Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His)	SNV Germline	Chr2:165992332	Pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Condition: not provided Autosomal dominant epilepsy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA256584	rs_121918622	6 SubmittersRCV000013742 RCV000059521 RCV000484119 RCV001192959 RCV006461146
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)	SNV Germline	Chr2:166038098	Pathogenic/Likely pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 1 Condition: not provided Severe myoclonic epilepsy in infancy Inborn genetic diseases Seizure SCN1A-related disorder Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA256587	rs_121918623	11 SubmittersRCV000013743 RCV000059471 RCV001311218 RCV001253103 RCV002316193 RCV004554602 RCV004724740 RCV006461147
NM_001165963.4(SCN1A):c.4057G>C (p.Val1353Leu)	SNV Germline	Chr2:166002699	Pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 1 Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA256593	rs_121917954	3 SubmittersRCV000013745 RCV000059409 RCV003992150
NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met)	SNV Germline	Chr2:165992307	Pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 1 Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA256596	rs_121917955	4 SubmittersRCV000013746 RCV000059433 RCV003992151 RCV006461148
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)	SNV Germline	Chr2:166052882	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Intellectual disability Inborn genetic diseases Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Febrile seizures, familial, 3a Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA273115	rs_121918624	16 SubmittersRCV000032604 RCV000188841 RCV000763461 RCV001257707 RCV002316194 RCV003388823 RCV005243098 RCV006461149
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe)	SNV Germline	Chr2:166036521	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA281911	rs_121918625	4 SubmittersRCV000032605 RCV006461150
NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys)	SNV Germline	Chr2:165998049	Pathogenic	Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA256608	rs_121918628	3 SubmittersRCV000013753 RCV003992152
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)	SNV Germline	Chr2:165992149	Pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA256611	rs_121918629	4 SubmittersRCV000013755 RCV000013754 RCV006461152
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe)	SNV Germline	Chr2:165994167	Pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	No Assertion Criteria Provided	CA256614	rs_121918630	3 SubmittersRCV000013756 RCV000013757
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr)	SNV Germline	Chr2:166056450	Pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Febrile seizures, familial, 3a Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA256617	rs_121918631	5 SubmittersRCV000013758 RCV000255880 RCV000993711 RCV003595856 RCV003992153
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu)	SNV Germline	Chr2:165996099	Pathogenic	Migraine, familial hemiplegic, 3 Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA256620	rs_121918632	6 SubmittersRCV000013765 RCV001090363 RCV003992154 RCV006461154
NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu)	SNV Germline	Chr2:165992269	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA281748	rs_397514458	2 SubmittersRCV000022764 RCV006461216
NM_001165963.4(SCN1A):c.2584C>G (p.Arg862Gly)	SNV Germline	Chr2:166039428	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA281752	rs_397514459	1 SubmittersRCV000022765
NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr)	SNV Germline	Chr2:166047725	Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Single Submitter	CA284856	rs_121917923	2 SubmittersRCV000059372 RCV000997285
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln)	SNV Germline	Chr2:166047667	Pathogenic/Likely pathogenic	Generalized epilepsy with febrile seizures plus, type 1 Severe myoclonic epilepsy in infancy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA266086	rs_121917957	7 SubmittersRCV000059374 RCV000180936 RCV000188861 RCV001775078 RCV006461352
NM_001165963.4(SCN1A):c.1177C>A (p.Arg393Ser)	SNV Germline	Chr2:166046970	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA284865	rs_121917929	2 SubmittersRCV000059376 RCV006461353
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)	SNV Germline	Chr2:166046970	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Seizure Mild intellectual disability Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 SCN1A-related disorder Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA284868	rs_121917929	11 SubmittersRCV000059377 RCV000188854 RCV000857236 RCV002262611 RCV005867845 RCV006606222
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)	SNV Germline	Chr2:166046969	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Migraine, familial hemiplegic, 3 Seizure Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA284871	rs_121917927	16 SubmittersRCV000059378 RCV000188863 RCV001198232 RCV005624314 RCV006607041
NM_001165963.4(SCN1A):c.1207T>C (p.Phe403Leu)	SNV Germline	Chr2:166046940	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Inborn genetic diseases Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA284874	rs_121917966	3 SubmittersRCV000059380 RCV002345371 RCV006461354
NM_001165963.4(SCN1A):c.1237T>A (p.Tyr413Asn)	SNV Unknown	Chr2:166046910	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA284877	rs_121917967	3 SubmittersRCV000059381
NM_001165963.4(SCN1A):c.1876A>G (p.Ser626Gly)	SNV Germline	Chr2:166043836	Pathogenic	Generalized epilepsy Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA145235	rs_121917990	2 SubmittersRCV000059384 RCV000180909
NM_001165963.4(SCN1A):c.2435C>G (p.Thr812Arg)	SNV Germline	Chr2:166039577	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA284895	rs_121917941	2 SubmittersRCV000059390 RCV006461356
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys)	SNV Germline	Chr2:166073371	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA284901	rs_121917964	5 SubmittersRCV000059392 RCV000255485 RCV000763463 RCV006461357
NM_001165963.4(SCN1A):c.2825T>C (p.Leu942Pro)	SNV Germline	Chr2:166037897	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA284904	rs_121917943	2 SubmittersRCV000059393 RCV006555396
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)	SNV Germline	Chr2:166037885	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Seizure Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases Developmental and epileptic encephalopathy 6B Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA284910	rs_121917971	13 SubmittersRCV000059395 RCV000378734 RCV001264404 RCV001004709 RCV002433566 RCV004595905 RCV006555397
NM_001165963.4(SCN1A):c.2849G>A (p.Gly950Glu)	SNV Germline	Chr2:166037873	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Single Submitter	CA284913	rs_121917972	2 SubmittersRCV000059396 RCV000429753
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)	SNV Germline	Chr2:166058652	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Migraine, familial hemiplegic, 3 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA284919	rs_121917965	9 SubmittersRCV000059399 RCV000357692 RCV001199316 RCV006555398
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)	SNV Germline	Chr2:166058651	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA273119	rs_121917918	12 SubmittersRCV000059400 RCV000188829 RCV001197275 RCV004796001 RCV005638416 RCV006555399
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)	SNV Germline	Chr2:166013829	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA284925	rs_121917963	3 SubmittersRCV000059403 RCV002054912 RCV006461359
NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg)	SNV Germline	Chr2:166013752	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA284928	rs_121917911	2 SubmittersRCV000059404 RCV006461360
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)	SNV Germline	Chr2:166012274	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Condition: not provided Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases Early-infantile DEE	Criteria Provided Conflicting Classifications	CA234849	rs_121917973	8 SubmittersRCV000059405 RCV000723903 RCV001836728 RCV005480321 RCV006609485
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)	SNV Germline	Chr2:166012254	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA284931	rs_121917912	7 SubmittersRCV000059406 RCV000188926 RCV001836729 RCV004796002 RCV006461361
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)	SNV Germline	Chr2:166009797	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Condition: not provided not specified Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases SCN1A-related disorder Early-infantile DEE	Criteria Provided Conflicting Classifications	CA231476	rs_121917910	16 SubmittersRCV000059407 RCV000118242 RCV000188828 RCV001133131 RCV001133132 RCV002313742 RCV004542732 RCV006555400
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met)	SNV Germline	Chr2:166002753	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Inborn genetic diseases Condition: not provided Early-infantile DEE	Criteria Provided Conflicting Classifications	CA284934	rs_121917960	5 SubmittersRCV000059408 RCV003352765 RCV006272366 RCV006461362
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)	SNV Germline	Chr2:166002588	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Inborn genetic diseases Seizure Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA284940	rs_121917986	11 SubmittersRCV000059411 RCV000254970 RCV002326783 RCV006261948 RCV006461363
NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly)	SNV Germline	Chr2:166002570	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA284943	rs_121917987	2 SubmittersRCV000059412 RCV006461364
NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys)	SNV Germline	Chr2:166002491	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA284949	rs_121917913	3 SubmittersRCV000059414 RCV005000993 RCV006607976
NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro)	SNV Germline	Chr2:165999740	Likely pathogenic	Severe myoclonic epilepsy in infancy Inborn genetic diseases	Criteria Provided Single Submitter	CA284958	rs_121917974	2 SubmittersRCV000059417 RCV001267274
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu)	SNV Germline	Chr2:165998162	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy See cases Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA284961	rs_121917945	4 SubmittersRCV000059418 RCV003224861 RCV006461365
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser)	SNV Germline	Chr2:165994370	Conflicting classifications of pathogenicity	Focal epilepsy Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Conflicting Classifications	CA145246	rs_121917992	6 SubmittersRCV000059424 RCV000726740 RCV001333850 RCV006555402
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)	SNV Germline	Chr2:165994365	Pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Early-infantile DEE Condition: not provided Autosomal dominant SCN1A-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA284976	rs_121917975	6 SubmittersRCV000059425 RCV001249684 RCV006461366 RCV005251055 RCV006554448
NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg)	SNV Germline	Chr2:165994236	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA284979	rs_121917919	3 SubmittersRCV000059426 RCV000188974 RCV006607042
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)	SNV Germline	Chr2:165994212	Pathogenic/Likely pathogenic	Focal epilepsy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Autosomal dominant epilepsy Seizure Inborn genetic diseases Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA145250	rs_121917993	13 SubmittersRCV000059427 RCV000188978 RCV001031013 RCV001253159 RCV002265592 RCV005624315 RCV006362051 RCV006607043
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)	SNV Germline	Chr2:165994176	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA284982	rs_121917915	6 SubmittersRCV000059428 RCV005000994 RCV006607044
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met)	SNV Germline	Chr2:165992387	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Conflicting Classifications	CA284988	rs_121917914	3 SubmittersRCV000059430 RCV001781396 RCV006461367
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)	SNV Germline	Chr2:165992341	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Inborn genetic diseases Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA284991	rs_121917976	8 SubmittersRCV000059432 RCV000188986 RCV000763457 RCV001198988 RCV002316217 RCV006461369
NM_001165963.4(SCN1A):c.5141T>G (p.Met1714Arg)	SNV Germline	Chr2:165992134	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Single Submitter	CA285003	rs_121917949	2 SubmittersRCV000059439 RCV004566910
NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg)	SNV Germline	Chr2:165992129	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285006	rs_121917926	4 SubmittersRCV000059440 RCV000188987 RCV006555403
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu)	SNV Unknown	Chr2:165991990	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA285012	rs_121917950	2 SubmittersRCV000059442
NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe)	SNV Germline	Chr2:165991957	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA285015	rs_121917951	2 SubmittersRCV000059443 RCV006461371
NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr)	SNV Germline	Chr2:165991936	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA285018	rs_121917952	2 SubmittersRCV000059444 RCV006461372
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)	SNV Germline	Chr2:165991928	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285021	rs_121917980	10 SubmittersRCV000059445 RCV000188999 RCV001849308 RCV002468563 RCV002490666 RCV006461373
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)	SNV Germline	Chr2:165991927	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285024	rs_121917921	6 SubmittersRCV000059446 RCV000189000 RCV006461374
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr)	SNV Germline	Chr2:165991510	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA285030	rs_121917981	3 SubmittersRCV000189020 RCV000059449 RCV002470754
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)	SNV Germline	Chr2:166054660	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Inborn genetic diseases Seizure Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Febrile seizures, familial, 3a Autosomal dominant epilepsy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285033	rs_121917935	13 SubmittersRCV000059451 RCV000522680 RCV004019070 RCV005624316 RCV005243110 RCV005406802 RCV006607045
NM_001165963.4(SCN1A):c.650C>A (p.Thr217Lys)	SNV Germline	Chr2:166052896	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285039	rs_121917936	3 SubmittersRCV000059453 RCV006461376
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	SNV Germline	Chr2:166052869	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Seizure Global developmental delay Developmental and epileptic encephalopathy 6B Developmental and epileptic encephalopathy, 6A Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285042	rs_121917984	16 SubmittersRCV000059454 RCV000188843 RCV000763460 RCV001003956 RCV001420531 RCV002470755 RCV003764743 RCV006606223
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser)	SNV Germline	Chr2:166052866	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285045	rs_121917937	8 SubmittersRCV000059455 RCV000188842 RCV006607046
NM_001165963.4(SCN1A):c.715G>A (p.Ala239Thr)	SNV Germline	Chr2:166051968	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285048	rs_121917985	3 SubmittersRCV000059456 RCV006555404
NM_001165963.4(SCN1A):c.716C>T (p.Ala239Val)	SNV Germline	Chr2:166051967	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA285051	rs_121917909	2 SubmittersRCV000059457
NM_001165963.4(SCN1A):c.838T>C (p.Trp280Arg)	SNV Germline	Chr2:166051845	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285054	rs_121917938	3 SubmittersRCV000059459 RCV006555405
NM_001165963.4(SCN1A):c.965G>T (p.Arg322Ile)	SNV Germline	Chr2:166048949	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA285057	rs_121917928	2 SubmittersRCV000059460 RCV006461378
NM_001165963.4(SCN1A):c.1028G>A (p.Gly343Asp)	SNV Germline	Chr2:166048886	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Inborn genetic diseases Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285060	rs_121918753	3 SubmittersRCV000059461 RCV002381374 RCV006461379
NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe)	SNV Germline	Chr2:166046931	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Conflicting Classifications	CA248047	rs_121918768	4 SubmittersRCV000059463 RCV000180562 RCV006461381
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)	SNV Germline	Chr2:166045080	Conflicting classifications of pathogenicity	Autism not specified Severe myoclonic epilepsy in infancy Epilepsy Self-limited epilepsy with centrotemporal spikes Severe myoclonic epilepsy in infancy Intellectual disability Condition: not provided Inborn genetic diseases SCN1A-related disorder Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Early-infantile DEE	Criteria Provided Conflicting Classifications	CA234872	rs_121918817	19 SubmittersRCV000059464 RCV000118239 RCV000578859 RCV000655983 RCV000789040 RCV001252611 RCV001705717 RCV002316218 RCV004537265 RCV005394297 RCV006606224
NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys)	SNV Germline	Chr2:166041277	Pathogenic	Generalized epilepsy with febrile seizures plus, type 1 Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA266101	rs_121918782	3 SubmittersRCV000059466 RCV003992173 RCV006461382
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)	SNV Germline	Chr2:166039427	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Conflicting Classifications	CA285069	rs_121918785	6 SubmittersRCV000059469 RCV000591357 RCV006461384
NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys)	SNV Germline	Chr2:166038098	Likely pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Single Submitter	CA285072	rs_121918623	2 SubmittersRCV000059470 RCV002247463
NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser)	SNV Germline	Chr2:166058684	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285078	rs_121918733	4 SubmittersRCV000059473 RCV000332135 RCV006461385
NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr)	SNV Germline	Chr2:166058681	Pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285081	rs_121918734	4 SubmittersRCV000059474 RCV003157390 RCV006461386
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)	SNV Germline	Chr2:166037931	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided SCN1A-related disorder Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA273369	rs_121918788	8 SubmittersRCV000059475 RCV000188897 RCV004542733 RCV006607047
NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr)	SNV Germline	Chr2:166037907	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA285087	rs_121918736	4 SubmittersRCV000059477 RCV001548630
NM_001165963.4(SCN1A):c.2831T>C (p.Val944Ala)	SNV Germline	Chr2:166037891	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA285093	rs_121917969	2 SubmittersRCV000059479 RCV006607048
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys)	SNV Germline	Chr2:166037886	Pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA269785	rs_121918775	10 SubmittersRCV000059481 RCV000118240 RCV000189085 RCV006607049
NM_001165963.4(SCN1A):c.2854T>G (p.Trp952Gly)	SNV Germline	Chr2:166037868	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA285099	rs_121918737	2 SubmittersRCV000059482
NM_001165963.4(SCN1A):c.2860G>A (p.Glu954Lys)	SNV Germline	Chr2:166037862	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA285102	rs_121918786	2 SubmittersRCV000059483 RCV006461387
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg)	SNV Germline	Chr2:166037847	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285105	rs_121918796	4 SubmittersRCV000059484 RCV006461388
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val)	SNV Germline	Chr2:166037844	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA285108	rs_121918750	3 SubmittersRCV000059485 RCV000817420 RCV002247464
NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg)	SNV Germline	Chr2:166037787	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285111	rs_121918754	5 SubmittersRCV000059486 RCV000519810 RCV006461389
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile)	SNV Germline	Chr2:166058618	Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285126	rs_121918745	4 SubmittersRCV000059492 RCV000433130 RCV006461390
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)	SNV Germline	Chr2:166015636	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 3 not specified Seizure Bilateral tonic-clonic seizure Generalized non-motor (absence) seizure Self-limited epilepsy with centrotemporal spikes Condition: not provided Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases SCN1A-related disorder Early-infantile DEE	Criteria Provided Conflicting Classifications	CA221580	rs_121918799	17 SubmittersRCV000059493 RCV000188915 RCV000415355 RCV000655982 RCV000723551 RCV000986890 RCV001129578 RCV002313744 RCV004537267 RCV006461391
NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys)	SNV Germline	Chr2:166013820	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA285129	rs_121918738	2 SubmittersRCV000059494
NM_001165963.4(SCN1A):c.3693T>A (p.Ser1231Arg)	SNV Germline	Chr2:166013756	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA285135	rs_121918746	2 SubmittersRCV000059496
NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro)	SNV Germline	Chr2:166012210	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA285141	rs_121918739	3 SubmittersRCV003137601 RCV000059498
NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro)	SNV Germline	Chr2:166012128	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285150	rs_121918740	3 SubmittersRCV000059502 RCV006461392
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)	SNV Germline	Chr2:166009796	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 1 not specified Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Conflicting Classifications	CA266111	rs_121918801	5 SubmittersRCV000059503 RCV000188936 RCV001786331 RCV005243111 RCV006607977
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile)	SNV Germline	Chr2:166002660	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 1 Condition: not provided Severe myoclonic epilepsy in infancy Inborn genetic diseases Early-infantile DEE Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy 6B	Criteria Provided Conflicting Classifications	CA266114	rs_121918805	8 SubmittersRCV000059506 RCV001719807 RCV003989315 RCV004668767 RCV006555407 RCV006605216
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu)	SNV Germline	Chr2:165999763	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285162	rs_121918741	5 SubmittersRCV000059509 RCV000521069 RCV006461393
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg)	SNV Germline	Chr2:165999761	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285165	rs_121918789	4 SubmittersRCV000059510 RCV001091662 RCV001253411 RCV006461394
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser)	SNV Germline	Chr2:165996053	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy not specified Early-infantile DEE	Criteria Provided Conflicting Classifications	CA285177	rs_121918764	3 SubmittersRCV000059514 RCV000517134 RCV006461395
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)	SNV Germline	Chr2:165994275	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Inborn genetic diseases Early-infantile DEE	Criteria Provided Conflicting Classifications	CA219777	rs_121918807	9 SubmittersRCV000059515 RCV000986874 RCV004955268 RCV006609487
NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu)	SNV Germline	Chr2:165994241	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285180	rs_121918742	3 SubmittersRCV000059516 RCV006555408
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)	SNV Germline	Chr2:165994164	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Inborn genetic diseases Condition: not provided Early-infantile DEE	Criteria Provided Conflicting Classifications	CA285183	rs_121918808	6 SubmittersRCV000059517 RCV002336219 RCV005251056 RCV006611194
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys)	SNV Germline	Chr2:165992333	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285189	rs_121918791	6 SubmittersRCV000059520 RCV003233101 RCV006555409
NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys)	SNV Germline	Chr2:165992306	Pathogenic	Generalized epilepsy with febrile seizures plus, type 1 Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA266117	rs_121918811	6 SubmittersRCV000059522 RCV001171717 RCV001711166 RCV003992175 RCV006555410
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met)	SNV Germline	Chr2:165992302	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285192	rs_121917922	4 SubmittersRCV000059523 RCV006606225
NM_001165963.4(SCN1A):c.4982T>C (p.Phe1661Ser)	SNV Germline	Chr2:165992293	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Single Submitter	CA285195	rs_121918797	3 SubmittersRCV000059524 RCV005401321
NM_001165963.4(SCN1A):c.5054C>T (p.Ala1685Val)	SNV Germline	Chr2:165992221	Pathogenic	Generalized epilepsy with febrile seizures plus, type 1 Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA266120	rs_121918744	4 SubmittersRCV000059528 RCV003992176 RCV006270346 RCV006461396
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)	SNV Germline	Chr2:165992200	Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285207	rs_121918778	3 SubmittersRCV000059529 RCV006461397
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)	SNV Germline	Chr2:165992194	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy not specified SCN1A-related disorder Early-infantile DEE	Criteria Provided Conflicting Classifications	CA285210	rs_121918777	4 SubmittersRCV000059530 RCV000501085 RCV004734623 RCV006461398
NM_001165963.4(SCN1A):c.523G>A (p.Ala175Thr)	SNV Germline	Chr2:166054717	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285225	rs_121918767	3 SubmittersRCV000059536 RCV005054155 RCV006461399
NM_001165963.4(SCN1A):c.5342A>G (p.Tyr1781Cys)	SNV Germline	Chr2:165991933	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA285228	rs_121918779	2 SubmittersRCV000059537 RCV006555411
NM_001165963.4(SCN1A):c.530G>A (p.Gly177Glu)	SNV Germline	Chr2:166054710	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA285231	rs_121918770	3 SubmittersRCV000059538 RCV006461400
NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met)	SNV Germline	Chr2:165991929	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA285234	rs_121918763	2 SubmittersRCV000059539
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)	SNV Germline	Chr2:165991892	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 1 not specified Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Conflicting Classifications	CA266126	rs_121918813	4 SubmittersRCV000059540 RCV000489760 RCV000764284 RCV006461401
NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu)	SNV Germline	Chr2:165991853	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Single Submitter	CA285237	rs_121918757	3 SubmittersRCV000059541 RCV000435635
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)	SNV Germline	Chr2:165991841	Likely pathogenic	Severe myoclonic epilepsy in infancy Seizure Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA206668	rs_121918751	3 SubmittersRCV000059542 RCV000193290 RCV000478850
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr)	SNV Germline	Chr2:165991720	Pathogenic	Generalized epilepsy with febrile seizures plus, type 1 Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA266129	rs_121918783	7 SubmittersRCV000059544 RCV000180879 RCV005625262 RCV006461402
NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg)	SNV Germline	Chr2:166054672	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285246	rs_121918773	4 SubmittersRCV000059548 RCV006461403
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)	SNV Germline	Chr2:165991549	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285249	rs_121918793	5 SubmittersRCV000059549 RCV000494436 RCV006461404
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)	SNV Germline	Chr2:165991405	Conflicting classifications of pathogenicity	West syndrome Condition: not provided Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 not specified Inborn genetic diseases Early-infantile DEE	Criteria Provided Conflicting Classifications	CA213190	rs_121918802	11 SubmittersRCV000059551 RCV000416094 RCV000764283 RCV002247465 RCV004019071 RCV006555412
NM_001165963.4(SCN1A):c.755T>A (p.Ile252Asn)	SNV Germline	Chr2:166051928	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy 6B Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA285255	rs_121918780	4 SubmittersRCV000059552 RCV001569540 RCV005252729 RCV006461405
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg)	SNV Germline	Chr2:166051906	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Seizure	Criteria Provided Conflicting Classifications	CA285258	rs_121918735	5 SubmittersRCV000059553 RCV000678837
NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile)	SNV Germline	Chr2:166051793	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Condition: not provided Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 not specified Early-infantile DEE	Criteria Provided Conflicting Classifications	CA285264	rs_121918771	6 SubmittersRCV000059555 RCV000997286 RCV001129824 RCV001129823 RCV006263654 RCV006461406
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu)	SNV Germline	Chr2:165996047	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Condition: not provided SCN1A-related disorder Early-infantile DEE	Criteria Provided Conflicting Classifications	CA357173	rs_139300715	6 SubmittersRCV000209885 RCV000494091 RCV004528267 RCV006607050
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter)	SNV Germline	Chr2:166043875	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA266829	rs_398123585	7 SubmittersRCV000174048 RCV000255527 RCV000515441 RCV006606228
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)	SNV Germline	Chr2:166039436	Pathogenic	Condition: not provided Autosomal dominant epilepsy Seizure Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy SCN1A-related disorder Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA266833	rs_398123588	9 SubmittersRCV000255810 RCV000781835 RCV002274894 RCV002247477 RCV003992180 RCV004537326 RCV006555423
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)	SNV Germline	Chr2:166002537	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Inborn genetic diseases SCN1A-related disorder Early-infantile DEE Seizure	Criteria Provided Multiple Submitters No Conflicts	CA266841	rs_398123593	8 SubmittersRCV000079581 RCV001509554 RCV002316233 RCV005867865 RCV006607053 RCV006261950
NM_001165963.4(SCN1A):c.5141T>C (p.Met1714Thr)	SNV Germline	Chr2:165992134	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA266846	rs_121917949	2 SubmittersRCV000079588 RCV001823112
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)	SNV Germline	Chr2:165991324	Conflicting classifications of pathogenicity	Condition: not provided Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases SCN1A-related disorder Early-infantile DEE	Criteria Provided Conflicting Classifications	CA221611	rs_146733308	9 SubmittersRCV000723619 RCV000764282 RCV002313760 RCV004542757 RCV006461438
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)	SNV Germline	Chr2:166238128	Conflicting classifications of pathogenicity	not specified Severe myoclonic epilepsy in infancy Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Primary erythromelalgia Generalized epilepsy with febrile seizures plus, type 7 Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases Primary erythromelalgia Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 7 Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Hereditary ataxia	Criteria Provided Conflicting Classifications	CA201784	rs_141268327	20 SubmittersRCV000176065 RCV000328939 RCV000335798 RCV000383539 RCV000422016 RCV000714848 RCV000714847 RCV001080021 RCV002345422 RCV003224155 RCV005252107 RCV005625298
NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys)	SNV Germline	Chr2:166036493	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Conflicting Classifications	CA234856	rs_727504138	4 SubmittersRCV000153892 RCV004760399 RCV006555500
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)	SNV Germline	Chr2:166012255	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Inborn genetic diseases Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Seizure Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA273365	rs_727504136	10 SubmittersRCV000153888 RCV000188925 RCV002316972 RCV002492580 RCV005624331 RCV006461645
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)	SNV Germline	Chr2:166043973	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Inborn genetic diseases not specified Early-infantile DEE	Criteria Provided Conflicting Classifications	CA234868	rs_544692790	6 SubmittersRCV000515440 RCV000710209 RCV002408682 RCV004998305 RCV006606276
NM_001165963.4(SCN1A):c.694+5G>C	SNV Germline	Chr2:166052847	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Conflicting Classifications	CA234876	rs_727504142	3 SubmittersRCV000153902 RCV000180927 RCV006461648
NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr)	SNV Germline	Chr2:165991495	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303228	rs_794726737	1 SubmittersRCV000180845
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)	SNV Germline	Chr2:165991601	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303237	rs_794726739	8 SubmittersRCV000180848 RCV000189004 RCV000995637 RCV002505227 RCV002281566 RCV006461703
NM_001165963.4(SCN1A):c.5662C>T (p.Gln1888Ter)	SNV Germline	Chr2:165991613	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303571	rs_794726845	2 SubmittersRCV000180975 RCV006555532
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)	SNV Germline	Chr2:165991619	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303286	rs_779614747	5 SubmittersRCV000180864 RCV000189014 RCV006461706
NM_001165963.4(SCN1A):c.5536A>T (p.Lys1846Ter)	SNV Germline	Chr2:165991739	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303126	rs_372098964	1 SubmittersRCV000180812
NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val)	SNV Germline	Chr2:165991760	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303429	rs_794726801	2 SubmittersRCV000180919 RCV003480074
NM_001165963.4(SCN1A):c.5470G>T (p.Glu1824Ter)	SNV Germline	Chr2:165991805	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303342	rs_794726769	1 SubmittersRCV000180885
NM_001165963.4(SCN1A):c.5461C>T (p.Gln1821Ter)	SNV Germline	Chr2:165991814	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303372	rs_794726781	1 SubmittersRCV000180897
NM_001165963.4(SCN1A):c.5404G>T (p.Glu1802Ter)	SNV Germline	Chr2:165991871	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303368	rs_794726780	1 SubmittersRCV000180896
NM_001165963.4(SCN1A):c.5264A>G (p.Asp1755Gly)	SNV Germline	Chr2:165992011	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303182	rs_794726722	1 SubmittersRCV000180829
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr)	SNV Germline	Chr2:165992053	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303327	rs_794726763	3 SubmittersRCV000180878 RCV000188996 RCV006461713
NM_001165963.4(SCN1A):c.5108A>T (p.Asp1703Val)	SNV Germline	Chr2:165992167	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303433	rs_794726802	1 SubmittersRCV000180920
NM_001165963.4(SCN1A):c.5106T>A (p.Asp1702Glu)	SNV Germline	Chr2:165992169	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303444	rs_794726804	1 SubmittersRCV000180924
NM_001165963.4(SCN1A):c.5082T>G (p.Tyr1694Ter)	SNV Germline	Chr2:165992193	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303275	rs_794726748	1 SubmittersRCV000180859
NM_001165963.4(SCN1A):c.5063G>T (p.Gly1688Val)	SNV Germline	Chr2:165992212	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303590	rs_794726851	1 SubmittersRCV000180982
NM_001165963.4(SCN1A):c.5014A>C (p.Asn1672His)	SNV Germline	Chr2:165992261	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303241	rs_794726740	1 SubmittersRCV000180849
NM_001165963.4(SCN1A):c.5003C>G (p.Pro1668Arg)	SNV Germline	Chr2:165992272	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303095	rs_794726698	1 SubmittersRCV000180799
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe)	SNV Germline	Chr2:165992278	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303314	rs_794726760	3 SubmittersRCV000180874 RCV006461711
NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val)	SNV Germline	Chr2:165992290	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303545	rs_794726839	3 SubmittersRCV000180967 RCV002316981 RCV004700524
NM_001165963.4(SCN1A):c.4934G>C (p.Arg1645Pro)	SNV Germline	Chr2:165992341	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303527	rs_121917976	1 SubmittersRCV000180961
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter)	SNV Germline	Chr2:165992342	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303310	rs_794726759	7 SubmittersRCV000180873 RCV001090360 RCV001580464 RCV001813764 RCV006461710
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)	SNV Germline	Chr2:165992369	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303158	rs_199727342	7 SubmittersRCV000180823 RCV000188982 RCV003128152 RCV006461701
NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter)	SNV Germline	Chr2:165994187	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303425	rs_794726800	2 SubmittersRCV000180918 RCV006461722
NM_001165963.4(SCN1A):c.4766T>G (p.Val1589Gly)	SNV Germline	Chr2:165994232	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303511	rs_764037830	1 SubmittersRCV000180954
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)	SNV Germline	Chr2:165996021	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Migraine, familial hemiplegic, 3 Early-infantile DEE SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA303282	rs_794726752	8 SubmittersRCV000180863 RCV000188962 RCV002221506 RCV006461705 RCV005867984
NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter)	SNV Germline	Chr2:165996045	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303535	rs_794726835	2 SubmittersRCV000180963 RCV000352668
NM_001165963.4(SCN1A):c.4547C>G (p.Ser1516Trp)	SNV Germline	Chr2:165996047	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303318	rs_139300715	1 SubmittersRCV000180875
NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe)	SNV Germline	Chr2:165998102	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303462	rs_794726809	3 SubmittersRCV000180931 RCV006461725
NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr)	SNV Germline	Chr2:165998163	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303087	rs_794726696	2 SubmittersRCV000180797 RCV006461695
NM_001165963.4(SCN1A):c.4338+4A>C	SNV Germline	Chr2:165999719	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303222	rs_794726734	1 SubmittersRCV000180842
NM_001165963.4(SCN1A):c.4302G>A (p.Trp1434Ter)	SNV Germline	Chr2:165999759	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303099	rs_794726699	2 SubmittersRCV000180800 RCV006555523
NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter)	SNV Germline	Chr2:166002533	Pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303381	rs_794726784	3 SubmittersRCV000180900 RCV001527712 RCV006555527
NM_001165963.4(SCN1A):c.4188C>A (p.Cys1396Ter)	SNV Germline	Chr2:166002568	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303259	rs_794726745	1 SubmittersRCV000180855
NM_001165963.4(SCN1A):c.4168G>C (p.Val1390Leu)	SNV Germline	Chr2:166002588	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303554	rs_121917986	1 SubmittersRCV000180970
NM_001165963.4(SCN1A):c.4088T>A (p.Ile1363Asn)	SNV Germline	Chr2:166002668	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303118	rs_794726707	1 SubmittersRCV000180810
NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg)	SNV Germline	Chr2:166002670	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303364	rs_794726779	2 SubmittersRCV000180895 RCV006461718
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro)	SNV Germline	Chr2:166002701	Pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303491	rs_794726821	3 SubmittersRCV000180946 RCV002272155 RCV006461726
NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile)	SNV Germline	Chr2:166002712	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303495	rs_794726822	1 SubmittersRCV000180947
NM_001165963.4(SCN1A):c.4016C>T (p.Ala1339Val)	SNV Germline	Chr2:166002740	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303389	rs_794726789	1 SubmittersRCV000180905
NM_001165963.4(SCN1A):c.3899C>G (p.Thr1300Arg)	SNV Germline	Chr2:166009822	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303438	rs_146878122	2 SubmittersRCV000180922 RCV006555529
NM_001165963.4(SCN1A):c.3880-2A>G	SNV Germline	Chr2:166009843	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303483	rs_794726816	2 SubmittersRCV000180941 RCV000707470
NM_001165963.4(SCN1A):c.3879+1G>T	SNV Germline	Chr2:166012108	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303103	rs_794726700	1 SubmittersRCV000180801
NM_001165963.4(SCN1A):c.3858G>A (p.Trp1286Ter)	SNV Germline	Chr2:166012130	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303598	rs_794726853	1 SubmittersRCV000180985
NM_001165963.4(SCN1A):c.3828T>A (p.Tyr1276Ter)	SNV Germline	Chr2:166012160	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303210	rs_794726731	1 SubmittersRCV000180839
NM_001165963.4(SCN1A):c.3821A>C (p.Tyr1274Ser)	SNV Germline	Chr2:166012167	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303594	rs_794726852	1 SubmittersRCV000180984
NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val)	SNV Germline	Chr2:166012170	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303550	rs_794726841	3 SubmittersRCV000180969 RCV000442784
NM_001165963.4(SCN1A):c.3763G>C (p.Ala1255Pro)	SNV Germline	Chr2:166012225	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303188	rs_777939538	1 SubmittersRCV000180832
NM_001165963.4(SCN1A):c.3757G>T (p.Glu1253Ter)	SNV Germline	Chr2:166012231	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303484	rs_794726817	1 SubmittersRCV000180942
NM_001165963.4(SCN1A):c.3730C>T (p.Gln1244Ter)	SNV Germline	Chr2:166012258	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA303201	rs_794726727	2 SubmittersRCV000180836
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)	SNV Germline	Chr2:166012282	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Intellectual disability	Criteria Provided Multiple Submitters No Conflicts	CA303346	rs_794726770	2 SubmittersRCV000180886 RCV001255366
NM_001165963.4(SCN1A):c.3705+2T>A	SNV Germline	Chr2:166013742	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303223	rs_794726735	1 SubmittersRCV000180843
NM_001165963.4(SCN1A):c.3705+1G>A	SNV Germline	Chr2:166013743	Pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303258	rs_794726744	3 SubmittersRCV000180854 RCV001727612 RCV006461704
NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln)	SNV Germline	Chr2:166013788	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303606	rs_794726854	2 SubmittersRCV000180987 RCV006461732
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)	SNV Germline	Chr2:166013812	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Seizure Migraine, familial hemiplegic, 3 Inborn genetic diseases Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303131	rs_794726710	11 SubmittersRCV000180814 RCV000189082 RCV000585684 RCV002281564 RCV002453572 RCV006461698
NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter)	SNV Germline	Chr2:166013834	Pathogenic	Severe myoclonic epilepsy in infancy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA303170	rs_794726720	2 SubmittersRCV000180826 RCV000624326
NM_001165963.4(SCN1A):c.3550+1G>A	SNV Germline	Chr2:166015606	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303539	rs_794726836	2 SubmittersRCV000180964 RCV006461730
NM_001165963.4(SCN1A):c.3455C>A (p.Ser1152Ter)	SNV Germline	Chr2:166015702	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303205	rs_794726728	1 SubmittersRCV000180837
NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter)	SNV Germline	Chr2:166015718	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303218	rs_794726733	2 SubmittersRCV000180841 RCV006555525
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter)	SNV Germline	Chr2:166036371	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303458	rs_542420576	3 SubmittersRCV000180930 RCV003441770 RCV006607072
NM_001165963.4(SCN1A):c.2985T>G (p.Phe995Leu)	SNV Germline	Chr2:166036492	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA303267	rs_794726746	2 SubmittersRCV000188906 RCV000180857
NM_001165963.4(SCN1A):c.2946+1G>T	SNV Germline	Chr2:166037775	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303354	rs_794726772	3 SubmittersRCV000180888 RCV000188902 RCV006461715
NM_001165963.4(SCN1A):c.2936G>A (p.Gly979Glu)	SNV Germline	Chr2:166037786	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303559	rs_794726842	2 SubmittersRCV000180972 RCV006461731
NM_001165963.4(SCN1A):c.2929G>A (p.Val977Met)	SNV Germline	Chr2:166037793	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303515	rs_794726828	1 SubmittersRCV000180955
NM_001165963.4(SCN1A):c.2903G>T (p.Cys968Phe)	SNV Germline	Chr2:166037819	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303499	rs_794726823	1 SubmittersRCV000180948
NM_001165963.4(SCN1A):c.2879T>G (p.Met960Arg)	SNV Germline	Chr2:166037843	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303122	rs_794726708	1 SubmittersRCV000180811
NM_001165963.4(SCN1A):c.2876G>A (p.Cys959Tyr)	SNV Germline	Chr2:166037846	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303149	rs_794726716	3 SubmittersRCV000180820 RCV000256008
NM_001165963.4(SCN1A):c.2837G>C (p.Arg946Pro)	SNV Germline	Chr2:166037885	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA303197	rs_121917971	3 SubmittersRCV000180835
NM_001165963.4(SCN1A):c.2792G>C (p.Arg931Pro)	SNV Germline	Chr2:166037930	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303413	rs_794726718	3 SubmittersRCV000180915 RCV005865265 RCV006461721
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His)	SNV Germline	Chr2:166037930	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Early-infantile DEE	Reviewed By Expert Panel	CA303154	rs_794726718	7 SubmittersRCV000180822 RCV000412755 RCV000763459 RCV002281565 RCV006461700
NM_001165963.4(SCN1A):c.2780G>T (p.Cys927Phe)	SNV Germline	Chr2:166037942	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy SCN1A-related disorder Early-infantile DEE	Criteria Provided Conflicting Classifications	CA303467	rs_794726811	3 SubmittersRCV000180933 RCV004535159 RCV006555530
NM_001165963.4(SCN1A):c.2728C>A (p.Gln910Lys)	SNV Germline	Chr2:166037994	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303174	rs_794726721	1 SubmittersRCV000180827
NM_001165963.4(SCN1A):c.2690T>C (p.Leu897Ser)	SNV Germline	Chr2:166038032	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303322	rs_794726761	2 SubmittersRCV000180876 RCV006461712
NM_001165963.4(SCN1A):c.2678T>A (p.Leu893Ter)	SNV Germline	Chr2:166038044	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303479	rs_794726815	1 SubmittersRCV000180940
NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr)	SNV Germline	Chr2:166038107	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303383	rs_794726786	2 SubmittersRCV000180902 RCV001531324
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)	SNV Germline	Chr2:166038129	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Seizure SCN1A-related disorder Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303091	rs_794726697	9 SubmittersRCV000180798 RCV000423112 RCV001786337 RCV004725018 RCV006555522
NM_001165963.4(SCN1A):c.2589+3A>T	SNV Germline	Chr2:166039420	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Early-infantile DEE Seizure	Criteria Provided Multiple Submitters No Conflicts	CA303357	rs_794726775	15 SubmittersRCV000188876 RCV000180891 RCV003224181 RCV006555526 RCV005624334
NM_001165963.4(SCN1A):c.2588T>G (p.Leu863Trp)	SNV Germline	Chr2:166039424	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303139	rs_794726712	1 SubmittersRCV000180816
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter)	SNV Germline	Chr2:166039428	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA275003	rs_397514459	8 SubmittersRCV000174713 RCV000174714 RCV006461697
NM_001165963.4(SCN1A):c.2537A>G (p.Glu846Gly)	SNV Germline	Chr2:166039475	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303403	rs_794726794	1 SubmittersRCV000180911
NM_001165963.4(SCN1A):c.2479T>G (p.Tyr827Asp)	SNV Germline	Chr2:166039533	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303448	rs_794726805	1 SubmittersRCV000180925
NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val)	SNV Germline	Chr2:166041293	Pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303300	rs_767045134	4 SubmittersRCV000180869 RCV005243144 RCV006461709
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu)	SNV Germline	Chr2:166041343	Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Reviewed By Expert Panel	CA303333	rs_794726766	5 SubmittersRCV000180882 RCV003482238 RCV006461714
NM_001165963.4(SCN1A):c.2261G>T (p.Trp754Leu)	SNV Germline	Chr2:166041385	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303254	rs_794726743	1 SubmittersRCV000180853
NM_001165963.4(SCN1A):c.2213G>T (p.Trp738Leu)	SNV Germline	Chr2:166041433	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303250	rs_794726742	1 SubmittersRCV000180852
NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter)	SNV Germline	Chr2:166041433	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303442	rs_794726742	3 SubmittersRCV000180923 RCV000578911 RCV006461724
NM_001165963.4(SCN1A):c.2176+3T>A	SNV Germline	Chr2:166042289	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303407	rs_794726795	1 SubmittersRCV000180912
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)	SNV Germline	Chr2:166042334	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy, 1 Autosomal dominant epilepsy Inborn genetic diseases SCN1A-related disorder Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA274966	rs_794726730	16 SubmittersRCV000174291 RCV000188886 RCV001004670 RCV001527645 RCV001824659 RCV002515207 RCV004535158 RCV006606278
NM_001165963.4(SCN1A):c.2071A>T (p.Lys691Ter)	SNV Germline	Chr2:166042397	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303271	rs_794726747	1 SubmittersRCV000180858
NM_001165963.4(SCN1A):c.1970C>T (p.Pro657Leu)	SNV Germline	Chr2:166043742	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303541	rs_794726838	1 SubmittersRCV000180966
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter)	SNV Germline	Chr2:166043878	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303360	rs_794726778	4 SubmittersRCV000180894 RCV006461717
NM_001165963.4(SCN1A):c.1804G>T (p.Glu602Ter)	SNV Germline	Chr2:166043908	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303531	rs_794726834	1 SubmittersRCV000180962
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)	SNV Germline	Chr2:166043974	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided SCN1A-related disorder Inborn genetic diseases Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303224	rs_794726736	8 SubmittersRCV000180844 RCV000254957 RCV004528926 RCV006362092 RCV006461702
NM_001165963.4(SCN1A):c.1662+3A>G	SNV Germline	Chr2:166045040	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303355	rs_794726773	3 SubmittersRCV000180889 RCV005861074 RCV006461716
NM_001165963.4(SCN1A):c.1662+1G>T	SNV Germline	Chr2:166045042	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303279	rs_794726749	1 SubmittersRCV000180860
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)	SNV Germline	Chr2:166045081	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303104	rs_138877187	7 SubmittersRCV000180802 RCV000188870 RCV001004730 RCV002313015 RCV006607071
NM_001165963.4(SCN1A):c.1516C>T (p.Gln506Ter)	SNV Germline	Chr2:166045189	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303393	rs_794726790	3 SubmittersRCV000180906 RCV004696866 RCV006461720
NM_001165963.4(SCN1A):c.1345G>T (p.Glu449Ter)	SNV Germline	Chr2:166046802	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303453	rs_794726807	1 SubmittersRCV000180928
NM_001165963.4(SCN1A):c.1265T>C (p.Val422Ala)	SNV Germline	Chr2:166046882	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303306	rs_121917989	1 SubmittersRCV000180872
NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val)	SNV Germline	Chr2:166046888	Likely pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus Early-infantile DEE	Reviewed By Expert Panel	CA303506	rs_794726826	3 SubmittersRCV000180952 RCV005889656 RCV006461728
NM_001165963.4(SCN1A):c.1199T>A (p.Met400Lys)	SNV Germline	Chr2:166046948	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303192	rs_794726725	1 SubmittersRCV000180833
NM_001165963.4(SCN1A):c.1170+1G>T	SNV Germline	Chr2:166047626	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303332	rs_794726765	2 SubmittersRCV000180881 RCV000433816
NM_001165963.4(SCN1A):c.1146C>A (p.Asp382Glu)	SNV Germline	Chr2:166047651	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303290	rs_794726753	2 SubmittersRCV000180865 RCV006461707
NM_001165963.4(SCN1A):c.1136T>A (p.Met379Lys)	SNV Germline	Chr2:166047661	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303214	rs_794726732	1 SubmittersRCV000180840
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)	SNV Germline	Chr2:166047668	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Seizure SCN1A-related disorder Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303421	rs_794726799	10 SubmittersRCV000180917 RCV000423099 RCV002274946 RCV005867986 RCV006606279
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser)	SNV Germline	Chr2:166047721	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Condition: not provided Inborn genetic diseases Early-infantile DEE	Criteria Provided Conflicting Classifications	CA303143	rs_794726713	6 SubmittersRCV000180817 RCV000329798 RCV004965289 RCV006461699
NM_001165963.4(SCN1A):c.1072C>T (p.Pro358Ser)	SNV Germline	Chr2:166047725	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy, 6A	Criteria Provided Multiple Submitters No Conflicts	CA303166	rs_121917923	2 SubmittersRCV000180825 RCV003326125
NM_001165963.4(SCN1A):c.1048A>G (p.Met350Val)	SNV Germline	Chr2:166047749	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303338	rs_794726768	1 SubmittersRCV000180884
NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys)	SNV Germline	Chr2:166047751	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303567	rs_794726844	2 SubmittersRCV000180974 RCV006555531
NM_001165963.4(SCN1A):c.1033T>C (p.Cys345Arg)	SNV Germline	Chr2:166047764	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303376	rs_794726782	2 SubmittersRCV000180898 RCV006461719
NM_001165963.4(SCN1A):c.1025C>T (p.Ala342Val)	SNV Germline	Chr2:166048889	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303409	rs_794726797	1 SubmittersRCV000180914
NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser)	SNV Germline	Chr2:166048890	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303563	rs_794726843	2 SubmittersRCV000180973 RCV003228910
NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr)	SNV Germline	Chr2:166048907	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303417	rs_794726798	3 SubmittersRCV000180916 RCV006555528
NM_001165963.4(SCN1A):c.965-1G>A	SNV Germline	Chr2:166048950	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Inborn genetic diseases Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303503	rs_794726824	5 SubmittersRCV000180949 RCV000188853 RCV002381539 RCV006606280
NM_001165963.4(SCN1A):c.964+14T>G	SNV Germline	Chr2:166051705	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303540	rs_794726837	1 SubmittersRCV000180965
NM_001165963.4(SCN1A):c.826A>C (p.Lys276Gln)	SNV Germline	Chr2:166051857	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303576	rs_794726847	1 SubmittersRCV000180977
NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg)	SNV Germline	Chr2:166051914	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA303350	rs_794726771	2 SubmittersRCV000188845 RCV000180887
NM_001165963.4(SCN1A):c.747T>G (p.Asp249Glu)	SNV Germline	Chr2:166051936	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303474	rs_773407463	2 SubmittersRCV000180938
NM_001165963.4(SCN1A):c.728C>A (p.Ser243Tyr)	SNV Germline	Chr2:166051955	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303295	rs_794726755	1 SubmittersRCV000180867
NM_001165963.4(SCN1A):c.675G>C (p.Lys225Asn)	SNV Germline	Chr2:166052871	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303162	rs_794726719	2 SubmittersRCV000180824 RCV000428290
NM_001165963.4(SCN1A):c.602+3A>C	SNV Germline	Chr2:166054635	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303526	rs_794726833	1 SubmittersRCV000180960
NM_001165963.4(SCN1A):c.602+1G>T	SNV Germline	Chr2:166054637	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303510	rs_794726827	2 SubmittersRCV000180953 RCV006461729
NM_001165963.4(SCN1A):c.530G>T (p.Gly177Val)	SNV Germline	Chr2:166054710	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303263	rs_121918770	1 SubmittersRCV000180856
NM_001165963.4(SCN1A):c.473+1G>C	SNV Germline	Chr2:166056410	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303549	rs_794726840	1 SubmittersRCV000180968
NM_001165963.4(SCN1A):c.433A>G (p.Met145Val)	SNV Germline	Chr2:166056451	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303585	rs_794726849	1 SubmittersRCV000180980
NM_001165963.4(SCN1A):c.384-1C>G	SNV Germline	Chr2:166056501	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303331	rs_794726764	1 SubmittersRCV000180880
NM_001165963.4(SCN1A):c.383+1A>G	SNV Germline	Chr2:166058569	Pathogenic	Severe myoclonic epilepsy in infancy Inborn genetic diseases Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303437	rs_794726803	3 SubmittersRCV000180921 RCV002316980 RCV006461723
NM_001165963.4(SCN1A):c.380A>T (p.His127Leu)	SNV Germline	Chr2:166058573	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303521	rs_794726831	1 SubmittersRCV000180958
NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr)	SNV Germline	Chr2:166058616	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303135	rs_794726711	3 SubmittersRCV000180815 RCV000188831 RCV000636365
NM_001165963.4(SCN1A):c.323T>C (p.Leu108Pro)	SNV Germline	Chr2:166058630	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303399	rs_794726793	1 SubmittersRCV000180910
NM_001165963.4(SCN1A):c.308G>T (p.Ser103Ile)	SNV Germline	Chr2:166058645	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303246	rs_760361423	1 SubmittersRCV000180851
NM_001165963.4(SCN1A):c.264+5G>C	SNV Germline	Chr2:166073353	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA303326	rs_794726762	2 SubmittersRCV000180877 RCV006607980
NM_001165963.4(SCN1A):c.121A>T (p.Lys41Ter)	SNV Germline	Chr2:166073501	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303232	rs_764444350	1 SubmittersRCV000180846
NM_001165963.4(SCN1A):c.70G>A (p.Ala24Thr)	SNV Germline	Chr2:166073552	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303581	rs_794726848	1 SubmittersRCV000180979
NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter)	SNV Germline	Chr2:166041432	Pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA274764	rs_786205214	3 SubmittersRCV000170444 RCV000438487 RCV002288778
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)	SNV Germline	Chr2:166015676	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Condition: not provided SCN1A-related disorder Inborn genetic diseases Early-infantile DEE	Criteria Provided Conflicting Classifications	CA240854	rs_201079458	9 SubmittersRCV000515245 RCV000724750 RCV001132318 RCV002336423 RCV006608672
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)	SNV Germline	Chr2:166058574	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Condition: not provided SCN1A-related disorder Early-infantile DEE	Criteria Provided Conflicting Classifications	CA302801	rs_148442069	8 SubmittersRCV000764287 RCV000724565 RCV004734783 RCV006606287
NM_001165963.4(SCN1A):c.602+1G>A	SNV Germline	Chr2:166054637	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Global developmental delay Seizure Autism Focal impaired awareness seizure Migraine, familial hemiplegic, 3 Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy, 76 See cases Seizure Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA302978	rs_794726827	17 SubmittersRCV000178154 RCV000188832 RCV000768306 RCV001004746 RCV001003957 RCV001290257 RCV002281567 RCV003224195 RCV003338449 RCV004797789 RCV005624338 RCV006461783
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu)	SNV Unknown	Chr2:165998070	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA275462	rs_794729200	1 SubmittersRCV000986878
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly)	SNV Germline	Chr2:165991363	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Inborn genetic diseases Early-infantile DEE	Criteria Provided Conflicting Classifications	CA317682	rs_771936735	5 SubmittersRCV000189026 RCV001334844 RCV002514051 RCV006611942
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr)	SNV Germline	Chr2:165991594	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Conflicting Classifications	CA317649	rs_562208324	3 SubmittersRCV000189015 RCV000986869 RCV006461922
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)	SNV Germline	Chr2:165991774	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Early-infantile DEE	Criteria Provided Conflicting Classifications	CA317613	rs_780809852	8 SubmittersRCV000189005 RCV000714535 RCV000714534 RCV003128153 RCV004594027 RCV006555615
NM_001165963.4(SCN1A):c.4931G>A (p.Gly1644Asp)	SNV Germline	Chr2:165992344	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA317557	rs_796053030	3 SubmittersRCV000188985 RCV006547778
NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro)	SNV Germline	Chr2:165992359	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Reviewed By Expert Panel	CA317553	rs_796053029	3 SubmittersRCV000188984 RCV004577517 RCV006461914
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)	SNV Germline	Chr2:165996038	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Inborn genetic diseases Early-infantile DEE	Criteria Provided Conflicting Classifications	CA317501	rs_372425457	6 SubmittersRCV000188964 RCV000986876 RCV002317151 RCV006461910
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)	SNV Germline	Chr2:165996047	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 SCN1A-related disorder Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA317493	rs_139300715	13 SubmittersRCV000188961 RCV000416525 RCV000763458 RCV003448284 RCV004734834 RCV006461908
NM_001165963.4(SCN1A):c.4476+1A>G	SNV Germline	Chr2:165998037	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA317467	rs_796053014	3 SubmittersRCV000188953 RCV000201073 RCV006461907
NM_001165963.4(SCN1A):c.4313T>C (p.Met1438Thr)	SNV Germline	Chr2:165999748	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy SCN1A-related disorder Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA317450	rs_796053010	3 SubmittersRCV004804286 RCV005868431 RCV006468317
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)	SNV Germline	Chr2:166009736	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Inborn genetic diseases Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy, 6A Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA317421	rs_796053004	8 SubmittersRCV000188938 RCV000201135 RCV000622874 RCV001194614 RCV002470805 RCV006461903
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)	SNV Germline	Chr2:166009822	Conflicting classifications of pathogenicity	not specified Condition: not provided Severe myoclonic epilepsy in infancy Intellectual disability Inborn genetic diseases Early-infantile DEE	Criteria Provided Conflicting Classifications	CA317408	rs_146878122	10 SubmittersRCV000188933 RCV000724898 RCV000986884 RCV001252612 RCV002314753 RCV006461901
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)	SNV Germline	Chr2:166012138	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA317404	rs_796053001	3 SubmittersRCV000188932 RCV001375621 RCV002247609
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=)	SNV Germline	Chr2:166036048	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Conflicting Classifications	CA317359	rs_796052994	4 SubmittersRCV000188913 RCV005243153 RCV006461897
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)	SNV Germline	Chr2:166036483	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Early-infantile DEE	Criteria Provided Conflicting Classifications	CA317343	rs_796052991	4 SubmittersRCV000188907 RCV001509553 RCV003448283 RCV006461895
NM_001165963.4(SCN1A):c.2782C>T (p.Gln928Ter)	SNV Germline	Chr2:166037940	Pathogenic/Likely pathogenic	Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA317311	rs_796052985	3 SubmittersRCV000188896 RCV005025307 RCV006555605
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His)	SNV Germline	Chr2:166045101	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Inborn genetic diseases Early-infantile DEE	Criteria Provided Conflicting Classifications	CA317245	rs_184524479	4 SubmittersRCV000188874 RCV000585879 RCV002399702 RCV006461886
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys)	SNV Germline	Chr2:166046870	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA317209	rs_796052973	5 SubmittersRCV000188864 RCV001528187 RCV006461883
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met)	SNV Germline	Chr2:166046954	Conflicting classifications of pathogenicity	Condition: not provided Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Conflicting Classifications	CA317213	rs_774937055	5 SubmittersRCV000188865 RCV001134813 RCV001134812 RCV001775093 RCV006461884
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)	SNV Germline	Chr2:166048928	Pathogenic/Likely pathogenic	Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA317185	rs_779184118	4 SubmittersRCV000188856 RCV000677680 RCV000986909
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys)	SNV Germline	Chr2:166048929	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Intellectual disability Developmental and epileptic encephalopathy 6B Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA317771	rs_781746113	4 SubmittersRCV000189077 RCV001253376 RCV001255357 RCV005410891 RCV006461933
NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro)	SNV Germline	Chr2:166052884	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA317148	rs_796052961	2 SubmittersRCV000188840 RCV003448282
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro)	SNV Germline	Chr2:166054735	Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA317134	rs_796052957	2 SubmittersRCV000188835 RCV000500830
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)	SNV Germline	Chr2:166056412	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Conflicting Classifications	CA317752	rs_796053090	4 SubmittersRCV000189072 RCV001252613 RCV006607090
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys)	SNV Germline	Chr2:166073540	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 2 SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA317371	rs_754032480	5 SubmittersRCV000188919 RCV001241778 RCV002485282 RCV002225093 RCV004734833
NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter)	SNV Germline	Chr2:165991839	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA325468	rs_863225037	3 SubmittersRCV000201173 RCV006555664
NM_001165963.4(SCN1A):c.4477-2A>G	SNV Germline	Chr2:165996119	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA325463	rs_863225036	2 SubmittersRCV000201155 RCV006462084
NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter)	SNV Germline	Chr2:166002490	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA325451	rs_863225035	1 SubmittersRCV000201009
NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter)	SNV Germline	Chr2:166013792	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA325459	rs_863225033	2 SubmittersRCV000201129 RCV006462083
NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter)	SNV Germline	Chr2:166036171	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA325469	rs_863225032	1 SubmittersRCV000201200
NM_001165963.4(SCN1A):c.1028+1G>T	SNV Germline	Chr2:166048885	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA325455	rs_863225030	2 SubmittersRCV000201025 RCV006462082
NM_001165963.4(SCN1A):c.264+5G>A	SNV Germline	Chr2:166073353	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Autosomal dominant epilepsy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA325458	rs_794726762	6 SubmittersRCV000201121 RCV001197105 RCV002469061 RCV006607116
NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter)	SNV Germline	Chr2:166073373	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA325464	rs_863225031	3 SubmittersRCV000201161 RCV006555663
NM_001165963.4(SCN1A):c.4002+2451G>C	SNV Germline	Chr2:166007268	Pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA357199	rs_869312684	3 SubmittersRCV000209951 RCV005621917 RCV006555682
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)	SNV Germline	Chr2:166044010	Pathogenic	Condition: not provided Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Inborn genetic diseases Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA10588322	rs_886039430	8 SubmittersRCV000254726 RCV000768077 RCV001194613 RCV001198880 RCV003224247 RCV003362739 RCV006462272
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val)	SNV Germline	Chr2:166052885	Conflicting classifications of pathogenicity	Condition: not provided Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 not specified Early-infantile DEE	Criteria Provided Conflicting Classifications	CA10588324	rs_886039456	4 SubmittersRCV000255269 RCV000763462 RCV005895438 RCV006462275
NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu)	SNV Unknown	Chr2:166048889	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA10602709	rs_794726797	1 SubmittersRCV000258942
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser)	SNV Germline	Chr2:166058599	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA10602815	rs_121917959	2 SubmittersRCV000364532 RCV000986918
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met)	SNV Germline	Chr2:166046883	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided SCN1A-related disorder Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA10604358	rs_886042528	5 SubmittersRCV000314247 RCV000725185 RCV004543016 RCV006555761
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met)	SNV Germline	Chr2:166046886	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA16042397	rs_781507889	3 SubmittersRCV000413776 RCV001328664
NM_001165963.4(SCN1A):c.2362G>A (p.Glu788Lys)	SNV Germline	Chr2:166041284	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA16042443	rs_1057517959	3 SubmittersRCV000413156 RCV003992286 RCV006555890
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala)	SNV Germline	Chr2:165991924	Likely pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA16043651	rs_1057518671	1 SubmittersRCV000414903
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn)	SNV Germline	Chr2:166044003	Likely pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Inborn genetic diseases Early-infantile DEE Generalized epilepsy with febrile seizures plus	Reviewed By Expert Panel	CA16043652	rs_1057518703	5 SubmittersRCV000415450 RCV001584109 RCV002402109 RCV006462602 RCV005900683
NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile)	SNV Germline	Chr2:165994184	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA16044312	rs_1057519533	1 SubmittersRCV000417022
NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro)	SNV Germline	Chr2:166052864	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA16044315	rs_1057519530	1 SubmittersRCV000416974
NM_001165963.4(SCN1A):c.603-2A>G	SNV Germline	Chr2:166052945	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA16044316	rs_1057519531	2 SubmittersRCV000417006 RCV006462608
NM_001165963.4(SCN1A):c.4476+6T>C	SNV Germline	Chr2:165998032	Conflicting classifications of pathogenicity	not specified Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA16603835	rs_1057523807	2 SubmittersRCV000435673 RCV005869427
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)	SNV Germline	Chr2:166288474	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Condition: not provided Inborn genetic diseases Primary erythromelalgia Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Severe myoclonic epilepsy in infancy Primary erythromelalgia Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Generalized epilepsy with febrile seizures plus, type 7	Criteria Provided Conflicting Classifications	CA1944559	rs_200415928	5 SubmittersRCV000463481 RCV001755714 RCV002446880 RCV003224294 RCV005252109
NM_001165963.4(SCN1A):c.3705+5G>A	SNV Germline	Chr2:166013739	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA16610273	rs_1060502189	2 SubmittersRCV000986887 RCV006462881
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro)	SNV Germline	Chr2:165992303	Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA16617285	rs_1064794766	2 SubmittersRCV000482880 RCV003221302
NM_001165963.4(SCN1A):c.2043+1G>A	SNV Germline	Chr2:166043668	Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Autosomal dominant epilepsy	Criteria Provided Multiple Submitters No Conflicts	CA1943216	rs_751533302	3 SubmittersRCV000486990 RCV002244954 RCV003987560
NM_001165963.4(SCN1A):c.1498C>T (p.Arg500Trp)	SNV Germline	Chr2:166045207	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B	Criteria Provided Conflicting Classifications	CA1943296	rs_141188608	5 SubmittersRCV000486171 RCV003989533 RCV004564161 RCV006556042 RCV005398685
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)	SNV Germline	Chr2:165998038	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA429892897	rs_1085307730	4 SubmittersRCV000489904 RCV001814163 RCV006463052
NM_001165963.4(SCN1A):c.1027G>A (p.Gly343Ser)	SNV Germline	Chr2:166048887	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Conflicting Classifications	CA349071541	rs_1553548063	3 SubmittersRCV000497813 RCV005628145 RCV006556108
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)	SNV Germline	Chr2:165994211	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE Inborn genetic diseases Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA1942737	rs_575368466	8 SubmittersRCV000518137 RCV002289705 RCV006463221 RCV005480381 RCV006550274
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter)	SNV Germline	Chr2:166015661	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349056701	rs_368609628	3 SubmittersRCV000517686 RCV000986891 RCV006463220
NM_001165963.4(SCN1A):c.5164A>G (p.Thr1722Ala)	SNV Germline	Chr2:165992111	Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349068831	rs_1553520321	2 SubmittersRCV000522920 RCV005869579
NM_001165963.4(SCN1A):c.2817C>A (p.His939Gln)	SNV Germline	Chr2:166037905	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349061306	rs_121918795	2 SubmittersRCV000519717 RCV003992313
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr)	SNV Germline	Chr2:166038057	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349061639	rs_1266877537	3 SubmittersRCV001253601 RCV001696832 RCV006606434
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=)	SNV Germline	Chr2:165992058	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Condition: not provided Inborn genetic diseases Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 not specified Early-infantile DEE	Criteria Provided Conflicting Classifications	CA1942686	rs_149315236	5 SubmittersRCV000768075 RCV000828050 RCV002350223 RCV003224323 RCV004701623 RCV006608735
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp)	SNV Germline	Chr2:165991924	Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA349068040	rs_1057518671	2 SubmittersRCV000578114 RCV006556286
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn)	SNV Germline	Chr2:166002716	Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349050737	rs_1553525325	2 SubmittersRCV000578191 RCV006556287
NM_001165963.4(SCN1A):c.4853-1G>C	SNV Germline	Chr2:165992423	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349070819	rs_1553520530	4 SubmittersRCV000578728 RCV001387750 RCV002289845
NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter)	SNV Germline	Chr2:166037994	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349061512	rs_794726721	1 SubmittersRCV000585857
NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His)	SNV Germline	Chr2:166054747	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349075669	rs_1553551493	3 SubmittersRCV000585806 RCV005645106 RCV006463459
NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg)	SNV Germline	Chr2:166058615	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349076981	rs_1553553462	1 SubmittersRCV000585829
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile)	SNV Germline	Chr2:165994386	Conflicting classifications of pathogenicity	Condition: not provided Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases Early-infantile DEE	Criteria Provided Conflicting Classifications	CA1942758	rs_780360360	7 SubmittersRCV000587898 RCV000764285 RCV001262414 RCV002317333 RCV006463468
NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn)	SNV Germline	Chr2:165991287	Conflicting classifications of pathogenicity	Condition: not provided Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Conflicting Classifications	CA59797683	rs_371243629	4 SubmittersRCV000593278 RCV000764281 RCV006556312
NM_001330723.2(SNX27):c.1218C>G (p.Tyr406Ter)	SNV Germline	Chr1:151683424	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA341969737	rs_201966711	1 SubmittersRCV000638203
NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=)	SNV Germline	Chr2:166043909	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 not specified Early-infantile DEE	Criteria Provided Conflicting Classifications	CA1943246	rs_139403702	4 SubmittersRCV000768076 RCV000828047 RCV003224357 RCV004702227 RCV006608770
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)	SNV Germline	Chr2:165991462	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Conflicting Classifications	CA59797796	rs_915676341	3 SubmittersRCV001089689 RCV001706692 RCV006463746
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)	SNV Germline	Chr2:165991807	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349065960	rs_1559101839	4 SubmittersRCV001200252 RCV001253286 RCV006463930
NM_001165963.4(SCN1A):c.4581+5G>C	SNV Germline	Chr2:165996008	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA891842565	rs_1559114303	2 SubmittersRCV002289971 RCV006463923
NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro)	SNV Germline	Chr2:166054683	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Early-infantile DEE	Criteria Provided Conflicting Classifications	CA349075420	rs_1559245847	2 SubmittersRCV004796286 RCV006463990
NM_001165963.4(SCN1A):c.4319C>T (p.Ala1440Val)	SNV Germline	Chr2:165999742	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Acute encephalopathy Condition: not provided Early-infantile DEE	Criteria Provided Conflicting Classifications	CA349049565	rs_1559122124	3 SubmittersRCV001251425 RCV005620387 RCV006463947
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)	SNV Germline	Chr2:166013838	Pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349056157	rs_1559149128	2 SubmittersRCV000703313 RCV000986888
NM_001165963.4(SCN1A):c.311C>A (p.Ala104Asp)	SNV Germline	Chr2:166058642	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349077094	rs_1553553527	2 SubmittersRCV002283507 RCV006607697
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter)	SNV Germline	Chr2:166046793	Pathogenic	Condition: not provided Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349070329	rs_1553546668	3 SubmittersRCV000760615 RCV002500983 RCV006556619
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)	SNV Germline	Chr2:165992209	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Conflicting Classifications	CA349069410	rs_1559104676	3 SubmittersRCV000770782 RCV001004769 RCV006464177
NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile)	SNV Germline	Chr2:166002623	Likely pathogenic	Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349050331	rs_1131691775	1 SubmittersRCV000850510
NM_001165963.4(SCN1A):c.265-2143G>A	SNV Germline	Chr2:166060831	Likely pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA915942935	rs_1574312497	1 SubmittersRCV000855539
NM_001330723.2(SNX27):c.1237A>T (p.Met413Leu)	SNV Germline	Chr1:151683443	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1093613	rs_144336311	2 SubmittersRCV000879283 RCV002536812
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)	SNV Germline	Chr2:165992014	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349068336	rs_796053036	2 SubmittersRCV000986870 RCV006464894
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)	SNV Germline	Chr2:165992413	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349070729	rs_1573953706	2 SubmittersRCV000986872 RCV006464895
NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter)	SNV Unknown	Chr2:165994294	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349071964	rs_1573963975	1 SubmittersRCV000986875
NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys)	SNV Germline	Chr2:165998086	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349049307	rs_1573984110	2 SubmittersRCV000986879 RCV006464896
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)	SNV Germline	Chr2:165999734	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA349049554	rs_1573991676	2 SubmittersRCV000986880
NM_001165963.4(SCN1A):c.4003-1G>A	SNV Germline	Chr2:166002754	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349050905	rs_1574007140	2 SubmittersRCV000986882 RCV006464897
NM_001165963.4(SCN1A):c.3429+1G>T	SNV Germline	Chr2:166036047	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349058951	rs_1574166948	4 SubmittersRCV000986892 RCV001593162 RCV006464898
NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter)	SNV Unknown	Chr2:166036166	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349059329	rs_1574168611	1 SubmittersRCV000986893
NM_001165963.4(SCN1A):c.2691G>T (p.Leu897Phe)	SNV Unknown	Chr2:166038031	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349061588	rs_1574183148	1 SubmittersRCV000986895
NM_001165963.4(SCN1A):c.2415+1G>A	SNV Unknown	Chr2:166041230	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349063643	rs_886041292	1 SubmittersRCV000986897
NM_001165963.4(SCN1A):c.2131C>T (p.Gln711Ter)	SNV Germline	Chr2:166042337	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349065788	rs_1574209023	2 SubmittersRCV000986901 RCV006464899
NM_001165963.4(SCN1A):c.1543A>T (p.Lys515Ter)	SNV Unknown	Chr2:166045162	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349069422	rs_1553545567	1 SubmittersRCV000986905
NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile)	SNV Germline	Chr2:166046943	Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349070987	rs_796053094	2 SubmittersRCV000986906 RCV006556866
NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys)	SNV Unknown	Chr2:166047720	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349071317	rs_1574240716	1 SubmittersRCV000986907
NM_001165963.4(SCN1A):c.1028+1G>A	SNV Germline	Chr2:166048885	Pathogenic	Severe myoclonic epilepsy in infancy Seizure	Criteria Provided Single Submitter	CA349071536	rs_863225030	2 SubmittersRCV000986908 RCV002275232
NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys)	SNV Unknown	Chr2:166051741	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349072514	rs_1553549471	1 SubmittersRCV000986910
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr)	SNV Germline	Chr2:166051853	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349073101	rs_1574264920	2 SubmittersRCV000986911 RCV006464900
NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu)	SNV Unknown	Chr2:166052863	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349074053	rs_1574271644	1 SubmittersRCV000986914
NM_001165963.4(SCN1A):c.384-12A>C	SNV Unknown	Chr2:166056512	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA915942933	rs_1574291210	1 SubmittersRCV000986917
NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly)	SNV Unknown	Chr2:165992360	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349070273	rs_1573953030	1 SubmittersRCV001003341
NM_001165963.4(SCN1A):c.4676T>C (p.Met1559Thr)	SNV Germline	Chr2:165994322	Conflicting classifications of pathogenicity	Microcephaly Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Conflicting Classifications	CA349072113	rs_1689707865	4 SubmittersRCV001252702 RCV004720031 RCV005633803 RCV006464965
NM_001165963.4(SCN1A):c.2415+2T>C	SNV Germline	Chr2:166041229	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349063637	rs_1574201555	1 SubmittersRCV001027711
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly)	SNV Germline	Chr2:166073380	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Conflicting Classifications	CA349242686	rs_1684663181	2 SubmittersRCV001030755 RCV006465079
NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter)	SNV Germline	Chr2:166054701	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349075494	rs_1574281711	2 SubmittersRCV001089717 RCV006465139
NM_001165963.4(SCN1A):c.886A>G (p.Ile296Val)	SNV Germline	Chr2:166051797	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Condition: not provided Early-infantile DEE	Criteria Provided Conflicting Classifications	CA1943423	rs_373772491	3 SubmittersRCV002489571 RCV005415600 RCV006464723
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met)	SNV Germline	Chr2:166039490	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Inborn genetic diseases Early-infantile DEE	Criteria Provided Conflicting Classifications	CA1943098	rs_750901301	3 SubmittersRCV001729785 RCV002553797 RCV006464842
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu)	SNV Germline	Chr2:166037930	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349061364	rs_794726718	3 SubmittersRCV001038397 RCV001328666 RCV005622052
NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe)	SNV Germline	Chr2:166036506	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349060579	rs_1696401617	2 SubmittersRCV001809976 RCV006465265
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met)	SNV Germline	Chr2:166002708	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349050699	rs_1574006637	3 SubmittersRCV002283519 RCV006465151
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro)	SNV Germline	Chr2:165991507	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349064046	rs_1689139851	1 SubmittersRCV001089695
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro)	SNV Germline	Chr2:165991729	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349065489	rs_1689186812	1 SubmittersRCV001089696
NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)	SNV Germline	Chr2:165998086	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349049305	rs_1573984110	1 SubmittersRCV001089693
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)	SNV Germline	Chr2:166002662	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349050483	rs_1691073965	2 SubmittersRCV001089990 RCV006465332
NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr)	SNV Germline	Chr2:166041406	Conflicting classifications of pathogenicity	Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Conflicting Classifications	CA59791966	rs_980156920	4 SubmittersRCV001092115 RCV004819237 RCV006465344
NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro)	SNV Unknown	Chr2:166047686	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349071194	rs_1698009615	1 SubmittersRCV001095640
NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro)	SNV Germline	Chr2:166036502	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA349060568	rs_1696400496	2 SubmittersRCV001095667 RCV004796366
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His)	SNV Unknown	Chr2:165996069	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349048709	rs_1690003122	1 SubmittersRCV001169858
NM_001165963.4(SCN1A):c.2867T>C (p.Met956Thr)	SNV Germline	Chr2:166037855	Pathogenic/Likely pathogenic	Generalized epilepsy with febrile seizures plus, type 1 Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349061088	rs_1696619508	5 SubmittersRCV001171310 RCV003992456 RCV005601686 RCV006465530
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)	SNV Germline	Chr2:165999737	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA349049558	rs_1690574155	2 SubmittersRCV001194674
NM_001330723.2(SNX27):c.703C>T (p.Arg235Ter)	SNV Germline	Chr1:151658394	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA1093457	rs_770358039	2 SubmittersRCV001200362 RCV002560275
NM_001165963.4(SCN1A):c.4990A>C (p.Met1664Leu)	SNV Germline	Chr2:165992285	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349069850	rs_1689339718	2 SubmittersRCV001200253 RCV004761970
NM_001165963.4(SCN1A):c.1883C>A (p.Ser628Ter)	SNV Germline	Chr2:166043829	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349067369	rs_1697440060	2 SubmittersRCV004594251 RCV006465898
NM_001165963.4(SCN1A):c.5051A>G (p.Tyr1684Cys)	SNV Germline	Chr2:165992224	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349069478	rs_1689321394	2 SubmittersRCV004699130 RCV006465840
NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro)	SNV Germline	Chr2:165994223	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Conflicting Classifications	CA349071572	rs_1689684958	2 SubmittersRCV003992462 RCV006465759
NM_001165963.4(SCN1A):c.3879+5G>T	SNV Germline	Chr2:166012104	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Conflicting Classifications	CA1139657299	rs_796052999	3 SubmittersRCV001216784 RCV003339537 RCV003142161
NM_001165963.4(SCN1A):c.474-1G>A	SNV Germline	Chr2:166054767	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349075748	rs_1698962501	2 SubmittersRCV003313993 RCV006465865
NM_001165963.4(SCN1A):c.5293T>C (p.Phe1765Leu)	SNV Germline	Chr2:165991982	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA349068266	rs_1689251604	2 SubmittersRCV003992474 RCV006466062
NM_001165963.4(SCN1A):c.3478G>A (p.Gly1160Ser)	SNV Germline	Chr2:166015679	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Inborn genetic diseases Early-infantile DEE	Criteria Provided Conflicting Classifications	CA1942946	rs_776752552	3 SubmittersRCV002504309 RCV005268989 RCV006608544
NM_001165963.4(SCN1A):c.2796G>A (p.Trp932Ter)	SNV Germline	Chr2:166037926	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349061357	rs_1553541303	2 SubmittersRCV005622083 RCV006465989
NM_001165963.4(SCN1A):c.2369A>T (p.Tyr790Phe)	SNV Germline	Chr2:166041277	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Febrile seizures, familial, 1 Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA1943130	rs_121918782	6 SubmittersRCV005630896 RCV005860199 RCV005863391 RCV005866885 RCV006557230
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter)	SNV Germline	Chr2:166051844	Pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349073036	rs_1698593264	3 SubmittersRCV002249823 RCV002497799 RCV006466027
NM_001165963.4(SCN1A):c.576G>A (p.Trp192Ter)	SNV Germline	Chr2:166054664	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA349075345	rs_1553551361	2 SubmittersRCV001240448 RCV005909138
NM_001165963.4(SCN1A):c.4581+1G>A	SNV Germline	Chr2:165996012	Pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Ovarian serous cystadenocarcinoma Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349048537	rs_1689986058	4 SubmittersRCV002246223 RCV002290651 RCV005909109 RCV006466036
NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys)	SNV Germline	Chr2:166058608	Pathogenic	Severe myoclonic epilepsy in infancy Familial hemiplegic migraine Generalized epilepsy with febrile seizures plus Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349076939	rs_61741123	3 SubmittersRCV001249174 RCV002508953 RCV006557243
NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter)	SNV Germline	Chr2:166052940	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349074425	rs_374555589	1 SubmittersRCV001250741
NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala)	SNV Germline	Chr2:166047725	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349071329	rs_121917923	1 SubmittersRCV001253422
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile)	SNV Germline	Chr2:166054755	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349075694	rs_1698960532	3 SubmittersRCV001253083 RCV003325310 RCV006466133
NM_001165963.4(SCN1A):c.4581+18A>G	SNV Germline	Chr2:165995995	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA1139655698	rs_1689981394	1 SubmittersRCV001253126
NM_001165963.4(SCN1A):c.4002+1G>T	SNV Germline	Chr2:166009718	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA349052816	rs_1692153643	3 SubmittersRCV001253084 RCV001507579 RCV001528184
NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg)	SNV Germline	Chr2:166036514	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349060603	rs_1696403356	1 SubmittersRCV001256670
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly)	SNV Unknown	Chr2:165992095	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349068751	rs_1689278062	2 SubmittersRCV001261536
NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp)	SNV Germline	Chr2:166052917	Likely pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349074304	rs_1698747852	2 SubmittersRCV001262229 RCV001775164
NM_001165963.4(SCN1A):c.4871T>C (p.Leu1624Pro)	SNV Unknown	Chr2:165992404	Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349070658	rs_1689377026	2 SubmittersRCV001288396 RCV003992489
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser)	SNV Germline	Chr2:165992102	Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349068793	rs_1689280236	3 SubmittersRCV001289475 RCV006557319 RCV006446096
NM_001165963.4(SCN1A):c.5797C>T (p.Arg1933Ter)	SNV Germline	Chr2:165991478	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Conflicting Classifications	CA349063799	rs_1351809843	3 SubmittersRCV005860210 RCV006455615 RCV006466288
NM_001165963.4(SCN1A):c.2691G>C (p.Leu897Phe)	SNV Germline	Chr2:166038031	Likely pathogenic	Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3	Criteria Provided Multiple Submitters No Conflicts	CA349061589	rs_1574183148	2 SubmittersRCV001311217 RCV006605331
NM_001165963.4(SCN1A):c.1377G>A (p.Gln459=)	SNV Germline	Chr2:166046770	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA429902838	rs_1697877323	3 SubmittersRCV001311220 RCV005861231
NM_001165963.4(SCN1A):c.1662+1G>C	SNV Germline	Chr2:166045042	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349068217	rs_794726749	2 SubmittersRCV001328665 RCV006557368
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala)	SNV Germline	Chr2:166048928	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349071694	rs_779184118	3 SubmittersRCV001334845 RCV004789531 RCV006466520
NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp)	SNV Germline	Chr2:165991694	Pathogenic/Likely pathogenic	Seizure Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349065361	rs_760906812	3 SubmittersRCV001353143 RCV005243521 RCV006466652
NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro)	SNV Germline	Chr2:166047628	Pathogenic/Likely pathogenic	Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349071063	rs_746413385	2 SubmittersRCV004546642 RCV006466727
NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu)	SNV Germline	Chr2:166047760	Likely pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349071447	rs_2105868295	1 SubmittersRCV001374630
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)	SNV Germline	Chr2:165991967	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349068196	rs_1573947939	1 SubmittersRCV001375625
NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter)	SNV Germline	Chr2:166013837	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349056154	rs_1553532671	2 SubmittersRCV001375622 RCV006466796
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)	SNV Germline	Chr2:166047679	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349071179	rs_1553547448	2 SubmittersRCV001375626 RCV006557418
NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg)	SNV Germline	Chr2:166056450	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349075975	rs_121918631	1 SubmittersRCV001375629
NM_001165963.4(SCN1A):c.2618G>A (p.Trp873Ter)	SNV Germline	Chr2:166038104	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA349061739	rs_2105808640	2 SubmittersRCV003326150 RCV006466891
NM_001165963.4(SCN1A):c.2244G>A (p.Trp748Ter)	SNV Germline	Chr2:166041402	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349064931	rs_1553543340	3 SubmittersRCV001816000 RCV004596450 RCV006466839
NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val)	SNV Germline	Chr2:166051871	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349073215	rs_2105889854	2 SubmittersRCV002283547 RCV006466861
NM_001330723.2(SNX27):c.802-4C>T	SNV Germline	Chr1:151662162	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1093500	rs_373727297	2 SubmittersRCV001393545 RCV002552662
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)	SNV Germline	Chr2:165994397	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349072336	rs_2105449751	2 SubmittersRCV001420146 RCV006467057
NM_001165963.4(SCN1A):c.5300T>A (p.Val1767Asp)	SNV Germline	Chr2:165991975	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349068223	rs_2105429648	1 SubmittersRCV001788511
NM_001165963.4(SCN1A):c.2791C>A (p.Arg931Ser)	SNV Germline	Chr2:166037931	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349061365	rs_121918788	3 SubmittersRCV001530193 RCV006557504
NM_001165963.4(SCN1A):c.787C>G (p.Leu263Val)	SNV Germline	Chr2:166051896	Pathogenic	Familial hemiplegic migraine Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA349073374	rs_2105890052	3 SubmittersRCV001533164 RCV003992532 RCV006467651
NM_001165963.4(SCN1A):c.4477-3T>A	SNV Germline	Chr2:165996120	Likely pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA2499215186	rs_1690013843	1 SubmittersRCV001533454
NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter)	SNV Unknown	Chr2:165991787	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349065806	rs_1553520103	1 SubmittersRCV001535823
NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr)	SNV Germline	Chr2:166037876	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349061185	rs_1696624989	4 SubmittersRCV001535825 RCV001552269 RCV005429056 RCV006557515
NM_001165963.4(SCN1A):c.4852G>A (p.Gly1618Ser)	SNV Germline	Chr2:165994146	Likely pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349071219	rs_2105447216	1 SubmittersRCV001837541
NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile)	SNV Germline	Chr2:166009832	Conflicting classifications of pathogenicity	Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Conflicting Classifications	CA349053504	rs_1260685558	3 SubmittersRCV001588181 RCV002275213 RCV006467742
NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr)	SNV Unknown	Chr2:166012126	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349053910	rs_1553531134	1 SubmittersRCV001706948
NM_001165963.4(SCN1A):c.1247A>G (p.Asn416Ser)	SNV Germline	Chr2:166046900	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349070890	rs_2105862220	2 SubmittersRCV001724786
NM_001165963.4(SCN1A):c.4284+1G>A	SNV Germline	Chr2:166002471	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349049862	rs_1553524865	1 SubmittersRCV001731221
NM_001165963.4(SCN1A):c.840G>A (p.Trp280Ter)	SNV Germline	Chr2:166051843	Pathogenic	Condition: not provided Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B	Criteria Provided Multiple Submitters No Conflicts	CA349073027	rs_1553549667	2 SubmittersRCV001784939 RCV005023255
NM_001165963.4(SCN1A):c.4582-2A>G	SNV Germline	Chr2:165994418	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Single Submitter	CA349072391	rs_2105449932	2 SubmittersRCV001794532 RCV006557735
NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val)	SNV Germline	Chr2:165998091	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349049328	rs_2105476084	1 SubmittersRCV001797854
NM_001165963.4(SCN1A):c.758T>C (p.Leu253Pro)	SNV Germline	Chr2:166051925	Likely pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349073567	rs_2105890296	1 SubmittersRCV001814639
NM_001165963.4(SCN1A):c.4322C>T (p.Ala1441Val)	SNV Germline	Chr2:165999739	Pathogenic/Likely pathogenic	Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349049563	rs_2105486615	2 SubmittersRCV004796692 RCV006468589
NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly)	SNV Germline	Chr2:166045248	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Conflicting Classifications	CA1943301	rs_777120925	2 SubmittersRCV002503405 RCV006610496
NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter)	SNV Germline	Chr2:166036353	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349059897	rs_1553540342	2 SubmittersRCV003228035 RCV006468546
NM_001165963.4(SCN1A):c.76G>T (p.Glu26Ter)	SNV Germline	Chr2:166073546	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA60270532	rs_76921794	2 SubmittersRCV005253949 RCV006468550
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser)	SNV Germline	Chr2:166051872	Pathogenic/Likely pathogenic	Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349073228	rs_2105889878	3 SubmittersRCV002479417 RCV005232717 RCV006468429
NM_001330723.2(SNX27):c.652C>T (p.Arg218Ter)	SNV Germline	Chr1:151658343	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA341958796	rs_2102676931	1 SubmittersRCV001997033
NM_001165963.4(SCN1A):c.1175T>C (p.Leu392Ser)	SNV Germline	Chr2:166046972	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Early-infantile DEE	Criteria Provided Conflicting Classifications	CA349071043	rs_2105862926	2 SubmittersRCV004796697 RCV006468729
NM_001330723.2(SNX27):c.1426C>T (p.Arg476Ter)	SNV Germline	Chr1:151692947	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA341972939	rs_1346732190	1 SubmittersRCV001877806
NM_001330723.2(SNX27):c.1431G>A (p.Trp477Ter)	SNV Germline	Chr1:151692952	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA341972964	rs_574654968	1 SubmittersRCV001975053
NM_001165963.4(SCN1A):c.352A>G (p.Arg118Gly)	SNV Germline	Chr2:166058601	Likely pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349076917	rs_2105917940	1 SubmittersRCV002251785
NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr)	SNV Unknown	Chr2:165999743	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349049570	rs_2105486716	1 SubmittersRCV002267698
NM_001165963.4(SCN1A):c.2806G>C (p.Asp936His)	SNV Germline	Chr2:166037916	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349061332	rs_796052988	1 SubmittersRCV002276250
NM_001165963.4(SCN1A):c.4585A>T (p.Lys1529Ter)	SNV Germline	Chr2:165994413	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349072378	rs_1553521087	1 SubmittersRCV002283736
NM_001165963.4(SCN1A):c.835C>T (p.Gln279Ter)	SNV Germline	Chr2:166051848	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349073058	rs_1553549679	1 SubmittersRCV002283766
NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)	SNV Germline	Chr2:165991981	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349068257	rs_1553520199	1 SubmittersRCV002283806
NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser)	SNV Germline	Chr2:165998096	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349049338	rs_2468394208	1 SubmittersRCV002284136
NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter)	SNV Germline	Chr2:165998134	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349049420	rs_2468394870	2 SubmittersRCV002284137 RCV006558753
NM_001165963.4(SCN1A):c.2846G>T (p.Cys949Phe)	SNV Germline	Chr2:166037876	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349061182	rs_1696624989	1 SubmittersRCV002284138
NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro)	SNV Germline	Chr2:166002578	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349050166	rs_2468435194	1 SubmittersRCV002284139
NM_001165963.4(SCN1A):c.1377+1G>A	SNV Germline	Chr2:166046769	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349070173	rs_886043864	1 SubmittersRCV002284147
NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)	SNV Germline	Chr2:165992098	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349068772	rs_2105431458	2 SubmittersRCV002289212 RCV006470446
NM_001165963.4(SCN1A):c.4493T>C (p.Ile1498Thr)	SNV Germline	Chr2:165996101	Likely pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349048857	rs_796053017	2 SubmittersRCV002290267 RCV003992625
NM_001165963.4(SCN1A):c.474-2A>G	SNV Germline	Chr2:166054768	Pathogenic	Inborn genetic diseases Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349075752	rs_2468248065	2 SubmittersRCV002335526 RCV004577923
NM_001165963.4(SCN1A):c.5564C>A (p.Pro1855His)	SNV Germline	Chr2:165991711	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349065433	rs_1057517958	1 SubmittersRCV002463570
NM_001165963.4(SCN1A):c.1006T>C (p.Cys336Arg)	SNV Germline	Chr2:166048908	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349071610	rs_398123578	1 SubmittersRCV002466351
NM_001165963.4(SCN1A):c.4003-4T>G	SNV Germline	Chr2:166002757	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA2580064432	rs_2468438327	1 SubmittersRCV002466354
NM_001165963.4(SCN1A):c.4279C>T (p.Gln1427Ter)	SNV Germline	Chr2:166002477	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349049871	rs_1553524889	1 SubmittersRCV002468781
NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)	SNV Germline	Chr2:166012151	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349054076	rs_1303080207	1 SubmittersRCV002471421
NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)	SNV Germline	Chr2:165992391	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Conflicting Classifications	CA349070551	rs_2468341232	3 SubmittersRCV002510640 RCV003493962 RCV006471452
NM_001165963.4(SCN1A):c.4072T>C (p.Trp1358Arg)	SNV Germline	Chr2:166002684	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349050613	rs_2468437301	2 SubmittersRCV005208197 RCV006472762
NM_001165963.4(SCN1A):c.3982T>C (p.Ser1328Pro)	SNV Germline	Chr2:166009739	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349052944	rs_2468493029	2 SubmittersRCV005254720 RCV006472763
NM_001165963.4(SCN1A):c.7C>T (p.Gln3Ter)	SNV Germline	Chr2:166073615	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349243507	rs_924198007	2 SubmittersRCV004763552 RCV006472782
NM_001165963.4(SCN1A):c.2589+1G>C	SNV Germline	Chr2:166039422	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349062298	rs_1057517849	1 SubmittersRCV002510675
NM_001330723.2(SNX27):c.1492C>T (p.Arg498Ter)	SNV Germline	Chr1:151693013	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA341973317	rs_1571881557	1 SubmittersRCV002862358
NM_001165963.4(SCN1A):c.947C>A (p.Ser316Ter)	SNV Germline	Chr2:166051736	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349072489	rs_2468220881	2 SubmittersRCV003483899 RCV006560037
NM_001165963.4(SCN1A):c.2720T>G (p.Val907Gly)	SNV Germline	Chr2:166038002	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349061526	rs_2468098623	1 SubmittersRCV002789969
NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter)	SNV Germline	Chr2:166045239	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349069707	rs_1553545740	1 SubmittersRCV003128170
NM_001165963.4(SCN1A):c.1171-1G>A	SNV Germline	Chr2:166046977	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349071055	rs_2468182873	3 SubmittersRCV003159277 RCV005241257 RCV006561116
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)	SNV Germline	Chr2:165998102	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA349049351	rs_794726809	3 SubmittersRCV003226889 RCV003235813 RCV005273645
NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)	SNV Unknown	Chr2:165998135	Likely pathogenic	Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349049423	rs_2468394894	1 SubmittersRCV003234626
NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro)	SNV Germline	Chr2:165992368	Likely pathogenic	Severe myoclonic epilepsy in infancy SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA349070330	rs_121917995	2 SubmittersRCV003234956 RCV005870125
NM_001165963.4(SCN1A):c.4943G>C (p.Arg1648Pro)	SNV Germline	Chr2:165992332	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA349070084	rs_121918622	3 SubmittersRCV003312497 RCV004763643
NM_001165963.4(SCN1A):c.1186G>A (p.Gly396Arg)	SNV Germline	Chr2:166046961	Pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349071025	rs_2468182612	2 SubmittersRCV003314358 RCV006561401
NM_001165963.4(SCN1A):c.965-2A>G	SNV Unknown	Chr2:166048951	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349071831	rs_2468200648	1 SubmittersRCV003459827
NM_001165963.4(SCN1A):c.2344A>C (p.Thr782Pro)	SNV Germline	Chr2:166041302	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349064135	rs_1574202324	1 SubmittersRCV003324608
NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro)	SNV Germline	Chr2:165994229	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349071613	rs_2468358829	1 SubmittersRCV003326175
NM_001165963.4(SCN1A):c.1843G>A (p.Gly615Arg)	SNV Germline	Chr2:166043869	Conflicting classifications of pathogenicity	SCN1A-related disorder Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy 6B Early-infantile DEE	Criteria Provided Conflicting Classifications	CA349067476	rs_1271824691	3 SubmittersRCV004536742 RCV005021958 RCV006561599
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)	SNV Germline	Chr2:166002632	Likely pathogenic	Severe myoclonic epilepsy in infancy Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA349050370	rs_2468436385	2 SubmittersRCV003455878 RCV006561664
NM_001165963.4(SCN1A):c.2415+1G>T	SNV Unknown	Chr2:166041230	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349063647	rs_886041292	1 SubmittersRCV003485998
NM_001165963.4(SCN1A):c.173G>T (p.Gly58Val)	SNV Germline	Chr2:166073449	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349242938	rs_2468365428	1 SubmittersRCV003494564
NM_001330723.2(SNX27):c.1072C>T (p.Arg358Ter)	SNV Germline	Chr1:151668558	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA341966249	rs_2525037609	1 SubmittersRCV003508185
NM_001330723.2(SNX27):c.1474C>T (p.Arg492Ter)	SNV Germline	Chr1:151692995	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA341973191	rs_2525156811	1 SubmittersRCV003616254
NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)	SNV Germline	Chr2:166073381	Pathogenic	Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B	Criteria Provided Single Submitter	CA349242691	rs_2468364026	1 SubmittersRCV003883276
NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)	SNV Germline	Chr2:166046862	Pathogenic	Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B	Criteria Provided Single Submitter	CA349070767	rs_1455927233	1 SubmittersRCV003883365
NM_001165963.4(SCN1A):c.530G>C (p.Gly177Ala)	SNV Germline	Chr2:166054710	Pathogenic	Severe myoclonic epilepsy in infancy SCN1A-related disorder	Criteria Provided Single Submitter	CA349075527	rs_121918770	2 SubmittersRCV003992841 RCV005871488
NM_001165963.4(SCN1A):c.706A>G (p.Ile236Val)	SNV Germline	Chr2:166051977	Likely pathogenic	Severe myoclonic epilepsy in infancy Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis (NDEEMA)	Criteria Provided Single Submitter	CA349073838	rs_2468225401	2 SubmittersRCV003992843 RCV005623546
NM_001165963.4(SCN1A):c.437C>A (p.Thr146Lys)	SNV Germline	Chr2:166056447	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349075965	rs_2468258442	1 SubmittersRCV003989929
NM_001165963.4(SCN1A):c.2432T>C (p.Phe811Ser)	SNV Germline	Chr2:166039580	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349062761	rs_2468115658	1 SubmittersRCV003989079
NM_001165963.4(SCN1A):c.3668T>G (p.Phe1223Cys)	SNV Germline	Chr2:166013781	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349055866	rs_2468531169	1 SubmittersRCV003990578
NM_001165963.4(SCN1A):c.5170G>C (p.Ala1724Pro)	SNV Germline	Chr2:165992105	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349068804	rs_2468336343	1 SubmittersRCV003989364

NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His)

SNV
Germline

Chr2:165992332

Pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Condition: not provided
Autosomal dominant epilepsy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA256584

rs_121918622

6 SubmittersRCV000013742 RCV000059521 RCV000484119 RCV001192959 RCV006461146

NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)

SNV
Germline

Chr2:166038098

Pathogenic/Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 1
Condition: not provided
Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Seizure
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA256587

rs_121918623

11 SubmittersRCV000013743 RCV000059471 RCV001311218 RCV001253103 RCV002316193 RCV004554602 RCV004724740 RCV006461147

NM_001165963.4(SCN1A):c.4057G>C (p.Val1353Leu)

SNV
Germline

Chr2:166002699

Pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 1
Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA256593

rs_121917954

3 SubmittersRCV000013745 RCV000059409 RCV003992150

NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met)

SNV
Germline

Chr2:165992307

Pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 1
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA256596

rs_121917955

4 SubmittersRCV000013746 RCV000059433 RCV003992151 RCV006461148

NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)

SNV
Germline

Chr2:166052882

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Intellectual disability
Inborn genetic diseases
Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Febrile seizures, familial, 3a
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA273115

rs_121918624

16 SubmittersRCV000032604 RCV000188841 RCV000763461 RCV001257707 RCV002316194 RCV003388823 RCV005243098 RCV006461149

NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe)

SNV
Germline

Chr2:166036521

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA281911

rs_121918625

4 SubmittersRCV000032605 RCV006461150

NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys)

SNV
Germline

Chr2:165998049

Pathogenic

Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA256608

rs_121918628

3 SubmittersRCV000013753 RCV003992152

NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)

SNV
Germline

Chr2:165992149

Pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA256611

rs_121918629

4 SubmittersRCV000013755 RCV000013754 RCV006461152

NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe)

SNV
Germline

Chr2:165994167

Pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

No Assertion Criteria Provided

CA256614

rs_121918630

3 SubmittersRCV000013756 RCV000013757

NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr)

SNV
Germline

Chr2:166056450

Pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Febrile seizures, familial, 3a
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA256617

rs_121918631

5 SubmittersRCV000013758 RCV000255880 RCV000993711 RCV003595856 RCV003992153

NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu)

SNV
Germline

Chr2:165996099

Pathogenic

Migraine, familial hemiplegic, 3
Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA256620

rs_121918632

6 SubmittersRCV000013765 RCV001090363 RCV003992154 RCV006461154

NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu)

SNV
Germline

Chr2:165992269

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA281748

rs_397514458

2 SubmittersRCV000022764 RCV006461216

NM_001165963.4(SCN1A):c.2584C>G (p.Arg862Gly)

SNV
Germline

Chr2:166039428

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA281752

rs_397514459

1 SubmittersRCV000022765

NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr)

SNV
Germline

Chr2:166047725

Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Single Submitter

CA284856

rs_121917923

2 SubmittersRCV000059372 RCV000997285

NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln)

SNV
Germline

Chr2:166047667

Pathogenic/Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 1
Severe myoclonic epilepsy in infancy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA266086

rs_121917957

7 SubmittersRCV000059374 RCV000180936 RCV000188861 RCV001775078 RCV006461352

NM_001165963.4(SCN1A):c.1177C>A (p.Arg393Ser)

SNV
Germline

Chr2:166046970

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA284865

rs_121917929

2 SubmittersRCV000059376 RCV006461353

NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)

SNV
Germline

Chr2:166046970

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Seizure
Mild intellectual disability
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA284868

rs_121917929

11 SubmittersRCV000059377 RCV000188854 RCV000857236 RCV002262611 RCV005867845 RCV006606222

NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)

SNV
Germline

Chr2:166046969

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Migraine, familial hemiplegic, 3
Seizure
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA284871

rs_121917927

16 SubmittersRCV000059378 RCV000188863 RCV001198232 RCV005624314 RCV006607041

NM_001165963.4(SCN1A):c.1207T>C (p.Phe403Leu)

SNV
Germline

Chr2:166046940

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA284874

rs_121917966

3 SubmittersRCV000059380 RCV002345371 RCV006461354

NM_001165963.4(SCN1A):c.1237T>A (p.Tyr413Asn)

SNV
Unknown

Chr2:166046910

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA284877

rs_121917967

3 SubmittersRCV000059381

NM_001165963.4(SCN1A):c.1876A>G (p.Ser626Gly)

SNV
Germline

Chr2:166043836

Pathogenic

Generalized epilepsy
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA145235

rs_121917990

2 SubmittersRCV000059384 RCV000180909

NM_001165963.4(SCN1A):c.2435C>G (p.Thr812Arg)

SNV
Germline

Chr2:166039577

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA284895

rs_121917941

2 SubmittersRCV000059390 RCV006461356

NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys)

SNV
Germline

Chr2:166073371

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA284901

rs_121917964

5 SubmittersRCV000059392 RCV000255485 RCV000763463 RCV006461357

NM_001165963.4(SCN1A):c.2825T>C (p.Leu942Pro)

SNV
Germline

Chr2:166037897

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA284904

rs_121917943

2 SubmittersRCV000059393 RCV006555396

NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)

SNV
Germline

Chr2:166037885

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Seizure
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases
Developmental and epileptic encephalopathy 6B
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA284910

rs_121917971

13 SubmittersRCV000059395 RCV000378734 RCV001264404 RCV001004709 RCV002433566 RCV004595905 RCV006555397

NM_001165963.4(SCN1A):c.2849G>A (p.Gly950Glu)

SNV
Germline

Chr2:166037873

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Single Submitter

CA284913

rs_121917972

2 SubmittersRCV000059396 RCV000429753

NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)

SNV
Germline

Chr2:166058652

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Migraine, familial hemiplegic, 3
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA284919

rs_121917965

9 SubmittersRCV000059399 RCV000357692 RCV001199316 RCV006555398

NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)

SNV
Germline

Chr2:166058651

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA273119

rs_121917918

12 SubmittersRCV000059400 RCV000188829 RCV001197275 RCV004796001 RCV005638416 RCV006555399

NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)

SNV
Germline

Chr2:166013829

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA284925

rs_121917963

3 SubmittersRCV000059403 RCV002054912 RCV006461359

NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg)

SNV
Germline

Chr2:166013752

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA284928

rs_121917911

2 SubmittersRCV000059404 RCV006461360

NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)

SNV
Germline

Chr2:166012274

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Condition: not provided
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA234849

rs_121917973

8 SubmittersRCV000059405 RCV000723903 RCV001836728 RCV005480321 RCV006609485

NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)

SNV
Germline

Chr2:166012254

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA284931

rs_121917912

7 SubmittersRCV000059406 RCV000188926 RCV001836729 RCV004796002 RCV006461361

NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)

SNV
Germline

Chr2:166009797

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Condition: not provided
not specified
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA231476

rs_121917910

16 SubmittersRCV000059407 RCV000118242 RCV000188828 RCV001133131 RCV001133132 RCV002313742 RCV004542732 RCV006555400

NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met)

SNV
Germline

Chr2:166002753

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Condition: not provided
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA284934

rs_121917960

5 SubmittersRCV000059408 RCV003352765 RCV006272366 RCV006461362

NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)

SNV
Germline

Chr2:166002588

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Inborn genetic diseases
Seizure
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA284940

rs_121917986

11 SubmittersRCV000059411 RCV000254970 RCV002326783 RCV006261948 RCV006461363

NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly)

SNV
Germline

Chr2:166002570

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA284943

rs_121917987

2 SubmittersRCV000059412 RCV006461364

NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys)

SNV
Germline

Chr2:166002491

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA284949

rs_121917913

3 SubmittersRCV000059414 RCV005000993 RCV006607976

NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro)

SNV
Germline

Chr2:165999740

Likely pathogenic

Severe myoclonic epilepsy in infancy
Inborn genetic diseases

Criteria Provided
Single Submitter

CA284958

rs_121917974

2 SubmittersRCV000059417 RCV001267274

NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu)

SNV
Germline

Chr2:165998162

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
See cases
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA284961

rs_121917945

4 SubmittersRCV000059418 RCV003224861 RCV006461365

NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser)

SNV
Germline

Chr2:165994370

Conflicting classifications of pathogenicity

Focal epilepsy
Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA145246

rs_121917992

6 SubmittersRCV000059424 RCV000726740 RCV001333850 RCV006555402

NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)

SNV
Germline

Chr2:165994365

Pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Early-infantile DEE
Condition: not provided
Autosomal dominant SCN1A-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA284976

rs_121917975

6 SubmittersRCV000059425 RCV001249684 RCV006461366 RCV005251055 RCV006554448

NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg)

SNV
Germline

Chr2:165994236

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA284979

rs_121917919

3 SubmittersRCV000059426 RCV000188974 RCV006607042

NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)

SNV
Germline

Chr2:165994212

Pathogenic/Likely pathogenic

Focal epilepsy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Autosomal dominant epilepsy
Seizure
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA145250

rs_121917993

13 SubmittersRCV000059427 RCV000188978 RCV001031013 RCV001253159 RCV002265592 RCV005624315 RCV006362051 RCV006607043

NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)

SNV
Germline

Chr2:165994176

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA284982

rs_121917915

6 SubmittersRCV000059428 RCV005000994 RCV006607044

NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met)

SNV
Germline

Chr2:165992387

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA284988

rs_121917914

3 SubmittersRCV000059430 RCV001781396 RCV006461367

NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)

SNV
Germline

Chr2:165992341

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA284991

rs_121917976

8 SubmittersRCV000059432 RCV000188986 RCV000763457 RCV001198988 RCV002316217 RCV006461369

NM_001165963.4(SCN1A):c.5141T>G (p.Met1714Arg)

SNV
Germline

Chr2:165992134

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Single Submitter

CA285003

rs_121917949

2 SubmittersRCV000059439 RCV004566910

NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg)

SNV
Germline

Chr2:165992129

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285006

rs_121917926

4 SubmittersRCV000059440 RCV000188987 RCV006555403

NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu)

SNV
Unknown

Chr2:165991990

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA285012

rs_121917950

2 SubmittersRCV000059442

NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe)

SNV
Germline

Chr2:165991957

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA285015

rs_121917951

2 SubmittersRCV000059443 RCV006461371

NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr)

SNV
Germline

Chr2:165991936

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA285018

rs_121917952

2 SubmittersRCV000059444 RCV006461372

NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)

SNV
Germline

Chr2:165991928

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285021

rs_121917980

10 SubmittersRCV000059445 RCV000188999 RCV001849308 RCV002468563 RCV002490666 RCV006461373

NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)

SNV
Germline

Chr2:165991927

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285024

rs_121917921

6 SubmittersRCV000059446 RCV000189000 RCV006461374

NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr)

SNV
Germline

Chr2:165991510

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA285030

rs_121917981

3 SubmittersRCV000189020 RCV000059449 RCV002470754

NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)

SNV
Germline

Chr2:166054660

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Inborn genetic diseases
Seizure
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Febrile seizures, familial, 3a
Autosomal dominant epilepsy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285033

rs_121917935

13 SubmittersRCV000059451 RCV000522680 RCV004019070 RCV005624316 RCV005243110 RCV005406802 RCV006607045

NM_001165963.4(SCN1A):c.650C>A (p.Thr217Lys)

SNV
Germline

Chr2:166052896

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285039

rs_121917936

3 SubmittersRCV000059453 RCV006461376

NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)

SNV
Germline

Chr2:166052869

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Seizure
Global developmental delay
Developmental and epileptic encephalopathy 6B
Developmental and epileptic encephalopathy, 6A
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285042

rs_121917984

16 SubmittersRCV000059454 RCV000188843 RCV000763460 RCV001003956 RCV001420531 RCV002470755 RCV003764743 RCV006606223

NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser)

SNV
Germline

Chr2:166052866

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285045

rs_121917937

8 SubmittersRCV000059455 RCV000188842 RCV006607046

NM_001165963.4(SCN1A):c.715G>A (p.Ala239Thr)

SNV
Germline

Chr2:166051968

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285048

rs_121917985

3 SubmittersRCV000059456 RCV006555404

NM_001165963.4(SCN1A):c.716C>T (p.Ala239Val)

SNV
Germline

Chr2:166051967

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA285051

rs_121917909

2 SubmittersRCV000059457

NM_001165963.4(SCN1A):c.838T>C (p.Trp280Arg)

SNV
Germline

Chr2:166051845

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285054

rs_121917938

3 SubmittersRCV000059459 RCV006555405

NM_001165963.4(SCN1A):c.965G>T (p.Arg322Ile)

SNV
Germline

Chr2:166048949

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA285057

rs_121917928

2 SubmittersRCV000059460 RCV006461378

NM_001165963.4(SCN1A):c.1028G>A (p.Gly343Asp)

SNV
Germline

Chr2:166048886

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285060

rs_121918753

3 SubmittersRCV000059461 RCV002381374 RCV006461379

NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe)

SNV
Germline

Chr2:166046931

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA248047

rs_121918768

4 SubmittersRCV000059463 RCV000180562 RCV006461381

NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)

SNV
Germline

Chr2:166045080

Conflicting classifications of pathogenicity

Autism
not specified
Severe myoclonic epilepsy in infancy
Epilepsy
Self-limited epilepsy with centrotemporal spikes
Severe myoclonic epilepsy in infancy
Intellectual disability
Condition: not provided
Inborn genetic diseases
SCN1A-related disorder
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA234872

rs_121918817

19 SubmittersRCV000059464 RCV000118239 RCV000578859 RCV000655983 RCV000789040 RCV001252611 RCV001705717 RCV002316218 RCV004537265 RCV005394297 RCV006606224

NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys)

SNV
Germline

Chr2:166041277

Pathogenic

Generalized epilepsy with febrile seizures plus, type 1
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA266101

rs_121918782

3 SubmittersRCV000059466 RCV003992173 RCV006461382

NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)

SNV
Germline

Chr2:166039427

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA285069

rs_121918785

6 SubmittersRCV000059469 RCV000591357 RCV006461384

NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys)

SNV
Germline

Chr2:166038098

Likely pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Single Submitter

CA285072

rs_121918623

2 SubmittersRCV000059470 RCV002247463

NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser)

SNV
Germline

Chr2:166058684

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285078

rs_121918733

4 SubmittersRCV000059473 RCV000332135 RCV006461385

NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr)

SNV
Germline

Chr2:166058681

Pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285081

rs_121918734

4 SubmittersRCV000059474 RCV003157390 RCV006461386

NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)

SNV
Germline

Chr2:166037931

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA273369

rs_121918788

8 SubmittersRCV000059475 RCV000188897 RCV004542733 RCV006607047

NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr)

SNV
Germline

Chr2:166037907

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA285087

rs_121918736

4 SubmittersRCV000059477 RCV001548630

NM_001165963.4(SCN1A):c.2831T>C (p.Val944Ala)

SNV
Germline

Chr2:166037891

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA285093

rs_121917969

2 SubmittersRCV000059479 RCV006607048

NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys)

SNV
Germline

Chr2:166037886

Pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA269785

rs_121918775

10 SubmittersRCV000059481 RCV000118240 RCV000189085 RCV006607049

NM_001165963.4(SCN1A):c.2854T>G (p.Trp952Gly)

SNV
Germline

Chr2:166037868

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA285099

rs_121918737

2 SubmittersRCV000059482

NM_001165963.4(SCN1A):c.2860G>A (p.Glu954Lys)

SNV
Germline

Chr2:166037862

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA285102

rs_121918786

2 SubmittersRCV000059483 RCV006461387

NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg)

SNV
Germline

Chr2:166037847

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285105

rs_121918796

4 SubmittersRCV000059484 RCV006461388

NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val)

SNV
Germline

Chr2:166037844

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA285108

rs_121918750

3 SubmittersRCV000059485 RCV000817420 RCV002247464

NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg)

SNV
Germline

Chr2:166037787

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285111

rs_121918754

5 SubmittersRCV000059486 RCV000519810 RCV006461389

NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile)

SNV
Germline

Chr2:166058618

Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285126

rs_121918745

4 SubmittersRCV000059492 RCV000433130 RCV006461390

NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)

SNV
Germline

Chr2:166015636

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
not specified
Seizure
Bilateral tonic-clonic seizure
Generalized non-motor (absence) seizure
Self-limited epilepsy with centrotemporal spikes
Condition: not provided
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA221580

rs_121918799

17 SubmittersRCV000059493 RCV000188915 RCV000415355 RCV000655982 RCV000723551 RCV000986890 RCV001129578 RCV002313744 RCV004537267 RCV006461391

NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys)

SNV
Germline

Chr2:166013820

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA285129

rs_121918738

2 SubmittersRCV000059494

NM_001165963.4(SCN1A):c.3693T>A (p.Ser1231Arg)

SNV
Germline

Chr2:166013756

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA285135

rs_121918746

2 SubmittersRCV000059496

NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro)

SNV
Germline

Chr2:166012210

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA285141

rs_121918739

3 SubmittersRCV003137601 RCV000059498

NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro)

SNV
Germline

Chr2:166012128

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285150

rs_121918740

3 SubmittersRCV000059502 RCV006461392

NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)

SNV
Germline

Chr2:166009796

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 1
not specified
Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA266111

rs_121918801

5 SubmittersRCV000059503 RCV000188936 RCV001786331 RCV005243111 RCV006607977

NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile)

SNV
Germline

Chr2:166002660

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 1
Condition: not provided
Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Early-infantile DEE
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Developmental and epileptic encephalopathy 6B

Criteria Provided
Conflicting Classifications

CA266114

rs_121918805

8 SubmittersRCV000059506 RCV001719807 RCV003989315 RCV004668767 RCV006555407 RCV006605216

NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu)

SNV
Germline

Chr2:165999763

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285162

rs_121918741

5 SubmittersRCV000059509 RCV000521069 RCV006461393

NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg)

SNV
Germline

Chr2:165999761

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285165

rs_121918789

4 SubmittersRCV000059510 RCV001091662 RCV001253411 RCV006461394

NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser)

SNV
Germline

Chr2:165996053

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
not specified
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA285177

rs_121918764

3 SubmittersRCV000059514 RCV000517134 RCV006461395

NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)

SNV
Germline

Chr2:165994275

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA219777

rs_121918807

9 SubmittersRCV000059515 RCV000986874 RCV004955268 RCV006609487

NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu)

SNV
Germline

Chr2:165994241

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285180

rs_121918742

3 SubmittersRCV000059516 RCV006555408

NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)

SNV
Germline

Chr2:165994164

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Condition: not provided
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA285183

rs_121918808

6 SubmittersRCV000059517 RCV002336219 RCV005251056 RCV006611194

NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys)

SNV
Germline

Chr2:165992333

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285189

rs_121918791

6 SubmittersRCV000059520 RCV003233101 RCV006555409

NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys)

SNV
Germline

Chr2:165992306

Pathogenic

Generalized epilepsy with febrile seizures plus, type 1
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA266117

rs_121918811

6 SubmittersRCV000059522 RCV001171717 RCV001711166 RCV003992175 RCV006555410

NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met)

SNV
Germline

Chr2:165992302

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285192

rs_121917922

4 SubmittersRCV000059523 RCV006606225

NM_001165963.4(SCN1A):c.4982T>C (p.Phe1661Ser)

SNV
Germline

Chr2:165992293

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Single Submitter

CA285195

rs_121918797

3 SubmittersRCV000059524 RCV005401321

NM_001165963.4(SCN1A):c.5054C>T (p.Ala1685Val)

SNV
Germline

Chr2:165992221

Pathogenic

Generalized epilepsy with febrile seizures plus, type 1
Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA266120

rs_121918744

4 SubmittersRCV000059528 RCV003992176 RCV006270346 RCV006461396

NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)

SNV
Germline

Chr2:165992200

Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285207

rs_121918778

3 SubmittersRCV000059529 RCV006461397

NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)

SNV
Germline

Chr2:165992194

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
not specified
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA285210

rs_121918777

4 SubmittersRCV000059530 RCV000501085 RCV004734623 RCV006461398

NM_001165963.4(SCN1A):c.523G>A (p.Ala175Thr)

SNV
Germline

Chr2:166054717

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285225

rs_121918767

3 SubmittersRCV000059536 RCV005054155 RCV006461399

NM_001165963.4(SCN1A):c.5342A>G (p.Tyr1781Cys)

SNV
Germline

Chr2:165991933

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA285228

rs_121918779

2 SubmittersRCV000059537 RCV006555411

NM_001165963.4(SCN1A):c.530G>A (p.Gly177Glu)

SNV
Germline

Chr2:166054710

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA285231

rs_121918770

3 SubmittersRCV000059538 RCV006461400

NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met)

SNV
Germline

Chr2:165991929

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA285234

rs_121918763

2 SubmittersRCV000059539

NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)

SNV
Germline

Chr2:165991892

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 1
not specified
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA266126

rs_121918813

4 SubmittersRCV000059540 RCV000489760 RCV000764284 RCV006461401

NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu)

SNV
Germline

Chr2:165991853

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Single Submitter

CA285237

rs_121918757

3 SubmittersRCV000059541 RCV000435635

NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)

SNV
Germline

Chr2:165991841

Likely pathogenic

Severe myoclonic epilepsy in infancy
Seizure
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA206668

rs_121918751

3 SubmittersRCV000059542 RCV000193290 RCV000478850

NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr)

SNV
Germline

Chr2:165991720

Pathogenic

Generalized epilepsy with febrile seizures plus, type 1
Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA266129

rs_121918783

7 SubmittersRCV000059544 RCV000180879 RCV005625262 RCV006461402

NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg)

SNV
Germline

Chr2:166054672

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285246

rs_121918773

4 SubmittersRCV000059548 RCV006461403

NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)

SNV
Germline

Chr2:165991549

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285249

rs_121918793

5 SubmittersRCV000059549 RCV000494436 RCV006461404

NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)

SNV
Germline

Chr2:165991405

Conflicting classifications of pathogenicity

West syndrome
Condition: not provided
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
not specified
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA213190

rs_121918802

11 SubmittersRCV000059551 RCV000416094 RCV000764283 RCV002247465 RCV004019071 RCV006555412

NM_001165963.4(SCN1A):c.755T>A (p.Ile252Asn)

SNV
Germline

Chr2:166051928

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy 6B
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA285255

rs_121918780

4 SubmittersRCV000059552 RCV001569540 RCV005252729 RCV006461405

NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg)

SNV
Germline

Chr2:166051906

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Seizure

Criteria Provided
Conflicting Classifications

CA285258

rs_121918735

5 SubmittersRCV000059553 RCV000678837

NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile)

SNV
Germline

Chr2:166051793

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Condition: not provided
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
not specified
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA285264

rs_121918771

6 SubmittersRCV000059555 RCV000997286 RCV001129824 RCV001129823 RCV006263654 RCV006461406

NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu)

SNV
Germline

Chr2:165996047

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Condition: not provided
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA357173

rs_139300715

6 SubmittersRCV000209885 RCV000494091 RCV004528267 RCV006607050

NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter)

SNV
Germline

Chr2:166043875

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA266829

rs_398123585

7 SubmittersRCV000174048 RCV000255527 RCV000515441 RCV006606228

NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)

SNV
Germline

Chr2:166039436

Pathogenic

Condition: not provided
Autosomal dominant epilepsy
Seizure
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA266833

rs_398123588

9 SubmittersRCV000255810 RCV000781835 RCV002274894 RCV002247477 RCV003992180 RCV004537326 RCV006555423

NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)

SNV
Germline

Chr2:166002537

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Inborn genetic diseases
SCN1A-related disorder
Early-infantile DEE
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

CA266841

rs_398123593

8 SubmittersRCV000079581 RCV001509554 RCV002316233 RCV005867865 RCV006607053 RCV006261950

NM_001165963.4(SCN1A):c.5141T>C (p.Met1714Thr)

SNV
Germline

Chr2:165992134

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA266846

rs_121917949

2 SubmittersRCV000079588 RCV001823112

NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)

SNV
Germline

Chr2:165991324

Conflicting classifications of pathogenicity

Condition: not provided
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA221611

rs_146733308

9 SubmittersRCV000723619 RCV000764282 RCV002313760 RCV004542757 RCV006461438

NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)

SNV
Germline

Chr2:166238128

Conflicting classifications of pathogenicity

not specified
Severe myoclonic epilepsy in infancy
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Primary erythromelalgia
Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases
Primary erythromelalgia
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 7
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Hereditary ataxia

Criteria Provided
Conflicting Classifications

CA201784

rs_141268327

20 SubmittersRCV000176065 RCV000328939 RCV000335798 RCV000383539 RCV000422016 RCV000714848 RCV000714847 RCV001080021 RCV002345422 RCV003224155 RCV005252107 RCV005625298

NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys)

SNV
Germline

Chr2:166036493

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA234856

rs_727504138

4 SubmittersRCV000153892 RCV004760399 RCV006555500

NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)

SNV
Germline

Chr2:166012255

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Inborn genetic diseases
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Seizure
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA273365

rs_727504136

10 SubmittersRCV000153888 RCV000188925 RCV002316972 RCV002492580 RCV005624331 RCV006461645

NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)

SNV
Germline

Chr2:166043973

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Inborn genetic diseases
not specified
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA234868

rs_544692790

6 SubmittersRCV000515440 RCV000710209 RCV002408682 RCV004998305 RCV006606276

NM_001165963.4(SCN1A):c.694+5G>C

SNV
Germline

Chr2:166052847

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA234876

rs_727504142

3 SubmittersRCV000153902 RCV000180927 RCV006461648

NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr)

SNV
Germline

Chr2:165991495

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303228

rs_794726737

1 SubmittersRCV000180845

NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)

SNV
Germline

Chr2:165991601

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303237

rs_794726739

8 SubmittersRCV000180848 RCV000189004 RCV000995637 RCV002505227 RCV002281566 RCV006461703

NM_001165963.4(SCN1A):c.5662C>T (p.Gln1888Ter)

SNV
Germline

Chr2:165991613

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303571

rs_794726845

2 SubmittersRCV000180975 RCV006555532

NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)

SNV
Germline

Chr2:165991619

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303286

rs_779614747

5 SubmittersRCV000180864 RCV000189014 RCV006461706

NM_001165963.4(SCN1A):c.5536A>T (p.Lys1846Ter)

SNV
Germline

Chr2:165991739

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303126

rs_372098964

1 SubmittersRCV000180812

NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val)

SNV
Germline

Chr2:165991760

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303429

rs_794726801

2 SubmittersRCV000180919 RCV003480074

NM_001165963.4(SCN1A):c.5470G>T (p.Glu1824Ter)

SNV
Germline

Chr2:165991805

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303342

rs_794726769

1 SubmittersRCV000180885

NM_001165963.4(SCN1A):c.5461C>T (p.Gln1821Ter)

SNV
Germline

Chr2:165991814

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303372

rs_794726781

1 SubmittersRCV000180897

NM_001165963.4(SCN1A):c.5404G>T (p.Glu1802Ter)

SNV
Germline

Chr2:165991871

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303368

rs_794726780

1 SubmittersRCV000180896

NM_001165963.4(SCN1A):c.5264A>G (p.Asp1755Gly)

SNV
Germline

Chr2:165992011

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303182

rs_794726722

1 SubmittersRCV000180829

NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr)

SNV
Germline

Chr2:165992053

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303327

rs_794726763

3 SubmittersRCV000180878 RCV000188996 RCV006461713

NM_001165963.4(SCN1A):c.5108A>T (p.Asp1703Val)

SNV
Germline

Chr2:165992167

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303433

rs_794726802

1 SubmittersRCV000180920

NM_001165963.4(SCN1A):c.5106T>A (p.Asp1702Glu)

SNV
Germline

Chr2:165992169

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303444

rs_794726804

1 SubmittersRCV000180924

NM_001165963.4(SCN1A):c.5082T>G (p.Tyr1694Ter)

SNV
Germline

Chr2:165992193

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303275

rs_794726748

1 SubmittersRCV000180859

NM_001165963.4(SCN1A):c.5063G>T (p.Gly1688Val)

SNV
Germline

Chr2:165992212

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303590

rs_794726851

1 SubmittersRCV000180982

NM_001165963.4(SCN1A):c.5014A>C (p.Asn1672His)

SNV
Germline

Chr2:165992261

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303241

rs_794726740

1 SubmittersRCV000180849

NM_001165963.4(SCN1A):c.5003C>G (p.Pro1668Arg)

SNV
Germline

Chr2:165992272

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303095

rs_794726698

1 SubmittersRCV000180799

NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe)

SNV
Germline

Chr2:165992278

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303314

rs_794726760

3 SubmittersRCV000180874 RCV006461711

NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val)

SNV
Germline

Chr2:165992290

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303545

rs_794726839

3 SubmittersRCV000180967 RCV002316981 RCV004700524

NM_001165963.4(SCN1A):c.4934G>C (p.Arg1645Pro)

SNV
Germline

Chr2:165992341

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303527

rs_121917976

1 SubmittersRCV000180961

NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter)

SNV
Germline

Chr2:165992342

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303310

rs_794726759

7 SubmittersRCV000180873 RCV001090360 RCV001580464 RCV001813764 RCV006461710

NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)

SNV
Germline

Chr2:165992369

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303158

rs_199727342

7 SubmittersRCV000180823 RCV000188982 RCV003128152 RCV006461701

NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter)

SNV
Germline

Chr2:165994187

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303425

rs_794726800

2 SubmittersRCV000180918 RCV006461722

NM_001165963.4(SCN1A):c.4766T>G (p.Val1589Gly)

SNV
Germline

Chr2:165994232

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303511

rs_764037830

1 SubmittersRCV000180954

NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)

SNV
Germline

Chr2:165996021

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Migraine, familial hemiplegic, 3
Early-infantile DEE
SCN1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA303282

rs_794726752

8 SubmittersRCV000180863 RCV000188962 RCV002221506 RCV006461705 RCV005867984

NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter)

SNV
Germline

Chr2:165996045

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303535

rs_794726835

2 SubmittersRCV000180963 RCV000352668

NM_001165963.4(SCN1A):c.4547C>G (p.Ser1516Trp)

SNV
Germline

Chr2:165996047

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303318

rs_139300715

1 SubmittersRCV000180875

NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe)

SNV
Germline

Chr2:165998102

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303462

rs_794726809

3 SubmittersRCV000180931 RCV006461725

NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr)

SNV
Germline

Chr2:165998163

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303087

rs_794726696

2 SubmittersRCV000180797 RCV006461695

NM_001165963.4(SCN1A):c.4338+4A>C

SNV
Germline

Chr2:165999719

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303222

rs_794726734

1 SubmittersRCV000180842

NM_001165963.4(SCN1A):c.4302G>A (p.Trp1434Ter)

SNV
Germline

Chr2:165999759

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303099

rs_794726699

2 SubmittersRCV000180800 RCV006555523

NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter)

SNV
Germline

Chr2:166002533

Pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303381

rs_794726784

3 SubmittersRCV000180900 RCV001527712 RCV006555527

NM_001165963.4(SCN1A):c.4188C>A (p.Cys1396Ter)

SNV
Germline

Chr2:166002568

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303259

rs_794726745

1 SubmittersRCV000180855

NM_001165963.4(SCN1A):c.4168G>C (p.Val1390Leu)

SNV
Germline

Chr2:166002588

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303554

rs_121917986

1 SubmittersRCV000180970

NM_001165963.4(SCN1A):c.4088T>A (p.Ile1363Asn)

SNV
Germline

Chr2:166002668

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303118

rs_794726707

1 SubmittersRCV000180810

NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg)

SNV
Germline

Chr2:166002670

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303364

rs_794726779

2 SubmittersRCV000180895 RCV006461718

NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro)

SNV
Germline

Chr2:166002701

Pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303491

rs_794726821

3 SubmittersRCV000180946 RCV002272155 RCV006461726

NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile)

SNV
Germline

Chr2:166002712

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303495

rs_794726822

1 SubmittersRCV000180947

NM_001165963.4(SCN1A):c.4016C>T (p.Ala1339Val)

SNV
Germline

Chr2:166002740

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303389

rs_794726789

1 SubmittersRCV000180905

NM_001165963.4(SCN1A):c.3899C>G (p.Thr1300Arg)

SNV
Germline

Chr2:166009822

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303438

rs_146878122

2 SubmittersRCV000180922 RCV006555529

NM_001165963.4(SCN1A):c.3880-2A>G

SNV
Germline

Chr2:166009843

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303483

rs_794726816

2 SubmittersRCV000180941 RCV000707470

NM_001165963.4(SCN1A):c.3879+1G>T

SNV
Germline

Chr2:166012108

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303103

rs_794726700

1 SubmittersRCV000180801

NM_001165963.4(SCN1A):c.3858G>A (p.Trp1286Ter)

SNV
Germline

Chr2:166012130

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303598

rs_794726853

1 SubmittersRCV000180985

NM_001165963.4(SCN1A):c.3828T>A (p.Tyr1276Ter)

SNV
Germline

Chr2:166012160

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303210

rs_794726731

1 SubmittersRCV000180839

NM_001165963.4(SCN1A):c.3821A>C (p.Tyr1274Ser)

SNV
Germline

Chr2:166012167

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303594

rs_794726852

1 SubmittersRCV000180984

NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val)

SNV
Germline

Chr2:166012170

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303550

rs_794726841

3 SubmittersRCV000180969 RCV000442784

NM_001165963.4(SCN1A):c.3763G>C (p.Ala1255Pro)

SNV
Germline

Chr2:166012225

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303188

rs_777939538

1 SubmittersRCV000180832

NM_001165963.4(SCN1A):c.3757G>T (p.Glu1253Ter)

SNV
Germline

Chr2:166012231

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303484

rs_794726817

1 SubmittersRCV000180942

NM_001165963.4(SCN1A):c.3730C>T (p.Gln1244Ter)

SNV
Germline

Chr2:166012258

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA303201

rs_794726727

2 SubmittersRCV000180836

NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)

SNV
Germline

Chr2:166012282

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Intellectual disability

Criteria Provided
Multiple Submitters
No Conflicts

CA303346

rs_794726770

2 SubmittersRCV000180886 RCV001255366

NM_001165963.4(SCN1A):c.3705+2T>A

SNV
Germline

Chr2:166013742

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303223

rs_794726735

1 SubmittersRCV000180843

NM_001165963.4(SCN1A):c.3705+1G>A

SNV
Germline

Chr2:166013743

Pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303258

rs_794726744

3 SubmittersRCV000180854 RCV001727612 RCV006461704

NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln)

SNV
Germline

Chr2:166013788

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303606

rs_794726854

2 SubmittersRCV000180987 RCV006461732

NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)

SNV
Germline

Chr2:166013812

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Seizure
Migraine, familial hemiplegic, 3
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303131

rs_794726710

11 SubmittersRCV000180814 RCV000189082 RCV000585684 RCV002281564 RCV002453572 RCV006461698

NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter)

SNV
Germline

Chr2:166013834

Pathogenic

Severe myoclonic epilepsy in infancy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA303170

rs_794726720

2 SubmittersRCV000180826 RCV000624326

NM_001165963.4(SCN1A):c.3550+1G>A

SNV
Germline

Chr2:166015606

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303539

rs_794726836

2 SubmittersRCV000180964 RCV006461730

NM_001165963.4(SCN1A):c.3455C>A (p.Ser1152Ter)

SNV
Germline

Chr2:166015702

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303205

rs_794726728

1 SubmittersRCV000180837

NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter)

SNV
Germline

Chr2:166015718

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303218

rs_794726733

2 SubmittersRCV000180841 RCV006555525

NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter)

SNV
Germline

Chr2:166036371

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303458

rs_542420576

3 SubmittersRCV000180930 RCV003441770 RCV006607072

NM_001165963.4(SCN1A):c.2985T>G (p.Phe995Leu)

SNV
Germline

Chr2:166036492

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA303267

rs_794726746

2 SubmittersRCV000188906 RCV000180857

NM_001165963.4(SCN1A):c.2946+1G>T

SNV
Germline

Chr2:166037775

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303354

rs_794726772

3 SubmittersRCV000180888 RCV000188902 RCV006461715

NM_001165963.4(SCN1A):c.2936G>A (p.Gly979Glu)

SNV
Germline

Chr2:166037786

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303559

rs_794726842

2 SubmittersRCV000180972 RCV006461731

NM_001165963.4(SCN1A):c.2929G>A (p.Val977Met)

SNV
Germline

Chr2:166037793

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303515

rs_794726828

1 SubmittersRCV000180955

NM_001165963.4(SCN1A):c.2903G>T (p.Cys968Phe)

SNV
Germline

Chr2:166037819

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303499

rs_794726823

1 SubmittersRCV000180948

NM_001165963.4(SCN1A):c.2879T>G (p.Met960Arg)

SNV
Germline

Chr2:166037843

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303122

rs_794726708

1 SubmittersRCV000180811

NM_001165963.4(SCN1A):c.2876G>A (p.Cys959Tyr)

SNV
Germline

Chr2:166037846

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303149

rs_794726716

3 SubmittersRCV000180820 RCV000256008

NM_001165963.4(SCN1A):c.2837G>C (p.Arg946Pro)

SNV
Germline

Chr2:166037885

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA303197

rs_121917971

3 SubmittersRCV000180835

NM_001165963.4(SCN1A):c.2792G>C (p.Arg931Pro)

SNV
Germline

Chr2:166037930

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303413

rs_794726718

3 SubmittersRCV000180915 RCV005865265 RCV006461721

NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His)

SNV
Germline

Chr2:166037930

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Early-infantile DEE

Reviewed By Expert Panel

CA303154

rs_794726718

7 SubmittersRCV000180822 RCV000412755 RCV000763459 RCV002281565 RCV006461700

NM_001165963.4(SCN1A):c.2780G>T (p.Cys927Phe)

SNV
Germline

Chr2:166037942

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA303467

rs_794726811

3 SubmittersRCV000180933 RCV004535159 RCV006555530

NM_001165963.4(SCN1A):c.2728C>A (p.Gln910Lys)

SNV
Germline

Chr2:166037994

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303174

rs_794726721

1 SubmittersRCV000180827

NM_001165963.4(SCN1A):c.2690T>C (p.Leu897Ser)

SNV
Germline

Chr2:166038032

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303322

rs_794726761

2 SubmittersRCV000180876 RCV006461712

NM_001165963.4(SCN1A):c.2678T>A (p.Leu893Ter)

SNV
Germline

Chr2:166038044

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303479

rs_794726815

1 SubmittersRCV000180940

NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr)

SNV
Germline

Chr2:166038107

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303383

rs_794726786

2 SubmittersRCV000180902 RCV001531324

NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)

SNV
Germline

Chr2:166038129

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Seizure
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303091

rs_794726697

9 SubmittersRCV000180798 RCV000423112 RCV001786337 RCV004725018 RCV006555522

NM_001165963.4(SCN1A):c.2589+3A>T

SNV
Germline

Chr2:166039420

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Early-infantile DEE
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

CA303357

rs_794726775

15 SubmittersRCV000188876 RCV000180891 RCV003224181 RCV006555526 RCV005624334

NM_001165963.4(SCN1A):c.2588T>G (p.Leu863Trp)

SNV
Germline

Chr2:166039424

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303139

rs_794726712

1 SubmittersRCV000180816

NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter)

SNV
Germline

Chr2:166039428

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA275003

rs_397514459

8 SubmittersRCV000174713 RCV000174714 RCV006461697

NM_001165963.4(SCN1A):c.2537A>G (p.Glu846Gly)

SNV
Germline

Chr2:166039475

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303403

rs_794726794

1 SubmittersRCV000180911

NM_001165963.4(SCN1A):c.2479T>G (p.Tyr827Asp)

SNV
Germline

Chr2:166039533

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303448

rs_794726805

1 SubmittersRCV000180925

NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val)

SNV
Germline

Chr2:166041293

Pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303300

rs_767045134

4 SubmittersRCV000180869 RCV005243144 RCV006461709

NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu)

SNV
Germline

Chr2:166041343

Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Reviewed By Expert Panel

CA303333

rs_794726766

5 SubmittersRCV000180882 RCV003482238 RCV006461714

NM_001165963.4(SCN1A):c.2261G>T (p.Trp754Leu)

SNV
Germline

Chr2:166041385

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303254

rs_794726743

1 SubmittersRCV000180853

NM_001165963.4(SCN1A):c.2213G>T (p.Trp738Leu)

SNV
Germline

Chr2:166041433

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303250

rs_794726742

1 SubmittersRCV000180852

NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter)

SNV
Germline

Chr2:166041433

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303442

rs_794726742

3 SubmittersRCV000180923 RCV000578911 RCV006461724

NM_001165963.4(SCN1A):c.2176+3T>A

SNV
Germline

Chr2:166042289

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303407

rs_794726795

1 SubmittersRCV000180912

NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)

SNV
Germline

Chr2:166042334

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy, 1
Autosomal dominant epilepsy
Inborn genetic diseases
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA274966

rs_794726730

16 SubmittersRCV000174291 RCV000188886 RCV001004670 RCV001527645 RCV001824659 RCV002515207 RCV004535158 RCV006606278

NM_001165963.4(SCN1A):c.2071A>T (p.Lys691Ter)

SNV
Germline

Chr2:166042397

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303271

rs_794726747

1 SubmittersRCV000180858

NM_001165963.4(SCN1A):c.1970C>T (p.Pro657Leu)

SNV
Germline

Chr2:166043742

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303541

rs_794726838

1 SubmittersRCV000180966

NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter)

SNV
Germline

Chr2:166043878

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303360

rs_794726778

4 SubmittersRCV000180894 RCV006461717

NM_001165963.4(SCN1A):c.1804G>T (p.Glu602Ter)

SNV
Germline

Chr2:166043908

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303531

rs_794726834

1 SubmittersRCV000180962

NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)

SNV
Germline

Chr2:166043974

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
SCN1A-related disorder
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303224

rs_794726736

8 SubmittersRCV000180844 RCV000254957 RCV004528926 RCV006362092 RCV006461702

NM_001165963.4(SCN1A):c.1662+3A>G

SNV
Germline

Chr2:166045040

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303355

rs_794726773

3 SubmittersRCV000180889 RCV005861074 RCV006461716

NM_001165963.4(SCN1A):c.1662+1G>T

SNV
Germline

Chr2:166045042

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303279

rs_794726749

1 SubmittersRCV000180860

NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)

SNV
Germline

Chr2:166045081

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303104

rs_138877187

7 SubmittersRCV000180802 RCV000188870 RCV001004730 RCV002313015 RCV006607071

NM_001165963.4(SCN1A):c.1516C>T (p.Gln506Ter)

SNV
Germline

Chr2:166045189

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303393

rs_794726790

3 SubmittersRCV000180906 RCV004696866 RCV006461720

NM_001165963.4(SCN1A):c.1345G>T (p.Glu449Ter)

SNV
Germline

Chr2:166046802

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303453

rs_794726807

1 SubmittersRCV000180928

NM_001165963.4(SCN1A):c.1265T>C (p.Val422Ala)

SNV
Germline

Chr2:166046882

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303306

rs_121917989

1 SubmittersRCV000180872

NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val)

SNV
Germline

Chr2:166046888

Likely pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus
Early-infantile DEE

Reviewed By Expert Panel

CA303506

rs_794726826

3 SubmittersRCV000180952 RCV005889656 RCV006461728

NM_001165963.4(SCN1A):c.1199T>A (p.Met400Lys)

SNV
Germline

Chr2:166046948

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303192

rs_794726725

1 SubmittersRCV000180833

NM_001165963.4(SCN1A):c.1170+1G>T

SNV
Germline

Chr2:166047626

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303332

rs_794726765

2 SubmittersRCV000180881 RCV000433816

NM_001165963.4(SCN1A):c.1146C>A (p.Asp382Glu)

SNV
Germline

Chr2:166047651

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303290

rs_794726753

2 SubmittersRCV000180865 RCV006461707

NM_001165963.4(SCN1A):c.1136T>A (p.Met379Lys)

SNV
Germline

Chr2:166047661

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303214

rs_794726732

1 SubmittersRCV000180840

NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)

SNV
Germline

Chr2:166047668

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Seizure
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303421

rs_794726799

10 SubmittersRCV000180917 RCV000423099 RCV002274946 RCV005867986 RCV006606279

NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser)

SNV
Germline

Chr2:166047721

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Condition: not provided
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA303143

rs_794726713

6 SubmittersRCV000180817 RCV000329798 RCV004965289 RCV006461699

NM_001165963.4(SCN1A):c.1072C>T (p.Pro358Ser)

SNV
Germline

Chr2:166047725

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy, 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA303166

rs_121917923

2 SubmittersRCV000180825 RCV003326125

NM_001165963.4(SCN1A):c.1048A>G (p.Met350Val)

SNV
Germline

Chr2:166047749

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303338

rs_794726768

1 SubmittersRCV000180884

NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys)

SNV
Germline

Chr2:166047751

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303567

rs_794726844

2 SubmittersRCV000180974 RCV006555531

NM_001165963.4(SCN1A):c.1033T>C (p.Cys345Arg)

SNV
Germline

Chr2:166047764

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303376

rs_794726782

2 SubmittersRCV000180898 RCV006461719

NM_001165963.4(SCN1A):c.1025C>T (p.Ala342Val)

SNV
Germline

Chr2:166048889

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303409

rs_794726797

1 SubmittersRCV000180914

NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser)

SNV
Germline

Chr2:166048890

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303563

rs_794726843

2 SubmittersRCV000180973 RCV003228910

NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr)

SNV
Germline

Chr2:166048907

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303417

rs_794726798

3 SubmittersRCV000180916 RCV006555528

NM_001165963.4(SCN1A):c.965-1G>A

SNV
Germline

Chr2:166048950

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303503

rs_794726824

5 SubmittersRCV000180949 RCV000188853 RCV002381539 RCV006606280

NM_001165963.4(SCN1A):c.964+14T>G

SNV
Germline

Chr2:166051705

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303540

rs_794726837

1 SubmittersRCV000180965

NM_001165963.4(SCN1A):c.826A>C (p.Lys276Gln)

SNV
Germline

Chr2:166051857

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303576

rs_794726847

1 SubmittersRCV000180977

NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg)

SNV
Germline

Chr2:166051914

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA303350

rs_794726771

2 SubmittersRCV000188845 RCV000180887

NM_001165963.4(SCN1A):c.747T>G (p.Asp249Glu)

SNV
Germline

Chr2:166051936

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303474

rs_773407463

2 SubmittersRCV000180938

NM_001165963.4(SCN1A):c.728C>A (p.Ser243Tyr)

SNV
Germline

Chr2:166051955

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303295

rs_794726755

1 SubmittersRCV000180867

NM_001165963.4(SCN1A):c.675G>C (p.Lys225Asn)

SNV
Germline

Chr2:166052871

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303162

rs_794726719

2 SubmittersRCV000180824 RCV000428290

NM_001165963.4(SCN1A):c.602+3A>C

SNV
Germline

Chr2:166054635

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303526

rs_794726833

1 SubmittersRCV000180960

NM_001165963.4(SCN1A):c.602+1G>T

SNV
Germline

Chr2:166054637

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303510

rs_794726827

2 SubmittersRCV000180953 RCV006461729

NM_001165963.4(SCN1A):c.530G>T (p.Gly177Val)

SNV
Germline

Chr2:166054710

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303263

rs_121918770

1 SubmittersRCV000180856

NM_001165963.4(SCN1A):c.473+1G>C

SNV
Germline

Chr2:166056410

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303549

rs_794726840

1 SubmittersRCV000180968

NM_001165963.4(SCN1A):c.433A>G (p.Met145Val)

SNV
Germline

Chr2:166056451

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303585

rs_794726849

1 SubmittersRCV000180980

NM_001165963.4(SCN1A):c.384-1C>G

SNV
Germline

Chr2:166056501

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303331

rs_794726764

1 SubmittersRCV000180880

NM_001165963.4(SCN1A):c.383+1A>G

SNV
Germline

Chr2:166058569

Pathogenic

Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303437

rs_794726803

3 SubmittersRCV000180921 RCV002316980 RCV006461723

NM_001165963.4(SCN1A):c.380A>T (p.His127Leu)

SNV
Germline

Chr2:166058573

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303521

rs_794726831

1 SubmittersRCV000180958

NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr)

SNV
Germline

Chr2:166058616

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303135

rs_794726711

3 SubmittersRCV000180815 RCV000188831 RCV000636365

NM_001165963.4(SCN1A):c.323T>C (p.Leu108Pro)

SNV
Germline

Chr2:166058630

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303399

rs_794726793

1 SubmittersRCV000180910

NM_001165963.4(SCN1A):c.308G>T (p.Ser103Ile)

SNV
Germline

Chr2:166058645

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303246

rs_760361423

1 SubmittersRCV000180851

NM_001165963.4(SCN1A):c.264+5G>C

SNV
Germline

Chr2:166073353

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA303326

rs_794726762

2 SubmittersRCV000180877 RCV006607980

NM_001165963.4(SCN1A):c.121A>T (p.Lys41Ter)

SNV
Germline

Chr2:166073501

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303232

rs_764444350

1 SubmittersRCV000180846

NM_001165963.4(SCN1A):c.70G>A (p.Ala24Thr)

SNV
Germline

Chr2:166073552

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303581

rs_794726848

1 SubmittersRCV000180979

NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter)

SNV
Germline

Chr2:166041432

Pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA274764

rs_786205214

3 SubmittersRCV000170444 RCV000438487 RCV002288778

NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)

SNV
Germline

Chr2:166015676

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Condition: not provided
SCN1A-related disorder
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA240854

rs_201079458

9 SubmittersRCV000515245 RCV000724750 RCV001132318 RCV002336423 RCV006608672

NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)

SNV
Germline

Chr2:166058574

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Condition: not provided
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA302801

rs_148442069

8 SubmittersRCV000764287 RCV000724565 RCV004734783 RCV006606287

NM_001165963.4(SCN1A):c.602+1G>A

SNV
Germline

Chr2:166054637

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Global developmental delay
Seizure
Autism
Focal impaired awareness seizure
Migraine, familial hemiplegic, 3
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy, 76
See cases
Seizure
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA302978

rs_794726827

17 SubmittersRCV000178154 RCV000188832 RCV000768306 RCV001004746 RCV001003957 RCV001290257 RCV002281567 RCV003224195 RCV003338449 RCV004797789 RCV005624338 RCV006461783

NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu)

SNV
Unknown

Chr2:165998070

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA275462

rs_794729200

1 SubmittersRCV000986878

NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly)

SNV
Germline

Chr2:165991363

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA317682

rs_771936735

5 SubmittersRCV000189026 RCV001334844 RCV002514051 RCV006611942

NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr)

SNV
Germline

Chr2:165991594

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA317649

rs_562208324

3 SubmittersRCV000189015 RCV000986869 RCV006461922

NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)

SNV
Germline

Chr2:165991774

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA317613

rs_780809852

8 SubmittersRCV000189005 RCV000714535 RCV000714534 RCV003128153 RCV004594027 RCV006555615

NM_001165963.4(SCN1A):c.4931G>A (p.Gly1644Asp)

SNV
Germline

Chr2:165992344

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA317557

rs_796053030

3 SubmittersRCV000188985 RCV006547778

NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro)

SNV
Germline

Chr2:165992359

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Reviewed By Expert Panel

CA317553

rs_796053029

3 SubmittersRCV000188984 RCV004577517 RCV006461914

NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)

SNV
Germline

Chr2:165996038

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA317501

rs_372425457

6 SubmittersRCV000188964 RCV000986876 RCV002317151 RCV006461910

NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)

SNV
Germline

Chr2:165996047

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA317493

rs_139300715

13 SubmittersRCV000188961 RCV000416525 RCV000763458 RCV003448284 RCV004734834 RCV006461908

NM_001165963.4(SCN1A):c.4476+1A>G

SNV
Germline

Chr2:165998037

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA317467

rs_796053014

3 SubmittersRCV000188953 RCV000201073 RCV006461907

NM_001165963.4(SCN1A):c.4313T>C (p.Met1438Thr)

SNV
Germline

Chr2:165999748

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA317450

rs_796053010

3 SubmittersRCV004804286 RCV005868431 RCV006468317

NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)

SNV
Germline

Chr2:166009736

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy, 6A
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA317421

rs_796053004

8 SubmittersRCV000188938 RCV000201135 RCV000622874 RCV001194614 RCV002470805 RCV006461903

NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)

SNV
Germline

Chr2:166009822

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Severe myoclonic epilepsy in infancy
Intellectual disability
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA317408

rs_146878122

10 SubmittersRCV000188933 RCV000724898 RCV000986884 RCV001252612 RCV002314753 RCV006461901

NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)

SNV
Germline

Chr2:166012138

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA317404

rs_796053001

3 SubmittersRCV000188932 RCV001375621 RCV002247609

NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=)

SNV
Germline

Chr2:166036048

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA317359

rs_796052994

4 SubmittersRCV000188913 RCV005243153 RCV006461897

NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)

SNV
Germline

Chr2:166036483

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA317343

rs_796052991

4 SubmittersRCV000188907 RCV001509553 RCV003448283 RCV006461895

NM_001165963.4(SCN1A):c.2782C>T (p.Gln928Ter)

SNV
Germline

Chr2:166037940

Pathogenic/Likely pathogenic

Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA317311

rs_796052985

3 SubmittersRCV000188896 RCV005025307 RCV006555605

NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His)

SNV
Germline

Chr2:166045101

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA317245

rs_184524479

4 SubmittersRCV000188874 RCV000585879 RCV002399702 RCV006461886

NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys)

SNV
Germline

Chr2:166046870

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA317209

rs_796052973

5 SubmittersRCV000188864 RCV001528187 RCV006461883

NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met)

SNV
Germline

Chr2:166046954

Conflicting classifications of pathogenicity

Condition: not provided
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA317213

rs_774937055

5 SubmittersRCV000188865 RCV001134813 RCV001134812 RCV001775093 RCV006461884

NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)

SNV
Germline

Chr2:166048928

Pathogenic/Likely pathogenic

Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA317185

rs_779184118

4 SubmittersRCV000188856 RCV000677680 RCV000986909

NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys)

SNV
Germline

Chr2:166048929

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Intellectual disability
Developmental and epileptic encephalopathy 6B
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA317771

rs_781746113

4 SubmittersRCV000189077 RCV001253376 RCV001255357 RCV005410891 RCV006461933

NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro)

SNV
Germline

Chr2:166052884

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA317148

rs_796052961

2 SubmittersRCV000188840 RCV003448282

NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro)

SNV
Germline

Chr2:166054735

Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA317134

rs_796052957

2 SubmittersRCV000188835 RCV000500830

NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)

SNV
Germline

Chr2:166056412

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA317752

rs_796053090

4 SubmittersRCV000189072 RCV001252613 RCV006607090

NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys)

SNV
Germline

Chr2:166073540

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 2
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA317371

rs_754032480

5 SubmittersRCV000188919 RCV001241778 RCV002485282 RCV002225093 RCV004734833

NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter)

SNV
Germline

Chr2:165991839

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA325468

rs_863225037

3 SubmittersRCV000201173 RCV006555664

NM_001165963.4(SCN1A):c.4477-2A>G

SNV
Germline

Chr2:165996119

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA325463

rs_863225036

2 SubmittersRCV000201155 RCV006462084

NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter)

SNV
Germline

Chr2:166002490

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA325451

rs_863225035

1 SubmittersRCV000201009

NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter)

SNV
Germline

Chr2:166013792

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA325459

rs_863225033

2 SubmittersRCV000201129 RCV006462083

NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter)

SNV
Germline

Chr2:166036171

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA325469

rs_863225032

1 SubmittersRCV000201200

NM_001165963.4(SCN1A):c.1028+1G>T

SNV
Germline

Chr2:166048885

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA325455

rs_863225030

2 SubmittersRCV000201025 RCV006462082

NM_001165963.4(SCN1A):c.264+5G>A

SNV
Germline

Chr2:166073353

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Autosomal dominant epilepsy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA325458

rs_794726762

6 SubmittersRCV000201121 RCV001197105 RCV002469061 RCV006607116

NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter)

SNV
Germline

Chr2:166073373

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA325464

rs_863225031

3 SubmittersRCV000201161 RCV006555663

NM_001165963.4(SCN1A):c.4002+2451G>C

SNV
Germline

Chr2:166007268

Pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA357199

rs_869312684

3 SubmittersRCV000209951 RCV005621917 RCV006555682

NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)

SNV
Germline

Chr2:166044010

Pathogenic

Condition: not provided
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA10588322

rs_886039430

8 SubmittersRCV000254726 RCV000768077 RCV001194613 RCV001198880 RCV003224247 RCV003362739 RCV006462272

NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val)

SNV
Germline

Chr2:166052885

Conflicting classifications of pathogenicity

Condition: not provided
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
not specified
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA10588324

rs_886039456

4 SubmittersRCV000255269 RCV000763462 RCV005895438 RCV006462275

NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu)

SNV
Unknown

Chr2:166048889

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA10602709

rs_794726797

1 SubmittersRCV000258942

NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser)

SNV
Germline

Chr2:166058599

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602815

rs_121917959

2 SubmittersRCV000364532 RCV000986918

NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met)

SNV
Germline

Chr2:166046883

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
SCN1A-related disorder
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA10604358

rs_886042528

5 SubmittersRCV000314247 RCV000725185 RCV004543016 RCV006555761

NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met)

SNV
Germline

Chr2:166046886

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA16042397

rs_781507889

3 SubmittersRCV000413776 RCV001328664

NM_001165963.4(SCN1A):c.2362G>A (p.Glu788Lys)

SNV
Germline

Chr2:166041284

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA16042443

rs_1057517959

3 SubmittersRCV000413156 RCV003992286 RCV006555890

NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala)

SNV
Germline

Chr2:165991924

Likely pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA16043651

rs_1057518671

1 SubmittersRCV000414903

NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn)

SNV
Germline

Chr2:166044003

Likely pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Inborn genetic diseases
Early-infantile DEE
Generalized epilepsy with febrile seizures plus

Reviewed By Expert Panel

CA16043652

rs_1057518703

5 SubmittersRCV000415450 RCV001584109 RCV002402109 RCV006462602 RCV005900683

NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile)

SNV
Germline

Chr2:165994184

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA16044312

rs_1057519533

1 SubmittersRCV000417022

NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro)

SNV
Germline

Chr2:166052864

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA16044315

rs_1057519530

1 SubmittersRCV000416974

NM_001165963.4(SCN1A):c.603-2A>G

SNV
Germline

Chr2:166052945

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA16044316

rs_1057519531

2 SubmittersRCV000417006 RCV006462608

NM_001165963.4(SCN1A):c.4476+6T>C

SNV
Germline

Chr2:165998032

Conflicting classifications of pathogenicity

not specified
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA16603835

rs_1057523807

2 SubmittersRCV000435673 RCV005869427

NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)

SNV
Germline

Chr2:166288474

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Condition: not provided
Inborn genetic diseases
Primary erythromelalgia
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Severe myoclonic epilepsy in infancy
Primary erythromelalgia
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Generalized epilepsy with febrile seizures plus, type 7

Criteria Provided
Conflicting Classifications

CA1944559

rs_200415928

5 SubmittersRCV000463481 RCV001755714 RCV002446880 RCV003224294 RCV005252109

NM_001165963.4(SCN1A):c.3705+5G>A

SNV
Germline

Chr2:166013739

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA16610273

rs_1060502189

2 SubmittersRCV000986887 RCV006462881

NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro)

SNV
Germline

Chr2:165992303

Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA16617285

rs_1064794766

2 SubmittersRCV000482880 RCV003221302

NM_001165963.4(SCN1A):c.2043+1G>A

SNV
Germline

Chr2:166043668

Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Autosomal dominant epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA1943216

rs_751533302

3 SubmittersRCV000486990 RCV002244954 RCV003987560

NM_001165963.4(SCN1A):c.1498C>T (p.Arg500Trp)

SNV
Germline

Chr2:166045207

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B

Criteria Provided
Conflicting Classifications

CA1943296

rs_141188608

5 SubmittersRCV000486171 RCV003989533 RCV004564161 RCV006556042 RCV005398685

NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)

SNV
Germline

Chr2:165998038

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA429892897

rs_1085307730

4 SubmittersRCV000489904 RCV001814163 RCV006463052

NM_001165963.4(SCN1A):c.1027G>A (p.Gly343Ser)

SNV
Germline

Chr2:166048887

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA349071541

rs_1553548063

3 SubmittersRCV000497813 RCV005628145 RCV006556108

NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)

SNV
Germline

Chr2:165994211

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE
Inborn genetic diseases
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA1942737

rs_575368466

8 SubmittersRCV000518137 RCV002289705 RCV006463221 RCV005480381 RCV006550274

NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter)

SNV
Germline

Chr2:166015661

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349056701

rs_368609628

3 SubmittersRCV000517686 RCV000986891 RCV006463220

NM_001165963.4(SCN1A):c.5164A>G (p.Thr1722Ala)

SNV
Germline

Chr2:165992111

Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349068831

rs_1553520321

2 SubmittersRCV000522920 RCV005869579

NM_001165963.4(SCN1A):c.2817C>A (p.His939Gln)

SNV
Germline

Chr2:166037905

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349061306

rs_121918795

2 SubmittersRCV000519717 RCV003992313

NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr)

SNV
Germline

Chr2:166038057

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349061639

rs_1266877537

3 SubmittersRCV001253601 RCV001696832 RCV006606434

NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=)

SNV
Germline

Chr2:165992058

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Condition: not provided
Inborn genetic diseases
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
not specified
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA1942686

rs_149315236

5 SubmittersRCV000768075 RCV000828050 RCV002350223 RCV003224323 RCV004701623 RCV006608735

NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp)

SNV
Germline

Chr2:165991924

Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA349068040

rs_1057518671

2 SubmittersRCV000578114 RCV006556286

NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn)

SNV
Germline

Chr2:166002716

Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349050737

rs_1553525325

2 SubmittersRCV000578191 RCV006556287

NM_001165963.4(SCN1A):c.4853-1G>C

SNV
Germline

Chr2:165992423

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349070819

rs_1553520530

4 SubmittersRCV000578728 RCV001387750 RCV002289845

NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter)

SNV
Germline

Chr2:166037994

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349061512

rs_794726721

1 SubmittersRCV000585857

NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His)

SNV
Germline

Chr2:166054747

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349075669

rs_1553551493

3 SubmittersRCV000585806 RCV005645106 RCV006463459

NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg)

SNV
Germline

Chr2:166058615

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349076981

rs_1553553462

1 SubmittersRCV000585829

NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile)

SNV
Germline

Chr2:165994386

Conflicting classifications of pathogenicity

Condition: not provided
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA1942758

rs_780360360

7 SubmittersRCV000587898 RCV000764285 RCV001262414 RCV002317333 RCV006463468

NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn)

SNV
Germline

Chr2:165991287

Conflicting classifications of pathogenicity

Condition: not provided
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA59797683

rs_371243629

4 SubmittersRCV000593278 RCV000764281 RCV006556312

NM_001330723.2(SNX27):c.1218C>G (p.Tyr406Ter)

SNV
Germline

Chr1:151683424

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA341969737

rs_201966711

1 SubmittersRCV000638203

NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=)

SNV
Germline

Chr2:166043909

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
not specified
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA1943246

rs_139403702

4 SubmittersRCV000768076 RCV000828047 RCV003224357 RCV004702227 RCV006608770

NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)

SNV
Germline

Chr2:165991462

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA59797796

rs_915676341

3 SubmittersRCV001089689 RCV001706692 RCV006463746

NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)

SNV
Germline

Chr2:165991807

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349065960

rs_1559101839

4 SubmittersRCV001200252 RCV001253286 RCV006463930

NM_001165963.4(SCN1A):c.4581+5G>C

SNV
Germline

Chr2:165996008

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA891842565

rs_1559114303

2 SubmittersRCV002289971 RCV006463923

NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro)

SNV
Germline

Chr2:166054683

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA349075420

rs_1559245847

2 SubmittersRCV004796286 RCV006463990

NM_001165963.4(SCN1A):c.4319C>T (p.Ala1440Val)

SNV
Germline

Chr2:165999742

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Acute encephalopathy
Condition: not provided
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA349049565

rs_1559122124

3 SubmittersRCV001251425 RCV005620387 RCV006463947

NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)

SNV
Germline

Chr2:166013838

Pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349056157

rs_1559149128

2 SubmittersRCV000703313 RCV000986888

NM_001165963.4(SCN1A):c.311C>A (p.Ala104Asp)

SNV
Germline

Chr2:166058642

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349077094

rs_1553553527

2 SubmittersRCV002283507 RCV006607697

NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter)

SNV
Germline

Chr2:166046793

Pathogenic

Condition: not provided
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349070329

rs_1553546668

3 SubmittersRCV000760615 RCV002500983 RCV006556619

NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)

SNV
Germline

Chr2:165992209

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA349069410

rs_1559104676

3 SubmittersRCV000770782 RCV001004769 RCV006464177

NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile)

SNV
Germline

Chr2:166002623

Likely pathogenic

Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349050331

rs_1131691775

1 SubmittersRCV000850510

NM_001165963.4(SCN1A):c.265-2143G>A

SNV
Germline

Chr2:166060831

Likely pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA915942935

rs_1574312497

1 SubmittersRCV000855539

NM_001330723.2(SNX27):c.1237A>T (p.Met413Leu)

SNV
Germline

Chr1:151683443

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1093613

rs_144336311

2 SubmittersRCV000879283 RCV002536812

NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)

SNV
Germline

Chr2:165992014

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349068336

rs_796053036

2 SubmittersRCV000986870 RCV006464894

NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)

SNV
Germline

Chr2:165992413

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349070729

rs_1573953706

2 SubmittersRCV000986872 RCV006464895

NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter)

SNV
Unknown

Chr2:165994294

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071964

rs_1573963975

1 SubmittersRCV000986875

NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys)

SNV
Germline

Chr2:165998086

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349049307

rs_1573984110

2 SubmittersRCV000986879 RCV006464896

NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)

SNV
Germline

Chr2:165999734

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA349049554

rs_1573991676

2 SubmittersRCV000986880

NM_001165963.4(SCN1A):c.4003-1G>A

SNV
Germline

Chr2:166002754

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349050905

rs_1574007140

2 SubmittersRCV000986882 RCV006464897

NM_001165963.4(SCN1A):c.3429+1G>T

SNV
Germline

Chr2:166036047

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349058951

rs_1574166948

4 SubmittersRCV000986892 RCV001593162 RCV006464898

NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter)

SNV
Unknown

Chr2:166036166

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349059329

rs_1574168611

1 SubmittersRCV000986893

NM_001165963.4(SCN1A):c.2691G>T (p.Leu897Phe)

SNV
Unknown

Chr2:166038031

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349061588

rs_1574183148

1 SubmittersRCV000986895

NM_001165963.4(SCN1A):c.2415+1G>A

SNV
Unknown

Chr2:166041230

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349063643

rs_886041292

1 SubmittersRCV000986897

NM_001165963.4(SCN1A):c.2131C>T (p.Gln711Ter)

SNV
Germline

Chr2:166042337

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349065788

rs_1574209023

2 SubmittersRCV000986901 RCV006464899

NM_001165963.4(SCN1A):c.1543A>T (p.Lys515Ter)

SNV
Unknown

Chr2:166045162

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349069422

rs_1553545567

1 SubmittersRCV000986905

NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile)

SNV
Germline

Chr2:166046943

Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349070987

rs_796053094

2 SubmittersRCV000986906 RCV006556866

NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys)

SNV
Unknown

Chr2:166047720

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071317

rs_1574240716

1 SubmittersRCV000986907

NM_001165963.4(SCN1A):c.1028+1G>A

SNV
Germline

Chr2:166048885

Pathogenic

Severe myoclonic epilepsy in infancy
Seizure

Criteria Provided
Single Submitter

CA349071536

rs_863225030

2 SubmittersRCV000986908 RCV002275232

NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys)

SNV
Unknown

Chr2:166051741

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349072514

rs_1553549471

1 SubmittersRCV000986910

NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr)

SNV
Germline

Chr2:166051853

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349073101

rs_1574264920

2 SubmittersRCV000986911 RCV006464900

NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu)

SNV
Unknown

Chr2:166052863

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349074053

rs_1574271644

1 SubmittersRCV000986914

NM_001165963.4(SCN1A):c.384-12A>C

SNV
Unknown

Chr2:166056512

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA915942933

rs_1574291210

1 SubmittersRCV000986917

NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly)

SNV
Unknown

Chr2:165992360

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349070273

rs_1573953030

1 SubmittersRCV001003341

NM_001165963.4(SCN1A):c.4676T>C (p.Met1559Thr)

SNV
Germline

Chr2:165994322

Conflicting classifications of pathogenicity

Microcephaly
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA349072113

rs_1689707865

4 SubmittersRCV001252702 RCV004720031 RCV005633803 RCV006464965

NM_001165963.4(SCN1A):c.2415+2T>C

SNV
Germline

Chr2:166041229

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349063637

rs_1574201555

1 SubmittersRCV001027711

NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly)

SNV
Germline

Chr2:166073380

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA349242686

rs_1684663181

2 SubmittersRCV001030755 RCV006465079

NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter)

SNV
Germline

Chr2:166054701

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349075494

rs_1574281711

2 SubmittersRCV001089717 RCV006465139

NM_001165963.4(SCN1A):c.886A>G (p.Ile296Val)

SNV
Germline

Chr2:166051797

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Condition: not provided
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA1943423

rs_373772491

3 SubmittersRCV002489571 RCV005415600 RCV006464723

NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met)

SNV
Germline

Chr2:166039490

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA1943098

rs_750901301

3 SubmittersRCV001729785 RCV002553797 RCV006464842

NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu)

SNV
Germline

Chr2:166037930

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349061364

rs_794726718

3 SubmittersRCV001038397 RCV001328666 RCV005622052

NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe)

SNV
Germline

Chr2:166036506

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349060579

rs_1696401617

2 SubmittersRCV001809976 RCV006465265

NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met)

SNV
Germline

Chr2:166002708

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349050699

rs_1574006637

3 SubmittersRCV002283519 RCV006465151

NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro)

SNV
Germline

Chr2:165991507

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349064046

rs_1689139851

1 SubmittersRCV001089695

NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro)

SNV
Germline

Chr2:165991729

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349065489

rs_1689186812

1 SubmittersRCV001089696

NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)

SNV
Germline

Chr2:165998086

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349049305

rs_1573984110

1 SubmittersRCV001089693

NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)

SNV
Germline

Chr2:166002662

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349050483

rs_1691073965

2 SubmittersRCV001089990 RCV006465332

NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr)

SNV
Germline

Chr2:166041406

Conflicting classifications of pathogenicity

Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA59791966

rs_980156920

4 SubmittersRCV001092115 RCV004819237 RCV006465344

NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro)

SNV
Unknown

Chr2:166047686

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071194

rs_1698009615

1 SubmittersRCV001095640

NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro)

SNV
Germline

Chr2:166036502

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA349060568

rs_1696400496

2 SubmittersRCV001095667 RCV004796366

NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His)

SNV
Unknown

Chr2:165996069

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349048709

rs_1690003122

1 SubmittersRCV001169858

NM_001165963.4(SCN1A):c.2867T>C (p.Met956Thr)

SNV
Germline

Chr2:166037855

Pathogenic/Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 1
Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349061088

rs_1696619508

5 SubmittersRCV001171310 RCV003992456 RCV005601686 RCV006465530

NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)

SNV
Germline

Chr2:165999737

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA349049558

rs_1690574155

2 SubmittersRCV001194674

NM_001330723.2(SNX27):c.703C>T (p.Arg235Ter)

SNV
Germline

Chr1:151658394

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA1093457

rs_770358039

2 SubmittersRCV001200362 RCV002560275

NM_001165963.4(SCN1A):c.4990A>C (p.Met1664Leu)

SNV
Germline

Chr2:165992285

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349069850

rs_1689339718

2 SubmittersRCV001200253 RCV004761970

NM_001165963.4(SCN1A):c.1883C>A (p.Ser628Ter)

SNV
Germline

Chr2:166043829

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349067369

rs_1697440060

2 SubmittersRCV004594251 RCV006465898

NM_001165963.4(SCN1A):c.5051A>G (p.Tyr1684Cys)

SNV
Germline

Chr2:165992224

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349069478

rs_1689321394

2 SubmittersRCV004699130 RCV006465840

NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro)

SNV
Germline

Chr2:165994223

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA349071572

rs_1689684958

2 SubmittersRCV003992462 RCV006465759

NM_001165963.4(SCN1A):c.3879+5G>T

SNV
Germline

Chr2:166012104

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1139657299

rs_796052999

3 SubmittersRCV001216784 RCV003339537 RCV003142161

NM_001165963.4(SCN1A):c.474-1G>A

SNV
Germline

Chr2:166054767

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349075748

rs_1698962501

2 SubmittersRCV003313993 RCV006465865

NM_001165963.4(SCN1A):c.5293T>C (p.Phe1765Leu)

SNV
Germline

Chr2:165991982

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA349068266

rs_1689251604

2 SubmittersRCV003992474 RCV006466062

NM_001165963.4(SCN1A):c.3478G>A (p.Gly1160Ser)

SNV
Germline

Chr2:166015679

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA1942946

rs_776752552

3 SubmittersRCV002504309 RCV005268989 RCV006608544

NM_001165963.4(SCN1A):c.2796G>A (p.Trp932Ter)

SNV
Germline

Chr2:166037926

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349061357

rs_1553541303

2 SubmittersRCV005622083 RCV006465989

NM_001165963.4(SCN1A):c.2369A>T (p.Tyr790Phe)

SNV
Germline

Chr2:166041277

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Febrile seizures, familial, 1
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA1943130

rs_121918782

6 SubmittersRCV005630896 RCV005860199 RCV005863391 RCV005866885 RCV006557230

NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter)

SNV
Germline

Chr2:166051844

Pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349073036

rs_1698593264

3 SubmittersRCV002249823 RCV002497799 RCV006466027

NM_001165963.4(SCN1A):c.576G>A (p.Trp192Ter)

SNV
Germline

Chr2:166054664

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349075345

rs_1553551361

2 SubmittersRCV001240448 RCV005909138

NM_001165963.4(SCN1A):c.4581+1G>A

SNV
Germline

Chr2:165996012

Pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Ovarian serous cystadenocarcinoma
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349048537

rs_1689986058

4 SubmittersRCV002246223 RCV002290651 RCV005909109 RCV006466036

NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys)

SNV
Germline

Chr2:166058608

Pathogenic

Severe myoclonic epilepsy in infancy
Familial hemiplegic migraine
Generalized epilepsy with febrile seizures plus
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349076939

rs_61741123

3 SubmittersRCV001249174 RCV002508953 RCV006557243

NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter)

SNV
Germline

Chr2:166052940

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349074425

rs_374555589

1 SubmittersRCV001250741

NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala)

SNV
Germline

Chr2:166047725

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071329

rs_121917923

1 SubmittersRCV001253422

NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile)

SNV
Germline

Chr2:166054755

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349075694

rs_1698960532

3 SubmittersRCV001253083 RCV003325310 RCV006466133

NM_001165963.4(SCN1A):c.4581+18A>G

SNV
Germline

Chr2:165995995

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA1139655698

rs_1689981394

1 SubmittersRCV001253126

NM_001165963.4(SCN1A):c.4002+1G>T

SNV
Germline

Chr2:166009718

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349052816

rs_1692153643

3 SubmittersRCV001253084 RCV001507579 RCV001528184

NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg)

SNV
Germline

Chr2:166036514

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349060603

rs_1696403356

1 SubmittersRCV001256670

NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly)

SNV
Unknown

Chr2:165992095

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349068751

rs_1689278062

2 SubmittersRCV001261536

NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp)

SNV
Germline

Chr2:166052917

Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349074304

rs_1698747852

2 SubmittersRCV001262229 RCV001775164

NM_001165963.4(SCN1A):c.4871T>C (p.Leu1624Pro)

SNV
Unknown

Chr2:165992404

Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349070658

rs_1689377026

2 SubmittersRCV001288396 RCV003992489

NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser)

SNV
Germline

Chr2:165992102

Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349068793

rs_1689280236

3 SubmittersRCV001289475 RCV006557319 RCV006446096

NM_001165963.4(SCN1A):c.5797C>T (p.Arg1933Ter)

SNV
Germline

Chr2:165991478

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA349063799

rs_1351809843

3 SubmittersRCV005860210 RCV006455615 RCV006466288

NM_001165963.4(SCN1A):c.2691G>C (p.Leu897Phe)

SNV
Germline

Chr2:166038031

Likely pathogenic

Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA349061589

rs_1574183148

2 SubmittersRCV001311217 RCV006605331

NM_001165963.4(SCN1A):c.1377G>A (p.Gln459=)

SNV
Germline

Chr2:166046770

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA429902838

rs_1697877323

3 SubmittersRCV001311220 RCV005861231

NM_001165963.4(SCN1A):c.1662+1G>C

SNV
Germline

Chr2:166045042

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349068217

rs_794726749

2 SubmittersRCV001328665 RCV006557368

NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala)

SNV
Germline

Chr2:166048928

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349071694

rs_779184118

3 SubmittersRCV001334845 RCV004789531 RCV006466520

NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp)

SNV
Germline

Chr2:165991694

Pathogenic/Likely pathogenic

Seizure
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349065361

rs_760906812

3 SubmittersRCV001353143 RCV005243521 RCV006466652

NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro)

SNV
Germline

Chr2:166047628

Pathogenic/Likely pathogenic

Migraine, familial hemiplegic, 3
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349071063

rs_746413385

2 SubmittersRCV004546642 RCV006466727

NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu)

SNV
Germline

Chr2:166047760

Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071447

rs_2105868295

1 SubmittersRCV001374630

NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)

SNV
Germline

Chr2:165991967

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349068196

rs_1573947939

1 SubmittersRCV001375625

NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter)

SNV
Germline

Chr2:166013837

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349056154

rs_1553532671

2 SubmittersRCV001375622 RCV006466796

NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)

SNV
Germline

Chr2:166047679

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349071179

rs_1553547448

2 SubmittersRCV001375626 RCV006557418

NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg)

SNV
Germline

Chr2:166056450

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349075975

rs_121918631

1 SubmittersRCV001375629

NM_001165963.4(SCN1A):c.2618G>A (p.Trp873Ter)

SNV
Germline

Chr2:166038104

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA349061739

rs_2105808640

2 SubmittersRCV003326150 RCV006466891

NM_001165963.4(SCN1A):c.2244G>A (p.Trp748Ter)

SNV
Germline

Chr2:166041402

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349064931

rs_1553543340

3 SubmittersRCV001816000 RCV004596450 RCV006466839

NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val)

SNV
Germline

Chr2:166051871

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349073215

rs_2105889854

2 SubmittersRCV002283547 RCV006466861

NM_001330723.2(SNX27):c.802-4C>T

SNV
Germline

Chr1:151662162

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1093500

rs_373727297

2 SubmittersRCV001393545 RCV002552662

NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)

SNV
Germline

Chr2:165994397

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349072336

rs_2105449751

2 SubmittersRCV001420146 RCV006467057

NM_001165963.4(SCN1A):c.5300T>A (p.Val1767Asp)

SNV
Germline

Chr2:165991975

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349068223

rs_2105429648

1 SubmittersRCV001788511

NM_001165963.4(SCN1A):c.2791C>A (p.Arg931Ser)

SNV
Germline

Chr2:166037931

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349061365

rs_121918788

3 SubmittersRCV001530193 RCV006557504

NM_001165963.4(SCN1A):c.787C>G (p.Leu263Val)

SNV
Germline

Chr2:166051896

Pathogenic

Familial hemiplegic migraine
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA349073374

rs_2105890052

3 SubmittersRCV001533164 RCV003992532 RCV006467651

NM_001165963.4(SCN1A):c.4477-3T>A

SNV
Germline

Chr2:165996120

Likely pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA2499215186

rs_1690013843

1 SubmittersRCV001533454

NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter)

SNV
Unknown

Chr2:165991787

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349065806

rs_1553520103

1 SubmittersRCV001535823

NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr)

SNV
Germline

Chr2:166037876

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349061185

rs_1696624989

4 SubmittersRCV001535825 RCV001552269 RCV005429056 RCV006557515

NM_001165963.4(SCN1A):c.4852G>A (p.Gly1618Ser)

SNV
Germline

Chr2:165994146

Likely pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349071219

rs_2105447216

1 SubmittersRCV001837541

NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile)

SNV
Germline

Chr2:166009832

Conflicting classifications of pathogenicity

Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA349053504

rs_1260685558

3 SubmittersRCV001588181 RCV002275213 RCV006467742

NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr)

SNV
Unknown

Chr2:166012126

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349053910

rs_1553531134

1 SubmittersRCV001706948

NM_001165963.4(SCN1A):c.1247A>G (p.Asn416Ser)

SNV
Germline

Chr2:166046900

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349070890

rs_2105862220

2 SubmittersRCV001724786

NM_001165963.4(SCN1A):c.4284+1G>A

SNV
Germline

Chr2:166002471

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349049862

rs_1553524865

1 SubmittersRCV001731221

NM_001165963.4(SCN1A):c.840G>A (p.Trp280Ter)

SNV
Germline

Chr2:166051843

Pathogenic

Condition: not provided
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B

Criteria Provided
Multiple Submitters
No Conflicts

CA349073027

rs_1553549667

2 SubmittersRCV001784939 RCV005023255

NM_001165963.4(SCN1A):c.4582-2A>G

SNV
Germline

Chr2:165994418

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Single Submitter

CA349072391

rs_2105449932

2 SubmittersRCV001794532 RCV006557735

NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val)

SNV
Germline

Chr2:165998091

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349049328

rs_2105476084

1 SubmittersRCV001797854

NM_001165963.4(SCN1A):c.758T>C (p.Leu253Pro)

SNV
Germline

Chr2:166051925

Likely pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349073567

rs_2105890296

1 SubmittersRCV001814639

NM_001165963.4(SCN1A):c.4322C>T (p.Ala1441Val)

SNV
Germline

Chr2:165999739

Pathogenic/Likely pathogenic

Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349049563

rs_2105486615

2 SubmittersRCV004796692 RCV006468589

NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly)

SNV
Germline

Chr2:166045248

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA1943301

rs_777120925

2 SubmittersRCV002503405 RCV006610496

NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter)

SNV
Germline

Chr2:166036353

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349059897

rs_1553540342

2 SubmittersRCV003228035 RCV006468546

NM_001165963.4(SCN1A):c.76G>T (p.Glu26Ter)

SNV
Germline

Chr2:166073546

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA60270532

rs_76921794

2 SubmittersRCV005253949 RCV006468550

NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser)

SNV
Germline

Chr2:166051872

Pathogenic/Likely pathogenic

Migraine, familial hemiplegic, 3
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349073228

rs_2105889878

3 SubmittersRCV002479417 RCV005232717 RCV006468429

NM_001330723.2(SNX27):c.652C>T (p.Arg218Ter)

SNV
Germline

Chr1:151658343

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA341958796

rs_2102676931

1 SubmittersRCV001997033

NM_001165963.4(SCN1A):c.1175T>C (p.Leu392Ser)

SNV
Germline

Chr2:166046972

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA349071043

rs_2105862926

2 SubmittersRCV004796697 RCV006468729

NM_001330723.2(SNX27):c.1426C>T (p.Arg476Ter)

SNV
Germline

Chr1:151692947

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA341972939

rs_1346732190

1 SubmittersRCV001877806

NM_001330723.2(SNX27):c.1431G>A (p.Trp477Ter)

SNV
Germline

Chr1:151692952

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA341972964

rs_574654968

1 SubmittersRCV001975053

NM_001165963.4(SCN1A):c.352A>G (p.Arg118Gly)

SNV
Germline

Chr2:166058601

Likely pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349076917

rs_2105917940

1 SubmittersRCV002251785

NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr)

SNV
Unknown

Chr2:165999743

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349049570

rs_2105486716

1 SubmittersRCV002267698

NM_001165963.4(SCN1A):c.2806G>C (p.Asp936His)

SNV
Germline

Chr2:166037916

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349061332

rs_796052988

1 SubmittersRCV002276250

NM_001165963.4(SCN1A):c.4585A>T (p.Lys1529Ter)

SNV
Germline

Chr2:165994413

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349072378

rs_1553521087

1 SubmittersRCV002283736

NM_001165963.4(SCN1A):c.835C>T (p.Gln279Ter)

SNV
Germline

Chr2:166051848

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349073058

rs_1553549679

1 SubmittersRCV002283766

NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)

SNV
Germline

Chr2:165991981

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349068257

rs_1553520199

1 SubmittersRCV002283806

NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser)

SNV
Germline

Chr2:165998096

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349049338

rs_2468394208

1 SubmittersRCV002284136

NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter)

SNV
Germline

Chr2:165998134

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349049420

rs_2468394870

2 SubmittersRCV002284137 RCV006558753

NM_001165963.4(SCN1A):c.2846G>T (p.Cys949Phe)

SNV
Germline

Chr2:166037876

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349061182

rs_1696624989

1 SubmittersRCV002284138

NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro)

SNV
Germline

Chr2:166002578

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349050166

rs_2468435194

1 SubmittersRCV002284139

NM_001165963.4(SCN1A):c.1377+1G>A

SNV
Germline

Chr2:166046769

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349070173

rs_886043864

1 SubmittersRCV002284147

NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)

SNV
Germline

Chr2:165992098

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349068772

rs_2105431458

2 SubmittersRCV002289212 RCV006470446

NM_001165963.4(SCN1A):c.4493T>C (p.Ile1498Thr)

SNV
Germline

Chr2:165996101

Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349048857

rs_796053017

2 SubmittersRCV002290267 RCV003992625

NM_001165963.4(SCN1A):c.474-2A>G

SNV
Germline

Chr2:166054768

Pathogenic

Inborn genetic diseases
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349075752

rs_2468248065

2 SubmittersRCV002335526 RCV004577923

NM_001165963.4(SCN1A):c.5564C>A (p.Pro1855His)

SNV
Germline

Chr2:165991711

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349065433

rs_1057517958

1 SubmittersRCV002463570

NM_001165963.4(SCN1A):c.1006T>C (p.Cys336Arg)

SNV
Germline

Chr2:166048908

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071610

rs_398123578

1 SubmittersRCV002466351

NM_001165963.4(SCN1A):c.4003-4T>G

SNV
Germline

Chr2:166002757

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA2580064432

rs_2468438327

1 SubmittersRCV002466354

NM_001165963.4(SCN1A):c.4279C>T (p.Gln1427Ter)

SNV
Germline

Chr2:166002477

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349049871

rs_1553524889

1 SubmittersRCV002468781

NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)

SNV
Germline

Chr2:166012151

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349054076

rs_1303080207

1 SubmittersRCV002471421

NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)

SNV
Germline

Chr2:165992391

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA349070551

rs_2468341232

3 SubmittersRCV002510640 RCV003493962 RCV006471452

NM_001165963.4(SCN1A):c.4072T>C (p.Trp1358Arg)

SNV
Germline

Chr2:166002684

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349050613

rs_2468437301

2 SubmittersRCV005208197 RCV006472762

NM_001165963.4(SCN1A):c.3982T>C (p.Ser1328Pro)

SNV
Germline

Chr2:166009739

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349052944

rs_2468493029

2 SubmittersRCV005254720 RCV006472763

NM_001165963.4(SCN1A):c.7C>T (p.Gln3Ter)

SNV
Germline

Chr2:166073615

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349243507

rs_924198007

2 SubmittersRCV004763552 RCV006472782

NM_001165963.4(SCN1A):c.2589+1G>C

SNV
Germline

Chr2:166039422

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349062298

rs_1057517849

1 SubmittersRCV002510675

NM_001330723.2(SNX27):c.1492C>T (p.Arg498Ter)

SNV
Germline

Chr1:151693013

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA341973317

rs_1571881557

1 SubmittersRCV002862358

NM_001165963.4(SCN1A):c.947C>A (p.Ser316Ter)

SNV
Germline

Chr2:166051736

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349072489

rs_2468220881

2 SubmittersRCV003483899 RCV006560037

NM_001165963.4(SCN1A):c.2720T>G (p.Val907Gly)

SNV
Germline

Chr2:166038002

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349061526

rs_2468098623

1 SubmittersRCV002789969

NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter)

SNV
Germline

Chr2:166045239

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349069707

rs_1553545740

1 SubmittersRCV003128170

NM_001165963.4(SCN1A):c.1171-1G>A

SNV
Germline

Chr2:166046977

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349071055

rs_2468182873

3 SubmittersRCV003159277 RCV005241257 RCV006561116

NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)

SNV
Germline

Chr2:165998102

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA349049351

rs_794726809

3 SubmittersRCV003226889 RCV003235813 RCV005273645

NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)

SNV
Unknown

Chr2:165998135

Likely pathogenic

Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349049423

rs_2468394894

1 SubmittersRCV003234626

NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro)

SNV
Germline

Chr2:165992368

Likely pathogenic

Severe myoclonic epilepsy in infancy
SCN1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA349070330

rs_121917995

2 SubmittersRCV003234956 RCV005870125

NM_001165963.4(SCN1A):c.4943G>C (p.Arg1648Pro)

SNV
Germline

Chr2:165992332

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA349070084

rs_121918622

3 SubmittersRCV003312497 RCV004763643

NM_001165963.4(SCN1A):c.1186G>A (p.Gly396Arg)

SNV
Germline

Chr2:166046961

Pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349071025

rs_2468182612

2 SubmittersRCV003314358 RCV006561401

NM_001165963.4(SCN1A):c.965-2A>G

SNV
Unknown

Chr2:166048951

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071831

rs_2468200648

1 SubmittersRCV003459827

NM_001165963.4(SCN1A):c.2344A>C (p.Thr782Pro)

SNV
Germline

Chr2:166041302

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349064135

rs_1574202324

1 SubmittersRCV003324608

NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro)

SNV
Germline

Chr2:165994229

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349071613

rs_2468358829

1 SubmittersRCV003326175

NM_001165963.4(SCN1A):c.1843G>A (p.Gly615Arg)

SNV
Germline

Chr2:166043869

Conflicting classifications of pathogenicity

SCN1A-related disorder
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Developmental and epileptic encephalopathy 6B
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA349067476

rs_1271824691

3 SubmittersRCV004536742 RCV005021958 RCV006561599

NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)

SNV
Germline

Chr2:166002632

Likely pathogenic

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA349050370

rs_2468436385

2 SubmittersRCV003455878 RCV006561664

NM_001165963.4(SCN1A):c.2415+1G>T

SNV
Unknown

Chr2:166041230

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349063647

rs_886041292

1 SubmittersRCV003485998

NM_001165963.4(SCN1A):c.173G>T (p.Gly58Val)

SNV
Germline

Chr2:166073449

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349242938

rs_2468365428

1 SubmittersRCV003494564

NM_001330723.2(SNX27):c.1072C>T (p.Arg358Ter)

SNV
Germline

Chr1:151668558

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA341966249

rs_2525037609

1 SubmittersRCV003508185

NM_001330723.2(SNX27):c.1474C>T (p.Arg492Ter)

SNV
Germline

Chr1:151692995

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA341973191

rs_2525156811

1 SubmittersRCV003616254

NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)

SNV
Germline

Chr2:166073381

Pathogenic

Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B

Criteria Provided
Single Submitter

CA349242691

rs_2468364026

1 SubmittersRCV003883276

NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)

SNV
Germline

Chr2:166046862

Pathogenic

Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B

Criteria Provided
Single Submitter

CA349070767

rs_1455927233

1 SubmittersRCV003883365

NM_001165963.4(SCN1A):c.530G>C (p.Gly177Ala)

SNV
Germline

Chr2:166054710

Pathogenic

Severe myoclonic epilepsy in infancy
SCN1A-related disorder

Criteria Provided
Single Submitter

CA349075527

rs_121918770

2 SubmittersRCV003992841 RCV005871488

NM_001165963.4(SCN1A):c.706A>G (p.Ile236Val)

SNV
Germline

Chr2:166051977

Likely pathogenic

Severe myoclonic epilepsy in infancy
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis (NDEEMA)

Criteria Provided
Single Submitter

CA349073838

rs_2468225401

2 SubmittersRCV003992843 RCV005623546

NM_001165963.4(SCN1A):c.437C>A (p.Thr146Lys)

SNV
Germline

Chr2:166056447

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349075965

rs_2468258442

1 SubmittersRCV003989929

NM_001165963.4(SCN1A):c.2432T>C (p.Phe811Ser)

SNV
Germline

Chr2:166039580

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349062761

rs_2468115658

1 SubmittersRCV003989079

NM_001165963.4(SCN1A):c.3668T>G (p.Phe1223Cys)

SNV
Germline

Chr2:166013781

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349055866

rs_2468531169

1 SubmittersRCV003990578

NM_001165963.4(SCN1A):c.5170G>C (p.Ala1724Pro)

SNV
Germline

Chr2:165992105

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349068804

rs_2468336343

1 SubmittersRCV003989364

NM_001165963.4(SCN1A):c.412A>G (p.Ile138Val)

SNV
Germline

Chr2:166056472

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349076064

rs_2468258726

1 SubmittersRCV003993583

NM_001165963.4(SCN1A):c.1142A>G (p.Gln381Arg)

SNV
Germline

Chr2:166047655

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071128

rs_2468188755

1 SubmittersRCV003991796

NM_001165963.4(SCN1A):c.560G>C (p.Arg187Pro)

SNV
Germline

Chr2:166054680

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

rs_777631884

1 SubmittersRCV004577932

NM_001165963.4(SCN1A):c.2869T>C (p.Trp957Arg)

SNV
Germline

Chr2:166037853

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

rs_1696618804

1 SubmittersRCV004577933

NM_001165963.4(SCN1A):c.4279C>A (p.Gln1427Lys)

SNV
Germline

Chr2:166002477

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV004596624

NM_001165963.4(SCN1A):c.384-2A>G

SNV
Germline

Chr2:166056502

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV004596625

NM_001165963.4(SCN1A):c.2808C>G (p.Asp936Glu)

SNV
Germline

Chr2:166037914

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV004596626

NM_001165963.4(SCN1A):c.383+2T>C

SNV
Germline

Chr2:166058568

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV004771693

NM_001165963.4(SCN1A):c.4117T>A (p.Phe1373Ile)

SNV
Germline

Chr2:166002639

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV004776385

NM_001165963.4(SCN1A):c.2360T>A (p.Met787Lys)

SNV
Germline

Chr2:166041286

Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B

Criteria Provided
Single Submitter

1 SubmittersRCV004795495

NM_001165963.4(SCN1A):c.5080T>C (p.Tyr1694His)

SNV
Unknown

Chr2:165992195

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005001952

NM_001165963.4(SCN1A):c.5741A>C (p.Gln1914Pro)

SNV
Germline

Chr2:165991534

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005002100

NM_001330723.2(SNX27):c.1240-2A>G

SNV
Germline

Chr1:151692433

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005140163

NM_001165963.4(SCN1A):c.1037C>A (p.Pro346Gln)

SNV
Germline

Chr2:166047760

Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Febrile seizures, familial, 3a

Criteria Provided
Single Submitter

1 SubmittersRCV005244159

NM_001165963.4(SCN1A):c.4576C>A (p.Pro1526Thr)

SNV
Germline

Chr2:165996018

Likely pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005244162

NM_001165963.4(SCN1A):c.1013A>G (p.Asn338Ser)

SNV
Germline

Chr2:166048901

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005628168

NM_001165963.4(SCN1A):c.4480G>T (p.Gly1494Ter)

SNV
Germline

Chr2:165996114

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005628169

NM_001165963.4(SCN1A):c.4852+1G>C

SNV
Unknown

Chr2:165994145

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005628172

NM_001165963.4(SCN1A):c.4003-2A>G

SNV
Germline

Chr2:166002755

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005252230

NM_001165963.4(SCN1A):c.332T>A (p.Leu111Ter)

SNV
Germline

Chr2:166058621

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005252396

NM_001165963.4(SCN1A):c.5424C>A (p.Phe1808Leu)

SNV
Germline

Chr2:165991851

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005411158

NM_001165963.4(SCN1A):c.3706G>A (p.Ala1236Thr)

SNV
Unknown

Chr2:166012282

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005411174

NM_001165963.4(SCN1A):c.5366T>C (p.Phe1789Ser)

SNV
Germline

Chr2:165991909

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005622865

NM_001165963.4(SCN1A):c.1214T>C (p.Leu405Ser)

SNV
Germline

Chr2:166046933

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005622866

NM_001165963.4(SCN1A):c.964+1G>T

SNV
Germline

Chr2:166051718

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005860804

NM_001165963.4(SCN1A):c.3409G>C (p.Asp1137His)

SNV
Germline

Chr2:166036068

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005859918

NM_001165963.4(SCN1A):c.4655G>A (p.Cys1552Tyr)

SNV
Germline

Chr2:165994343

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Early-infantile DEE

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005884525 RCV006490048

NM_001165963.4(SCN1A):c.3953T>G (p.Leu1318Arg)

SNV
Germline

Chr2:166009768

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV006257472

NM_001165963.4(SCN1A):c.826A>G (p.Lys276Glu)

SNV
Germline

Chr2:166051857

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV006257998

NM_001165963.4(SCN1A):c.4243T>G (p.Phe1415Val)

SNV
Germline

Chr2:166002513

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV006261861

NM_001165963.4(SCN1A):c.2415+431C>G

SNV
Germline

Chr2:166040800

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV006553820