epileptic encephalopathy;not specified	unknown	NA	NA	0	0	VariationID_207134
SCN8A:1932:R:P	SCN8A	1932	R	P	ENST00000354534;NM_014191.3	DEE	NA	gof	Heyneetal_GiM19	unknown	unknown	5.282e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN8A:1932:R:W	SCN8A	1932	R	W	ENST00000354534;NM_014191.3	epileptic_encephalopathy	NA	gof	clinvar	unknown	Uncertain significance	2.032e-05	2	Early infantile epileptic encephalopathy	unknown	NA	NA	0	0	VariationID_461349
SCN8A:1937:S:R	SCN8A	1937	S	R	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.129e-06	2	not specified	unknown	NA	NA	0	0	VariationID_207135
SCN8A:1960:R:Q	SCN8A	1960	R	Q	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.86e-05	3	not specified	unknown	NA	NA	0	0	VariationID_207136
SCN8A:1963:E:K	SCN8A	1963	E	K	ENST00000354534;NM_014191.3	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_373225
SCN9A:5:P:T	SCN9A	5	P	T	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.231e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:7:P:L	SCN9A	7	P	L	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.229e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:8:G:A	SCN9A	8	G	A	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	2.863e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471098
SCN9A:10:Q:H	SCN9A	10	Q	H	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.153e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:10:Q:K	SCN9A	10	Q	K	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	23129781
SCN9A:10:Q:R	SCN9A	10	Q	R	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001304	0	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Primary erythromelalgia;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	unknown	NA	NA	0	0	VariationID_6370
SCN9A:10:Q:R	SCN9A	10	Q	R	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	unknown	DM	0.0001304	2	Erythromelalgia%2C primary	unknown	NA	NA	0	0	19369487
SCN9A:10:Q:R	SCN9A	10	Q	R	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001304	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:13:V:I	SCN9A	13	V	I	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:20:L:F	SCN9A	20	L	F	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	2.438e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471158
SCN9A:26:R:C	SCN9A	26	R	C	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.064e-05	2	not specified	unknown	NA	NA	0	0	VariationID_245873
SCN9A:26:R:C	SCN9A	26	R	C	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.064e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:41:D:H	SCN9A	41	D	H	ENST00000409435;XM_005246757.1	Childhood absence epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	4.062e-06	2	Childhood absence epilepsy	maf_pathogenic	NA	NA	0	1	28074849
SCN9A:46:A:G	SCN9A	46	A	G	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:46:A:T	SCN9A	46	A	T	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.124e-06	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_245932
SCN9A:51:S:R	SCN9A	51	S	R	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001218	2	not specified	unknown	NA	NA	0	0	VariationID_429722
SCN9A:55:A:V	SCN9A	55	A	V	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:62:I:V	SCN9A	62	I	V	ENST00000409435;XM_005246757.1	Febrile seizures, familial, 3b;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	2.843e-05	0	Febrile seizures, familial, 3b;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_6368
SCN9A:62:I:V	SCN9A	62	I	V	ENST00000409435;XM_005246757.1	Febrile seizures	NA	unknown	hgmd	unknown	DM	2.843e-05	2	Febrile seizures	unknown	NA	NA	0	0	19763161
SCN9A:62:I:V	SCN9A	62	I	V	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.843e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:69:G:S	SCN9A	69	G	S	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.064e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:92:N:Y	SCN9A	92	N	Y	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	maf_pathogenic	NA	NA	0	0	VariationID_331999
SCN9A:97:I:V	SCN9A	97	I	V	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.036e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:98:F:L	SCN9A	98	F	L	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Uncertain significance	1.628e-05	3	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not specified	unknown	NA	NA	0	0	VariationID_245738
SCN9A:99:R:L	SCN9A	99	R	L	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:106:L:S	SCN9A	106	L	S	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.034e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:120:I:M	SCN9A	120	I	M	ENST00000409435;XM_005246757.1	Dravet syndrome	NA	unknown	hgmd	(Likely)pathogenic	DM	4.092e-06	2	Dravet syndrome	maf_pathogenic	NA	NA	0	1	23895530
SCN9A:121:K:Q	SCN9A	121	K	Q	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001801	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:130:M:I	SCN9A	130	M	I	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	3.144e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471118
SCN9A:130:M:I	SCN9A	130	M	I	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.144e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:136:I:V	SCN9A	136	I	V	ENST00000409435;XM_005246757.1	Primary erythromelalgia	NA	gof	clinvar	unknown	Pathogenic	0	1	Primary erythromelalgia	maf_pathogenic	NA	NA	0	0	VariationID_21348
SCN9A:136:I:V	SCN9A	136	I	V	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	17294067,18171466,19633428,23383113
SCN9A:139:N:K	SCN9A	139	N	K	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448294
SCN9A:144:T:I	SCN9A	144	T	I	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.928e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_246562
SCN9A:145:M:T	SCN9A	145	M	T	ENST00000409435;XM_005246757.1	Inborn genetic diseases	NA	unknown	clinvar	unknown	Uncertain significance	2.479e-05	2	Inborn genetic diseases	unknown	NA	NA	0	0	VariationID_522010
SCN9A:145:M:T	SCN9A	145	M	T	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.479e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:149:P:Q	SCN9A	149	P	Q	ENST00000409435;XM_005246757.1	Febrile seizures, familial, 3b	NA	unknown	clinvar	unknown	Pathogenic	0	1	Febrile seizures, familial, 3b	maf_pathogenic	NA	NA	0	0	VariationID_6369
SCN9A:149:P:Q	SCN9A	149	P	Q	ENST00000409435;XM_005246757.1	Febrile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Febrile seizures	maf_pathogenic	NA	NA	0	1	19763161,25525159
SCN9A:163:Y:C	SCN9A	163	Y	C	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_234919
SCN9A:169:V:A	SCN9A	169	V	A	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:177:C:S	SCN9A	177	C	S	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:185:R:C	SCN9A	185	R	C	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	1.626e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471146
SCN9A:185:R:H	SCN9A	185	R	H	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.002846	0	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not provided;not specified	unknown	NA	NA	0	0	VariationID_157596
SCN9A:185:R:H	SCN9A	185	R	H	ENST00000409435;XM_005246757.1	Small fibre neuropathy	NA	unknown	hgmd	unknown	DM	0.002846	2	Small fibre neuropathy	unknown	NA	NA	0	0	21698661,27843123,22035805,22826602,24817410,23895530
SCN9A:185:R:H	SCN9A	185	R	H	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.002846	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:187:P:L	SCN9A	187	P	L	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	unknown	DM	1.22e-05	1	Erythromelalgia%2C primary	unknown	NA	NA	0	0	N/A
SCN9A:199:A:V	SCN9A	199	A	V	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	8.138e-06	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471160
SCN9A:201:L:V	SCN9A	201	L	V	ENST00000409435;XM_005246757.1	Primary erythromelalgia	NA	gof	clinvar	unknown	Benign	8.146e-06	1	Primary erythromelalgia	unknown	NA	NA	0	0	VariationID_21349
SCN9A:206:N:D	SCN9A	206	N	D	ENST00000409435;XM_005246757.1	Primary erythromelalgia	NA	gof	clinvar	unknown	Benign	0	1	Primary erythromelalgia	maf_pathogenic	NA	NA	0	0	VariationID_21350
SCN9A:210:V:I	SCN9A	210	V	I	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.627e-05	2	not specified	unknown	NA	NA	0	0	VariationID_246187
SCN9A:211:S:P	SCN9A	211	S	P	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	20123784
SCN9A:214:R:Q	SCN9A	214	R	Q	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.66e-05	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_432286
SCN9A:216:F:S	SCN9A	216	F	S	ENST00000409435;XM_005246757.1	Primary erythromelalgia	NA	gof	clinvar	unknown	Pathogenic	0	1	Primary erythromelalgia	maf_pathogenic	NA	NA	0	0	VariationID_6365
SCN9A:216:F:S	SCN9A	216	F	S	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	15955112,16988069,23152140
SCN9A:228:I:M	SCN9A	228	I	M	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0009201	0	Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type IIA;Indifference to pain, congenital, autosomal recessive;Paroxysmal extreme pain disorder;Primary erythromelalgia;Severe myoclonic epilepsy in infancy;not provided;not specified	unknown	NA	NA	0	0	VariationID_198153
SCN9A:228:I:M	SCN9A	228	I	M	ENST00000409435;XM_005246757.1	Dravet syndrome	NA	unknown	hgmd	unknown	DM	0.0009201	2	Dravet syndrome	unknown	NA	NA	0	0	19763161,22136189,22136189,21698661,21698661,26264438,25993546,25993546,23280954,N/A
SCN9A:228:I:M	SCN9A	228	I	M	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0009201	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:229:P:T	SCN9A	229	P	T	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Uncertain significance	2.85e-05	2	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	unknown	NA	NA	0	0	VariationID_331998
SCN9A:232:K:R	SCN9A	232	K	R	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_245762
SCN9A:234:I:T	SCN9A	234	I	T	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	20385509,26486037,23893323
SCN9A:241:S:T	SCN9A	241	S	T	ENST00000409435;XM_005246757.1	Primary erythromelalgia	NA	gof	clinvar	unknown	Conflicting interpretations of pathogenicity	0	1	Primary erythromelalgia	maf_pathogenic	NA	NA	0	0	VariationID_6351
SCN9A:241:S:T	SCN9A	241	S	T	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	16216943,27088781,17008310,26920677,23149731
SCN9A:245:L:V	SCN9A	245	L	V	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	25995458
SCN9A:249:M:L	SCN9A	249	M	L	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471163
SCN9A:262:I:T	SCN9A	262	I	T	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	8.132e-06	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471165
SCN9A:266:L:M	SCN9A	266	L	M	ENST00000409435;XM_005246757.1	Febrile seizures	NA	unknown	hgmd	(Likely)pathogenic	DM	4.068e-06	2	Febrile seizures	maf_pathogenic	NA	NA	0	1	23895530,28842445
SCN9A:277:R:Q	SCN9A	277	R	Q	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.15e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:283:N:Y	SCN9A	283	N	Y	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_452227
SCN9A:286:L:I	SCN9A	286	L	I	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	2.503e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471166
SCN9A:286:L:I	SCN9A	286	L	I	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.503e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:294:E:K	SCN9A	294	E	K	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471167
SCN9A:298:D:N	SCN9A	298	D	N	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.44e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_373380
SCN9A:313:L:V	SCN9A	313	L	V	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_408583
SCN9A:319:T:P	SCN9A	319	T	P	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.083e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:338:D:E	SCN9A	338	D	E	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	maf_pathogenic	NA	NA	0	0	VariationID_331996
SCN9A:341:Y:C	SCN9A	341	Y	C	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	maf_pathogenic	NA	NA	0	0	VariationID_245823
SCN9A:345:D:G	SCN9A	345	D	G	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471077
SCN9A:345:D:H	SCN9A	345	D	H	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471076
SCN9A:365:N:S	SCN9A	365	N	S	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Uncertain significance	4.975e-06	2	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	maf_pathogenic	NA	NA	0	0	VariationID_331995
SCN9A:367:Y:H	SCN9A	367	Y	H	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001305	2	not specified	unknown	NA	NA	0	0	VariationID_245822
SCN9A:367:Y:H	SCN9A	367	Y	H	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001305	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:370:T:M	SCN9A	370	T	M	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0003898	3	not specified	unknown	NA	NA	0	0	VariationID_193647
SCN9A:370:T:M	SCN9A	370	T	M	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003898	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:372:R:H	SCN9A	372	R	H	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.81e-05	2	not specified	unknown	NA	NA	0	0	VariationID_245825
SCN9A:380:I:N	SCN9A	380	I	N	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Likely benign	0	2	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	maf_pathogenic	NA	NA	0	0	VariationID_331994
SCN9A:384:V:I	SCN9A	384	V	I	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.944e-05	2	not specified	unknown	NA	NA	0	0	VariationID_448290
SCN9A:395:N:K	SCN9A	395	N	K	ENST00000409435;XM_005246757.1	Primary erythromelalgia	NA	gof	clinvar	unknown	Pathogenic	0	1	Primary erythromelalgia	maf_pathogenic	NA	NA	0	0	VariationID_21343
SCN9A:395:N:K	SCN9A	395	N	K	ENST00000409435;XM_005246757.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_245897
SCN9A:395:N:K	SCN9A	395	N	K	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	17263810
SCN9A:395:N:K	SCN9A	395	N	K	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	15955112,17430993
SCN9A:400:V:M	SCN9A	400	V	M	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	19557861,26920677
SCN9A:402:A:T	SCN9A	402	A	T	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	2.443e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471079
SCN9A:403:M:L	SCN9A	403	M	L	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Uncertain significance	1.628e-05	2	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	unknown	NA	NA	0	0	VariationID_331993
SCN9A:403:M:T	SCN9A	403	M	T	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Likely benign	4.886e-05	2	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	unknown	NA	NA	0	0	VariationID_331992
SCN9A:413:I:T	SCN9A	413	I	T	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.848e-05	2	not specified	unknown	NA	NA	0	0	VariationID_193648
SCN9A:416:A:T	SCN9A	416	A	T	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.069e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:425:Q:K	SCN9A	425	Q	K	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471080
SCN9A:426:M:K	SCN9A	426	M	K	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Likely benign	0.0001384	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_415032
SCN9A:427:L:S	SCN9A	427	L	S	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	5.698e-05	2	not specified	unknown	NA	NA	0	0	VariationID_234638
SCN9A:427:L:S	SCN9A	427	L	S	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.698e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:429:R:C	SCN9A	429	R	C	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.155e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:429:R:H	SCN9A	429	R	H	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.896e-05	2	not specified	unknown	NA	NA	0	0	VariationID_498859
SCN9A:435:E:A	SCN9A	435	E	A	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.08e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_432313
SCN9A:444:A:V	SCN9A	444	A	V	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	1.697e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471082
SCN9A:446:E:K	SCN9A	446	E	K	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:450:I:T	SCN9A	450	I	T	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471083
SCN9A:450:I:V	SCN9A	450	I	V	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.733e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:485:Q:R	SCN9A	485	Q	R	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	4.476e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471084
SCN9A:490:S:N	SCN9A	490	S	N	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Benign/Likely benign	0.01509	3	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not specified	unknown	NA	NA	0	0	VariationID_130258
SCN9A:490:S:N	SCN9A	490	S	N	ENST00000409435;XM_005246757.1	Febrile seizures	NA	unknown	hgmd	unknown	DM	0.01509	1	Febrile seizures	unknown	NA	NA	0	0	19763161,27884173
SCN9A:494:K:N	SCN9A	494	K	N	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Likely benign	8.128e-06	2	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	unknown	NA	NA	0	0	VariationID_331990
SCN9A:517:G:S	SCN9A	517	G	S	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471085
SCN9A:519:E:K	SCN9A	519	E	K	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0004595	0	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not specified	unknown	NA	NA	0	0	VariationID_193859
SCN9A:519:E:K	SCN9A	519	E	K	ENST00000409435;XM_005246757.1	Dravet syndrome	NA	unknown	hgmd	unknown	DM	0.0004595	1	Dravet syndrome	unknown	NA	NA	0	0	19763161
SCN9A:519:E:K	SCN9A	519	E	K	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0004595	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:533:N:S	SCN9A	533	N	S	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.935e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:535:S:A	SCN9A	535	S	A	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	2.234e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471087
SCN9A:540:R:H	SCN9A	540	R	H	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001988	0	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not specified	unknown	NA	NA	0	0	VariationID_331988
SCN9A:548:R:Q	SCN9A	548	R	Q	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	3.273e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471088
SCN9A:550:S:R	SCN9A	550	S	R	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.633e-05	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_234892
SCN9A:550:S:R	SCN9A	550	S	R	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.633e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:554:L:I	SCN9A	554	L	I	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.259e-05	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_234893
SCN9A:554:L:I	SCN9A	554	L	I	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.259e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:559:G:S	SCN9A	559	G	S	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.139e-05	2	not specified	unknown	NA	NA	0	0	VariationID_430171
SCN9A:559:G:S	SCN9A	559	G	S	ENST00000409435;XM_005246757.1	Dravet syndrome	NA	unknown	hgmd	unknown	DM	8.139e-05	1	Dravet syndrome	unknown	NA	NA	0	0	23895530
SCN9A:559:G:S	SCN9A	559	G	S	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.139e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:572:D:N	SCN9A	572	D	N	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	6.098e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_408586
SCN9A:577:I:V	SCN9A	577	I	V	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_408581
SCN9A:582:E:K	SCN9A	582	E	K	ENST00000409435;XM_005246757.1	Dravet syndrome	NA	unknown	hgmd	unknown	DM	0.0001138	1	Dravet syndrome	unknown	NA	NA	0	0	23895530
SCN9A:597:R:Q	SCN9A	597	R	Q	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	2.033e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_408584
SCN9A:597:R:Q	SCN9A	597	R	Q	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.033e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:598:R:H	SCN9A	598	R	H	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Likely benign	9.757e-05	3	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	unknown	NA	NA	0	0	VariationID_331986
SCN9A:598:R:H	SCN9A	598	R	H	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	9.757e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:610:P:T	SCN9A	610	P	T	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Primary erythromelalgia;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.02412	0	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Primary erythromelalgia;not specified	unknown	NA	NA	0	0	VariationID_21344
SCN9A:610:P:T	SCN9A	610	P	T	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	unknown	DM	0.02412	1	Erythromelalgia%2C primary	unknown	NA	NA	0	0	15955112,27884173,22995991,25333069,23895530,18518989
SCN9A:610:P:T	SCN9A	610	P	T	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.02412	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:613:P:L	SCN9A	613	P	L	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Benign/Likely benign	0.0007522	3	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	unknown	NA	NA	0	0	VariationID_331985
SCN9A:613:P:L	SCN9A	613	P	L	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0007522	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:616:G:R	SCN9A	616	G	R	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	6.915e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_433099
SCN9A:616:G:R	SCN9A	616	G	R	ENST00000409435;XM_005246757.1	Erythromelalgia%2C late-onset	NA	unknown	hgmd	unknown	DM	6.915e-05	2	Erythromelalgia%2C late-onset	unknown	NA	NA	0	0	20478850
SCN9A:619:H:P	SCN9A	619	H	P	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	1.22e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471089
SCN9A:623:D:H	SCN9A	623	D	H	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.069e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:623:D:N	SCN9A	623	D	N	ENST00000409435;XM_005246757.1	Small fiber neuropathy	NA	unknown	clinvar	unknown	Pathogenic	0	1	Small fiber neuropathy	maf_pathogenic	NA	NA	0	0	VariationID_30358
SCN9A:623:D:N	SCN9A	623	D	N	ENST00000409435;XM_005246757.1	Small fibre neuropathy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Small fibre neuropathy	maf_pathogenic	NA	NA	0	1	21698661,23850641
SCN9A:634:R:H	SCN9A	634	R	H	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.223e-05	2	not specified	unknown	NA	NA	0	0	VariationID_234800
SCN9A:634:R:L	SCN9A	634	R	L	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471090
SCN9A:641:N:Y	SCN9A	641	N	Y	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	2.858e-05	0	Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_6366
SCN9A:641:N:Y	SCN9A	641	N	Y	ENST00000409435;XM_005246757.1	Febrile seizures	NA	unknown	hgmd	unknown	DM	2.858e-05	2	Febrile seizures	unknown	NA	NA	0	0	19763161
SCN9A:641:N:Y	SCN9A	641	N	Y	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.858e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:660:T:M	SCN9A	660	T	M	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	5.66e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_433098
SCN9A:666:K:R	SCN9A	666	K	R	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus, type 7;Global developmental delay;Hereditary sensory and autonomic neuropathy type IIA;Hypoglycemia;Seizures;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.001929	0	Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus, type 7;Global developmental delay;Hereditary sensory and autonomic neuropathy type IIA;Hypoglycemia;Seizures;not provided;not specified	unknown	NA	NA	0	0	VariationID_6367
SCN9A:666:K:R	SCN9A	666	K	R	ENST00000409435;XM_005246757.1	Febrile seizures	NA	unknown	hgmd	unknown	DM	0.001929	2	Febrile seizures	unknown	NA	NA	0	0	19763161,27504264,26264438,23129781
SCN9A:666:K:R	SCN9A	666	K	R	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001929	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:667:K:E	SCN9A	667	K	E	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.088e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_373455
SCN9A:668:R:S	SCN9A	668	R	S	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.04e-05	2	not specified	unknown	NA	NA	0	0	VariationID_451017
SCN9A:668:R:S	SCN9A	668	R	S	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	2.04e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:669:R:C	SCN9A	669	R	C	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001226	2	not specified	unknown	NA	NA	0	0	VariationID_449780
SCN9A:669:R:H	SCN9A	669	R	H	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0.000102	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471092
SCN9A:669:R:H	SCN9A	669	R	H	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.000102	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:695:I:M	SCN9A	695	I	M	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	6.511e-05	3	not specified	unknown	NA	NA	0	0	VariationID_246106
SCN9A:695:I:M	SCN9A	695	I	M	ENST00000409435;XM_005246757.1	Dravet syndrome	NA	unknown	hgmd	unknown	DM	6.511e-05	1	Dravet syndrome	unknown	NA	NA	0	0	19763161
SCN9A:695:I:M	SCN9A	695	I	M	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.511e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:710:C:R	SCN9A	710	C	R	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	5.07e-06	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471094
SCN9A:710:C:Y	SCN9A	710	C	Y	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	3.539e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_408580
SCN9A:710:C:Y	SCN9A	710	C	Y	ENST00000409435;XM_005246757.1	Dravet syndrome	NA	unknown	hgmd	unknown	DM	3.539e-05	1	Dravet syndrome	unknown	NA	NA	0	0	19763161
SCN9A:710:C:Y	SCN9A	710	C	Y	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.539e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:722:L:S	SCN9A	722	L	S	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Likely benign	0.000243	3	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not provided	unknown	NA	NA	0	0	VariationID_331983
SCN9A:725:N:S	SCN9A	725	N	S	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.671e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:730:W:C	SCN9A	730	W	C	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Benign/Likely benign	0.0007222	3	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not provided;not specified	unknown	NA	NA	0	0	VariationID_258882
SCN9A:730:W:C	SCN9A	730	W	C	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0007222	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:731:I:K	SCN9A	731	I	K	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001532	0	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Primary erythromelalgia;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not specified	unknown	NA	NA	0	0	VariationID_30357
SCN9A:731:I:K	SCN9A	731	I	K	ENST00000409435;XM_005246757.1	Small fibre neuropathy	NA	unknown	hgmd	unknown	DM	0.0001532	2	Small fibre neuropathy	unknown	NA	NA	0	0	21698661,22035805
SCN9A:731:I:V	SCN9A	731	I	V	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:735:K:N	SCN9A	735	K	N	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.886e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:740:I:M	SCN9A	740	I	M	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.455e-05	3	not specified	unknown	NA	NA	0	0	VariationID_289843
SCN9A:750:I:V	SCN9A	750	I	V	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.002401	0	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not provided;not specified	unknown	NA	NA	0	0	VariationID_157597
SCN9A:750:I:V	SCN9A	750	I	V	ENST00000409435;XM_005246757.1	Febrile seizures	NA	unknown	hgmd	unknown	DM	0.002401	1	Febrile seizures	unknown	NA	NA	0	0	19763161,24820863,21698661,21698661,22826602,22539570
SCN9A:750:I:V	SCN9A	750	I	V	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.002401	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:761:M:K	SCN9A	761	M	K	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471096
SCN9A:767:P:T	SCN9A	767	P	T	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	2.844e-05	2	not specified	unknown	NA	NA	0	0	VariationID_451326
SCN9A:768:M:I	SCN9A	768	M	I	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	3.344e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_254096
SCN9A:780:N:S	SCN9A	780	N	S	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_408578
SCN9A:784:T:S	SCN9A	784	T	S	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Uncertain significance	7.484e-05	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_245859
SCN9A:789:A:T	SCN9A	789	A	T	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_408588
SCN9A:791:M:I	SCN9A	791	M	I	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:791:M:T	SCN9A	791	M	T	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:798:M:V	SCN9A	798	M	V	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Benign/Likely benign	0.001858	3	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not provided;not specified	unknown	NA	NA	0	0	VariationID_194498
SCN9A:807:G:D	SCN9A	807	G	D	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:807:G:V	SCN9A	807	G	V	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Likely benign	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_436675
SCN9A:808:W:R	SCN9A	808	W	R	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001225	2	not specified	unknown	NA	NA	0	0	VariationID_499529
SCN9A:813:S:G	SCN9A	813	S	G	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Benign/Likely benign	0.002708	3	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not provided	unknown	NA	NA	0	0	VariationID_331982
SCN9A:813:S:G	SCN9A	813	S	G	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.002708	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:821:V:M	SCN9A	821	V	M	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002813	0	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not specified	unknown	NA	NA	0	0	VariationID_254095
SCN9A:821:V:M	SCN9A	821	V	M	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002813	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:834:L:R	SCN9A	834	L	R	ENST00000409435;XM_005246757.1	Primary erythromelalgia	NA	gof	clinvar	unknown	Pathogenic	0	1	Primary erythromelalgia	maf_pathogenic	NA	NA	0	0	VariationID_21345
SCN9A:834:L:R	SCN9A	834	L	R	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	19800314
SCN9A:837:F:Y	SCN9A	837	F	Y	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	28990532,28990532
SCN9A:841:R:Q	SCN9A	841	R	Q	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.142e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:856:I:V	SCN9A	856	I	V	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_440256
SCN9A:859:I:T	SCN9A	859	I	T	ENST00000409435;XM_005246757.1	Primary erythromelalgia	NA	gof	clinvar	unknown	Pathogenic	0	1	Primary erythromelalgia	maf_pathogenic	NA	NA	0	0	VariationID_6350
SCN9A:859:I:T	SCN9A	859	I	T	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	14985375,15385606,18347287,26920677,25993546,25993546,21115638,23383113,N/A
SCN9A:867:G:D	SCN9A	867	G	D	ENST00000409435;XM_005246757.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_246105
SCN9A:867:G:D	SCN9A	867	G	D	ENST00000409435;XM_005246757.1	Pain%2C dysautonomia & acromesomelia	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Pain%2C dysautonomia & acromesomelia	maf_pathogenic	NA	NA	0	1	22286749,26156380,22035805,27821467
SCN9A:867:G:R	SCN9A	867	G	R	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	28381558
SCN9A:869:L:F	SCN9A	869	L	F	ENST00000409435;XM_005246757.1	Primary erythromelalgia	NA	gof	clinvar	unknown	Pathogenic	0	1	Primary erythromelalgia	maf_pathogenic	NA	NA	0	0	VariationID_6364
SCN9A:869:L:F	SCN9A	869	L	F	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	15955112,21705421,24866741,16392115,22365309
SCN9A:869:L:H	SCN9A	869	L	H	ENST00000409435;XM_005246757.1	Primary erythromelalgia	NA	gof	clinvar	unknown	Pathogenic	0	1	Primary erythromelalgia	maf_pathogenic	NA	NA	0	0	VariationID_6349
SCN9A:869:L:H	SCN9A	869	L	H	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	14985375,15385606,16702558,21115638,24401712
SCN9A:874:A:P	SCN9A	874	A	P	ENST00000409435;XM_005246757.1	Primary erythromelalgia	NA	gof	clinvar	unknown	Pathogenic	0	1	Primary erythromelalgia	maf_pathogenic	NA	NA	0	0	VariationID_21346
SCN9A:874:A:P	SCN9A	874	A	P	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	17135418
SCN9A:882:V:L	SCN9A	882	V	L	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_448291
SCN9A:883:V:G	SCN9A	883	V	G	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	19162012
SCN9A:884:G:S	SCN9A	884	G	S	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	3.251e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:886:Q:E	SCN9A	886	Q	E	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	22033523,25575597
SCN9A:887:L:F	SCN9A	887	L	F	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.064e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:907:R:Q	SCN9A	907	R	Q	ENST00000409435;XM_005246757.1	Congenital indifference to pain	NA	unknown	hgmd	(Likely)pathogenic	DM	4.066e-06	2	Congenital indifference to pain	maf_pathogenic	NA	NA	0	1	20635406
SCN9A:907:R:W	SCN9A	907	R	W	ENST00000409435;XM_005246757.1	not provided	NA	unknown	clinvar	unknown	Likely pathogenic	2.846e-05	2	not provided	unknown	NA	NA	0	0	VariationID_421969
SCN9A:910:M:I	SCN9A	910	M	I	ENST00000409435;XM_005246757.1	Congenital indifference to pain%2C partial	NA	unknown	hgmd	(Likely)pathogenic	DM	4.066e-06	2	Congenital indifference to pain%2C partial	maf_pathogenic	NA	NA	0	1	21939494
SCN9A:939:A:T	SCN9A	939	A	T	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_418483
SCN9A:939:A:T	SCN9A	939	A	T	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:943:M:L	SCN9A	943	M	L	ENST00000409435;XM_005246757.1	Congenital Indifference to Pain;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Small fiber neuropathy;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.03651	3	Congenital Indifference to Pain;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Small fiber neuropathy;not specified	unknown	NA	NA	0	0	VariationID_94089
SCN9A:943:M:L	SCN9A	943	M	L	ENST00000409435;XM_005246757.1	Congenital indifference to pain%2C partial	NA	unknown	hgmd	unknown	DM	0.03651	1	Congenital indifference to pain%2C partial	unknown	NA	NA	0	0	21939494,21698661,21698661,27535533,26284228,23450472
SCN9A:943:M:L	SCN9A	943	M	L	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.03651	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:951:V:A	SCN9A	951	V	A	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Likely benign	0.0002687	2	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	unknown	NA	NA	0	0	VariationID_331979
SCN9A:975:N:S	SCN9A	975	N	S	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	1.76e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471104
SCN9A:990:I:V	SCN9A	990	I	V	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:992:V:A	SCN9A	992	V	A	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_393158
SCN9A:1001:Y:C	SCN9A	1001	Y	C	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0006226	0	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not provided;not specified	unknown	NA	NA	0	0	VariationID_130260
SCN9A:1001:Y:C	SCN9A	1001	Y	C	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0006226	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1002:V:L	SCN9A	1002	V	L	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.03296	0	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Primary erythromelalgia;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;Small fiber neuropathy;not specified	unknown	NA	NA	0	0	VariationID_94090
SCN9A:1002:V:L	SCN9A	1002	V	L	ENST00000409435;XM_005246757.1	Small fibre neuropathy	NA	unknown	hgmd	unknown	DM	0.03296	1	Small fibre neuropathy	unknown	NA	NA	0	0	21698661,27535533,26284228
SCN9A:1002:V:L	SCN9A	1002	V	L	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.03296	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1007:R:C	SCN9A	1007	R	C	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	clinvar	unknown	Pathogenic/Likely pathogenic	1.339e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder	unknown	NA	NA	0	0	VariationID_6356
SCN9A:1007:R:C	SCN9A	1007	R	C	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	hgmd	unknown	DM	1.339e-05	2	Paroxysmal extreme pain disorder	unknown	NA	NA	0	0	17145499
SCN9A:1007:R:H	SCN9A	1007	R	H	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002088	0	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not specified	unknown	NA	NA	0	0	VariationID_331974
SCN9A:1007:R:H	SCN9A	1007	R	H	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0002088	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1017:K:N	SCN9A	1017	K	N	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0003838	0	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_246380
SCN9A:1032:T:A	SCN9A	1032	T	A	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1033:K:R	SCN9A	1033	K	R	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1042:T:I	SCN9A	1042	T	I	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	2.446e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471106
SCN9A:1046:M:I	SCN9A	1046	M	I	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471107
SCN9A:1046:M:I	SCN9A	1046	M	I	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1053:L:F	SCN9A	1053	L	F	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	3.257e-05	2	not specified	unknown	NA	NA	0	0	VariationID_194736
SCN9A:1054:K:N	SCN9A	1054	K	N	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1056:K:R	SCN9A	1056	K	R	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Likely benign	8.954e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_415031
SCN9A:1076:G:D	SCN9A	1076	G	D	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1089:V:M	SCN9A	1089	V	M	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	maf_pathogenic	NA	NA	0	0	VariationID_331973
SCN9A:1091:I:V	SCN9A	1091	I	V	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.188e-06	2	not specified	unknown	NA	NA	0	0	VariationID_448292
SCN9A:1095:E:D	SCN9A	1095	E	D	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471109
SCN9A:1095:E:D	SCN9A	1095	E	D	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1096:S:Y	SCN9A	1096	S	Y	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1097:D:N	SCN9A	1097	D	N	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.235e-06	2	not specified	unknown	NA	NA	0	0	VariationID_451150
SCN9A:1101:M:V	SCN9A	1101	M	V	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.652e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1108:S:G	SCN9A	1108	S	G	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.205e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_234826
SCN9A:1110:S:L	SCN9A	1110	S	L	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001797	0	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_423474
SCN9A:1115:S:G	SCN9A	1115	S	G	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Likely benign	0.0003364	2	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	unknown	NA	NA	0	0	VariationID_331972
SCN9A:1115:S:G	SCN9A	1115	S	G	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0003364	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1117:V:L	SCN9A	1117	V	L	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Uncertain significance	9.11e-05	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_194737
SCN9A:1117:V:L	SCN9A	1117	V	L	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	9.11e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1121:R:P	SCN9A	1121	R	P	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	8.577e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_408585
SCN9A:1121:R:Q	SCN9A	1121	R	Q	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Benign/Likely benign	0.02057	3	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not specified	unknown	NA	NA	0	0	VariationID_130262
SCN9A:1121:R:Q	SCN9A	1121	R	Q	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.02057	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1121:R:W	SCN9A	1121	R	W	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.003648	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not provided;not specified	unknown	NA	NA	0	0	VariationID_194839
SCN9A:1121:R:W	SCN9A	1121	R	W	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.003648	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1123:S:N	SCN9A	1123	S	N	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Likely benign	8.162e-05	2	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	unknown	NA	NA	0	0	VariationID_331971
SCN9A:1134:L:F	SCN9A	1134	L	F	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.0004325	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_258885
SCN9A:1134:L:F	SCN9A	1134	L	F	ENST00000409435;XM_005246757.1	Dravet syndrome	NA	unknown	hgmd	unknown	DM	0.0004325	1	Dravet syndrome	unknown	NA	NA	0	0	19763161
SCN9A:1134:L:F	SCN9A	1134	L	F	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0004325	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1135:P:S	SCN9A	1135	P	S	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0001959	0	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_167658
SCN9A:1135:P:S	SCN9A	1135	P	S	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001959	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1146:M:K	SCN9A	1146	M	K	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1149:D:E	SCN9A	1149	D	E	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.157e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1150:E:K	SCN9A	1150	E	K	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	2.447e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471112
SCN9A:1154:C:F	SCN9A	1154	C	F	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.224e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1155:F:Y	SCN9A	1155	F	Y	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Uncertain significance	8.158e-06	3	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not specified	unknown	NA	NA	0	0	VariationID_289499
SCN9A:1156:T:I	SCN9A	1156	T	I	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	7.343e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_408573
SCN9A:1161:W:R	SCN9A	1161	W	R	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Benign	0.8795	2	not specified	unknown	NA	NA	0	0	VariationID_440255
SCN9A:1166:C:Y	SCN9A	1166	C	Y	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Uncertain significance	6.492e-06	3	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	maf_pathogenic	NA	NA	0	0	VariationID_331969
SCN9A:1168:V:F	SCN9A	1168	V	F	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471115
SCN9A:1169:N:T	SCN9A	1169	N	T	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.0004943	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_194947
SCN9A:1169:N:T	SCN9A	1169	N	T	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0004943	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1170:I:T	SCN9A	1170	I	T	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not provided;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0004032	0	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not provided;not specified	unknown	NA	NA	0	0	VariationID_130263
SCN9A:1171:E:Q	SCN9A	1171	E	Q	ENST00000409435;XM_005246757.1	Dravet syndrome	NA	unknown	hgmd	unknown	DM	0	1	Dravet syndrome	maf_pathogenic	NA	NA	0	0	19763161
SCN9A:1180:N:D	SCN9A	1180	N	D	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.791e-05	2	not specified	unknown	NA	NA	0	0	VariationID_448293
SCN9A:1189:V:G	SCN9A	1189	V	G	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.99e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1200:L:F	SCN9A	1200	L	F	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.525e-06	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_430173
SCN9A:1200:L:F	SCN9A	1200	L	F	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.525e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1201:M:T	SCN9A	1201	M	T	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1247:A:E	SCN9A	1247	A	E	ENST00000409435;XM_005246757.1	Congenital indifference to pain	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Congenital indifference to pain	maf_pathogenic	NA	NA	0	1	25995458
SCN9A:1251:K:R	SCN9A	1251	K	R	ENST00000409435;XM_005246757.1	Childhood absence epilepsy	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Childhood absence epilepsy	maf_pathogenic	NA	NA	0	1	28074849
SCN9A:1252:T:A	SCN9A	1252	T	A	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	maf_pathogenic	NA	NA	0	0	VariationID_331968
SCN9A:1256:N:S	SCN9A	1256	N	S	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.004435	0	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not provided;not specified	unknown	NA	NA	0	0	VariationID_130265
SCN9A:1256:N:S	SCN9A	1256	N	S	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	unknown	DM	0.004435	1	Erythromelalgia%2C primary	unknown	NA	NA	0	0	28440294
SCN9A:1256:N:S	SCN9A	1256	N	S	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.004435	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1278:L:V	SCN9A	1278	L	V	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.00117	0	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not provided;not specified	unknown	NA	NA	0	0	VariationID_195592
SCN9A:1278:L:V	SCN9A	1278	L	V	ENST00000409435;XM_005246757.1	Dravet syndrome	NA	unknown	hgmd	unknown	DM	0.00117	1	Dravet syndrome	unknown	NA	NA	0	0	19763161,28440294,23895530,26284228
SCN9A:1278:L:V	SCN9A	1278	L	V	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.00117	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1290:R:W	SCN9A	1290	R	W	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	9.052e-06	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471117
SCN9A:1309:V:D	SCN9A	1309	V	D	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	clinvar	unknown	Pathogenic	0	1	Paroxysmal extreme pain disorder	maf_pathogenic	NA	NA	0	0	VariationID_6357
SCN9A:1309:V:D	SCN9A	1309	V	D	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paroxysmal extreme pain disorder	maf_pathogenic	NA	NA	1	1	17145499
SCN9A:1309:V:F	SCN9A	1309	V	F	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	clinvar	unknown	Pathogenic	0	1	Paroxysmal extreme pain disorder	maf_pathogenic	NA	NA	0	0	VariationID_6358
SCN9A:1309:V:F	SCN9A	1309	V	F	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paroxysmal extreme pain disorder	maf_pathogenic	NA	NA	1	1	17145499,20429905,18599537
SCN9A:1310:V:F	SCN9A	1310	V	F	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	clinvar	unknown	Pathogenic	0	1	Paroxysmal extreme pain disorder	maf_pathogenic	NA	NA	0	0	VariationID_6359
SCN9A:1310:V:F	SCN9A	1310	V	F	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paroxysmal extreme pain disorder	maf_pathogenic	NA	NA	1	1	17145499,18599537,21115638
SCN9A:1315:I:T	SCN9A	1315	I	T	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Uncertain significance	3.253e-05	3	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not specified	unknown	NA	NA	0	0	VariationID_331965
SCN9A:1319:P:L	SCN9A	1319	P	L	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	20429905
SCN9A:1327:V:A	SCN9A	1327	V	A	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	23383113,23376079,27653502
SCN9A:1337:I:L	SCN9A	1337	I	L	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.468e-05	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_450353
SCN9A:1341:N:H	SCN9A	1341	N	H	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	8.123e-06	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471121
SCN9A:1348:Y:C	SCN9A	1348	Y	C	ENST00000409435;XM_005246757.1	not provided	NA	unknown	clinvar	unknown	Uncertain significance	8.122e-06	2	not provided	unknown	NA	NA	0	0	VariationID_130268
SCN9A:1352:N:T	SCN9A	1352	N	T	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471122
SCN9A:1358:R:Q	SCN9A	1358	R	Q	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0.0001137	2	not specified	unknown	NA	NA	0	0	VariationID_195676
SCN9A:1358:R:Q	SCN9A	1358	R	Q	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.0001137	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1383:K:R	SCN9A	1383	K	R	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.625e-05	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_212137
SCN9A:1386:K:Q	SCN9A	1386	K	Q	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.219e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1393:G:R	SCN9A	1393	G	R	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.628e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1397:L:P	SCN9A	1397	L	P	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471125
SCN9A:1402:V:A	SCN9A	1402	V	A	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	6.583e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_408582
SCN9A:1409:T:M	SCN9A	1409	T	M	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	5.506e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1430:S:N	SCN9A	1430	S	N	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	1.885e-05	2	not specified	unknown	NA	NA	0	0	VariationID_246147
SCN9A:1435:I:M	SCN9A	1435	I	M	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.019e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1439:V:I	SCN9A	1439	V	I	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Likely benign	0.001572	3	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not specified	unknown	NA	NA	0	0	VariationID_287829
SCN9A:1439:V:I	SCN9A	1439	V	I	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.001572	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1456:I:M	SCN9A	1456	I	M	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471128
SCN9A:1460:F:V	SCN9A	1460	F	V	ENST00000409435;XM_005246757.1	Primary erythromelalgia	NA	gof	clinvar	unknown	Pathogenic	0	1	Primary erythromelalgia	maf_pathogenic	NA	NA	0	0	VariationID_6352
SCN9A:1460:F:V	SCN9A	1460	F	V	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	15958509,21289137,26920677
SCN9A:1472:I:T	SCN9A	1472	I	T	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	clinvar	unknown	Pathogenic	0	1	Paroxysmal extreme pain disorder	maf_pathogenic	NA	NA	0	0	VariationID_6360
SCN9A:1472:I:T	SCN9A	1472	I	T	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paroxysmal extreme pain disorder	maf_pathogenic	NA	NA	1	1	17145499,19633428,18599537,20038812,21115638
SCN9A:1473:F:V	SCN9A	1473	F	V	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paroxysmal extreme pain disorder	maf_pathogenic	NA	NA	1	1	17145499
SCN9A:1475:T:I	SCN9A	1475	T	I	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	clinvar	unknown	Pathogenic	0	1	Paroxysmal extreme pain disorder	maf_pathogenic	NA	NA	0	0	VariationID_6361
SCN9A:1475:T:I	SCN9A	1475	T	I	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paroxysmal extreme pain disorder	maf_pathogenic	NA	NA	1	1	17145499
SCN9A:1477:E:V	SCN9A	1477	E	V	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471131
SCN9A:1492:K:N	SCN9A	1492	K	N	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_245847
SCN9A:1541:Q:K	SCN9A	1541	Q	K	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	maf_pathogenic	NA	NA	0	0	VariationID_424146
SCN9A:1543:M:I	SCN9A	1543	M	I	ENST00000409435;XM_005246757.1	Small fibre neuropathy	NA	unknown	hgmd	(Likely)pathogenic	DM	4.08e-06	2	Small fibre neuropathy	maf_pathogenic	NA	NA	0	1	21698661
SCN9A:1549:W:R	SCN9A	1549	W	R	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;not provided;not specified	NA	unknown	clinvar	unknown	Benign/Likely benign	0.002033	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;not provided;not specified	unknown	NA	NA	0	0	VariationID_234412
SCN9A:1549:W:R	SCN9A	1549	W	R	ENST00000409435;XM_005246757.1	Chronic non-paroxysmal neuropathic pain	NA	unknown	hgmd	unknown	DM	0.002033	2	Chronic non-paroxysmal neuropathic pain	unknown	NA	NA	0	0	21094958,23292638,23895530,26284228
SCN9A:1549:W:R	SCN9A	1549	W	R	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.002033	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1576:V:G	SCN9A	1576	V	G	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1607:T:I	SCN9A	1607	T	I	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not provided	NA	unknown	clinvar	unknown	Uncertain significance	5.279e-05	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not provided	unknown	NA	NA	0	0	VariationID_130271
SCN9A:1618:G:R	SCN9A	1618	G	R	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paroxysmal extreme pain disorder	maf_pathogenic	NA	NA	1	1	21079636
SCN9A:1623:L:P	SCN9A	1623	L	P	ENST00000409435;XM_005246757.1	not provided	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	not provided	maf_pathogenic	NA	NA	0	1	VariationID_430091
SCN9A:1623:L:P	SCN9A	1623	L	P	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paroxysmal extreme pain disorder	maf_pathogenic	NA	NA	1	1	25285947,25285947
SCN9A:1623:L:R	SCN9A	1623	L	R	ENST00000409435;XM_005246757.1	DD_noE	NA	unknown	Heyneetal_NatGen18_DNV	(Likely)pathogenic	unknown	0	2	DD_noE	maf_pathogenic	NA	NA	0	1	29942082
SCN9A:1624:V:I	SCN9A	1624	V	I	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.121e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1626:G:A	SCN9A	1626	G	A	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	3.655e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471136
SCN9A:1631:R:L	SCN9A	1631	R	L	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	4.061e-05	2	not specified	unknown	NA	NA	0	0	VariationID_426795
SCN9A:1631:R:L	SCN9A	1631	R	L	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.061e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1635:F:S	SCN9A	1635	F	S	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_246028
SCN9A:1638:M:K	SCN9A	1638	M	K	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paroxysmal extreme pain disorder	maf_pathogenic	NA	NA	1	1	17145499,18803825,21115638
SCN9A:1643:A:E	SCN9A	1643	A	E	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	clinvar	(Likely)pathogenic	Pathogenic	0	3	Paroxysmal extreme pain disorder;not provided	maf_pathogenic	NA	NA	1	1	VariationID_245903
SCN9A:1643:A:E	SCN9A	1643	A	E	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paroxysmal extreme pain disorder / Erythermalgia%2C primary	maf_pathogenic	NA	NA	1	1	18945915,24311784
SCN9A:1643:A:G	SCN9A	1643	A	G	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	27413160
SCN9A:1643:A:T	SCN9A	1643	A	T	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	24311784
SCN9A:1655:M:I	SCN9A	1655	M	I	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_246334
SCN9A:1659:A:T	SCN9A	1659	A	T	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.121e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1672:E:G	SCN9A	1672	E	G	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.218e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1677:D:V	SCN9A	1677	D	V	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	3	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	maf_pathogenic	NA	NA	0	0	VariationID_448295
SCN9A:1696:T:S	SCN9A	1696	T	S	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_246177
SCN9A:1714:D:N	SCN9A	1714	D	N	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	2.031e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471139
SCN9A:1718:K:E	SCN9A	1718	K	E	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	2.03e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_408577
SCN9A:1719:K:N	SCN9A	1719	K	N	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.122e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1722:P:S	SCN9A	1722	P	S	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1729:D:E	SCN9A	1729	D	E	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	6.904e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1730:C:R	SCN9A	1730	C	R	ENST00000409435;XM_005246757.1	Congenital indifference to pain	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Congenital indifference to pain	maf_pathogenic	NA	NA	0	1	20692858
SCN9A:1733:P:S	SCN9A	1733	P	S	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	4.061e-06	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471140
SCN9A:1736:G:A	SCN9A	1736	G	A	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.122e-06	2	not specified	unknown	NA	NA	0	0	VariationID_393040
SCN9A:1738:F:V	SCN9A	1738	F	V	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.061e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1751:V:L	SCN9A	1751	V	L	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_245703
SCN9A:1751:V:L	SCN9A	1751	V	L	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Paroxysmal extreme pain disorder	maf_pathogenic	NA	NA	1	1	25903274
SCN9A:1757:A:G	SCN9A	1757	A	G	ENST00000409435;XM_005246757.1	Erythromelalgia%2C primary	NA	gof	hgmd	(Likely)pathogenic	DM	0	2	Erythromelalgia%2C primary	maf_pathogenic	NA	NA	1	1	23292638
SCN9A:1772:E:D	SCN9A	1772	E	D	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471142
SCN9A:1780:E:K	SCN9A	1780	E	K	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1786:W:R	SCN9A	1786	W	R	ENST00000409435;XM_005246757.1	Congenital indifference to pain	NA	unknown	hgmd	(Likely)pathogenic	DM	0	2	Congenital indifference to pain	maf_pathogenic	NA	NA	0	1	25995458
SCN9A:1801:K:N	SCN9A	1801	K	N	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	1.218e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471144
SCN9A:1807:A:G	SCN9A	1807	A	G	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_246589
SCN9A:1833:G:R	SCN9A	1833	G	R	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1833:G:S	SCN9A	1833	G	S	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.121e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1852:E:A	SCN9A	1852	E	A	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.061e-06	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1852:E:G	SCN9A	1852	E	G	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471145
SCN9A:1854:G:E	SCN9A	1854	G	E	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_234413
SCN9A:1855:E:K	SCN9A	1855	E	K	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_234834
SCN9A:1872:P:L	SCN9A	1872	P	L	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	0	2	not specified	maf_pathogenic	NA	NA	0	0	VariationID_246528
SCN9A:1886:R:Q	SCN9A	1886	R	Q	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	1.624e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471148
SCN9A:1886:R:Q	SCN9A	1886	R	Q	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	1.624e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1900:Y:F	SCN9A	1900	Y	F	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	2.03e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471149
SCN9A:1904:R:H	SCN9A	1904	R	H	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0003533	0	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not provided;not specified	unknown	NA	NA	0	0	VariationID_234820
SCN9A:1917:I:T	SCN9A	1917	I	T	ENST00000409435;XM_005246757.1	not specified	NA	unknown	clinvar	unknown	Uncertain significance	8.123e-06	2	not specified	unknown	NA	NA	0	0	VariationID_94091
SCN9A:1917:I:T	SCN9A	1917	I	T	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	8.123e-06	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1919:D:G	SCN9A	1919	D	G	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Benign/Likely benign	0.06138	3	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not specified	unknown	NA	NA	0	0	VariationID_94092
SCN9A:1919:D:G	SCN9A	1919	D	G	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0.06138	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1924:D:A	SCN9A	1924	D	A	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1927:L:F	SCN9A	1927	L	F	ENST00000409435;XM_005246757.1	Paroxysmal_pain	NA	unknown	clinvar	unknown	Benign/Likely benign	0.0007688	3	Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not provided;not specified	unknown	NA	NA	0	0	VariationID_196020
SCN9A:1931:D:H	SCN9A	1931	D	H	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	0.0002772	0	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_448296
SCN9A:1939:E:D	SCN9A	1939	E	D	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_408587
SCN9A:1940:N:K	SCN9A	1940	N	K	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	0	VariationID_471155
SCN9A:1940:N:K	SCN9A	1940	N	K	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	0	unknown	DEE	maf_pathogenic	NA	NA	0	0	Heyne_etal_bioRxiv2019
SCN9A:1959:D:A	SCN9A	1959	D	A	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	(Likely)pathogenic	Likely pathogenic	0	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	maf_pathogenic	NA	NA	0	1	VariationID_408574
SCN9A:1976:K:E	SCN9A	1976	K	E	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	1.241e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_408575
SCN9A:1983:S:R	SCN9A	1983	S	R	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	NA	unknown	clinvar	unknown	Conflicting interpretations of pathogenicity	7.468e-05	0	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not specified	unknown	NA	NA	0	0	VariationID_246381
SCN9A:1986:S:G	SCN9A	1986	S	G	ENST00000409435;XM_005246757.1	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	NA	unknown	clinvar	unknown	Uncertain significance	4.439e-05	2	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	unknown	NA	NA	0	0	VariationID_471159
SCN9A:1986:S:G	SCN9A	1986	S	G	ENST00000409435;XM_005246757.1	DEE	NA	unknown	Heyneetal_GiM19	unknown	unknown	4.439e-05	unknown	DEE	unknown	NA	NA	0	0	Heyne_etal_bioRxiv2019