Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu)	SNV Germline	Chr11:792429	Pathogenic/Likely pathogenic	Early myoclonic encephalopathy Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 3	Criteria Provided Multiple Submitters No Conflicts	CA115172	rs_121918334	3 SubmittersRCV000001847 RCV001851565 RCV002508754
NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp)	SNV Germline	Chr9:127682489	Pathogenic	Developmental and epileptic encephalopathy, 4 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA118448	rs_121918317	3 SubmittersRCV000007118 RCV003588557
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)	SNV Germline	Chr9:127675855	Pathogenic	Developmental and epileptic encephalopathy, 4 Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Infantile epilepsy syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA118456	rs_121918321	9 SubmittersRCV000007122 RCV000189612 RCV000539734 RCV001265424 RCV001266381
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr)	SNV Germline	Chr20:63439609	Pathogenic	Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Complex neurodevelopmental disorder Inborn genetic diseases Developmental and epileptic encephalopathy, 7	Criteria Provided Multiple Submitters No Conflicts	CA340674	rs_74315390	8 SubmittersRCV000007807 RCV001245227 RCV001564572 RCV003315291 RCV002316186 RCV002264637
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp)	SNV Germline	Chr20:63444709	Pathogenic/Likely pathogenic	Seizures, benign familial neonatal, 1 Neonatal/infantile epilepsy syndrome Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA245495	rs_28939684	8 SubmittersRCV000007810 RCV004786244 RCV000790713 RCV001851725 RCV003315292
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp)	SNV Germline	Chr20:63444730	Pathogenic	Seizures, benign familial neonatal, 1, and/or myokymia Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Inborn genetic diseases Complex neurodevelopmental disorder Seizures, benign familial neonatal, 1 Developmental and epileptic encephalopathy, 7	Criteria Provided Multiple Submitters No Conflicts	CA118744	rs_74315391	10 SubmittersRCV000007811 RCV000636312 RCV000187862 RCV000623725 RCV003315293 RCV000678084 RCV002255996
NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp)	SNV Germline	Chr20:63442482	Pathogenic	Developmental and epileptic encephalopathy, 7 Seizures, benign familial neonatal, 2 Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA130021	rs_74315392	4 SubmittersRCV000030664 RCV000678092 RCV001059860 RCV003441710
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln)	SNV Germline	Chr20:63444729	Pathogenic	Seizures, benign familial neonatal, 1, and/or myokymia Condition: not provided Early infantile epileptic encephalopathy with suppression bursts KCNQ2-related disorder Developmental and epileptic encephalopathy, 7 Developmental and epileptic encephalopathy, 7 Seizures, benign familial neonatal, 1 Complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA118745	rs_118192200	8 SubmittersRCV000007815 RCV000187863 RCV001205287 RCV004732533 RCV000678085 RCV000763453 RCV003315294
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)	SNV Germline	Chr2:165373331	Pathogenic	Seizures, benign familial infantile, 3 Condition: not provided Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 11 Complex neurodevelopmental disorder Benign familial infantile epilepsy benign sporadic infantile epilepsy	Criteria Provided Multiple Submitters No Conflicts	CA122773		10 SubmittersRCV000013740 RCV000189142 RCV001218692 RCV001847598 RCV001260972 RCV001265327 RCV001847599 RCV003155910
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 Early infantile epileptic encephalopathy with suppression bursts Autosomal dominant epilepsy	Criteria Provided Multiple Submitters No Conflicts	CA256584	rs_121918622	6 SubmittersRCV000013742 RCV000059521 RCV000484119 RCV001040793 RCV001192959
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 Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy Condition: not provided Inborn genetic diseases Seizure SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256587	rs_121918623	11 SubmittersRCV000013743 RCV000059471 RCV000686817 RCV001253103 RCV001311218 RCV002316193 RCV004554602 RCV004724740
NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val)	SNV Germline	Chr2:166054677	Likely pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 1 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA256590	rs_121917953	3 SubmittersRCV000013744 RCV000059448 RCV000636336
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 Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA256596	rs_121917955	4 SubmittersRCV000013746 RCV000059433 RCV001385324 RCV003992151
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)	SNV Germline	Chr2:166052882	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Early infantile epileptic encephalopathy with suppression bursts Intellectual disability Inborn genetic diseases Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA273115	rs_121918624	15 SubmittersRCV000032604 RCV000188841 RCV000763461 RCV001037392 RCV001257707 RCV002316194 RCV003388823
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe)	SNV Germline	Chr2:166036521	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA281911	rs_121918625	4 SubmittersRCV000032605 RCV000794577
NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr)	SNV Germline	Chr2:166012179	Pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 1 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA256602	rs_121918626	3 SubmittersRCV000013751 RCV000059501 RCV002513023
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)	SNV Germline	Chr2:165992149	Likely pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA256611	rs_121918629	4 SubmittersRCV000013755 RCV000013754 RCV001296128
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu)	SNV Germline	Chr2:165996099	Pathogenic	Migraine, familial hemiplegic, 3 Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA256620	rs_121918632	6 SubmittersRCV000013765 RCV001090363 RCV001857344 RCV003992154
NM_172107.4(KCNQ2):c.1057C>G (p.Arg353Gly)	SNV Germline	Chr20:63433870	Pathogenic	Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial neonatal, 1	Criteria Provided Single Submitter		rs_118192218	2 SubmittersRCV002513153 RCV000678053
NM_172107.4(KCNQ2):c.1076C>A (p.Thr359Lys)	SNV Germline	Chr20:63433851	Pathogenic	Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter		rs_118192219	2 SubmittersRCV000678054 RCV000800574
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter)	SNV Germline	Chr20:63415086	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Seizure Seizures, benign familial neonatal, 1 Inborn genetic diseases Developmental and epileptic encephalopathy, 7	Criteria Provided Multiple Submitters No Conflicts	CA315443	rs_118192226	8 SubmittersRCV000187902 RCV000463586 RCV000720328 RCV000020970 RCV002316200 RCV003228898
NM_172107.4(KCNQ2):c.1525+1G>A	SNV Germline	Chr20:63414902	Pathogenic	Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial neonatal, 1	Criteria Provided Multiple Submitters No Conflicts	CA342470	rs_118192228	3 SubmittersRCV000534709 RCV000678058
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)	SNV Germline	Chr20:63414174	Conflicting classifications of pathogenicity	Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases not specified Condition: not provided Complex neurodevelopmental disorder	Criteria Provided Conflicting Classifications	CA288924	rs_117067974	8 SubmittersRCV000020972 RCV000465560 RCV002313718 RCV000117341 RCV001703417 RCV003315295
NM_172107.4(KCNQ2):c.1632-1G>T	SNV Germline	Chr20:63413582	Conflicting classifications of pathogenicity	Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications		rs_118192233	3 SubmittersRCV000678108 RCV002513154
NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln)	SNV Germline	Chr20:63413555	Pathogenic	Condition: not provided Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 7	Criteria Provided Multiple Submitters No Conflicts	CA315465	rs_118192234	6 SubmittersRCV000187913 RCV000678060 RCV001248564 RCV004798741
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)	SNV Germline	Chr20:63413472	Pathogenic	Condition: not provided Seizures, benign familial neonatal, 1 Seizure Early infantile epileptic encephalopathy with suppression bursts KCNQ2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA315486	rs_118192236	8 SubmittersRCV000187920 RCV000678061 RCV004554609 RCV000636351 RCV003335050
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln)	SNV Germline	Chr20:63413471	Pathogenic/Likely pathogenic	Condition: not provided Epileptic encephalopathy Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA315489	rs_118192235	7 SubmittersRCV000187921 RCV000416983 RCV000678062 RCV000792605 RCV002399331 RCV003315296
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val)	SNV Germline	Chr20:63472463	Pathogenic/Likely pathogenic	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Seizures, benign familial neonatal, 1	Criteria Provided Multiple Submitters No Conflicts	CA342485	rs_118192185	4 SubmittersRCV000552408 RCV000421973 RCV000678067
NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu)	SNV Germline	Chr20:63406699	Conflicting classifications of pathogenicity	Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Conflicting Classifications		rs_12481082	3 SubmittersRCV000678071 RCV001209553 RCV001582491
NM_172107.4(KCNQ2):c.2T>C (p.Met1Thr)	SNV Germline	Chr20:63472462	Pathogenic	Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_118192186	3 SubmittersRCV000678074 RCV001057270 RCV004696638
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)	SNV Germline	Chr20:63446769	Pathogenic/Likely pathogenic	Condition: not provided Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 7 Seizures, benign familial neonatal, 1 Developmental and epileptic encephalopathy, 7 KCNQ2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA315351	rs_118192194	8 SubmittersRCV000187851 RCV000678078 RCV000692591 RCV000763058 RCV002510564 RCV001270883
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)	SNV Germline	Chr20:63444762	Pathogenic	Developmental and epileptic encephalopathy, 7 Condition: not provided KCNQ2-related disorder Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts Complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts		rs_118192199	12 SubmittersRCV001030036 RCV001092637 RCV004528127 RCV000678083 RCV001066784 RCV003315300
NM_172107.4(KCNQ2):c.622A>G (p.Met208Val)	SNV Germline	Chr20:63444727	Pathogenic	Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial neonatal, 1	Criteria Provided Single Submitter		rs_118192201	2 SubmittersRCV001221931 RCV000678086
NM_172107.4(KCNQ2):c.635A>G (p.Asp212Gly)	SNV Germline	Chr20:63444714	Pathogenic	Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial neonatal, 1 Complex neurodevelopmental disorder	Criteria Provided Single Submitter		rs_118192202	3 SubmittersRCV001851984 RCV000678087 RCV003315301
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)	SNV Germline	Chr20:63444712	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 7 Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial neonatal, 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA202848	rs_118192203	9 SubmittersRCV000187866 RCV000178400 RCV000234346 RCV000990336 RCV002354168
NM_172107.4(KCNQ2):c.684C>A (p.His228Gln)	SNV Germline	Chr20:63444665	Pathogenic	Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial neonatal, 1 Complex neurodevelopmental disorder	Criteria Provided Single Submitter		rs_118192204	3 SubmittersRCV001226409 RCV000678089 RCV003315302
NM_172107.4(KCNQ2):c.727C>T (p.Leu243Phe)	SNV Germline	Chr20:63442495	Pathogenic	Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts Complex neurodevelopmental disorder	Criteria Provided Single Submitter		rs_118192205	3 SubmittersRCV000678090 RCV002513155 RCV003315303
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly)	SNV Germline	Chr20:63442473	Likely pathogenic	Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter		rs_118192206	2 SubmittersRCV000678093 RCV001047068
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter)	SNV Germline	Chr20:63442415	Pathogenic	Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA315395	rs_118192208	4 SubmittersRCV000678095 RCV001050636 RCV001267035 RCV000187877
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp)	SNV Germline	Chr20:63438651	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 7 KCNQ2-related disorder Complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA315400	rs_118192215	7 SubmittersRCV000187879 RCV000636293 RCV000678101 RCV003315224 RCV003315305
NM_172107.4(KCNQ2):c.998G>A (p.Arg333Gln)	SNV Germline	Chr20:63438650	Pathogenic	Condition: not provided Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts Complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA342542	rs_118192216	5 SubmittersRCV000413623 RCV000678102 RCV000813877 RCV003315306
NM_172107.4(KCNQ2):c.1764-6C>A	SNV Germline	Chr20:63408542	Pathogenic	Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter		rs_118192239	2 SubmittersRCV000678110 RCV003588565
NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu)	SNV Germline	Chr2:165992269	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA281748	rs_397514458	2 SubmittersRCV000022764 RCV001379443
NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp)	SNV Germline	Chr12:51806788	Pathogenic	Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts Complex neurodevelopmental disorder	Criteria Provided Single Submitter	CA128948	rs_202151337	4 SubmittersRCV000023031 RCV001230237 RCV003992161
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)	SNV Germline	Chr20:63444711	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 7 Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial neonatal, 1 Developmental and epileptic encephalopathy, 7 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA130528		9 SubmittersRCV000032979 RCV000187867 RCV000698323 RCV000763452 RCV002354177
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)	SNV Germline	Chr16:56336744	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 17 Early infantile epileptic encephalopathy with suppression bursts Microcephaly Abnormality of the nervous system Rare genetic intellectual disability Neurodevelopmental disorder with involuntary movements Developmental and epileptic encephalopathy, 17 GNAO1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA214450		15 SubmittersRCV000255097 RCV000056408 RCV000468248 RCV001252685 RCV001814039 RCV001256978 RCV000762963 RCV003421966
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 Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA266086	rs_121917957	7 SubmittersRCV000059374 RCV000180936 RCV000188861 RCV001226020 RCV001775078
NM_001165963.4(SCN1A):c.1177C>A (p.Arg393Ser)	SNV Germline	Chr2:166046970	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA284865	rs_121917929	2 SubmittersRCV000059376 RCV001036662
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)	SNV Germline	Chr2:166046970	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Seizure Intellectual disability, mild Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA284868	rs_121917929	10 SubmittersRCV000059377 RCV000188854 RCV000554304 RCV000857236 RCV002262611
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)	SNV Germline	Chr2:166046969	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Migraine, familial hemiplegic, 3	Criteria Provided Multiple Submitters No Conflicts	CA284871	rs_121917927	15 SubmittersRCV000059378 RCV000188863 RCV000636386 RCV001198232
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 epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA284874	rs_121917966	3 SubmittersRCV000059380 RCV002345371 RCV002514305
NM_001165963.4(SCN1A):c.2435C>G (p.Thr812Arg)	SNV Germline	Chr2:166039577	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA284895	rs_121917941	2 SubmittersRCV000059390 RCV002513779
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys)	SNV Germline	Chr2:166073371	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA284901	rs_121917964	4 SubmittersRCV000059392 RCV000255485 RCV000695650 RCV000763463
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)	SNV Germline	Chr2:166037885	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2 Seizure Inborn genetic diseases Developmental and epileptic encephalopathy 6B	Criteria Provided Multiple Submitters No Conflicts	CA284910		13 SubmittersRCV000059395 RCV000378734 RCV000543457 RCV001004709 RCV001264404 RCV002433566 RCV004595905
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)	SNV Germline	Chr2:166058652	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Migraine, familial hemiplegic, 3	Criteria Provided Multiple Submitters No Conflicts	CA284919	rs_121917965	9 SubmittersRCV000059399 RCV000357692 RCV000541714 RCV001199316
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)	SNV Germline	Chr2:166058651	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts 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	CA273119	rs_121917918	10 SubmittersRCV000059400 RCV000188829 RCV000550639 RCV001197275 RCV004796001
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)	SNV Germline	Chr2:166013829	Likely pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA284925	rs_121917963	3 SubmittersRCV000059403 RCV000818870 RCV002054912
NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg)	SNV Germline	Chr2:166013752	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA284928	rs_121917911	2 SubmittersRCV000059404 RCV001344646
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 Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA234849	rs_121917973	7 SubmittersRCV000059405 RCV000723903 RCV001476333 RCV001836728
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)	SNV Germline	Chr2:166012254	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA284931	rs_121917912	6 SubmittersRCV000059406 RCV000188926 RCV000636387 RCV001836729 RCV004796002
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 Early infantile epileptic encephalopathy with suppression bursts Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA231476	rs_121917910	14 SubmittersRCV000059407 RCV000118242 RCV000188828 RCV001080063 RCV001133131 RCV001133132 RCV002313742 RCV004542732
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met)	SNV Germline	Chr2:166002753	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA284934	rs_121917960	4 SubmittersRCV000059408 RCV001202491 RCV003352765
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)	SNV Germline	Chr2:166002588	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA284940	rs_121917986	8 SubmittersRCV000059411 RCV000254970 RCV000804975 RCV002326783
NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly)	SNV Germline	Chr2:166002570	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA284943	rs_121917987	2 SubmittersRCV000059412 RCV002513780
NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys)	SNV Germline	Chr2:166002491	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA284949	rs_121917913	3 SubmittersRCV000059414 RCV001048734 RCV005000993
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu)	SNV Germline	Chr2:165998162	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts See cases	Criteria Provided Multiple Submitters No Conflicts	CA284961	rs_121917945	4 SubmittersRCV000059418 RCV000812820 RCV003224861
NM_001165963.4(SCN1A):c.4439G>T (p.Gly1480Val)	SNV Germline	Chr2:165998075	Pathogenic	Myoclonic encephalopathy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA145243	rs_121917996	2 SubmittersRCV000059423 RCV003588568
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)	SNV Germline	Chr2:165994365	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA284976	rs_121917975	4 SubmittersRCV000059425 RCV001069069 RCV001249684
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 epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA284979	rs_121917919	3 SubmittersRCV000059426 RCV000188974 RCV000636318
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)	SNV Germline	Chr2:165994212	Pathogenic/Likely pathogenic	Focal epilepsy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Autosomal dominant epilepsy	Criteria Provided Multiple Submitters No Conflicts	CA145250	rs_121917993	10 SubmittersRCV000059427 RCV000188978 RCV000794558 RCV001031013 RCV001253159 RCV002265592
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)	SNV Germline	Chr2:165994176	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Delayed speech and language development Seizure Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA284982	rs_121917915	6 SubmittersRCV000059428 RCV000584823 RCV000636349 RCV005000994
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met)	SNV Germline	Chr2:165992387	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA284988	rs_121917914	3 SubmittersRCV000059430 RCV001339387 RCV001781396
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)	SNV Germline	Chr2:165992368	Pathogenic/Likely pathogenic	Macrocephaly and epileptic encephalopathy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA145253	rs_121917995	8 SubmittersRCV000059431 RCV000176634 RCV000463147 RCV000623263 RCV002281560 RCV003448258
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)	SNV Germline	Chr2:165992341	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA284991	rs_121917976	8 SubmittersRCV000059432 RCV000188986 RCV000763457 RCV001198988 RCV001208285 RCV002316217
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His)	SNV Germline	Chr2:165992305	Pathogenic/Likely pathogenic	Focal epilepsy Autism Focal-onset seizure Microcephaly Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA145256	rs_121917994	5 SubmittersRCV000059434 RCV001003955 RCV001229900 RCV004786353 RCV004760364
NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe)	SNV Germline	Chr2:165991957	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA285015	rs_121917951	2 SubmittersRCV000059443 RCV000693267
NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr)	SNV Germline	Chr2:165991936	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA285018	rs_121917952	2 SubmittersRCV000059444 RCV001854242
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)	SNV Germline	Chr2:165991928	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B 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	CA285021	rs_121917980	10 SubmittersRCV000059445 RCV000188999 RCV001240035 RCV001849308 RCV002468563 RCV002490666
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)	SNV Germline	Chr2:165991927	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285024	rs_121917921	6 SubmittersRCV000059446 RCV000189000 RCV001207693
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)	SNV Germline	Chr2:166054660	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA285033	rs_121917935	10 SubmittersRCV000059451 RCV000522680 RCV000636440 RCV004019070
NM_001165963.4(SCN1A):c.650C>A (p.Thr217Lys)	SNV Germline	Chr2:166052896	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA285039	rs_121917936	2 SubmittersRCV000059453 RCV002513781
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	SNV Germline	Chr2:166052869	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Seizure Global developmental delay Developmental and epileptic encephalopathy 6B Developmental and epileptic encephalopathy, 6 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA285042	rs_121917984	16 SubmittersRCV000059454 RCV000188843 RCV000558296 RCV000763460 RCV001003956 RCV001420531 RCV002470755 RCV003764743
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser)	SNV Germline	Chr2:166052866	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285045	rs_121917937	7 SubmittersRCV000059455 RCV000188842 RCV000636408
NM_001165963.4(SCN1A):c.715G>A (p.Ala239Thr)	SNV Germline	Chr2:166051968	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285048	rs_121917985	3 SubmittersRCV000059456 RCV003588569
NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr)	SNV Germline	Chr2:166073542	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 1 Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA266095	rs_121917906	5 SubmittersRCV000059458 RCV000585038 RCV001453714 RCV002415520
NM_001165963.4(SCN1A):c.838T>C (p.Trp280Arg)	SNV Germline	Chr2:166051845	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285054	rs_121917938	3 SubmittersRCV000059459 RCV003588570
NM_001165963.4(SCN1A):c.965G>T (p.Arg322Ile)	SNV Germline	Chr2:166048949	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA285057	rs_121917928	2 SubmittersRCV000059460 RCV000808399
NM_001165963.4(SCN1A):c.1028G>A (p.Gly343Asp)	SNV Germline	Chr2:166048886	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA285060	rs_121918753	3 SubmittersRCV000059461 RCV001390614 RCV002381374
NM_001165963.4(SCN1A):c.1162T>C (p.Tyr388His)	SNV Germline	Chr2:166047635	Pathogenic	Generalized epilepsy with febrile seizures plus, type 1 Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA266098	rs_121918781	3 SubmittersRCV000059462 RCV000518904 RCV001854243
NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe)	SNV Germline	Chr2:166046931	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA248047	rs_121918768	4 SubmittersRCV000059463 RCV000180562 RCV002514306
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)	SNV Germline	Chr2:166045080	Conflicting classifications of pathogenicity	Autism not specified Early infantile epileptic encephalopathy with suppression bursts Epilepsy Severe myoclonic epilepsy in infancy Childhood epilepsy with centrotemporal spikes Severe myoclonic epilepsy in infancy Intellectual disability Condition: not provided Inborn genetic diseases SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA234872	rs_121918817	16 SubmittersRCV000059464 RCV000118239 RCV000475058 RCV000578859 RCV000655983 RCV000789040 RCV001252611 RCV001705717 RCV002316218 RCV004537265
NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys)	SNV Germline	Chr2:166041277	Likely pathogenic	Generalized epilepsy with febrile seizures plus, type 1 Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA266101	rs_121918782	3 SubmittersRCV000059466 RCV002514307 RCV003992173
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)	SNV Germline	Chr2:166039427	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285069	rs_121918785	6 SubmittersRCV000059469 RCV000591357 RCV000798343
NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr)	SNV Germline	Chr2:166058681	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA285081	rs_121918734	4 SubmittersRCV000059474 RCV000819332 RCV003157390
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)	SNV Germline	Chr2:166037931	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273369	rs_121918788	7 SubmittersRCV000059475 RCV000188897 RCV000636409 RCV004542733
NM_001165963.4(SCN1A):c.2831T>C (p.Val944Ala)	SNV Germline	Chr2:166037891	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA285093	rs_121917969	2 SubmittersRCV000059479 RCV000636356
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 epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA269785	rs_121918775	10 SubmittersRCV000059481 RCV000118240 RCV000189085 RCV000636276
NM_001165963.4(SCN1A):c.2860G>A (p.Glu954Lys)	SNV Germline	Chr2:166037862	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA285102	rs_121918786	2 SubmittersRCV000059483 RCV001054726
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg)	SNV Germline	Chr2:166037847	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285105	rs_121918796	4 SubmittersRCV000059484 RCV001387943
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val)	SNV Germline	Chr2:166037844	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA285108	rs_121918750	3 SubmittersRCV000059485 RCV000817420 RCV002247464
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 epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285126	rs_121918745	3 SubmittersRCV000059492 RCV000433130 RCV001854244
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)	SNV Germline	Chr2:166015636	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 3 not specified Epilepsy Bilateral tonic-clonic seizure Generalized non-motor (absence) seizure Seizure Childhood epilepsy with centrotemporal spikes Condition: not provided Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA221580	rs_121918799	15 SubmittersRCV000059493 RCV000188915 RCV000296106 RCV000415355 RCV000655982 RCV000723551 RCV000986890 RCV001082811 RCV001129578 RCV002313744 RCV004537267
NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro)	SNV Germline	Chr2:166012128	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285150	rs_121918740	3 SubmittersRCV000059502 RCV001385513
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 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA266111	rs_121918801	4 SubmittersRCV000059503 RCV000188936 RCV001786331 RCV001220193
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 Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Severe myoclonic epilepsy in infancy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA266114	rs_121918805	6 SubmittersRCV000059506 RCV001381481 RCV001719807 RCV003989315 RCV004668767
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu)	SNV Germline	Chr2:165999763	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285162	rs_121918741	4 SubmittersRCV000059509 RCV000521069 RCV001067468
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 epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285165	rs_121918789	4 SubmittersRCV000059510 RCV001091662 RCV001253411 RCV001854245
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 epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA285177	rs_121918764	3 SubmittersRCV000059514 RCV000517134 RCV001296129
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 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA219777	rs_121918807	9 SubmittersRCV000059515 RCV000986874 RCV001513378 RCV004955268
NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu)	SNV Germline	Chr2:165994241	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285180	rs_121918742	3 SubmittersRCV000059516 RCV003588571
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)	SNV Germline	Chr2:165994164	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy 11 conditions Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA285183	rs_121918808	5 SubmittersRCV000059517 RCV000735365 RCV002054913 RCV002336219
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys)	SNV Germline	Chr2:165992333	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285189	rs_121918791	5 SubmittersRCV000059520 RCV003233101 RCV003588572
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 epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA266117	rs_121918811	5 SubmittersRCV000059522 RCV001171717 RCV001711166 RCV003992175 RCV003588573
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met)	SNV Germline	Chr2:165992302	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285192	rs_121917922	4 SubmittersRCV000059523 RCV000529623
NM_001165963.4(SCN1A):c.5054C>T (p.Ala1685Val)	SNV Germline	Chr2:165992221	Pathogenic	Generalized epilepsy with febrile seizures plus, type 1 Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA266120	rs_121918744	3 SubmittersRCV000059528 RCV001854246 RCV003992176
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)	SNV Germline	Chr2:165992200	Likely pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285207	rs_121918778	3 SubmittersRCV000059529 RCV002514308
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)	SNV Germline	Chr2:165992194	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts not specified SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA285210	rs_121918777	4 SubmittersRCV000059530 RCV000465483 RCV000501085 RCV004734623
NM_001165963.4(SCN1A):c.523G>A (p.Ala175Thr)	SNV Germline	Chr2:166054717	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA285225	rs_121918767	2 SubmittersRCV000059536 RCV001062878
NM_001165963.4(SCN1A):c.530G>A (p.Gly177Glu)	SNV Germline	Chr2:166054710	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter	CA285231	rs_121918770	3 SubmittersRCV000059538 RCV001246264
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 Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA266126	rs_121918813	4 SubmittersRCV000059540 RCV000489760 RCV000792317 RCV000764284
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 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA266129	rs_121918783	5 SubmittersRCV000059544 RCV000180879 RCV001854247
NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg)	SNV Germline	Chr2:166054672	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285246	rs_121918773	4 SubmittersRCV000059548 RCV001854248
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 epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA285249	rs_121918793	5 SubmittersRCV000059549 RCV000494436 RCV000705871
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)	SNV Germline	Chr2:165991405	Conflicting classifications of pathogenicity	West syndrome Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA213190	rs_121918802	9 SubmittersRCV000059551 RCV000416094 RCV000537890 RCV000764283 RCV002247465 RCV004019071
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 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA285264	rs_121918771	5 SubmittersRCV000059555 RCV000997286 RCV001129824 RCV001129823 RCV001393043
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 Early infantile epileptic encephalopathy with suppression bursts SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA357173	rs_139300715	5 SubmittersRCV000209885 RCV000494091 RCV000702992 RCV004528267
NM_172107.4(KCNQ2):c.1381C>T (p.Gln461Ter)	SNV Germline	Chr20:63415047	Pathogenic	Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter		rs_267606051	1 SubmittersRCV002876411
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=)	SNV Germline	Chr2:166047666	Conflicting classifications of pathogenicity	Epilepsy Migraine, familial hemiplegic, 3 not specified Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA302682	rs_114137271	10 SubmittersRCV000286506 RCV000341456 RCV000173037 RCV001080015 RCV000470130 RCV001129821 RCV002313758
NM_001165963.4(SCN1A):c.135C>T (p.Asp45=)	SNV Germline	Chr2:166073487	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts not specified	Criteria Provided Conflicting Classifications	CA221559	rs_201985242	4 SubmittersRCV000079556 RCV001395407 RCV004586542
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 epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA266829	rs_398123585	7 SubmittersRCV000174048 RCV000255527 RCV000515441 RCV000557283
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)	SNV Germline	Chr2:166039436	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Autosomal dominant epilepsy Generalized epilepsy with febrile seizures plus, type 2 Seizure Severe myoclonic epilepsy in infancy SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA266833	rs_398123588	8 SubmittersRCV000255810 RCV000546041 RCV000781835 RCV002247477 RCV002274894 RCV003992180 RCV004537326
NM_001165963.4(SCN1A):c.2716G>A (p.Val906Met)	SNV Germline	Chr2:166038006	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA221572	rs_185760342	3 SubmittersRCV000188894 RCV000686144
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)	SNV Germline	Chr2:166012212	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA285448	rs_398123591	6 SubmittersRCV000079577 RCV000701047 RCV002345392 RCV003155068
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro)	SNV Germline	Chr2:166012171	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA221583	rs_398123592	3 SubmittersRCV000079579 RCV003753084
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)	SNV Germline	Chr2:166002537	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA266841	rs_398123593	6 SubmittersRCV000079581 RCV000636415 RCV001509554 RCV002316233
NM_001165963.4(SCN1A):c.4446C>T (p.Ile1482=)	SNV Germline	Chr2:165998068	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA221591	rs_398123596	2 SubmittersRCV000079584 RCV001463415
NM_001165963.4(SCN1A):c.4584C>A (p.Asn1528Lys)	SNV Germline	Chr2:165994414	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA221595	rs_398123597	3 SubmittersRCV000723573 RCV001854405
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)	SNV Germline	Chr2:165994267	Conflicting classifications of pathogenicity	not specified Epilepsy Migraine, familial hemiplegic, 3 Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA221603	rs_145296488	10 SubmittersRCV000186657 RCV000262326 RCV000301218 RCV000528820 RCV001129477 RCV001311212 RCV002316234
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 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA221611	rs_146733308	8 SubmittersRCV000723619 RCV000764282 RCV001080157 RCV002313760 RCV004542757
NM_001165963.4(SCN1A):c.597A>G (p.Thr199=)	SNV Germline	Chr2:166054643	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA221615	rs_398123600	3 SubmittersRCV000079594 RCV001434038
NM_001165963.4(SCN1A):c.694+10A>G	SNV Germline	Chr2:166052842	Conflicting classifications of pathogenicity	not specified Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA221619	rs_373417440	6 SubmittersRCV000188813 RCV000723543 RCV001082385
NM_001165963.4(SCN1A):c.83G>A (p.Arg28His)	SNV Germline	Chr2:166073539	Conflicting classifications of pathogenicity	Condition: not provided Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Early infantile epileptic encephalopathy with suppression bursts SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA221620	rs_398123601	5 SubmittersRCV000079597 RCV001133438 RCV001133439 RCV001854406 RCV004545745
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu)	SNV Germline	Chr9:127672091	Conflicting classifications of pathogenicity	Condition: not provided West syndrome Developmental and epileptic encephalopathy, 4 Cerebellar vermis hypoplasia Congenital cerebellar hypoplasia STXBP1-related neurodevelopmental disorder Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA221967	rs_398123695	5 SubmittersRCV000080077 RCV000779645 RCV001258011 RCV001795096 RCV002514407
NM_139318.5(KCNH5):c.980G>A (p.Arg327His)	SNV Germline	Chr14:62950522	Pathogenic	Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy 112 Condition: not provided Inborn genetic diseases Developmental and epileptic encephalopathy, 12	Criteria Provided Multiple Submitters No Conflicts	CA228965	rs_587777164	6 SubmittersRCV000701370 RCV003448263 RCV000087147 RCV003162518 RCV003334350
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)	SNV Germline	Chr20:63442428	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 7 Condition: not provided KCNQ2-related disorder Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Intellectual disability Seizures, benign familial neonatal, 1 Developmental and epileptic encephalopathy, 7 Seizure	Criteria Provided Multiple Submitters No Conflicts	CA150769	rs_587777219	14 SubmittersRCV000106299 RCV000187868 RCV000578260 RCV001056302 RCV002316289 RCV001089803 RCV000768250 RCV004546432
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)	SNV Germline/somatic	Chr9:127668132	Pathogenic	Developmental and epileptic encephalopathy, 4 Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA151362	rs_587777310	6 SubmittersRCV000114939 RCV000440506 RCV000525775
NM_172107.4(KCNQ2):c.2316G>A (p.Pro772=)	SNV Germline	Chr20:63406947	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA231195	rs_587780367	3 SubmittersRCV000117338 RCV001406364
NM_172107.4(KCNQ2):c.795G>A (p.Ala265=)	SNV Germline	Chr20:63442427	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases KCNQ2-related disorder	Criteria Provided Conflicting Classifications	CA231199	rs_148654588	5 SubmittersRCV000117339 RCV001088466 RCV002415601 RCV004542842
NM_172107.4(KCNQ2):c.1800G>A (p.Thr600=)	SNV Germline	Chr20:63408500	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA231201	rs_587780368	2 SubmittersRCV000117343 RCV002055279
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=)	SNV Germline	Chr2:165992388	Conflicting classifications of pathogenicity	Condition: not provided not specified Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA231472	rs_587780445	8 SubmittersRCV000118237 RCV000247803 RCV001505725 RCV002336256
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys)	SNV Germline	Chr12:51769039	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Developmental and epileptic encephalopathy, 13 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA289034	rs_117217073	11 SubmittersRCV000118280 RCV000226089 RCV000992912 RCV001089736 RCV002312498
NM_001330260.2(SCN8A):c.3158T>G (p.Ile1053Ser)	SNV Germline	Chr12:51769121	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA231493	rs_587780453	2 SubmittersRCV000118281 RCV000820334
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr)	SNV Germline	Chr12:51794594	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA231495	rs_201458257	9 SubmittersRCV000118284 RCV000239732 RCV001086391 RCV002313921
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	SNV Germline	Chr12:51807116	Pathogenic/Likely pathogenic	Condition: not provided Seizures, benign familial infantile, 5 Developmental and epileptic encephalopathy, 13 Focal epilepsy Early infantile epileptic encephalopathy with suppression bursts Seizure Complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA289040	rs_587780455	15 SubmittersRCV000118288 RCV000239702 RCV000239630 RCV000416967 RCV000467598 RCV002274920 RCV003992186
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln)	SNV Germline	Chr1:43930172	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 15 Intellectual disability, autosomal recessive 12 Early infantile epileptic encephalopathy with suppression bursts ST3GAL3-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA231532	rs_553120567	6 SubmittersRCV000118417 RCV000768326 RCV001088458 RCV003975045 RCV002415604
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)	SNV Germline	Chr12:51765675	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 13 Condition: not provided Inborn genetic diseases Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia Developmental and epileptic encephalopathy, 13 Seizures, benign familial infantile, 5 Cognitive impairment with or without cerebellar ataxia West syndrome Complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA163107		17 SubmittersRCV000122729 RCV000189267 RCV000624041 RCV000803456 RCV001249685 RCV003224864 RCV003488395 RCV003992189
NM_172107.4(KCNQ2):c.1301+7C>T	SNV Germline	Chr20:63419612	Conflicting classifications of pathogenicity	not specified Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA291792	rs_374877247	4 SubmittersRCV000126457 RCV000726412 RCV001086609
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=)	SNV Germline	Chr20:63408473	Conflicting classifications of pathogenicity	not specified Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA291806	rs_369438374	5 SubmittersRCV000126467 RCV000513235 RCV001085339 RCV002408631
NM_001165963.4(SCN1A):c.333A>G (p.Leu111=)	SNV Germline	Chr2:166058620	Conflicting classifications of pathogenicity	not specified Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Epilepsy	Criteria Provided Conflicting Classifications	CA293157	rs_201592683	4 SubmittersRCV000127871 RCV000313741 RCV001133437 RCV001452799 RCV003430696 RCV000390078
NM_001165963.4(SCN1A):c.1378-3T>C	SNV Germline	Chr2:166045330	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Inborn genetic diseases SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA293161	rs_150964803	10 SubmittersRCV000127874 RCV000469921 RCV001134809 RCV001134810 RCV001529594 RCV002316401 RCV004544285
NM_001165963.4(SCN1A):c.2292T>A (p.Val764=)	SNV Germline	Chr2:166041354	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA293166	rs_6432860	2 SubmittersRCV000127878 RCV001849911
NM_001165963.4(SCN1A):c.3498G>A (p.Gln1166=)	SNV Germline	Chr2:166015659	Conflicting classifications of pathogenicity	not specified Migraine, familial hemiplegic, 3 Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA293171	rs_145410000	3 SubmittersRCV000127881 RCV001129580 RCV002055788 RCV001129581
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=)	SNV Germline	Chr2:165996037	Conflicting classifications of pathogenicity	not specified Generalized epilepsy with febrile seizures plus, type 2 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases SCN1A-related disorder Condition: not provided Migraine, familial hemiplegic, 3	Criteria Provided Conflicting Classifications	CA293192	rs_368785509	7 SubmittersRCV000127890 RCV001132197 RCV001436209 RCV002312926 RCV004544287 RCV000636510 RCV001132198
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=)	SNV Germline	Chr2:165992403	Conflicting classifications of pathogenicity	not specified Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA232571	rs_142910512	6 SubmittersRCV000186658 RCV000723902 RCV001129475 RCV001129476 RCV001084098 RCV002312927
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=)	SNV Germline	Chr11:794790	Conflicting classifications of pathogenicity	not specified Early myoclonic encephalopathy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases SLC25A22-related disorder	Criteria Provided Conflicting Classifications	CA293510	rs_146402942	11 SubmittersRCV000128075 RCV000366300 RCV000725655 RCV001083324 RCV002316410 RCV003915273
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)	SNV Germline	Chr11:794509	Conflicting classifications of pathogenicity	Early myoclonic encephalopathy not specified Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Inborn genetic diseases SLC25A22-related disorder	Criteria Provided Conflicting Classifications	CA173468	rs_116134953	9 SubmittersRCV000147503 RCV000178365 RCV000472638 RCV001507783 RCV002316411 RCV003915274
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=)	SNV Germline	Chr11:792955	Conflicting classifications of pathogenicity	not specified Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA293515	rs_141975755	5 SubmittersRCV000128079 RCV000725933 RCV001085403 RCV002312935
NM_001191061.2(SLC25A22):c.413-12C>T	SNV Germline	Chr11:792739	Conflicting classifications of pathogenicity	not specified Early myoclonic encephalopathy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA293518	rs_587781169	3 SubmittersRCV000128080 RCV000300300 RCV002055805
NM_001191061.2(SLC25A22):c.413-8G>C	SNV Germline	Chr11:792735	Conflicting classifications of pathogenicity	not specified Early myoclonic encephalopathy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA173479	rs_376015598	6 SubmittersRCV000128081 RCV000147509 RCV000725287 RCV001086628
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=)	SNV Germline	Chr11:792645	Conflicting classifications of pathogenicity	not specified Condition: not provided Early myoclonic encephalopathy Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA293519	rs_374780430	9 SubmittersRCV000128083 RCV000713312 RCV001110855 RCV001083301 RCV002316412
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=)	SNV Germline	Chr11:792570	Conflicting classifications of pathogenicity	not specified Early myoclonic encephalopathy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 3 Inborn genetic diseases SLC25A22-related disorder	Criteria Provided Conflicting Classifications	CA232575	rs_145322467	11 SubmittersRCV000186659 RCV000287522 RCV000713313 RCV001083398 RCV001803010 RCV002312936 RCV003925269
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)	SNV Germline	Chr11:792555	Conflicting classifications of pathogenicity	not specified Early myoclonic encephalopathy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases SLC25A22-related disorder	Criteria Provided Conflicting Classifications	CA232578	rs_147840220	10 SubmittersRCV000186660 RCV000381855 RCV000713314 RCV001086464 RCV002354321 RCV003915275
NM_001191061.2(SLC25A22):c.743-12C>T	SNV Germline	Chr11:792229	Conflicting classifications of pathogenicity	not specified Early myoclonic encephalopathy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA293526	rs_200517971	3 SubmittersRCV000128089 RCV001114123 RCV002055807
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)	SNV Germline	Chr11:792011	Conflicting classifications of pathogenicity	not specified Early myoclonic encephalopathy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Developmental and epileptic encephalopathy, 3 SLC25A22-related disorder	Criteria Provided Conflicting Classifications	CA295159	rs_146300431	11 SubmittersRCV000147514 RCV000301063 RCV000725476 RCV001084573 RCV002316413 RCV003224164 RCV003952677
NM_001130438.3(SPTAN1):c.2011+10G>A	SNV Germline	Chr9:128583291	Conflicting classifications of pathogenicity	not specified Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5	Criteria Provided Conflicting Classifications	CA232582	rs_377437879	4 SubmittersRCV000186665 RCV000724563 RCV001079430 RCV001808359
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=)	SNV Germline	Chr9:128585797	Conflicting classifications of pathogenicity	not specified Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA293719	rs_138101005	6 SubmittersRCV000128239 RCV000416227 RCV001084036 RCV001808362 RCV002316418
NM_001130438.3(SPTAN1):c.5478+12G>A	SNV Germline	Chr9:128617772	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 5 Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Conflicting Classifications	CA173580	rs_41275900	5 SubmittersRCV000128261 RCV000147638 RCV002055826 RCV003430700
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=)	SNV Germline	Chr9:128625933	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Bilateral tonic-clonic seizure Developmental and epileptic encephalopathy, 5 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA303013	rs_147132904	8 SubmittersRCV000178648 RCV000560348 RCV000678850 RCV001808385 RCV002312946 RCV003430702
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=)	SNV Germline	Chr9:128626609	Conflicting classifications of pathogenicity	not specified Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA173591	rs_72758823	10 SubmittersRCV000128270 RCV000726217 RCV001083179 RCV001808386 RCV002312947
NM_001130438.3(SPTAN1):c.7161-9C>T	SNV Germline	Chr9:128632799	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 5 Condition: not provided Early infantile epileptic encephalopathy with suppression bursts SPTAN1-related disorder	Criteria Provided Conflicting Classifications	CA173599	rs_187613754	8 SubmittersRCV000128277 RCV000147658 RCV000725332 RCV001086915 RCV004551233
NM_001130438.3(SPTAN1):c.7161-8G>A	SNV Germline	Chr9:128632800	Conflicting classifications of pathogenicity	not specified Condition: not provided Developmental and epileptic encephalopathy, 5 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA293760	rs_202180736	5 SubmittersRCV000128278 RCV000727497 RCV001808392 RCV001084816
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=)	SNV Germline	Chr9:127682538	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 4 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA173634	rs_201809337	5 SubmittersRCV000128322 RCV000147702 RCV000863608 RCV002316426 RCV004597748
NM_001032221.6(STXBP1):c.1702+10C>T	SNV Germline	Chr9:127682570	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA293799	rs_147607230	7 SubmittersRCV000128323 RCV000230027 RCV000616011 RCV003430704
NM_021072.4(HCN1):c.299C>T (p.Ser100Phe)	SNV Germline	Chr5:45695795	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 24 Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 10	Criteria Provided Multiple Submitters No Conflicts	CA163272	rs_587777492	3 SubmittersRCV000128459 RCV001054783 RCV003448268
NM_021072.4(HCN1):c.835C>T (p.His279Tyr)	SNV Germline	Chr5:45645199	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 24 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA163275	rs_587777495	3 SubmittersRCV000128462 RCV003588579
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)	SNV Germline	Chr12:51806336	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts developmental delay with seizures Developmental and epileptic encephalopathy, 13 Inborn genetic diseases Complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA170757	rs_587777721	8 SubmittersRCV000522954 RCV000636307 RCV000678845 RCV000144154 RCV001266283 RCV003992195
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)	SNV Germline	Chr9:127666236	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 4 Early infantile epileptic encephalopathy with suppression bursts Infantile epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA173637	rs_587784453	4 SubmittersRCV000147705 RCV000636306 RCV001265418
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=)	SNV Germline	Chr9:128580987	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 5 Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Conflicting Classifications	CA173537	rs_587784431	4 SubmittersRCV000147606 RCV000862828 RCV003430711
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln)	SNV Germline	Chr9:128582740	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 5 Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Conflicting Classifications	CA173544	rs_370304886	5 SubmittersRCV000147610 RCV001365805 RCV001588995
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)	SNV Germline	Chr9:128588826	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 5 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA173556	rs_34654141	7 SubmittersRCV000724445 RCV000147620 RCV001080124 RCV002433635
NM_001130438.3(SPTAN1):c.3415-9G>T	SNV Germline	Chr9:128598391	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 5 Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA173560	rs_199802986	4 SubmittersRCV000147624 RCV001704071 RCV000459404
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)	SNV Germline	Chr9:128607904	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 5 Condition: not provided Inborn genetic diseases SPTAN1-related disorder Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA173568	rs_143108250	8 SubmittersRCV000147630 RCV000713513 RCV002316952 RCV004551283 RCV001085811
NM_001130438.3(SPTAN1):c.5149-10C>T	SNV Germline	Chr9:128615622	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 5 not specified Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA173575	rs_587784437	4 SubmittersRCV000147634 RCV000189467 RCV002055933
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=)	SNV Germline	Chr9:128626609	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Condition: not provided Developmental and epileptic encephalopathy, 5 SPTAN1-related disorder	Criteria Provided Conflicting Classifications	CA173589	rs_72758823	8 SubmittersRCV000420949 RCV001088259 RCV002312981 RCV000713521 RCV000147646 RCV004737228
NM_001130438.3(SPTAN1):c.6763-7C>T	SNV Germline	Chr9:128632120	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 5 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA173596	rs_587784439	2 SubmittersRCV000147654 RCV002514842
NM_001130438.3(SPTAN1):c.7309-15T>C	SNV Germline	Chr9:128633194	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 5 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA173600	rs_370705867	4 SubmittersRCV001668298 RCV000147659 RCV002055934
NM_001191061.2(SLC25A22):c.897C>T (p.Phe299=)	SNV Germline	Chr11:791990	Conflicting classifications of pathogenicity	Early myoclonic encephalopathy Early infantile epileptic encephalopathy with suppression bursts Condition: not provided SLC25A22-related disorder	Criteria Provided Conflicting Classifications	CA173489	rs_7124179	5 SubmittersRCV000147515 RCV000863215 RCV001527880 RCV003905273
NM_001191061.2(SLC25A22):c.474C>T (p.Pro158=)	SNV Germline	Chr11:792666	Conflicting classifications of pathogenicity	Early myoclonic encephalopathy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA173483	rs_556959164	2 SubmittersRCV000147511 RCV002055931
NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys)	SNV Germline	Chr2:166036493	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA234856	rs_727504138	4 SubmittersRCV000153892 RCV002516100 RCV004760399
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)	SNV Germline	Chr2:166012255	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA273365	rs_727504136	8 SubmittersRCV000153888 RCV000188925 RCV001040173 RCV002492580 RCV002316972
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)	SNV Germline	Chr2:166043973	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA234868	rs_544692790	6 SubmittersRCV000471353 RCV000515440 RCV000710209 RCV002408682 RCV004998305
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)	SNV Germline	Chr20:63439704	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 7 Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial neonatal, 1 Complex neurodevelopmental disorder West syndrome	Criteria Provided Multiple Submitters No Conflicts	CA278569	rs_727503974	16 SubmittersRCV000153394 RCV000203603 RCV000636323 RCV002281562 RCV003315308 RCV003488401
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=)	SNV Germline	Chr20:63408458	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA234146	rs_552807375	4 SubmittersRCV000585559 RCV001087876 RCV002312679
NM_001165963.4(SCN1A):c.2590-2A>G	SNV Germline	Chr2:166038134	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA273372	rs_727504140	2 SubmittersRCV000153895 RCV001382716
NM_001165963.4(SCN1A):c.1818T>C (p.Asp606=)	SNV Germline	Chr2:166043894	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA234864	rs_727504141	2 SubmittersRCV000153899 RCV000636569
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 epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA234876	rs_727504142	3 SubmittersRCV000153902 RCV000180927 RCV001362206
NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=)	SNV Germline	Chr12:51769023	Conflicting classifications of pathogenicity	not specified Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA234891	rs_528718802	3 SubmittersRCV000153911 RCV000723923 RCV002056044
NM_001032221.6(STXBP1):c.1029+1G>T	SNV Germline	Chr9:127672117	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA234988	rs_727504173	3 SubmittersRCV000595386 RCV001726006 RCV002514965
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 Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3	Criteria Provided Multiple Submitters No Conflicts	CA303237	rs_794726739	7 SubmittersRCV000180848 RCV000189004 RCV000995637 RCV000805798 RCV002505227 RCV002281566
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)	SNV Germline	Chr2:165991619	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303286	rs_779614747	5 SubmittersRCV000189014 RCV000180864 RCV000692766
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr)	SNV Germline	Chr2:165992053	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303327	rs_794726763	3 SubmittersRCV000180878 RCV000188996 RCV002516537
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe)	SNV Germline	Chr2:165992278	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303314	rs_794726760	3 SubmittersRCV000180874 RCV002515208
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 epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303310	rs_794726759	7 SubmittersRCV000180873 RCV001090360 RCV001580464 RCV001813764 RCV001850418
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)	SNV Germline	Chr2:165992369	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B	Criteria Provided Multiple Submitters No Conflicts	CA303158	rs_199727342	7 SubmittersRCV000180823 RCV000188982 RCV000804066 RCV003128152
NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter)	SNV Germline	Chr2:165994187	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303425	rs_794726800	2 SubmittersRCV000180918 RCV002515211
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)	SNV Germline	Chr2:165996021	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Migraine, familial hemiplegic, 3	Criteria Provided Multiple Submitters No Conflicts	CA303282	rs_794726752	7 SubmittersRCV000180863 RCV000188962 RCV001382664 RCV002221506
NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe)	SNV Germline	Chr2:165998102	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303462	rs_794726809	3 SubmittersRCV000180931 RCV002516539
NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr)	SNV Germline	Chr2:165998163	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303087	rs_794726696	2 SubmittersRCV000180797 RCV002517630
NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg)	SNV Germline	Chr2:166002670	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303364	rs_794726779	2 SubmittersRCV000180895 RCV002515210
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro)	SNV Germline	Chr2:166002701	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA303491	rs_794726821	3 SubmittersRCV000180946 RCV001219498 RCV002272155
NM_001165963.4(SCN1A):c.3880-2A>G	SNV Germline	Chr2:166009843	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303483	rs_794726816	2 SubmittersRCV000180941 RCV000707470
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 epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303258	rs_794726744	3 SubmittersRCV000180854 RCV001727612 RCV001385514
NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln)	SNV Germline	Chr2:166013788	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303606	rs_794726854	2 SubmittersRCV000180987 RCV001035456
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)	SNV Germline	Chr2:166013812	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Seizure Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Migraine, familial hemiplegic, 3	Criteria Provided Multiple Submitters No Conflicts	CA303131	rs_794726710	10 SubmittersRCV000189082 RCV000180814 RCV000585684 RCV000808766 RCV002453572 RCV002281564
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter)	SNV Germline	Chr2:166036371	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303458	rs_542420576	3 SubmittersRCV000180930 RCV000636324 RCV003441770
NM_001165963.4(SCN1A):c.2946+1G>T	SNV Germline	Chr2:166037775	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303354	rs_794726772	3 SubmittersRCV000180888 RCV000188902 RCV001850419
NM_001165963.4(SCN1A):c.2936G>A (p.Gly979Glu)	SNV Germline	Chr2:166037786	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303559	rs_794726842	2 SubmittersRCV000180972 RCV002515213
NM_001165963.4(SCN1A):c.2792G>C (p.Arg931Pro)	SNV Germline	Chr2:166037930	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303413	rs_794726718	2 SubmittersRCV000180915 RCV001376917
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His)	SNV Germline	Chr2:166037930	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Migraine, familial hemiplegic, 3	Reviewed By Expert Panel	CA303154	rs_794726718	7 SubmittersRCV000180822 RCV000412755 RCV000457088 RCV000763459 RCV002281565
NM_001165963.4(SCN1A):c.2690T>C (p.Leu897Ser)	SNV Germline	Chr2:166038032	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303322	rs_794726761	2 SubmittersRCV000180876 RCV002515209
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)	SNV Germline	Chr2:166038129	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Seizure SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA303091	rs_794726697	8 SubmittersRCV000180798 RCV000423112 RCV000530080 RCV001786337 RCV004725018
NM_001165963.4(SCN1A):c.2589+3A>T	SNV Germline	Chr2:166039420	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy 6B	Criteria Provided Multiple Submitters No Conflicts	CA303357	rs_794726775	14 SubmittersRCV000180891 RCV000188876 RCV000554065 RCV003224181
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter)	SNV Germline	Chr2:166039428	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA275003	rs_397514459	7 SubmittersRCV000174713 RCV000174714 RCV001850416
NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val)	SNV Germline	Chr2:166041293	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303300	rs_767045134	3 SubmittersRCV000180869 RCV001071061
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu)	SNV Germline	Chr2:166041343	Likely pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Reviewed By Expert Panel	CA303333	rs_794726766	5 SubmittersRCV000180882 RCV001344647 RCV003482238
NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter)	SNV Germline	Chr2:166041433	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303442	rs_794726742	3 SubmittersRCV000180923 RCV000578911 RCV002515212
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)	SNV Germline	Chr2:166042334	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy, 1 Autosomal dominant epilepsy Inborn genetic diseases SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274966	rs_794726730	16 SubmittersRCV000174291 RCV000188886 RCV000534243 RCV001004670 RCV001527645 RCV001824659 RCV002515207 RCV004535158
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter)	SNV Germline	Chr2:166043878	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303360	rs_794726778	4 SubmittersRCV000180894 RCV000699982
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)	SNV Germline	Chr2:166043974	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA303224	rs_794726736	7 SubmittersRCV000180844 RCV000254957 RCV000544887 RCV004528926
NM_001165963.4(SCN1A):c.1662+3A>G	SNV Germline	Chr2:166045040	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303355	rs_794726773	2 SubmittersRCV000180889 RCV001850420
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)	SNV Germline	Chr2:166045081	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA303104		7 SubmittersRCV000180802 RCV000188870 RCV000636424 RCV001004730 RCV002313015
NM_001165963.4(SCN1A):c.1516C>T (p.Gln506Ter)	SNV Germline	Chr2:166045189	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303393	rs_794726790	3 SubmittersRCV000180906 RCV001850421 RCV004696866
NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val)	SNV Germline	Chr2:166046888	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA303506	rs_794726826	2 SubmittersRCV000180952 RCV001850422
NM_001165963.4(SCN1A):c.1146C>A (p.Asp382Glu)	SNV Germline	Chr2:166047651	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303290	rs_794726753	2 SubmittersRCV000180865 RCV001850417
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)	SNV Germline	Chr2:166047668	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Seizure	Criteria Provided Multiple Submitters No Conflicts	CA303421	rs_794726799	9 SubmittersRCV000180917 RCV000423099 RCV000529401 RCV002274946
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser)	SNV Germline	Chr2:166047721	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA303143	rs_794726713	6 SubmittersRCV000180817 RCV000329798 RCV001377988 RCV004965289
NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys)	SNV Germline	Chr2:166047751	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303567	rs_794726844	2 SubmittersRCV000180974 RCV003588585
NM_001165963.4(SCN1A):c.1033T>C (p.Cys345Arg)	SNV Germline	Chr2:166047764	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303376	rs_794726782	2 SubmittersRCV000180898 RCV002516538
NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr)	SNV Germline	Chr2:166048907	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303417	rs_794726798	3 SubmittersRCV000180916 RCV003588584
NM_001165963.4(SCN1A):c.965-1G>A	SNV Germline	Chr2:166048950	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA303503	rs_794726824	5 SubmittersRCV000180949 RCV000188853 RCV000551280 RCV002381539
NM_001165963.4(SCN1A):c.602+1G>T	SNV Germline	Chr2:166054637	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303510	rs_794726827	2 SubmittersRCV000180953 RCV001850423
NM_001165963.4(SCN1A):c.383+1A>G	SNV Germline	Chr2:166058569	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA303437	rs_794726803	3 SubmittersRCV000180921 RCV000824285 RCV002316980
NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr)	SNV Germline	Chr2:166058616	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303135	rs_794726711	3 SubmittersRCV000188831 RCV000180815 RCV000636365
NM_001165963.4(SCN1A):c.264+5G>C	SNV Germline	Chr2:166073353	Pathogenic	Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA303326	rs_794726762	2 SubmittersRCV000180877 RCV001212061
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)	SNV Germline/somatic	Chr9:127668159	Pathogenic/Likely pathogenic	Condition: not provided Early onset epileptic encephalopathy not specified Developmental and epileptic encephalopathy, 4 Early infantile epileptic encephalopathy with suppression bursts Infantile epilepsy syndrome Inborn genetic diseases Spastic ataxia West syndrome	Criteria Provided Multiple Submitters No Conflicts	CA302345	rs_786205598	14 SubmittersRCV000171427 RCV000509312 RCV000502114 RCV000515202 RCV000700520 RCV001265420 RCV001266353 RCV001640264 RCV003488419
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser)	SNV Germline	Chr12:51789350	Pathogenic	Developmental and epileptic encephalopathy, 13 not specified Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Complex neurodevelopmental disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278916	rs_863223345	9 SubmittersRCV000172910 RCV000517164 RCV001380064 RCV002516572 RCV003992212 RCV003320591
NM_021072.4(HCN1):c.336C>A (p.Arg112=)	SNV Germline	Chr5:45695758	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA238964	rs_794726951	4 SubmittersRCV000173512 RCV000636559 RCV002312705
NM_001191061.2(SLC25A22):c.834C>T (p.His278=)	SNV Germline	Chr11:792053	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA239365	rs_187824231	5 SubmittersRCV000173900 RCV001446505 RCV002316998
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln)	SNV Germline	Chr2:166043823	Conflicting classifications of pathogenicity	Epilepsy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA239508	rs_145670933	5 SubmittersRCV000303863 RCV000358377 RCV001132418 RCV000724592 RCV001244014
NM_001165963.4(SCN1A):c.1703G>A (p.Arg568Gln)	SNV Germline	Chr2:166044009	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA239513	rs_794727025	3 SubmittersRCV000174047 RCV000636428
NM_006279.5(ST3GAL3):c.892-10C>T	SNV Germline	Chr1:43920772	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA239588	rs_545265264	2 SubmittersRCV000174115 RCV002516615
NM_001330260.2(SCN8A):c.1677C>T (p.His559=)	SNV Germline	Chr12:51721587	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA239891	rs_202212399	4 SubmittersRCV001089206 RCV002399625 RCV000723995
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr)	SNV Germline	Chr12:51721729	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Early infantile epileptic encephalopathy with suppression bursts SCN8A-related disorder	Criteria Provided Conflicting Classifications	CA239893	rs_367949317	8 SubmittersRCV000724469 RCV002317003 RCV001083161 RCV004537365
NM_172107.4(KCNQ2):c.1301+8G>T	SNV Germline	Chr20:63419611	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA239972	rs_532111320	2 SubmittersRCV000174423 RCV000556600
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=)	SNV Germline	Chr12:51745977	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA240121	rs_146982102	4 SubmittersRCV001403653 RCV000724787 RCV002317004
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=)	SNV Germline	Chr20:63414925	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA240167	rs_1801545	5 SubmittersRCV000724865 RCV001081329 RCV002390423
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val)	SNV Germline	Chr12:51751510	Pathogenic/Likely pathogenic	Condition: not provided SCN8A-related disorder Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA240328	rs_794727128	4 SubmittersRCV000174766 RCV000509479 RCV001044209
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met)	SNV Germline	Chr20:63414092	Conflicting classifications of pathogenicity	Condition: not provided Seizures, benign familial neonatal, 1 Developmental and epileptic encephalopathy, 7 Inborn genetic diseases Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 7 Complex neurodevelopmental disorder Seizures, benign familial neonatal, 1	Criteria Provided Conflicting Classifications	CA240402	rs_794727134	8 SubmittersRCV000724023 RCV000765493 RCV002317007 RCV001240137 RCV001527628 RCV003315309 RCV000781975
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val)	SNV Germline	Chr2:166036301	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA240690	rs_779306054	4 SubmittersRCV000724139 RCV000795103
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln)	SNV Germline	Chr2:166036417	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Conflicting Classifications	CA240694	rs_150154265	5 SubmittersRCV000462390 RCV000585632
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)	SNV Germline	Chr2:166015676	Conflicting classifications of pathogenicity	not specified Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 SCN1A-related disorder Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA240854	rs_201079458	8 SubmittersRCV000188914 RCV000515245 RCV001132318 RCV000724750 RCV001444749 RCV002336423
NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=)	SNV Germline	Chr12:51769167	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases SCN8A-related disorder	Criteria Provided Conflicting Classifications	CA240911	rs_201045619	5 SubmittersRCV000175204 RCV001086861 RCV002321691 RCV004734780
NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=)	SNV Germline	Chr20:63406905	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA240972	rs_559610397	3 SubmittersRCV000175250 RCV002444700 RCV001495685
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=)	SNV Germline	Chr2:166012256	Conflicting classifications of pathogenicity	Condition: not provided Migraine, familial hemiplegic, 3 Early infantile epileptic encephalopathy with suppression bursts SCN1A-related disorder Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA241175	rs_369688121	5 SubmittersRCV000175414 RCV001134602 RCV001458604 RCV004734781 RCV001134603
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys)	SNV Germline	Chr9:128566871	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5	Criteria Provided Conflicting Classifications	CA241408	rs_368482631	7 SubmittersRCV000724442 RCV000805848 RCV001729428
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)	SNV Germline	Chr2:166058574	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA302801	rs_148442069	8 SubmittersRCV000474474 RCV000764287 RCV000724565 RCV004734783
NM_006279.5(ST3GAL3):c.118+10G>C	SNV Germline	Chr1:43736390	Conflicting classifications of pathogenicity	not specified Condition: not provided Early infantile epileptic encephalopathy with suppression bursts ST3GAL3-related disorder	Criteria Provided Conflicting Classifications	CA205504	rs_147330005	8 SubmittersRCV000192585 RCV000724030 RCV001081005 RCV003917631
NM_001330260.2(SCN8A):c.270G>T (p.Thr90=)	SNV Germline	Chr12:51663087	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA241656	rs_371712630	3 SubmittersRCV000724363 RCV001088438
NM_001165963.4(SCN1A):c.4224G>A (p.Trp1408Ter)	SNV Germline	Chr2:166002532	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA302832	rs_794727337	2 SubmittersRCV000176175 RCV001037904
NM_001165963.4(SCN1A):c.4284+7G>A	SNV Germline	Chr2:166002465	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA242054	rs_745918943	3 SubmittersRCV000176176 RCV001392367 RCV004539631
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp)	SNV Germline	Chr9:128591603	Conflicting classifications of pathogenicity	Condition: not provided Landau-Kleffner syndrome Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242181	rs_794727356	5 SubmittersRCV000176280 RCV000678849 RCV001343594 RCV001808450 RCV003278676
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr)	SNV Germline	Chr12:51786566	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 13 Cognitive impairment with or without cerebellar ataxia Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA242212	rs_794727361	8 SubmittersRCV000176314 RCV001253356 RCV001095653 RCV001219444 RCV002321698
NM_001165963.4(SCN1A):c.5433T>C (p.Val1811=)	SNV Germline	Chr2:165991842	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA242652	rs_762310676	2 SubmittersRCV000176628 RCV001411647
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser)	SNV Germline	Chr2:165991712	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA242660	rs_794727415	4 SubmittersRCV000484175 RCV001057823
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)	SNV Germline	Chr2:165389451	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 11 Condition: not provided Epileptic encephalopathy Early infantile epileptic encephalopathy with suppression bursts West syndrome Complex neurodevelopmental disorder Seizure Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3	Criteria Provided Multiple Submitters No Conflicts	CA202100	rs_794727444	11 SubmittersRCV000176763 RCV000189181 RCV000417008 RCV001847815 RCV001265414 RCV001849328 RCV002516714
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)	SNV Germline	Chr9:128608962	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Developmental and epileptic encephalopathy, 5 SPTAN1-related disorder	Criteria Provided Conflicting Classifications	CA244765	rs_145038571	8 SubmittersRCV000713515 RCV001086665 RCV002314636 RCV001808453 RCV004552999
NM_001165963.4(SCN1A):c.602+1G>A	SNV Germline	Chr2:166054637	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 Autism Global developmental delay Seizure Generalized epilepsy with febrile seizures plus, type 2 Early infantile epileptic encephalopathy with suppression bursts Focal impaired awareness seizure Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Developmental and epileptic encephalopathy, 76 See cases	Criteria Provided Multiple Submitters No Conflicts	CA302978		17 SubmittersRCV000178154 RCV000188832 RCV000768306 RCV001003957 RCV001004746 RCV001227678 RCV001290257 RCV002281567 RCV003224195 RCV003338449 RCV004797789
NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met)	SNV Germline	Chr12:51687096	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA246132	rs_775272996	4 SubmittersRCV000178933 RCV001078929
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=)	SNV Germline	Chr20:63442448	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA246278	rs_770187706	4 SubmittersRCV000723850 RCV001088157 RCV002314652
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)	SNV Germline	Chr20:63442429	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 7 Condition: not provided Seizure Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA278513	rs_794727740	9 SubmittersRCV000179032 RCV000187875 RCV000192955 RCV000555510
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile)	SNV Germline	Chr20:63442521	Pathogenic/Likely pathogenic	Condition: not provided Seizure Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA207014	rs_794727741	4 SubmittersRCV000179033 RCV000193491 RCV001235310
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=)	SNV Germline	Chr9:128632880	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5 Inborn genetic diseases SPTAN1-related disorder	Criteria Provided Conflicting Classifications	CA246426	rs_138985089	7 SubmittersRCV000724755 RCV001082946 RCV001808457 RCV002314656 RCV004725030
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)	SNV Germline	Chr9:127661140	Pathogenic	Developmental and epileptic encephalopathy, 4 Condition: not provided 7 conditions Intellectual disability Early infantile epileptic encephalopathy with suppression bursts Infantile epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA203284	rs_794727792	9 SubmittersRCV000179420 RCV000189595 RCV000626842 RCV001260782 RCV001380262 RCV001265297
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg)	SNV Germline	Chr20:63439684	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 7 Complex neurodevelopmental disorder KCNQ2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA303047	rs_794727813	6 SubmittersRCV000179560 RCV001063168 RCV000678143 RCV003315310 RCV003985079
NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=)	SNV Germline	Chr11:792561	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Condition: not provided SLC25A22-related disorder	Criteria Provided Conflicting Classifications	CA247329	rs_141430143	5 SubmittersRCV000179976 RCV001088546 RCV002354465 RCV000724298 RCV003947534
NM_001165963.4(SCN1A):c.1194G>A (p.Thr398=)	SNV Germline	Chr2:166046953	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA248050	rs_753890879	2 SubmittersRCV000180563 RCV002515297
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)	SNV Germline	Chr9:127666206	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Early infantile epileptic encephalopathy with suppression bursts Cerebellar vermis hypoplasia Developmental and epileptic encephalopathy, 4 Congenital cerebellar hypoplasia Infantile epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA303075	rs_794727970	9 SubmittersRCV000180590 RCV000504117 RCV000796167 RCV000779652 RCV001258012 RCV001265518
NM_006279.5(ST3GAL3):c.660C>T (p.Tyr220=)	SNV Germline	Chr1:43899643	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases ST3GAL3-related disorder	Criteria Provided Conflicting Classifications	CA248148	rs_201204481	4 SubmittersRCV000180632 RCV001078771 RCV002314678 RCV004757974
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala)	SNV Germline	Chr2:165313996	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA318111	rs_796053181	3 SubmittersRCV000189207 RCV001214974 RCV001847845
NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser)	SNV Germline	Chr2:165344649	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317886	rs_796053118	3 SubmittersRCV000189120 RCV000640628 RCV001847838
NM_001040142.2(SCN2A):c.4036A>G (p.Ile1346Val)	SNV Germline	Chr2:165374748	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Early infantile epileptic encephalopathy with suppression bursts West syndrome	Criteria Provided Multiple Submitters No Conflicts	CA317957	rs_796053135	3 SubmittersRCV000189148 RCV001379123 RCV001847842
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)	SNV Germline	Chr2:165388692	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Complex neurodevelopmental disorder Inborn genetic diseases Early infantile epileptic encephalopathy with suppression bursts Epilepsy of infancy with migrating focal seizures	Criteria Provided Multiple Submitters No Conflicts	CA318018		10 SubmittersRCV000189171 RCV000536734 RCV001004719 RCV002247610 RCV001265265 RCV002514055 RCV001847843 RCV003155929
NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val)	SNV Germline	Chr2:165991298	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Conflicting Classifications	CA317690	rs_751750112	3 SubmittersRCV000189029 RCV001206735 RCV003137765
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 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317682	rs_771936735	4 SubmittersRCV000189026 RCV001334844 RCV002514050 RCV002514051
NM_001165963.4(SCN1A):c.5865A>G (p.Ile1955Met)	SNV Germline	Chr2:165991410	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317108	rs_796052952	3 SubmittersRCV001200251 RCV001318625
NM_001165963.4(SCN1A):c.5753C>T (p.Ser1918Phe)	SNV Germline	Chr2:165991522	Pathogenic/Likely pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317662	rs_796053048	2 SubmittersRCV000189019 RCV002517890
NM_001165963.4(SCN1A):c.5710C>T (p.Gln1904Ter)	SNV Germline	Chr2:165991565	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317828	rs_796053103	2 SubmittersRCV000189095 RCV001387544
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 epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317649	rs_562208324	3 SubmittersRCV000189015 RCV000986869 RCV001071764
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu)	SNV Germline	Chr2:165991636	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases See cases	Criteria Provided Conflicting Classifications	CA317645	rs_201905405	8 SubmittersRCV000488340 RCV000692247 RCV001136462 RCV001136463 RCV002345677 RCV003128398
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp)	SNV Germline	Chr2:165991655	Likely pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA317637	rs_796053043	3 SubmittersRCV000189011 RCV000697361 RCV002227087
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile)	SNV Germline	Chr2:165991707	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA317629	rs_144691638	5 SubmittersRCV000726913 RCV001079061 RCV002314754 RCV002469053
NM_001165963.4(SCN1A):c.5567T>C (p.Met1856Thr)	SNV Germline	Chr2:165991708	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317625	rs_796053041	2 SubmittersRCV000189008 RCV001067049
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu)	SNV Germline	Chr2:165991765	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2 not specified	Criteria Provided Conflicting Classifications	CA317617	rs_149225252	4 SubmittersRCV000189006 RCV001317294 RCV001808472 RCV003401030
NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=)	SNV Germline	Chr2:165991929	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317104	rs_121918763	3 SubmittersRCV000188821 RCV001430872
NM_001165963.4(SCN1A):c.5291T>A (p.Phe1764Tyr)	SNV Germline	Chr2:165991984	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts See cases	Criteria Provided Conflicting Classifications	CA317597	rs_796053037	3 SubmittersRCV000188998 RCV001065456 RCV003156083
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)	SNV Germline	Chr2:165992057	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Autosomal dominant epilepsy Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA317589	rs_796053035	6 SubmittersRCV000188995 RCV002336501 RCV000781836 RCV001210054 RCV004796084
NM_001165963.4(SCN1A):c.5189T>C (p.Leu1730Pro)	SNV Germline	Chr2:165992086	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317816	rs_796053100	2 SubmittersRCV000189092 RCV001056579
NM_001165963.4(SCN1A):c.5131G>A (p.Gly1711Ser)	SNV Germline	Chr2:165992144	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317808	rs_796053098	3 SubmittersRCV000189090 RCV000807986 RCV002345678
NM_001165963.4(SCN1A):c.5121T>A (p.Phe1707Leu)	SNV Germline	Chr2:165992154	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317577	rs_796053033	2 SubmittersRCV000188992 RCV000806458
NM_001165963.4(SCN1A):c.4995G>A (p.Met1665Ile)	SNV Germline	Chr2:165992280	Likely pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317565	rs_796053031	2 SubmittersRCV000188989 RCV003753105
NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro)	SNV Germline	Chr2:165992359	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy	Reviewed By Expert Panel	CA317553	rs_796053029	3 SubmittersRCV000188984 RCV001244268 RCV004577517
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His)	SNV Germline	Chr2:165994274	Conflicting classifications of pathogenicity	not specified Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317525	rs_368834365	4 SubmittersRCV000188972 RCV000731424 RCV001393461
NM_001165963.4(SCN1A):c.4577C>G (p.Pro1526Arg)	SNV Germline	Chr2:165996017	Pathogenic/Likely pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317509	rs_796053022	2 SubmittersRCV000188966 RCV002514048
NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr)	SNV Germline	Chr2:165996024	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317505	rs_143088184	4 SubmittersRCV001345103 RCV001711484 RCV002514047
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 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317501	rs_372425457	5 SubmittersRCV000188964 RCV000986876 RCV001085148 RCV002317151
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr)	SNV Germline	Chr2:165996039	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317497	rs_796053021	4 SubmittersRCV000188963 RCV000818881 RCV001254862 RCV002517889
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 Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2 SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA317493	rs_139300715	12 SubmittersRCV000188961 RCV000416525 RCV000763458 RCV001050764 RCV003448284 RCV004734834
NM_001165963.4(SCN1A):c.4543G>A (p.Gly1515Arg)	SNV Germline	Chr2:165996051	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317489	rs_796053020	2 SubmittersRCV000188960 RCV003588594
NM_001165963.4(SCN1A):c.4476+1A>G	SNV Germline	Chr2:165998037	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317467	rs_796053014	3 SubmittersRCV000188953 RCV000201073 RCV001852496
NM_001165963.4(SCN1A):c.4360G>A (p.Glu1454Lys)	SNV Germline	Chr2:165998154	Pathogenic	Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter		rs_1553522472	1 SubmittersRCV002000214
NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe)	SNV Germline	Chr2:165998169	Conflicting classifications of pathogenicity	not specified Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317455	rs_768638174	4 SubmittersRCV000188949 RCV000766760 RCV001211105
NM_001165963.4(SCN1A):c.4338+5G>A	SNV Germline	Chr2:165999718	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA317454	rs_796053011	3 SubmittersRCV000188948 RCV002514046 RCV004537584
NM_001165963.4(SCN1A):c.4313T>C (p.Met1438Thr)	SNV Germline	Chr2:165999748	Pathogenic	Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts		rs_796053010	2 SubmittersRCV001898418 RCV004804286
NM_001165963.4(SCN1A):c.4297G>C (p.Gly1433Arg)	SNV Germline	Chr2:165999764	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317416	rs_121917908	2 SubmittersRCV000188935 RCV002514045
NM_001165963.4(SCN1A):c.4285G>A (p.Ala1429Thr)	SNV Germline	Chr2:165999776	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317442	rs_796053008	2 SubmittersRCV000188945 RCV003753104
NM_001165963.4(SCN1A):c.4285-4A>G	SNV Germline	Chr2:165999780	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317441	rs_796053007	4 SubmittersRCV000188944 RCV001326213 RCV002327016
NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys)	SNV Germline	Chr2:166002594	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Migraine, familial hemiplegic, 3	Criteria Provided Conflicting Classifications	CA317437	rs_775820803	4 SubmittersRCV000188943 RCV000814902 RCV002517011 RCV001328554
NM_001165963.4(SCN1A):c.4016C>A (p.Ala1339Asp)	SNV Germline	Chr2:166002740	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317429	rs_794726789	2 SubmittersRCV000188940 RCV001222481
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 Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 6	Criteria Provided Multiple Submitters No Conflicts	CA317421	rs_796053004	8 SubmittersRCV000188938 RCV000201135 RCV000622874 RCV001194614 RCV001385509 RCV002470805
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)	SNV Germline	Chr2:166009822	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Severe myoclonic epilepsy in infancy Intellectual disability Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317408	rs_146878122	9 SubmittersRCV000188933 RCV000471568 RCV000724898 RCV000986884 RCV001252612 RCV002314753
NM_001165963.4(SCN1A):c.3683T>G (p.Ile1228Ser)	SNV Germline	Chr2:166013766	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317387	rs_796052997	2 SubmittersRCV000188923 RCV003753103
NM_001165963.4(SCN1A):c.3607C>T (p.Gln1203Ter)	SNV Germline	Chr2:166013842	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317375	rs_796052995	2 SubmittersRCV000188920 RCV001852495
NM_001165963.4(SCN1A):c.3556G>T (p.Val1186Leu)	SNV Germline	Chr2:166013893	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317379	rs_780607306	3 SubmittersRCV000188921 RCV001407708 RCV002517888
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=)	SNV Germline	Chr2:166036048	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317359	rs_796052994	3 SubmittersRCV000188913 RCV001857648
NM_001165963.4(SCN1A):c.3405A>G (p.Glu1135=)	SNV Germline	Chr2:166036072	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317118	rs_796052954	2 SubmittersRCV000188827 RCV002517008
NM_001165963.4(SCN1A):c.3220G>A (p.Asp1074Asn)	SNV Germline	Chr2:166036257	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317351	rs_751514645	4 SubmittersRCV001229261 RCV001311216 RCV004965309
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 Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy 6B	Criteria Provided Conflicting Classifications	CA317343	rs_796052991	4 SubmittersRCV000188907 RCV001509553 RCV002514043 RCV003448283
NM_001165963.4(SCN1A):c.2966C>T (p.Ala989Val)	SNV Germline	Chr2:166036511	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317339	rs_796052990	2 SubmittersRCV000188905 RCV001317116
NM_001165963.4(SCN1A):c.2926A>C (p.Met976Leu)	SNV Germline	Chr2:166037796	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_773681556	4 SubmittersRCV001356386 RCV001042079 RCV002314752
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met)	SNV Germline	Chr2:166037883	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA317315	rs_796052986	4 SubmittersRCV000188898 RCV000559138 RCV001253284
NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg)	SNV Germline	Chr2:166037921	Pathogenic/Likely pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts		rs_796052987	2 SubmittersRCV002250315 RCV003094038
NM_001165963.4(SCN1A):c.2782C>T (p.Gln928Ter)	SNV Germline	Chr2:166037940	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317311	rs_796052985	2 SubmittersRCV000188896 RCV003753102
NM_001165963.4(SCN1A):c.2272A>C (p.Lys758Gln)	SNV Germline	Chr2:166041374	Pathogenic	Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter		rs_1553543316	1 SubmittersRCV001320602
NM_001165963.4(SCN1A):c.1814G>C (p.Arg605Thr)	SNV Germline	Chr2:166043898	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA317269	rs_374501252	4 SubmittersRCV000188882 RCV001060321 RCV002408846 RCV004734832
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn)	SNV Germline	Chr2:166043922	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317261	rs_149715258	5 SubmittersRCV000691458 RCV000725552 RCV002408845
NM_001165963.4(SCN1A):c.1662G>A (p.Gln554=)	SNV Germline	Chr2:166045043	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317249	rs_796052977	2 SubmittersRCV000188875 RCV001857647
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 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317245	rs_184524479	4 SubmittersRCV000188874 RCV000585879 RCV001857646 RCV002399702
NM_001165963.4(SCN1A):c.1582A>T (p.Ser528Cys)	SNV Germline	Chr2:166045123	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317241	rs_372372558	3 SubmittersRCV000656973 RCV000686709
NM_001165963.4(SCN1A):c.1499G>A (p.Arg500Gln)	SNV Germline	Chr2:166045206	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317237	rs_200176684	3 SubmittersRCV000734751 RCV001408607
NM_001165963.4(SCN1A):c.1348C>T (p.Gln450Ter)	SNV Germline	Chr2:166046799	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317229	rs_796052976	2 SubmittersRCV000188869 RCV003588593
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 epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317209	rs_796052973	5 SubmittersRCV000188864 RCV001528187 RCV001857645
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 Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA317213	rs_774937055	5 SubmittersRCV000188865 RCV001134813 RCV001134812 RCV001320100 RCV001775093
NM_001165963.4(SCN1A):c.1153G>A (p.Glu385Lys)	SNV Germline	Chr2:166047644	Pathogenic	Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter		rs_796052972	1 SubmittersRCV003072775
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val)	SNV Germline	Chr2:166048914	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 3 Early infantile epileptic encephalopathy with suppression bursts Epilepsy Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317775	rs_201870762	6 SubmittersRCV000282791 RCV000459597 RCV000397171 RCV001129822 RCV001721215 RCV001731424 RCV002314755
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys)	SNV Germline	Chr2:166048929	Pathogenic/Likely pathogenic	Condition: not provided Intellectual disability Severe myoclonic epilepsy in infancy Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317771	rs_781746113	3 SubmittersRCV000189077 RCV001255357 RCV001253376 RCV001857651
NM_001165963.4(SCN1A):c.971A>G (p.His324Arg)	SNV Germline	Chr2:166048943	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317767	rs_796053093	2 SubmittersRCV000189076 RCV001060675
NM_001165963.4(SCN1A):c.656G>C (p.Arg219Thr)	SNV Germline	Chr2:166052890	Pathogenic/Likely pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317144	rs_796052960	2 SubmittersRCV000188839 RCV002517009
NM_001165963.4(SCN1A):c.603-1G>A	SNV Germline	Chr2:166052944	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317143	rs_796052959	2 SubmittersRCV000188838 RCV001056856
NM_001165963.4(SCN1A):c.602+1G>C	SNV Germline	Chr2:166054637	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317142	rs_794726827	2 SubmittersRCV000188837 RCV000804719
NM_001165963.4(SCN1A):c.602C>A (p.Ala201Glu)	SNV Germline	Chr2:166054638	Pathogenic	Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter		rs_1553551312	1 SubmittersRCV001992751
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)	SNV Germline	Chr2:166056412	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA317752	rs_796053090	4 SubmittersRCV000189072 RCV000636394 RCV001252613
NM_001165963.4(SCN1A):c.265-1G>A	SNV Germline	Chr2:166058689	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA317117	rs_796052953	3 SubmittersRCV000188826 RCV001055748
NM_001165963.4(SCN1A):c.203T>G (p.Ile68Ser)	SNV Germline	Chr2:166073419	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA317804	rs_758871507	2 SubmittersRCV000189089 RCV001852498
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys)	SNV Germline	Chr2:166073540	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts 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 SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA317371	rs_754032480	5 SubmittersRCV000188919 RCV001241778 RCV002225093 RCV002485282 RCV004734833
NM_001032221.6(STXBP1):c.36G>C (p.Glu12Asp)	SNV Germline	Chr9:127612439	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA318901	rs_796053378	2 SubmittersRCV000189628 RCV001218642
NM_001032221.6(STXBP1):c.87+1G>A	SNV Germline	Chr9:127651653	Pathogenic/Likely pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA318843	rs_796053350	3 SubmittersRCV000189593 RCV002517020
NM_001032221.6(STXBP1):c.167C>G (p.Thr56Arg)	SNV Germline	Chr9:127653794	Likely pathogenic	Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter		rs_1554776228	1 SubmittersRCV001996146
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile)	SNV Germline	Chr9:127660033	Conflicting classifications of pathogenicity	not specified Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases STXBP1-related disorder	Criteria Provided Conflicting Classifications	CA318830	rs_34830702	6 SubmittersRCV000189584 RCV000698059 RCV001088539 RCV002317654 RCV004553036
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)	SNV Germline	Chr9:127661192	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Intellectual disability Seizure Early infantile epileptic encephalopathy with suppression bursts Intellectual disability See cases	Criteria Provided Multiple Submitters No Conflicts	CA318847	rs_796053353	11 SubmittersRCV000189597 RCV000416131 RCV000851509 RCV001061798 RCV001260844 RCV002252038
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)	SNV Germline	Chr9:127663343	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Early infantile epileptic encephalopathy with suppression bursts Infantile epilepsy syndrome Neurodevelopmental delay	Criteria Provided Multiple Submitters No Conflicts	CA318850		7 SubmittersRCV000189599 RCV000415749 RCV000548823 RCV001265515 RCV002273977
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)	SNV Germline	Chr9:127663344	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Autism Neurodegeneration Photosensitive tonic-clonic seizure Intellectual disability, severe Developmental and epileptic encephalopathy, 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318852	rs_796053356	11 SubmittersRCV000189600 RCV000796165 RCV001003592 RCV002272167 RCV002345682
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly)	SNV Germline	Chr9:127666205	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Developmental and epileptic encephalopathy, 4	Criteria Provided Conflicting Classifications	CA318915	rs_796053359	4 SubmittersRCV000549629 RCV002372156 RCV003150811
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)	SNV Germline	Chr9:127666205	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Early infantile epileptic encephalopathy with suppression bursts Infantile epilepsy syndrome STXBP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA318859	rs_796053359	11 SubmittersRCV000189604 RCV000415997 RCV000819097 RCV001265520 RCV003335187
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)	SNV Germline	Chr9:127668160	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Inborn genetic diseases Early infantile epileptic encephalopathy with suppression bursts Infantile epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA318862	rs_796053361	11 SubmittersRCV000189606 RCV000416099 RCV000623542 RCV000636416 RCV001265522
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)	SNV Germline	Chr9:127673250	Pathogenic	Condition: not provided Epileptic encephalopathy Early infantile epileptic encephalopathy with suppression bursts Intellectual disability Infantile epilepsy syndrome Developmental and epileptic encephalopathy, 4 Cerebellar ataxia Moderate global developmental delay Tremor	Criteria Provided Multiple Submitters No Conflicts	CA318871	rs_796053366	11 SubmittersRCV000189611 RCV000416987 RCV000477371 RCV001260836 RCV001265514 RCV001336021 RCV001807119
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)	SNV Germline	Chr9:127675909	Pathogenic	Condition: not provided Epileptic encephalopathy Early infantile epileptic encephalopathy with suppression bursts Infantile epilepsy syndrome Developmental and epileptic encephalopathy, 4 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA318875	rs_796053367	11 SubmittersRCV000189614 RCV000417024 RCV000636419 RCV001265293 RCV001332690 RCV004020295
NM_001032221.6(STXBP1):c.1256C>T (p.Thr419Met)	SNV Germline	Chr9:127676650	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA318881	rs_748965227	2 SubmittersRCV000189617 RCV001088784
NM_001032221.6(STXBP1):c.1359+1G>A	SNV Germline	Chr9:127676754	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA318883	rs_796053370	5 SubmittersRCV000189618 RCV001204641 RCV001781559
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu)	SNV Germline	Chr9:127678510	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Early infantile epileptic encephalopathy with suppression bursts Intellectual disability Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA318877	rs_796053368	7 SubmittersRCV000189615 RCV000415832 RCV000471170 RCV001260800 RCV002514068
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)	SNV Germline	Chr9:127682509	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Early infantile epileptic encephalopathy with suppression bursts Infantile epilepsy syndrome See cases Developmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA318892	rs_796053373	12 SubmittersRCV000189623 RCV000415936 RCV001071757 RCV001265516 RCV001420235 RCV003126574
NM_001032221.6(STXBP1):c.1672C>T (p.Gln558Ter)	SNV Germline	Chr9:127682530	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA318898	rs_796053376	2 SubmittersRCV000189626 RCV002514069
NM_001032221.6(STXBP1):c.1702+1G>A	SNV Germline	Chr9:127682561	Pathogenic	Condition: not provided STXBP1-associated neurodevelopmental disorder Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 4 Infantile epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA318900	rs_796053377	6 SubmittersRCV000189627 RCV000578282 RCV000796895 RCV001253119 RCV001265152
NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His)	SNV Germline	Chr9:128574679	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 5 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA318654	rs_775634580	3 SubmittersRCV000189484 RCV001808503 RCV001439173
NM_001130438.3(SPTAN1):c.416G>A (p.Arg139Gln)	SNV Germline	Chr9:128574727	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318555	rs_773288631	4 SubmittersRCV000189426 RCV001510356 RCV001808474 RCV004020292
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=)	SNV Germline	Chr9:128575309	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5 Inborn genetic diseases SPTAN1-related disorder	Criteria Provided Conflicting Classifications	CA318658	rs_763385120	5 SubmittersRCV000189486 RCV001492552 RCV001808505 RCV002354534 RCV004553032
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg)	SNV Germline	Chr9:128575335	Conflicting classifications of pathogenicity	not specified Condition: not provided Developmental and epileptic encephalopathy, 5 Inborn genetic diseases Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA318660	rs_760419507	5 SubmittersRCV000189487 RCV000487757 RCV001808506 RCV002362990 RCV002514066
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro)	SNV Germline	Chr9:128577205	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5	Criteria Provided Conflicting Classifications	CA318558	rs_796053298	4 SubmittersRCV000189428 RCV000528432 RCV001808475
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His)	SNV Germline	Chr9:128577380	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Developmental and epileptic encephalopathy, 5	Criteria Provided Conflicting Classifications	CA318662	rs_140076136	4 SubmittersRCV000636326 RCV000727121 RCV001808507
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser)	SNV Germline	Chr9:128578178	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318562	rs_2227863	4 SubmittersRCV000189430 RCV000816493 RCV001808477 RCV002345680
NM_001130438.3(SPTAN1):c.1247G>A (p.Ser416Asn)	SNV Germline	Chr9:128579662	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA318666	rs_773663318	2 SubmittersRCV000189490 RCV003765205
NM_001130438.3(SPTAN1):c.1348G>T (p.Ala450Ser)	SNV Germline	Chr9:128580946	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5	Criteria Provided Conflicting Classifications	CA318566	rs_768940761	3 SubmittersRCV000189432 RCV000463688 RCV001808478
NM_001130438.3(SPTAN1):c.1375C>T (p.Arg459Cys)	SNV Germline	Chr9:128580973	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318670	rs_772281075	3 SubmittersRCV000189492 RCV002517018 RCV002381641
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val)	SNV Germline	Chr9:128582527	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Developmental and epileptic encephalopathy, 5	Criteria Provided Conflicting Classifications	CA318674	rs_796053315	3 SubmittersRCV000458086 RCV001721228 RCV001808510
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile)	SNV Germline	Chr9:128582732	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318570	rs_373973880	6 SubmittersRCV000713504 RCV000699799 RCV001808480 RCV002408850
NM_001130438.3(SPTAN1):c.1806+4A>G	SNV Germline	Chr9:128582853	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5	Criteria Provided Conflicting Classifications	CA318572	rs_770046688	6 SubmittersRCV000726972 RCV001081620 RCV001781557
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys)	SNV Germline	Chr9:128584321	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Developmental and epileptic encephalopathy, 5 Inborn genetic diseases SPTAN1-related disorder	Criteria Provided Conflicting Classifications	CA318575	rs_769094437	6 SubmittersRCV000189437 RCV000474925 RCV001705044 RCV001808482 RCV002426915 RCV004553030
NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln)	SNV Germline	Chr9:128584490	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5	Criteria Provided Conflicting Classifications	CA318684	rs_774283264	3 SubmittersRCV000189499 RCV001302124 RCV001808512
NM_001130438.3(SPTAN1):c.2422G>A (p.Ala808Thr)	SNV Germline	Chr9:128584510	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Developmental and epileptic encephalopathy, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318686	rs_766491965	4 SubmittersRCV001236055 RCV001705049 RCV001808513 RCV002514067
NM_001130438.3(SPTAN1):c.2861A>C (p.Gln954Pro)	SNV Germline	Chr9:128587688	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA318586	rs_796053301	2 SubmittersRCV000189443 RCV001857655
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met)	SNV Germline	Chr9:128588825	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Developmental and epileptic encephalopathy, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318588	rs_375623472	6 SubmittersRCV000189444 RCV001058848 RCV001288013 RCV001808485 RCV003258690
NM_001130438.3(SPTAN1):c.3079G>A (p.Ala1027Thr)	SNV Germline	Chr9:128591549	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Conflicting Classifications	CA318690	rs_779759134	2 SubmittersRCV001852510 RCV001721229
NM_001130438.3(SPTAN1):c.3572C>T (p.Pro1191Leu)	SNV Germline	Chr9:128600108	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA318599	rs_796053304	2 SubmittersRCV000189452 RCV003105818
NM_001130438.3(SPTAN1):c.3574T>C (p.Trp1192Arg)	SNV Germline	Chr9:128600110	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA318601	rs_796053305	2 SubmittersRCV000189453 RCV001852506
NM_001130438.3(SPTAN1):c.3664G>T (p.Ala1222Ser)	SNV Germline	Chr9:128604362	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA318605	rs_796053306	2 SubmittersRCV000189455 RCV001857656
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn)	SNV Germline	Chr9:128605470	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Peripheral neuropathy Condition: not provided Developmental and epileptic encephalopathy, 5	Criteria Provided Conflicting Classifications	CA318609	rs_574740801	6 SubmittersRCV000474048 RCV000449497 RCV001705046 RCV001808489
NM_001130438.3(SPTAN1):c.4046+5G>A	SNV Germline	Chr9:128605482	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 5 Inborn genetic diseases Early infantile epileptic encephalopathy with suppression bursts SPTAN1-related disorder	Criteria Provided Conflicting Classifications	CA318700	rs_541570752	5 SubmittersRCV001705051 RCV001808514 RCV002311283 RCV002056975 RCV004553033
NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His)	SNV Germline	Chr9:128607985	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Developmental and epileptic encephalopathy, 5	Criteria Provided Conflicting Classifications	CA318618	rs_762216368	4 SubmittersRCV000189462 RCV000704575 RCV002514065 RCV001808493
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His)	SNV Germline	Chr9:128608015	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5	Criteria Provided Conflicting Classifications	CA318703	rs_752347538	3 SubmittersRCV000189510 RCV000636442 RCV001808515
NM_001130438.3(SPTAN1):c.4527C>A (p.Asp1509Glu)	SNV Germline	Chr9:128608909	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Condition: not provided Developmental and epileptic encephalopathy, 5	Criteria Provided Conflicting Classifications	CA318620	rs_139113273	4 SubmittersRCV001214342 RCV002327020 RCV001705047 RCV001808494
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu)	SNV Germline	Chr9:128612161	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Developmental and epileptic encephalopathy, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318623	rs_374723711	4 SubmittersRCV001223857 RCV001705048 RCV001808495 RCV004678632
NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr)	SNV Germline	Chr9:128617752	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 5 Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA318718	rs_796053320	3 SubmittersRCV001808517 RCV001705052 RCV001040415
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp)	SNV Germline	Chr9:128618053	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Developmental and epileptic encephalopathy, 5	Criteria Provided Conflicting Classifications	CA318780	rs_148402616	4 SubmittersRCV000189551 RCV000464908 RCV002345681 RCV001808528
NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser)	SNV Germline	Chr9:128618918	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Conflicting Classifications	CA318627	rs_200248814	4 SubmittersRCV000189469 RCV001463485 RCV003457651
NM_001130438.3(SPTAN1):c.5922G>C (p.Lys1974Asn)	SNV Germline	Chr9:128624417	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5	Criteria Provided Conflicting Classifications	CA318629	rs_777407223	3 SubmittersRCV000189470 RCV001321393 RCV001808496
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg)	SNV Germline	Chr9:128625124	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318722	rs_754276364	4 SubmittersRCV000189520 RCV001323491 RCV001808518 RCV004965313
NM_001130438.3(SPTAN1):c.6148G>A (p.Ala2050Thr)	SNV Germline	Chr9:128625847	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318633	rs_762645157	3 SubmittersRCV000189472 RCV001852508 RCV004965311
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr)	SNV Germline	Chr9:128625934	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318641	rs_377253398	5 SubmittersRCV000189476 RCV000686393 RCV001808499 RCV001721226 RCV002517901
NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg)	SNV Germline	Chr9:128626419	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318730	rs_796053322	4 SubmittersRCV000189524 RCV001089073 RCV001808519 RCV004668837
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys)	SNV Germline	Chr9:128626535	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5	Criteria Provided Conflicting Classifications	CA318734	rs_796053323	5 SubmittersRCV000415933 RCV001034128 RCV001808521
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg)	SNV Germline	Chr9:128626599	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5 Inborn genetic diseases Condition: not provided SPTAN1-related disorder	Criteria Provided Conflicting Classifications	CA318738	rs_144289764	7 SubmittersRCV000189528 RCV000549789 RCV001262535 RCV002317651 RCV003221842 RCV004737294
NM_001130438.3(SPTAN1):c.6496C>T (p.Arg2166Cys)	SNV Germline	Chr9:128626607	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318740	rs_775190610	4 SubmittersRCV000189529 RCV001314638 RCV001808522 RCV002362991
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys)	SNV Germline	Chr9:128632286	Pathogenic/Likely pathogenic	Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5	Criteria Provided Multiple Submitters No Conflicts		rs_1554768992	2 SubmittersRCV001231695 RCV002510568
NM_001130438.3(SPTAN1):c.7129G>A (p.Glu2377Lys)	SNV Germline	Chr9:128632687	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 5 Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Conflicting Classifications	CA318645	rs_757162652	3 SubmittersRCV001808500 RCV001312364 RCV001721227
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn)	SNV Germline	Chr9:128633296	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 5 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318759	rs_367776636	6 SubmittersRCV000189539 RCV000636383 RCV001808525 RCV003488443 RCV002317652
NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met)	SNV Germline	Chr11:792367	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Developmental delay Macrocephaly Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318388	rs_200603610	6 SubmittersRCV000636275 RCV000678848 RCV001721220 RCV002314763
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln)	SNV Germline	Chr11:792640	Conflicting classifications of pathogenicity	Early myoclonic encephalopathy Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318345	rs_201089795	6 SubmittersRCV000398937 RCV000477165 RCV001083871 RCV002317159
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=)	SNV Germline	Chr11:792726	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318339	rs_199887745	6 SubmittersRCV000189310 RCV001088046 RCV000726714 RCV002327018
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met)	SNV Germline	Chr11:794782	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318363	rs_142220309	7 SubmittersRCV000727499 RCV001080737 RCV002054230 RCV002390499
NM_001191061.2(SLC25A22):c.133G>A (p.Val45Met)	SNV Germline	Chr11:794789	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA318335	rs_570016062	2 SubmittersRCV000189308 RCV002514062
NM_001330260.2(SCN8A):c.614C>A (p.Ala205Glu)	SNV Germline	Chr12:51687219	Likely pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA318317	rs_796053233	2 SubmittersRCV000189298 RCV001220316
NM_014191.4(SCN8A):c.619A>G (p.Ile207Val)	SNV Germline	Chr12:51688762	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA318327	rs_767123396	2 SubmittersRCV000189304 RCV001323177
NM_001330260.2(SCN8A):c.2534C>T (p.Ser845Phe)	SNV Germline	Chr12:51762666	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13	Criteria Provided Conflicting Classifications	CA318256	rs_796053210	3 SubmittersRCV000189266 RCV002517014 RCV003223395
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser)	SNV Germline	Chr12:51769111	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial infantile, 5 Inborn genetic diseases SCN8A-related disorder	Criteria Provided Conflicting Classifications	CA318321	rs_202006479	7 SubmittersRCV000514951 RCV000703972 RCV001838987 RCV002321764 RCV004537587
NM_001330260.2(SCN8A):c.3640G>A (p.Ala1214Thr)	SNV Germline	Chr12:51770678	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318266	rs_769243993	4 SubmittersRCV001034264 RCV000725891 RCV002453700
NM_001330260.2(SCN8A):c.3955G>T (p.Ala1319Ser)	SNV Germline	Chr12:51786554	Pathogenic/Likely pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA318272	rs_796053214	2 SubmittersRCV000189275 RCV000700845
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)	SNV Germline	Chr12:51790401	Pathogenic/Likely pathogenic	Condition: not provided Epileptic encephalopathy Developmental and epileptic encephalopathy, 13 Epilepsy Early infantile epileptic encephalopathy with suppression bursts Complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA318276	rs_796053216	8 SubmittersRCV000189277 RCV000416962 RCV000500598 RCV000627041 RCV000462091 RCV003992219
NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile)	SNV Germline	Chr12:51794565	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts SCN8A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318323	rs_780940263	5 SubmittersRCV000727444 RCV001210171 RCV004537588 RCV004965310
NM_001330260.2(SCN8A):c.4780A>C (p.Ile1594Leu)	SNV Germline	Chr12:51794626	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA318325	rs_752829853	2 SubmittersRCV000189303 RCV002514061
NM_001330260.2(SCN8A):c.4936A>T (p.Met1646Leu)	SNV Germline	Chr12:51806422	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA318290	rs_796053223	2 SubmittersRCV000189284 RCV002517015
NM_001330260.2(SCN8A):c.5555C>T (p.Thr1852Ile)	SNV Germline	Chr12:51807041	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts SCN8A-related disorder	Criteria Provided Conflicting Classifications	CA318298	rs_796053227	3 SubmittersRCV000189288 RCV000792213 RCV004528970
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)	SNV Germline	Chr12:51807100	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 Epileptic encephalopathy See cases Seizures, benign familial infantile, 5 Complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA318300	rs_796053228	8 SubmittersRCV000189289 RCV000229600 RCV000239726 RCV000416947 RCV002252035 RCV002281572 RCV003992221
NM_001330260.2(SCN8A):c.5615G>T (p.Arg1872Leu)	SNV Germline	Chr12:51807101	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA318301	rs_796053229	3 SubmittersRCV000189290 RCV002517898 RCV003992222
NM_001330260.2(SCN8A):c.5761A>C (p.Thr1921Pro)	SNV Germline	Chr12:51807247	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318303	rs_368796221	4 SubmittersRCV000546940 RCV000658651 RCV002317157
NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro)	SNV Germline	Chr12:51807281	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318305	rs_371766742	4 SubmittersRCV000189292 RCV000529426 RCV002354533
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)	SNV Germline	Chr12:51807365	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Developmental and epileptic encephalopathy, 13 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318309	rs_369346315	7 SubmittersRCV000636407 RCV000726306 RCV001197747 RCV002317158
NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser)	SNV Germline	Chr20:63406691	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Complex neurodevelopmental disorder	Criteria Provided Conflicting Classifications	CA090956	rs_756609768	4 SubmittersRCV000513433 RCV001050285 RCV003315326
NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu)	SNV Germline	Chr20:63406708	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 7 Seizures, benign familial neonatal, 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA315536	rs_745508762	5 SubmittersRCV000762354 RCV001302913 RCV002485271 RCV004020273
NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser)	SNV Germline	Chr20:63406934	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Continuous spike and waves during slow sleep Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA315318	rs_748400155	5 SubmittersRCV000815524 RCV001705016 RCV001847823 RCV002444762
NM_172107.4(KCNQ2):c.2245G>T (p.Glu749Ter)	SNV Germline	Chr20:63407018	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA090958	rs_796052658	2 SubmittersRCV000187933 RCV000636309
NM_172107.4(KCNQ2):c.2072G>A (p.Arg691His)	SNV Germline	Chr20:63407191	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA315520	rs_773194884	2 SubmittersRCV000187932 RCV000807433
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu)	SNV Germline	Chr20:63407308	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA090961	rs_770730662	5 SubmittersRCV000187955 RCV000686537 RCV001838986 RCV002415807
NM_172107.4(KCNQ2):c.1887+1G>T	SNV Germline	Chr20:63408412	Pathogenic/Likely pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA315570	rs_796052670	2 SubmittersRCV000187954 RCV003753101
NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser)	SNV Germline	Chr20:63408486	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided Inborn genetic diseases Complex neurodevelopmental disorder	Criteria Provided Conflicting Classifications	CA315504	rs_751334184	5 SubmittersRCV000477029 RCV000730650 RCV002408840 RCV003315325
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro)	SNV Germline	Chr20:63413456	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Complex neurodevelopmental disorder	Criteria Provided Conflicting Classifications	CA315495	rs_796052656	5 SubmittersRCV000710150 RCV001207533 RCV003315323
NM_172107.4(KCNQ2):c.1721G>A (p.Gly574Asp)	SNV Germline	Chr20:63413492	Likely pathogenic	Developmental and epileptic encephalopathy, 7 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter		rs_796052654	2 SubmittersRCV001194617 RCV003588591
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn)	SNV Germline	Chr20:63413526	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 7 Developmental and epileptic encephalopathy, 7 Seizures, benign familial neonatal, 1 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases Seizures, benign familial neonatal, 1	Criteria Provided Multiple Submitters No Conflicts	CA315477	rs_796052653	10 SubmittersRCV000187917 RCV000678190 RCV000763450 RCV000810995 RCV002317111 RCV002281569
NM_172107.4(KCNQ2):c.1682C>T (p.Pro561Leu)	SNV Germline	Chr20:63413531	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 7 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA315474	rs_796052652	3 SubmittersRCV000187916 RCV000678189 RCV002517873
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)	SNV Germline	Chr20:63413535	Pathogenic/Likely pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 7 Neurodevelopmental disorder Absent speech Limb dystonia Global developmental delay Inborn genetic diseases Complex neurodevelopmental disorder KCNQ2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA315471	rs_773171451	15 SubmittersRCV000187915 RCV000462637 RCV000678188 RCV001374917 RCV001003634 RCV002514018 RCV003315322 RCV004732758
NM_172107.4(KCNQ2):c.1666A>G (p.Lys556Glu)	SNV Germline	Chr20:63413547	Pathogenic	Developmental and epileptic encephalopathy, 7 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Single Submitter		rs_1555853593	2 SubmittersRCV000678187 RCV001857621
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)	SNV Germline	Chr20:63413556	Pathogenic	Condition: not provided Seizures, benign familial neonatal, 1 Developmental and epileptic encephalopathy, 7 Early infantile epileptic encephalopathy with suppression bursts Seizure	Criteria Provided Multiple Submitters No Conflicts	CA278566	rs_759584387	12 SubmittersRCV000187912 RCV000203596 RCV000678185 RCV000706752 RCV001251207
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp)	SNV Germline	Chr20:63413574	Pathogenic/Likely pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial neonatal, 1	Criteria Provided Multiple Submitters No Conflicts	CA315462	rs_796052650	6 SubmittersRCV000187911 RCV000551309 RCV000678183
NM_172107.4(KCNQ2):c.1632-1G>A	SNV Germline	Chr20:63413582	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA315455	rs_118192233	2 SubmittersRCV000187908 RCV002514017
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val)	SNV Germline	Chr20:63414923	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 7 Seizures, benign familial neonatal, 1 Condition: not provided Complex neurodevelopmental disorder	Criteria Provided Conflicting Classifications	CA315447	rs_375264483	6 SubmittersRCV000636418 RCV000765494 RCV000762355 RCV003315321
NM_172107.4(KCNQ2):c.1405G>A (p.Ala469Thr)	SNV Germline	Chr20:63415023	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA315445	rs_781778855	3 SubmittersRCV000187903 RCV001857620
NM_172107.4(KCNQ2):c.1301+5C>T	SNV Germline	Chr20:63419614	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts See cases	Criteria Provided Conflicting Classifications	CA315442	rs_200872349	3 SubmittersRCV000187901 RCV000476467 RCV004797792
NM_172107.4(KCNQ2):c.1079G>A (p.Trp360Ter)	SNV Germline	Chr20:63433848	Pathogenic	Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_796052644	2 SubmittersRCV001863912 RCV003481145
NM_172107.4(KCNQ2):c.1058G>A (p.Arg353His)	SNV Germline	Chr20:63433869	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 7 Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA315432	rs_796052645	3 SubmittersRCV000187896 RCV000678162 RCV001376923
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys)	SNV Germline	Chr20:63433870	Pathogenic/Likely pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial neonatal, 1	Criteria Provided Multiple Submitters No Conflicts	CA315430	rs_118192218	4 SubmittersRCV000187895 RCV000694219 RCV003223393
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu)	SNV Germline	Chr20:63438644	Pathogenic/Likely pathogenic	Condition: not provided Intellectual disability, moderate Abnormal facial shape Seizure Autistic behavior Epicanthus Early infantile epileptic encephalopathy with suppression bursts Complex neurodevelopmental disorder Developmental and epileptic encephalopathy, 7 Seizures, benign familial neonatal, 1	Criteria Provided Multiple Submitters No Conflicts	CA315418	rs_796052641	8 SubmittersRCV000187889 RCV001089685 RCV001056663 RCV003315320 RCV004786512 RCV004782293
NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp)	SNV Germline	Chr20:63438711	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA315414	rs_796052639	3 SubmittersRCV000187887 RCV003753099 RCV004984735
NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu)	SNV Germline	Chr20:63439610	Pathogenic/Likely pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 7	Criteria Provided Multiple Submitters No Conflicts	CA315408	rs_775918190	3 SubmittersRCV000187884 RCV001059171 RCV000678151
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)	SNV Germline	Chr20:63439644	Pathogenic	Developmental and epileptic encephalopathy, 7 Condition: not provided Epileptic encephalopathy Early infantile epileptic encephalopathy with suppression bursts Complex neurodevelopmental disorder Seizure KCNQ2-related disorder Seizures, benign familial neonatal, 1	Criteria Provided Multiple Submitters No Conflicts	CA278571		14 SubmittersRCV000203604 RCV000187883 RCV000417034 RCV000473067 RCV003315318 RCV004577325 RCV001265545 RCV002281568
NM_172107.4(KCNQ2):c.844G>A (p.Asp282Asn)	SNV Germline	Chr20:63439681	Pathogenic/Likely pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA315404	rs_796052636	2 SubmittersRCV000187881 RCV001377992
NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser)	SNV Germline	Chr20:63442440	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA315386	rs_796052631	3 SubmittersRCV000187873 RCV001857618 RCV002317110
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)	SNV Germline	Chr20:63442482	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial neonatal, 1 Developmental and epileptic encephalopathy, 7	Criteria Provided Conflicting Classifications	CA315383	rs_74315392	7 SubmittersRCV000187872 RCV000622359 RCV002517872 RCV003992216 RCV002470804
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys)	SNV Germline	Chr20:63444721	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 7 Intellectual disability Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial neonatal, 1	Criteria Provided Multiple Submitters No Conflicts		rs_796052626	5 SubmittersRCV000678132 RCV001089801 RCV001229923 RCV002273975
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)	SNV Germline	Chr20:63444748	Pathogenic	Developmental and epileptic encephalopathy, 7 Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial neonatal, 1 Complex neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA278564	rs_796052623	13 SubmittersRCV000203591 RCV000187858 RCV000802499 RCV000679892 RCV003315316
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)	SNV Germline	Chr20:63444756	Pathogenic	Condition: not provided Inborn genetic diseases Developmental and epileptic encephalopathy, 7 Seizures, benign familial neonatal, 1 Complex neurodevelopmental disorder Developmental and epileptic encephalopathy, 7 Early infantile epileptic encephalopathy with suppression bursts See cases	Criteria Provided Multiple Submitters No Conflicts	CA315361	rs_796052621	11 SubmittersRCV000187856 RCV000623027 RCV000768251 RCV003315315 RCV002290964 RCV000807499 RCV001420283
NM_172107.4(KCNQ2):c.583T>C (p.Ser195Pro)	SNV Germline	Chr20:63444766	Pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 7 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA315359	rs_796052620	4 SubmittersRCV000187855 RCV000808224 RCV000678127 RCV004020272
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)	SNV Germline	Chr20:63445321	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 7 Early infantile epileptic encephalopathy with suppression bursts Intellectual disability Complex neurodevelopmental disorder KCNQ2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA315355	rs_796052618	11 SubmittersRCV000187853 RCV000408747 RCV001386878 RCV001089802 RCV003315313 RCV004528968
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys)	SNV Germline	Chr20:63446754	Pathogenic/Likely pathogenic	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 7 Seizures, benign familial neonatal, 1	Criteria Provided Multiple Submitters No Conflicts	CA315353	rs_796052617	3 SubmittersRCV000187852 RCV001232372 RCV002478657
NM_172107.4(KCNQ2):c.338C>T (p.Ser113Phe)	SNV Germline	Chr20:63446796	Conflicting classifications of pathogenicity	Condition: not provided Complex neurodevelopmental disorder Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA315349	rs_796052616	3 SubmittersRCV000187850 RCV003315312 RCV001070885
NM_172107.4(KCNQ2):c.190G>T (p.Ala64Ser)	SNV Germline	Chr20:63472274	Conflicting classifications of pathogenicity	not specified Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Conflicting Classifications	CA315339	rs_780110473	2 SubmittersRCV000187846 RCV001206346
NM_172107.4(KCNQ2):c.128C>T (p.Ala43Val)	SNV Germline	Chr20:63472336	Conflicting classifications of pathogenicity	Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Complex neurodevelopmental disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA315543	rs_749554385	4 SubmittersRCV000187941 RCV000817367 RCV003315327 RCV002311274
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile)	SNV Germline	Chr12:51751523	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial infantile, 5 Developmental and epileptic encephalopathy, 13 Complex neurodevelopmental disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA204472	rs_797045013	5 SubmittersRCV000190513 RCV001852528 RCV000850597 RCV003992223 RCV002444773
NM_020988.3(GNAO1):c.626G>A (p.Arg209His)	SNV Germline	Chr16:56336763	Pathogenic	Inborn genetic diseases Neurodevelopmental disorder with involuntary movements Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA204658	rs_797044878	7 SubmittersRCV000190691 RCV000490633 RCV000255659 RCV001065368
NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys)	SNV Germline	Chr16:56351396	Pathogenic	Condition: not provided Inborn genetic diseases Neurodevelopmental disorder with involuntary movements Early infantile epileptic encephalopathy with suppression bursts Developmental delay Abnormality of the nervous system Developmental and epileptic encephalopathy, 17 GNAO1-related developmental delay-seizures-movement disorder spectrum	Criteria Provided Multiple Submitters No Conflicts	CA204886	rs_797044951	10 SubmittersRCV000254701 RCV000190803 RCV000490631 RCV001857676 RCV001580372 RCV001814097 RCV001808530 RCV003996903
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)	SNV Germline	Chr20:10284751	Likely pathogenic	Epilepsy with generalized tonic-clonic seizures Unilateral Hypotonia Focal epilepsy Intellectual disability Condition: not provided Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA204648	rs_797044873	3 SubmittersRCV000190683 RCV001249220 RCV001706164
NM_172107.4(KCNQ2):c.693G>C (p.Glu231Asp)	SNV Germline	Chr20:63442529	Pathogenic/Likely pathogenic	Inborn genetic diseases Early infantile epileptic encephalopathy with suppression bursts	Criteria Provided Multiple Submitters No Conflicts	CA204842	rs_797044938	2 SubmittersRCV000190782 RCV001857675
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=)	SNV Germline	Chr1:43899601	Conflicting classifications of pathogenicity	not specified Condition: not provided Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA207470	rs_115003742	9 SubmittersRCV000193762 RCV000723604 RCV001079327 RCV002315508

NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu)

SNV
Germline

Chr11:792429

Pathogenic/Likely pathogenic

Early myoclonic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA115172

rs_121918334

3 SubmittersRCV000001847 RCV001851565 RCV002508754

NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp)

SNV
Germline

Chr9:127682489

Pathogenic

Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA118448

rs_121918317

3 SubmittersRCV000007118 RCV003588557

NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)

SNV
Germline

Chr9:127675855

Pathogenic

Developmental and epileptic encephalopathy, 4
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Infantile epilepsy syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA118456

rs_121918321

9 SubmittersRCV000007122 RCV000189612 RCV000539734 RCV001265424 RCV001266381

NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr)

SNV
Germline

Chr20:63439609

Pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Complex neurodevelopmental disorder
Inborn genetic diseases
Developmental and epileptic encephalopathy, 7

Criteria Provided
Multiple Submitters
No Conflicts

CA340674

rs_74315390

8 SubmittersRCV000007807 RCV001245227 RCV001564572 RCV003315291 RCV002316186 RCV002264637

NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp)

SNV
Germline

Chr20:63444709

Pathogenic/Likely pathogenic

Seizures, benign familial neonatal, 1
Neonatal/infantile epilepsy syndrome
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA245495

rs_28939684

8 SubmittersRCV000007810 RCV004786244 RCV000790713 RCV001851725 RCV003315292

NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp)

SNV
Germline

Chr20:63444730

Pathogenic

Seizures, benign familial neonatal, 1, and/or myokymia
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases
Complex neurodevelopmental disorder
Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7

Criteria Provided
Multiple Submitters
No Conflicts

CA118744

rs_74315391

10 SubmittersRCV000007811 RCV000636312 RCV000187862 RCV000623725 RCV003315293 RCV000678084 RCV002255996

NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp)

SNV
Germline

Chr20:63442482

Pathogenic

Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 2
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA130021

rs_74315392

4 SubmittersRCV000030664 RCV000678092 RCV001059860 RCV003441710

NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln)

SNV
Germline

Chr20:63444729

Pathogenic

Seizures, benign familial neonatal, 1, and/or myokymia
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
KCNQ2-related disorder
Developmental and epileptic encephalopathy, 7
Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 1
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA118745

rs_118192200

8 SubmittersRCV000007815 RCV000187863 RCV001205287 RCV004732533 RCV000678085 RCV000763453 RCV003315294

NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)

SNV
Germline

Chr2:165373331

Pathogenic

Seizures, benign familial infantile, 3
Condition: not provided
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 11
Complex neurodevelopmental disorder
Benign familial infantile epilepsy
benign sporadic infantile epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA122773

10 SubmittersRCV000013740 RCV000189142 RCV001218692 RCV001847598 RCV001260972 RCV001265327 RCV001847599 RCV003155910

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
Early infantile epileptic encephalopathy with suppression bursts
Autosomal dominant epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA256584

rs_121918622

6 SubmittersRCV000013742 RCV000059521 RCV000484119 RCV001040793 RCV001192959

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
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy
Condition: not provided
Inborn genetic diseases
Seizure
SCN1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256587

rs_121918623

11 SubmittersRCV000013743 RCV000059471 RCV000686817 RCV001253103 RCV001311218 RCV002316193 RCV004554602 RCV004724740

NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val)

SNV
Germline

Chr2:166054677

Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA256590

rs_121917953

3 SubmittersRCV000013744 RCV000059448 RCV000636336

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
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA256596

rs_121917955

4 SubmittersRCV000013746 RCV000059433 RCV001385324 RCV003992151

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

SNV
Germline

Chr2:166052882

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Early infantile epileptic encephalopathy with suppression bursts
Intellectual disability
Inborn genetic diseases
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA273115

rs_121918624

15 SubmittersRCV000032604 RCV000188841 RCV000763461 RCV001037392 RCV001257707 RCV002316194 RCV003388823

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

SNV
Germline

Chr2:166036521

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA281911

rs_121918625

4 SubmittersRCV000032605 RCV000794577

NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr)

SNV
Germline

Chr2:166012179

Pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA256602

rs_121918626

3 SubmittersRCV000013751 RCV000059501 RCV002513023

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

SNV
Germline

Chr2:165992149

Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA256611

rs_121918629

4 SubmittersRCV000013755 RCV000013754 RCV001296128

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

SNV
Germline

Chr2:165996099

Pathogenic

Migraine, familial hemiplegic, 3
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA256620

rs_121918632

6 SubmittersRCV000013765 RCV001090363 RCV001857344 RCV003992154

NM_172107.4(KCNQ2):c.1057C>G (p.Arg353Gly)

SNV
Germline

Chr20:63433870

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1

Criteria Provided
Single Submitter

rs_118192218

2 SubmittersRCV002513153 RCV000678053

NM_172107.4(KCNQ2):c.1076C>A (p.Thr359Lys)

SNV
Germline

Chr20:63433851

Pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_118192219

2 SubmittersRCV000678054 RCV000800574

NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter)

SNV
Germline

Chr20:63415086

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Seizure
Seizures, benign familial neonatal, 1
Inborn genetic diseases
Developmental and epileptic encephalopathy, 7

Criteria Provided
Multiple Submitters
No Conflicts

CA315443

rs_118192226

8 SubmittersRCV000187902 RCV000463586 RCV000720328 RCV000020970 RCV002316200 RCV003228898

NM_172107.4(KCNQ2):c.1525+1G>A

SNV
Germline

Chr20:63414902

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA342470

rs_118192228

3 SubmittersRCV000534709 RCV000678058

NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)

SNV
Germline

Chr20:63414174

Conflicting classifications of pathogenicity

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
not specified
Condition: not provided
Complex neurodevelopmental disorder

Criteria Provided
Conflicting Classifications

CA288924

rs_117067974

8 SubmittersRCV000020972 RCV000465560 RCV002313718 RCV000117341 RCV001703417 RCV003315295

NM_172107.4(KCNQ2):c.1632-1G>T

SNV
Germline

Chr20:63413582

Conflicting classifications of pathogenicity

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_118192233

3 SubmittersRCV000678108 RCV002513154

NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln)

SNV
Germline

Chr20:63413555

Pathogenic

Condition: not provided
Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7

Criteria Provided
Multiple Submitters
No Conflicts

CA315465

rs_118192234

6 SubmittersRCV000187913 RCV000678060 RCV001248564 RCV004798741

NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)

SNV
Germline

Chr20:63413472

Pathogenic

Condition: not provided
Seizures, benign familial neonatal, 1
Seizure
Early infantile epileptic encephalopathy with suppression bursts
KCNQ2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA315486

rs_118192236

8 SubmittersRCV000187920 RCV000678061 RCV004554609 RCV000636351 RCV003335050

NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln)

SNV
Germline

Chr20:63413471

Pathogenic/Likely pathogenic

Condition: not provided
Epileptic encephalopathy
Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA315489

rs_118192235

7 SubmittersRCV000187921 RCV000416983 RCV000678062 RCV000792605 RCV002399331 RCV003315296

NM_172107.4(KCNQ2):c.1A>G (p.Met1Val)

SNV
Germline

Chr20:63472463

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Seizures, benign familial neonatal, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA342485

rs_118192185

4 SubmittersRCV000552408 RCV000421973 RCV000678067

NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu)

SNV
Germline

Chr20:63406699

Conflicting classifications of pathogenicity

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_12481082

3 SubmittersRCV000678071 RCV001209553 RCV001582491

NM_172107.4(KCNQ2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr20:63472462

Pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_118192186

3 SubmittersRCV000678074 RCV001057270 RCV004696638

NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)

SNV
Germline

Chr20:63446769

Pathogenic/Likely pathogenic

Condition: not provided
Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7
KCNQ2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA315351

rs_118192194

8 SubmittersRCV000187851 RCV000678078 RCV000692591 RCV000763058 RCV002510564 RCV001270883

NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)

SNV
Germline

Chr20:63444762

Pathogenic

Developmental and epileptic encephalopathy, 7
Condition: not provided
KCNQ2-related disorder
Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_118192199

12 SubmittersRCV001030036 RCV001092637 RCV004528127 RCV000678083 RCV001066784 RCV003315300

NM_172107.4(KCNQ2):c.622A>G (p.Met208Val)

SNV
Germline

Chr20:63444727

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1

Criteria Provided
Single Submitter

rs_118192201

2 SubmittersRCV001221931 RCV000678086

NM_172107.4(KCNQ2):c.635A>G (p.Asp212Gly)

SNV
Germline

Chr20:63444714

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1
Complex neurodevelopmental disorder

Criteria Provided
Single Submitter

rs_118192202

3 SubmittersRCV001851984 RCV000678087 RCV003315301

NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)

SNV
Germline

Chr20:63444712

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA202848

rs_118192203

9 SubmittersRCV000187866 RCV000178400 RCV000234346 RCV000990336 RCV002354168

NM_172107.4(KCNQ2):c.684C>A (p.His228Gln)

SNV
Germline

Chr20:63444665

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1
Complex neurodevelopmental disorder

Criteria Provided
Single Submitter

rs_118192204

3 SubmittersRCV001226409 RCV000678089 RCV003315302

NM_172107.4(KCNQ2):c.727C>T (p.Leu243Phe)

SNV
Germline

Chr20:63442495

Pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder

Criteria Provided
Single Submitter

rs_118192205

3 SubmittersRCV000678090 RCV002513155 RCV003315303

NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly)

SNV
Germline

Chr20:63442473

Likely pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_118192206

2 SubmittersRCV000678093 RCV001047068

NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter)

SNV
Germline

Chr20:63442415

Pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA315395

rs_118192208

4 SubmittersRCV000678095 RCV001050636 RCV001267035 RCV000187877

NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp)

SNV
Germline

Chr20:63438651

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7
KCNQ2-related disorder
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA315400

rs_118192215

7 SubmittersRCV000187879 RCV000636293 RCV000678101 RCV003315224 RCV003315305

NM_172107.4(KCNQ2):c.998G>A (p.Arg333Gln)

SNV
Germline

Chr20:63438650

Pathogenic

Condition: not provided
Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA342542

rs_118192216

5 SubmittersRCV000413623 RCV000678102 RCV000813877 RCV003315306

NM_172107.4(KCNQ2):c.1764-6C>A

SNV
Germline

Chr20:63408542

Pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_118192239

2 SubmittersRCV000678110 RCV003588565

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

SNV
Germline

Chr2:165992269

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA281748

rs_397514458

2 SubmittersRCV000022764 RCV001379443

NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp)

SNV
Germline

Chr12:51806788

Pathogenic

Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder

Criteria Provided
Single Submitter

CA128948

rs_202151337

4 SubmittersRCV000023031 RCV001230237 RCV003992161

NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)

SNV
Germline

Chr20:63444711

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 7
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA130528

9 SubmittersRCV000032979 RCV000187867 RCV000698323 RCV000763452 RCV002354177

NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)

SNV
Germline

Chr16:56336744

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 17
Early infantile epileptic encephalopathy with suppression bursts
Microcephaly
Abnormality of the nervous system
Rare genetic intellectual disability
Neurodevelopmental disorder with involuntary movements
Developmental and epileptic encephalopathy, 17
GNAO1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA214450

15 SubmittersRCV000255097 RCV000056408 RCV000468248 RCV001252685 RCV001814039 RCV001256978 RCV000762963 RCV003421966

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
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA266086

rs_121917957

7 SubmittersRCV000059374 RCV000180936 RCV000188861 RCV001226020 RCV001775078

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

SNV
Germline

Chr2:166046970

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA284865

rs_121917929

2 SubmittersRCV000059376 RCV001036662

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

SNV
Germline

Chr2:166046970

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA284868

rs_121917929

10 SubmittersRCV000059377 RCV000188854 RCV000554304 RCV000857236 RCV002262611

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

SNV
Germline

Chr2:166046969

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Migraine, familial hemiplegic, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA284871

rs_121917927

15 SubmittersRCV000059378 RCV000188863 RCV000636386 RCV001198232

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA284874

rs_121917966

3 SubmittersRCV000059380 RCV002345371 RCV002514305

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

SNV
Germline

Chr2:166039577

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA284895

rs_121917941

2 SubmittersRCV000059390 RCV002513779

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

SNV
Germline

Chr2:166073371

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA284901

rs_121917964

4 SubmittersRCV000059392 RCV000255485 RCV000695650 RCV000763463

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

SNV
Germline

Chr2:166037885

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA284910

13 SubmittersRCV000059395 RCV000378734 RCV000543457 RCV001004709 RCV001264404 RCV002433566 RCV004595905

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

SNV
Germline

Chr2:166058652

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Migraine, familial hemiplegic, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA284919

rs_121917965

9 SubmittersRCV000059399 RCV000357692 RCV000541714 RCV001199316

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

SNV
Germline

Chr2:166058651

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
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

CA273119

rs_121917918

10 SubmittersRCV000059400 RCV000188829 RCV000550639 RCV001197275 RCV004796001

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

SNV
Germline

Chr2:166013829

Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA284925

rs_121917963

3 SubmittersRCV000059403 RCV000818870 RCV002054912

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

SNV
Germline

Chr2:166013752

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA284928

rs_121917911

2 SubmittersRCV000059404 RCV001344646

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
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA234849

rs_121917973

7 SubmittersRCV000059405 RCV000723903 RCV001476333 RCV001836728

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

SNV
Germline

Chr2:166012254

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA284931

rs_121917912

6 SubmittersRCV000059406 RCV000188926 RCV000636387 RCV001836729 RCV004796002

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
Early infantile epileptic encephalopathy with suppression bursts
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA231476

rs_121917910

14 SubmittersRCV000059407 RCV000118242 RCV000188828 RCV001080063 RCV001133131 RCV001133132 RCV002313742 RCV004542732

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

SNV
Germline

Chr2:166002753

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA284934

rs_121917960

4 SubmittersRCV000059408 RCV001202491 RCV003352765

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

SNV
Germline

Chr2:166002588

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA284940

rs_121917986

8 SubmittersRCV000059411 RCV000254970 RCV000804975 RCV002326783

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

SNV
Germline

Chr2:166002570

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA284943

rs_121917987

2 SubmittersRCV000059412 RCV002513780

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

SNV
Germline

Chr2:166002491

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA284949

rs_121917913

3 SubmittersRCV000059414 RCV001048734 RCV005000993

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

SNV
Germline

Chr2:165998162

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA284961

rs_121917945

4 SubmittersRCV000059418 RCV000812820 RCV003224861

NM_001165963.4(SCN1A):c.4439G>T (p.Gly1480Val)

SNV
Germline

Chr2:165998075

Pathogenic

Myoclonic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA145243

rs_121917996

2 SubmittersRCV000059423 RCV003588568

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

SNV
Germline

Chr2:165994365

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA284976

rs_121917975

4 SubmittersRCV000059425 RCV001069069 RCV001249684

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA284979

rs_121917919

3 SubmittersRCV000059426 RCV000188974 RCV000636318

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

SNV
Germline

Chr2:165994212

Pathogenic/Likely pathogenic

Focal epilepsy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Autosomal dominant epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA145250

rs_121917993

10 SubmittersRCV000059427 RCV000188978 RCV000794558 RCV001031013 RCV001253159 RCV002265592

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

SNV
Germline

Chr2:165994176

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Delayed speech and language development
Seizure
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA284982

rs_121917915

6 SubmittersRCV000059428 RCV000584823 RCV000636349 RCV005000994

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

SNV
Germline

Chr2:165992387

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA284988

rs_121917914

3 SubmittersRCV000059430 RCV001339387 RCV001781396

NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)

SNV
Germline

Chr2:165992368

Pathogenic/Likely pathogenic

Macrocephaly and epileptic encephalopathy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA145253

rs_121917995

8 SubmittersRCV000059431 RCV000176634 RCV000463147 RCV000623263 RCV002281560 RCV003448258

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

SNV
Germline

Chr2:165992341

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA284991

rs_121917976

8 SubmittersRCV000059432 RCV000188986 RCV000763457 RCV001198988 RCV001208285 RCV002316217

NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His)

SNV
Germline

Chr2:165992305

Pathogenic/Likely pathogenic

Focal epilepsy
Autism
Focal-onset seizure
Microcephaly
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA145256

rs_121917994

5 SubmittersRCV000059434 RCV001003955 RCV001229900 RCV004786353 RCV004760364

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

SNV
Germline

Chr2:165991957

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA285015

rs_121917951

2 SubmittersRCV000059443 RCV000693267

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

SNV
Germline

Chr2:165991936

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA285018

rs_121917952

2 SubmittersRCV000059444 RCV001854242

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

SNV
Germline

Chr2:165991928

Pathogenic

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

CA285021

rs_121917980

10 SubmittersRCV000059445 RCV000188999 RCV001240035 RCV001849308 RCV002468563 RCV002490666

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

SNV
Germline

Chr2:165991927

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285024

rs_121917921

6 SubmittersRCV000059446 RCV000189000 RCV001207693

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

SNV
Germline

Chr2:166054660

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA285033

rs_121917935

10 SubmittersRCV000059451 RCV000522680 RCV000636440 RCV004019070

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

SNV
Germline

Chr2:166052896

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA285039

rs_121917936

2 SubmittersRCV000059453 RCV002513781

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

SNV
Germline

Chr2:166052869

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA285042

rs_121917984

16 SubmittersRCV000059454 RCV000188843 RCV000558296 RCV000763460 RCV001003956 RCV001420531 RCV002470755 RCV003764743

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

SNV
Germline

Chr2:166052866

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285045

rs_121917937

7 SubmittersRCV000059455 RCV000188842 RCV000636408

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

SNV
Germline

Chr2:166051968

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285048

rs_121917985

3 SubmittersRCV000059456 RCV003588569

NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr)

SNV
Germline

Chr2:166073542

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 1
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA266095

rs_121917906

5 SubmittersRCV000059458 RCV000585038 RCV001453714 RCV002415520

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

SNV
Germline

Chr2:166051845

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285054

rs_121917938

3 SubmittersRCV000059459 RCV003588570

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

SNV
Germline

Chr2:166048949

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA285057

rs_121917928

2 SubmittersRCV000059460 RCV000808399

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

SNV
Germline

Chr2:166048886

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA285060

rs_121918753

3 SubmittersRCV000059461 RCV001390614 RCV002381374

NM_001165963.4(SCN1A):c.1162T>C (p.Tyr388His)

SNV
Germline

Chr2:166047635

Pathogenic

Generalized epilepsy with febrile seizures plus, type 1
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA266098

rs_121918781

3 SubmittersRCV000059462 RCV000518904 RCV001854243

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

SNV
Germline

Chr2:166046931

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA248047

rs_121918768

4 SubmittersRCV000059463 RCV000180562 RCV002514306

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

SNV
Germline

Chr2:166045080

Conflicting classifications of pathogenicity

Autism
not specified
Early infantile epileptic encephalopathy with suppression bursts
Epilepsy
Severe myoclonic epilepsy in infancy
Childhood epilepsy with centrotemporal spikes
Severe myoclonic epilepsy in infancy
Intellectual disability
Condition: not provided
Inborn genetic diseases
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA234872

rs_121918817

16 SubmittersRCV000059464 RCV000118239 RCV000475058 RCV000578859 RCV000655983 RCV000789040 RCV001252611 RCV001705717 RCV002316218 RCV004537265

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

SNV
Germline

Chr2:166041277

Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 1
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA266101

rs_121918782

3 SubmittersRCV000059466 RCV002514307 RCV003992173

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

SNV
Germline

Chr2:166039427

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285069

rs_121918785

6 SubmittersRCV000059469 RCV000591357 RCV000798343

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

SNV
Germline

Chr2:166058681

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA285081

rs_121918734

4 SubmittersRCV000059474 RCV000819332 RCV003157390

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

SNV
Germline

Chr2:166037931

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
SCN1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273369

rs_121918788

7 SubmittersRCV000059475 RCV000188897 RCV000636409 RCV004542733

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

SNV
Germline

Chr2:166037891

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA285093

rs_121917969

2 SubmittersRCV000059479 RCV000636356

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA269785

rs_121918775

10 SubmittersRCV000059481 RCV000118240 RCV000189085 RCV000636276

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

SNV
Germline

Chr2:166037862

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA285102

rs_121918786

2 SubmittersRCV000059483 RCV001054726

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

SNV
Germline

Chr2:166037847

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285105

rs_121918796

4 SubmittersRCV000059484 RCV001387943

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

SNV
Germline

Chr2:166037844

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA285108

rs_121918750

3 SubmittersRCV000059485 RCV000817420 RCV002247464

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285126

rs_121918745

3 SubmittersRCV000059492 RCV000433130 RCV001854244

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

SNV
Germline

Chr2:166015636

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA221580

rs_121918799

15 SubmittersRCV000059493 RCV000188915 RCV000296106 RCV000415355 RCV000655982 RCV000723551 RCV000986890 RCV001082811 RCV001129578 RCV002313744 RCV004537267

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

SNV
Germline

Chr2:166012128

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285150

rs_121918740

3 SubmittersRCV000059502 RCV001385513

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
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA266111

rs_121918801

4 SubmittersRCV000059503 RCV000188936 RCV001786331 RCV001220193

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
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Severe myoclonic epilepsy in infancy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA266114

rs_121918805

6 SubmittersRCV000059506 RCV001381481 RCV001719807 RCV003989315 RCV004668767

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

SNV
Germline

Chr2:165999763

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285162

rs_121918741

4 SubmittersRCV000059509 RCV000521069 RCV001067468

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285165

rs_121918789

4 SubmittersRCV000059510 RCV001091662 RCV001253411 RCV001854245

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA285177

rs_121918764

3 SubmittersRCV000059514 RCV000517134 RCV001296129

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
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA219777

rs_121918807

9 SubmittersRCV000059515 RCV000986874 RCV001513378 RCV004955268

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

SNV
Germline

Chr2:165994241

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285180

rs_121918742

3 SubmittersRCV000059516 RCV003588571

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

SNV
Germline

Chr2:165994164

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
11 conditions
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA285183

rs_121918808

5 SubmittersRCV000059517 RCV000735365 RCV002054913 RCV002336219

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

SNV
Germline

Chr2:165992333

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285189

rs_121918791

5 SubmittersRCV000059520 RCV003233101 RCV003588572

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA266117

rs_121918811

5 SubmittersRCV000059522 RCV001171717 RCV001711166 RCV003992175 RCV003588573

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

SNV
Germline

Chr2:165992302

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285192

rs_121917922

4 SubmittersRCV000059523 RCV000529623

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

SNV
Germline

Chr2:165992221

Pathogenic

Generalized epilepsy with febrile seizures plus, type 1
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA266120

rs_121918744

3 SubmittersRCV000059528 RCV001854246 RCV003992176

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

SNV
Germline

Chr2:165992200

Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285207

rs_121918778

3 SubmittersRCV000059529 RCV002514308

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

SNV
Germline

Chr2:165992194

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
not specified
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA285210

rs_121918777

4 SubmittersRCV000059530 RCV000465483 RCV000501085 RCV004734623

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

SNV
Germline

Chr2:166054717

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA285225

rs_121918767

2 SubmittersRCV000059536 RCV001062878

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

SNV
Germline

Chr2:166054710

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA285231

rs_121918770

3 SubmittersRCV000059538 RCV001246264

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
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA266126

rs_121918813

4 SubmittersRCV000059540 RCV000489760 RCV000792317 RCV000764284

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
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA266129

rs_121918783

5 SubmittersRCV000059544 RCV000180879 RCV001854247

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

SNV
Germline

Chr2:166054672

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285246

rs_121918773

4 SubmittersRCV000059548 RCV001854248

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA285249

rs_121918793

5 SubmittersRCV000059549 RCV000494436 RCV000705871

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

SNV
Germline

Chr2:165991405

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA213190

rs_121918802

9 SubmittersRCV000059551 RCV000416094 RCV000537890 RCV000764283 RCV002247465 RCV004019071

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
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA285264

rs_121918771

5 SubmittersRCV000059555 RCV000997286 RCV001129824 RCV001129823 RCV001393043

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
Early infantile epileptic encephalopathy with suppression bursts
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA357173

rs_139300715

5 SubmittersRCV000209885 RCV000494091 RCV000702992 RCV004528267

NM_172107.4(KCNQ2):c.1381C>T (p.Gln461Ter)

SNV
Germline

Chr20:63415047

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_267606051

1 SubmittersRCV002876411

NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=)

SNV
Germline

Chr2:166047666

Conflicting classifications of pathogenicity

Epilepsy
Migraine, familial hemiplegic, 3
not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA302682

rs_114137271

10 SubmittersRCV000286506 RCV000341456 RCV000173037 RCV001080015 RCV000470130 RCV001129821 RCV002313758

NM_001165963.4(SCN1A):c.135C>T (p.Asp45=)

SNV
Germline

Chr2:166073487

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
not specified

Criteria Provided
Conflicting Classifications

CA221559

rs_201985242

4 SubmittersRCV000079556 RCV001395407 RCV004586542

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA266829

rs_398123585

7 SubmittersRCV000174048 RCV000255527 RCV000515441 RCV000557283

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

SNV
Germline

Chr2:166039436

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA266833

rs_398123588

8 SubmittersRCV000255810 RCV000546041 RCV000781835 RCV002247477 RCV002274894 RCV003992180 RCV004537326

NM_001165963.4(SCN1A):c.2716G>A (p.Val906Met)

SNV
Germline

Chr2:166038006

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA221572

rs_185760342

3 SubmittersRCV000188894 RCV000686144

NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)

SNV
Germline

Chr2:166012212

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA285448

rs_398123591

6 SubmittersRCV000079577 RCV000701047 RCV002345392 RCV003155068

NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro)

SNV
Germline

Chr2:166012171

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA221583

rs_398123592

3 SubmittersRCV000079579 RCV003753084

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

SNV
Germline

Chr2:166002537

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA266841

rs_398123593

6 SubmittersRCV000079581 RCV000636415 RCV001509554 RCV002316233

NM_001165963.4(SCN1A):c.4446C>T (p.Ile1482=)

SNV
Germline

Chr2:165998068

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA221591

rs_398123596

2 SubmittersRCV000079584 RCV001463415

NM_001165963.4(SCN1A):c.4584C>A (p.Asn1528Lys)

SNV
Germline

Chr2:165994414

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA221595

rs_398123597

3 SubmittersRCV000723573 RCV001854405

NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)

SNV
Germline

Chr2:165994267

Conflicting classifications of pathogenicity

not specified
Epilepsy
Migraine, familial hemiplegic, 3
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA221603

rs_145296488

10 SubmittersRCV000186657 RCV000262326 RCV000301218 RCV000528820 RCV001129477 RCV001311212 RCV002316234

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
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA221611

rs_146733308

8 SubmittersRCV000723619 RCV000764282 RCV001080157 RCV002313760 RCV004542757

NM_001165963.4(SCN1A):c.597A>G (p.Thr199=)

SNV
Germline

Chr2:166054643

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA221615

rs_398123600

3 SubmittersRCV000079594 RCV001434038

NM_001165963.4(SCN1A):c.694+10A>G

SNV
Germline

Chr2:166052842

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA221619

rs_373417440

6 SubmittersRCV000188813 RCV000723543 RCV001082385

NM_001165963.4(SCN1A):c.83G>A (p.Arg28His)

SNV
Germline

Chr2:166073539

Conflicting classifications of pathogenicity

Condition: not provided
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA221620

rs_398123601

5 SubmittersRCV000079597 RCV001133438 RCV001133439 RCV001854406 RCV004545745

NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu)

SNV
Germline

Chr9:127672091

Conflicting classifications of pathogenicity

Condition: not provided
West syndrome
Developmental and epileptic encephalopathy, 4
Cerebellar vermis hypoplasia
Congenital cerebellar hypoplasia
STXBP1-related neurodevelopmental disorder
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA221967

rs_398123695

5 SubmittersRCV000080077 RCV000779645 RCV001258011 RCV001795096 RCV002514407

NM_139318.5(KCNH5):c.980G>A (p.Arg327His)

SNV
Germline

Chr14:62950522

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy 112
Condition: not provided
Inborn genetic diseases
Developmental and epileptic encephalopathy, 12

Criteria Provided
Multiple Submitters
No Conflicts

CA228965

rs_587777164

6 SubmittersRCV000701370 RCV003448263 RCV000087147 RCV003162518 RCV003334350

NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)

SNV
Germline

Chr20:63442428

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 7
Condition: not provided
KCNQ2-related disorder
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Intellectual disability
Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

CA150769

rs_587777219

14 SubmittersRCV000106299 RCV000187868 RCV000578260 RCV001056302 RCV002316289 RCV001089803 RCV000768250 RCV004546432

NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)

SNV
Germline/somatic

Chr9:127668132

Pathogenic

Developmental and epileptic encephalopathy, 4
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA151362

rs_587777310

6 SubmittersRCV000114939 RCV000440506 RCV000525775

NM_172107.4(KCNQ2):c.2316G>A (p.Pro772=)

SNV
Germline

Chr20:63406947

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA231195

rs_587780367

3 SubmittersRCV000117338 RCV001406364

NM_172107.4(KCNQ2):c.795G>A (p.Ala265=)

SNV
Germline

Chr20:63442427

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
KCNQ2-related disorder

Criteria Provided
Conflicting Classifications

CA231199

rs_148654588

5 SubmittersRCV000117339 RCV001088466 RCV002415601 RCV004542842

NM_172107.4(KCNQ2):c.1800G>A (p.Thr600=)

SNV
Germline

Chr20:63408500

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA231201

rs_587780368

2 SubmittersRCV000117343 RCV002055279

NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=)

SNV
Germline

Chr2:165992388

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA231472

rs_587780445

8 SubmittersRCV000118237 RCV000247803 RCV001505725 RCV002336256

NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys)

SNV
Germline

Chr12:51769039

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA289034

rs_117217073

11 SubmittersRCV000118280 RCV000226089 RCV000992912 RCV001089736 RCV002312498

NM_001330260.2(SCN8A):c.3158T>G (p.Ile1053Ser)

SNV
Germline

Chr12:51769121

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA231493

rs_587780453

2 SubmittersRCV000118281 RCV000820334

NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr)

SNV
Germline

Chr12:51794594

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA231495

rs_201458257

9 SubmittersRCV000118284 RCV000239732 RCV001086391 RCV002313921

NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)

SNV
Germline

Chr12:51807116

Pathogenic/Likely pathogenic

Condition: not provided
Seizures, benign familial infantile, 5
Developmental and epileptic encephalopathy, 13
Focal epilepsy
Early infantile epileptic encephalopathy with suppression bursts
Seizure
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA289040

rs_587780455

15 SubmittersRCV000118288 RCV000239702 RCV000239630 RCV000416967 RCV000467598 RCV002274920 RCV003992186

NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln)

SNV
Germline

Chr1:43930172

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 15
Intellectual disability, autosomal recessive 12
Early infantile epileptic encephalopathy with suppression bursts
ST3GAL3-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA231532

rs_553120567

6 SubmittersRCV000118417 RCV000768326 RCV001088458 RCV003975045 RCV002415604

NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)

SNV
Germline

Chr12:51765675

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 13
Condition: not provided
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts
Cognitive impairment with or without cerebellar ataxia
Developmental and epileptic encephalopathy, 13
Seizures, benign familial infantile, 5
Cognitive impairment with or without cerebellar ataxia
West syndrome
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA163107

17 SubmittersRCV000122729 RCV000189267 RCV000624041 RCV000803456 RCV001249685 RCV003224864 RCV003488395 RCV003992189

NM_172107.4(KCNQ2):c.1301+7C>T

SNV
Germline

Chr20:63419612

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA291792

rs_374877247

4 SubmittersRCV000126457 RCV000726412 RCV001086609

NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=)

SNV
Germline

Chr20:63408473

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA291806

rs_369438374

5 SubmittersRCV000126467 RCV000513235 RCV001085339 RCV002408631

NM_001165963.4(SCN1A):c.333A>G (p.Leu111=)

SNV
Germline

Chr2:166058620

Conflicting classifications of pathogenicity

not specified
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Epilepsy

Criteria Provided
Conflicting Classifications

CA293157

rs_201592683

4 SubmittersRCV000127871 RCV000313741 RCV001133437 RCV001452799 RCV003430696 RCV000390078

NM_001165963.4(SCN1A):c.1378-3T>C

SNV
Germline

Chr2:166045330

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Inborn genetic diseases
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA293161

rs_150964803

10 SubmittersRCV000127874 RCV000469921 RCV001134809 RCV001134810 RCV001529594 RCV002316401 RCV004544285

NM_001165963.4(SCN1A):c.2292T>A (p.Val764=)

SNV
Germline

Chr2:166041354

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA293166

rs_6432860

2 SubmittersRCV000127878 RCV001849911

NM_001165963.4(SCN1A):c.3498G>A (p.Gln1166=)

SNV
Germline

Chr2:166015659

Conflicting classifications of pathogenicity

not specified
Migraine, familial hemiplegic, 3
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA293171

rs_145410000

3 SubmittersRCV000127881 RCV001129580 RCV002055788 RCV001129581

NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=)

SNV
Germline

Chr2:165996037

Conflicting classifications of pathogenicity

not specified
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
SCN1A-related disorder
Condition: not provided
Migraine, familial hemiplegic, 3

Criteria Provided
Conflicting Classifications

CA293192

rs_368785509

7 SubmittersRCV000127890 RCV001132197 RCV001436209 RCV002312926 RCV004544287 RCV000636510 RCV001132198

NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=)

SNV
Germline

Chr2:165992403

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA232571

rs_142910512

6 SubmittersRCV000186658 RCV000723902 RCV001129475 RCV001129476 RCV001084098 RCV002312927

NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=)

SNV
Germline

Chr11:794790

Conflicting classifications of pathogenicity

not specified
Early myoclonic encephalopathy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
SLC25A22-related disorder

Criteria Provided
Conflicting Classifications

CA293510

rs_146402942

11 SubmittersRCV000128075 RCV000366300 RCV000725655 RCV001083324 RCV002316410 RCV003915273

NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)

SNV
Germline

Chr11:794509

Conflicting classifications of pathogenicity

Early myoclonic encephalopathy
not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases
SLC25A22-related disorder

Criteria Provided
Conflicting Classifications

CA173468

rs_116134953

9 SubmittersRCV000147503 RCV000178365 RCV000472638 RCV001507783 RCV002316411 RCV003915274

NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=)

SNV
Germline

Chr11:792955

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA293515

rs_141975755

5 SubmittersRCV000128079 RCV000725933 RCV001085403 RCV002312935

NM_001191061.2(SLC25A22):c.413-12C>T

SNV
Germline

Chr11:792739

Conflicting classifications of pathogenicity

not specified
Early myoclonic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA293518

rs_587781169

3 SubmittersRCV000128080 RCV000300300 RCV002055805

NM_001191061.2(SLC25A22):c.413-8G>C

SNV
Germline

Chr11:792735

Conflicting classifications of pathogenicity

not specified
Early myoclonic encephalopathy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA173479

rs_376015598

6 SubmittersRCV000128081 RCV000147509 RCV000725287 RCV001086628

NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=)

SNV
Germline

Chr11:792645

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early myoclonic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA293519

rs_374780430

9 SubmittersRCV000128083 RCV000713312 RCV001110855 RCV001083301 RCV002316412

NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=)

SNV
Germline

Chr11:792570

Conflicting classifications of pathogenicity

not specified
Early myoclonic encephalopathy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 3
Inborn genetic diseases
SLC25A22-related disorder

Criteria Provided
Conflicting Classifications

CA232575

rs_145322467

11 SubmittersRCV000186659 RCV000287522 RCV000713313 RCV001083398 RCV001803010 RCV002312936 RCV003925269

NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)

SNV
Germline

Chr11:792555

Conflicting classifications of pathogenicity

not specified
Early myoclonic encephalopathy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
SLC25A22-related disorder

Criteria Provided
Conflicting Classifications

CA232578

rs_147840220

10 SubmittersRCV000186660 RCV000381855 RCV000713314 RCV001086464 RCV002354321 RCV003915275

NM_001191061.2(SLC25A22):c.743-12C>T

SNV
Germline

Chr11:792229

Conflicting classifications of pathogenicity

not specified
Early myoclonic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA293526

rs_200517971

3 SubmittersRCV000128089 RCV001114123 RCV002055807

NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)

SNV
Germline

Chr11:792011

Conflicting classifications of pathogenicity

not specified
Early myoclonic encephalopathy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Developmental and epileptic encephalopathy, 3
SLC25A22-related disorder

Criteria Provided
Conflicting Classifications

CA295159

rs_146300431

11 SubmittersRCV000147514 RCV000301063 RCV000725476 RCV001084573 RCV002316413 RCV003224164 RCV003952677

NM_001130438.3(SPTAN1):c.2011+10G>A

SNV
Germline

Chr9:128583291

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA232582

rs_377437879

4 SubmittersRCV000186665 RCV000724563 RCV001079430 RCV001808359

NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=)

SNV
Germline

Chr9:128585797

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA293719

rs_138101005

6 SubmittersRCV000128239 RCV000416227 RCV001084036 RCV001808362 RCV002316418

NM_001130438.3(SPTAN1):c.5478+12G>A

SNV
Germline

Chr9:128617772

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA173580

rs_41275900

5 SubmittersRCV000128261 RCV000147638 RCV002055826 RCV003430700

NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=)

SNV
Germline

Chr9:128625933

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Bilateral tonic-clonic seizure
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA303013

rs_147132904

8 SubmittersRCV000178648 RCV000560348 RCV000678850 RCV001808385 RCV002312946 RCV003430702

NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=)

SNV
Germline

Chr9:128626609

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA173591

rs_72758823

10 SubmittersRCV000128270 RCV000726217 RCV001083179 RCV001808386 RCV002312947

NM_001130438.3(SPTAN1):c.7161-9C>T

SNV
Germline

Chr9:128632799

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy, 5
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
SPTAN1-related disorder

Criteria Provided
Conflicting Classifications

CA173599

rs_187613754

8 SubmittersRCV000128277 RCV000147658 RCV000725332 RCV001086915 RCV004551233

NM_001130438.3(SPTAN1):c.7161-8G>A

SNV
Germline

Chr9:128632800

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA293760

rs_202180736

5 SubmittersRCV000128278 RCV000727497 RCV001808392 RCV001084816

NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=)

SNV
Germline

Chr9:127682538

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA173634

rs_201809337

5 SubmittersRCV000128322 RCV000147702 RCV000863608 RCV002316426 RCV004597748

NM_001032221.6(STXBP1):c.1702+10C>T

SNV
Germline

Chr9:127682570

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA293799

rs_147607230

7 SubmittersRCV000128323 RCV000230027 RCV000616011 RCV003430704

NM_021072.4(HCN1):c.299C>T (p.Ser100Phe)

SNV
Germline

Chr5:45695795

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 24
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA163272

rs_587777492

3 SubmittersRCV000128459 RCV001054783 RCV003448268

NM_021072.4(HCN1):c.835C>T (p.His279Tyr)

SNV
Germline

Chr5:45645199

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 24
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA163275

rs_587777495

3 SubmittersRCV000128462 RCV003588579

NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)

SNV
Germline

Chr12:51806336

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
developmental delay with seizures
Developmental and epileptic encephalopathy, 13
Inborn genetic diseases
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA170757

rs_587777721

8 SubmittersRCV000522954 RCV000636307 RCV000678845 RCV000144154 RCV001266283 RCV003992195

NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)

SNV
Germline

Chr9:127666236

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA173637

rs_587784453

4 SubmittersRCV000147705 RCV000636306 RCV001265418

NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=)

SNV
Germline

Chr9:128580987

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA173537

rs_587784431

4 SubmittersRCV000147606 RCV000862828 RCV003430711

NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln)

SNV
Germline

Chr9:128582740

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA173544

rs_370304886

5 SubmittersRCV000147610 RCV001365805 RCV001588995

NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)

SNV
Germline

Chr9:128588826

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA173556

rs_34654141

7 SubmittersRCV000724445 RCV000147620 RCV001080124 RCV002433635

NM_001130438.3(SPTAN1):c.3415-9G>T

SNV
Germline

Chr9:128598391

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 5
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA173560

rs_199802986

4 SubmittersRCV000147624 RCV001704071 RCV000459404

NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)

SNV
Germline

Chr9:128607904

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 5
Condition: not provided
Inborn genetic diseases
SPTAN1-related disorder
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA173568

rs_143108250

8 SubmittersRCV000147630 RCV000713513 RCV002316952 RCV004551283 RCV001085811

NM_001130438.3(SPTAN1):c.5149-10C>T

SNV
Germline

Chr9:128615622

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 5
not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA173575

rs_587784437

4 SubmittersRCV000147634 RCV000189467 RCV002055933

NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=)

SNV
Germline

Chr9:128626609

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided
Developmental and epileptic encephalopathy, 5
SPTAN1-related disorder

Criteria Provided
Conflicting Classifications

CA173589

rs_72758823

8 SubmittersRCV000420949 RCV001088259 RCV002312981 RCV000713521 RCV000147646 RCV004737228

NM_001130438.3(SPTAN1):c.6763-7C>T

SNV
Germline

Chr9:128632120

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA173596

rs_587784439

2 SubmittersRCV000147654 RCV002514842

NM_001130438.3(SPTAN1):c.7309-15T>C

SNV
Germline

Chr9:128633194

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA173600

rs_370705867

4 SubmittersRCV001668298 RCV000147659 RCV002055934

NM_001191061.2(SLC25A22):c.897C>T (p.Phe299=)

SNV
Germline

Chr11:791990

Conflicting classifications of pathogenicity

Early myoclonic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
SLC25A22-related disorder

Criteria Provided
Conflicting Classifications

CA173489

rs_7124179

5 SubmittersRCV000147515 RCV000863215 RCV001527880 RCV003905273

NM_001191061.2(SLC25A22):c.474C>T (p.Pro158=)

SNV
Germline

Chr11:792666

Conflicting classifications of pathogenicity

Early myoclonic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA173483

rs_556959164

2 SubmittersRCV000147511 RCV002055931

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

SNV
Germline

Chr2:166036493

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA234856

rs_727504138

4 SubmittersRCV000153892 RCV002516100 RCV004760399

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

SNV
Germline

Chr2:166012255

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA273365

rs_727504136

8 SubmittersRCV000153888 RCV000188925 RCV001040173 RCV002492580 RCV002316972

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

SNV
Germline

Chr2:166043973

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234868

rs_544692790

6 SubmittersRCV000471353 RCV000515440 RCV000710209 RCV002408682 RCV004998305

NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)

SNV
Germline

Chr20:63439704

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1
Complex neurodevelopmental disorder
West syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA278569

rs_727503974

16 SubmittersRCV000153394 RCV000203603 RCV000636323 RCV002281562 RCV003315308 RCV003488401

NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=)

SNV
Germline

Chr20:63408458

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA234146

rs_552807375

4 SubmittersRCV000585559 RCV001087876 RCV002312679

NM_001165963.4(SCN1A):c.2590-2A>G

SNV
Germline

Chr2:166038134

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA273372

rs_727504140

2 SubmittersRCV000153895 RCV001382716

NM_001165963.4(SCN1A):c.1818T>C (p.Asp606=)

SNV
Germline

Chr2:166043894

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA234864

rs_727504141

2 SubmittersRCV000153899 RCV000636569

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA234876

rs_727504142

3 SubmittersRCV000153902 RCV000180927 RCV001362206

NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=)

SNV
Germline

Chr12:51769023

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA234891

rs_528718802

3 SubmittersRCV000153911 RCV000723923 RCV002056044

NM_001032221.6(STXBP1):c.1029+1G>T

SNV
Germline

Chr9:127672117

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA234988

rs_727504173

3 SubmittersRCV000595386 RCV001726006 RCV002514965

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

Criteria Provided
Multiple Submitters
No Conflicts

CA303237

rs_794726739

7 SubmittersRCV000180848 RCV000189004 RCV000995637 RCV000805798 RCV002505227 RCV002281566

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

SNV
Germline

Chr2:165991619

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303286

rs_779614747

5 SubmittersRCV000189014 RCV000180864 RCV000692766

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

SNV
Germline

Chr2:165992053

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303327

rs_794726763

3 SubmittersRCV000180878 RCV000188996 RCV002516537

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

SNV
Germline

Chr2:165992278

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303314

rs_794726760

3 SubmittersRCV000180874 RCV002515208

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303310

rs_794726759

7 SubmittersRCV000180873 RCV001090360 RCV001580464 RCV001813764 RCV001850418

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

SNV
Germline

Chr2:165992369

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA303158

rs_199727342

7 SubmittersRCV000180823 RCV000188982 RCV000804066 RCV003128152

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

SNV
Germline

Chr2:165994187

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303425

rs_794726800

2 SubmittersRCV000180918 RCV002515211

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

SNV
Germline

Chr2:165996021

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Migraine, familial hemiplegic, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA303282

rs_794726752

7 SubmittersRCV000180863 RCV000188962 RCV001382664 RCV002221506

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

SNV
Germline

Chr2:165998102

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303462

rs_794726809

3 SubmittersRCV000180931 RCV002516539

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

SNV
Germline

Chr2:165998163

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303087

rs_794726696

2 SubmittersRCV000180797 RCV002517630

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

SNV
Germline

Chr2:166002670

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303364

rs_794726779

2 SubmittersRCV000180895 RCV002515210

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

SNV
Germline

Chr2:166002701

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA303491

rs_794726821

3 SubmittersRCV000180946 RCV001219498 RCV002272155

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

SNV
Germline

Chr2:166009843

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303483

rs_794726816

2 SubmittersRCV000180941 RCV000707470

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303258

rs_794726744

3 SubmittersRCV000180854 RCV001727612 RCV001385514

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

SNV
Germline

Chr2:166013788

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303606

rs_794726854

2 SubmittersRCV000180987 RCV001035456

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

SNV
Germline

Chr2:166013812

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Seizure
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Migraine, familial hemiplegic, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA303131

rs_794726710

10 SubmittersRCV000189082 RCV000180814 RCV000585684 RCV000808766 RCV002453572 RCV002281564

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

SNV
Germline

Chr2:166036371

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303458

rs_542420576

3 SubmittersRCV000180930 RCV000636324 RCV003441770

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

SNV
Germline

Chr2:166037775

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303354

rs_794726772

3 SubmittersRCV000180888 RCV000188902 RCV001850419

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

SNV
Germline

Chr2:166037786

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303559

rs_794726842

2 SubmittersRCV000180972 RCV002515213

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

SNV
Germline

Chr2:166037930

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303413

rs_794726718

2 SubmittersRCV000180915 RCV001376917

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

SNV
Germline

Chr2:166037930

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Migraine, familial hemiplegic, 3

Reviewed By Expert Panel

CA303154

rs_794726718

7 SubmittersRCV000180822 RCV000412755 RCV000457088 RCV000763459 RCV002281565

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

SNV
Germline

Chr2:166038032

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303322

rs_794726761

2 SubmittersRCV000180876 RCV002515209

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

SNV
Germline

Chr2:166038129

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Seizure
SCN1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA303091

rs_794726697

8 SubmittersRCV000180798 RCV000423112 RCV000530080 RCV001786337 RCV004725018

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

SNV
Germline

Chr2:166039420

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA303357

rs_794726775

14 SubmittersRCV000180891 RCV000188876 RCV000554065 RCV003224181

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

SNV
Germline

Chr2:166039428

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA275003

rs_397514459

7 SubmittersRCV000174713 RCV000174714 RCV001850416

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

SNV
Germline

Chr2:166041293

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303300

rs_767045134

3 SubmittersRCV000180869 RCV001071061

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

SNV
Germline

Chr2:166041343

Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Reviewed By Expert Panel

CA303333

rs_794726766

5 SubmittersRCV000180882 RCV001344647 RCV003482238

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

SNV
Germline

Chr2:166041433

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303442

rs_794726742

3 SubmittersRCV000180923 RCV000578911 RCV002515212

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

SNV
Germline

Chr2:166042334

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274966

rs_794726730

16 SubmittersRCV000174291 RCV000188886 RCV000534243 RCV001004670 RCV001527645 RCV001824659 RCV002515207 RCV004535158

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

SNV
Germline

Chr2:166043878

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303360

rs_794726778

4 SubmittersRCV000180894 RCV000699982

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

SNV
Germline

Chr2:166043974

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
SCN1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA303224

rs_794726736

7 SubmittersRCV000180844 RCV000254957 RCV000544887 RCV004528926

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

SNV
Germline

Chr2:166045040

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303355

rs_794726773

2 SubmittersRCV000180889 RCV001850420

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

SNV
Germline

Chr2:166045081

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA303104

7 SubmittersRCV000180802 RCV000188870 RCV000636424 RCV001004730 RCV002313015

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

SNV
Germline

Chr2:166045189

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303393

rs_794726790

3 SubmittersRCV000180906 RCV001850421 RCV004696866

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

SNV
Germline

Chr2:166046888

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA303506

rs_794726826

2 SubmittersRCV000180952 RCV001850422

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

SNV
Germline

Chr2:166047651

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303290

rs_794726753

2 SubmittersRCV000180865 RCV001850417

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

SNV
Germline

Chr2:166047668

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

CA303421

rs_794726799

9 SubmittersRCV000180917 RCV000423099 RCV000529401 RCV002274946

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

SNV
Germline

Chr2:166047721

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA303143

rs_794726713

6 SubmittersRCV000180817 RCV000329798 RCV001377988 RCV004965289

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

SNV
Germline

Chr2:166047751

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303567

rs_794726844

2 SubmittersRCV000180974 RCV003588585

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

SNV
Germline

Chr2:166047764

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303376

rs_794726782

2 SubmittersRCV000180898 RCV002516538

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

SNV
Germline

Chr2:166048907

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303417

rs_794726798

3 SubmittersRCV000180916 RCV003588584

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

SNV
Germline

Chr2:166048950

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA303503

rs_794726824

5 SubmittersRCV000180949 RCV000188853 RCV000551280 RCV002381539

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

SNV
Germline

Chr2:166054637

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303510

rs_794726827

2 SubmittersRCV000180953 RCV001850423

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

SNV
Germline

Chr2:166058569

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA303437

rs_794726803

3 SubmittersRCV000180921 RCV000824285 RCV002316980

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

SNV
Germline

Chr2:166058616

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303135

rs_794726711

3 SubmittersRCV000188831 RCV000180815 RCV000636365

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

SNV
Germline

Chr2:166073353

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA303326

rs_794726762

2 SubmittersRCV000180877 RCV001212061

NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)

SNV
Germline/somatic

Chr9:127668159

Pathogenic/Likely pathogenic

Condition: not provided
Early onset epileptic encephalopathy
not specified
Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts
Infantile epilepsy syndrome
Inborn genetic diseases
Spastic ataxia
West syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA302345

rs_786205598

14 SubmittersRCV000171427 RCV000509312 RCV000502114 RCV000515202 RCV000700520 RCV001265420 RCV001266353 RCV001640264 RCV003488419

NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser)

SNV
Germline

Chr12:51789350

Pathogenic

Developmental and epileptic encephalopathy, 13
not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Complex neurodevelopmental disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278916

rs_863223345

9 SubmittersRCV000172910 RCV000517164 RCV001380064 RCV002516572 RCV003992212 RCV003320591

NM_021072.4(HCN1):c.336C>A (p.Arg112=)

SNV
Germline

Chr5:45695758

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA238964

rs_794726951

4 SubmittersRCV000173512 RCV000636559 RCV002312705

NM_001191061.2(SLC25A22):c.834C>T (p.His278=)

SNV
Germline

Chr11:792053

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA239365

rs_187824231

5 SubmittersRCV000173900 RCV001446505 RCV002316998

NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln)

SNV
Germline

Chr2:166043823

Conflicting classifications of pathogenicity

Epilepsy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA239508

rs_145670933

5 SubmittersRCV000303863 RCV000358377 RCV001132418 RCV000724592 RCV001244014

NM_001165963.4(SCN1A):c.1703G>A (p.Arg568Gln)

SNV
Germline

Chr2:166044009

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA239513

rs_794727025

3 SubmittersRCV000174047 RCV000636428

NM_006279.5(ST3GAL3):c.892-10C>T

SNV
Germline

Chr1:43920772

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA239588

rs_545265264

2 SubmittersRCV000174115 RCV002516615

NM_001330260.2(SCN8A):c.1677C>T (p.His559=)

SNV
Germline

Chr12:51721587

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA239891

rs_202212399

4 SubmittersRCV001089206 RCV002399625 RCV000723995

NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr)

SNV
Germline

Chr12:51721729

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts
SCN8A-related disorder

Criteria Provided
Conflicting Classifications

CA239893

rs_367949317

8 SubmittersRCV000724469 RCV002317003 RCV001083161 RCV004537365

NM_172107.4(KCNQ2):c.1301+8G>T

SNV
Germline

Chr20:63419611

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA239972

rs_532111320

2 SubmittersRCV000174423 RCV000556600

NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=)

SNV
Germline

Chr12:51745977

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA240121

rs_146982102

4 SubmittersRCV001403653 RCV000724787 RCV002317004

NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=)

SNV
Germline

Chr20:63414925

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA240167

rs_1801545

5 SubmittersRCV000724865 RCV001081329 RCV002390423

NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val)

SNV
Germline

Chr12:51751510

Pathogenic/Likely pathogenic

Condition: not provided
SCN8A-related disorder
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA240328

rs_794727128

4 SubmittersRCV000174766 RCV000509479 RCV001044209

NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met)

SNV
Germline

Chr20:63414092

Conflicting classifications of pathogenicity

Condition: not provided
Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7
Complex neurodevelopmental disorder
Seizures, benign familial neonatal, 1

Criteria Provided
Conflicting Classifications

CA240402

rs_794727134

8 SubmittersRCV000724023 RCV000765493 RCV002317007 RCV001240137 RCV001527628 RCV003315309 RCV000781975

NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val)

SNV
Germline

Chr2:166036301

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA240690

rs_779306054

4 SubmittersRCV000724139 RCV000795103

NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln)

SNV
Germline

Chr2:166036417

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA240694

rs_150154265

5 SubmittersRCV000462390 RCV000585632

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

SNV
Germline

Chr2:166015676

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240854

rs_201079458

8 SubmittersRCV000188914 RCV000515245 RCV001132318 RCV000724750 RCV001444749 RCV002336423

NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=)

SNV
Germline

Chr12:51769167

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
SCN8A-related disorder

Criteria Provided
Conflicting Classifications

CA240911

rs_201045619

5 SubmittersRCV000175204 RCV001086861 RCV002321691 RCV004734780

NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=)

SNV
Germline

Chr20:63406905

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA240972

rs_559610397

3 SubmittersRCV000175250 RCV002444700 RCV001495685

NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=)

SNV
Germline

Chr2:166012256

Conflicting classifications of pathogenicity

Condition: not provided
Migraine, familial hemiplegic, 3
Early infantile epileptic encephalopathy with suppression bursts
SCN1A-related disorder
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA241175

rs_369688121

5 SubmittersRCV000175414 RCV001134602 RCV001458604 RCV004734781 RCV001134603

NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys)

SNV
Germline

Chr9:128566871

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA241408

rs_368482631

7 SubmittersRCV000724442 RCV000805848 RCV001729428

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

SNV
Germline

Chr2:166058574

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA302801

rs_148442069

8 SubmittersRCV000474474 RCV000764287 RCV000724565 RCV004734783

NM_006279.5(ST3GAL3):c.118+10G>C

SNV
Germline

Chr1:43736390

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
ST3GAL3-related disorder

Criteria Provided
Conflicting Classifications

CA205504

rs_147330005

8 SubmittersRCV000192585 RCV000724030 RCV001081005 RCV003917631

NM_001330260.2(SCN8A):c.270G>T (p.Thr90=)

SNV
Germline

Chr12:51663087

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA241656

rs_371712630

3 SubmittersRCV000724363 RCV001088438

NM_001165963.4(SCN1A):c.4224G>A (p.Trp1408Ter)

SNV
Germline

Chr2:166002532

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA302832

rs_794727337

2 SubmittersRCV000176175 RCV001037904

NM_001165963.4(SCN1A):c.4284+7G>A

SNV
Germline

Chr2:166002465

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA242054

rs_745918943

3 SubmittersRCV000176176 RCV001392367 RCV004539631

NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp)

SNV
Germline

Chr9:128591603

Conflicting classifications of pathogenicity

Condition: not provided
Landau-Kleffner syndrome
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242181

rs_794727356

5 SubmittersRCV000176280 RCV000678849 RCV001343594 RCV001808450 RCV003278676

NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr)

SNV
Germline

Chr12:51786566

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 13
Cognitive impairment with or without cerebellar ataxia
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA242212

rs_794727361

8 SubmittersRCV000176314 RCV001253356 RCV001095653 RCV001219444 RCV002321698

NM_001165963.4(SCN1A):c.5433T>C (p.Val1811=)

SNV
Germline

Chr2:165991842

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA242652

rs_762310676

2 SubmittersRCV000176628 RCV001411647

NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser)

SNV
Germline

Chr2:165991712

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA242660

rs_794727415

4 SubmittersRCV000484175 RCV001057823

NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)

SNV
Germline

Chr2:165389451

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 11
Condition: not provided
Epileptic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts
West syndrome
Complex neurodevelopmental disorder
Seizure
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA202100

rs_794727444

11 SubmittersRCV000176763 RCV000189181 RCV000417008 RCV001847815 RCV001265414 RCV001849328 RCV002516714

NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)

SNV
Germline

Chr9:128608962

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Developmental and epileptic encephalopathy, 5
SPTAN1-related disorder

Criteria Provided
Conflicting Classifications

CA244765

rs_145038571

8 SubmittersRCV000713515 RCV001086665 RCV002314636 RCV001808453 RCV004552999

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

SNV
Germline

Chr2:166054637

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
Autism
Global developmental delay
Seizure
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts
Focal impaired awareness seizure
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Developmental and epileptic encephalopathy, 76
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA302978

17 SubmittersRCV000178154 RCV000188832 RCV000768306 RCV001003957 RCV001004746 RCV001227678 RCV001290257 RCV002281567 RCV003224195 RCV003338449 RCV004797789

NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met)

SNV
Germline

Chr12:51687096

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA246132

rs_775272996

4 SubmittersRCV000178933 RCV001078929

NM_172107.4(KCNQ2):c.774C>T (p.Asn258=)

SNV
Germline

Chr20:63442448

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA246278

rs_770187706

4 SubmittersRCV000723850 RCV001088157 RCV002314652

NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)

SNV
Germline

Chr20:63442429

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 7
Condition: not provided
Seizure
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA278513

rs_794727740

9 SubmittersRCV000179032 RCV000187875 RCV000192955 RCV000555510

NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile)

SNV
Germline

Chr20:63442521

Pathogenic/Likely pathogenic

Condition: not provided
Seizure
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA207014

rs_794727741

4 SubmittersRCV000179033 RCV000193491 RCV001235310

NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=)

SNV
Germline

Chr9:128632880

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases
SPTAN1-related disorder

Criteria Provided
Conflicting Classifications

CA246426

rs_138985089

7 SubmittersRCV000724755 RCV001082946 RCV001808457 RCV002314656 RCV004725030

NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)

SNV
Germline

Chr9:127661140

Pathogenic

Developmental and epileptic encephalopathy, 4
Condition: not provided
7 conditions
Intellectual disability
Early infantile epileptic encephalopathy with suppression bursts
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA203284

rs_794727792

9 SubmittersRCV000179420 RCV000189595 RCV000626842 RCV001260782 RCV001380262 RCV001265297

NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg)

SNV
Germline

Chr20:63439684

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7
Complex neurodevelopmental disorder
KCNQ2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA303047

rs_794727813

6 SubmittersRCV000179560 RCV001063168 RCV000678143 RCV003315310 RCV003985079

NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=)

SNV
Germline

Chr11:792561

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided
SLC25A22-related disorder

Criteria Provided
Conflicting Classifications

CA247329

rs_141430143

5 SubmittersRCV000179976 RCV001088546 RCV002354465 RCV000724298 RCV003947534

NM_001165963.4(SCN1A):c.1194G>A (p.Thr398=)

SNV
Germline

Chr2:166046953

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA248050

rs_753890879

2 SubmittersRCV000180563 RCV002515297

NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)

SNV
Germline

Chr9:127666206

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts
Cerebellar vermis hypoplasia
Developmental and epileptic encephalopathy, 4
Congenital cerebellar hypoplasia
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA303075

rs_794727970

9 SubmittersRCV000180590 RCV000504117 RCV000796167 RCV000779652 RCV001258012 RCV001265518

NM_006279.5(ST3GAL3):c.660C>T (p.Tyr220=)

SNV
Germline

Chr1:43899643

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
ST3GAL3-related disorder

Criteria Provided
Conflicting Classifications

CA248148

rs_201204481

4 SubmittersRCV000180632 RCV001078771 RCV002314678 RCV004757974

NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala)

SNV
Germline

Chr2:165313996

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA318111

rs_796053181

3 SubmittersRCV000189207 RCV001214974 RCV001847845

NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser)

SNV
Germline

Chr2:165344649

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317886

rs_796053118

3 SubmittersRCV000189120 RCV000640628 RCV001847838

NM_001040142.2(SCN2A):c.4036A>G (p.Ile1346Val)

SNV
Germline

Chr2:165374748

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Early infantile epileptic encephalopathy with suppression bursts
West syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA317957

rs_796053135

3 SubmittersRCV000189148 RCV001379123 RCV001847842

NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)

SNV
Germline

Chr2:165388692

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Complex neurodevelopmental disorder
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts
Epilepsy of infancy with migrating focal seizures

Criteria Provided
Multiple Submitters
No Conflicts

CA318018

10 SubmittersRCV000189171 RCV000536734 RCV001004719 RCV002247610 RCV001265265 RCV002514055 RCV001847843 RCV003155929

NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val)

SNV
Germline

Chr2:165991298

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA317690

rs_751750112

3 SubmittersRCV000189029 RCV001206735 RCV003137765

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
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317682

rs_771936735

4 SubmittersRCV000189026 RCV001334844 RCV002514050 RCV002514051

NM_001165963.4(SCN1A):c.5865A>G (p.Ile1955Met)

SNV
Germline

Chr2:165991410

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317108

rs_796052952

3 SubmittersRCV001200251 RCV001318625

NM_001165963.4(SCN1A):c.5753C>T (p.Ser1918Phe)

SNV
Germline

Chr2:165991522

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317662

rs_796053048

2 SubmittersRCV000189019 RCV002517890

NM_001165963.4(SCN1A):c.5710C>T (p.Gln1904Ter)

SNV
Germline

Chr2:165991565

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317828

rs_796053103

2 SubmittersRCV000189095 RCV001387544

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317649

rs_562208324

3 SubmittersRCV000189015 RCV000986869 RCV001071764

NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu)

SNV
Germline

Chr2:165991636

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases
See cases

Criteria Provided
Conflicting Classifications

CA317645

rs_201905405

8 SubmittersRCV000488340 RCV000692247 RCV001136462 RCV001136463 RCV002345677 RCV003128398

NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp)

SNV
Germline

Chr2:165991655

Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA317637

rs_796053043

3 SubmittersRCV000189011 RCV000697361 RCV002227087

NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile)

SNV
Germline

Chr2:165991707

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA317629

rs_144691638

5 SubmittersRCV000726913 RCV001079061 RCV002314754 RCV002469053

NM_001165963.4(SCN1A):c.5567T>C (p.Met1856Thr)

SNV
Germline

Chr2:165991708

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317625

rs_796053041

2 SubmittersRCV000189008 RCV001067049

NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu)

SNV
Germline

Chr2:165991765

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2
not specified

Criteria Provided
Conflicting Classifications

CA317617

rs_149225252

4 SubmittersRCV000189006 RCV001317294 RCV001808472 RCV003401030

NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=)

SNV
Germline

Chr2:165991929

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317104

rs_121918763

3 SubmittersRCV000188821 RCV001430872

NM_001165963.4(SCN1A):c.5291T>A (p.Phe1764Tyr)

SNV
Germline

Chr2:165991984

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
See cases

Criteria Provided
Conflicting Classifications

CA317597

rs_796053037

3 SubmittersRCV000188998 RCV001065456 RCV003156083

NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)

SNV
Germline

Chr2:165992057

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Autosomal dominant epilepsy
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA317589

rs_796053035

6 SubmittersRCV000188995 RCV002336501 RCV000781836 RCV001210054 RCV004796084

NM_001165963.4(SCN1A):c.5189T>C (p.Leu1730Pro)

SNV
Germline

Chr2:165992086

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317816

rs_796053100

2 SubmittersRCV000189092 RCV001056579

NM_001165963.4(SCN1A):c.5131G>A (p.Gly1711Ser)

SNV
Germline

Chr2:165992144

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317808

rs_796053098

3 SubmittersRCV000189090 RCV000807986 RCV002345678

NM_001165963.4(SCN1A):c.5121T>A (p.Phe1707Leu)

SNV
Germline

Chr2:165992154

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317577

rs_796053033

2 SubmittersRCV000188992 RCV000806458

NM_001165963.4(SCN1A):c.4995G>A (p.Met1665Ile)

SNV
Germline

Chr2:165992280

Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317565

rs_796053031

2 SubmittersRCV000188989 RCV003753105

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

SNV
Germline

Chr2:165992359

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Reviewed By Expert Panel

CA317553

rs_796053029

3 SubmittersRCV000188984 RCV001244268 RCV004577517

NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His)

SNV
Germline

Chr2:165994274

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317525

rs_368834365

4 SubmittersRCV000188972 RCV000731424 RCV001393461

NM_001165963.4(SCN1A):c.4577C>G (p.Pro1526Arg)

SNV
Germline

Chr2:165996017

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317509

rs_796053022

2 SubmittersRCV000188966 RCV002514048

NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr)

SNV
Germline

Chr2:165996024

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317505

rs_143088184

4 SubmittersRCV001345103 RCV001711484 RCV002514047

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
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317501

rs_372425457

5 SubmittersRCV000188964 RCV000986876 RCV001085148 RCV002317151

NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr)

SNV
Germline

Chr2:165996039

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317497

rs_796053021

4 SubmittersRCV000188963 RCV000818881 RCV001254862 RCV002517889

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
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2
SCN1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA317493

rs_139300715

12 SubmittersRCV000188961 RCV000416525 RCV000763458 RCV001050764 RCV003448284 RCV004734834

NM_001165963.4(SCN1A):c.4543G>A (p.Gly1515Arg)

SNV
Germline

Chr2:165996051

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317489

rs_796053020

2 SubmittersRCV000188960 RCV003588594

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

SNV
Germline

Chr2:165998037

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317467

rs_796053014

3 SubmittersRCV000188953 RCV000201073 RCV001852496

NM_001165963.4(SCN1A):c.4360G>A (p.Glu1454Lys)

SNV
Germline

Chr2:165998154

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553522472

1 SubmittersRCV002000214

NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe)

SNV
Germline

Chr2:165998169

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317455

rs_768638174

4 SubmittersRCV000188949 RCV000766760 RCV001211105

NM_001165963.4(SCN1A):c.4338+5G>A

SNV
Germline

Chr2:165999718

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA317454

rs_796053011

3 SubmittersRCV000188948 RCV002514046 RCV004537584

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

SNV
Germline

Chr2:165999748

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_796053010

2 SubmittersRCV001898418 RCV004804286

NM_001165963.4(SCN1A):c.4297G>C (p.Gly1433Arg)

SNV
Germline

Chr2:165999764

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317416

rs_121917908

2 SubmittersRCV000188935 RCV002514045

NM_001165963.4(SCN1A):c.4285G>A (p.Ala1429Thr)

SNV
Germline

Chr2:165999776

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317442

rs_796053008

2 SubmittersRCV000188945 RCV003753104

NM_001165963.4(SCN1A):c.4285-4A>G

SNV
Germline

Chr2:165999780

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317441

rs_796053007

4 SubmittersRCV000188944 RCV001326213 RCV002327016

NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys)

SNV
Germline

Chr2:166002594

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Migraine, familial hemiplegic, 3

Criteria Provided
Conflicting Classifications

CA317437

rs_775820803

4 SubmittersRCV000188943 RCV000814902 RCV002517011 RCV001328554

NM_001165963.4(SCN1A):c.4016C>A (p.Ala1339Asp)

SNV
Germline

Chr2:166002740

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317429

rs_794726789

2 SubmittersRCV000188940 RCV001222481

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
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 6

Criteria Provided
Multiple Submitters
No Conflicts

CA317421

rs_796053004

8 SubmittersRCV000188938 RCV000201135 RCV000622874 RCV001194614 RCV001385509 RCV002470805

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

SNV
Germline

Chr2:166009822

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Severe myoclonic epilepsy in infancy
Intellectual disability
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317408

rs_146878122

9 SubmittersRCV000188933 RCV000471568 RCV000724898 RCV000986884 RCV001252612 RCV002314753

NM_001165963.4(SCN1A):c.3683T>G (p.Ile1228Ser)

SNV
Germline

Chr2:166013766

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317387

rs_796052997

2 SubmittersRCV000188923 RCV003753103

NM_001165963.4(SCN1A):c.3607C>T (p.Gln1203Ter)

SNV
Germline

Chr2:166013842

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317375

rs_796052995

2 SubmittersRCV000188920 RCV001852495

NM_001165963.4(SCN1A):c.3556G>T (p.Val1186Leu)

SNV
Germline

Chr2:166013893

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317379

rs_780607306

3 SubmittersRCV000188921 RCV001407708 RCV002517888

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

SNV
Germline

Chr2:166036048

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317359

rs_796052994

3 SubmittersRCV000188913 RCV001857648

NM_001165963.4(SCN1A):c.3405A>G (p.Glu1135=)

SNV
Germline

Chr2:166036072

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317118

rs_796052954

2 SubmittersRCV000188827 RCV002517008

NM_001165963.4(SCN1A):c.3220G>A (p.Asp1074Asn)

SNV
Germline

Chr2:166036257

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317351

rs_751514645

4 SubmittersRCV001229261 RCV001311216 RCV004965309

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
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy 6B

Criteria Provided
Conflicting Classifications

CA317343

rs_796052991

4 SubmittersRCV000188907 RCV001509553 RCV002514043 RCV003448283

NM_001165963.4(SCN1A):c.2966C>T (p.Ala989Val)

SNV
Germline

Chr2:166036511

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317339

rs_796052990

2 SubmittersRCV000188905 RCV001317116

NM_001165963.4(SCN1A):c.2926A>C (p.Met976Leu)

SNV
Germline

Chr2:166037796

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_773681556

4 SubmittersRCV001356386 RCV001042079 RCV002314752

NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met)

SNV
Germline

Chr2:166037883

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA317315

rs_796052986

4 SubmittersRCV000188898 RCV000559138 RCV001253284

NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg)

SNV
Germline

Chr2:166037921

Pathogenic/Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_796052987

2 SubmittersRCV002250315 RCV003094038

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

SNV
Germline

Chr2:166037940

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317311

rs_796052985

2 SubmittersRCV000188896 RCV003753102

NM_001165963.4(SCN1A):c.2272A>C (p.Lys758Gln)

SNV
Germline

Chr2:166041374

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553543316

1 SubmittersRCV001320602

NM_001165963.4(SCN1A):c.1814G>C (p.Arg605Thr)

SNV
Germline

Chr2:166043898

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA317269

rs_374501252

4 SubmittersRCV000188882 RCV001060321 RCV002408846 RCV004734832

NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn)

SNV
Germline

Chr2:166043922

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317261

rs_149715258

5 SubmittersRCV000691458 RCV000725552 RCV002408845

NM_001165963.4(SCN1A):c.1662G>A (p.Gln554=)

SNV
Germline

Chr2:166045043

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317249

rs_796052977

2 SubmittersRCV000188875 RCV001857647

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
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317245

rs_184524479

4 SubmittersRCV000188874 RCV000585879 RCV001857646 RCV002399702

NM_001165963.4(SCN1A):c.1582A>T (p.Ser528Cys)

SNV
Germline

Chr2:166045123

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317241

rs_372372558

3 SubmittersRCV000656973 RCV000686709

NM_001165963.4(SCN1A):c.1499G>A (p.Arg500Gln)

SNV
Germline

Chr2:166045206

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317237

rs_200176684

3 SubmittersRCV000734751 RCV001408607

NM_001165963.4(SCN1A):c.1348C>T (p.Gln450Ter)

SNV
Germline

Chr2:166046799

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317229

rs_796052976

2 SubmittersRCV000188869 RCV003588593

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317209

rs_796052973

5 SubmittersRCV000188864 RCV001528187 RCV001857645

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
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA317213

rs_774937055

5 SubmittersRCV000188865 RCV001134813 RCV001134812 RCV001320100 RCV001775093

NM_001165963.4(SCN1A):c.1153G>A (p.Glu385Lys)

SNV
Germline

Chr2:166047644

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_796052972

1 SubmittersRCV003072775

NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val)

SNV
Germline

Chr2:166048914

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
Early infantile epileptic encephalopathy with suppression bursts
Epilepsy
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317775

rs_201870762

6 SubmittersRCV000282791 RCV000459597 RCV000397171 RCV001129822 RCV001721215 RCV001731424 RCV002314755

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

SNV
Germline

Chr2:166048929

Pathogenic/Likely pathogenic

Condition: not provided
Intellectual disability
Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317771

rs_781746113

3 SubmittersRCV000189077 RCV001255357 RCV001253376 RCV001857651

NM_001165963.4(SCN1A):c.971A>G (p.His324Arg)

SNV
Germline

Chr2:166048943

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317767

rs_796053093

2 SubmittersRCV000189076 RCV001060675

NM_001165963.4(SCN1A):c.656G>C (p.Arg219Thr)

SNV
Germline

Chr2:166052890

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317144

rs_796052960

2 SubmittersRCV000188839 RCV002517009

NM_001165963.4(SCN1A):c.603-1G>A

SNV
Germline

Chr2:166052944

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317143

rs_796052959

2 SubmittersRCV000188838 RCV001056856

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

SNV
Germline

Chr2:166054637

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317142

rs_794726827

2 SubmittersRCV000188837 RCV000804719

NM_001165963.4(SCN1A):c.602C>A (p.Ala201Glu)

SNV
Germline

Chr2:166054638

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553551312

1 SubmittersRCV001992751

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

SNV
Germline

Chr2:166056412

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA317752

rs_796053090

4 SubmittersRCV000189072 RCV000636394 RCV001252613

NM_001165963.4(SCN1A):c.265-1G>A

SNV
Germline

Chr2:166058689

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA317117

rs_796052953

3 SubmittersRCV000188826 RCV001055748

NM_001165963.4(SCN1A):c.203T>G (p.Ile68Ser)

SNV
Germline

Chr2:166073419

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA317804

rs_758871507

2 SubmittersRCV000189089 RCV001852498

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

SNV
Germline

Chr2:166073540

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
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
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA317371

rs_754032480

5 SubmittersRCV000188919 RCV001241778 RCV002225093 RCV002485282 RCV004734833

NM_001032221.6(STXBP1):c.36G>C (p.Glu12Asp)

SNV
Germline

Chr9:127612439

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA318901

rs_796053378

2 SubmittersRCV000189628 RCV001218642

NM_001032221.6(STXBP1):c.87+1G>A

SNV
Germline

Chr9:127651653

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA318843

rs_796053350

3 SubmittersRCV000189593 RCV002517020

NM_001032221.6(STXBP1):c.167C>G (p.Thr56Arg)

SNV
Germline

Chr9:127653794

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1554776228

1 SubmittersRCV001996146

NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile)

SNV
Germline

Chr9:127660033

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
STXBP1-related disorder

Criteria Provided
Conflicting Classifications

CA318830

rs_34830702

6 SubmittersRCV000189584 RCV000698059 RCV001088539 RCV002317654 RCV004553036

NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)

SNV
Germline

Chr9:127661192

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Intellectual disability
Seizure
Early infantile epileptic encephalopathy with suppression bursts
Intellectual disability
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA318847

rs_796053353

11 SubmittersRCV000189597 RCV000416131 RCV000851509 RCV001061798 RCV001260844 RCV002252038

NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)

SNV
Germline

Chr9:127663343

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts
Infantile epilepsy syndrome
Neurodevelopmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA318850

7 SubmittersRCV000189599 RCV000415749 RCV000548823 RCV001265515 RCV002273977

NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)

SNV
Germline

Chr9:127663344

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Autism
Neurodegeneration
Photosensitive tonic-clonic seizure
Intellectual disability, severe
Developmental and epileptic encephalopathy, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318852

rs_796053356

11 SubmittersRCV000189600 RCV000796165 RCV001003592 RCV002272167 RCV002345682

NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly)

SNV
Germline

Chr9:127666205

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Developmental and epileptic encephalopathy, 4

Criteria Provided
Conflicting Classifications

CA318915

rs_796053359

4 SubmittersRCV000549629 RCV002372156 RCV003150811

NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)

SNV
Germline

Chr9:127666205

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts
Infantile epilepsy syndrome
STXBP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA318859

rs_796053359

11 SubmittersRCV000189604 RCV000415997 RCV000819097 RCV001265520 RCV003335187

NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)

SNV
Germline

Chr9:127668160

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA318862

rs_796053361

11 SubmittersRCV000189606 RCV000416099 RCV000623542 RCV000636416 RCV001265522

NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)

SNV
Germline

Chr9:127673250

Pathogenic

Condition: not provided
Epileptic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts
Intellectual disability
Infantile epilepsy syndrome
Developmental and epileptic encephalopathy, 4
Cerebellar ataxia
Moderate global developmental delay
Tremor

Criteria Provided
Multiple Submitters
No Conflicts

CA318871

rs_796053366

11 SubmittersRCV000189611 RCV000416987 RCV000477371 RCV001260836 RCV001265514 RCV001336021 RCV001807119

NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)

SNV
Germline

Chr9:127675909

Pathogenic

Condition: not provided
Epileptic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts
Infantile epilepsy syndrome
Developmental and epileptic encephalopathy, 4
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA318875

rs_796053367

11 SubmittersRCV000189614 RCV000417024 RCV000636419 RCV001265293 RCV001332690 RCV004020295

NM_001032221.6(STXBP1):c.1256C>T (p.Thr419Met)

SNV
Germline

Chr9:127676650

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA318881

rs_748965227

2 SubmittersRCV000189617 RCV001088784

NM_001032221.6(STXBP1):c.1359+1G>A

SNV
Germline

Chr9:127676754

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA318883

rs_796053370

5 SubmittersRCV000189618 RCV001204641 RCV001781559

NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu)

SNV
Germline

Chr9:127678510

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts
Intellectual disability
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA318877

rs_796053368

7 SubmittersRCV000189615 RCV000415832 RCV000471170 RCV001260800 RCV002514068

NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)

SNV
Germline

Chr9:127682509

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts
Infantile epilepsy syndrome
See cases
Developmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA318892

rs_796053373

12 SubmittersRCV000189623 RCV000415936 RCV001071757 RCV001265516 RCV001420235 RCV003126574

NM_001032221.6(STXBP1):c.1672C>T (p.Gln558Ter)

SNV
Germline

Chr9:127682530

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA318898

rs_796053376

2 SubmittersRCV000189626 RCV002514069

NM_001032221.6(STXBP1):c.1702+1G>A

SNV
Germline

Chr9:127682561

Pathogenic

Condition: not provided
STXBP1-associated neurodevelopmental disorder
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 4
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA318900

rs_796053377

6 SubmittersRCV000189627 RCV000578282 RCV000796895 RCV001253119 RCV001265152

NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His)

SNV
Germline

Chr9:128574679

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA318654

rs_775634580

3 SubmittersRCV000189484 RCV001808503 RCV001439173

NM_001130438.3(SPTAN1):c.416G>A (p.Arg139Gln)

SNV
Germline

Chr9:128574727

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318555

rs_773288631

4 SubmittersRCV000189426 RCV001510356 RCV001808474 RCV004020292

NM_001130438.3(SPTAN1):c.615T>A (p.Val205=)

SNV
Germline

Chr9:128575309

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases
SPTAN1-related disorder

Criteria Provided
Conflicting Classifications

CA318658

rs_763385120

5 SubmittersRCV000189486 RCV001492552 RCV001808505 RCV002354534 RCV004553032

NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg)

SNV
Germline

Chr9:128575335

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA318660

rs_760419507

5 SubmittersRCV000189487 RCV000487757 RCV001808506 RCV002362990 RCV002514066

NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro)

SNV
Germline

Chr9:128577205

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA318558

rs_796053298

4 SubmittersRCV000189428 RCV000528432 RCV001808475

NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His)

SNV
Germline

Chr9:128577380

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA318662

rs_140076136

4 SubmittersRCV000636326 RCV000727121 RCV001808507

NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser)

SNV
Germline

Chr9:128578178

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318562

rs_2227863

4 SubmittersRCV000189430 RCV000816493 RCV001808477 RCV002345680

NM_001130438.3(SPTAN1):c.1247G>A (p.Ser416Asn)

SNV
Germline

Chr9:128579662

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA318666

rs_773663318

2 SubmittersRCV000189490 RCV003765205

NM_001130438.3(SPTAN1):c.1348G>T (p.Ala450Ser)

SNV
Germline

Chr9:128580946

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA318566

rs_768940761

3 SubmittersRCV000189432 RCV000463688 RCV001808478

NM_001130438.3(SPTAN1):c.1375C>T (p.Arg459Cys)

SNV
Germline

Chr9:128580973

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318670

rs_772281075

3 SubmittersRCV000189492 RCV002517018 RCV002381641

NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val)

SNV
Germline

Chr9:128582527

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA318674

rs_796053315

3 SubmittersRCV000458086 RCV001721228 RCV001808510

NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile)

SNV
Germline

Chr9:128582732

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318570

rs_373973880

6 SubmittersRCV000713504 RCV000699799 RCV001808480 RCV002408850

NM_001130438.3(SPTAN1):c.1806+4A>G

SNV
Germline

Chr9:128582853

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA318572

rs_770046688

6 SubmittersRCV000726972 RCV001081620 RCV001781557

NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys)

SNV
Germline

Chr9:128584321

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases
SPTAN1-related disorder

Criteria Provided
Conflicting Classifications

CA318575

rs_769094437

6 SubmittersRCV000189437 RCV000474925 RCV001705044 RCV001808482 RCV002426915 RCV004553030

NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln)

SNV
Germline

Chr9:128584490

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA318684

rs_774283264

3 SubmittersRCV000189499 RCV001302124 RCV001808512

NM_001130438.3(SPTAN1):c.2422G>A (p.Ala808Thr)

SNV
Germline

Chr9:128584510

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318686

rs_766491965

4 SubmittersRCV001236055 RCV001705049 RCV001808513 RCV002514067

NM_001130438.3(SPTAN1):c.2861A>C (p.Gln954Pro)

SNV
Germline

Chr9:128587688

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA318586

rs_796053301

2 SubmittersRCV000189443 RCV001857655

NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met)

SNV
Germline

Chr9:128588825

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318588

rs_375623472

6 SubmittersRCV000189444 RCV001058848 RCV001288013 RCV001808485 RCV003258690

NM_001130438.3(SPTAN1):c.3079G>A (p.Ala1027Thr)

SNV
Germline

Chr9:128591549

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA318690

rs_779759134

2 SubmittersRCV001852510 RCV001721229

NM_001130438.3(SPTAN1):c.3572C>T (p.Pro1191Leu)

SNV
Germline

Chr9:128600108

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA318599

rs_796053304

2 SubmittersRCV000189452 RCV003105818

NM_001130438.3(SPTAN1):c.3574T>C (p.Trp1192Arg)

SNV
Germline

Chr9:128600110

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA318601

rs_796053305

2 SubmittersRCV000189453 RCV001852506

NM_001130438.3(SPTAN1):c.3664G>T (p.Ala1222Ser)

SNV
Germline

Chr9:128604362

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA318605

rs_796053306

2 SubmittersRCV000189455 RCV001857656

NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn)

SNV
Germline

Chr9:128605470

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Peripheral neuropathy
Condition: not provided
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA318609

rs_574740801

6 SubmittersRCV000474048 RCV000449497 RCV001705046 RCV001808489

NM_001130438.3(SPTAN1):c.4046+5G>A

SNV
Germline

Chr9:128605482

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts
SPTAN1-related disorder

Criteria Provided
Conflicting Classifications

CA318700

rs_541570752

5 SubmittersRCV001705051 RCV001808514 RCV002311283 RCV002056975 RCV004553033

NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His)

SNV
Germline

Chr9:128607985

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA318618

rs_762216368

4 SubmittersRCV000189462 RCV000704575 RCV002514065 RCV001808493

NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His)

SNV
Germline

Chr9:128608015

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA318703

rs_752347538

3 SubmittersRCV000189510 RCV000636442 RCV001808515

NM_001130438.3(SPTAN1):c.4527C>A (p.Asp1509Glu)

SNV
Germline

Chr9:128608909

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA318620

rs_139113273

4 SubmittersRCV001214342 RCV002327020 RCV001705047 RCV001808494

NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu)

SNV
Germline

Chr9:128612161

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318623

rs_374723711

4 SubmittersRCV001223857 RCV001705048 RCV001808495 RCV004678632

NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr)

SNV
Germline

Chr9:128617752

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 5
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA318718

rs_796053320

3 SubmittersRCV001808517 RCV001705052 RCV001040415

NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp)

SNV
Germline

Chr9:128618053

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA318780

rs_148402616

4 SubmittersRCV000189551 RCV000464908 RCV002345681 RCV001808528

NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser)

SNV
Germline

Chr9:128618918

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA318627

rs_200248814

4 SubmittersRCV000189469 RCV001463485 RCV003457651

NM_001130438.3(SPTAN1):c.5922G>C (p.Lys1974Asn)

SNV
Germline

Chr9:128624417

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA318629

rs_777407223

3 SubmittersRCV000189470 RCV001321393 RCV001808496

NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg)

SNV
Germline

Chr9:128625124

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318722

rs_754276364

4 SubmittersRCV000189520 RCV001323491 RCV001808518 RCV004965313

NM_001130438.3(SPTAN1):c.6148G>A (p.Ala2050Thr)

SNV
Germline

Chr9:128625847

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318633

rs_762645157

3 SubmittersRCV000189472 RCV001852508 RCV004965311

NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr)

SNV
Germline

Chr9:128625934

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318641

rs_377253398

5 SubmittersRCV000189476 RCV000686393 RCV001808499 RCV001721226 RCV002517901

NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg)

SNV
Germline

Chr9:128626419

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318730

rs_796053322

4 SubmittersRCV000189524 RCV001089073 RCV001808519 RCV004668837

NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys)

SNV
Germline

Chr9:128626535

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA318734

rs_796053323

5 SubmittersRCV000415933 RCV001034128 RCV001808521

NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg)

SNV
Germline

Chr9:128626599

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases
Condition: not provided
SPTAN1-related disorder

Criteria Provided
Conflicting Classifications

CA318738

rs_144289764

7 SubmittersRCV000189528 RCV000549789 RCV001262535 RCV002317651 RCV003221842 RCV004737294

NM_001130438.3(SPTAN1):c.6496C>T (p.Arg2166Cys)

SNV
Germline

Chr9:128626607

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318740

rs_775190610

4 SubmittersRCV000189529 RCV001314638 RCV001808522 RCV002362991

NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys)

SNV
Germline

Chr9:128632286

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554768992

2 SubmittersRCV001231695 RCV002510568

NM_001130438.3(SPTAN1):c.7129G>A (p.Glu2377Lys)

SNV
Germline

Chr9:128632687

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA318645

rs_757162652

3 SubmittersRCV001808500 RCV001312364 RCV001721227

NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn)

SNV
Germline

Chr9:128633296

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318759

rs_367776636

6 SubmittersRCV000189539 RCV000636383 RCV001808525 RCV003488443 RCV002317652

NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met)

SNV
Germline

Chr11:792367

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental delay
Macrocephaly
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318388

rs_200603610

6 SubmittersRCV000636275 RCV000678848 RCV001721220 RCV002314763

NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln)

SNV
Germline

Chr11:792640

Conflicting classifications of pathogenicity

Early myoclonic encephalopathy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318345

rs_201089795

6 SubmittersRCV000398937 RCV000477165 RCV001083871 RCV002317159

NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=)

SNV
Germline

Chr11:792726

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318339

rs_199887745

6 SubmittersRCV000189310 RCV001088046 RCV000726714 RCV002327018

NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met)

SNV
Germline

Chr11:794782

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318363

rs_142220309

7 SubmittersRCV000727499 RCV001080737 RCV002054230 RCV002390499

NM_001191061.2(SLC25A22):c.133G>A (p.Val45Met)

SNV
Germline

Chr11:794789

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA318335

rs_570016062

2 SubmittersRCV000189308 RCV002514062

NM_001330260.2(SCN8A):c.614C>A (p.Ala205Glu)

SNV
Germline

Chr12:51687219

Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA318317

rs_796053233

2 SubmittersRCV000189298 RCV001220316

NM_014191.4(SCN8A):c.619A>G (p.Ile207Val)

SNV
Germline

Chr12:51688762

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA318327

rs_767123396

2 SubmittersRCV000189304 RCV001323177

NM_001330260.2(SCN8A):c.2534C>T (p.Ser845Phe)

SNV
Germline

Chr12:51762666

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 13

Criteria Provided
Conflicting Classifications

CA318256

rs_796053210

3 SubmittersRCV000189266 RCV002517014 RCV003223395

NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser)

SNV
Germline

Chr12:51769111

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial infantile, 5
Inborn genetic diseases
SCN8A-related disorder

Criteria Provided
Conflicting Classifications

CA318321

rs_202006479

7 SubmittersRCV000514951 RCV000703972 RCV001838987 RCV002321764 RCV004537587

NM_001330260.2(SCN8A):c.3640G>A (p.Ala1214Thr)

SNV
Germline

Chr12:51770678

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318266

rs_769243993

4 SubmittersRCV001034264 RCV000725891 RCV002453700

NM_001330260.2(SCN8A):c.3955G>T (p.Ala1319Ser)

SNV
Germline

Chr12:51786554

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA318272

rs_796053214

2 SubmittersRCV000189275 RCV000700845

NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)

SNV
Germline

Chr12:51790401

Pathogenic/Likely pathogenic

Condition: not provided
Epileptic encephalopathy
Developmental and epileptic encephalopathy, 13
Epilepsy
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA318276

rs_796053216

8 SubmittersRCV000189277 RCV000416962 RCV000500598 RCV000627041 RCV000462091 RCV003992219

NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile)

SNV
Germline

Chr12:51794565

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
SCN8A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318323

rs_780940263

5 SubmittersRCV000727444 RCV001210171 RCV004537588 RCV004965310

NM_001330260.2(SCN8A):c.4780A>C (p.Ile1594Leu)

SNV
Germline

Chr12:51794626

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA318325

rs_752829853

2 SubmittersRCV000189303 RCV002514061

NM_001330260.2(SCN8A):c.4936A>T (p.Met1646Leu)

SNV
Germline

Chr12:51806422

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA318290

rs_796053223

2 SubmittersRCV000189284 RCV002517015

NM_001330260.2(SCN8A):c.5555C>T (p.Thr1852Ile)

SNV
Germline

Chr12:51807041

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
SCN8A-related disorder

Criteria Provided
Conflicting Classifications

CA318298

rs_796053227

3 SubmittersRCV000189288 RCV000792213 RCV004528970

NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)

SNV
Germline

Chr12:51807100

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 13
Epileptic encephalopathy
See cases
Seizures, benign familial infantile, 5
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA318300

rs_796053228

8 SubmittersRCV000189289 RCV000229600 RCV000239726 RCV000416947 RCV002252035 RCV002281572 RCV003992221

NM_001330260.2(SCN8A):c.5615G>T (p.Arg1872Leu)

SNV
Germline

Chr12:51807101

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA318301

rs_796053229

3 SubmittersRCV000189290 RCV002517898 RCV003992222

NM_001330260.2(SCN8A):c.5761A>C (p.Thr1921Pro)

SNV
Germline

Chr12:51807247

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318303

rs_368796221

4 SubmittersRCV000546940 RCV000658651 RCV002317157

NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro)

SNV
Germline

Chr12:51807281

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318305

rs_371766742

4 SubmittersRCV000189292 RCV000529426 RCV002354533

NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)

SNV
Germline

Chr12:51807365

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318309

rs_369346315

7 SubmittersRCV000636407 RCV000726306 RCV001197747 RCV002317158

NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser)

SNV
Germline

Chr20:63406691

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder

Criteria Provided
Conflicting Classifications

CA090956

rs_756609768

4 SubmittersRCV000513433 RCV001050285 RCV003315326

NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu)

SNV
Germline

Chr20:63406708

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA315536

rs_745508762

5 SubmittersRCV000762354 RCV001302913 RCV002485271 RCV004020273

NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser)

SNV
Germline

Chr20:63406934

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Continuous spike and waves during slow sleep
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA315318

rs_748400155

5 SubmittersRCV000815524 RCV001705016 RCV001847823 RCV002444762

NM_172107.4(KCNQ2):c.2245G>T (p.Glu749Ter)

SNV
Germline

Chr20:63407018

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA090958

rs_796052658

2 SubmittersRCV000187933 RCV000636309

NM_172107.4(KCNQ2):c.2072G>A (p.Arg691His)

SNV
Germline

Chr20:63407191

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA315520

rs_773194884

2 SubmittersRCV000187932 RCV000807433

NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu)

SNV
Germline

Chr20:63407308

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA090961

rs_770730662

5 SubmittersRCV000187955 RCV000686537 RCV001838986 RCV002415807

NM_172107.4(KCNQ2):c.1887+1G>T

SNV
Germline

Chr20:63408412

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA315570

rs_796052670

2 SubmittersRCV000187954 RCV003753101

NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser)

SNV
Germline

Chr20:63408486

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases
Complex neurodevelopmental disorder

Criteria Provided
Conflicting Classifications

CA315504

rs_751334184

5 SubmittersRCV000477029 RCV000730650 RCV002408840 RCV003315325

NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro)

SNV
Germline

Chr20:63413456

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder

Criteria Provided
Conflicting Classifications

CA315495

rs_796052656

5 SubmittersRCV000710150 RCV001207533 RCV003315323

NM_172107.4(KCNQ2):c.1721G>A (p.Gly574Asp)

SNV
Germline

Chr20:63413492

Likely pathogenic

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_796052654

2 SubmittersRCV001194617 RCV003588591

NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn)

SNV
Germline

Chr20:63413526

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 7
Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Seizures, benign familial neonatal, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA315477

rs_796052653

10 SubmittersRCV000187917 RCV000678190 RCV000763450 RCV000810995 RCV002317111 RCV002281569

NM_172107.4(KCNQ2):c.1682C>T (p.Pro561Leu)

SNV
Germline

Chr20:63413531

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA315474

rs_796052652

3 SubmittersRCV000187916 RCV000678189 RCV002517873

NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)

SNV
Germline

Chr20:63413535

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7
Neurodevelopmental disorder
Absent speech
Limb dystonia
Global developmental delay
Inborn genetic diseases
Complex neurodevelopmental disorder
KCNQ2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA315471

rs_773171451

15 SubmittersRCV000187915 RCV000462637 RCV000678188 RCV001374917 RCV001003634 RCV002514018 RCV003315322 RCV004732758

NM_172107.4(KCNQ2):c.1666A>G (p.Lys556Glu)

SNV
Germline

Chr20:63413547

Pathogenic

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1555853593

2 SubmittersRCV000678187 RCV001857621

NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)

SNV
Germline

Chr20:63413556

Pathogenic

Condition: not provided
Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

CA278566

rs_759584387

12 SubmittersRCV000187912 RCV000203596 RCV000678185 RCV000706752 RCV001251207

NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp)

SNV
Germline

Chr20:63413574

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA315462

rs_796052650

6 SubmittersRCV000187911 RCV000551309 RCV000678183

NM_172107.4(KCNQ2):c.1632-1G>A

SNV
Germline

Chr20:63413582

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA315455

rs_118192233

2 SubmittersRCV000187908 RCV002514017

NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val)

SNV
Germline

Chr20:63414923

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 1
Condition: not provided
Complex neurodevelopmental disorder

Criteria Provided
Conflicting Classifications

CA315447

rs_375264483

6 SubmittersRCV000636418 RCV000765494 RCV000762355 RCV003315321

NM_172107.4(KCNQ2):c.1405G>A (p.Ala469Thr)

SNV
Germline

Chr20:63415023

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA315445

rs_781778855

3 SubmittersRCV000187903 RCV001857620

NM_172107.4(KCNQ2):c.1301+5C>T

SNV
Germline

Chr20:63419614

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
See cases

Criteria Provided
Conflicting Classifications

CA315442

rs_200872349

3 SubmittersRCV000187901 RCV000476467 RCV004797792

NM_172107.4(KCNQ2):c.1079G>A (p.Trp360Ter)

SNV
Germline

Chr20:63433848

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_796052644

2 SubmittersRCV001863912 RCV003481145

NM_172107.4(KCNQ2):c.1058G>A (p.Arg353His)

SNV
Germline

Chr20:63433869

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA315432

rs_796052645

3 SubmittersRCV000187896 RCV000678162 RCV001376923

NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys)

SNV
Germline

Chr20:63433870

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA315430

rs_118192218

4 SubmittersRCV000187895 RCV000694219 RCV003223393

NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu)

SNV
Germline

Chr20:63438644

Pathogenic/Likely pathogenic

Condition: not provided
Intellectual disability, moderate
Abnormal facial shape
Seizure
Autistic behavior
Epicanthus
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder
Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA315418

rs_796052641

8 SubmittersRCV000187889 RCV001089685 RCV001056663 RCV003315320 RCV004786512 RCV004782293

NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp)

SNV
Germline

Chr20:63438711

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA315414

rs_796052639

3 SubmittersRCV000187887 RCV003753099 RCV004984735

NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu)

SNV
Germline

Chr20:63439610

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7

Criteria Provided
Multiple Submitters
No Conflicts

CA315408

rs_775918190

3 SubmittersRCV000187884 RCV001059171 RCV000678151

NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)

SNV
Germline

Chr20:63439644

Pathogenic

Developmental and epileptic encephalopathy, 7
Condition: not provided
Epileptic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder
Seizure
KCNQ2-related disorder
Seizures, benign familial neonatal, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA278571

14 SubmittersRCV000203604 RCV000187883 RCV000417034 RCV000473067 RCV003315318 RCV004577325 RCV001265545 RCV002281568

NM_172107.4(KCNQ2):c.844G>A (p.Asp282Asn)

SNV
Germline

Chr20:63439681

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA315404

rs_796052636

2 SubmittersRCV000187881 RCV001377992

NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser)

SNV
Germline

Chr20:63442440

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA315386

rs_796052631

3 SubmittersRCV000187873 RCV001857618 RCV002317110

NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)

SNV
Germline

Chr20:63442482

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7

Criteria Provided
Conflicting Classifications

CA315383

rs_74315392

7 SubmittersRCV000187872 RCV000622359 RCV002517872 RCV003992216 RCV002470804

NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys)

SNV
Germline

Chr20:63444721

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 7
Intellectual disability
Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_796052626

5 SubmittersRCV000678132 RCV001089801 RCV001229923 RCV002273975

NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)

SNV
Germline

Chr20:63444748

Pathogenic

Developmental and epileptic encephalopathy, 7
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278564

rs_796052623

13 SubmittersRCV000203591 RCV000187858 RCV000802499 RCV000679892 RCV003315316

NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)

SNV
Germline

Chr20:63444756

Pathogenic

Condition: not provided
Inborn genetic diseases
Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 1
Complex neurodevelopmental disorder
Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA315361

rs_796052621

11 SubmittersRCV000187856 RCV000623027 RCV000768251 RCV003315315 RCV002290964 RCV000807499 RCV001420283

NM_172107.4(KCNQ2):c.583T>C (p.Ser195Pro)

SNV
Germline

Chr20:63444766

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA315359

rs_796052620

4 SubmittersRCV000187855 RCV000808224 RCV000678127 RCV004020272

NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)

SNV
Germline

Chr20:63445321

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts
Intellectual disability
Complex neurodevelopmental disorder
KCNQ2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA315355

rs_796052618

11 SubmittersRCV000187853 RCV000408747 RCV001386878 RCV001089802 RCV003315313 RCV004528968

NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys)

SNV
Germline

Chr20:63446754

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA315353

rs_796052617

3 SubmittersRCV000187852 RCV001232372 RCV002478657

NM_172107.4(KCNQ2):c.338C>T (p.Ser113Phe)

SNV
Germline

Chr20:63446796

Conflicting classifications of pathogenicity

Condition: not provided
Complex neurodevelopmental disorder
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA315349

rs_796052616

3 SubmittersRCV000187850 RCV003315312 RCV001070885

NM_172107.4(KCNQ2):c.190G>T (p.Ala64Ser)

SNV
Germline

Chr20:63472274

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA315339

rs_780110473

2 SubmittersRCV000187846 RCV001206346

NM_172107.4(KCNQ2):c.128C>T (p.Ala43Val)

SNV
Germline

Chr20:63472336

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA315543

rs_749554385

4 SubmittersRCV000187941 RCV000817367 RCV003315327 RCV002311274

NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile)

SNV
Germline

Chr12:51751523

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial infantile, 5
Developmental and epileptic encephalopathy, 13
Complex neurodevelopmental disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA204472

rs_797045013

5 SubmittersRCV000190513 RCV001852528 RCV000850597 RCV003992223 RCV002444773

NM_020988.3(GNAO1):c.626G>A (p.Arg209His)

SNV
Germline

Chr16:56336763

Pathogenic

Inborn genetic diseases
Neurodevelopmental disorder with involuntary movements
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA204658

rs_797044878

7 SubmittersRCV000190691 RCV000490633 RCV000255659 RCV001065368

NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys)

SNV
Germline

Chr16:56351396

Pathogenic

Condition: not provided
Inborn genetic diseases
Neurodevelopmental disorder with involuntary movements
Early infantile epileptic encephalopathy with suppression bursts
Developmental delay
Abnormality of the nervous system
Developmental and epileptic encephalopathy, 17
GNAO1-related developmental delay-seizures-movement disorder spectrum

Criteria Provided
Multiple Submitters
No Conflicts

CA204886

rs_797044951

10 SubmittersRCV000254701 RCV000190803 RCV000490631 RCV001857676 RCV001580372 RCV001814097 RCV001808530 RCV003996903

NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)

SNV
Germline

Chr20:10284751

Likely pathogenic

Epilepsy with generalized tonic-clonic seizures
Unilateral Hypotonia
Focal epilepsy
Intellectual disability
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA204648

rs_797044873

3 SubmittersRCV000190683 RCV001249220 RCV001706164

NM_172107.4(KCNQ2):c.693G>C (p.Glu231Asp)

SNV
Germline

Chr20:63442529

Pathogenic/Likely pathogenic

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA204842

rs_797044938

2 SubmittersRCV000190782 RCV001857675

NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=)

SNV
Germline

Chr1:43899601

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA207470

rs_115003742

9 SubmittersRCV000193762 RCV000723604 RCV001079327 RCV002315508

NM_006279.5(ST3GAL3):c.840C>T (p.Ala280=)

SNV
Germline

Chr1:43920499

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA206450

rs_752116461

3 SubmittersRCV000193155 RCV002054281 RCV002444783

NM_006279.5(ST3GAL3):c.945C>T (p.Asp315=)

SNV
Germline

Chr1:43920835

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA208211

rs_748922857

4 SubmittersRCV000194198 RCV000636456 RCV002444784 RCV003137773

NM_006279.5(ST3GAL3):c.990C>T (p.Asn330=)

SNV
Germline

Chr1:43920880

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
ST3GAL3-related disorder

Criteria Provided
Conflicting Classifications

CA206600

rs_773763812

3 SubmittersRCV000193246 RCV001478227 RCV003917775

NM_001165963.4(SCN1A):c.3165C>T (p.Asn1055=)

SNV
Germline

Chr2:166036312

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA208158

rs_797045939

3 SubmittersRCV000194167 RCV002321777 RCV002057016

NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=)

SNV
Germline

Chr2:166045295

Conflicting classifications of pathogenicity

not specified
Epilepsy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA205771

rs_142571794

6 SubmittersRCV000192743 RCV000275170 RCV000330363 RCV001133336 RCV000861352 RCV002315498 RCV002510813

NM_001130438.3(SPTAN1):c.237+4C>T

SNV
Germline

Chr9:128566981

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA205888

rs_371350283

5 SubmittersRCV000192804 RCV000824340 RCV001808552 RCV002453710

NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=)

SNV
Germline

Chr9:128591512

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases
SPTAN1-related disorder

Criteria Provided
Conflicting Classifications

CA207564

rs_150870424

6 SubmittersRCV000193823 RCV000868921 RCV001705091 RCV001808553 RCV002317711 RCV004553059

NM_001130438.3(SPTAN1):c.3156-10C>T

SNV
Germline

Chr9:128592973

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA209890

rs_745910160

3 SubmittersRCV000195221 RCV001452672 RCV001808554

NM_001191061.2(SLC25A22):c.885C>T (p.Ile295=)

SNV
Germline

Chr11:792002

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA207323

rs_543285265

4 SubmittersRCV000544995 RCV000193676 RCV001721261 RCV002315502

NM_001191061.2(SLC25A22):c.418C>T (p.Gln140Ter)

SNV
Germline

Chr11:792722

Pathogenic

Early myoclonic encephalopathy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA208268

rs_797045969

3 SubmittersRCV000194231 RCV000578996 RCV002517137

NM_001330260.2(SCN8A):c.202A>G (p.Ile68Val)

SNV
Germline

Chr12:51663019

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA205121

rs_797045945

2 SubmittersRCV000192357 RCV001857702

NM_139318.5(KCNH5):c.550-9C>G

SNV
Germline

Chr14:62981273

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA205891

rs_374202650

2 SubmittersRCV000192806 RCV002054267

NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)

SNV
Germline

Chr16:56336817

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 17
Early infantile epileptic encephalopathy with suppression bursts
Neurodevelopmental disorder with involuntary movements
Developmental and epileptic encephalopathy, 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA206640

6 SubmittersRCV000193275 RCV000694174 RCV000762964 RCV000493045

NM_172107.4(KCNQ2):c.388-9C>G

SNV
Germline

Chr20:63445373

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA209234

rs_371784719

3 SubmittersRCV000194809 RCV001711606 RCV002054268

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

SNV
Germline

Chr2:165991839

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA325468

rs_863225037

2 SubmittersRCV000201173 RCV003588599

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

SNV
Germline

Chr2:165996119

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA325463

rs_863225036

2 SubmittersRCV000201155 RCV001205577

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

SNV
Germline

Chr2:166048885

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA325455

rs_863225030

2 SubmittersRCV000201025 RCV001242095

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

SNV
Germline

Chr2:166073353

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Autosomal dominant epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA325458

rs_794726762

6 SubmittersRCV000692637 RCV000201121 RCV001197105 RCV002469061

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

SNV
Germline

Chr2:166073373

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA325464

rs_863225031

3 SubmittersRCV000201161 RCV003588598

NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)

SNV
Germline

Chr20:63439608

Pathogenic

Developmental and epileptic encephalopathy, 7
Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 1
Condition: not provided
Complex neurodevelopmental disorder
KCNQ2-related disorder
Early infantile epileptic encephalopathy with suppression bursts
Autosomal recessive congenital ichthyosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA347954

rs_864321707

11 SubmittersRCV000203598 RCV000763451 RCV001529826 RCV003315333 RCV002298526 RCV000545675 RCV002510569

NM_172107.4(KCNQ2):c.319C>T (p.Leu107Phe)

SNV
Germline

Chr20:63446815

Pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA347947

rs_864321712

2 SubmittersRCV000203587 RCV000820061

NM_001165963.4(SCN1A):c.1852C>T (p.Arg618Cys)

SNV
Germline

Chr2:166043860

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA348628

rs_750516202

4 SubmittersRCV000204396 RCV001753614 RCV002517377

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

SNV
Germline

Chr2:166007268

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA357199

rs_869312684

2 SubmittersRCV000209951 RCV003588600

NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser)

SNV
Germline

Chr1:181724488

Likely pathogenic

Inborn genetic diseases
Developmental and epileptic encephalopathy, 69
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA357988

rs_869312920

3 SubmittersRCV000210541 RCV000754087 RCV001849348

NM_020988.3(GNAO1):c.133G>C (p.Gly45Arg)

SNV
Germline

Chr16:56192588

Pathogenic/Likely pathogenic

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA358207

rs_869312939

2 SubmittersRCV000210693 RCV001378535

NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys)

SNV
Germline

Chr9:128633314

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA5266105

rs_759975874

4 SubmittersRCV000224859 RCV000807806 RCV004668861 RCV001808583

NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser)

SNV
Germline

Chr12:51699663

Pathogenic/Likely pathogenic

6 conditions
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10581564

rs_878853250

3 SubmittersRCV000225160 RCV001232816 RCV004719776

NM_001165963.4(SCN1A):c.4282G>T (p.Val1428Phe)

SNV
Germline

Chr2:166002474

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA10581821

rs_878854263

1 SubmittersRCV000231750

NM_001165963.4(SCN1A):c.2861A>T (p.Glu954Val)

SNV
Germline

Chr2:166037861

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA10581822

rs_878854262

1 SubmittersRCV000228804

NM_006030.4(CACNA2D2):c.2801A>G (p.Gln934Arg)

SNV
Germline

Chr3:50366072

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Cerebellar atrophy with seizures and variable developmental delay

Criteria Provided
Conflicting Classifications

CA2418366

rs_191208192

4 SubmittersRCV000233333 RCV002518343 RCV004725111

NM_006030.4(CACNA2D2):c.115G>A (p.Gly39Arg)

SNV
Germline

Chr3:50503309

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10582198

rs_536869186

2 SubmittersRCV000231582 RCV003258711

NM_001032221.6(STXBP1):c.798T>G (p.Tyr266Ter)

SNV
Germline

Chr9:127668083

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA10582613

rs_751170778

1 SubmittersRCV000232712

NM_001330260.2(SCN8A):c.1250A>C (p.Gln417Pro)

SNV
Germline

Chr12:51705532

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10583047

rs_878854973

2 SubmittersRCV000228705 RCV000622388

NM_001330260.2(SCN8A):c.2519T>G (p.Leu840Arg)

SNV
Germline

Chr12:51762651

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA10583048

rs_878854974

1 SubmittersRCV000232244

NM_006030.4(CACNA2D2):c.160C>T (p.Leu54Phe)

SNV
Germline

Chr3:50503264

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
CACNA2D2-related disorder
Cerebellar atrophy with seizures and variable developmental delay

Criteria Provided
Conflicting Classifications

CA2419308

rs_569543350

5 SubmittersRCV000238707 RCV000464301 RCV001640391 RCV003920001 RCV001291701

NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn)

SNV
Germline

Chr20:10293197

Pathogenic/Likely pathogenic

Congenital myasthenic syndrome 18
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10586162

rs_1555794286

3 SubmittersRCV000170319 RCV001706282 RCV004020985

NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys)

SNV
Germline

Chr12:51790425

Pathogenic

Seizures, benign familial infantile, 5
Epilepsy
Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10586233

rs_879255652

8 SubmittersRCV000239671 RCV001293365 RCV002226427 RCV002518547 RCV001556220 RCV003992245

NM_014191.4(SCN8A):c.643A>G (p.Asn215Asp)

SNV
Germline

Chr12:51688786

Pathogenic

Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA10586286

rs_879255695

2 SubmittersRCV000239741 RCV001854934

NM_001330260.2(SCN8A):c.779T>C (p.Phe260Ser)

SNV
Germline

Chr12:51699642

Pathogenic

Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA10586288

rs_879255697

2 SubmittersRCV000239739 RCV001054624

NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp)

SNV
Germline

Chr12:51706668

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 13
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA6571282

rs_761336234

3 SubmittersRCV000239743 RCV000584839 RCV001519462

NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val)

SNV
Germline

Chr12:51786578

Pathogenic

Developmental and epileptic encephalopathy, 13
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder
SCN8A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10586295

rs_879255704

6 SubmittersRCV000239751 RCV000493549 RCV002519872 RCV003992247 RCV003335289

NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys)

SNV
Germline

Chr12:51794633

Pathogenic

Developmental and epileptic encephalopathy, 13
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA10586296

rs_879255705

4 SubmittersRCV000239762 RCV001528565 RCV001854935

NM_001330260.2(SCN8A):c.5401C>G (p.Gln1801Glu)

SNV
Germline

Chr12:51806887

Pathogenic

Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA10586300

rs_879255710

2 SubmittersRCV000239746 RCV001059522

NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln)

SNV
Germline

Chr12:51807101

Pathogenic

Developmental and epileptic encephalopathy, 13
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder

Reviewed By Expert Panel

CA10586302

rs_796053229

7 SubmittersRCV000239745 RCV000523884 RCV000704631 RCV003992248

NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=)

SNV
Germline

Chr9:127678475

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5248542

rs_777499631

5 SubmittersRCV000251078 RCV000725948 RCV001083430 RCV002317783

NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=)

SNV
Germline

Chr12:51765796

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6571503

rs_374452942

5 SubmittersRCV000246214 RCV000636573 RCV000725683 RCV002429188

NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)

SNV
Germline

Chr1:181651440

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 69
CACNA1E-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10588271

rs_886039323

13 SubmittersRCV000255319 RCV001266668 RCV001849352 RCV000754086 RCV003417866

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

SNV
Germline

Chr2:166044010

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10588322

rs_886039430

8 SubmittersRCV000254726 RCV000768077 RCV001194613 RCV001382872 RCV001198880 RCV003224247 RCV003362739

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

SNV
Germline

Chr2:166052885

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA10588324

rs_886039456

3 SubmittersRCV000255269 RCV000763462 RCV002521851

NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro)

SNV
Germline

Chr9:127676671

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588466

rs_886039435

4 SubmittersRCV000254966 RCV001240474 RCV001265291

NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys)

SNV
Germline

Chr16:56336762

Pathogenic

Condition: not provided
Neurodevelopmental disorder with involuntary movements
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Movement disorder
Developmental and epileptic encephalopathy, 17
GNAO1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10588619

rs_886039494

14 SubmittersRCV000256155 RCV000490628 RCV000475848 RCV000622320 RCV001003612 RCV001775107 RCV003401217

NM_172107.4(KCNQ2):c.1741C>G (p.Arg581Gly)

SNV
Germline

Chr20:63413472

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7

Criteria Provided
Multiple Submitters
No Conflicts

CA10588704

rs_118192236

3 SubmittersRCV000255557 RCV001222134 RCV000678196

NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)

SNV
Germline

Chr3:132675903

Pathogenic/Likely pathogenic/Pathogenic, low penetrance

Developmental and epileptic encephalopathy, 44
Condition: not provided
Developmental and epileptic encephalopathy, 44
Spinocerebellar ataxia, autosomal recessive 24
Early infantile epileptic encephalopathy with suppression bursts
UBA5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2621540

rs_114925667

20 SubmittersRCV000256081 RCV000523326 RCV000626058 RCV000825503 RCV003323484

NM_001165963.4(SCN1A):c.2797C>T (p.His933Tyr)

SNV
Germline

Chr2:166037925

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10602812

rs_886041716

3 SubmittersRCV000302405 RCV001318445 RCV002436095

NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro)

SNV
Germline

Chr9:127653751

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603014

rs_886041668

3 SubmittersRCV000334893 RCV000792098 RCV001265295

NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)

SNV
Germline

Chr9:127675910

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603018

rs_886041246

17 SubmittersRCV000369586 RCV000416146 RCV000458588 RCV000622955 RCV001265512

NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val)

SNV
Germline

Chr12:51790419

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial infantile, 5
Developmental and epileptic encephalopathy, 13
Cognitive impairment with or without cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA10603278

rs_886041670

4 SubmittersRCV000338932 RCV000636327 RCV004799204

NM_020988.3(GNAO1):c.119G>A (p.Gly40Glu)

SNV
Germline

Chr16:56192574

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA10603414

rs_886041766

2 SubmittersRCV000307507 RCV002519057

NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)

SNV
Germline

Chr20:63444720

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10603489

rs_886041262

12 SubmittersRCV000267864 RCV000408715 RCV000699430 RCV003315336

NM_020988.3(GNAO1):c.118G>T (p.Gly40Trp)

SNV
Germline

Chr16:56192353

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA10603535

rs_886041715

2 SubmittersRCV000403784 RCV000688464

NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr)

SNV
Germline

Chr20:63413576

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
KCNQ2-related disorder

Criteria Provided
Conflicting Classifications

CA10603677

rs_886041860

4 SubmittersRCV000310621 RCV001855072 RCV004529458

NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro)

SNV
Germline

Chr20:63444720

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA10603678

rs_886041262

5 SubmittersRCV000378190 RCV000454413 RCV002519059

NM_001330260.2(SCN8A):c.929-4C>G

SNV
Germline

Chr12:51701140

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
SCN8A-related disorder

Criteria Provided
Conflicting Classifications

CA6571179

rs_771227940

3 SubmittersRCV000260575 RCV001444354 RCV004535266

NM_172107.4(KCNQ2):c.1887+5G>A

SNV
Germline

Chr20:63408408

Conflicting classifications of pathogenicity

Condition: not provided
Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Seizure

Criteria Provided
Conflicting Classifications

CA9958228

rs_777916008

7 SubmittersRCV000416080 RCV000678201 RCV001313507 RCV002275006

NM_001165963.4(SCN1A):c.2659G>A (p.Val887Met)

SNV
Germline

Chr2:166038063

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA1943061

rs_368663649

5 SubmittersRCV000307557 RCV002521885 RCV003362741 RCV004782337

NM_172107.4(KCNQ2):c.1209C>T (p.Leu403=)

SNV
Germline

Chr20:63428375

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA10604283

rs_752280961

3 SubmittersRCV000336237 RCV000725136 RCV001493864

NM_006279.5(ST3GAL3):c.786G>A (p.Val262=)

SNV
Germline

Chr1:43920445

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA10604284

rs_886042469

2 SubmittersRCV000367563 RCV002059115

NM_001165963.4(SCN1A):c.2057A>C (p.Glu686Ala)

SNV
Germline

Chr2:166042411

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA1943194

rs_374767754

5 SubmittersRCV000430819 RCV001043886

NM_172107.4(KCNQ2):c.1118+2T>C

SNV
Germline

Chr20:63433807

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA10604468

rs_886042605

2 SubmittersRCV000311494 RCV001056524

NM_001130438.3(SPTAN1):c.3720-7C>T

SNV
Germline

Chr9:128605027

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA5265038

rs_773023641

4 SubmittersRCV000263866 RCV000725434 RCV001407953 RCV001808732

NM_001191061.2(SLC25A22):c.726C>T (p.Ala242=)

SNV
Germline

Chr11:792320

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early myoclonic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA5789087

rs_771026197

5 SubmittersRCV000281120 RCV000725550 RCV001114124 RCV002518952

NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=)

SNV
Germline

Chr2:165991743

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA10605061

rs_886043063

3 SubmittersRCV000725619 RCV001409430

NM_001330260.2(SCN8A):c.402T>C (p.Phe134=)

SNV
Germline

Chr12:51686374

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
SCN8A-related disorder

Criteria Provided
Conflicting Classifications

CA6571061

rs_559668426

6 SubmittersRCV000725654 RCV001397437 RCV002374464 RCV004543064

NM_021072.4(HCN1):c.270G>A (p.Gln90=)

SNV
Germline

Chr5:45695824

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA10605095

rs_886043090

3 SubmittersRCV000288446 RCV002429227 RCV002519180

NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=)

SNV
Germline

Chr12:51786754

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6571755

rs_144424662

5 SubmittersRCV000307458 RCV001087884 RCV000725677 RCV002314015

NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=)

SNV
Germline

Chr9:128613443

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA5265375

rs_373491498

4 SubmittersRCV000273226 RCV000725678 RCV001084559 RCV001808733

NM_006279.5(ST3GAL3):c.302+10C>G

SNV
Germline

Chr1:43838321

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA814613

rs_192651565

2 SubmittersRCV000388598 RCV001505728

NM_001032221.6(STXBP1):c.1335C>T (p.His445=)

SNV
Germline

Chr9:127676729

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA5248515

rs_372348815

2 SubmittersRCV000329442 RCV001423321

NM_001165963.4(SCN1A):c.144C>T (p.Gly48=)

SNV
Germline

Chr2:166073478

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10605629

rs_886043534

5 SubmittersRCV000725928 RCV001398305 RCV002392805

NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val)

SNV
Germline

Chr2:166002627

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA1942836

rs_762317674

5 SubmittersRCV000725944 RCV000794768 RCV002317815 RCV004734934

NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=)

SNV
Germline

Chr9:128591548

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5264819

rs_779993051

5 SubmittersRCV000725966 RCV001078976 RCV001808737 RCV002319475

NM_001191061.2(SLC25A22):c.379C>T (p.Leu127=)

SNV
Germline

Chr11:792903

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA5789228

rs_746201051

3 SubmittersRCV000726004 RCV002059220

NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg)

SNV
Germline

Chr16:56192353

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Epileptic encephalopathy
Developmental and epileptic encephalopathy, 17

Criteria Provided
Multiple Submitters
No Conflicts

CA10605777

rs_886041715

6 SubmittersRCV000702017 RCV000486165 RCV001003610 RCV001580368

NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=)

SNV
Germline

Chr12:51807063

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA6571930

rs_185667241

4 SubmittersRCV000726031 RCV001083030

NM_001330260.2(SCN8A):c.2543T>G (p.Leu848Trp)

SNV
Germline

Chr12:51762675

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA10605825

rs_886043686

2 SubmittersRCV000265782 RCV001379975

NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys)

SNV
Germline

Chr9:128581848

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA5264424

rs_769320860

3 SubmittersRCV000310205 RCV001855204

NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=)

SNV
Germline

Chr20:63407211

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA9958161

rs_764444302

3 SubmittersRCV000358268 RCV000726154 RCV000636551

NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=)

SNV
Germline

Chr9:128591530

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA5264814

rs_530361602

4 SubmittersRCV000726339 RCV000383117 RCV001808741 RCV002059266

NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)

SNV
Germline

Chr12:51806363

Conflicting classifications of pathogenicity

Cognitive impairment with or without cerebellar ataxia
Developmental and epileptic encephalopathy, 13
Seizures, benign familial infantile, 5
Condition: not provided
Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts
Abnormal cerebral morphology

Criteria Provided
Conflicting Classifications

CA10606625

6 SubmittersRCV000760191 RCV000378250 RCV002287405 RCV002518109 RCV002274970

NM_001165963.4(SCN1A):c.4941A>G (p.Leu1647=)

SNV
Germline

Chr2:165992334

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
Epilepsy
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA1942708

rs_770111331

3 SubmittersRCV000297484 RCV000354865 RCV001129474 RCV001549750 RCV002521313

NM_001165963.4(SCN1A):c.2176+11A>C

SNV
Germline

Chr2:166042281

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
not specified
Epilepsy
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA1943183

rs_201604887

3 SubmittersRCV000292259 RCV000443334 RCV000347094 RCV002057583 RCV001129705

NM_001165963.4(SCN1A):c.4581+12C>T

SNV
Germline

Chr2:165996001

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
Epilepsy
Generalized epilepsy with febrile seizures plus, type 2
not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA10612488

rs_886055042

3 SubmittersRCV000266592 RCV000358315 RCV001129478 RCV000439107 RCV002057581

NM_001165963.4(SCN1A):c.3880-10G>C

SNV
Germline

Chr2:166009851

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
Epilepsy
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA10612491

rs_886055043

2 SubmittersRCV000270000 RCV000327373 RCV001133133 RCV003588616

NM_001165963.4(SCN1A):c.3012T>C (p.Asp1004=)

SNV
Germline

Chr2:166036465

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts
Epilepsy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1943020

rs_748537030

3 SubmittersRCV000303143 RCV001133244 RCV002057582 RCV000360511 RCV002436186

NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=)

SNV
Germline

Chr2:166013876

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts
Epilepsy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1942919

rs_750943685

4 SubmittersRCV000349461 RCV001134607 RCV001477665 RCV000388144 RCV000636540 RCV002450895

NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=)

SNV
Germline

Chr9:128627463

Conflicting classifications of pathogenicity

Early Infantile Epileptic Encephalopathy, Autosomal Dominant
Early infantile epileptic encephalopathy with suppression bursts
not specified
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5265758

rs_372825476

5 SubmittersRCV000352510 RCV000861810 RCV000608669 RCV001808781 RCV002365436

NM_001191061.2(SLC25A22):c.861C>T (p.Gly287=)

SNV
Germline

Chr11:792026

Conflicting classifications of pathogenicity

Early Infantile Epileptic Encephalopathy, Autosomal Recessive
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA5789021

rs_202218399

2 SubmittersRCV000355905 RCV001068372

NM_001191061.2(SLC25A22):c.651G>A (p.Pro217=)

SNV
Germline

Chr11:792395

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Early myoclonic encephalopathy
not specified

Criteria Provided
Conflicting Classifications

CA5789108

rs_768604742

3 SubmittersRCV001392119 RCV000291195 RCV000426506

NM_001130438.3(SPTAN1):c.4045C>T (p.Arg1349Trp)

SNV
Germline

Chr9:128605476

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5265095

rs_771862017

3 SubmittersRCV000870021 RCV001705533 RCV002323568

NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=)

SNV
Germline

Chr9:127676714

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5248513

rs_370249358

6 SubmittersRCV000516890 RCV000726837 RCV001080534 RCV002317864

NM_001130438.3(SPTAN1):c.1595A>G (p.Lys532Arg)

SNV
Germline

Chr9:128582501

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_886063501

1 SubmittersRCV003589571

NM_001191061.2(SLC25A22):c.742+9A>G

SNV
Germline

Chr11:792295

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Early myoclonic encephalopathy
not specified

Criteria Provided
Conflicting Classifications

CA5789082

rs_370309722

3 SubmittersRCV000460563 RCV000315937 RCV000440332

NM_001191061.2(SLC25A22):c.717C>T (p.Ala239=)

SNV
Germline

Chr11:792329

Conflicting classifications of pathogenicity

Early myoclonic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5789089

rs_545592967

4 SubmittersRCV000370542 RCV001405885 RCV001568771 RCV002374523

NM_001191061.2(SLC25A22):c.678C>T (p.Tyr226=)

SNV
Germline

Chr11:792368

Conflicting classifications of pathogenicity

Early myoclonic encephalopathy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5789102

rs_200072903

5 SubmittersRCV000331052 RCV001718623 RCV000863699 RCV002365354

NM_001191061.2(SLC25A22):c.327G>C (p.Ala109=)

SNV
Germline

Chr11:792955

Conflicting classifications of pathogenicity

Early myoclonic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5789237

rs_141975755

3 SubmittersRCV000315519 RCV001413968 RCV003422254

NM_001191061.2(SLC25A22):c.150C>T (p.Ser50=)

SNV
Germline

Chr11:794510

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Early myoclonic encephalopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5789346

rs_201574228

4 SubmittersRCV000870560 RCV001697712 RCV000330244 RCV002317828

NM_172107.4(KCNQ2):c.2209G>A (p.Gly737Ser)

SNV
Germline

Chr20:63407054

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder

Criteria Provided
Conflicting Classifications

CA9958124

rs_755013341

3 SubmittersRCV000658260 RCV001861170 RCV003315338

NM_172107.4(KCNQ2):c.691-5C>T

SNV
Germline

Chr20:63442536

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7

Criteria Provided
Conflicting Classifications

CA10652772

rs_886056921

3 SubmittersRCV000827932 RCV001470616 RCV001197851

NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val)

SNV
Germline

Chr20:63413481

Pathogenic/Likely pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10654781

rs_1057516123

4 SubmittersRCV000678193 RCV001850942 RCV003315343 RCV000480958

NM_172107.4(KCNQ2):c.1621A>G (p.Arg541Gly)

SNV
Germline

Chr20:63414098

Pathogenic

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1555853971

2 SubmittersRCV000678181 RCV003588622

NM_172107.4(KCNQ2):c.1247+1G>A

SNV
Germline

Chr20:63424176

Likely pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1057516115

2 SubmittersRCV000678172 RCV003588621

NM_172107.4(KCNQ2):c.1051C>T (p.Leu351Phe)

SNV
Germline

Chr20:63433876

Pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1057516106

2 SubmittersRCV000678159 RCV001861356

NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg)

SNV
Germline

Chr20:63433897

Likely pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1057516105

2 SubmittersRCV000678157 RCV002523838

NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val)

SNV
Germline

Chr20:63439599

Pathogenic

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV000678152 RCV001381684

NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)

SNV
Germline

Chr20:63439624

Pathogenic

Epileptic encephalopathy
Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10654809

rs_1057516099

10 SubmittersRCV000416958 RCV000678149 RCV001037300 RCV001702362

NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser)

SNV
Germline

Chr20:63439657

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7

Criteria Provided
Multiple Submitters
No Conflicts

CA10654811

rs_1057516098

4 SubmittersRCV000519184 RCV000466204 RCV000678146

NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe)

SNV
Germline

Chr20:63442420

Pathogenic/Likely pathogenic

Epileptic encephalopathy
Developmental and epileptic encephalopathy, 7
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA10654816

rs_1057516094

4 SubmittersRCV000416991 RCV000678140 RCV001815323 RCV001865254

NM_172107.4(KCNQ2):c.649A>G (p.Thr217Ala)

SNV
Germline

Chr20:63444700

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1

Criteria Provided
Single Submitter

rs_1057516089

2 SubmittersRCV001294297 RCV000678134

NM_172107.4(KCNQ2):c.602G>A (p.Arg201His)

SNV
Germline

Chr20:63444747

Pathogenic

Severe intellectual deficiency
Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10654826

rs_1057516085

9 SubmittersRCV000415385 RCV000678129 RCV000697424 RCV001531362 RCV003315339

NM_172107.4(KCNQ2):c.471G>A (p.Trp157Ter)

SNV
Germline

Chr20:63445281

Pathogenic

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1057516079

2 SubmittersRCV000678119 RCV001861355

NM_172107.4(KCNQ2):c.340A>G (p.Thr114Ala)

SNV
Germline

Chr20:63446794

Pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1057516076

2 SubmittersRCV000678116 RCV003588619

NM_001165963.4(SCN1A):c.5282T>C (p.Val1761Ala)

SNV
Germline

Chr2:165991993

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16042356

rs_1057518252

2 SubmittersRCV000413245 RCV001865292

NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr)

SNV
Germline

Chr2:166037795

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16042359

rs_1057518325

3 SubmittersRCV000413254 RCV002523945 RCV002274024

NM_001165963.4(SCN1A):c.2594G>A (p.Arg865Gln)

SNV
Germline

Chr2:166038128

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA16042360

rs_1057517862

3 SubmittersRCV000413258 RCV000696398 RCV002248644

NM_001165963.4(SCN1A):c.2125C>G (p.Gln709Glu)

SNV
Germline

Chr2:166042343

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1943188

rs_370037455

3 SubmittersRCV000414418 RCV000691064 RCV004668914

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

SNV
Germline

Chr2:166039422

Pathogenic

Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA16042367

rs_1057517849

3 SubmittersRCV000413444 RCV001270445 RCV002523916

NM_001165963.4(SCN1A):c.5245G>A (p.Gly1749Arg)

SNV
Germline

Chr2:165992030

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA16042389

rs_1057518258

2 SubmittersRCV000412769 RCV001861426

NM_001165963.4(SCN1A):c.4321G>A (p.Ala1441Thr)

SNV
Germline

Chr2:165999740

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA16042433

rs_121917974

2 SubmittersRCV000413422 RCV000692374

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

SNV
Germline

Chr2:166041284

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA16042443

rs_1057517959

3 SubmittersRCV000413156 RCV003588626 RCV003992286

NM_001130438.3(SPTAN1):c.3161G>A (p.Arg1054His)

SNV
Germline

Chr9:128592988

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA5264866

rs_561564501

3 SubmittersRCV000413240 RCV001514611 RCV001808790

NM_001032221.6(STXBP1):c.1652G>T (p.Arg551Leu)

SNV
Germline

Chr9:127682510

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA16042750

rs_796053374

2 SubmittersRCV000414301 RCV002523940

NM_014191.4(SCN8A):c.632T>C (p.Val211Ala)

SNV
Germline

Chr12:51688775

Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA16042901

rs_1057518487

3 SubmittersRCV000413127 RCV000699586

NM_001330260.2(SCN8A):c.760G>A (p.Val254Met)

SNV
Germline

Chr12:51699623

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16042903

rs_1057518293

2 SubmittersRCV000414697 RCV000693932

NM_172107.4(KCNQ2):c.1679G>A (p.Arg560Gln)

SNV
Germline

Chr20:63413534

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Seizure
KCNQ2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16043113

rs_1057517919

4 SubmittersRCV000413758 RCV001377685 RCV002275019 RCV004530511

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

SNV
Germline

Chr2:166044003

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16043652

rs_1057518703

4 SubmittersRCV000415450 RCV001584109 RCV001861452 RCV002402109

NM_001032221.6(STXBP1):c.1006C>T (p.Gln336Ter)

SNV
Germline

Chr9:127672093

Pathogenic

Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16044277

rs_1057519501

3 SubmittersRCV000416539 RCV001861468 RCV002418241

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

SNV
Germline

Chr2:166052945

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA16044316

rs_1057519531

2 SubmittersRCV000417006 RCV002524682

NM_001205293.3(CACNA1E):c.1807A>C (p.Ile603Leu)

SNV
Germline

Chr1:181720261

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 69
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA16603493

rs_778291283

4 SubmittersRCV000420940 RCV000754085 RCV001849373

NM_001165963.4(SCN1A):c.4339-5G>A

SNV
Germline

Chr2:165998180

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16603836

rs_1057522587

3 SubmittersRCV000440412 RCV000726683 RCV003753117

NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=)

SNV
Germline

Chr2:166013864

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA1942915

rs_138181528

3 SubmittersRCV000431979 RCV000734284 RCV001451113

NM_001165963.4(SCN1A):c.2946+5G>A

SNV
Germline

Chr2:166037771

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA16603840

rs_1057520486

2 SubmittersRCV000439519 RCV002521550

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

SNV
Germline

Chr2:166047626

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA16603844

rs_794726765

2 SubmittersRCV000420830 RCV001861507

NM_001165963.4(SCN1A):c.1096G>C (p.Asp366His)

SNV
Germline

Chr2:166047701

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA16603845

rs_750209664

3 SubmittersRCV000419099 RCV002522586

NM_001165963.4(SCN1A):c.579C>T (p.Leu193=)

SNV
Germline

Chr2:166054661

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA1943488

rs_116478064

7 SubmittersRCV000441457 RCV000734486 RCV001401833 RCV002356528 RCV004539779

NM_001165963.4(SCN1A):c.90A>G (p.Ala30=)

SNV
Germline

Chr2:166073532

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA1943571

rs_750748658

3 SubmittersRCV000419108 RCV000731561 RCV001410971

NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu)

SNV
Germline

Chr2:165373331

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 11
Complex neurodevelopmental disorder
Early infantile epileptic encephalopathy with suppression bursts
Episodic ataxia, type 9

Criteria Provided
Multiple Submitters
No Conflicts

CA16603920

rs_121917753

6 SubmittersRCV000444205 RCV001252614 RCV001265495 RCV001848749 RCV003989530

NM_001165963.4(SCN1A):c.5053G>T (p.Ala1685Ser)

SNV
Germline

Chr2:165992222

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA1942700

rs_760249153

3 SubmittersRCV000441570 RCV002522649

NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His)

SNV
Germline

Chr2:166009753

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16603932

rs_1057521746

3 SubmittersRCV000430833 RCV002525370 RCV002318436

NM_001165963.4(SCN1A):c.1663-3T>C

SNV
Germline

Chr2:166044052

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA1943266

rs_766418091

3 SubmittersRCV000423037 RCV002402127 RCV001346078

NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=)

SNV
Germline

Chr2:166038073

Conflicting classifications of pathogenicity

not specified
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1943063

rs_543436497

6 SubmittersRCV000431181 RCV001133248 RCV001134705 RCV001483665 RCV004955479

NM_001165963.4(SCN1A):c.1170+5G>C

SNV
Germline

Chr2:166047622

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16603947

rs_1057524737

2 SubmittersRCV000443082 RCV001071465

NM_001165963.4(SCN1A):c.1150T>A (p.Trp384Arg)

SNV
Germline

Chr2:166047647

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA16603948

rs_1057523858

2 SubmittersRCV000420406 RCV000636430

NM_001165963.4(SCN1A):c.852T>C (p.Asn284=)

SNV
Germline

Chr2:166051831

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1943431

rs_748747434

3 SubmittersRCV002524895 RCV000444725 RCV000730295

NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)

SNV
Germline

Chr2:165310406

Pathogenic

Benign Neonatal Epilepsy
Seizures, benign familial infantile, 3
unclassified developmental and epileptic encephalopathy
Condition: not provided
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Episodic ataxia, type 9
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16604008

rs_1057520413

11 SubmittersRCV001848748 RCV002267611 RCV003155938 RCV000436956 RCV003441147 RCV001042388 RCV002281573 RCV001848747 RCV002319492

NM_001165963.4(SCN1A):c.2819C>T (p.Ser940Phe)

SNV
Germline

Chr2:166037903

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16604035

rs_1057521080

2 SubmittersRCV000794021 RCV000428224

NM_001130438.3(SPTAN1):c.1824A>G (p.Gln608=)

SNV
Germline

Chr9:128583094

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA16605351

rs_1057523726

3 SubmittersRCV000422415 RCV001213936 RCV001808823

NM_001130438.3(SPTAN1):c.1955G>A (p.Arg652His)

SNV
Germline

Chr9:128583225

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA5264542

rs_370062384

2 SubmittersRCV000425629 RCV003753115

NM_001130438.3(SPTAN1):c.3050C>T (p.Pro1017Leu)

SNV
Germline

Chr9:128591520

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA5264810

rs_370748662

2 SubmittersRCV001696793 RCV003588635

NM_001130438.3(SPTAN1):c.3599A>G (p.His1200Arg)

SNV
Germline

Chr9:128603562

Conflicting classifications of pathogenicity

Inborn genetic diseases
not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA5264988

rs_745798632

4 SubmittersRCV002525397 RCV000441970 RCV001345703 RCV001808816

NM_001130438.3(SPTAN1):c.3816A>G (p.Gln1272=)

SNV
Germline

Chr9:128605130

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5265047

rs_745997127

3 SubmittersRCV000422495 RCV002521684 RCV002356565

NM_001130438.3(SPTAN1):c.6213C>G (p.Ser2071Arg)

SNV
Germline

Chr9:128625912

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 5
not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA5265662

rs_754910706

3 SubmittersRCV001808817 RCV000440673 RCV000473411

NM_001130438.3(SPTAN1):c.6959+5C>G

SNV
Germline

Chr9:128632328

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16605370

rs_1057523269

2 SubmittersRCV000421356 RCV002522481

NM_001130438.3(SPTAN1):c.1550G>C (p.Ser517Thr)

SNV
Germline

Chr9:128581870

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA5264428

rs_755356541

2 SubmittersRCV000423266 RCV001861606

NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser)

SNV
Germline

Chr9:128582710

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 5
not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5264484

rs_778489951

5 SubmittersRCV001808808 RCV000440323 RCV000871583 RCV001861503 RCV003343815

NM_001130438.3(SPTAN1):c.2951G>A (p.Arg984Gln)

SNV
Germline

Chr9:128588888

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16605516

rs_1057521149

3 SubmittersRCV000431442 RCV003766238 RCV004668968

NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp)

SNV
Germline

Chr9:128591569

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA5264824

rs_374682395

3 SubmittersRCV000552921 RCV001703658 RCV001808809

NM_001130438.3(SPTAN1):c.3160C>T (p.Arg1054Cys)

SNV
Germline

Chr9:128592987

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16605521

rs_200872929

2 SubmittersRCV000437952 RCV001861499

NM_001130438.3(SPTAN1):c.3587G>C (p.Arg1196Pro)

SNV
Germline

Chr9:128603550

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA5264987

rs_781124530

3 SubmittersRCV000427166 RCV001808803 RCV001242339

NM_001130438.3(SPTAN1):c.4887C>T (p.Gly1629=)

SNV
Germline

Chr9:128611827

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16605526

rs_1057522726

2 SubmittersRCV000422039 RCV001865361

NM_001130438.3(SPTAN1):c.5468C>T (p.Pro1823Leu)

SNV
Germline

Chr9:128617750

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA5265459

rs_561973288

5 SubmittersRCV000443505 RCV001041521 RCV004808714 RCV004022391 RCV001808815

NM_001130438.3(SPTAN1):c.6478C>T (p.Arg2160Cys)

SNV
Germline

Chr9:128626589

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5265709

rs_780696613

4 SubmittersRCV000440777 RCV002522382 RCV004820848 RCV004965456

NM_001130438.3(SPTAN1):c.134G>A (p.Arg45Gln)

SNV
Germline

Chr9:128566874

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA5264109

rs_760552878

2 SubmittersRCV000438696 RCV001861568

NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=)

SNV
Germline

Chr9:128583238

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16605608

rs_968327265

4 SubmittersRCV001721307 RCV000768324 RCV001463997

NM_001130438.3(SPTAN1):c.7222G>A (p.Val2408Ile)

SNV
Germline

Chr9:128632869

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16605624

rs_1057520841

3 SubmittersRCV000438763 RCV001808804 RCV001039386

NM_001191061.2(SLC25A22):c.900C>T (p.Gly300=)

SNV
Germline

Chr11:791987

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16606039

rs_1057522422

2 SubmittersRCV000442418 RCV000696674

NM_001191061.2(SLC25A22):c.293+6G>A

SNV
Germline

Chr11:793523

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5789265

rs_375955950

2 SubmittersRCV001296464 RCV001698233

NM_001130438.3(SPTAN1):c.1286C>T (p.Ala429Val)

SNV
Germline

Chr9:128579701

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA5264352

rs_368876195

2 SubmittersRCV000443754 RCV002521654

NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys)

SNV
Germline

Chr9:128580937

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA5264373

rs_767067922

4 SubmittersRCV000700851 RCV001703500 RCV001808795

NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=)

SNV
Germline

Chr9:128611725

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5265304

rs_746824729

5 SubmittersRCV000429859 RCV000636549 RCV000768325 RCV002339063

NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg)

SNV
Germline

Chr9:128615728

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA5265407

rs_771886198

4 SubmittersRCV000727624 RCV000425545 RCV001521448 RCV001808818

NM_001330260.2(SCN8A):c.497C>T (p.Thr166Ile)

SNV
Germline

Chr12:51687102

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16606307

rs_1057520361

2 SubmittersRCV000420545 RCV003588629

NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp)

SNV
Germline

Chr12:51721689

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Cognitive impairment with or without cerebellar ataxia
Developmental and epileptic encephalopathy, 13

Criteria Provided
Conflicting Classifications

CA6571329

rs_760717246

5 SubmittersRCV000555077 RCV000994920 RCV001262687 RCV004813096

NM_001330260.2(SCN8A):c.996A>G (p.Gln332=)

SNV
Germline

Chr12:51702776

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16606636

rs_1057522020

2 SubmittersRCV000419512 RCV000804286

NM_001330260.2(SCN8A):c.3710A>G (p.Lys1237Arg)

SNV
Germline

Chr12:51774253

Conflicting classifications of pathogenicity

Condition: not provided
SCN8A-related disorder
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA6571667

rs_377197765

3 SubmittersRCV000417447 RCV004735527 RCV001030824

NM_001330260.2(SCN8A):c.4411A>C (p.Lys1471Gln)

SNV
Germline

Chr12:51789410

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16606653

rs_1057521767

2 SubmittersRCV000438505 RCV002298587

NM_001191061.2(SLC25A22):c.413-7T>C

SNV
Germline

Chr11:792734

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16607026

rs_969941249

3 SubmittersRCV000442284 RCV000994537 RCV001499051

NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser)

SNV
Germline

Chr12:51765746

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 13

Criteria Provided
Conflicting Classifications

CA16607341

rs_1057524820

3 SubmittersRCV001315470 RCV000425333 RCV001253698

NM_172107.4(KCNQ2):c.1119-8C>G

SNV
Germline

Chr20:63431377

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16608423

rs_1057523550

2 SubmittersRCV000421820 RCV001318710

NM_172107.4(KCNQ2):c.631A>G (p.Met211Val)

SNV
Germline

Chr20:63444718

Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA16608425

rs_1057524599

2 SubmittersRCV000434548 RCV001865397

NM_172107.4(KCNQ2):c.485A>G (p.Lys162Arg)

SNV
Germline

Chr20:63445267

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA9958810

rs_754250122

3 SubmittersRCV000732131 RCV001066301

NM_153682.3(PIGP):c.2T>C (p.Met1Thr)

SNV
Germline

Chr21:37072514

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 55
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
See cases
PIGP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10021181

rs_768633670

7 SubmittersRCV000496825 RCV000449500 RCV001851116 RCV002252129 RCV004758690

NM_172107.4(KCNQ2):c.1734G>A (p.Met578Ile)

SNV
Germline

Chr20:63413479

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_796052655

1 SubmittersRCV001972814

NM_001165963.4(SCN1A):c.4267C>G (p.Leu1423Val)

SNV
Germline

Chr2:166002489

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA16610151

rs_1060502190

1 SubmittersRCV000472521

NM_001165963.4(SCN1A):c.3752T>C (p.Met1251Thr)

SNV
Germline

Chr2:166012236

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1942888

rs_749638533

4 SubmittersRCV000474433 RCV002222515 RCV003993970

NM_001165963.4(SCN1A):c.755T>C (p.Ile252Thr)

SNV
Germline

Chr2:166051928

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA16610165

rs_121918780

1 SubmittersRCV000476602

NM_001165963.4(SCN1A):c.383+5C>G

SNV
Germline

Chr2:166058565

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA16610169

rs_1060502185

1 SubmittersRCV000468024

NM_001165963.4(SCN1A):c.4061G>T (p.Cys1354Phe)

SNV
Germline

Chr2:166002695

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA16610188

rs_1057521537

1 SubmittersRCV000474675

NM_001165963.4(SCN1A):c.5621G>A (p.Arg1874Gln)

SNV
Germline

Chr2:165991654

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610230

rs_1060502186

2 SubmittersRCV000469429 RCV003318579

NM_001165963.4(SCN1A):c.5318C>A (p.Ser1773Tyr)

SNV
Germline

Chr2:165991957

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA16610233

rs_121917951

1 SubmittersRCV000471658

NM_001165963.4(SCN1A):c.4991T>C (p.Met1664Thr)

SNV
Germline

Chr2:165992284

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA16610239

rs_121918765

1 SubmittersRCV000460126

NM_001165963.4(SCN1A):c.5765T>G (p.Ile1922Ser)

SNV
Germline

Chr2:165991510

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA16610266

rs_121917981

1 SubmittersRCV000466422

NM_001165963.4(SCN1A):c.3822T>G (p.Tyr1274Ter)

SNV
Germline

Chr2:166012166

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA16610272

rs_1060502188

1 SubmittersRCV000475845

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

SNV
Germline

Chr2:166013739

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA16610273

rs_1060502189

2 SubmittersRCV000461916 RCV000986887

NM_006030.4(CACNA2D2):c.2995C>T (p.Pro999Ser)

SNV
Germline

Chr3:50365459

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
CACNA2D2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2418268

rs_146587089

4 SubmittersRCV000456964 RCV003960037 RCV004022860

NM_006030.4(CACNA2D2):c.1908-5C>A

SNV
Germline

Chr3:50374818

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2418667

rs_377584163

2 SubmittersRCV000460496 RCV003168839

NM_006030.4(CACNA2D2):c.3402A>C (p.Gln1134His)

SNV
Germline

Chr3:50364696

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2418088

rs_150284749

4 SubmittersRCV000477553 RCV001814158 RCV002525593

NM_001032221.6(STXBP1):c.385A>C (p.Thr129Pro)

SNV
Germline

Chr9:127661161

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA16612587

rs_1060501724

1 SubmittersRCV000456399

NM_001032221.6(STXBP1):c.1434G>A (p.Trp478Ter)

SNV
Germline

Chr9:127678505

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA16612591

rs_1060501722

1 SubmittersRCV000464099

NM_001330260.2(SCN8A):c.1339C>T (p.Gln447Ter)

SNV
Germline

Chr12:51705621

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA16613811

rs_1060501012

1 SubmittersRCV001467078

NM_014191.4(SCN8A):c.615-2A>C

SNV
Germline

Chr12:51688756

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA16614021

rs_1060504137

1 SubmittersRCV000467078

NM_139318.5(KCNH5):c.2097C>A (p.Ser699Arg)

SNV
Germline

Chr14:62708378

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7217315

rs_148812753

2 SubmittersRCV000468994 RCV002525582

NM_173728.4(ARHGEF15):c.322G>A (p.Ala108Thr)

SNV
Germline

Chr17:8312361

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8374831

rs_139532485

3 SubmittersRCV000471432 RCV004022912 RCV004705603

NM_173728.4(ARHGEF15):c.1411G>A (p.Val471Ile)

SNV
Germline

Chr17:8315564

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified
ARHGEF15-related disorder

Criteria Provided
Conflicting Classifications

CA8375161

rs_113425529

3 SubmittersRCV000460363 RCV004022913 RCV003912816

NM_172107.4(KCNQ2):c.1270C>T (p.Pro424Ser)

SNV
Germline

Chr20:63419650

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9958516

rs_748120886

3 SubmittersRCV000524020 RCV000456695 RCV002318515

NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro)

SNV
Germline

Chr20:63439650

Likely pathogenic

Complex neurodevelopmental disorder
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7

Criteria Provided
Multiple Submitters
No Conflicts

CA16616483

rs_1060500602

3 SubmittersRCV003315345 RCV000471825 RCV000853366

NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr)

SNV
Germline

Chr20:49374407

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 26
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

No Assertion Criteria Provided

CA16616937

rs_1060499592

3 SubmittersRCV000477903 RCV001249557 RCV003320442

NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)

SNV
Germline

Chr2:165377645

Pathogenic/Likely pathogenic

Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Condition: not provided
Developmental and epileptic encephalopathy, 11
SCN2A-related disorder
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Intellectual disability

Criteria Provided
Multiple Submitters
No Conflicts

CA16617269

rs_796053138

10 SubmittersRCV000640630 RCV000485232 RCV000585884 RCV004735558 RCV001848850 RCV004023125 RCV001257715

NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln)

SNV
Germline

Chr2:165991693

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16617277

rs_796053042

3 SubmittersRCV000481884 RCV001043102 RCV002350068

NM_001165963.4(SCN1A):c.5506G>T (p.Glu1836Ter)

SNV
Germline

Chr2:165991769

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16617278

rs_1064795579

2 SubmittersRCV001232515 RCV000483871

NM_001165963.4(SCN1A):c.4096G>T (p.Val1366Leu)

SNV
Germline

Chr2:166002660

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16617293

rs_121918805

2 SubmittersRCV000482328 RCV002525772

NM_001165963.4(SCN1A):c.2729A>G (p.Gln910Arg)

SNV
Germline

Chr2:166037993

Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA16617303

rs_1064795735

2 SubmittersRCV000487225 RCV000636316

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

SNV
Germline

Chr2:166045207

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA1943296

rs_141188608

4 SubmittersRCV000486171 RCV003766659 RCV003989533 RCV004564161

NM_001165963.4(SCN1A):c.350T>C (p.Leu117Pro)

SNV
Germline

Chr2:166058603

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16617318

rs_1064796384

3 SubmittersRCV000481610 RCV001851250 RCV001262228

NM_001032221.6(STXBP1):c.889G>A (p.Ala297Thr)

SNV
Germline

Chr9:127668174

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16618741

rs_1064794322

2 SubmittersRCV001851183 RCV000485374

NM_001330260.2(SCN8A):c.718A>G (p.Ile240Val)

SNV
Germline

Chr12:51699581

Pathogenic/Likely pathogenic

Condition: not provided
Cognitive impairment with or without cerebellar ataxia
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA16619557

rs_1064793923

3 SubmittersRCV000482488 RCV001330496 RCV001856835

NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser)

SNV
Germline

Chr12:51790404

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 13
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16619563

rs_1064793263

4 SubmittersRCV000988848 RCV000480970 RCV001856819

NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr)

SNV
Germline

Chr12:51807092

Conflicting classifications of pathogenicity

Condition: not provided
Cognitive impairment with or without cerebellar ataxia
Developmental and epileptic encephalopathy, 13
Seizures, benign familial infantile, 5
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16619566

rs_1064794727

3 SubmittersRCV000481897 RCV000762898 RCV001215479

NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys)

SNV
Germline

Chr16:56336846

Pathogenic/Likely pathogenic

Chorea
Dyskinesia
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 17
Neurodevelopmental disorder with involuntary movements

Criteria Provided
Multiple Submitters
No Conflicts

CA16620213

rs_1064794533

6 SubmittersRCV001003613 RCV001851189 RCV000477989 RCV000762965

NM_020988.3(GNAO1):c.871T>A (p.Tyr291Asn)

SNV
Germline

Chr16:56351531

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16620214

rs_1064795384

2 SubmittersRCV001851218 RCV000480846

NM_172107.4(KCNQ2):c.1295G>A (p.Arg432His)

SNV
Germline

Chr20:63419625

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9958511

rs_758074713

2 SubmittersRCV001227228 RCV001696895

NM_172107.4(KCNQ2):c.1075A>G (p.Thr359Ala)

SNV
Germline

Chr20:63433852

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16620967

rs_1064793334

2 SubmittersRCV000478942 RCV000806523

NM_172107.4(KCNQ2):c.1067T>C (p.Leu356Pro)

SNV
Germline

Chr20:63433860

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16620968

rs_1057518772

3 SubmittersRCV000478321 RCV000794694

NM_001165963.4(SCN1A):c.5877G>T (p.Met1959Ile)

SNV
Germline

Chr2:165991398

Conflicting classifications of pathogenicity

Condition: not provided
SCN1A-related disorder
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA1942628

rs_763997333

4 SubmittersRCV000488105 RCV004527596 RCV002356797 RCV001476355

NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val)

SNV
Germline

Chr2:165996065

Conflicting classifications of pathogenicity

Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16621765

rs_796053019

3 SubmittersRCV000487743 RCV001328670 RCV001385358

NM_001165963.4(SCN1A):c.3074A>T (p.Tyr1025Phe)

SNV
Germline

Chr2:166036403

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA1943013

rs_752532497

2 SubmittersRCV000487912 RCV001448434

NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=)

SNV
Germline

Chr2:166036438

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1943016

rs_780391343

4 SubmittersRCV000488083 RCV000516590 RCV001470063 RCV002318590

NM_001165963.4(SCN1A):c.2415+8T>C

SNV
Germline

Chr2:166041223

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA16621767

rs_1064797265

2 SubmittersRCV000487563 RCV002063828

NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg)

SNV
Germline

Chr20:63442411

Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA16621790

rs_1064797284

2 SubmittersRCV000488201 RCV002527006

NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln)

SNV
Germline

Chr2:165991892

Conflicting classifications of pathogenicity

Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA349067875

rs_121918813

3 SubmittersRCV000489481 RCV001328671 RCV003753125

NM_001165963.4(SCN1A):c.5270G>A (p.Gly1757Glu)

SNV
Germline

Chr2:165992005

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA349068318

rs_1085307930

2 SubmittersRCV000489977 RCV002526043

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA429892897

rs_1085307730

4 SubmittersRCV000489904 RCV001814163 RCV002526025

NM_001165963.4(SCN1A):c.1603C>T (p.Arg535Cys)

SNV
Germline

Chr2:166045102

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1943286

rs_761062389

2 SubmittersRCV000636267 RCV000489157

NM_001032221.6(STXBP1):c.1003C>T (p.Pro335Ser)

SNV
Germline

Chr9:127672090

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA374935919

rs_1085307916

3 SubmittersRCV000489992 RCV002466257 RCV003753124

NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp)

SNV
Germline

Chr9:128566795

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
SPTAN1-related disorder
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA375049451

rs_748232676

9 SubmittersRCV000489427 RCV002523419 RCV003387859 RCV003335376 RCV004787798

NM_020988.3(GNAO1):c.724-8G>A

SNV
Germline

Chr16:56351376

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
GNAO1-related disorder
Neurodevelopmental disorder with involuntary movements
Developmental and epileptic encephalopathy, 17

Criteria Provided
Multiple Submitters
No Conflicts

CA645293896

rs_1085307876

9 SubmittersRCV000489428 RCV001851316 RCV002526037 RCV003900029 RCV001291829 RCV002466519

NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter)

SNV
Germline

Chr20:63433834

Pathogenic

Condition: not provided
Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA409651085

5 SubmittersRCV000489438 RCV001004707 RCV001070007

NM_172107.4(KCNQ2):c.544G>A (p.Val182Met)

SNV
Germline

Chr20:63444805

Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7

Criteria Provided
Multiple Submitters
No Conflicts

CA409654914

rs_1085307920

3 SubmittersRCV000489646 RCV001340746 RCV004796195

NM_001165963.4(SCN1A):c.5600T>C (p.Ile1867Thr)

SNV
Germline

Chr2:165991675

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA349065249

rs_1131691773

2 SubmittersRCV000493585 RCV002527097

NM_001165963.4(SCN1A):c.5000T>C (p.Leu1667Pro)

SNV
Germline

Chr2:165992275

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA349069782

rs_1131691774

2 SubmittersRCV000494294 RCV002527098

NM_001165963.4(SCN1A):c.4979T>C (p.Leu1660Pro)

SNV
Germline

Chr2:165992296

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA349069907

rs_1131691675

2 SubmittersRCV000493826 RCV001865550

NM_001165963.4(SCN1A):c.4363G>A (p.Glu1455Lys)

SNV
Germline

Chr2:165998151

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA349049462

rs_1131691600

2 SubmittersRCV000493229 RCV002524036

NM_001165963.4(SCN1A):c.4133A>C (p.Asn1378Thr)

SNV
Germline

Chr2:166002623

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA349050334

rs_1131691775

2 SubmittersRCV000493143 RCV001851360

NM_001165963.4(SCN1A):c.3046G>A (p.Val1016Met)

SNV
Germline

Chr2:166036431

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Migraine, familial hemiplegic, 3
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA59787454

rs_370857858

3 SubmittersRCV001132321 RCV000493354 RCV001132320 RCV001227551

NM_001165963.4(SCN1A):c.1087A>C (p.Thr363Pro)

SNV
Germline

Chr2:166047710

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA349071283

rs_1131691465

2 SubmittersRCV000492923 RCV001390613

NM_001165963.4(SCN1A):c.596C>T (p.Thr199Ile)

SNV
Germline

Chr2:166054644

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA349075265

rs_121917983

2 SubmittersRCV000494282 RCV000796912

NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val)

SNV
Germline

Chr9:127682489

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374939370

rs_121918317

5 SubmittersRCV000494083 RCV000791831 RCV001290393

NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn)

SNV
Germline

Chr12:51806846

Conflicting classifications of pathogenicity

Seizures, benign familial infantile, 5
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA384885535

rs_1131691830

3 SubmittersRCV002281575 RCV000494231 RCV003588637

NM_172107.4(KCNQ2):c.902G>T (p.Gly301Val)

SNV
Germline

Chr20:63439623

Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA409652524

rs_1131691936

2 SubmittersRCV000494141 RCV001248008

NM_172107.4(KCNQ2):c.844G>C (p.Asp282His)

SNV
Germline

Chr20:63439681

Pathogenic/Likely pathogenic

Condition: not provided
Complex neurodevelopmental disorder
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA409652684

rs_796052636

3 SubmittersRCV000494319 RCV003315349 RCV001203282

NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr)

SNV
Germline

Chr20:63439692

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 7
Complex neurodevelopmental disorder
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
KCNQ2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA409652725

rs_1057523728

6 SubmittersRCV000585874 RCV003315347 RCV000494098 RCV002527074 RCV003444106

NM_020988.3(GNAO1):c.626G>T (p.Arg209Leu)

SNV
Germline

Chr16:56336763

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 17
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395952201

rs_797044878

3 SubmittersRCV000655933 RCV000699557 RCV004568624

NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp)

SNV
Germline

Chr2:166013751

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA349055643

rs_1553532470

3 SubmittersRCV000513029 RCV002527157

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

SNV
Germline

Chr2:166048887

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA349071541

rs_1553548063

2 SubmittersRCV000497813 RCV003588638

NM_001165963.4(SCN1A):c.632A>G (p.Asn211Ser)

SNV
Germline

Chr2:166052914

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA349074293

rs_1553550618

2 SubmittersRCV000498818 RCV001857000

NM_001330260.2(SCN8A):c.3943G>T (p.Val1315Leu)

SNV
Germline

Chr12:51786542

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA384904256

rs_1555228303

2 SubmittersRCV000498624 RCV001865573

NM_020988.3(GNAO1):c.649G>A (p.Glu217Lys)

SNV
Germline

Chr16:56336786

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA395952258

rs_1555507477

2 SubmittersRCV000498979 RCV000806364

NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=)

SNV
Germline

Chr20:63415081

Conflicting classifications of pathogenicity

Condition: not provided
Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA9958468

rs_771845478

4 SubmittersRCV000732665 RCV000765495 RCV001038432

NM_172107.4(KCNQ2):c.982C>A (p.His328Asn)

SNV
Germline

Chr20:63438666

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA409652163

rs_1555869803

2 SubmittersRCV000498715 RCV001366644

NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp)

SNV
Germline

Chr9:128604371

Conflicting classifications of pathogenicity

not specified
Childhood epilepsy with centrotemporal spikes
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA5265014

rs_569997507

5 SubmittersRCV000501169 RCV000656023 RCV000636397 RCV002318608 RCV001809453

NM_006279.5(ST3GAL3):c.401A>G (p.Asn134Ser)

SNV
Germline

Chr1:43898238

Conflicting classifications of pathogenicity

not specified
Epilepsy due to perinatal stroke
Intellectual disability, autosomal recessive 12
Developmental and epileptic encephalopathy, 15
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA814689

rs_745451424

5 SubmittersRCV000504391 RCV000678852 RCV004722843 RCV001857172 RCV003139706

NM_006279.5(ST3GAL3):c.516G>A (p.Lys172=)

SNV
Germline

Chr1:43899222

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA814728

rs_754735171

2 SubmittersRCV000500063 RCV002524301

NM_001130438.3(SPTAN1):c.363+1G>A

SNV
Germline

Chr9:128568898

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA375051352

rs_1554737064

2 SubmittersRCV000500976 RCV002527291

NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter)

SNV
Germline

Chr11:792888

Pathogenic/Likely pathogenic

Early myoclonic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA378970598

rs_1554965669

2 SubmittersRCV000499673 RCV000636291

NM_001330260.2(SCN8A):c.1880C>T (p.Ser627Leu)

SNV
Germline

Chr12:51721790

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA385229785

rs_1198276041

3 SubmittersRCV000500414 RCV001857161 RCV002259344

NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln)

SNV
Germline

Chr12:51769127

Conflicting classifications of pathogenicity

not specified
Cognitive impairment with or without cerebellar ataxia
Developmental and epileptic encephalopathy, 13
Seizures, benign familial infantile, 5
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6571555

rs_756127631

4 SubmittersRCV000503487 RCV000763860 RCV001305760 RCV001584221

NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile)

SNV
Germline

Chr16:56192598

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 17
Developmental and epileptic encephalopathy, 17
Neurodevelopmental disorder with involuntary movements
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA396128621

rs_1555499800

4 SubmittersRCV000499510 RCV003458445 RCV004023375 RCV002524192

NM_001330260.2(SCN8A):c.3945G>A (p.Val1315=)

SNV
Germline

Chr12:51786544

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA480061458

rs_1555228304

2 SubmittersRCV000512717 RCV003753128

NM_001330260.2(SCN8A):c.4840A>G (p.Thr1614Ala)

SNV
Germline

Chr12:51806326

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA384880355

rs_1555230909

2 SubmittersRCV000513422 RCV000540178

NM_001330260.2(SCN8A):c.5280G>A (p.Met1760Ile)

SNV
Germline

Chr12:51806766

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA384885163

rs_1555231013

3 SubmittersRCV000512684 RCV001201742

NM_021072.4(HCN1):c.864A>G (p.Thr288=)

SNV
Germline

Chr5:45461993

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA3259397

rs_760071472

2 SubmittersRCV000513010 RCV001865683

NM_001330260.2(SCN8A):c.4282-10C>G

SNV
Germline

Chr12:51789271

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Cognitive impairment with or without cerebellar ataxia
Developmental and epileptic encephalopathy, 13
Seizures, benign familial infantile, 5
Cognitive impairment with or without cerebellar ataxia
Developmental and epileptic encephalopathy, 13
Seizures, benign familial infantile, 5
Myoclonus, familial, 2

Criteria Provided
Conflicting Classifications

CA6571792

rs_369145855

3 SubmittersRCV001084114 RCV000514207 RCV002060185 RCV003224303

NM_172107.4(KCNQ2):c.1065C>G (p.Asp355Glu)

SNV
Germline

Chr20:63433862

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA409651167

rs_200395340

2 SubmittersRCV000514807 RCV003753129

NM_172107.4(KCNQ2):c.1545G>T (p.Glu515Asp)

SNV
Germline

Chr20:63414174

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA9958409

rs_117067974

3 SubmittersRCV000514872 RCV000616102 RCV001089306

NM_001165963.4(SCN1A):c.4952A>C (p.Lys1651Thr)

SNV
Germline

Chr2:165992323

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA349070051

rs_1553520446

2 SubmittersRCV000518407 RCV003753130

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

SNV
Germline

Chr2:165994211

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA1942737

rs_575368466

6 SubmittersRCV000518137 RCV000690853 RCV002289705

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

SNV
Germline

Chr2:166015661

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA349056701

rs_368609628

3 SubmittersRCV000517686 RCV000986891 RCV001851457

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

SNV
Germline

Chr2:166037772

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA537137454

rs_1390205269

3 SubmittersRCV000517765 RCV001569815 RCV002525077

NM_001165963.4(SCN1A):c.1329A>G (p.Glu443=)

SNV
Germline

Chr2:166046818

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified

Criteria Provided
Conflicting Classifications

CA429902908

rs_1553546728

2 SubmittersRCV000530319 RCV000517226

NM_001165963.4(SCN1A):c.1082G>A (p.Gly361Asp)

SNV
Germline

Chr2:166047715

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified

Criteria Provided
Conflicting Classifications

CA349071298

rs_1553547528

2 SubmittersRCV003588643 RCV000516466

NM_001205293.3(CACNA1E):c.683T>C (p.Leu228Pro)

SNV
Germline

Chr1:181579138

Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA343847057

rs_1553286282

2 SubmittersRCV000522998 RCV001849399

NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)

SNV
Germline

Chr2:165308794

Pathogenic/Likely pathogenic

Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
History of neurodevelopmental disorder
Seizures, benign familial infantile, 3
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 11

Criteria Provided
Multiple Submitters
No Conflicts

CA349016810

9 SubmittersRCV000688798 RCV000720902 RCV001004701 RCV001783018 RCV001848910 RCV003147500

NM_001165963.4(SCN1A):c.5963G>A (p.Arg1988Gln)

SNV
Germline

Chr2:165991312

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA1942622

rs_769477807

3 SubmittersRCV000518972 RCV001340972

NM_001165963.4(SCN1A):c.5809C>G (p.Gln1937Glu)

SNV
Germline

Chr2:165991466

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA349063734

rs_1358776988

2 SubmittersRCV000519145 RCV001497480

NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys)

SNV
Germline

Chr2:165991498

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1942643

rs_376669368

4 SubmittersRCV000520906 RCV000636264 RCV002358408

NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His)

SNV
Germline

Chr2:166002585

Conflicting classifications of pathogenicity

Condition: not provided
SCN1A-related disorder
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA349050199

rs_1295072436

4 SubmittersRCV000520201 RCV004545781 RCV001088294 RCV002311841

NM_001165963.4(SCN1A):c.3710T>C (p.Phe1237Ser)

SNV
Germline

Chr2:166012278

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA349054688

rs_1553531410

2 SubmittersRCV000520061 RCV000706305

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

SNV
Germline

Chr2:166038057

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349061639

rs_1266877537

3 SubmittersRCV000559503 RCV001253601 RCV001696832

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

SNV
Germline

Chr2:166045042

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA349068219

rs_794726749

2 SubmittersRCV000521007 RCV001036991

NM_001165963.4(SCN1A):c.413T>G (p.Ile138Ser)

SNV
Germline

Chr2:166056471

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA349076052

rs_1553552390

2 SubmittersRCV000519392 RCV001361272

NM_001330260.2(SCN8A):c.1960G>A (p.Gly654Ser)

SNV
Germline

Chr12:51721870

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA236267006

rs_905574009

2 SubmittersRCV000523519 RCV000696248

NM_001330260.2(SCN8A):c.5597G>A (p.Arg1866Gln)

SNV
Germline

Chr12:51807083

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA384887889

rs_1555231108

2 SubmittersRCV000521968 RCV002525172

NM_172107.4(KCNQ2):c.1631+5G>A

SNV
Germline

Chr20:63414083

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA658658883

rs_1178354607

2 SubmittersRCV000523555 RCV001853628

NM_172107.4(KCNQ2):c.1218-18T>G

SNV
Germline

Chr20:63424224

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1

Criteria Provided
Conflicting Classifications

CA317441636

rs_908502131

4 SubmittersRCV000522224 RCV002527571 RCV004813109

NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)

SNV
Germline

Chr20:63445322

Pathogenic/Likely pathogenic

Condition: not provided
Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7
Inborn genetic diseases
Intellectual disability
Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA409655455

12 SubmittersRCV000521018 RCV000760201 RCV001266450 RCV001089799 RCV001291707 RCV002525240 RCV003315351

NM_172107.4(KCNQ2):c.285C>A (p.Tyr95Ter)

SNV
Germline

Chr20:63472179

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA409634993

rs_1555881741

2 SubmittersRCV000518946 RCV001384184

NM_001165963.4(SCN1A):c.5167T>C (p.Ser1723Pro)

SNV
Germline

Chr2:165992108

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349068817

rs_1553520320

1 SubmittersRCV000554528

NM_001165963.4(SCN1A):c.4339-1G>A

SNV
Germline

Chr2:165998176

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349049517

rs_1553522517

1 SubmittersRCV000550750

NM_001165963.4(SCN1A):c.4027G>T (p.Ala1343Ser)

SNV
Germline

Chr2:166002729

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349050786

rs_796053006

2 SubmittersRCV000545428 RCV003236812

NM_001165963.4(SCN1A):c.5039T>A (p.Val1680Asp)

SNV
Germline

Chr2:165992236

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349069557

rs_1553520380

1 SubmittersRCV000541932

NM_001165963.4(SCN1A):c.4109C>T (p.Ala1370Val)

SNV
Germline

Chr2:166002647

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349050422

rs_1553525210

1 SubmittersRCV000557695

NM_001165963.4(SCN1A):c.2669T>C (p.Leu890Pro)

SNV
Germline

Chr2:166038053

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349061630

rs_1553541473

1 SubmittersRCV000530855

NM_001165963.4(SCN1A):c.4807G>T (p.Gly1603Ter)

SNV
Germline

Chr2:165994191

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349071463

rs_761333438

1 SubmittersRCV000525130

NM_001165963.4(SCN1A):c.4763G>A (p.Cys1588Tyr)

SNV
Germline

Chr2:165994235

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349071632

rs_1553520982

2 SubmittersRCV000549298 RCV001796101

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

SNV
Germline

Chr2:165992058

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1942686

rs_149315236

5 SubmittersRCV000768075 RCV000828050 RCV001438907 RCV003224323 RCV002350223 RCV004701623

NM_001165963.4(SCN1A):c.5174G>A (p.Gly1725Asp)

SNV
Germline

Chr2:165992101

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349068786

rs_1553520318

1 SubmittersRCV000530416

NM_001165963.4(SCN1A):c.2947G>A (p.Val983Ile)

SNV
Germline

Chr2:166036530

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349060661

rs_1553540503

1 SubmittersRCV000548719

NM_001165963.4(SCN1A):c.2868G>A (p.Met956Ile)

SNV
Germline

Chr2:166037854

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349061084

rs_1553541172

1 SubmittersRCV000535322

NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val)

SNV
Germline

Chr2:166043802

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349067313

rs_1266240114

6 SubmittersRCV000526352 RCV001702501

NM_001165963.4(SCN1A):c.2522C>G (p.Thr841Arg)

SNV
Germline

Chr2:166039490

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349062549

rs_750901301

1 SubmittersRCV000539521

NM_001165963.4(SCN1A):c.2261G>A (p.Trp754Ter)

SNV
Germline

Chr2:166041385

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349064816

rs_794726743

1 SubmittersRCV000550135

NM_001165963.4(SCN1A):c.2T>C (p.Met1Thr)

SNV
Germline

Chr2:166073620

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349243520

rs_1553561023

2 SubmittersRCV000524577 RCV000579160

NM_001165963.4(SCN1A):c.1008T>G (p.Cys336Trp)

SNV
Germline

Chr2:166048906

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349071602

rs_1553548096

1 SubmittersRCV000553399

NM_001165963.4(SCN1A):c.580G>T (p.Asp194Tyr)

SNV
Germline

Chr2:166054660

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349075328

rs_121917935

1 SubmittersRCV000557448

NM_006030.4(CACNA2D2):c.17G>C (p.Arg6Pro)

SNV
Germline

Chr3:50503407

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Cerebellar atrophy with seizures and variable developmental delay

Criteria Provided
Conflicting Classifications

CA353000543

rs_1317078806

2 SubmittersRCV000529487 RCV004722887

NM_021072.4(HCN1):c.701A>T (p.Tyr234Phe)

SNV
Germline

Chr5:45645333

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA359707309

rs_1554037381

1 SubmittersRCV000535446

NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu)

SNV
Germline

Chr9:128568896

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA200426935

rs_942861981

3 SubmittersRCV000529844 RCV001591214 RCV001809477

NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp)

SNV
Germline

Chr9:128583870

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375056164

rs_1554746116

2 SubmittersRCV000525980 RCV003148779

NM_001130438.3(SPTAN1):c.5904A>T (p.Lys1968Asn)

SNV
Germline

Chr9:128624399

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5265591

rs_778709187

3 SubmittersRCV000539013 RCV004691860 RCV004965546

NM_001032221.6(STXBP1):c.326-1G>T

SNV
Germline

Chr9:127661101

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374932136

rs_1554776948

3 SubmittersRCV000543201 RCV001030035

NM_001032221.6(STXBP1):c.1111-2A>G

SNV
Germline

Chr9:127675802

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374936675

rs_1554778417

2 SubmittersRCV000527133 RCV000721132

NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys)

SNV
Germline

Chr9:128608925

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5265211

rs_149899658

3 SubmittersRCV000540596 RCV001809478 RCV002316531

NM_001032221.6(STXBP1):c.1360-2A>T

SNV
Germline

Chr9:127678429

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA374937651

rs_1057522982

1 SubmittersRCV000553132

NM_003165.6(STXBP1):c.1789G>A (p.Asp597Asn)

SNV
Germline

Chr9:127684454

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5248634

rs_749807465

2 SubmittersRCV000531208 RCV001707725

NM_001130438.3(SPTAN1):c.1274A>G (p.Gln425Arg)

SNV
Germline

Chr9:128579689

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5264351

rs_11792065

3 SubmittersRCV000525064 RCV002225652 RCV004782430

NM_001130438.3(SPTAN1):c.1690C>T (p.Arg564Cys)

SNV
Germline

Chr9:128582733

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified

Criteria Provided
Conflicting Classifications

CA5264490

rs_759822213

2 SubmittersRCV001514015 RCV004800450

NM_001330260.2(SCN8A):c.3820-7T>C

SNV
Germline

Chr12:51780642

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified
SCN8A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6571714

rs_375785915

4 SubmittersRCV000556926 RCV004586770 RCV004537941 RCV001613346

NM_001330260.2(SCN8A):c.832C>T (p.Arg278Ter)

SNV
Germline

Chr12:51699695

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA385226619

rs_1555218657

2 SubmittersRCV000546734 RCV003886408

NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln)

SNV
Germline

Chr12:51770601

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases
Developmental and epileptic encephalopathy, 13
Cognitive impairment with or without cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA384896499

rs_1555226375

6 SubmittersRCV000536288 RCV002282211 RCV002456092 RCV003448318 RCV004767348

NM_139318.5(KCNH5):c.733A>G (p.Ile245Val)

SNV
Germline

Chr14:62981081

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7217603

rs_754761406

2 SubmittersRCV000542290 RCV003159791

NM_172107.4(KCNQ2):c.2173C>T (p.Arg725Cys)

SNV
Germline

Chr20:63407090

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 7

Criteria Provided
Conflicting Classifications

CA9958136

rs_768284828

3 SubmittersRCV000529314 RCV001564307 RCV003338650

NM_172107.4(KCNQ2):c.1232C>T (p.Pro411Leu)

SNV
Germline

Chr20:63424192

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9958552

rs_754682495

3 SubmittersRCV000543280 RCV002527747 RCV004808753

NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly)

SNV
Germline

Chr20:63438654

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA409652112

rs_1555869758

2 SubmittersRCV000558218 RCV000622400

NM_172107.4(KCNQ2):c.515A>G (p.Asp172Gly)

SNV
Germline

Chr20:63444834

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA409654975

rs_1555873823

1 SubmittersRCV000525803

NM_172107.4(KCNQ2):c.915C>G (p.Phe305Leu)

SNV
Germline

Chr20:63439610

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA409652470

rs_775918190

1 SubmittersRCV000533623

NM_172107.4(KCNQ2):c.2312C>T (p.Thr771Ile)

SNV
Germline

Chr20:63406951

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7
Complex neurodevelopmental disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9958103

rs_759258191

4 SubmittersRCV000560375 RCV002254526 RCV003315353 RCV001591215

NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met)

SNV
Germline

Chr20:63407176

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA9958156

rs_570139975

3 SubmittersRCV000593892 RCV001087049

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

SNV
Germline

Chr2:166002716

Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA349050737

rs_1553525325

2 SubmittersRCV000578191 RCV003588648

NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr)

SNV
Germline

Chr20:63414097

Conflicting classifications of pathogenicity

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA409645148

rs_1555853970

2 SubmittersRCV000578391 RCV001322734

NM_172107.4(KCNQ2):c.841G>C (p.Gly281Arg)

SNV
Germline

Chr20:63439684

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA409652696

rs_794727813

2 SubmittersRCV000578224 RCV001860006

NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro)

SNV
Germline

Chr12:51789408

Likely pathogenic

Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA384908600

rs_1555228771

2 SubmittersRCV000578414 RCV003753133

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

SNV
Germline

Chr2:165992423

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349070819

rs_1553520530

4 SubmittersRCV000578728 RCV001387750 RCV002289845

NM_014191.4(SCN8A):c.615-1G>A

SNV
Germline

Chr12:51688757

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA385223503

rs_1555217342

2 SubmittersRCV000578922 RCV001860018

NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter)

SNV
Germline

ChrX:18628716

Pathogenic

Developmental and epileptic encephalopathy, 2
CDKL5 disorder
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Reviewed By Expert Panel

CA412369187

rs_1555955296

5 SubmittersRCV000735202 RCV002281117 RCV000578897 RCV004017682

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

SNV
Germline

Chr2:166054747

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA349075669

rs_1553551493

2 SubmittersRCV000585806 RCV001853962

NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys)

SNV
Germline

Chr20:63414131

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA317429754

rs_897976020

5 SubmittersRCV000585831 RCV001306124 RCV002404589 RCV004592898

NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser)

SNV
Germline

Chr20:63439696

Likely pathogenic

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA409652738

rs_1555870554

2 SubmittersRCV000585822 RCV001379936

NM_172107.4(KCNQ2):c.778C>T (p.His260Tyr)

SNV
Germline

Chr20:63442444

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA409653453

rs_1555871832

2 SubmittersRCV000585840 RCV001867902

NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter)

SNV
Germline

Chr2:165991541

Pathogenic

Autosomal dominant epilepsy
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Migraine, familial hemiplegic, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA1942648

rs_77216276

5 SubmittersRCV000586829 RCV001223212 RCV001090356 RCV002221562

NM_001165963.4(SCN1A):c.3502G>A (p.Val1168Ile)

SNV
Germline

Chr2:166015655

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA1942940

rs_146374754

2 SubmittersRCV000587683 RCV002530921

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
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1942758

rs_780360360

7 SubmittersRCV000587898 RCV000764285 RCV001262414 RCV001337164 RCV002317333

NM_001032221.6(STXBP1):c.794+1G>A

SNV
Germline

Chr9:127666297

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374934273

rs_1554777496

3 SubmittersRCV000596140 RCV001214993 RCV002470917

NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=)

SNV
Germline

Chr9:128633295

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5266102

rs_752878085

5 SubmittersRCV000593607 RCV001484134 RCV001809691 RCV002384293

NM_001130438.3(SPTAN1):c.2871+8T>C

SNV
Germline

Chr9:128587706

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA590634163

rs_1485998372

2 SubmittersRCV000595800 RCV002062008

NM_001330260.2(SCN8A):c.2733C>T (p.Asp911=)

SNV
Germline

Chr12:51765859

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA6571507

rs_763201344

3 SubmittersRCV000591449 RCV001498806

NM_172107.4(KCNQ2):c.2T>A (p.Met1Lys)

SNV
Germline

Chr20:63472462

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA409636356

rs_118192186

2 SubmittersRCV000594914 RCV000809476

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

SNV
Germline

Chr2:165991287

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA59797683

rs_371243629

4 SubmittersRCV000593278 RCV000636263 RCV000764281

NM_001165963.4(SCN1A):c.3118A>C (p.Arg1040=)

SNV
Germline

Chr2:166036359

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA59787358

rs_370793418

2 SubmittersRCV000596741 RCV001490612

NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=)

SNV
Germline

Chr2:166044032

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
not specified
Inborn genetic diseases
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA1943261

rs_145662732

6 SubmittersRCV000598096 RCV001078972 RCV002469216 RCV002315889 RCV004543345

NM_006279.5(ST3GAL3):c.1068A>G (p.Lys356=)

SNV
Germline

Chr1:43930161

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA21677323

rs_1015506821

2 SubmittersRCV000595601 RCV001499719

NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser)

SNV
Germline

Chr2:166036357

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA349059913

rs_1373733895

4 SubmittersRCV000592994 RCV001045518 RCV002325127 RCV004530688

NM_001130438.3(SPTAN1):c.3965G>A (p.Ser1322Asn)

SNV
Germline

Chr9:128605396

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA5265082

rs_756084170

3 SubmittersRCV000598140 RCV002377233 RCV001867957

NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=)

SNV
Germline

Chr2:166043915

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1943247

rs_145035963

4 SubmittersRCV000593564 RCV001088910 RCV002315893

NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=)

SNV
Germline

Chr2:166013858

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA1942913

rs_371596040

3 SubmittersRCV000727104 RCV000595888 RCV001413918

NM_001130438.3(SPTAN1):c.5907T>C (p.Ala1969=)

SNV
Germline

Chr9:128624402

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA200404744

rs_768986492

3 SubmittersRCV000594213 RCV001088322 RCV001809692

NM_021072.4(HCN1):c.1044A>C (p.Ala348=)

SNV
Germline

Chr5:45396678

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA3259368

rs_745452621

2 SubmittersRCV000592433 RCV002532504

NM_172107.4(KCNQ2):c.2280C>T (p.Arg760=)

SNV
Germline

Chr20:63406983

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9958108

rs_753696924

2 SubmittersRCV000636523 RCV000594881

NM_001330260.2(SCN8A):c.5366A>G (p.Tyr1789Cys)

SNV
Germline

Chr12:51806852

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA236327597

rs_961205540

2 SubmittersRCV000594371 RCV001401136

NM_006279.5(ST3GAL3):c.900T>C (p.Pro300=)

SNV
Germline

Chr1:43920790

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA814845

rs_563317319

3 SubmittersRCV000592674 RCV001083714 RCV002317341

NM_006279.5(ST3GAL3):c.666C>T (p.Arg222=)

SNV
Germline

Chr1:43899649

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA814773

rs_773310944

2 SubmittersRCV001435979 RCV000597110

NM_021072.4(HCN1):c.2008G>A (p.Ala670Thr)

SNV
Germline

Chr5:45262586

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA3259184

rs_373454105

4 SubmittersRCV000591084 RCV001089002

NM_021072.4(HCN1):c.1619-3T>C

SNV
Germline

Chr5:45267256

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
HCN1-related disorder

Criteria Provided
Conflicting Classifications

CA3259244

rs_376434225

5 SubmittersRCV000592953 RCV001089088 RCV002317344 RCV003927942

NM_001165963.4(SCN1A):c.606C>T (p.Tyr202=)

SNV
Germline

Chr2:166052940

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Migraine, familial hemiplegic, 3
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA1943472

rs_374555589

4 SubmittersRCV000611417 RCV000992882 RCV001129825 RCV001481810 RCV001129826

NM_001165963.4(SCN1A):c.2590C>T (p.Leu864=)

SNV
Germline

Chr2:166038132

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1943067

rs_140035595

3 SubmittersRCV000615892 RCV000636607 RCV002431767

NM_001032221.6(STXBP1):c.144A>C (p.Thr48=)

SNV
Germline

Chr9:127653771

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA467433839

rs_1462537561

4 SubmittersRCV000616990 RCV001468836 RCV004584773

NM_001032221.6(STXBP1):c.419A>G (p.Tyr140Cys)

SNV
Germline

Chr9:127661195

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA200262961

rs_774228113

2 SubmittersRCV000610309 RCV002531667

NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser)

SNV
Germline

Chr9:128576872

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5264233

rs_752578570

5 SubmittersRCV001308068 RCV001719104 RCV001809701 RCV002360469

NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=)

SNV
Germline

Chr9:128624375

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5265588

rs_372782253

4 SubmittersRCV000615094 RCV003105991 RCV002358705 RCV003488725

NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser)

SNV
Germline

Chr9:128577494

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5264294

rs_201947293

5 SubmittersRCV001034135 RCV001809697 RCV001718900 RCV004024937

NM_001130438.3(SPTAN1):c.4991A>G (p.Lys1664Arg)

SNV
Germline

Chr9:128612194

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA5265353

rs_757109566

4 SubmittersRCV001346568 RCV004024947 RCV001697975 RCV001809699

NM_001130438.3(SPTAN1):c.6959+5C>T

SNV
Germline

Chr9:128632328

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA658797300

rs_1057523269

2 SubmittersRCV000604431 RCV003753142

NM_001130438.3(SPTAN1):c.2159A>G (p.His720Arg)

SNV
Germline

Chr9:128583935

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA375056517

rs_759274173

2 SubmittersRCV000616126 RCV001868076

NM_001130438.3(SPTAN1):c.6960G>A (p.Arg2320=)

SNV
Germline

Chr9:128632431

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA467485018

rs_1276832919

2 SubmittersRCV000609466 RCV002531534

NM_001330260.2(SCN8A):c.2545-4T>G

SNV
Germline

Chr12:51765667

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA605238518

rs_1175986621

3 SubmittersRCV000609689 RCV002060645 RCV002431823

NM_001330260.2(SCN8A):c.3135C>T (p.Ile1045=)

SNV
Germline

Chr12:51769098

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6571549

rs_550579591

3 SubmittersRCV001463881 RCV000602350 RCV000734021

NM_173728.4(ARHGEF15):c.2519C>T (p.Pro840Leu)

SNV
Germline

Chr17:8320986

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA8375558

rs_552154823

2 SubmittersRCV001704775 RCV003588658

NM_172107.4(KCNQ2):c.1121C>T (p.Ser374Leu)

SNV
Germline

Chr20:63431367

Conflicting classifications of pathogenicity

Inborn genetic diseases
not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA9958600

rs_777940990

3 SubmittersRCV002317362 RCV000612732 RCV001320932

NM_172107.4(KCNQ2):c.388-3C>T

SNV
Germline

Chr20:63445367

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA658799392

rs_1555874020

2 SubmittersRCV000606629 RCV002529555

NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)

SNV
Germline

Chr1:181724499

Pathogenic/Likely pathogenic

Inborn genetic diseases
Developmental and epileptic encephalopathy, 69
Condition: not provided
Van der Woude syndrome 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

CA33822752

rs_12131800

13 SubmittersRCV000624563 RCV000754084 RCV001269715 RCV001756024 RCV001849415

NM_001205293.3(CACNA1E):c.4288G>A (p.Gly1430Arg)

SNV
Germline

Chr1:181757085

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA343624510

rs_1553345844

3 SubmittersRCV000624831 RCV001849418 RCV004721489

NM_001165963.4(SCN1A):c.2353A>T (p.Met785Leu)

SNV
Germline

Chr2:166041293

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts
not specified

Criteria Provided
Conflicting Classifications

CA1943133

rs_767045134

3 SubmittersRCV000622760 RCV001248589 RCV004767446

NM_020988.3(GNAO1):c.116T>C (p.Leu39Pro)

SNV
Germline

Chr16:56192351

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA396128552

rs_1555499769

2 SubmittersRCV000623353 RCV001241780

NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys)

SNV
Germline

Chr12:51769230

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
See cases

Criteria Provided
Conflicting Classifications

CA6571568

rs_761386688

4 SubmittersRCV000625852 RCV001868159 RCV000994922 RCV003231543

NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser)

SNV
Germline

Chr12:51788702

Conflicting classifications of pathogenicity

Febrile seizure (within the age range of 3 months to 6 years)
Choreoathetosis
Global developmental delay
Leukoencephalopathy
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 13

Criteria Provided
Conflicting Classifications

CA384907172

rs_1555228665

3 SubmittersRCV000626917 RCV000701379 RCV001330491

NM_004975.4(KCNB1):c.935G>A (p.Arg312His)

SNV
Germline

Chr20:49374625

Pathogenic/Likely pathogenic

6 conditions
Epileptic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts
Intellectual disability
Condition: not provided
developmental encephalopathy with epilepsy
Developmental and epileptic encephalopathy, 26

Criteria Provided
Multiple Submitters
No Conflicts

CA409016309

rs_1555889127

11 SubmittersRCV000626870 RCV000782148 RCV001249561 RCV001257726 RCV001171607 RCV001249555 RCV001868163

NM_006279.5(ST3GAL3):c.303-9A>G

SNV
Germline

Chr1:43894374

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 15

Criteria Provided
Conflicting Classifications

CA814654

rs_762536905

2 SubmittersRCV000636605 RCV001333512

NM_006279.5(ST3GAL3):c.1038+7G>A

SNV
Germline

Chr1:43920935

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA814867

rs_753703868

2 SubmittersRCV000636543 RCV004791654

NM_001165963.4(SCN1A):c.5263G>T (p.Asp1755Tyr)

SNV
Germline

Chr2:165992012

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349068333

rs_927722314

1 SubmittersRCV000636304

NM_001165963.4(SCN1A):c.4333A>T (p.Arg1445Ter)

SNV
Germline

Chr2:165999728

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349049539

rs_1553523142

1 SubmittersRCV000636325

NM_001165963.4(SCN1A):c.4052T>C (p.Leu1351Pro)

SNV
Germline

Chr2:166002704

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349050683

rs_1553525313

2 SubmittersRCV000636329 RCV001091664

NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)

SNV
Germline

Chr2:166002720

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349050752

rs_1553525337

4 SubmittersRCV000636368 RCV001731191 RCV001333849 RCV003488746

NM_001165963.4(SCN1A):c.2862G>T (p.Glu954Asp)

SNV
Germline

Chr2:166037860

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349061111

rs_1041924436

1 SubmittersRCV000636437

NM_001165963.4(SCN1A):c.1958T>A (p.Leu653Ter)

SNV
Germline

Chr2:166043754

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349067207

rs_1553544559

1 SubmittersRCV000636256

NM_001165963.4(SCN1A):c.1795G>T (p.Glu599Ter)

SNV
Germline

Chr2:166043917

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349067648

rs_1553544821

1 SubmittersRCV000636345

NM_001165963.4(SCN1A):c.5171C>T (p.Ala1724Val)

SNV
Germline

Chr2:165992104

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349068800

rs_1553520319

1 SubmittersRCV000636279

NM_001165963.4(SCN1A):c.5104G>A (p.Asp1702Asn)

SNV
Germline

Chr2:165992171

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1942691

rs_748333147

2 SubmittersRCV000636342 RCV004702225

NM_001165963.4(SCN1A):c.264+1G>C

SNV
Germline

Chr2:166073357

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349242598

rs_1553560677

1 SubmittersRCV000636380

NM_001165963.4(SCN1A):c.4477-1C>T

SNV
Germline

Chr2:165996118

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349048925

rs_1553521567

2 SubmittersRCV000636331 RCV002510580

NM_001165963.4(SCN1A):c.4453A>G (p.Asn1485Asp)

SNV
Germline

Chr2:165998061

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349049182

rs_1553522331

1 SubmittersRCV000636398

NM_001165963.4(SCN1A):c.5597A>G (p.Asp1866Gly)

SNV
Germline

Chr2:165991678

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA16602232

rs_1553520029

1 SubmittersRCV000636288

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

SNV
Germline

Chr2:166043909

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1943246

rs_139403702

4 SubmittersRCV000828047 RCV000768076 RCV001400963 RCV003224357 RCV004702227

NM_001165963.4(SCN1A):c.4964G>C (p.Gly1655Ala)

SNV
Germline

Chr2:165992311

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349069969

rs_1553520439

1 SubmittersRCV000636401

NM_001165963.4(SCN1A):c.1278C>G (p.Tyr426Ter)

SNV
Germline

Chr2:166046869

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349070799

rs_146515561

1 SubmittersRCV000636340

NM_001165963.4(SCN1A):c.949T>C (p.Tyr317His)

SNV
Germline

Chr2:166051734

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349072487

rs_1553549461

2 SubmittersRCV000636370 RCV001092951

NM_001165963.4(SCN1A):c.752T>G (p.Met251Arg)

SNV
Germline

Chr2:166051931

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349073597

rs_1553549834

1 SubmittersRCV000636289

NM_001165963.4(SCN1A):c.1178G>C (p.Arg393Pro)

SNV
Germline

Chr2:166046969

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349071038

rs_121917927

1 SubmittersRCV000636355

NM_001165963.4(SCN1A):c.265-3C>G

SNV
Germline

Chr2:166058691

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA658795937

rs_1553553614

1 SubmittersRCV000636421

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

SNV
Germline

Chr2:165991462

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA59797796

rs_915676341

3 SubmittersRCV000636278 RCV001089689 RCV001706692

NM_001165963.4(SCN1A):c.5269G>C (p.Gly1757Arg)

SNV
Germline

Chr2:165992006

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349068320

rs_1553520227

1 SubmittersRCV000636358

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

SNV
Germline

Chr2:166002471

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349049860

rs_1553524865

1 SubmittersRCV000636436

NM_001165963.4(SCN1A):c.3886T>A (p.Leu1296Met)

SNV
Germline

Chr2:166009835

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
SUDDEN INFANT DEATH SYNDROME

Criteria Provided
Conflicting Classifications

CA349053526

rs_375896308

2 SubmittersRCV000636357 RCV001788307

NM_001165963.4(SCN1A):c.3G>A (p.Met1Ile)

SNV
Germline

Chr2:166073619

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA349243517

rs_1553561016

1 SubmittersRCV000636371

NM_006030.4(CACNA2D2):c.3099G>A (p.Arg1033=)

SNV
Germline

Chr3:50365184

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2418209

rs_769536562

2 SubmittersRCV000636261 RCV003117444

NM_021072.4(HCN1):c.1522G>A (p.Val508Met)

SNV
Germline

Chr5:45303695

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 10

Criteria Provided
Conflicting Classifications

CA3259274

rs_180790607

3 SubmittersRCV000636328 RCV001815359 RCV004783831

NM_021072.4(HCN1):c.1980G>A (p.Met660Ile)

SNV
Germline

Chr5:45262614

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA359704300

rs_1335934380

3 SubmittersRCV000636396 RCV001547515

NM_001130438.3(SPTAN1):c.6370C>T (p.Arg2124Cys)

SNV
Germline

Chr9:128626481

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA375088545

rs_1193718145

1 SubmittersRCV000636277

NM_001130438.3(SPTAN1):c.7012A>G (p.Lys2338Glu)

SNV
Germline

Chr9:128632483

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA375099898

rs_1554769099

1 SubmittersRCV000636363

NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp)

SNV
Germline

Chr9:128607858

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

CA5265135

rs_770189298

3 SubmittersRCV000636432 RCV000839031 RCV001809709

NM_001191061.2(SLC25A22):c.271C>T (p.Arg91Ter)

SNV
Germline

Chr11:793551

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA216947427

rs_936639741

2 SubmittersRCV000636290 RCV002283501

NM_001330260.2(SCN8A):c.1519G>C (p.Glu507Gln)

SNV
Germline

Chr12:51706599

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Cognitive impairment with or without cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA6571272

rs_777851383

3 SubmittersRCV000636433 RCV001591417 RCV001526836

NM_001330260.2(SCN8A):c.3163C>T (p.Arg1055Trp)

SNV
Germline

Chr12:51769126

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
See cases

Criteria Provided
Conflicting Classifications

CA6571554

rs_370141803

2 SubmittersRCV000636346 RCV002252185

NM_001330260.2(SCN8A):c.5506A>G (p.Met1836Val)

SNV
Germline

Chr12:51806992

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6571926

rs_202187894

4 SubmittersRCV000636317 RCV000658649 RCV004586845

NM_001330260.2(SCN8A):c.4774G>A (p.Val1592Ile)

SNV
Germline

Chr12:51794620

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 13

Criteria Provided
Conflicting Classifications

CA384879341

rs_587780454

2 SubmittersRCV000636403 RCV003493686

NM_139318.5(KCNH5):c.787G>A (p.Val263Ile)

SNV
Germline

Chr14:62981027

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy 112

Criteria Provided
Conflicting Classifications

CA7217591

rs_760127525

2 SubmittersRCV000636352 RCV004799226

NM_139318.5(KCNH5):c.2365G>T (p.Gly789Cys)

SNV
Germline

Chr14:62708110

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7217264

rs_140205536

2 SubmittersRCV000636550 RCV004629264

NM_139318.5(KCNH5):c.2828C>T (p.Ser943Leu)

SNV
Germline

Chr14:62707647

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

CA7217178

rs_761523326

2 SubmittersRCV000636271

NM_020988.3(GNAO1):c.813G>C (p.Lys271Asn)

SNV
Germline

Chr16:56351473

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA395954788

rs_758779535

1 SubmittersRCV000636427

NM_173728.4(ARHGEF15):c.2393C>A (p.Pro798His)

SNV
Germline

Chr17:8320860

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified

Criteria Provided
Conflicting Classifications

CA8375528

rs_202178259

2 SubmittersRCV000636262 RCV004025474

NM_172107.4(KCNQ2):c.1526-6C>A

SNV
Germline

Chr20:63414199

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9958414

rs_763503121

3 SubmittersRCV000636353 RCV001836854 RCV004629263

NM_172107.4(KCNQ2):c.1086C>G (p.Tyr362Ter)

SNV
Germline

Chr20:63433841

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA409651102

rs_747376305

1 SubmittersRCV000636284

NM_172107.4(KCNQ2):c.1003C>T (p.Pro335Ser)

SNV
Germline

Chr20:63438645

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

CA409652083

rs_1555869700

1 SubmittersRCV000636429

NM_001032221.6(STXBP1):c.685C>T (p.Gln229Ter)

SNV
Germline

Chr9:127666187

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554777470

3 SubmittersRCV000657782 RCV001202015 RCV001265417

NM_001330260.2(SCN8A):c.1349C>T (p.Ala450Val)

SNV
Germline

Chr12:51706429

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_755154133

3 SubmittersRCV000658199 RCV003588660

NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile)

SNV
Germline

Chr12:51794480

Conflicting classifications of pathogenicity

Seizures, benign familial infantile, 5
Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_759753811

3 SubmittersRCV000660650 RCV001493054 RCV002334226

NM_001165963.4(SCN1A):c.3851G>A (p.Trp1284Ter)

SNV
Germline

Chr2:166012137

Pathogenic

Primary generalized epilepsy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1559144583

2 SubmittersRCV000678840 RCV001868296

NM_001032221.6(STXBP1):c.79G>T (p.Glu27Ter)

SNV
Germline

Chr9:127651644

Pathogenic

Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564346538

2 SubmittersRCV000680112 RCV003753152

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

SNV
Germline

Chr2:165991807

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559101839

4 SubmittersRCV000693631 RCV001200252 RCV001253286

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

SNV
Germline

Chr2:165996008

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559114303

2 SubmittersRCV000692314 RCV002289971

NM_001165963.4(SCN1A):c.4002+2T>C

SNV
Germline

Chr2:166009717

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1559140110

1 SubmittersRCV000688127

NM_001165963.4(SCN1A):c.3783C>G (p.Tyr1261Ter)

SNV
Germline

Chr2:166012205

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1043031572

1 SubmittersRCV000687317

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

SNV
Germline

Chr2:166013743

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_794726744

1 SubmittersRCV000702514

NM_001165963.4(SCN1A):c.2948T>A (p.Val983Asp)

SNV
Germline

Chr2:166036529

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121918756

1 SubmittersRCV000688318

NM_001165963.4(SCN1A):c.2800A>G (p.Met934Val)

SNV
Germline

Chr2:166037922

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559199628

2 SubmittersRCV000695864 RCV003235356

NM_001165963.4(SCN1A):c.2354T>G (p.Met785Arg)

SNV
Germline

Chr2:166041292

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_796053095

1 SubmittersRCV000705575

NM_001165963.4(SCN1A):c.1153G>C (p.Glu385Gln)

SNV
Germline

Chr2:166047644

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_796052972

1 SubmittersRCV000689931

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

SNV
Germline

Chr2:166051741

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553549471

1 SubmittersRCV000693359

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

SNV
Germline

Chr2:166054683

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1559245847

2 SubmittersRCV000703113 RCV004796286

NM_001165963.4(SCN1A):c.5267G>A (p.Cys1756Tyr)

SNV
Germline

Chr2:165992008

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1559103294

1 SubmittersRCV000701720

NM_001165963.4(SCN1A):c.5222G>C (p.Cys1741Ser)

SNV
Germline

Chr2:165992053

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_794726763

1 SubmittersRCV000700259

NM_001165963.4(SCN1A):c.4976T>C (p.Leu1659Pro)

SNV
Germline

Chr2:165992299

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1559105368

1 SubmittersRCV000695436

NM_001165963.4(SCN1A):c.4541T>G (p.Leu1514Ter)

SNV
Germline

Chr2:165996053

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121918764

1 SubmittersRCV000706022

NM_001165963.4(SCN1A):c.4512G>C (p.Gln1504His)

SNV
Germline

Chr2:165996082

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1559114837

1 SubmittersRCV000703998

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

SNV
Germline

Chr2:165999742

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Acute encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559122124

2 SubmittersRCV000696751 RCV001251425

NM_001165963.4(SCN1A):c.4216G>T (p.Ala1406Ser)

SNV
Germline

Chr2:166002540

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1559127505

1 SubmittersRCV000686244

NM_001165963.4(SCN1A):c.3880-1G>T

SNV
Germline

Chr2:166009842

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1559140855

1 SubmittersRCV000704404

NM_001165963.4(SCN1A):c.3787T>C (p.Phe1263Leu)

SNV
Germline

Chr2:166012201

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1559144956

2 SubmittersRCV000700072 RCV003140110

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

SNV
Germline

Chr2:166013838

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559149128

2 SubmittersRCV000703313 RCV000986888

NM_001165963.4(SCN1A):c.3224A>G (p.Tyr1075Cys)

SNV
Germline

Chr2:166036253

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1226603266

3 SubmittersRCV001486218 RCV003432743

NM_001165963.4(SCN1A):c.423C>A (p.Asn141Lys)

SNV
Germline

Chr2:166056461

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1559249734

1 SubmittersRCV000707710

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

SNV
Germline

Chr2:166058642

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553553527

2 SubmittersRCV000687341 RCV002283507

NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln)

SNV
Germline

Chr2:165991618

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_1559100385

3 SubmittersRCV000685637 RCV001541571 RCV003323683

NM_001165963.4(SCN1A):c.4783C>A (p.Leu1595Ile)

SNV
Germline

Chr2:165994215

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756238700

3 SubmittersRCV000689911 RCV002263933

NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg)

SNV
Germline

Chr2:166012236

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified

Criteria Provided
Conflicting Classifications

rs_749638533

2 SubmittersRCV000704402 RCV003323695

NM_001165963.4(SCN1A):c.1001T>C (p.Leu334Pro)

SNV
Germline

Chr2:166048913

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1559231284

1 SubmittersRCV000705801

NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr)

SNV
Germline

Chr2:166058574

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_148442069

2 SubmittersRCV000706754 RCV002249425

NM_006030.4(CACNA2D2):c.478G>A (p.Val160Met)

SNV
Germline

Chr3:50387600

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_779423998

2 SubmittersRCV000688567 RCV002547127

NM_001165963.4(SCN1A):c.4216G>A (p.Ala1406Thr)

SNV
Germline

Chr2:166002540

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559127505

2 SubmittersRCV000699236 RCV004692159

NM_001165963.4(SCN1A):c.4057G>T (p.Val1353Phe)

SNV
Germline

Chr2:166002699

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
SCN1A-related disorder

Criteria Provided
Single Submitter

rs_121917954

2 SubmittersRCV000700817 RCV004527750

NM_001165963.4(SCN1A):c.3597C>T (p.Gly1199=)

SNV
Germline

Chr2:166013852

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376901032

2 SubmittersRCV000700240 RCV001549456

NM_001165963.4(SCN1A):c.2997C>G (p.Asn999Lys)

SNV
Germline

Chr2:166036480

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1559195296

1 SubmittersRCV000703775

NM_001165963.4(SCN1A):c.1306G>T (p.Glu436Ter)

SNV
Germline

Chr2:166046841

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553546763

1 SubmittersRCV000706152

NM_001165963.4(SCN1A):c.797T>C (p.Leu266Pro)

SNV
Germline

Chr2:166051886

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559238432

2 SubmittersRCV000699313 RCV002263940

NM_021072.4(HCN1):c.2390T>G (p.Val797Gly)

SNV
Germline

Chr5:45262204

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 24
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150936707

3 SubmittersRCV000699512 RCV000764610 RCV001662772

NM_021072.4(HCN1):c.280A>G (p.Met94Val)

SNV
Germline

Chr5:45695814

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_773441535

2 SubmittersRCV000702096 RCV004972888

NM_006030.4(CACNA2D2):c.1908-6C>G

SNV
Germline

Chr3:50374819

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200831326

3 SubmittersRCV000694239 RCV004586885 RCV002532256

NM_006030.4(CACNA2D2):c.1555C>T (p.Gln519Ter)

SNV
Germline

Chr3:50377538

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Cerebellar atrophy with seizures and variable developmental delay

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559887808

2 SubmittersRCV000701245 RCV002280138

NM_001032221.6(STXBP1):c.429+3G>A

SNV
Germline

Chr9:127661208

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368213197

2 SubmittersRCV000702916 RCV001653981

NM_001032221.6(STXBP1):c.817G>T (p.Glu273Ter)

SNV
Germline

Chr9:127668102

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1564352002

1 SubmittersRCV000694876

NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)

SNV
Germline

Chr9:127682510

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 4
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV000686294 RCV001270414 RCV002544743

NM_001130438.3(SPTAN1):c.1581T>A (p.Asp527Glu)

SNV
Germline

Chr9:128582487

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_971082831

3 SubmittersRCV003994091 RCV001492309 RCV002397473

NM_001032221.6(STXBP1):c.607C>T (p.Gln203Ter)

SNV
Germline

Chr9:127665275

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1564351103

1 SubmittersRCV000687594

NM_001130438.3(SPTAN1):c.3095G>A (p.Arg1032Gln)

SNV
Germline

Chr9:128591565

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_765075763

2 SubmittersRCV000702877 RCV004965699

NM_001330260.2(SCN8A):c.2945C>T (p.Ala982Val)

SNV
Germline

Chr12:51768908

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial infantile, 5

Criteria Provided
Conflicting Classifications

rs_1565917697

2 SubmittersRCV000696324 RCV002255511

NM_001330260.2(SCN8A):c.2983A>G (p.Asn995Asp)

SNV
Germline

Chr12:51768946

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 13

Criteria Provided
Conflicting Classifications

rs_1565917769

2 SubmittersRCV000698952 RCV001542340

NM_001330260.2(SCN8A):c.4800G>A (p.Met1600Ile)

SNV
Germline

Chr12:51806286

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1565933795

2 SubmittersRCV000695035 RCV001565909

NM_001330260.2(SCN8A):c.417G>A (p.Met139Ile)

SNV
Germline

Chr12:51686389

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Cognitive impairment with or without cerebellar ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565886685

2 SubmittersRCV000690219 RCV004594094

NM_001330260.2(SCN8A):c.4237A>G (p.Lys1413Glu)

SNV
Germline

Chr12:51788704

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1555228668

1 SubmittersRCV000685441

NM_001330260.2(SCN8A):c.4397A>G (p.Asn1466Ser)

SNV
Germline

Chr12:51789396

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_587777723

1 SubmittersRCV000685228

NM_001330260.2(SCN8A):c.5675G>A (p.Arg1892His)

SNV
Germline

Chr12:51807161

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1565934531

2 SubmittersRCV000687421 RCV000713159

NM_001130438.3(SPTAN1):c.3134G>A (p.Arg1045Gln)

SNV
Germline

Chr9:128591604

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_368406599

3 SubmittersRCV000702570 RCV004808853 RCV002325418

NM_172107.4(KCNQ2):c.2119G>A (p.Ala707Thr)

SNV
Germline

Chr20:63407144

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
KCNQ2-related disorder

Criteria Provided
Conflicting Classifications

rs_543477138

3 SubmittersRCV000700103 RCV002316002 RCV004544949

NM_172107.4(KCNQ2):c.817-10G>A

SNV
Germline

Chr20:63439718

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_375363057

1 SubmittersRCV000702811

NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val)

SNV
Germline

Chr12:51806965

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Cognitive impairment with or without cerebellar ataxia
Seizures, benign familial infantile, 5
Developmental and epileptic encephalopathy, 13
Inborn genetic diseases
Cognitive impairment with or without cerebellar ataxia
Seizures, benign familial infantile, 5
Developmental and epileptic encephalopathy, 13
Myoclonus, familial, 2

Criteria Provided
Conflicting Classifications

rs_764115258

4 SubmittersRCV000703318 RCV000763861 RCV002343547 RCV004796288

NM_139318.5(KCNH5):c.736G>T (p.Ala246Ser)

SNV
Germline

Chr14:62981078

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_114447363

2 SubmittersRCV000697032 RCV004629304

NM_172107.4(KCNQ2):c.1294C>T (p.Arg432Cys)

SNV
Germline

Chr20:63419626

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

rs_368720575

3 SubmittersRCV000697600 RCV002386220 RCV004782517

NM_172107.4(KCNQ2):c.1043C>T (p.Ala348Val)

SNV
Germline

Chr20:63433884

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1568916986

2 SubmittersRCV000687184 RCV003133512

NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser)

SNV
Germline

Chr20:63438720

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568925719

3 SubmittersRCV000699055 RCV001254917 RCV003329329

NM_172107.4(KCNQ2):c.774C>G (p.Asn258Lys)

SNV
Germline

Chr20:63442448

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7

Criteria Provided
Single Submitter

rs_770187706

2 SubmittersRCV000686133 RCV002281579 RCV002275104

NM_172107.4(KCNQ2):c.543G>A (p.Ala181=)

SNV
Germline

Chr20:63444806

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1447421194

2 SubmittersRCV000695952 RCV002466566

NM_172107.4(KCNQ2):c.1218-1G>A

SNV
Germline

Chr20:63424207

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1568899375

1 SubmittersRCV000690666

NM_172107.4(KCNQ2):c.812G>A (p.Gly271Asp)

SNV
Germline

Chr20:63442410

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_118192209

1 SubmittersRCV000684929

NM_172107.4(KCNQ2):c.788C>T (p.Thr263Ile)

SNV
Germline

Chr20:63442434

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1568932462

1 SubmittersRCV000693058

NM_172107.4(KCNQ2):c.641G>A (p.Arg214Gln)

SNV
Germline

Chr20:63444708

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057518555

3 SubmittersRCV000700920 RCV003987673 RCV004721564

NM_172107.4(KCNQ2):c.375C>T (p.Ala125=)

SNV
Germline

Chr20:63446759

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1568944870

2 SubmittersRCV000712088 RCV001431563

NM_001165963.4(SCN1A):c.4574G>A (p.Arg1525Gln)

SNV
Germline

Chr2:165996020

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1559114408

3 SubmittersRCV000795943 RCV003106035 RCV002316697

NM_001165963.4(SCN1A):c.4384T>C (p.Tyr1462His)

SNV
Germline

Chr2:165998130

Pathogenic

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559119345

2 SubmittersRCV002317523 RCV001862072

NM_001165963.4(SCN1A):c.3152T>C (p.Leu1051Pro)

SNV
Germline

Chr2:166036325

Conflicting classifications of pathogenicity

Inborn genetic diseases
Developmental and epileptic encephalopathy 6B
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_776055539

3 SubmittersRCV002316150 RCV004788144 RCV001862022

NM_001165963.4(SCN1A):c.909A>G (p.Thr303=)

SNV
Germline

Chr2:166051774

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1559237625

2 SubmittersRCV002317507 RCV002534971

NM_001165963.4(SCN1A):c.1663-2A>G

SNV
Germline

Chr2:166044051

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_1085307520

2 SubmittersRCV001862025 RCV002314384

NM_001165963.4(SCN1A):c.652T>C (p.Phe218Leu)

SNV
Germline

Chr2:166052894

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_970867558

3 SubmittersRCV001862014 RCV002312318 RCV001567210

NM_021072.4(HCN1):c.2635C>A (p.Pro879Thr)

SNV
Germline

Chr5:45261959

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_761866949

2 SubmittersRCV002312350 RCV001034308

NM_001130438.3(SPTAN1):c.83G>A (p.Arg28His)

SNV
Germline

Chr9:128566823

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_747510615

2 SubmittersRCV002318858 RCV002534987

NM_001130438.3(SPTAN1):c.5924C>G (p.Ala1975Gly)

SNV
Germline

Chr9:128624419

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

rs_772780483

3 SubmittersRCV002318329 RCV001342128 RCV001809786

NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys)

SNV
Germline

Chr9:128625937

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1564315398

3 SubmittersRCV001034108 RCV001809778 RCV002316140

NM_001191061.2(SLC25A22):c.453G>A (p.Ser151=)

SNV
Germline

Chr11:792687

Conflicting classifications of pathogenicity

Early myoclonic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_559239495

3 SubmittersRCV001110856 RCV002067022 RCV002314425

NM_001330260.2(SCN8A):c.3048C>T (p.His1016=)

SNV
Germline

Chr12:51769011

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_777076650

3 SubmittersRCV001766582 RCV002316732 RCV003588673

NM_001330260.2(SCN8A):c.3327C>T (p.Asn1109=)

SNV
Germline

Chr12:51769290

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1349215930

4 SubmittersRCV000840212 RCV002060947 RCV002318189

NM_020988.3(GNAO1):c.274G>A (p.Gly92Ser)

SNV
Germline

Chr16:56276043

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1309389793

2 SubmittersRCV002318267 RCV002060950

NM_020988.3(GNAO1):c.520G>A (p.Asp174Asn)

SNV
Germline

Chr16:56334784

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1567488305

2 SubmittersRCV002318276 RCV002534983

NM_172107.4(KCNQ2):c.584C>T (p.Ser195Phe)

SNV
Germline

Chr20:63444765

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568940442

2 SubmittersRCV001322352 RCV002318363

NM_172107.4(KCNQ2):c.921G>A (p.Leu307=)

SNV
Germline

Chr20:63439604

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_539406802

2 SubmittersRCV000727908 RCV002067080

NM_021072.4(HCN1):c.240C>A (p.Gly80=)

SNV
Germline

Chr5:45695854

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_373664268

7 SubmittersRCV000728680 RCV001083080 RCV002458337

NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val)

SNV
Germline

Chr1:181724496

Pathogenic

Developmental and epileptic encephalopathy, 69
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Single Submitter

rs_1558308998

4 SubmittersRCV000754088 RCV001849433 RCV001855850

NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile)

SNV
Germline

Chr9:128633216

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_746532292

4 SubmittersRCV000762577 RCV001253699 RCV001391698

NM_006030.4(CACNA2D2):c.861G>C (p.Ser287=)

SNV
Germline

Chr3:50380000

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
CACNA2D2-related disorder
Cerebellar atrophy with seizures and variable developmental delay

Criteria Provided
Conflicting Classifications

rs_771844125

3 SubmittersRCV001438580 RCV003975313 RCV003224431

NM_001130438.3(SPTAN1):c.2287G>A (p.Val763Met)

SNV
Germline

Chr9:128584375

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_372062686

3 SubmittersRCV000768321 RCV001869061 RCV002533944

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

3 SubmittersRCV000770782 RCV001004769 RCV001216747

NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu)

SNV
Germline

Chr2:166009753

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1057521746

2 SubmittersRCV000781833 RCV001054959

NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr)

SNV
Germline

Chr2:166073419

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_758871507

5 SubmittersRCV000781834 RCV000819544 RCV001759474

NM_001165963.4(SCN1A):c.1171-19C>A

SNV
Germline

Chr2:166046995

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_929127955

2 SubmittersRCV000780699 RCV002067370

NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser)

SNV
Germline

Chr5:45396551

Pathogenic

Generalized epilepsy with febrile seizures plus, type 10
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 24
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1561139569

5 SubmittersRCV000786049 RCV001382081 RCV002290034 RCV001731925

NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His)

SNV
Germline

Chr2:166043692

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 1
Generalized epilepsy with febrile seizures plus, type 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1574214734

2 SubmittersRCV000791093 RCV000791092 RCV001036370

NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)

SNV
Germline

Chr2:165374935

Likely pathogenic

Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 11
Complex neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1574716488

4 SubmittersRCV000805576 RCV001849109 RCV000853351 RCV001265329

NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp)

SNV
Germline

Chr2:165991313

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
See cases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756519197

4 SubmittersRCV000810745 RCV002252246 RCV002264001

NM_001165963.4(SCN1A):c.5767C>A (p.Gln1923Lys)

SNV
Germline

Chr2:165991508

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553519865

1 SubmittersRCV000806046

NM_001165963.4(SCN1A):c.4925G>T (p.Arg1642Met)

SNV
Germline

Chr2:165992350

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1573952908

2 SubmittersRCV000815477 RCV004720003

NM_001165963.4(SCN1A):c.4682A>G (p.Glu1561Gly)

SNV
Germline

Chr2:165994316

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1573964264

1 SubmittersRCV000816783

NM_001165963.4(SCN1A):c.4631A>G (p.Asp1544Gly)

SNV
Germline

Chr2:165994367

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1573964628

1 SubmittersRCV000810151

NM_001165963.4(SCN1A):c.4556C>G (p.Pro1519Arg)

SNV
Germline

Chr2:165996038

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_372425457

1 SubmittersRCV000820559

NM_001165963.4(SCN1A):c.4512G>T (p.Gln1504His)

SNV
Germline

Chr2:165996082

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1559114837

2 SubmittersRCV000796639 RCV001592977

NM_001165963.4(SCN1A):c.4159A>G (p.Ile1387Val)

SNV
Germline

Chr2:166002597

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_764507532

2 SubmittersRCV003226985 RCV000824524

NM_001165963.4(SCN1A):c.4048G>C (p.Val1350Leu)

SNV
Germline

Chr2:166002708

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1574006637

1 SubmittersRCV000810423

NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser)

SNV
Germline

Chr2:166002723

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy 6B

Criteria Provided
Single Submitter

rs_1574006857

2 SubmittersRCV000814237 RCV001420538

NM_001165963.4(SCN1A):c.3929G>A (p.Gly1310Glu)

SNV
Germline

Chr2:166009792

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1574039742

1 SubmittersRCV000822869

NM_001165963.4(SCN1A):c.3925C>G (p.Leu1309Val)

SNV
Germline

Chr2:166009796

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121918801

1 SubmittersRCV000821070

NM_001165963.4(SCN1A):c.3812G>A (p.Trp1271Ter)

SNV
Germline

Chr2:166012176

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1574051496

1 SubmittersRCV000816654

NM_001165963.4(SCN1A):c.3689T>C (p.Leu1230Pro)

SNV
Germline

Chr2:166013760

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1574060250

1 SubmittersRCV000804796

NM_001165963.4(SCN1A):c.3629C>T (p.Thr1210Met)

SNV
Germline

Chr2:166013820

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_121918738

2 SubmittersRCV000814810 RCV002453849

NM_001165963.4(SCN1A):c.2860G>C (p.Glu954Gln)

SNV
Germline

Chr2:166037862

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121918786

1 SubmittersRCV000819723

NM_001165963.4(SCN1A):c.2802G>A (p.Met934Ile)

SNV
Germline

Chr2:166037920

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121918774

1 SubmittersRCV000823725

NM_001165963.4(SCN1A):c.2729A>T (p.Gln910Leu)

SNV
Germline

Chr2:166037993

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1064795735

1 SubmittersRCV000806987

NM_001165963.4(SCN1A):c.2579C>A (p.Ser860Ter)

SNV
Germline

Chr2:166039433

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

rs_1574192005

2 SubmittersRCV000818091 RCV002463740

NM_001165963.4(SCN1A):c.2495G>A (p.Trp832Ter)

SNV
Germline

Chr2:166039517

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1574192998

1 SubmittersRCV000806866

NM_001165963.4(SCN1A):c.1278C>A (p.Tyr426Ter)

SNV
Germline

Chr2:166046869

Pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_146515561

2 SubmittersRCV004577950 RCV000816991

NM_001165963.4(SCN1A):c.1248T>A (p.Asn416Lys)

SNV
Germline

Chr2:166046899

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_748267258

1 SubmittersRCV000806659

NM_001165963.4(SCN1A):c.1151G>C (p.Trp384Ser)

SNV
Germline

Chr2:166047646

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553547380

1 SubmittersRCV000803142

NM_001165963.4(SCN1A):c.1028G>C (p.Gly343Ala)

SNV
Germline

Chr2:166048886

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121918753

1 SubmittersRCV000803742

NM_001165963.4(SCN1A):c.746A>G (p.Asp249Gly)

SNV
Germline

Chr2:166051937

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_762927460

1 SubmittersRCV000818172

NM_001165963.4(SCN1A):c.673A>G (p.Lys225Glu)

SNV
Germline

Chr2:166052873

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1574271827

1 SubmittersRCV000806441

NM_001165963.4(SCN1A):c.638C>T (p.Ser213Leu)

SNV
Germline

Chr2:166052908

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_754661378

3 SubmittersRCV000823411 RCV001585765 RCV002363173

NM_001165963.4(SCN1A):c.248A>G (p.Tyr83Cys)

SNV
Germline

Chr2:166073374

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1574371399

1 SubmittersRCV000796600

NM_001165963.4(SCN1A):c.118G>A (p.Asp40Asn)

SNV
Germline

Chr2:166073504

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1574373061

2 SubmittersRCV000793046 RCV004719990

NM_021072.4(HCN1):c.2491G>A (p.Gly831Ser)

SNV
Germline

Chr5:45262103

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_780209007

2 SubmittersRCV000817889 RCV002427030

NM_021072.4(HCN1):c.2353C>T (p.Pro785Ser)

SNV
Germline

Chr5:45262241

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
HCN1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_778039525

3 SubmittersRCV000799789 RCV003396396 RCV003886439

NM_001032221.6(STXBP1):c.578G>T (p.Gly193Val)

SNV
Germline

Chr9:127663353

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1588313568

1 SubmittersRCV000804423

NM_001032221.6(STXBP1):c.1141G>C (p.Glu381Gln)

SNV
Germline

Chr9:127675834

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_762767233

2 SubmittersRCV000794359 RCV004777868

NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg)

SNV
Germline

Chr9:128624376

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_142498180

5 SubmittersRCV000793865 RCV001564471 RCV001809808 RCV002352320

NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser)

SNV
Germline

Chr9:128626605

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Neuronopathy, distal hereditary motor, autosomal dominant 11
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
Developmental delay with or without epilepsy
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

rs_1589389281

2 SubmittersRCV000797858 RCV004731035

NM_001130438.3(SPTAN1):c.6826G>A (p.Ala2276Thr)

SNV
Germline

Chr9:128632190

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_375244907

2 SubmittersRCV000796040 RCV004965741

NM_001330260.2(SCN8A):c.95G>A (p.Ser32Asn)

SNV
Germline

Chr12:51662912

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_375419028

3 SubmittersRCV000802422 RCV001091241

NM_014191.4(SCN8A):c.669G>T (p.Arg223Ser)

SNV
Germline

Chr12:51688812

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592380672

2 SubmittersRCV000823620 RCV003236850

NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His)

SNV
Germline

Chr12:51702874

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Cognitive impairment with or without cerebellar ataxia
Developmental and epileptic encephalopathy, 13
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1592390511

4 SubmittersRCV000796166 RCV002249508 RCV003224880 RCV003328629

NM_001330260.2(SCN8A):c.1475G>A (p.Arg492His)

SNV
Germline

Chr12:51706555

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
SCN8A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_750170064

3 SubmittersRCV000824357 RCV004538133 RCV002538199

NM_001330260.2(SCN8A):c.1790G>A (p.Arg597His)

SNV
Germline

Chr12:51721700

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Spastic ataxia

Criteria Provided
Conflicting Classifications

rs_755358223

2 SubmittersRCV000797517 RCV001644826

NM_001330260.2(SCN8A):c.2671G>A (p.Val891Met)

SNV
Germline

Chr12:51765797

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1592149793

1 SubmittersRCV000814384

NM_001330260.2(SCN8A):c.2900T>G (p.Val967Gly)

SNV
Germline

Chr12:51766026

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1592149906

1 SubmittersRCV000805968

NM_001330260.2(SCN8A):c.3944T>C (p.Val1315Ala)

SNV
Germline

Chr12:51786543

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial infantile, 5
Developmental and epileptic encephalopathy, 13

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592162415

2 SubmittersRCV000796212 RCV004799237

NM_001330260.2(SCN8A):c.4049C>T (p.Ala1350Val)

SNV
Germline

Chr12:51786648

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1592162506

1 SubmittersRCV000796655

NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu)

SNV
Germline

Chr12:51790470

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 13
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1555228931

3 SubmittersRCV000791710 RCV000988849 RCV001759488

NM_001330260.2(SCN8A):c.4944G>C (p.Leu1648Phe)

SNV
Germline

Chr12:51806430

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 13

Criteria Provided
Conflicting Classifications

rs_773587801

2 SubmittersRCV000822358 RCV003444110

NM_001330260.2(SCN8A):c.5558A>G (p.Lys1853Arg)

SNV
Germline

Chr12:51807044

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
SCN8A-related disorder

Criteria Provided
Conflicting Classifications

rs_1410900258

6 SubmittersRCV000791829 RCV000992913 RCV004735803

NM_139318.5(KCNH5):c.1579A>T (p.Ile527Phe)

SNV
Germline

Chr14:62802572

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_149561461

2 SubmittersRCV000815311 RCV001420591

NM_020988.3(GNAO1):c.140G>A (p.Ser47Asn)

SNV
Germline

Chr16:56192595

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 17

Criteria Provided
Multiple Submitters
No Conflicts

rs_1596787821

2 SubmittersRCV000794940 RCV002272357

NM_020988.3(GNAO1):c.397G>A (p.Gly133Ser)

SNV
Germline

Chr16:56328724

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374115337

3 SubmittersRCV000797207 RCV002352336 RCV003130045

NM_172107.4(KCNQ2):c.829A>C (p.Thr277Pro)

SNV
Germline

Chr20:63439696

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1555870554

1 SubmittersRCV000797717

NM_172107.4(KCNQ2):c.830C>A (p.Thr277Asn)

SNV
Germline

Chr20:63439695

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1600755607

1 SubmittersRCV000823209

NM_172107.4(KCNQ2):c.847A>G (p.Lys283Glu)

SNV
Germline

Chr20:63439678

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1600755429

1 SubmittersRCV000803676

NM_172107.4(KCNQ2):c.1003C>G (p.Pro335Ala)

SNV
Germline

Chr20:63438645

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1555869700

1 SubmittersRCV000801187

NM_172107.4(KCNQ2):c.1898T>C (p.Met633Thr)

SNV
Germline

Chr20:63407365

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_777332271

2 SubmittersRCV000800197 RCV003166188

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

SNV
Germline

Chr2:165994145

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1573962555

1 SubmittersRCV000808951

NM_001165963.4(SCN1A):c.3550+2T>C

SNV
Germline

Chr2:166015605

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1574068971

1 SubmittersRCV000815834

NM_001165963.4(SCN1A):c.1170+5G>A

SNV
Germline

Chr2:166047622

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1057524737

1 SubmittersRCV000800334

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

SNV
Germline

Chr2:166051718

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1574263047

1 SubmittersRCV000808196

NM_006030.4(CACNA2D2):c.1389+2T>C

SNV
Germline

Chr3:50378282

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1575601202

1 SubmittersRCV000799128

NM_001032221.6(STXBP1):c.664-1G>C

SNV
Germline

Chr9:127666165

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1554777464

1 SubmittersRCV000818065

NM_001191061.2(SLC25A22):c.412+8C>T

SNV
Germline

Chr11:792862

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Early myoclonic encephalopathy

Criteria Provided
Conflicting Classifications

rs_760438511

2 SubmittersRCV000816963 RCV001112849

NM_172107.4(KCNQ2):c.927+1G>C

SNV
Germline

Chr20:63439597

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1555870346

1 SubmittersRCV000815668

NM_001165963.4(SCN1A):c.5656C>A (p.Arg1886=)

SNV
Germline

Chr2:165991619

Conflicting classifications of pathogenicity

Condition: not provided
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_779614747

3 SubmittersRCV000842353 RCV001136461 RCV001136460 RCV001393361

NM_001165963.4(SCN1A):c.4095C>T (p.Gly1365=)

SNV
Germline

Chr2:166002661

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_372749240

3 SubmittersRCV001132202 RCV001132203 RCV000831426 RCV001445654

NM_001130438.3(SPTAN1):c.3941G>A (p.Cys1314Tyr)

SNV
Germline

Chr9:128605372

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_776648566

3 SubmittersRCV000841747 RCV001809858 RCV001367758

NM_001130438.3(SPTAN1):c.4027C>T (p.Arg1343Cys)

SNV
Germline

Chr9:128605458

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_138827421

2 SubmittersRCV000840118 RCV001858435

NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr)

SNV
Germline

Chr9:128632846

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

rs_145054594

5 SubmittersRCV000840160 RCV001047044 RCV001809857

NM_001330260.2(SCN8A):c.4892T>C (p.Ile1631Thr)

SNV
Germline

Chr12:51806378

Conflicting classifications of pathogenicity

Intellectual disability
Autism
Seizure
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1085307999

2 SubmittersRCV000851494 RCV001858503

NM_002080.4(GOT2):c.1097G>T (p.Gly366Val)

SNV
Germline

Chr16:58709490

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 82

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597696047

3 SubmittersRCV000851528 RCV000984859

NM_002080.4(GOT2):c.1009C>G (p.Arg337Gly)

SNV
Germline

Chr16:58716024

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 82

Criteria Provided
Single Submitter

rs_1247507359

2 SubmittersRCV000851526 RCV000984857

NM_002080.4(GOT2):c.784C>G (p.Arg262Gly)

SNV
Germline

Chr16:58716732

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 82

Criteria Provided
Multiple Submitters
No Conflicts

rs_752927520

3 SubmittersRCV000851527 RCV000984858

NM_172107.4(KCNQ2):c.727C>G (p.Leu243Val)

SNV
Germline

Chr20:63442495

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_118192205

2 SubmittersRCV000853266 RCV003768630

NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn)

SNV
Germline

Chr20:63442447

Conflicting classifications of pathogenicity

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_777257591

2 SubmittersRCV000853534 RCV001217360

NM_001165963.4(SCN1A):c.2838C>T (p.Arg946=)

SNV
Germline

Chr2:166037884

Conflicting classifications of pathogenicity

Condition: not provided
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

rs_764174474

4 SubmittersRCV000861427 RCV001133246 RCV001133247 RCV001473166 RCV004735830

NM_173728.4(ARHGEF15):c.178C>G (p.Pro60Ala)

SNV
Germline

Chr17:8312217

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified

Criteria Provided
Conflicting Classifications

rs_149371094

2 SubmittersRCV000862800 RCV004029319

NM_173728.4(ARHGEF15):c.256G>A (p.Asp86Asn)

SNV
Germline

Chr17:8312295

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146257701

2 SubmittersRCV000861910 RCV003227870

NM_173728.4(ARHGEF15):c.652C>T (p.Arg218Trp)

SNV
Germline

Chr17:8312972

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified

Criteria Provided
Conflicting Classifications

rs_200767050

2 SubmittersRCV000862278 RCV004029308

NM_006030.4(CACNA2D2):c.406-7C>T

SNV
Germline

Chr3:50394175

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified

Criteria Provided
Conflicting Classifications

rs_186631992

2 SubmittersRCV000862019 RCV001816938

NM_021072.4(HCN1):c.2507C>T (p.Pro836Leu)

SNV
Germline

Chr5:45262087

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368989823

2 SubmittersRCV001449135 RCV003480886

NM_139318.5(KCNH5):c.515C>G (p.Thr172Arg)

SNV
Germline

Chr14:62987106

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_34764419

3 SubmittersRCV000865513 RCV002536278 RCV004705818

NM_021072.4(HCN1):c.425+7G>T

SNV
Germline

Chr5:45695662

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_759096969

2 SubmittersRCV000865258 RCV003130081

NM_001330260.2(SCN8A):c.5847T>C (p.Ser1949=)

SNV
Germline

Chr12:51807333

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_751637843

2 SubmittersRCV000871600 RCV001495223

NM_001330260.2(SCN8A):c.668G>C (p.Arg223Thr)

SNV
Germline

Chr12:51689058

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1592380859

2 SubmittersRCV000924907 RCV001399312

NM_021072.4(HCN1):c.1510C>T (p.Arg504Ter)

SNV
Germline

Chr5:45303707

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_35229491

2 SubmittersRCV002066109 RCV003235435

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

SNV
Germline

Chr2:165992014

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_796053036

2 SubmittersRCV000986870 RCV001380827

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

SNV
Germline

Chr2:165992413

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1573953706

2 SubmittersRCV000986872 RCV001206932

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

SNV
Germline

Chr2:165998086

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1573984110

2 SubmittersRCV000986879 RCV001070314

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

SNV
Germline

Chr2:166002754

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1574007140

2 SubmittersRCV000986882 RCV001869341

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 epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1574166948

4 SubmittersRCV000986892 RCV001593162 RCV002549674

NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile)

SNV
Germline

Chr2:166038036

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_745378416

2 SubmittersRCV001204733 RCV002298811

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

SNV
Germline

Chr2:166042337

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1574209023

2 SubmittersRCV000986901 RCV001382871

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

SNV
Germline

Chr2:166051853

Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1574264920

2 SubmittersRCV000986911 RCV001338678

NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn)

SNV
Germline

Chr16:56192598

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 17

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555499800

2 SubmittersRCV002549730 RCV000989602

NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu)

SNV
Germline

Chr20:63407266

Conflicting classifications of pathogenicity

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7
not specified

Criteria Provided
Conflicting Classifications

rs_762130930

4 SubmittersRCV000990328 RCV001038267 RCV001198062 RCV003483749

NM_172107.4(KCNQ2):c.1149-1G>T

SNV
Germline

Chr20:63428436

Pathogenic/Likely pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1600714727

2 SubmittersRCV000990330 RCV001217211

NM_172107.4(KCNQ2):c.1742G>C (p.Arg581Pro)

SNV
Germline

Chr20:63413471

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_118192235

2 SubmittersRCV000992226 RCV001046813

NM_001165963.4(SCN1A):c.3712G>A (p.Glu1238Lys)

SNV
Germline

Chr2:166012276

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_750364705

2 SubmittersRCV000997275 RCV002550709

NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr)

SNV
Germline

Chr2:166013817

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1574060743

3 SubmittersRCV001373329 RCV000997276

NM_001165963.4(SCN1A):c.1546G>A (p.Asp516Asn)

SNV
Germline

Chr2:166045159

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_757923791

2 SubmittersRCV000997281 RCV002549971

NM_001165963.4(SCN1A):c.1271T>C (p.Met424Thr)

SNV
Germline

Chr2:166046876

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1574234690

3 SubmittersRCV000997284 RCV001061197 RCV002372718

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

SNV
Germline

Chr2:166054701

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1574281711

2 SubmittersRCV000997288 RCV002549972

NM_001165963.4(SCN1A):c.416T>G (p.Leu139Trp)

SNV
Germline

Chr2:166056468

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1553552378

2 SubmittersRCV000997291 RCV001050027

NM_001032221.6(STXBP1):c.1301C>T (p.Pro434Leu)

SNV
Germline

Chr9:127676695

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_773261815

3 SubmittersRCV000999216 RCV001308231

NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr)

SNV
Germline

Chr20:63444796

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Seizures, benign familial neonatal, 1
Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7

Criteria Provided
Conflicting Classifications

rs_1600786349

7 SubmittersRCV001068618 RCV000997805 RCV003128266 RCV001786422

NM_172107.4(KCNQ2):c.626T>C (p.Ile209Thr)

SNV
Germline

Chr20:63444723

Pathogenic

Seizure
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1600785769

2 SubmittersRCV001003342 RCV002549209

NM_020988.3(GNAO1):c.723+1G>A

SNV
Germline

Chr16:56336861

Pathogenic

Choreoathetosis
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1596872804

3 SubmittersRCV001003614 RCV001267357 RCV001862728

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

SNV
Germline

Chr2:165994322

Conflicting classifications of pathogenicity

Microcephaly
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1689707865

3 SubmittersRCV001252702 RCV004720031 RCV002549243

NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)

SNV
Germline

Chr20:63413523

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV001004718 RCV002549259 RCV004726775

NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)

SNV
Germline

Chr20:63413550

Pathogenic/Likely pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001004696 RCV002549258

NM_172107.4(KCNQ2):c.1411C>T (p.Gln471Ter)

SNV
Germline

Chr20:63415017

Pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001004668 RCV001860566

NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)

SNV
Germline

Chr20:63444699

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV001004723 RCV001359461 RCV001786424

NM_001032221.6(STXBP1):c.1461+1G>T

SNV
Germline

Chr9:127678533

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 4
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV001004748 RCV001541939 RCV001860567

NM_172107.4(KCNQ2):c.1041C>G (p.Tyr347Ter)

SNV
Germline

Chr20:63433886

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_770904422

2 SubmittersRCV001008677 RCV003753165

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

SNV
Germline

Chr2:166073380

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1684663181

2 SubmittersRCV001030755 RCV001379829

NM_001032221.6(STXBP1):c.1375C>T (p.Arg459Trp)

SNV
Germline

Chr9:127678446

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified
STXBP1-related disorder

Criteria Provided
Conflicting Classifications

rs_750968891

3 SubmittersRCV001034310 RCV001819737 RCV004740545

NM_001130438.3(SPTAN1):c.2117A>G (p.Tyr706Cys)

SNV
Germline

Chr9:128583893

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1473149290

2 SubmittersRCV001034462 RCV002416320

NM_001130438.3(SPTAN1):c.3035G>A (p.Arg1012His)

SNV
Germline

Chr9:128591505

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1265382491

3 SubmittersRCV001034344 RCV003160195 RCV003160196

NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr)

SNV
Germline

Chr9:128627470

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

rs_1858943245

3 SubmittersRCV001034491 RCV001332876

NM_001330260.2(SCN8A):c.887G>A (p.Gly296Asp)

SNV
Germline

Chr12:51699750

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1941653003

2 SubmittersRCV001034235 RCV001759720

NM_001330260.2(SCN8A):c.1516G>A (p.Gly506Arg)

SNV
Germline

Chr12:51706596

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
SCN8A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_758393038

3 SubmittersRCV001034276 RCV004536058 RCV004726799

NM_001330260.2(SCN8A):c.1969T>G (p.Ser657Ala)

SNV
Germline

Chr12:51721879

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1429377869

2 SubmittersRCV001034457 RCV003141937

NM_001330260.2(SCN8A):c.3703G>A (p.Ala1235Thr)

SNV
Germline

Chr12:51774246

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Cognitive impairment with or without cerebellar ataxia

Criteria Provided
Conflicting Classifications

rs_1942973895

2 SubmittersRCV001034028 RCV001330490

NM_001330260.2(SCN8A):c.5936A>C (p.Lys1979Thr)

SNV
Germline

Chr12:51807422

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1938739577

2 SubmittersRCV001034396 RCV003320789

NM_020988.3(GNAO1):c.793A>G (p.Ile265Val)

SNV
Germline

Chr16:56351453

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2037920534

2 SubmittersRCV001034087 RCV004030926

NM_001165963.4(SCN1A):c.2018T>C (p.Ile673Thr)

SNV
Germline

Chr2:166043694

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1315723631

2 SubmittersRCV001034230 RCV001593192

NM_021072.4(HCN1):c.1777C>G (p.Arg593Gly)

SNV
Germline

Chr5:45267095

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 10
Developmental and epileptic encephalopathy, 24
Inborn genetic diseases
Developmental and epileptic encephalopathy, 24

Criteria Provided
Conflicting Classifications

rs_989268235

4 SubmittersRCV001063315 RCV004799251 RCV003353140 RCV004794484

NM_021072.4(HCN1):c.1183G>A (p.Ala395Thr)

SNV
Germline

Chr5:45396539

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 24
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1739691061

3 SubmittersRCV001052150 RCV001253020 RCV003332290

NM_001032221.6(STXBP1):c.98T>A (p.Val33Glu)

SNV
Germline

Chr9:127653725

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1840653547

1 SubmittersRCV001051053

NM_001032221.6(STXBP1):c.145G>C (p.Asp49His)

SNV
Germline

Chr9:127653772

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1244732832

2 SubmittersRCV001038618 RCV003259039

NM_001032221.6(STXBP1):c.157G>T (p.Glu53Ter)

SNV
Germline

Chr9:127653784

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_749965674

1 SubmittersRCV001038009

NM_001032221.6(STXBP1):c.574C>T (p.Arg192Trp)

SNV
Germline

Chr9:127663349

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1841142873

2 SubmittersRCV001061997 RCV004789394

NM_001032221.6(STXBP1):c.1039C>G (p.His347Asp)

SNV
Germline

Chr9:127673190

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1841611651

1 SubmittersRCV001058311

NM_001032221.6(STXBP1):c.1258G>T (p.Glu420Ter)

SNV
Germline

Chr9:127676652

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1841766225

1 SubmittersRCV001052731

NM_003165.6(STXBP1):c.1749A>C (p.Arg583Ser)

SNV
Germline

Chr9:127684414

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_757607352

3 SubmittersRCV001050553 RCV003160396 RCV003480926

NM_001130438.3(SPTAN1):c.1834C>T (p.Gln612Ter)

SNV
Germline

Chr9:128583104

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1852152679

1 SubmittersRCV001041069

NM_001330260.2(SCN8A):c.765G>T (p.Met255Ile)

SNV
Germline

Chr12:51699628

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1941650264

1 SubmittersRCV001051151

NM_001330260.2(SCN8A):c.1106A>T (p.Gln369Leu)

SNV
Germline

Chr12:51702886

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1941714576

1 SubmittersRCV001047065

NM_001330260.2(SCN8A):c.2234T>C (p.Ile745Thr)

SNV
Germline

Chr12:51751457

Conflicting classifications of pathogenicity

Cognitive impairment with or without cerebellar ataxia
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1942593819

2 SubmittersRCV002554472 RCV001065006

NM_001330260.2(SCN8A):c.4948G>T (p.Ala1650Ser)

SNV
Germline

Chr12:51806434

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

rs_879255709

3 SubmittersRCV001037482 RCV004726809 RCV002275183

NM_020988.3(GNAO1):c.818A>T (p.Asp273Val)

SNV
Germline

Chr16:56351478

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2037920694

1 SubmittersRCV001068363

NM_172107.4(KCNQ2):c.2300G>A (p.Arg767Gln)

SNV
Germline

Chr20:63406963

Conflicting classifications of pathogenicity

Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_752551225

3 SubmittersRCV002479278 RCV001044833 RCV004629415

NM_172107.4(KCNQ2):c.1708C>T (p.Gln570Ter)

SNV
Germline

Chr20:63413505

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2080188103

1 SubmittersRCV001063329

NM_172107.4(KCNQ2):c.1688A>G (p.Asp563Gly)

SNV
Germline

Chr20:63413525

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2080189052

1 SubmittersRCV001037214

NM_172107.4(KCNQ2):c.1686C>G (p.Tyr562Ter)

SNV
Germline

Chr20:63413527

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1057520773

1 SubmittersRCV001059978

NM_172107.4(KCNQ2):c.1023G>C (p.Gln341His)

SNV
Germline

Chr20:63438625

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2081071680

1 SubmittersRCV001062129

NM_172107.4(KCNQ2):c.810G>T (p.Trp270Cys)

SNV
Germline

Chr20:63442412

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2081187047

1 SubmittersRCV001055610

NM_172107.4(KCNQ2):c.797A>G (p.Asp266Gly)

SNV
Germline

Chr20:63442425

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2081187692

2 SubmittersRCV001057610 RCV003128743

NM_172107.4(KCNQ2):c.667T>C (p.Ser223Pro)

SNV
Germline

Chr20:63444682

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2081358991

1 SubmittersRCV001043199

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

SNV
Germline

Chr2:166054701

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1574281711

2 SubmittersRCV001037788 RCV001089717

NM_001165963.4(SCN1A):c.575G>A (p.Trp192Ter)

SNV
Germline

Chr2:166054665

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1698943949

1 SubmittersRCV001068164

NM_001165963.4(SCN1A):c.788T>C (p.Leu263Pro)

SNV
Germline

Chr2:166051895

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1698602170

1 SubmittersRCV001049730

NM_001165963.4(SCN1A):c.879A>C (p.Glu293Asp)

SNV
Germline

Chr2:166051804

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1457806589

3 SubmittersRCV001060384 RCV002469335 RCV004031917

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

SNV
Germline

Chr2:166051797

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_373772491

2 SubmittersRCV001041409 RCV002489571

NM_001165963.4(SCN1A):c.974A>G (p.Tyr325Cys)

SNV
Germline

Chr2:166048940

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1698192456

1 SubmittersRCV001060255

NM_001165963.4(SCN1A):c.1010G>C (p.Gly337Ala)

SNV
Germline

Chr2:166048904

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1698176171

1 SubmittersRCV001062675

NM_001165963.4(SCN1A):c.1047T>G (p.Tyr349Ter)

SNV
Germline

Chr2:166047750

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
SCN1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1369404945

2 SubmittersRCV001056049 RCV004528363

NM_001165963.4(SCN1A):c.1133T>C (p.Leu378Pro)

SNV
Germline

Chr2:166047664

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1698003832

1 SubmittersRCV001065394

NM_001165963.4(SCN1A):c.1144G>A (p.Asp382Asn)

SNV
Germline

Chr2:166047653

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1698002491

1 SubmittersRCV001037567

NM_001165963.4(SCN1A):c.1154A>C (p.Glu385Ala)

SNV
Germline

Chr2:166047643

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1697999557

1 SubmittersRCV001034995

NM_001165963.4(SCN1A):c.1220T>A (p.Ile407Asn)

SNV
Germline

Chr2:166046927

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_398123581

1 SubmittersRCV001052269

NM_001165963.4(SCN1A):c.2243G>A (p.Trp748Ter)

SNV
Germline

Chr2:166041403

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1697157422

1 SubmittersRCV001051932

NM_001165963.4(SCN1A):c.2266A>T (p.Lys756Ter)

SNV
Germline

Chr2:166041380

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1426666349

1 SubmittersRCV001050864

NM_001165963.4(SCN1A):c.2363A>T (p.Glu788Val)

SNV
Germline

Chr2:166041283

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1697134047

1 SubmittersRCV001059739

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

SNV
Germline

Chr2:166039490

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_750901301

3 SubmittersRCV001055611 RCV001729785 RCV002553797

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

SNV
Germline

Chr2:166037930

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_794726718

2 SubmittersRCV001038397 RCV001328666

NM_001165963.4(SCN1A):c.2835C>G (p.Phe945Leu)

SNV
Germline

Chr2:166037887

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1696628056

2 SubmittersRCV001039756 RCV001809961

NM_001165963.4(SCN1A):c.2903G>A (p.Cys968Tyr)

SNV
Germline

Chr2:166037819

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_794726823

1 SubmittersRCV001067689

NM_001165963.4(SCN1A):c.2970G>C (p.Leu990Phe)

SNV
Germline

Chr2:166036507

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_897883046

1 SubmittersRCV001055731

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

SNV
Germline

Chr2:166036506

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1696401617

2 SubmittersRCV001809976 RCV001068032

NM_001165963.4(SCN1A):c.3762T>A (p.Tyr1254Ter)

SNV
Germline

Chr2:166012226

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Single Submitter

rs_1240187329

2 SubmittersRCV001068081 RCV001194608

NM_001165963.4(SCN1A):c.3926T>A (p.Leu1309His)

SNV
Germline

Chr2:166009795

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553529527

1 SubmittersRCV001039489

NM_001165963.4(SCN1A):c.4040T>C (p.Ile1347Thr)

SNV
Germline

Chr2:166002716

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553525325

2 SubmittersRCV001055991 RCV003326533

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

SNV
Germline

Chr2:166002708

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1574006637

3 SubmittersRCV001039629 RCV002283519

NM_001165963.4(SCN1A):c.4244T>C (p.Phe1415Ser)

SNV
Germline

Chr2:166002512

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1691039670

1 SubmittersRCV001061500

NM_001165963.4(SCN1A):c.4295A>T (p.Lys1432Ile)

SNV
Germline

Chr2:165999766

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1690583220

1 SubmittersRCV001037807

NM_001165963.4(SCN1A):c.4352C>G (p.Pro1451Arg)

SNV
Germline

Chr2:165998162

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121917945

1 SubmittersRCV001045298

NM_001165963.4(SCN1A):c.4358A>G (p.Tyr1453Cys)

SNV
Germline

Chr2:165998156

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1690345764

1 SubmittersRCV001049503

NM_001165963.4(SCN1A):c.4510C>A (p.Gln1504Lys)

SNV
Germline

Chr2:165996084

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553521530

1 SubmittersRCV001056655

NM_001165963.4(SCN1A):c.4656T>A (p.Cys1552Ter)

SNV
Germline

Chr2:165994342

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553521051

1 SubmittersRCV001058447

NM_001165963.4(SCN1A):c.4693C>T (p.Gln1565Ter)

SNV
Germline

Chr2:165994305

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1386425283

1 SubmittersRCV001037740

NM_001165963.4(SCN1A):c.4973C>A (p.Thr1658Lys)

SNV
Germline

Chr2:165992302

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121917922

1 SubmittersRCV001043566

NM_001165963.4(SCN1A):c.5006C>T (p.Ala1669Val)

SNV
Germline

Chr2:165992269

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_397514458

2 SubmittersRCV001041807 RCV004761894

NM_001165963.4(SCN1A):c.5111T>C (p.Met1704Thr)

SNV
Germline

Chr2:165992164

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1689298888

1 SubmittersRCV001054226

NM_001165963.4(SCN1A):c.5157A>C (p.Gln1719His)

SNV
Germline

Chr2:165992118

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1689285717

1 SubmittersRCV001046061

NM_001165963.4(SCN1A):c.5179G>T (p.Asp1727Tyr)

SNV
Germline

Chr2:165992096

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1689278461

1 SubmittersRCV001035628

NM_001165963.4(SCN1A):c.5182G>A (p.Gly1728Arg)

SNV
Germline

Chr2:165992093

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1238612161

1 SubmittersRCV001049341

NM_001165963.4(SCN1A):c.5312T>G (p.Ile1771Ser)

SNV
Germline

Chr2:165991963

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1253117981

1 SubmittersRCV001057675

NM_001165963.4(SCN1A):c.5443T>C (p.Phe1815Leu)

SNV
Germline

Chr2:165991832

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1689211960

1 SubmittersRCV001045336

NM_001165963.4(SCN1A):c.5444T>C (p.Phe1815Ser)

SNV
Germline

Chr2:165991831

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1689211569

1 SubmittersRCV001065356

NM_001165963.4(SCN1A):c.5756C>G (p.Ala1919Gly)

SNV
Germline

Chr2:165991519

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1689142827

1 SubmittersRCV001052555

NM_001165963.4(SCN1A):c.280A>T (p.Asn94Tyr)

SNV
Germline

Chr2:166058673

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1699367901

1 SubmittersRCV001062966

NM_001165963.4(SCN1A):c.338C>T (p.Pro113Leu)

SNV
Germline

Chr2:166058615

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553553462

1 SubmittersRCV001060729

NM_001165963.4(SCN1A):c.344A>G (p.Asn115Ser)

SNV
Germline

Chr2:166058609

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1699357096

2 SubmittersRCV001040645 RCV002290565

NM_001165963.4(SCN1A):c.417G>C (p.Leu139Phe)

SNV
Germline

Chr2:166056467

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1699149959

2 SubmittersRCV001045388 RCV003227900

NM_001165963.4(SCN1A):c.264+3G>C

SNV
Germline

Chr2:166073355

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_746440689

1 SubmittersRCV001064399

NM_001165963.4(SCN1A):c.3706-2A>T

SNV
Germline

Chr2:166012284

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1692586274

1 SubmittersRCV001054340

NM_001165963.4(SCN1A):c.1377+2T>C

SNV
Germline

Chr2:166046768

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1697876590

1 SubmittersRCV001066067

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

SNV
Germline

Chr2:166052847

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_727504142

1 SubmittersRCV001051210

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

SNV
Germline

Chr2:165996120

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1690013843

2 SubmittersRCV001044276 RCV003141963

NM_006030.4(CACNA2D2):c.1845+1G>T

SNV
Germline

Chr3:50375808

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1704944478

1 SubmittersRCV001051523

NM_001032221.6(STXBP1):c.247-1G>A

SNV
Germline

Chr9:127660029

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1840967817

1 SubmittersRCV001050020

NM_172107.4(KCNQ2):c.1217+1G>T

SNV
Germline

Chr20:63428366

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2080693649

1 SubmittersRCV001070990

NM_001330260.2(SCN8A):c.4436T>C (p.Ile1479Thr)

SNV
Germline

Chr12:51790414

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1938214529

2 SubmittersRCV001089542 RCV002555932

NM_172107.4(KCNQ2):c.1149-2A>G

SNV
Germline

Chr20:63428437

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_2080696874

2 SubmittersRCV001873445 RCV001089746

NM_172107.4(KCNQ2):c.746T>C (p.Leu249Pro)

SNV
Germline

Chr20:63442476

Pathogenic

Intellectual disability
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2081190512

2 SubmittersRCV001089863 RCV003753167

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

SNV
Germline

Chr2:166002662

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1691073965

2 SubmittersRCV001089990 RCV001862667

NM_001165963.4(SCN1A):c.4378T>C (p.Tyr1460His)

SNV
Germline

Chr2:165998136

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1573984593

2 SubmittersRCV001091661 RCV003588715

NM_001165963.4(SCN1A):c.3656G>A (p.Trp1219Ter)

SNV
Germline

Chr2:166013793

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1692870117

2 SubmittersRCV001091667 RCV003588717

NM_001165963.4(SCN1A):c.3641T>C (p.Ile1214Thr)

SNV
Germline

Chr2:166013808

Conflicting classifications of pathogenicity

Condition: not provided
Seizure
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1692873873

4 SubmittersRCV001091668 RCV002275268 RCV002554837

NM_001165963.4(SCN1A):c.2585G>T (p.Arg862Leu)

SNV
Germline

Chr2:166039427

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_121918785

3 SubmittersRCV001092113 RCV001214741 RCV002249679

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

SNV
Germline

Chr2:166041406

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_980156920

4 SubmittersRCV001092115 RCV001362140 RCV004819237

NM_006030.4(CACNA2D2):c.2234+1G>A

SNV
Germline

Chr3:50367811

Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_749539763

2 SubmittersRCV001091091 RCV001378057

NM_172107.4(KCNQ2):c.748G>T (p.Val250Leu)

SNV
Germline

Chr20:63442474

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_2081190344

2 SubmittersRCV001092634 RCV001389467

NM_172107.4(KCNQ2):c.703G>A (p.Ala235Thr)

SNV
Germline

Chr20:63442519

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2081192615

2 SubmittersRCV001303607 RCV001092635

NM_172107.4(KCNQ2):c.394G>A (p.Val132Met)

SNV
Germline

Chr20:63445358

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1600789325

5 SubmittersRCV001092638 RCV001215405 RCV001786432 RCV002290597

NM_001191061.2(SLC25A22):c.693C>T (p.Ala231=)

SNV
Germline

Chr11:792353

Conflicting classifications of pathogenicity

Early myoclonic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_530935116

2 SubmittersRCV001110091 RCV001437122

NM_001191061.2(SLC25A22):c.587+14G>A

SNV
Germline

Chr11:792539

Conflicting classifications of pathogenicity

Early myoclonic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_754046647

2 SubmittersRCV001110092 RCV002556156

NM_001165963.4(SCN1A):c.2508C>T (p.Asp836=)

SNV
Germline

Chr2:166039504

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_575554223

2 SubmittersRCV001134707 RCV001134706 RCV001413466

NM_001165963.4(SCN1A):c.3551-12C>T

SNV
Germline

Chr2:166013910

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1692905818

2 SubmittersRCV001129576 RCV001129577 RCV002070514

NM_001165963.4(SCN1A):c.384-5C>T

SNV
Germline

Chr2:166056505

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_781505393

2 SubmittersRCV001132518 RCV001132517 RCV001502562

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

SNV
Germline

Chr2:166037855

Pathogenic/Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 1
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1696619508

3 SubmittersRCV001171310 RCV001242431 RCV003992456

NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His)

SNV
Germline

Chr2:165991934

Pathogenic

Migraine, familial hemiplegic, 3
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1689242255

2 SubmittersRCV001195896 RCV001863098

NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser)

SNV
Germline

Chr2:165992287

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Migraine, familial hemiplegic, 3

Criteria Provided
Conflicting Classifications

rs_1553520425

2 SubmittersRCV003588723 RCV001196601

NM_001165963.4(SCN1A):c.1028+2T>C

SNV
Germline

Chr2:166048884

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Migraine, familial hemiplegic, 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1698170849

2 SubmittersRCV001385213 RCV001199340

NM_001330260.2(SCN8A):c.2654T>C (p.Ile885Thr)

SNV
Germline

Chr12:51765780

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1942829127

2 SubmittersRCV001200084 RCV002298900

NM_172107.4(KCNQ2):c.232C>T (p.Gln78Ter)

SNV
Germline

Chr20:63472232

Pathogenic

Seizure
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_867848081

2 SubmittersRCV001201162 RCV001863144

NM_001165963.4(SCN1A):c.4963G>A (p.Gly1655Arg)

SNV
Germline

Chr2:165992312

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1689350809

1 SubmittersRCV001215953

NM_001165963.4(SCN1A):c.4351C>G (p.Pro1451Ala)

SNV
Germline

Chr2:165998163

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_794726696

1 SubmittersRCV001219623

NM_001165963.4(SCN1A):c.3863A>C (p.Asp1288Ala)

SNV
Germline

Chr2:166012125

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1692543303

1 SubmittersRCV001222804

NM_001165963.4(SCN1A):c.3829C>T (p.Gln1277Ter)

SNV
Germline

Chr2:166012159

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553531217

1 SubmittersRCV001221444

NM_001165963.4(SCN1A):c.3611G>C (p.Trp1204Ser)

SNV
Germline

Chr2:166013838

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1559149128

1 SubmittersRCV001219016

NM_001165963.4(SCN1A):c.2893C>T (p.Gln965Ter)

SNV
Germline

Chr2:166037829

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1312664315

1 SubmittersRCV001221323

NM_001165963.4(SCN1A):c.2429T>A (p.Ile810Asn)

SNV
Germline

Chr2:166039583

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1696888691

1 SubmittersRCV001220233

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

SNV
Germline

Chr2:166043829

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1697440060

2 SubmittersRCV001218504 RCV004594251

NM_001165963.4(SCN1A):c.1549G>T (p.Glu517Ter)

SNV
Germline

Chr2:166045156

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1392398456

1 SubmittersRCV001225066

NM_001165963.4(SCN1A):c.1229G>T (p.Gly410Val)

SNV
Germline

Chr2:166046918

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1697904829

1 SubmittersRCV001225036

NM_001165963.4(SCN1A):c.1170G>A (p.Leu390=)

SNV
Germline

Chr2:166047627

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1697996396

1 SubmittersRCV001217095

NM_001165963.4(SCN1A):c.1121C>A (p.Ser374Tyr)

SNV
Germline

Chr2:166047676

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1698007004

1 SubmittersRCV001224562

NM_001165963.4(SCN1A):c.459G>A (p.Trp153Ter)

SNV
Germline

Chr2:166056425

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553552310

1 SubmittersRCV001224755

NM_021072.4(HCN1):c.2462C>T (p.Ala821Val)

SNV
Germline

Chr5:45262132

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371602396

2 SubmittersRCV001219541 RCV004597972

NM_001032221.6(STXBP1):c.214G>A (p.Glu72Lys)

SNV
Germline

Chr9:127658419

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_754668616

2 SubmittersRCV001222853 RCV001566722

NM_001032221.6(STXBP1):c.268G>C (p.Asp90His)

SNV
Germline

Chr9:127660051

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1840970680

3 SubmittersRCV001214862 RCV001726451 RCV002451469

NM_001032221.6(STXBP1):c.429G>A (p.Gln143=)

SNV
Germline

Chr9:127661205

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1841030849

2 SubmittersRCV001224719 RCV001267328

NM_001032221.6(STXBP1):c.1630G>C (p.Gly544Arg)

SNV
Germline

Chr9:127682488

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1842044505

1 SubmittersRCV001224723

NM_001032221.6(STXBP1):c.1656C>A (p.Cys552Ter)

SNV
Germline

Chr9:127682514

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

rs_942940725

2 SubmittersRCV001215125 RCV001799745

NM_001330260.2(SCN8A):c.796G>A (p.Ala266Thr)

SNV
Germline

Chr12:51699659

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1941650760

1 SubmittersRCV001215170

NM_020988.3(GNAO1):c.58G>A (p.Glu20Lys)

SNV
Germline

Chr16:56192293

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2036182701

2 SubmittersRCV001217249 RCV002562424

NM_172107.4(KCNQ2):c.1619T>G (p.Ile540Ser)

SNV
Germline

Chr20:63414100

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2080210194

1 SubmittersRCV001218484

NM_172107.4(KCNQ2):c.1452G>A (p.Trp484Ter)

SNV
Germline

Chr20:63414976

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2080239750

1 SubmittersRCV001216548

NM_172107.4(KCNQ2):c.1444A>T (p.Lys482Ter)

SNV
Germline

Chr20:63414984

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2080240053

1 SubmittersRCV001214867

NM_172107.4(KCNQ2):c.1042G>A (p.Ala348Thr)

SNV
Germline

Chr20:63433885

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

rs_2080906700

2 SubmittersRCV001221700 RCV004556835

NM_172107.4(KCNQ2):c.782T>G (p.Phe261Cys)

SNV
Germline

Chr20:63442440

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_796052631

2 SubmittersRCV001217272 RCV001263019

NM_172107.4(KCNQ2):c.767G>T (p.Gly256Val)

SNV
Germline

Chr20:63442455

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1371722284

1 SubmittersRCV001216111

NM_172107.4(KCNQ2):c.635A>C (p.Asp212Ala)

SNV
Germline

Chr20:63444714

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_118192202

1 SubmittersRCV001214774

NM_172107.4(KCNQ2):c.553G>T (p.Ala185Ser)

SNV
Germline

Chr20:63444796

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1600786349

2 SubmittersRCV002510588 RCV001224514

NM_172107.4(KCNQ2):c.302T>A (p.Leu101His)

SNV
Germline

Chr20:63446832

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2081442073

1 SubmittersRCV001214369

NM_001165963.4(SCN1A):c.5218G>C (p.Asp1740His)

SNV
Germline

Chr2:165992057

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_796053035

1 SubmittersRCV001208266

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

SNV
Germline

Chr2:165992224

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1689321394

2 SubmittersRCV001212263 RCV004699130

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

SNV
Germline

Chr2:165994223

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

rs_1689684958

2 SubmittersRCV001202705 RCV003992462

NM_001165963.4(SCN1A):c.4414T>C (p.Phe1472Leu)

SNV
Germline

Chr2:165998100

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1690331819

1 SubmittersRCV001205652

NM_001165963.4(SCN1A):c.2947G>T (p.Val983Phe)

SNV
Germline

Chr2:166036530

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553540503

1 SubmittersRCV001213249

NM_001165963.4(SCN1A):c.2869T>G (p.Trp957Gly)

SNV
Germline

Chr2:166037853

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1696618804

1 SubmittersRCV001210248

NM_001165963.4(SCN1A):c.1160T>C (p.Leu387Pro)

SNV
Germline

Chr2:166047637

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1697998959

1 SubmittersRCV001212430

NM_001165963.4(SCN1A):c.716C>G (p.Ala239Gly)

SNV
Germline

Chr2:166051967

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121917909

1 SubmittersRCV001210172

NM_021072.4(HCN1):c.2420C>G (p.Thr807Ser)

SNV
Germline

Chr5:45262174

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1244303801

3 SubmittersRCV001209767 RCV002451452 RCV002274147

NM_001032221.6(STXBP1):c.416C>A (p.Pro139Gln)

SNV
Germline

Chr9:127661192

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_796053353

1 SubmittersRCV001201587

NM_001330260.2(SCN8A):c.1439T>C (p.Ile480Thr)

SNV
Germline

Chr12:51706519

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1159903256

2 SubmittersRCV001203052 RCV001586042

NM_001330260.2(SCN8A):c.2074G>A (p.Gly692Arg)

SNV
Germline

Chr12:51745978

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1037521613

3 SubmittersRCV003142148 RCV001213284

NM_001330260.2(SCN8A):c.4393G>A (p.Asp1465Asn)

SNV
Germline

Chr12:51789392

Likely pathogenic

See cases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1938178701

2 SubmittersRCV002252328 RCV001202692

NM_001330260.2(SCN8A):c.5278A>G (p.Met1760Val)

SNV
Germline

Chr12:51806764

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1938712937

1 SubmittersRCV001203843

NM_173728.4(ARHGEF15):c.736A>G (p.Thr246Ala)

SNV
Germline

Chr17:8313056

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified

Criteria Provided
Conflicting Classifications

rs_774905343

2 SubmittersRCV001208556 RCV004033734

NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile)

SNV
Germline

Chr20:63413575

Conflicting classifications of pathogenicity

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Seizure

Criteria Provided
Conflicting Classifications

rs_2080191127

2 SubmittersRCV001838424 RCV001203132 RCV004556834

NM_172107.4(KCNQ2):c.1540G>T (p.Gly514Ter)

SNV
Germline

Chr20:63414179

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_772669887

1 SubmittersRCV001211058

NM_172107.4(KCNQ2):c.908C>G (p.Ser303Cys)

SNV
Germline

Chr20:63439617

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2081098548

1 SubmittersRCV001212432

NM_172107.4(KCNQ2):c.827C>A (p.Thr276Asn)

SNV
Germline

Chr20:63439698

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1057516095

1 SubmittersRCV001211396

NM_172107.4(KCNQ2):c.689A>T (p.Lys230Met)

SNV
Germline

Chr20:63444660

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2081358317

1 SubmittersRCV001201982

NM_172107.4(KCNQ2):c.33C>A (p.Tyr11Ter)

SNV
Germline

Chr20:63472431

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2082240394

1 SubmittersRCV001202410

NM_172107.4(KCNQ2):c.387+5G>A

SNV
Germline

Chr20:63446742

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2081437856

1 SubmittersRCV001203459

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

SNV
Germline

Chr2:166012104

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_796052999

3 SubmittersRCV001216784 RCV003339537 RCV003142161

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

SNV
Germline

Chr2:166054767

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1698962501

2 SubmittersRCV001215571 RCV003313993

NM_006030.4(CACNA2D2):c.842+1G>A

SNV
Germline

Chr3:50380747

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1705258881

1 SubmittersRCV001220876

NM_001165963.4(SCN1A):c.5330T>C (p.Val1777Ala)

SNV
Germline

Chr2:165991945

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1689245014

2 SubmittersRCV001225930 RCV003159190

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

SNV
Germline

Chr2:165991982

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

rs_1689251604

2 SubmittersRCV001237218 RCV003992474

NM_001165963.4(SCN1A):c.5129T>C (p.Phe1710Ser)

SNV
Germline

Chr2:165992146

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1689294239

1 SubmittersRCV001228636

NM_001165963.4(SCN1A):c.4294A>G (p.Lys1432Glu)

SNV
Germline

Chr2:165999767

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1553523204

2 SubmittersRCV001227407 RCV002327543

NM_001165963.4(SCN1A):c.4051C>T (p.Leu1351Phe)

SNV
Germline

Chr2:166002705

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1691082638

1 SubmittersRCV001226832

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

SNV
Germline

Chr2:166015679

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_776752552

2 SubmittersRCV001230963 RCV002504309

NM_001165963.4(SCN1A):c.3183T>A (p.Cys1061Ter)

SNV
Germline

Chr2:166036294

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553540294

1 SubmittersRCV001233481

NM_001165963.4(SCN1A):c.2928G>A (p.Met976Ile)

SNV
Germline

Chr2:166037794

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1696602585

2 SubmittersRCV001230259 RCV004590254

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

SNV
Germline

Chr2:166037926

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553541303

1 SubmittersRCV001229322

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

SNV
Germline

Chr2:166041277

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121918782

1 SubmittersRCV001235451

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

SNV
Germline

Chr2:166051844

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1698593264

3 SubmittersRCV001233783 RCV002249823 RCV002497799

NM_001165963.4(SCN1A):c.602C>T (p.Ala201Val)

SNV
Germline

Chr2:166054638

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553551312

1 SubmittersRCV001229412

NM_001165963.4(SCN1A):c.488G>A (p.Gly163Glu)

SNV
Germline

Chr2:166054752

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1698959938

1 SubmittersRCV001229925

NM_001032221.6(STXBP1):c.636T>A (p.Tyr212Ter)

SNV
Germline

Chr9:127665304

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1841238690

1 SubmittersRCV001232299

NM_001330260.2(SCN8A):c.2799G>T (p.Leu933Phe)

SNV
Germline

Chr12:51765925

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_774522197

1 SubmittersRCV001229803

NM_001330260.2(SCN8A):c.3926G>A (p.Arg1309Gln)

SNV
Germline

Chr12:51780755

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201255617

2 SubmittersRCV001227998 RCV002509637

NM_001330260.2(SCN8A):c.4880T>A (p.Ile1627Asn)

SNV
Germline

Chr12:51806366

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1938702028

2 SubmittersRCV001238629 RCV002069309

NM_172107.4(KCNQ2):c.1065C>A (p.Asp355Glu)

SNV
Germline

Chr20:63433862

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_200395340

1 SubmittersRCV001238089

NM_172107.4(KCNQ2):c.556G>A (p.Gly186Ser)

SNV
Germline

Chr20:63444793

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2081363570

2 SubmittersRCV001231184 RCV001664770

NM_172107.4(KCNQ2):c.273G>A (p.Trp91Ter)

SNV
Germline

Chr20:63472191

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2082233410

1 SubmittersRCV001225875

NM_001165963.4(SCN1A):c.2983T>C (p.Phe995Leu)

SNV
Germline

Chr2:166036494

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1696398838

1 SubmittersRCV001242378

NM_001165963.4(SCN1A):c.2627T>G (p.Leu876Ter)

SNV
Germline

Chr2:166038095

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1696673743

1 SubmittersRCV001242091

NM_001165963.4(SCN1A):c.1285C>T (p.Gln429Ter)

SNV
Germline

Chr2:166046862

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1455927233

1 SubmittersRCV001245350

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

SNV
Germline

Chr2:166054664

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553551361

1 SubmittersRCV001240448

NM_001032221.6(STXBP1):c.578G>C (p.Gly193Ala)

SNV
Germline

Chr9:127663353

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1588313568

1 SubmittersRCV001241713

NM_001032221.6(STXBP1):c.636T>G (p.Tyr212Ter)

SNV
Germline

Chr9:127665304

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1841238690

1 SubmittersRCV001245988

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

SNV
Germline

Chr2:165996012

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1689986058

3 SubmittersRCV001235040 RCV002246223 RCV002290651

NM_001165963.4(SCN1A):c.3706-1G>C

SNV
Germline

Chr2:166012283

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1692586014

1 SubmittersRCV001229030

NM_001165963.4(SCN1A):c.3430-2A>G

SNV
Germline

Chr2:166015729

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1693198997

1 SubmittersRCV001230525

NM_001165963.4(SCN1A):c.2044-1G>A

SNV
Germline

Chr2:166042425

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1697297091

1 SubmittersRCV001233124

NM_001032221.6(STXBP1):c.325+2T>A

SNV
Germline

Chr9:127660110

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1840976417

1 SubmittersRCV001227609

NM_001032221.6(STXBP1):c.1360-2A>C

SNV
Germline

Chr9:127678429

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1057522982

1 SubmittersRCV001246624

NM_172107.4(KCNQ2):c.927+2T>C

SNV
Germline

Chr20:63439596

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2081097112

1 SubmittersRCV001244579

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

SNV
Germline

Chr2:166058608

Pathogenic

Severe myoclonic epilepsy in infancy
Severe myoclonic epilepsy in infancy
Familial hemiplegic migraine
Generalized epilepsy with febrile seizures plus
Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_61741123

3 SubmittersRCV001249174 RCV002508953 RCV003753168

NM_004975.4(KCNB1):c.1463G>A (p.Trp488Ter)

SNV
Germline

Chr20:49374097

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 26

Criteria Provided
Single Submitter

rs_1984233764

2 SubmittersRCV001249558 RCV002290661

NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe)

SNV
Germline

Chr20:49374604

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 26
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1984259606

3 SubmittersRCV001249556 RCV002246234 RCV004727048

NM_001032221.6(STXBP1):c.663+1G>A

SNV
Germline

Chr9:127665332

Pathogenic

Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1841240415

3 SubmittersRCV001249710 RCV001879760 RCV004774358

NM_001165963.4(SCN1A):c.841C>T (p.Pro281Ser)

SNV
Germline

Chr2:166051842

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1553549660

2 SubmittersRCV001253537 RCV002570533

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

SNV
Germline

Chr2:166054755

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1698960532

3 SubmittersRCV001253083 RCV001879864 RCV003325310

NM_001032221.6(STXBP1):c.497A>G (p.Asn166Ser)

SNV
Germline

Chr9:127663272

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1841136116

2 SubmittersRCV001253524 RCV001879871

NM_001130438.3(SPTAN1):c.7234G>A (p.Glu2412Lys)

SNV
Germline

Chr9:128632881

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 5
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1336849921

3 SubmittersRCV001253319 RCV002375312 RCV002570531

NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu)

SNV
Germline

Chr12:51806336

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_587777721

2 SubmittersRCV001253419 RCV001879868

NM_020988.3(GNAO1):c.428G>A (p.Arg143Gln)

SNV
Germline

Chr16:56328755

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 17
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_777414554

4 SubmittersRCV001253688 RCV001879874 RCV003365295 RCV003222278

NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter)

SNV
Germline

Chr20:63433838

Pathogenic/Likely pathogenic

Seizures, benign familial neonatal, 1
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1185859533

3 SubmittersRCV001253279 RCV002430054 RCV003753169

NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met)

SNV
Germline

Chr20:63433851

Conflicting classifications of pathogenicity

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
KCNQ2-related disorder

Criteria Provided
Conflicting Classifications

rs_118192219

4 SubmittersRCV001253596 RCV001295143 RCV001587291 RCV004538537

NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg)

SNV
Germline

Chr20:63438626

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_2081071796

2 SubmittersRCV001253730 RCV002295337

NM_172107.4(KCNQ2):c.853C>T (p.Pro285Ser)

SNV
Germline

Chr20:63439672

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_2081101244

2 SubmittersRCV001252990 RCV001879862

NM_001032221.6(STXBP1):c.1360-7C>T

SNV
Germline

Chr9:127678424

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_895077278

2 SubmittersRCV001253041 RCV003588726

NM_172107.4(KCNQ2):c.297-1G>C

SNV
Germline

Chr20:63446838

Likely pathogenic

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_2081442293

2 SubmittersRCV001253336 RCV003588727

NM_172107.4(KCNQ2):c.578C>T (p.Ala193Val)

SNV
Germline

Chr20:63444771

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_796052619

2 SubmittersRCV001254894 RCV001362099

NM_006030.4(CACNA2D2):c.391G>A (p.Val131Met)

SNV
Germline

Chr3:50434327

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Cerebellar atrophy with seizures and variable developmental delay

Criteria Provided
Conflicting Classifications

rs_199936910

2 SubmittersRCV002069351 RCV004799303

NM_001040142.2(SCN2A):c.4391C>T (p.Thr1464Ile)

SNV
Germline

Chr2:165380674

Pathogenic/Likely pathogenic

Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Early infantile epileptic encephalopathy with suppression bursts

No Assertion Criteria Provided

rs_1701553334

2 SubmittersRCV001257450 RCV001847214

NM_001165963.4(SCN1A):c.1891A>G (p.Met631Val)

SNV
Germline

Chr2:166043821

Conflicting classifications of pathogenicity

Intellectual disability
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1336507340

3 SubmittersRCV001261382 RCV001760305 RCV001880017

NM_172107.4(KCNQ2):c.838T>C (p.Tyr280His)

SNV
Germline

Chr20:63439687

Pathogenic

Developmental and epileptic encephalopathy, 7
Complex neurodevelopmental disorder
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_2081102604

4 SubmittersRCV001261990 RCV003315367 RCV002541583

NM_001130438.3(SPTAN1):c.305T>G (p.Leu102Arg)

SNV
Germline

Chr9:128568839

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_150793549

2 SubmittersRCV001262226 RCV001880037

NM_001040142.2(SCN2A):c.4972C>T (p.Pro1658Ser)

SNV
Germline

Chr2:165388778

Pathogenic

Complex neurodevelopmental disorder
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1702009188

4 SubmittersRCV001265282 RCV001296431 RCV001847216

NM_001032221.6(STXBP1):c.755T>C (p.Met252Thr)

SNV
Germline

Chr9:127666257

Pathogenic

Infantile epilepsy syndrome
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1841289209

2 SubmittersRCV001265517 RCV003588732

NM_001032221.6(STXBP1):c.1438C>T (p.Pro480Ser)

SNV
Germline

Chr9:127678509

Likely pathogenic

Infantile epilepsy syndrome
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1841869298

2 SubmittersRCV001265519 RCV001377782

NM_001032221.6(STXBP1):c.1654T>C (p.Cys552Arg)

SNV
Germline

Chr9:127682512

Pathogenic

Infantile epilepsy syndrome
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1842046459

2 SubmittersRCV001265419 RCV003588731

NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter)

SNV
Germline

Chr20:10306165

Likely pathogenic

Congenital myasthenic syndrome 18
SNAP25-related early-onset developmental and epileptic encephalopathy
Early infantile epileptic encephalopathy with suppression bursts
Neurodevelopmental disorder
SNAP25-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2064355122

6 SubmittersRCV001267654 RCV001724282 RCV001706728 RCV004594262 RCV004727065 RCV004727064

NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)

SNV
Germline

Chr9:128632175

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1859859572

5 SubmittersRCV001268114 RCV001880161 RCV001780223

NM_001165963.4(SCN1A):c.2177-1G>C

SNV
Germline

Chr2:166041470

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_763400390

2 SubmittersRCV001288393 RCV003588735

NM_001165963.4(SCN1A):c.2173G>T (p.Glu725Ter)

SNV
Germline

Chr2:166042295

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553543828

2 SubmittersRCV001288392 RCV001871712

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

SNV
Germline

Chr2:165992102

Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1689280236

2 SubmittersRCV001289475 RCV003753171

NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)

SNV
Germline

Chr9:127663335

Pathogenic/Likely pathogenic

Autism spectrum disorder
Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1841141204

7 SubmittersRCV001291380 RCV002051934 RCV001863164 RCV002350505 RCV003329397

NM_006279.5(ST3GAL3):c.891+1G>T

SNV
Germline

Chr1:43920551

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2082857900

1 SubmittersRCV001296941

NM_001165963.4(SCN1A):c.3662A>G (p.Glu1221Gly)

SNV
Germline

Chr2:166013787

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1692866593

1 SubmittersRCV001300911

NM_001165963.4(SCN1A):c.1163A>G (p.Tyr388Cys)

SNV
Germline

Chr2:166047634

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1697998080

1 SubmittersRCV001300048

NM_001165963.4(SCN1A):c.655A>G (p.Arg219Gly)

SNV
Germline

Chr2:166052891

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553550574

2 SubmittersRCV001296131 RCV001311223

NM_001165963.4(SCN1A):c.264A>C (p.Lys88Asn)

SNV
Germline

Chr2:166073358

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1025532519

2 SubmittersRCV001296296 RCV001556767

NM_021072.4(HCN1):c.763C>T (p.Arg255Cys)

SNV
Germline

Chr5:45645271

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 10

Criteria Provided
Conflicting Classifications

rs_1745528455

3 SubmittersRCV001301157 RCV001565469 RCV005002002

NM_001032221.6(STXBP1):c.88G>A (p.Val30Met)

SNV
Germline

Chr9:127653715

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1840653229

1 SubmittersRCV001306800

NM_001130438.3(SPTAN1):c.656A>G (p.Gln219Arg)

SNV
Germline

Chr9:128576827

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1851359623

1 SubmittersRCV001302647

NM_001330260.2(SCN8A):c.2617G>A (p.Gly873Ser)

SNV
Germline

Chr12:51765743

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1942828530

1 SubmittersRCV001301920

NM_001330260.2(SCN8A):c.4912C>T (p.Arg1638Cys)

SNV
Germline

Chr12:51806398

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Global developmental delay
Seizure
Autosomal recessive inheritance
Complex neurodevelopmental disorder

Criteria Provided
Conflicting Classifications

rs_1938703307

5 SubmittersRCV001306078 RCV001542091 RCV001780241 RCV003992492

NM_001330260.2(SCN8A):c.4933A>G (p.Met1645Val)

SNV
Germline

Chr12:51806419

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1938703803

2 SubmittersRCV001304823 RCV002292625

NM_172107.4(KCNQ2):c.880G>T (p.Ala294Ser)

SNV
Germline

Chr20:63439645

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2081099858

1 SubmittersRCV001298905

NM_001330260.2(SCN8A):c.4983C>T (p.Val1661=)

SNV
Germline

Chr12:51806469

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1938705533

2 SubmittersRCV001310652 RCV003753173

NM_001165963.4(SCN1A):c.5489A>C (p.Gln1830Pro)

SNV
Germline

Chr2:165991786

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_566595038

2 SubmittersRCV001326643 RCV003169533

NM_001165963.4(SCN1A):c.5020G>A (p.Gly1674Ser)

SNV
Germline

Chr2:165992255

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_121918792

2 SubmittersRCV001325213 RCV003229889

NM_001165963.4(SCN1A):c.4858T>C (p.Phe1620Leu)

SNV
Germline

Chr2:165992417

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1689381070

1 SubmittersRCV001312722

NM_001165963.4(SCN1A):c.4795T>G (p.Tyr1599Asp)

SNV
Germline

Chr2:165994203

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

rs_1689679432

2 SubmittersRCV001317962 RCV003883607

NM_001165963.4(SCN1A):c.4676T>G (p.Met1559Arg)

SNV
Germline

Chr2:165994322

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1689707865

1 SubmittersRCV001327294

NM_001165963.4(SCN1A):c.3862G>A (p.Asp1288Asn)

SNV
Germline

Chr2:166012126

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553531134

1 SubmittersRCV001325214

NM_001165963.4(SCN1A):c.965-5A>G

SNV
Germline

Chr2:166048954

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1698198046

1 SubmittersRCV001323407

NM_001032221.6(STXBP1):c.1060T>G (p.Cys354Gly)

SNV
Germline

Chr9:127673211

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_886041337

1 SubmittersRCV001325664

NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys)

SNV
Germline

Chr12:51768948

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial infantile, 5
Myoclonus, familial, 2
Cognitive impairment with or without cerebellar ataxia
Developmental and epileptic encephalopathy, 13

Criteria Provided
Conflicting Classifications

rs_1942879102

2 SubmittersRCV001314955 RCV003147610 RCV003147611 RCV003147608 RCV003147609

NM_020988.3(GNAO1):c.529C>T (p.Arg177Ter)

SNV
Germline

Chr16:56334793

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2037724762

2 SubmittersRCV001324264 RCV001587346

NM_172107.4(KCNQ2):c.1720G>A (p.Gly574Ser)

SNV
Germline

Chr20:63413493

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_2080187424

2 SubmittersRCV001322379 RCV003322620

NM_001032221.6(STXBP1):c.298C>T (p.Arg100Trp)

SNV
Germline

Chr9:127660081

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_764758291

3 SubmittersRCV001871792 RCV001647179 RCV002438759

NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys)

SNV
Germline

Chr9:127663209

Pathogenic/Likely pathogenic

Spastic ataxia
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131462357

3 SubmittersRCV001647178 RCV001859245 RCV002286839

NM_006279.5(ST3GAL3):c.166+1G>A

SNV
Germline

Chr1:43792150

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 15
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_148531289

2 SubmittersRCV001329554 RCV001863204

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

SNV
Germline

Chr2:166045042

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_794726749

2 SubmittersRCV001328665 RCV003753174

NM_172107.4(KCNQ2):c.1118+18C>T

SNV
Germline

Chr20:63433791

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_2080900462

2 SubmittersRCV001330504 RCV002546395

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

SNV
Germline

Chr2:166048928

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_779184118

3 SubmittersRCV001334845 RCV002546700 RCV004789531

NM_021072.4(HCN1):c.282G>A (p.Met94Ile)

SNV
Germline

Chr5:45695812

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 24
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_748665278

3 SubmittersRCV001336534 RCV001344227 RCV004978353

NM_021072.4(HCN1):c.74C>A (p.Ala25Glu)

SNV
Germline

Chr5:45696020

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 24
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1469192494

3 SubmittersRCV001336535 RCV001360732 RCV004978354

NM_001165963.4(SCN1A):c.5224G>T (p.Asp1742Tyr)

SNV
Germline

Chr2:165992051

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_528239871

1 SubmittersRCV001342827

NM_001165963.4(SCN1A):c.4339-12C>A

SNV
Germline

Chr2:165998187

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Autosomal dominant epilepsy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_776548109

3 SubmittersRCV001344645 RCV003331125 RCV004699321

NM_021072.4(HCN1):c.1977C>T (p.Arg659=)

SNV
Germline

Chr5:45262617

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified

Criteria Provided
Conflicting Classifications

rs_1282221978

2 SubmittersRCV001351879 RCV003994279

NM_001130438.3(SPTAN1):c.1687A>G (p.Met563Val)

SNV
Germline

Chr9:128582730

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1344488286

2 SubmittersRCV001344143 RCV002547004

NM_001130438.3(SPTAN1):c.4076G>A (p.Arg1359Gln)

SNV
Germline

Chr9:128607633

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

rs_1176851202

3 SubmittersRCV001345434 RCV001587365 RCV001810034

NM_001330260.2(SCN8A):c.1100T>C (p.Met367Thr)

SNV
Germline

Chr12:51702880

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1941714399

1 SubmittersRCV001347627

NM_001330260.2(SCN8A):c.1252A>G (p.Asn418Asp)

SNV
Germline

Chr12:51705534

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1941769135

2 SubmittersRCV001352251 RCV004779093

NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys)

SNV
Germline

Chr12:51706476

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Cognitive impairment with or without cerebellar ataxia
Developmental and epileptic encephalopathy, 13
Seizures, benign familial infantile, 5
Myoclonus, familial, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_557559740

3 SubmittersRCV001342531 RCV002493756 RCV003136004

NM_001330260.2(SCN8A):c.5458C>A (p.Arg1820=)

SNV
Germline

Chr12:51806944

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_747526439

2 SubmittersRCV001345227 RCV001788463

NM_001330260.2(SCN8A):c.5638A>G (p.Lys1880Glu)

SNV
Germline

Chr12:51807124

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Myoclonus

Criteria Provided
Conflicting Classifications

rs_1555231128

2 SubmittersRCV001343699 RCV004798906

NM_139318.5(KCNH5):c.998G>A (p.Arg333His)

SNV
Germline

Chr14:62950504

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Developmental and epileptic encephalopathy, 12
Developmental and epileptic encephalopathy 112

Criteria Provided
Conflicting Classifications

rs_1383017734

5 SubmittersRCV001346092 RCV003120575 RCV003339604 RCV004762112

NM_172107.4(KCNQ2):c.2281G>T (p.Ala761Ser)

SNV
Germline

Chr20:63406982

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_587780366

3 SubmittersRCV001344853 RCV001568426 RCV004988569

NM_172107.4(KCNQ2):c.1630T>C (p.Cys544Arg)

SNV
Germline

Chr20:63414089

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_118192232

2 SubmittersRCV001339579 RCV003235551

NM_172107.4(KCNQ2):c.1025C>T (p.Ser342Leu)

SNV
Germline

Chr20:63433902

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2080907267

1 SubmittersRCV001348519

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

SNV
Germline

Chr2:165991694

Pathogenic/Likely pathogenic

Seizure
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_760906812

2 SubmittersRCV001353143 RCV001366596

NM_001165963.4(SCN1A):c.519T>G (p.Ile173Met)

SNV
Germline

Chr2:166054721

Conflicting classifications of pathogenicity

Seizure
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1283681963

3 SubmittersRCV001353144 RCV003442866 RCV003771032

NM_001165963.4(SCN1A):c.5324T>C (p.Leu1775Pro)

SNV
Germline

Chr2:165991951

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105429381

1 SubmittersRCV001366597

NM_001165963.4(SCN1A):c.5080T>G (p.Tyr1694Asp)

SNV
Germline

Chr2:165992195

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105432780

1 SubmittersRCV001366069

NM_001165963.4(SCN1A):c.3660T>G (p.Phe1220Leu)

SNV
Germline

Chr2:166013789

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105610047

1 SubmittersRCV001374298

NM_001165963.4(SCN1A):c.1199T>C (p.Met400Thr)

SNV
Germline

Chr2:166046948

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_794726725

1 SubmittersRCV001365856

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

SNV
Germline

Chr2:166047628

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_746413385

2 SubmittersRCV001365999 RCV004546642

NM_001165963.4(SCN1A):c.1149C>A (p.Phe383Leu)

SNV
Germline

Chr2:166047648

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121917939

1 SubmittersRCV001370765

NM_001165963.4(SCN1A):c.866A>T (p.Glu289Val)

SNV
Germline

Chr2:166051817

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105889320

1 SubmittersRCV001366598

NM_021072.4(HCN1):c.2581C>A (p.Pro861Thr)

SNV
Germline

Chr5:45262013

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756753787

2 SubmittersRCV001372602 RCV003334040

NM_001130438.3(SPTAN1):c.1367G>A (p.Trp456Ter)

SNV
Germline

Chr9:128580965

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2131088567

1 SubmittersRCV001361907

NM_001330260.2(SCN8A):c.727G>T (p.Ala243Ser)

SNV
Germline

Chr12:51699590

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2138735536

1 SubmittersRCV001366369

NM_001330260.2(SCN8A):c.5538C>A (p.Asp1846Glu)

SNV
Germline

Chr12:51807024

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1938721157

1 SubmittersRCV001365057

NM_020988.3(GNAO1):c.388C>T (p.Arg130Trp)

SNV
Germline

Chr16:56328715

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_539662922

2 SubmittersRCV001361312 RCV004036799

NM_172107.4(KCNQ2):c.911T>G (p.Phe304Cys)

SNV
Germline

Chr20:63439614

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1057516100

1 SubmittersRCV001369733

NM_001130438.3(SPTAN1):c.7291A>G (p.Lys2431Glu)

SNV
Germline

Chr9:128632938

Conflicting classifications of pathogenicity

Seizure
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_2132107869

2 SubmittersRCV001374377 RCV002550942

NM_001165963.4(SCN1A):c.3977C>A (p.Ala1326Asp)

SNV
Germline

Chr2:166009744

Pathogenic/Likely pathogenic

Neurodevelopmental disorder
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_2105569724

2 SubmittersRCV001374977 RCV001385510

NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp)

SNV
Germline

Chr9:128625883

Conflicting classifications of pathogenicity

Neurodevelopmental disorder
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2131953982

5 SubmittersRCV001374982 RCV001865870 RCV001780272 RCV004590360

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

SNV
Germline

Chr2:166013837

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553532671

2 SubmittersRCV001375622 RCV001390716

NM_001165963.4(SCN1A):c.1294G>C (p.Ala432Pro)

SNV
Germline

Chr2:166046853

Conflicting classifications of pathogenicity

Epilepsy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1697892980

3 SubmittersRCV001375628 RCV002466672 RCV003753178

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

SNV
Germline

Chr2:166047679

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553547448

2 SubmittersRCV001375626 RCV003753177

NM_130811.4(SNAP25):c.596C>T (p.Ala199Val)

SNV
Germline

Chr20:10306172

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 18
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_2123205311

2 SubmittersRCV001375964 RCV001706730

NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His)

SNV
Germline

Chr2:165991506

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2105423415

2 SubmittersRCV001378012 RCV002246355

NM_001165963.4(SCN1A):c.5224G>A (p.Asp1742Asn)

SNV
Germline

Chr2:165992051

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_528239871

1 SubmittersRCV001377574

NM_001165963.4(SCN1A):c.5179G>C (p.Asp1727His)

SNV
Germline

Chr2:165992096

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1689278461

1 SubmittersRCV001377447

NM_001165963.4(SCN1A):c.5036T>C (p.Leu1679Pro)

SNV
Germline

Chr2:165992239

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105433264

1 SubmittersRCV001379772

NM_001165963.4(SCN1A):c.4681G>A (p.Glu1561Lys)

SNV
Germline

Chr2:165994317

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_796053024

1 SubmittersRCV001379444

NM_001165963.4(SCN1A):c.4634T>A (p.Ile1545Lys)

SNV
Germline

Chr2:165994364

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105449347

1 SubmittersRCV001378447

NM_001165963.4(SCN1A):c.4555C>T (p.Pro1519Ser)

SNV
Germline

Chr2:165996039

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_796053021

1 SubmittersRCV001377575

NM_001165963.4(SCN1A):c.4481G>A (p.Gly1494Glu)

SNV
Germline

Chr2:165996113

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105462778

1 SubmittersRCV001377440

NM_001165963.4(SCN1A):c.3551-2A>T

SNV
Germline

Chr2:166013900

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105612020

1 SubmittersRCV001378655

NM_001165963.4(SCN1A):c.2904C>G (p.Cys968Trp)

SNV
Germline

Chr2:166037818

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_922757507

1 SubmittersRCV001379666

NM_001165963.4(SCN1A):c.2848G>A (p.Gly950Arg)

SNV
Germline

Chr2:166037874

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105806431

1 SubmittersRCV001377583

NM_001165963.4(SCN1A):c.2796G>T (p.Trp932Cys)

SNV
Germline

Chr2:166037926

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553541303

1 SubmittersRCV001378135

NM_001165963.4(SCN1A):c.2791C>G (p.Arg931Gly)

SNV
Germline

Chr2:166037931

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121918788

1 SubmittersRCV001377448

NM_001165963.4(SCN1A):c.2355G>A (p.Met785Ile)

SNV
Germline

Chr2:166041291

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105827770

1 SubmittersRCV001377649

NM_001165963.4(SCN1A):c.997G>A (p.Ala333Thr)

SNV
Germline

Chr2:166048917

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105874284

1 SubmittersRCV001377323

NM_001165963.4(SCN1A):c.695-2A>G

SNV
Germline

Chr2:166051990

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105890879

1 SubmittersRCV001377291

NM_001165963.4(SCN1A):c.172G>A (p.Gly58Arg)

SNV
Germline

Chr2:166073450

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553560785

1 SubmittersRCV001377989

NM_006030.4(CACNA2D2):c.1340-2A>G

SNV
Germline

Chr3:50378335

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2106654236

1 SubmittersRCV001378236

NM_006030.4(CACNA2D2):c.784+1G>C

SNV
Germline

Chr3:50380994

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1705277912

1 SubmittersRCV001379187

NM_001130438.3(SPTAN1):c.5194A>T (p.Ser1732Cys)

SNV
Germline

Chr9:128615677

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2131744077

1 SubmittersRCV001379812

NM_001130438.3(SPTAN1):c.5921A>G (p.Lys1974Arg)

SNV
Germline

Chr9:128624416

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1858423393

2 SubmittersRCV001379316 RCV003227034

NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys)

SNV
Germline

Chr12:51806305

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1555230905

4 SubmittersRCV001377181 RCV001581111 RCV002341819

NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro)

SNV
Germline

Chr20:10306169

Likely pathogenic

Congenital myasthenic syndrome 18
SNAP25 related neurodevelopmental disorder
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_2064355563

3 SubmittersRCV001377079 RCV001810043 RCV001706731

NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn)

SNV
Germline

Chr20:63413464

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_2145541173

2 SubmittersRCV001379978 RCV001420161

NM_172107.4(KCNQ2):c.1618A>G (p.Ile540Val)

SNV
Germline

Chr20:63414101

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145547478

1 SubmittersRCV001378502

NM_172107.4(KCNQ2):c.1024-2A>C

SNV
Germline

Chr20:63433905

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1057516104

1 SubmittersRCV001377088

NM_172107.4(KCNQ2):c.970C>T (p.His324Tyr)

SNV
Germline

Chr20:63438678

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145712459

1 SubmittersRCV001377699

NM_172107.4(KCNQ2):c.917C>A (p.Ala306Glu)

SNV
Germline

Chr20:63439608

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_864321707

1 SubmittersRCV001376950

NM_172107.4(KCNQ2):c.691-1G>A

SNV
Germline

Chr20:63442532

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145736858

1 SubmittersRCV001376998

NM_172107.4(KCNQ2):c.593G>C (p.Arg198Pro)

SNV
Germline

Chr20:63444756

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_796052621

2 SubmittersRCV001377908 RCV003130514

NM_172107.4(KCNQ2):c.514+1G>A

SNV
Germline

Chr20:63445237

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145778708

1 SubmittersRCV001378218

NM_172107.4(KCNQ2):c.388-1G>A

SNV
Germline

Chr20:63445365

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_6089914

1 SubmittersRCV001379620

NM_001165963.4(SCN1A):c.5527C>T (p.Gln1843Ter)

SNV
Germline

Chr2:165991748

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553520078

1 SubmittersRCV001384791

NM_001165963.4(SCN1A):c.5048T>C (p.Ile1683Thr)

SNV
Germline

Chr2:165992227

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105433108

1 SubmittersRCV001385323

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

SNV
Germline

Chr2:165994145

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_1573962555

3 SubmittersRCV001387751 RCV003992513 RCV004037690

NM_001165963.4(SCN1A):c.4847T>C (p.Ile1616Thr)

SNV
Germline

Chr2:165994151

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_2105447247

2 SubmittersRCV001387752 RCV002341829

NM_001165963.4(SCN1A):c.4359T>G (p.Tyr1453Ter)

SNV
Germline

Chr2:165998155

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1573984787

1 SubmittersRCV001382665

NM_001165963.4(SCN1A):c.4283T>A (p.Val1428Asp)

SNV
Germline

Chr2:166002473

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121918627

1 SubmittersRCV001381948

NM_001165963.4(SCN1A):c.4234A>T (p.Lys1412Ter)

SNV
Germline

Chr2:166002522

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553524977

1 SubmittersRCV001388663

NM_001165963.4(SCN1A):c.3869T>A (p.Leu1290Ter)

SNV
Germline

Chr2:166012119

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105591567

1 SubmittersRCV001385511

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

SNV
Germline

Chr2:166036047

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1574166948

1 SubmittersRCV001390891

NM_001165963.4(SCN1A):c.3407C>A (p.Ser1136Ter)

SNV
Germline

Chr2:166036070

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_746718015

1 SubmittersRCV001387195

NM_001165963.4(SCN1A):c.3380T>G (p.Leu1127Ter)

SNV
Germline

Chr2:166036097

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105793395

1 SubmittersRCV001386220

NM_001165963.4(SCN1A):c.2904C>A (p.Cys968Ter)

SNV
Germline

Chr2:166037818

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_922757507

1 SubmittersRCV001387942

NM_001165963.4(SCN1A):c.2862G>C (p.Glu954Asp)

SNV
Germline

Chr2:166037860

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1041924436

1 SubmittersRCV001384352

NM_001165963.4(SCN1A):c.2855G>A (p.Trp952Ter)

SNV
Germline

Chr2:166037867

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105806338

1 SubmittersRCV001382869

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

SNV
Germline

Chr2:166038104

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

rs_2105808640

2 SubmittersRCV001390158 RCV003326150

NM_001165963.4(SCN1A):c.2496G>A (p.Trp832Ter)

SNV
Germline

Chr2:166039516

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553542309

1 SubmittersRCV001380290

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

SNV
Germline

Chr2:166041402

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553543340

3 SubmittersRCV001381061 RCV001816000 RCV004596450

NM_001165963.4(SCN1A):c.2217T>G (p.Tyr739Ter)

SNV
Germline

Chr2:166041429

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105829215

1 SubmittersRCV001390993

NM_001165963.4(SCN1A):c.2044G>T (p.Gly682Ter)

SNV
Germline

Chr2:166042424

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1398374184

1 SubmittersRCV001387438

NM_001165963.4(SCN1A):c.1525C>T (p.Gln509Ter)

SNV
Germline

Chr2:166045180

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105851315

1 SubmittersRCV001389472

NM_001165963.4(SCN1A):c.1439C>A (p.Ser480Ter)

SNV
Germline

Chr2:166045266

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105852267

1 SubmittersRCV001384856

NM_001165963.4(SCN1A):c.1008T>A (p.Cys336Ter)

SNV
Germline

Chr2:166048906

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553548096

1 SubmittersRCV001386040

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

SNV
Germline

Chr2:166051871

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2105889854

2 SubmittersRCV001384530 RCV002283547

NM_001165963.4(SCN1A):c.252T>A (p.Tyr84Ter)

SNV
Germline

Chr2:166073370

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2105982029

2 SubmittersRCV001388200 RCV003311984

NM_001165963.4(SCN1A):c.243C>A (p.Asp81Glu)

SNV
Germline

Chr2:166073379

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_796053016

1 SubmittersRCV001380255

NM_021072.4(HCN1):c.1172G>T (p.Gly391Val)

SNV
Germline

Chr5:45396550

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1057519547

1 SubmittersRCV001388285

NM_001330260.2(SCN8A):c.3943G>A (p.Val1315Met)

SNV
Germline

Chr12:51786542

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 13

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555228303

2 SubmittersRCV001380063 RCV003330327

NM_172107.4(KCNQ2):c.2305G>T (p.Glu769Ter)

SNV
Germline

Chr20:63406958

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145484794

1 SubmittersRCV001386907

NM_172107.4(KCNQ2):c.1118+2T>G

SNV
Germline

Chr20:63433807

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_886042605

2 SubmittersRCV001386546 RCV001551331

NM_172107.4(KCNQ2):c.1064A>G (p.Asp355Gly)

SNV
Germline

Chr20:63433863

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2080905274

1 SubmittersRCV001387989

NM_172107.4(KCNQ2):c.792C>A (p.Tyr264Ter)

SNV
Germline

Chr20:63442430

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
KCNQ2-related disorder

Criteria Provided
Single Submitter

rs_143399744

2 SubmittersRCV001390661 RCV004728704

NM_172107.4(KCNQ2):c.734T>C (p.Leu245Pro)

SNV
Germline

Chr20:63442488

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145736248

1 SubmittersRCV001388161

NM_172107.4(KCNQ2):c.653G>A (p.Trp218Ter)

SNV
Germline

Chr20:63444696

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145774742

1 SubmittersRCV001385238

NM_172107.4(KCNQ2):c.437G>A (p.Trp146Ter)

SNV
Germline

Chr20:63445315

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145779397

1 SubmittersRCV001387280

NM_001165963.4(SCN1A):c.4524T>C (p.Tyr1508=)

SNV
Germline

Chr2:165996070

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_778620898

3 SubmittersRCV001396622 RCV002286845

NM_001165963.4(SCN1A):c.2520G>T (p.Val840=)

SNV
Germline

Chr2:166039492

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_757851017

3 SubmittersRCV001419284 RCV001773748

NM_001130438.3(SPTAN1):c.1271G>T (p.Gly424Val)

SNV
Germline

Chr9:128579686

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2131061695

2 SubmittersRCV001415873 RCV004968162

NM_020988.3(GNAO1):c.54G>A (p.Ala18=)

SNV
Germline

Chr16:56192289

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1288429932

2 SubmittersRCV001411645 RCV003313225

NM_172107.4(KCNQ2):c.1368G>A (p.Gly456=)

SNV
Germline

Chr20:63415060

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_748785128

2 SubmittersRCV001393905 RCV001751754

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

SNV
Germline

Chr2:165994397

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_2105449751

2 SubmittersRCV001420146 RCV001865907

NM_001130438.3(SPTAN1):c.3985G>C (p.Asp1329His)

SNV
Germline

Chr9:128605416

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1368132952

3 SubmittersRCV001433447 RCV001810048 RCV001751763

NM_001165963.4(SCN1A):c.5798G>A (p.Arg1933Gln)

SNV
Germline

Chr2:165991477

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified

Criteria Provided
Conflicting Classifications

rs_556893466

2 SubmittersRCV001474649 RCV003317501

NM_021072.4(HCN1):c.279C>T (p.Phe93=)

SNV
Germline

Chr5:45695815

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2112108977

2 SubmittersRCV001474728 RCV003387532

NM_014191.4(SCN8A):c.630T>C (p.Phe210=)

SNV
Germline

Chr12:51688773

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2138716083

2 SubmittersRCV001494974 RCV002462997

NM_139318.5(KCNH5):c.1499G>A (p.Gly500Asp)

SNV
Germline

Chr14:62849723

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1566681333

2 SubmittersRCV001496534 RCV004037365

NM_172107.4(KCNQ2):c.2019G>A (p.Pro673=)

SNV
Germline

Chr20:63407244

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_769646940

3 SubmittersRCV001506570 RCV003132508

NM_139318.5(KCNH5):c.1970C>G (p.Ala657Gly)

SNV
Germline

Chr14:62779777

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143775193

3 SubmittersRCV001521824 RCV002568040 RCV004715466

NM_139318.5(KCNH5):c.1960A>G (p.Thr654Ala)

SNV
Germline

Chr14:62779787

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_199774231

2 SubmittersRCV001511455 RCV002564307

NM_130811.4(SNAP25):c.118A>G (p.Lys40Glu)

SNV
Germline

Chr20:10284727

Likely pathogenic

Global developmental delay
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_2123063802

2 SubmittersRCV001526593 RCV001706735

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

SNV
Germline

Chr2:166037931

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_121918788

3 SubmittersRCV001530193 RCV002568884

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

SNV
Germline

Chr2:166051896

Pathogenic

Familial hemiplegic migraine
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

rs_2105890052

3 SubmittersRCV001533164 RCV002568220 RCV003992532

NM_001032221.6(STXBP1):c.1359+5G>A

SNV
Germline

Chr9:127676758

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_2131513670

2 SubmittersRCV001533418 RCV001873783

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

SNV
Germline

Chr2:166037876

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1696624989

3 SubmittersRCV001535825 RCV001552269 RCV003588743

NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter)

SNV
Germline

Chr9:127676676

Pathogenic

Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131513223

3 SubmittersRCV001542586 RCV003753180 RCV004785271

NM_001165963.4(SCN1A):c.4521C>A (p.Tyr1507Ter)

SNV
Germline

Chr2:165996073

Pathogenic

Condition: not provided
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_750997506

3 SubmittersRCV001548105 RCV002334593 RCV003753181

NM_001165963.4(SCN1A):c.1928G>A (p.Ser643Asn)

SNV
Germline

Chr2:166043784

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
not specified

Criteria Provided
Conflicting Classifications

rs_369178649

3 SubmittersRCV001545535 RCV002568276 RCV004801034

NM_001165963.4(SCN1A):c.1641G>T (p.Lys547Asn)

SNV
Germline

Chr2:166045064

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_550770894

2 SubmittersRCV001550380 RCV002568316

NM_001165963.4(SCN1A):c.810G>A (p.Met270Ile)

SNV
Germline

Chr2:166051873

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2105889888

2 SubmittersRCV002032590 RCV001552637

NM_001165963.4(SCN1A):c.3932C>T (p.Ala1311Val)

SNV
Germline

Chr2:166009789

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_2105570494

2 SubmittersRCV001569863 RCV001866017

NM_001032221.6(STXBP1):c.1084G>A (p.Val362Ile)

SNV
Germline

Chr9:127673235

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Developmental and epileptic encephalopathy, 4

Criteria Provided
Conflicting Classifications

rs_1046891783

4 SubmittersRCV001571614 RCV001866033 RCV002424993 RCV003136110

NM_172107.4(KCNQ2):c.799G>A (p.Ala267Thr)

SNV
Germline

Chr20:63442423

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_2145735332

3 SubmittersRCV001581385 RCV002510595 RCV001866106

NM_001330260.2(SCN8A):c.1995A>G (p.Pro665=)

SNV
Germline

Chr12:51721905

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1231370273

2 SubmittersRCV001581648 RCV003588750

NM_001165963.4(SCN1A):c.2911G>A (p.Val971Ile)

SNV
Germline

Chr2:166037811

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy 6B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_748816300

4 SubmittersRCV002571171 RCV004783976 RCV001591957 RCV003355522

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

SNV
Germline

Chr2:166009832

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1260685558

3 SubmittersRCV001588181 RCV001866210 RCV002275213

NM_001032221.6(STXBP1):c.903G>A (p.Gln301=)

SNV
Germline

Chr9:127669898

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1364462270

2 SubmittersRCV001592054 RCV003753185

NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter)

SNV
Germline

Chr9:128632145

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Neuronopathy, distal hereditary motor, autosomal dominant 11

Criteria Provided
Conflicting Classifications

rs_1859856446

4 SubmittersRCV001682694 RCV001882767 RCV002539682 RCV003333170

NM_130811.4(SNAP25):c.127G>C (p.Gly43Arg)

SNV
Germline

Chr20:10284736

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_2123063830

2 SubmittersRCV001706873 RCV004968238

NM_130811.4(SNAP25):c.149T>C (p.Leu50Ser)

SNV
Germline

Chr20:10284758

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2123063984

1 SubmittersRCV001706874

NM_130811.4(SNAP25):c.170T>G (p.Leu57Arg)

SNV
Germline

Chr20:10293167

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2123120184

1 SubmittersRCV001706875

NM_130811.4(SNAP25):c.197A>C (p.Gln66Pro)

SNV
Germline

Chr20:10293194

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_2064035939

2 SubmittersRCV001706876

NM_130811.4(SNAP25):c.212T>C (p.Met71Thr)

SNV
Germline

Chr20:10293209

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2123120544

1 SubmittersRCV001706878

NM_130811.4(SNAP25):c.496G>T (p.Asp166Tyr)

SNV
Germline

Chr20:10299356

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2123159234

1 SubmittersRCV001706879

NM_130811.4(SNAP25):c.497A>G (p.Asp166Gly)

SNV
Germline

Chr20:10299357

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2123159261

1 SubmittersRCV001706880

NM_130811.4(SNAP25):c.521A>C (p.Gln174Pro)

SNV
Germline

Chr20:10299381

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2123159524

1 SubmittersRCV001706881

NM_130811.4(SNAP25):c.575T>C (p.Ile192Thr)

SNV
Germline

Chr20:10306151

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2123205099

1 SubmittersRCV001706882

NM_130811.4(SNAP25):c.596C>G (p.Ala199Gly)

SNV
Germline

Chr20:10306172

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Intellectual disability, severe

Criteria Provided
Multiple Submitters
No Conflicts

rs_2123205311

2 SubmittersRCV001706883 RCV003223425

NM_130811.4(SNAP25):c.72+1G>A

SNV
Germline

Chr20:10275564

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2123003858

1 SubmittersRCV001706884

NM_130811.4(SNAP25):c.114+2T>G

SNV
Germline

Chr20:10277728

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2123019421

1 SubmittersRCV001706885

NM_130811.4(SNAP25):c.520C>T (p.Gln174Ter)

SNV
Germline

Chr20:10299380

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2123159470

1 SubmittersRCV001706886

NM_130811.4(SNAP25):c.601A>T (p.Lys201Ter)

SNV
Germline

Chr20:10306177

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Seizure
Optic atrophy
Global developmental delay
Stereotypic movement disorder
Microcephaly

Criteria Provided
Conflicting Classifications

rs_2123205373

2 SubmittersRCV001706891 RCV002468640

NM_001330260.2(SCN8A):c.4391T>C (p.Ile1464Thr)

SNV
Germline

Chr12:51789390

Likely pathogenic

Cognitive impairment with or without cerebellar ataxia
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2138909658

3 SubmittersRCV001706935 RCV001868400 RCV002276865

NM_001165963.4(SCN1A):c.3721T>C (p.Tyr1241His)

SNV
Germline

Chr2:166012267

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_922514173

2 SubmittersRCV001762972 RCV002538758

NM_021072.4(HCN1):c.643A>G (p.Met215Val)

SNV
Germline

Chr5:45645391

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_975527828

3 SubmittersRCV001768516 RCV002361019 RCV002540246

NM_001165963.4(SCN1A):c.1652C>T (p.Ser551Phe)

SNV
Germline

Chr2:166045053

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1396476288

2 SubmittersRCV001768539 RCV003753191

NM_001130438.3(SPTAN1):c.6886G>A (p.Ala2296Thr)

SNV
Germline

Chr9:128632250

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_2132089475

2 SubmittersRCV001767824 RCV002544088

NM_001330260.2(SCN8A):c.3995T>C (p.Leu1332Pro)

SNV
Germline

Chr12:51786594

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_2138904112

2 SubmittersRCV001775228 RCV001885125

NM_001205293.3(CACNA1E):c.1042G>C (p.Gly348Arg)

SNV
Germline

Chr1:181651428

Likely pathogenic

Developmental and epileptic encephalopathy, 69
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2102063243

2 SubmittersRCV001775313 RCV001849566

NM_001165963.4(SCN1A):c.2590C>A (p.Leu864Met)

SNV
Germline

Chr2:166038132

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy 6B
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140035595

3 SubmittersRCV001775487 RCV001861132 RCV002280189

NM_001330260.2(SCN8A):c.1876T>C (p.Ser626Pro)

SNV
Germline

Chr12:51721786

Conflicting classifications of pathogenicity

Condition: not provided
not specified
SCN8A-related disorder
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_753009673

4 SubmittersRCV001777092 RCV003401709 RCV004734268 RCV001868820

NM_001165963.4(SCN1A):c.807C>A (p.Phe269Leu)

SNV
Germline

Chr2:166051876

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_2105889917

2 SubmittersRCV001779369 RCV002034533

NM_001165963.4(SCN1A):c.875T>C (p.Ile292Thr)

SNV
Germline

Chr2:166051808

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_766503699

2 SubmittersRCV001779841 RCV003588765

NM_172107.4(KCNQ2):c.753C>G (p.Tyr251Ter)

SNV
Germline

Chr20:63442469

Pathogenic/Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_2145735982

3 SubmittersRCV001782328 RCV001885185

NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp)

SNV
Germline

Chr9:128615809

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 5
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1232614751

2 SubmittersRCV001785329 RCV003588766

NM_172107.4(KCNQ2):c.1763+4A>G

SNV
Germline

Chr20:63413446

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_2145541064

2 SubmittersRCV001786543 RCV002544297

NM_172107.4(KCNQ2):c.385C>G (p.Leu129Val)

SNV
Germline

Chr20:63446749

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1381622639

2 SubmittersRCV001786545 RCV001885202

NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe)

SNV
Germline

Chr20:63444681

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 1
Seizure
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_2145774638

3 SubmittersRCV001786548 RCV002275233 RCV002544298

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

SNV
Germline

Chr2:165994418

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105449932

2 SubmittersRCV001794532 RCV003588768

NM_001165963.4(SCN1A):c.802C>T (p.Leu268=)

SNV
Germline

Chr2:166051881

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_2105889931

2 SubmittersRCV001816273 RCV003753205

NM_020988.3(GNAO1):c.232A>C (p.Ile78Leu)

SNV
Germline

Chr16:56276001

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1263683170

2 SubmittersRCV001823341 RCV001869809

NM_001040142.2(SCN2A):c.1261T>G (p.Leu421Val)

SNV
Germline

Chr2:165313986

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
West syndrome

No Assertion Criteria Provided

rs_2105255913

1 SubmittersRCV001847342

NM_001040142.2(SCN2A):c.4454G>A (p.Gly1485Asp)

SNV
Germline

Chr2:165381100

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
See cases

Criteria Provided
Single Submitter

rs_1701579057

2 SubmittersRCV001847344 RCV004797956

NM_001040142.2(SCN2A):c.4498G>A (p.Ala1500Thr)

SNV
Germline

Chr2:165381144

Pathogenic

West syndrome
Early infantile epileptic encephalopathy with suppression bursts
West syndrome

No Assertion Criteria Provided

rs_2105385811

1 SubmittersRCV001847346 RCV001847347

NM_001040142.2(SCN2A):c.4933G>A (p.Gly1645Arg)

SNV
Germline

Chr2:165388739

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

No Assertion Criteria Provided

rs_2105402260

1 SubmittersRCV001847349

NM_001040142.2(SCN2A):c.4399C>G (p.Leu1467Val)

SNV
Germline

Chr2:165380682

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

No Assertion Criteria Provided

rs_2105384694

1 SubmittersRCV001847350

NM_001040142.2(SCN2A):c.4015A>G (p.Asn1339Asp)

SNV
Germline

Chr2:165374727

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
West syndrome
Complex neurodevelopmental disorder

No Assertion Criteria Provided

rs_2105373027

2 SubmittersRCV001847352 RCV002319727

NM_001040142.2(SCN2A):c.5558A>G (p.His1853Arg)

SNV
Germline

Chr2:165389364

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
West syndrome
Early infantile epileptic encephalopathy with suppression bursts

No Assertion Criteria Provided

rs_2105403389

1 SubmittersRCV001847354 RCV001847353

NM_001040142.2(SCN2A):c.4712T>C (p.Ile1571Thr)

SNV
Germline

Chr2:165386906

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
West syndrome
Complex neurodevelopmental disorder
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11

Criteria Provided
Single Submitter

rs_2105398463

3 SubmittersRCV001847356 RCV002319728 RCV002545228

NM_001040142.2(SCN2A):c.4523A>T (p.Lys1508Ile)

SNV
Germline

Chr2:165381169

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
West syndrome

No Assertion Criteria Provided

rs_2105385886

1 SubmittersRCV001847357

NM_001040142.2(SCN2A):c.4948C>A (p.Leu1650Ile)

SNV
Germline

Chr2:165388754

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
West syndrome

No Assertion Criteria Provided

rs_1702008323

1 SubmittersRCV001847359

NM_001040142.2(SCN2A):c.5237G>A (p.Cys1746Tyr)

SNV
Germline

Chr2:165389043

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

No Assertion Criteria Provided

rs_2105402821

1 SubmittersRCV001847360

NM_001040142.2(SCN2A):c.3936G>T (p.Arg1312Ser)

SNV
Germline

Chr2:165373311

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

No Assertion Criteria Provided

rs_1317894002

1 SubmittersRCV001847362

NM_001040142.2(SCN2A):c.1253A>T (p.Asn418Ile)

SNV
Germline

Chr2:165313978

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

No Assertion Criteria Provided

rs_1553568970

1 SubmittersRCV001847364

NM_001040142.2(SCN2A):c.4969C>T (p.Leu1657Phe)

SNV
Germline

Chr2:165388775

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

No Assertion Criteria Provided

rs_2105402331

1 SubmittersRCV001847367

NM_001040142.2(SCN2A):c.1288G>A (p.Glu430Lys)

SNV
Germline

Chr2:165314013

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
West syndrome

No Assertion Criteria Provided

rs_1553568990

1 SubmittersRCV001847368

NM_001040142.2(SCN2A):c.707C>G (p.Thr236Ser)

SNV
Germline

Chr2:165310332

Pathogenic

Complex neurodevelopmental disorder
Early infantile epileptic encephalopathy with suppression bursts
West syndrome

No Assertion Criteria Provided

rs_2105247122

2 SubmittersRCV002319729 RCV001847369

NM_021072.4(HCN1):c.1138A>T (p.Ile380Phe)

SNV
Germline

Chr5:45396584

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 10

Criteria Provided
Single Submitter

rs_2112040738

2 SubmittersRCV003753212 RCV001843432

NM_172107.4(KCNQ2):c.388-2A>G

SNV
Germline

Chr20:63445366

Likely pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145779858

2 SubmittersRCV001843826 RCV002543284

NM_001205293.3(CACNA1E):c.2098G>A (p.Ala700Thr)

SNV
Germline

Chr1:181724493

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Single Submitter

rs_2102499747

2 SubmittersRCV001849626 RCV003223729

NM_001205293.3(CACNA1E):c.4264A>T (p.Ile1422Phe)

SNV
Germline

Chr1:181757061

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Single Submitter

rs_2102689621

2 SubmittersRCV001849628 RCV002543429

NM_001205293.3(CACNA1E):c.4274C>A (p.Thr1425Asn)

SNV
Germline

Chr1:181757071

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Single Submitter

rs_2102689660

2 SubmittersRCV001849629 RCV002543430

NM_001165963.4(SCN1A):c.3976G>A (p.Ala1326Thr)

SNV
Germline

Chr2:166009745

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121918803

1 SubmittersRCV002028671

NM_001165963.4(SCN1A):c.3688C>T (p.Leu1230Phe)

SNV
Germline

Chr2:166013761

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105609699

1 SubmittersRCV001977880

NM_006030.4(CACNA2D2):c.466-1G>C

SNV
Germline

Chr3:50387613

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2106702374

1 SubmittersRCV001995497

NM_001165963.4(SCN1A):c.3550+16C>T

SNV
Germline

Chr2:166015591

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1000651886

2 SubmittersRCV001997816 RCV002224125

NM_001330260.2(SCN8A):c.3942+1G>T

SNV
Germline

Chr12:51780772

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2138892902

1 SubmittersRCV001988883

NM_001330260.2(SCN8A):c.986A>G (p.Asp329Gly)

SNV
Germline

Chr12:51701201

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial infantile, 5

Criteria Provided
Conflicting Classifications

rs_1592389210

2 SubmittersRCV002024195 RCV003325436

NM_001165963.4(SCN1A):c.1052G>C (p.Cys351Ser)

SNV
Germline

Chr2:166047745

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105867993

1 SubmittersRCV002034121

NM_001330260.2(SCN8A):c.1226T>C (p.Val409Ala)

SNV
Germline

Chr12:51705508

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Cognitive impairment with or without cerebellar ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2138748239

2 SubmittersRCV001924977 RCV002246576

NM_006030.4(CACNA2D2):c.2402-2A>C

SNV
Germline

Chr3:50367111

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1378156947

1 SubmittersRCV001966169

NM_172107.4(KCNQ2):c.834T>G (p.Ile278Met)

SNV
Germline

Chr20:63439691

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1272165811

1 SubmittersRCV001966226

NM_001165963.4(SCN1A):c.5399T>G (p.Leu1800Arg)

SNV
Germline

Chr2:165991876

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105428344

1 SubmittersRCV002046328

NM_172107.4(KCNQ2):c.690+1G>A

SNV
Germline

Chr20:63444658

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145774426

1 SubmittersRCV001990517

NM_006030.4(CACNA2D2):c.843G>A (p.Trp281Ter)

SNV
Germline

Chr3:50380018

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553730120

1 SubmittersRCV001974828

NM_001165963.4(SCN1A):c.4112G>T (p.Gly1371Val)

SNV
Germline

Chr2:166002644

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_865867764

1 SubmittersRCV001963710

NM_001165963.4(SCN1A):c.3874G>C (p.Val1292Leu)

SNV
Germline

Chr2:166012114

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105591537

1 SubmittersRCV001864245

NM_020988.3(GNAO1):c.1045C>T (p.Arg349Trp)

SNV
Germline

Chr16:56355033

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2143705059

2 SubmittersRCV001904169 RCV003229063

NM_001165963.4(SCN1A):c.4083C>A (p.Phe1361Leu)

SNV
Germline

Chr2:166002673

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105509873

1 SubmittersRCV001904183

NM_001032221.6(STXBP1):c.1359+3A>C

SNV
Germline

Chr9:127676756

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2131513660

1 SubmittersRCV001928226

NM_001165963.4(SCN1A):c.4921G>A (p.Ala1641Thr)

SNV
Germline

Chr2:165992354

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105434822

1 SubmittersRCV001999845

NM_172107.4(KCNQ2):c.592C>T (p.Arg198Trp)

SNV
Germline

Chr20:63444757

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2145775614

2 SubmittersRCV001991021 RCV004794569

NM_172107.4(KCNQ2):c.817-1G>A

SNV
Germline

Chr20:63439709

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145719805

1 SubmittersRCV001985805

NM_172107.4(KCNQ2):c.419A>C (p.Glu140Ala)

SNV
Germline

Chr20:63445333

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145779552

1 SubmittersRCV002040728

NM_006279.5(ST3GAL3):c.529C>T (p.Arg177Ter)

SNV
Germline

Chr1:43899235

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2077858180

1 SubmittersRCV001899695

NM_001330260.2(SCN8A):c.632T>G (p.Val211Gly)

SNV
Germline

Chr12:51689022

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial infantile, 5
Developmental and epileptic encephalopathy, 13
Myoclonus, familial, 2

Criteria Provided
Single Submitter

rs_1592380834

2 SubmittersRCV001922799 RCV003987932

NM_001165963.4(SCN1A):c.1164T>A (p.Tyr388Ter)

SNV
Germline

Chr2:166047633

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105866649

1 SubmittersRCV001917732

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

SNV
Germline

Chr2:165999739

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2105486615

2 SubmittersRCV001939397 RCV004796692

NM_001165963.4(SCN1A):c.2619G>T (p.Trp873Cys)

SNV
Germline

Chr2:166038103

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553541517

1 SubmittersRCV001941714

NM_172107.4(KCNQ2):c.1631+2T>C

SNV
Germline

Chr20:63414086

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145547234

1 SubmittersRCV001939444

NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser)

SNV
Germline

Chr20:63442411

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_1064797284

2 SubmittersRCV002028070 RCV002272564

NM_001130438.3(SPTAN1):c.6956C>A (p.Ala2319Asp)

SNV
Germline

Chr9:128632320

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2132090668

1 SubmittersRCV001930448

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

SNV
Germline

Chr2:166045248

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_777120925

2 SubmittersRCV001864733 RCV002503405

NM_001165963.4(SCN1A):c.3403G>T (p.Glu1135Ter)

SNV
Germline

Chr2:166036074

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105793066

1 SubmittersRCV001864760

NM_172107.4(KCNQ2):c.1052T>G (p.Leu351Arg)

SNV
Germline

Chr20:63433875

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145680143

1 SubmittersRCV001964146

NM_001165963.4(SCN1A):c.3241G>T (p.Gly1081Ter)

SNV
Germline

Chr2:166036236

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1248613652

1 SubmittersRCV001932225

NM_001165963.4(SCN1A):c.942G>A (p.Trp314Ter)

SNV
Germline

Chr2:166051741

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553549471

1 SubmittersRCV001938542

NM_001032221.6(STXBP1):c.225T>G (p.Tyr75Ter)

SNV
Germline

Chr9:127658430

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2132461012

1 SubmittersRCV001875757

NM_139318.5(KCNH5):c.2215C>T (p.Arg739Cys)

SNV
Germline

Chr14:62708260

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_372185345

2 SubmittersRCV001973175 RCV002571276

NM_001165963.4(SCN1A):c.4108G>C (p.Ala1370Pro)

SNV
Germline

Chr2:166002648

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105509598

1 SubmittersRCV001996260

NM_020988.3(GNAO1):c.155A>G (p.Gln52Arg)

SNV
Germline

Chr16:56192610

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2143272260

2 SubmittersRCV001889307 RCV002300618

NM_001330260.2(SCN8A):c.4583T>A (p.Ile1528Asn)

SNV
Germline

Chr12:51794429

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2138919119

1 SubmittersRCV002041381

NM_001165963.4(SCN1A):c.5195C>T (p.Pro1732Leu)

SNV
Germline

Chr2:165992080

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105431242

1 SubmittersRCV001950833

NM_001165963.4(SCN1A):c.5052C>A (p.Tyr1684Ter)

SNV
Germline

Chr2:165992223

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1433806086

1 SubmittersRCV001950835

NM_001165963.4(SCN1A):c.4476+5G>A

SNV
Germline

Chr2:165998033

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553522266

1 SubmittersRCV001950840

NM_001165963.4(SCN1A):c.4247A>G (p.Asp1416Gly)

SNV
Germline

Chr2:166002509

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105507958

1 SubmittersRCV001946710

NM_001165963.4(SCN1A):c.935T>C (p.Phe312Ser)

SNV
Germline

Chr2:166051748

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_886044441

1 SubmittersRCV001946717

NM_001165963.4(SCN1A):c.2176+1G>T

SNV
Germline

Chr2:166042291

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105834651

1 SubmittersRCV001907467

NM_172107.4(KCNQ2):c.1067T>A (p.Leu356Gln)

SNV
Germline

Chr20:63433860

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1057518772

1 SubmittersRCV001886814

NM_001165963.4(SCN1A):c.4256G>T (p.Gly1419Val)

SNV
Germline

Chr2:166002500

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_373547836

1 SubmittersRCV001992444

NM_001165963.4(SCN1A):c.2928G>C (p.Met976Ile)

SNV
Germline

Chr2:166037794

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1696602585

1 SubmittersRCV001956011

NM_001330260.2(SCN8A):c.3967G>T (p.Ala1323Ser)

SNV
Germline

Chr12:51786566

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 13

Criteria Provided
Multiple Submitters
No Conflicts

rs_794727361

2 SubmittersRCV001975799 RCV003136389

NM_001165963.4(SCN1A):c.4972A>T (p.Thr1658Ser)

SNV
Germline

Chr2:165992303

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1064794766

1 SubmittersRCV001971003

NM_001165963.4(SCN1A):c.1181C>T (p.Ala394Val)

SNV
Germline

Chr2:166046966

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2105862847

2 SubmittersRCV001971010 RCV003312031

NM_001165963.4(SCN1A):c.3783C>A (p.Tyr1261Ter)

SNV
Germline

Chr2:166012205

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1043031572

2 SubmittersRCV001958376 RCV003156365

NM_001165963.4(SCN1A):c.3139G>T (p.Glu1047Ter)

SNV
Germline

Chr2:166036338

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_776984527

1 SubmittersRCV001985320

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

SNV
Germline

Chr2:166036353

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553540342

2 SubmittersRCV001985326 RCV003228035

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

SNV
Germline

Chr2:166056410

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_794726840

2 SubmittersRCV001958438 RCV002246609

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

SNV
Germline

Chr2:166073546

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_76921794

1 SubmittersRCV001958443

NM_021072.4(HCN1):c.1159G>T (p.Ala387Ser)

SNV
Germline

Chr5:45396563

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2112040690

2 SubmittersRCV001949242 RCV002370611

NM_001032221.6(STXBP1):c.37+1G>A

SNV
Germline

Chr9:127612441

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2132275717

2 SubmittersRCV001953769 RCV003225210

NM_001032221.6(STXBP1):c.175G>A (p.Glu59Lys)

SNV
Germline

Chr9:127658380

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2132460743

2 SubmittersRCV001953770 RCV003227051

NM_001165963.4(SCN1A):c.4926G>C (p.Arg1642Ser)

SNV
Germline

Chr2:165992349

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1131691581

1 SubmittersRCV001949274

NM_001165963.4(SCN1A):c.305T>C (p.Phe102Ser)

SNV
Germline

Chr2:166058648

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105918357

1 SubmittersRCV001972685

NM_001165963.4(SCN1A):c.3884C>G (p.Ser1295Ter)

SNV
Germline

Chr2:166009837

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105571577

1 SubmittersRCV001953864

NM_001165963.4(SCN1A):c.2863A>T (p.Thr955Ser)

SNV
Germline

Chr2:166037859

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105806212

1 SubmittersRCV002008496

NM_001165963.4(SCN1A):c.940T>C (p.Trp314Arg)

SNV
Germline

Chr2:166051743

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105888708

1 SubmittersRCV002030379

NM_001330260.2(SCN8A):c.3562C>T (p.Arg1188Trp)

SNV
Germline

Chr12:51770600

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1430513260

1 SubmittersRCV001889841

NM_001165963.4(SCN1A):c.3803T>G (p.Leu1268Arg)

SNV
Germline

Chr2:166012185

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105592653

1 SubmittersRCV001891058

NM_001165963.4(SCN1A):c.5138G>T (p.Ser1713Ile)

SNV
Germline

Chr2:165992137

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121918816

1 SubmittersRCV001910777

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

SNV
Germline

Chr2:166051872

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2105889878

2 SubmittersRCV001951947 RCV002479417

NM_001130438.3(SPTAN1):c.2548A>G (p.Met850Val)

SNV
Germline

Chr9:128584831

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_371776794

2 SubmittersRCV001976023 RCV002441129

NM_001165963.4(SCN1A):c.5017A>G (p.Ile1673Val)

SNV
Germline

Chr2:165992258

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_375651364

1 SubmittersRCV002017469

NM_001165963.4(SCN1A):c.3241G>A (p.Gly1081Arg)

SNV
Germline

Chr2:166036236

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1248613652

1 SubmittersRCV001884512

NM_001165963.4(SCN1A):c.3614G>A (p.Trp1205Ter)

SNV
Germline

Chr2:166013835

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105610895

1 SubmittersRCV001943697

NM_020988.3(GNAO1):c.464+2T>C

SNV
Germline

Chr16:56328793

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2143647375

1 SubmittersRCV001976534

NM_001165963.4(SCN1A):c.2684T>C (p.Leu895Pro)

SNV
Germline

Chr2:166038038

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105807979

1 SubmittersRCV001947375

NM_172107.4(KCNQ2):c.387+2T>C

SNV
Germline

Chr20:63446745

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145789008

1 SubmittersRCV002017134

NM_001165963.4(SCN1A):c.1184C>T (p.Ala395Val)

SNV
Germline

Chr2:166046963

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_759121197

1 SubmittersRCV001961854

NM_001165963.4(SCN1A):c.1018T>C (p.Ser340Pro)

SNV
Germline

Chr2:166048896

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105874088

1 SubmittersRCV001896567

NM_001032221.6(STXBP1):c.1627G>C (p.Gly543Arg)

SNV
Germline

Chr9:127682485

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2131535795

1 SubmittersRCV001973846

NM_001165963.4(SCN1A):c.3676T>G (p.Phe1226Val)

SNV
Germline

Chr2:166013773

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2105609833

2 SubmittersRCV001973907 RCV003136396

NM_001165963.4(SCN1A):c.3712G>T (p.Glu1238Ter)

SNV
Germline

Chr2:166012276

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_750364705

1 SubmittersRCV001975135

NM_020988.3(GNAO1):c.596T>C (p.Leu199Pro)

SNV
Germline

Chr16:56336733

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2143664797

1 SubmittersRCV001949659

NM_001165963.4(SCN1A):c.1982C>T (p.Thr661Ile)

SNV
Germline

Chr2:166043730

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy 6B

Criteria Provided
Conflicting Classifications

rs_780340848

2 SubmittersRCV002003817 RCV003126073

NM_001130438.3(SPTAN1):c.6338A>T (p.Glu2113Val)

SNV
Germline

Chr9:128626449

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2131965427

1 SubmittersRCV002030742

NM_001165963.4(SCN1A):c.4055T>A (p.Leu1352Gln)

SNV
Germline

Chr2:166002701

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

rs_794726821

2 SubmittersRCV002003918 RCV002246642

NM_006030.4(CACNA2D2):c.2482C>T (p.Arg828Cys)

SNV
Germline

Chr3:50367029

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Cerebellar atrophy with seizures and variable developmental delay

Criteria Provided
Conflicting Classifications

rs_774552132

2 SubmittersRCV002006075 RCV004729014

NM_006030.4(CACNA2D2):c.1774-2A>G

SNV
Germline

Chr3:50375882

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2106640384

1 SubmittersRCV002033451

NM_001130438.3(SPTAN1):c.6155A>G (p.Lys2052Arg)

SNV
Germline

Chr9:128625854

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Neuronopathy, distal hereditary motor, autosomal dominant 11
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
Developmental delay with or without epilepsy
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

rs_2131953509

2 SubmittersRCV001913931 RCV004731200

NM_001165963.4(SCN1A):c.2516T>C (p.Ile839Thr)

SNV
Germline

Chr2:166039496

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

rs_2105817051

2 SubmittersRCV001971204 RCV003147718

NM_001165963.4(SCN1A):c.2856G>C (p.Trp952Cys)

SNV
Germline

Chr2:166037866

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553541193

1 SubmittersRCV002020101

NM_001165963.4(SCN1A):c.300C>G (p.Phe100Leu)

SNV
Germline

Chr2:166058653

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105918428

1 SubmittersRCV001903205

NM_001165963.4(SCN1A):c.2440G>T (p.Glu814Ter)

SNV
Germline

Chr2:166039572

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553542378

1 SubmittersRCV001884894

NM_001165963.4(SCN1A):c.4073G>T (p.Trp1358Leu)

SNV
Germline

Chr2:166002683

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121917961

1 SubmittersRCV001927510

NM_001330260.2(SCN8A):c.3250A>G (p.Met1084Val)

SNV
Germline

Chr12:51769213

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2138868851

1 SubmittersRCV002029043

NM_001032221.6(STXBP1):c.299G>A (p.Arg100Gln)

SNV
Germline

Chr9:127660082

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_374269726

3 SubmittersRCV001903126 RCV004815739 RCV004970437

NM_006279.5(ST3GAL3):c.530G>A (p.Arg177Gln)

SNV
Germline

Chr1:43899236

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 15
Intellectual disability, autosomal recessive 12

Criteria Provided
Conflicting Classifications

rs_780826701

2 SubmittersRCV001915898 RCV004728925

NM_139318.5(KCNH5):c.979C>T (p.Arg327Cys)

SNV
Germline

Chr14:62950523

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1164997707

1 SubmittersRCV001977026

NM_001165963.4(SCN1A):c.337C>T (p.Pro113Ser)

SNV
Germline

Chr2:166058616

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_794726711

1 SubmittersRCV002001338

NM_001032221.6(STXBP1):c.325+4A>T

SNV
Germline

Chr9:127660112

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2131451091

1 SubmittersRCV001972177

NM_001165963.4(SCN1A):c.5492T>A (p.Phe1831Tyr)

SNV
Germline

Chr2:165991783

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

rs_121918748

2 SubmittersRCV001977666 RCV002246633

NM_001165963.4(SCN1A):c.5029C>T (p.Leu1677Phe)

SNV
Germline

Chr2:165992246

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105433326

1 SubmittersRCV002008007

NM_001165963.4(SCN1A):c.2856G>A (p.Trp952Ter)

SNV
Germline

Chr2:166037866

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553541193

1 SubmittersRCV002035338

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

SNV
Germline

Chr2:166046972

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2105862926

2 SubmittersRCV001990893 RCV004796697

NM_006030.4(CACNA2D2):c.2281C>T (p.Arg761Ter)

SNV
Germline

Chr3:50367658

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553726252

1 SubmittersRCV001915168

NM_006030.4(CACNA2D2):c.3223C>T (p.Gln1075Ter)

SNV
Germline

Chr3:50364956

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2109395463

1 SubmittersRCV002000151

NM_020988.3(GNAO1):c.602A>T (p.Asp201Val)

SNV
Germline

Chr16:56336739

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2143664808

1 SubmittersRCV001994745

NM_020988.3(GNAO1):c.617G>T (p.Arg206Leu)

SNV
Germline

Chr16:56336754

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1297225571

1 SubmittersRCV002002430

NM_001165963.4(SCN1A):c.5479A>T (p.Lys1827Ter)

SNV
Germline

Chr2:165991796

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553520105

2 SubmittersRCV001994828 RCV002344116

NM_021072.4(HCN1):c.1159G>C (p.Ala387Pro)

SNV
Germline

Chr5:45396563

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2112040690

1 SubmittersRCV002000335

NM_001165963.4(SCN1A):c.477C>A (p.Tyr159Ter)

SNV
Germline

Chr2:166054763

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_748508725

1 SubmittersRCV001993189

NM_001165963.4(SCN1A):c.4543G>C (p.Gly1515Arg)

SNV
Germline

Chr2:165996051

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_796053020

1 SubmittersRCV001999963

NM_172107.4(KCNQ2):c.1480C>T (p.Gln494Ter)

SNV
Germline

Chr20:63414948

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145555670

1 SubmittersRCV002037748

NM_001165963.4(SCN1A):c.409A>C (p.Thr137Pro)

SNV
Germline

Chr2:166056475

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105909854

1 SubmittersRCV001994692

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

SNV
Germline

Chr2:166047626

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_794726765

1 SubmittersRCV002000125

NM_001165963.4(SCN1A):c.4860T>A (p.Phe1620Leu)

SNV
Germline

Chr2:165992415

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105435603

1 SubmittersRCV002000271

NM_001330260.2(SCN8A):c.4219C>T (p.Leu1407Phe)

SNV
Germline

Chr12:51786818

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 13

Criteria Provided
Conflicting Classifications

rs_2138904598

2 SubmittersRCV001983663 RCV003314030

NM_172107.4(KCNQ2):c.749T>C (p.Val250Ala)

SNV
Germline

Chr20:63442473

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_118192206

1 SubmittersRCV001983792

NM_001330260.2(SCN8A):c.4568C>A (p.Ala1523Asp)

SNV
Germline

Chr12:51794414

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2138919071

1 SubmittersRCV001876329

NM_001165963.4(SCN1A):c.2940C>A (p.Asn980Lys)

SNV
Germline

Chr2:166037782

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105805349

1 SubmittersRCV001866639

NM_006279.5(ST3GAL3):c.118+1G>A

SNV
Germline

Chr1:43736381

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2154091891

1 SubmittersRCV002018779

NM_001165963.4(SCN1A):c.1036C>T (p.Pro346Ser)

SNV
Germline

Chr2:166047761

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105868306

1 SubmittersRCV002018847

NM_001330260.2(SCN8A):c.5605A>G (p.Met1869Val)

SNV
Germline

Chr12:51807091

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2138944124

1 SubmittersRCV001999506

NM_001165963.4(SCN1A):c.230T>C (p.Leu77Pro)

SNV
Germline

Chr2:166073392

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_2105982276

2 SubmittersRCV001870771 RCV002449505

NM_021072.4(HCN1):c.2606G>A (p.Arg869Lys)

SNV
Germline

Chr5:45261988

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_372807250

2 SubmittersRCV001921589 RCV003348636

NM_172107.4(KCNQ2):c.686G>T (p.Ser229Ile)

SNV
Germline

Chr20:63444663

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145774465

1 SubmittersRCV002007451

NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter)

SNV
Germline

Chr1:43920440

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 15
Intellectual disability, autosomal recessive 12
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_1195818093

4 SubmittersRCV001994497 RCV003224596 RCV004779222 RCV002407174

NM_001165963.4(SCN1A):c.2590-1G>A

SNV
Germline

Chr2:166038133

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105808993

1 SubmittersRCV001933662

NM_001165963.4(SCN1A):c.181C>T (p.Leu61Phe)

SNV
Germline

Chr2:166073441

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105982797

1 SubmittersRCV001942164

NM_001165963.4(SCN1A):c.4582-1G>C

SNV
Germline

Chr2:165994417

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105449923

1 SubmittersRCV001942175

NM_001165963.4(SCN1A):c.5769G>T (p.Gln1923His)

SNV
Germline

Chr2:165991506

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105423415

1 SubmittersRCV001942242

NM_172107.4(KCNQ2):c.308T>A (p.Val103Asp)

SNV
Germline

Chr20:63446826

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145789820

1 SubmittersRCV001929666

NM_001330260.2(SCN8A):c.4487G>A (p.Gly1496Asp)

SNV
Germline

Chr12:51790465

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_762777153

1 SubmittersRCV002000739

NM_001130438.3(SPTAN1):c.6100C>T (p.Gln2034Ter)

SNV
Germline

Chr9:128625799

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2131952314

1 SubmittersRCV001880471

NM_001165963.4(SCN1A):c.859T>G (p.Leu287Val)

SNV
Germline

Chr2:166051824

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_138357595

2 SubmittersRCV001915320 RCV002284500

NM_001330260.2(SCN8A):c.1087T>G (p.Leu363Val)

SNV
Germline

Chr12:51702867

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2138742488

1 SubmittersRCV001931240

NM_001165963.4(SCN1A):c.5302A>G (p.Ser1768Gly)

SNV
Germline

Chr2:165991973

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105429627

1 SubmittersRCV002002485

NM_001165963.4(SCN1A):c.2950C>G (p.Leu984Val)

SNV
Germline

Chr2:166036527

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105797686

1 SubmittersRCV001994882

NM_001330260.2(SCN8A):c.4423G>C (p.Gly1475Arg)

SNV
Germline

Chr12:51790401

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_796053216

1 SubmittersRCV002037567

NM_001330260.2(SCN8A):c.4613C>A (p.Thr1538Lys)

SNV
Germline

Chr12:51794459

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2138919240

1 SubmittersRCV002041510

NM_020988.3(GNAO1):c.124G>A (p.Gly42Arg)

SNV
Germline

Chr16:56192579

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 17

Criteria Provided
Multiple Submitters
No Conflicts

rs_2143272046

2 SubmittersRCV001877856 RCV002246570

NM_001165963.4(SCN1A):c.2596G>C (p.Val866Leu)

SNV
Germline

Chr2:166038126

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105808820

1 SubmittersRCV001953417

NM_001165963.4(SCN1A):c.247T>G (p.Tyr83Asp)

SNV
Germline

Chr2:166073375

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1362796016

1 SubmittersRCV001953484

NM_001032221.6(STXBP1):c.328T>C (p.Cys110Arg)

SNV
Germline

Chr9:127661104

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131454649

2 SubmittersRCV002045587 RCV002466276

NM_001165963.4(SCN1A):c.4427A>G (p.Asn1476Ser)

SNV
Germline

Chr2:165998087

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105476040

1 SubmittersRCV001951007

NM_001330260.2(SCN8A):c.4245G>A (p.Trp1415Ter)

SNV
Germline

Chr12:51788712

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1555228669

1 SubmittersRCV001951025

NM_172107.4(KCNQ2):c.958G>A (p.Val320Ile)

SNV
Germline

Chr20:63438690

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145712541

1 SubmittersRCV002003263

NM_001165963.4(SCN1A):c.751A>T (p.Met251Leu)

SNV
Germline

Chr2:166051932

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105890375

1 SubmittersRCV002043376

NM_172107.4(KCNQ2):c.722T>C (p.Leu241Pro)

SNV
Germline

Chr20:63442500

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145736444

1 SubmittersRCV001894110

NM_001165963.4(SCN1A):c.1109G>A (p.Trp370Ter)

SNV
Germline

Chr2:166047688

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105867367

1 SubmittersRCV001925698

NM_001165963.4(SCN1A):c.740T>C (p.Leu247Pro)

SNV
Germline

Chr2:166051943

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105890490

1 SubmittersRCV001950364

NM_006030.4(CACNA2D2):c.2045+1G>A

SNV
Germline

Chr3:50370319

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2109421369

1 SubmittersRCV001970524

NM_001032221.6(STXBP1):c.1503T>A (p.Tyr501Ter)

SNV
Germline

Chr9:127680198

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1841946692

1 SubmittersRCV001911421

NM_001165963.4(SCN1A):c.986G>A (p.Gly329Asp)

SNV
Germline

Chr2:166048928

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_779184118

1 SubmittersRCV001995946

NM_172107.4(KCNQ2):c.1732A>C (p.Met578Leu)

SNV
Germline

Chr20:63413481

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1057516123

1 SubmittersRCV001995951

NM_001165963.4(SCN1A):c.1133T>A (p.Leu378Gln)

SNV
Germline

Chr2:166047664

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1698003832

2 SubmittersRCV002043145 RCV002511127

NM_001165963.4(SCN1A):c.4286C>T (p.Ala1429Val)

SNV
Germline

Chr2:165999775

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105487145

1 SubmittersRCV001901322

NM_001165963.4(SCN1A):c.5542C>T (p.Gln1848Ter)

SNV
Germline

Chr2:165991733

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105426467

1 SubmittersRCV001956274

NM_001165963.4(SCN1A):c.5374G>A (p.Ala1792Thr)

SNV
Germline

Chr2:165991901

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105428686

1 SubmittersRCV001949456

NM_001165963.4(SCN1A):c.4073G>A (p.Trp1358Ter)

SNV
Germline

Chr2:166002683

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
See cases

Criteria Provided
Multiple Submitters
No Conflicts

rs_121917961

2 SubmittersRCV001949459 RCV002252740

NM_001165963.4(SCN1A):c.3965G>C (p.Arg1322Thr)

SNV
Germline

Chr2:166009756

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2105569996

2 SubmittersRCV001956282 RCV002285521

NM_172107.4(KCNQ2):c.1375C>T (p.Gln459Ter)

SNV
Germline

Chr20:63415053

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145556764

1 SubmittersRCV001949474

NM_001165963.4(SCN1A):c.506C>G (p.Ser169Ter)

SNV
Germline

Chr2:166054734

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105902476

1 SubmittersRCV002039575

NM_001032221.6(STXBP1):c.663+5G>A

SNV
Germline

Chr9:127665336

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2131469592

1 SubmittersRCV001898761

NM_001165963.4(SCN1A):c.5183G>A (p.Gly1728Glu)

SNV
Germline

Chr2:165992092

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105431330

1 SubmittersRCV001972705

NM_001165963.4(SCN1A):c.5269G>A (p.Gly1757Arg)

SNV
Germline

Chr2:165992006

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1553520227

1 SubmittersRCV001956143

NM_001130438.3(SPTAN1):c.2570C>T (p.Ala857Val)

SNV
Germline

Chr9:128585757

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2131193011

1 SubmittersRCV002023377

NM_001032221.6(STXBP1):c.505C>A (p.Leu169Met)

SNV
Germline

Chr9:127663280

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1410933215

2 SubmittersRCV002031932 RCV002551221

NM_001165963.4(SCN1A):c.473+5G>A

SNV
Germline

Chr2:166056406

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1064794634

2 SubmittersRCV001932946 RCV004699554

NM_172107.4(KCNQ2):c.1679G>C (p.Arg560Pro)

SNV
Germline

Chr20:63413534

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1057517919

1 SubmittersRCV001995037

NM_001165963.4(SCN1A):c.4127G>A (p.Cys1376Tyr)

SNV
Germline

Chr2:166002629

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105509347

1 SubmittersRCV001886984

NM_001165963.4(SCN1A):c.4780T>C (p.Ser1594Pro)

SNV
Germline

Chr2:165994218

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105447944

1 SubmittersRCV002023097

NM_172107.4(KCNQ2):c.832A>T (p.Ile278Phe)

SNV
Germline

Chr20:63439693

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_780872303

1 SubmittersRCV002050994

NM_001191061.2(SLC25A22):c.202+1G>A

SNV
Germline

Chr11:794457

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1287249801

1 SubmittersRCV002035158

NM_172107.4(KCNQ2):c.1168C>T (p.Gln390Ter)

SNV
Germline

Chr20:63428416

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_2145637412

2 SubmittersRCV002250792 RCV001982939

NM_003165.6(STXBP1):c.1809G>T (p.Glu603Asp)

SNV
Germline

Chr9:127684474

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2131543392

1 SubmittersRCV002008887

NM_001330260.2(SCN8A):c.4384G>A (p.Val1462Ile)

SNV
Germline

Chr12:51789383

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2138909650

1 SubmittersRCV002020842

NM_172107.4(KCNQ2):c.680C>T (p.Ala227Val)

SNV
Germline

Chr20:63444669

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_2145774563

2 SubmittersRCV002020910 RCV004982855

NM_172107.4(KCNQ2):c.665G>A (p.Gly222Asp)

SNV
Germline

Chr20:63444684

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2145774681

2 SubmittersRCV001903493 RCV004774528

NM_020988.3(GNAO1):c.813G>T (p.Lys271Asn)

SNV
Germline

Chr16:56351473

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_758779535

1 SubmittersRCV001941166

NM_172107.4(KCNQ2):c.354T>G (p.Tyr118Ter)

SNV
Germline

Chr20:63446780

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2145789339

1 SubmittersRCV001959118

NM_001165963.4(SCN1A):c.5383G>T (p.Glu1795Ter)

SNV
Germline

Chr2:165991892

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_121918813

1 SubmittersRCV001963142

NM_001330260.2(SCN8A):c.828C>A (p.Asn276Lys)

SNV
Germline

Chr12:51699691

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2138735794

1 SubmittersRCV002048274

NM_021072.4(HCN1):c.1201G>A (p.Asp401Asn)

SNV
Germline

Chr5:45396521

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_587777491

2 SubmittersRCV002029408 RCV004785458

NM_001330260.2(SCN8A):c.1201T>C (p.Tyr401His)

SNV
Germline

Chr12:51705483

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2138748186

2 SubmittersRCV002029535 RCV002548806

NM_001165963.4(SCN1A):c.5136C>G (p.Asn1712Lys)

SNV
Germline

Chr2:165992139

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105432013

1 SubmittersRCV001966791

NM_172107.4(KCNQ2):c.792C>G (p.Tyr264Ter)

SNV
Germline

Chr20:63442430

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_143399744

1 SubmittersRCV001948640

NM_172107.4(KCNQ2):c.927+1G>T

SNV
Germline

Chr20:63439597

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1555870346

1 SubmittersRCV001975035

NM_001165963.4(SCN1A):c.1786A>G (p.Ser596Gly)

SNV
Germline

Chr2:166043926

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1697479557

2 SubmittersRCV001909667 RCV004762239

NM_001130438.3(SPTAN1):c.1086-2A>C

SNV
Germline

Chr9:128578108

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2131028639

1 SubmittersRCV002040820

NM_001165963.4(SCN1A):c.2085T>G (p.Ser695Arg)

SNV
Germline

Chr2:166042383

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_764865083

2 SubmittersRCV001887609 RCV002511101

NM_001165963.4(SCN1A):c.1574C>T (p.Ser525Phe)

SNV
Germline

Chr2:166045131

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1697647054

1 SubmittersRCV001979725

NM_001165963.4(SCN1A):c.5062G>A (p.Gly1688Arg)

SNV
Germline

Chr2:165992213

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2105432939

2 SubmittersRCV001988547 RCV003136419

NM_006030.4(CACNA2D2):c.1390-1G>C

SNV
Germline

Chr3:50378098

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2106652662

1 SubmittersRCV002021107

NM_001330260.2(SCN8A):c.82C>T (p.Arg28Cys)

SNV
Germline

Chr12:51662899

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases
Developmental and epileptic encephalopathy, 13

Criteria Provided
Conflicting Classifications

rs_768570935

4 SubmittersRCV002509706 RCV002047554 RCV002425109 RCV004813192

NM_001165963.4(SCN1A):c.383C>A (p.Ser128Ter)

SNV
Germline

Chr2:166058570

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_2105917674

1 SubmittersRCV002039735

NM_001130438.3(SPTAN1):c.2412G>C (p.Glu804Asp)

SNV
Germline

Chr9:128584500

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_767815914

2 SubmittersRCV001962529 RCV002442902

NM_172107.4(KCNQ2):c.626T>G (p.Ile209Ser)

SNV
Germline

Chr20:63444723

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

rs_1600785769

1 SubmittersRCV001997743

NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val)

SNV
Germline

Chr12:51686396

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
SCN8A-related disorder
Seizures, benign familial infantile, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2138711868

4 SubmittersRCV001957044 RCV003336489 RCV002281585 RCV002511120

NM_021072.4(HCN1):c.319A>G (p.Asn107Asp)

SNV
Germline

Chr5:45695775

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2112108878

2 SubmittersRCV002210781 RCV002325705

NM_001032221.6(STXBP1):c.134G>T (p.Cys45Phe)

SNV
Germline

Chr9:127653761

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1840656429

2 SubmittersRCV002151970 RCV004047024

NM_001330260.2(SCN8A):c.168C>T (p.Asn56=)

SNV
Germline

Chr12:51662985

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1940955072

2 SubmittersRCV002082060 RCV004763333

NM_172107.4(KCNQ2):c.1149-8T>C

SNV
Germline

Chr20:63428443

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1459803620

2 SubmittersRCV002084821 RCV004584944

NM_001032221.6(STXBP1):c.1391G>A (p.Arg464Gln)

SNV
Germline

Chr9:127678462

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1381421236

2 SubmittersRCV002154395 RCV003070676

NM_020988.3(GNAO1):c.594-15C>A

SNV
Germline

Chr16:56336716

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
not specified

Criteria Provided
Conflicting Classifications

rs_747946596

2 SubmittersRCV002207950 RCV003226531

NM_001191061.2(SLC25A22):c.210T>G (p.Ala70=)

SNV
Germline

Chr11:793612

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1864648097

2 SubmittersRCV002144932 RCV002224146

NM_001165963.4(SCN1A):c.4848T>C (p.Ile1616=)

SNV
Germline

Chr2:165994150

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1379533666

3 SubmittersRCV002177878 RCV003138070 RCV002337208

NM_001165963.4(SCN1A):c.2007A>G (p.Pro669=)

SNV
Germline

Chr2:166043705

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_993370830

2 SubmittersRCV002073918 RCV003227062

NM_001165963.4(SCN1A):c.5218G>T (p.Asp1740Tyr)

SNV
Germline

Chr2:165992057

Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_796053035

2 SubmittersRCV002214175 RCV003093846

NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His)

SNV
Germline

Chr9:128632128

Conflicting classifications of pathogenicity

not specified
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

rs_201693154

3 SubmittersRCV002248871 RCV003094002 RCV003485771

NM_172107.4(KCNQ2):c.638G>T (p.Arg213Leu)

SNV
Germline

Chr20:63444711

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_397514581

2 SubmittersRCV003753217 RCV002250066

NM_172107.4(KCNQ2):c.3G>A (p.Met1Ile)

SNV
Germline

Chr20:63472461

Pathogenic

Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_866273848

2 SubmittersRCV002250067 RCV003094029

NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp)

SNV
Germline

Chr2:166002644

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_865867764

2 SubmittersRCV003588783 RCV002250311

NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg)

SNV
Germline

Chr2:166037943

Pathogenic/Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

rs_2105807206

2 SubmittersRCV002250316 RCV003588784

NM_172107.4(KCNQ2):c.1291G>A (p.Gly431Arg)

SNV
Germline

Chr20:63419629

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 7
Seizures, benign familial neonatal, 1
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_746853951

3 SubmittersRCV002254386 RCV003588787 RCV004982954

NM_139137.4(KCNC2):c.1213A>G (p.Arg405Gly)

SNV
Germline

Chr12:75050792

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

No Assertion Criteria Provided

rs_2136944093

1 SubmittersRCV002266114

NM_001165963.4(SCN1A):c.1838G>A (p.Arg613Gln)

SNV
Germline

Chr2:166043874

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_755323236

3 SubmittersRCV002267346 RCV003096064

NM_020988.3(GNAO1):c.789C>G (p.Thr263=)

SNV
Germline

Chr16:56351449

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_1265902011

2 SubmittersRCV002273430 RCV003774869

NM_172107.4(KCNQ2):c.88G>A (p.Gly30Ser)

SNV
Germline

Chr20:63472376

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
See cases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

rs_915805727

4 SubmittersRCV002373067 RCV003434463 RCV004584483 RCV003774879

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

SNV
Germline

Chr2:165998134

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002284137 RCV003753228

NM_172107.4(KCNQ2):c.850T>C (p.Tyr284His)

SNV
Germline

Chr20:63439675

Pathogenic

Developmental and epileptic encephalopathy, 7
Complex neurodevelopmental disorder
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002289055 RCV003315373 RCV003588801

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

SNV
Germline

Chr2:165992098

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002289212 RCV003097773

NM_172107.4(KCNQ2):c.1027G>A (p.Ala343Thr)

SNV
Germline

Chr20:63433900

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002303397

NM_001330260.2(SCN8A):c.2675T>C (p.Val892Ala)

SNV
Germline

Chr12:51765801

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002300309 RCV003328697

NM_172107.4(KCNQ2):c.715G>A (p.Gly239Ser)

SNV
Germline

Chr20:63442507

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Seizures, benign familial neonatal, 1
Developmental and epileptic encephalopathy, 7

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002297503 RCV003318716 RCV003883196

NM_001165963.4(SCN1A):c.2977A>G (p.Ser993Gly)

SNV
Germline

Chr2:166036500

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002305222 RCV004725219

NM_001165963.4(SCN1A):c.2431T>C (p.Phe811Leu)

SNV
Germline

Chr2:166039581

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002296061

NM_001165963.4(SCN1A):c.1234T>G (p.Phe412Val)

SNV
Germline

Chr2:166046913

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002302182

NM_001330260.2(SCN8A):c.4422C>T (p.Phe1474=)

SNV
Germline

Chr12:51790400

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002333910 RCV003094693

NM_001330260.2(SCN8A):c.477G>A (p.Lys159=)

SNV
Germline

Chr12:51686449

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002330683 RCV003096462

NM_001130438.3(SPTAN1):c.1650T>C (p.Ala550=)

SNV
Germline

Chr9:128582556

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002403660 RCV003097060

NM_001330260.2(SCN8A):c.4475T>C (p.Met1492Thr)

SNV
Germline

Chr12:51790453

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002466365 RCV003775490

NM_172107.4(KCNQ2):c.523G>T (p.Val175Leu)

SNV
Germline

Chr20:63444826

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003064617

NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)

SNV
Germline

Chr9:128605095

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental delay with or without epilepsy
Neuronopathy, distal hereditary motor, autosomal dominant 11
Developmental and epileptic encephalopathy, 5
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003056736 RCV004731484

NM_001165963.4(SCN1A):c.4338+1G>A

SNV
Germline

Chr2:165999722

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003068985

NM_001032221.6(STXBP1):c.429+1G>A

SNV
Germline

Chr9:127661206

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003037332

NM_001032221.6(STXBP1):c.1110+1G>A

SNV
Germline

Chr9:127673262

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003058233

NM_001165963.4(SCN1A):c.4852+5G>C

SNV
Germline

Chr2:165994141

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003093763

NM_001165963.4(SCN1A):c.2176+1G>A

SNV
Germline

Chr2:166042291

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003074919

NM_001165963.4(SCN1A):c.1327G>T (p.Glu443Ter)

SNV
Germline

Chr2:166046820

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003074920

NM_020988.3(GNAO1):c.155A>C (p.Gln52Pro)

SNV
Germline

Chr16:56192610

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003074982

NM_172107.4(KCNQ2):c.826A>C (p.Thr276Pro)

SNV
Germline

Chr20:63439699

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Complex neurodevelopmental disorder

Criteria Provided
Single Submitter

2 SubmittersRCV003061638 RCV003315375

NM_020988.3(GNAO1):c.723+9C>T

SNV
Germline

Chr16:56336869

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 17
Neurodevelopmental disorder with involuntary movements

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003081423 RCV003224641

NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val)

SNV
Germline

Chr9:127666232

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003087040 RCV003138516 RCV004073312

NM_001165963.4(SCN1A):c.3986G>C (p.Arg1329Pro)

SNV
Germline

Chr2:166009735

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003084859

NM_001165963.4(SCN1A):c.2951T>G (p.Leu984Arg)

SNV
Germline

Chr2:166036526

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003100634

NM_001165963.4(SCN1A):c.3235G>A (p.Val1079Ile)

SNV
Germline

Chr2:166036242

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002619910 RCV003327587

NM_001165963.4(SCN1A):c.1867A>C (p.Ser623Arg)

SNV
Germline

Chr2:166043845

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002628141 RCV003328715

NM_001130438.3(SPTAN1):c.7154C>T (p.Pro2385Leu)

SNV
Germline

Chr9:128632712

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002620132 RCV003989807

NM_001165963.4(SCN1A):c.5170G>A (p.Ala1724Thr)

SNV
Germline

Chr2:165992105

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651531

NM_001165963.4(SCN1A):c.4888G>C (p.Val1630Leu)

SNV
Germline

Chr2:165992387

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651534

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
Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002510640 RCV002569439 RCV003493962

NM_001165963.4(SCN1A):c.4852+2T>C

SNV
Germline

Chr2:165994144

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651535

NM_001165963.4(SCN1A):c.4664T>G (p.Met1555Arg)

SNV
Germline

Chr2:165994334

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002664262

NM_001165963.4(SCN1A):c.4261G>T (p.Gly1421Trp)

SNV
Germline

Chr2:166002495

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651539

NM_001165963.4(SCN1A):c.4181C>T (p.Thr1394Ile)

SNV
Germline

Chr2:166002575

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651540

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

SNV
Germline

Chr2:166002684

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651541

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

SNV
Germline

Chr2:166009739

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651542

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

SNV
Germline

Chr2:166012108

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651543

NM_001165963.4(SCN1A):c.3706-2A>G

SNV
Germline

Chr2:166012284

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002664263

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

SNV
Germline

Chr2:166013743

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651545

NM_001165963.4(SCN1A):c.3661G>A (p.Glu1221Lys)

SNV
Germline

Chr2:166013788

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651546

NM_001165963.4(SCN1A):c.3430-1G>A

SNV
Germline

Chr2:166015728

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651547

NM_001165963.4(SCN1A):c.3429+5G>A

SNV
Germline

Chr2:166036043

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651548

NM_001165963.4(SCN1A):c.3429+2T>C

SNV
Germline

Chr2:166036046

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002664264

NM_001165963.4(SCN1A):c.2942T>C (p.Leu981Pro)

SNV
Germline

Chr2:166037780

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651549

NM_001165963.4(SCN1A):c.970C>A (p.His324Asn)

SNV
Germline

Chr2:166048944

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651553

NM_001165963.4(SCN1A):c.931G>T (p.Glu311Ter)

SNV
Germline

Chr2:166051752

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002664268

NM_001165963.4(SCN1A):c.829T>C (p.Cys277Arg)

SNV
Germline

Chr2:166051854

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651554

NM_001165963.4(SCN1A):c.693A>T (p.Pro231=)

SNV
Germline

Chr2:166052853

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651555

NM_001165963.4(SCN1A):c.573C>G (p.Asn191Lys)

SNV
Germline

Chr2:166054667

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002664269

NM_001165963.4(SCN1A):c.495T>A (p.Tyr165Ter)

SNV
Germline

Chr2:166054745

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651558

NM_001165963.4(SCN1A):c.265-1G>C

SNV
Germline

Chr2:166058689

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002651559

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

SNV
Germline

Chr2:166073615

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002651560 RCV004763552

NM_001165963.4(SCN1A):c.2875T>G (p.Cys959Gly)

SNV
Germline

Chr2:166037847

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003112130

NM_001165963.4(SCN1A):c.298T>G (p.Phe100Val)

SNV
Germline

Chr2:166058655

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003112131

NM_001330260.2(SCN8A):c.5311G>A (p.Val1771Ile)

SNV
Germline

Chr12:51806797

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003154287 RCV003112249

NM_172107.4(KCNQ2):c.461A>G (p.Tyr154Cys)

SNV
Germline

Chr20:63445291

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002577618

NM_001165963.4(SCN1A):c.4374C>A (p.Tyr1458Ter)

SNV
Germline

Chr2:165998140

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002613186

NM_001165963.4(SCN1A):c.3986G>T (p.Arg1329Leu)

SNV
Germline

Chr2:166009735

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002594420

NM_001165963.4(SCN1A):c.1184C>A (p.Ala395Asp)

SNV
Germline

Chr2:166046963

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002613187 RCV004593039

NM_001130438.3(SPTAN1):c.7355C>T (p.Pro2452Leu)

SNV
Germline

Chr9:128633255

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002622741 RCV003487288 RCV003289574

NM_020988.3(GNAO1):c.530G>A (p.Arg177Gln)

SNV
Germline

Chr16:56334794

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided
GNAO1-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002670808 RCV003318729 RCV003973461

NM_172107.4(KCNQ2):c.704C>G (p.Ala235Gly)

SNV
Germline

Chr20:63442518

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002710198

NM_006030.4(CACNA2D2):c.235C>T (p.Gln79Ter)

SNV
Germline

Chr3:50476171

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002710661

NM_001130438.3(SPTAN1):c.6199A>G (p.Met2067Val)

SNV
Germline

Chr9:128625898

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 5
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
Developmental delay with or without epilepsy
Neuronopathy, distal hereditary motor, autosomal dominant 11

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002726042 RCV004731288

NM_001165963.4(SCN1A):c.602+5G>C

SNV
Germline

Chr2:166054633

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002701274

NM_172107.4(KCNQ2):c.943G>A (p.Gly315Arg)

SNV
Germline

Chr20:63438705

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002710737

NM_001165963.4(SCN1A):c.5767C>T (p.Gln1923Ter)

SNV
Germline

Chr2:165991508

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002735242

NM_001165963.4(SCN1A):c.236A>G (p.Asp79Gly)

SNV
Germline

Chr2:166073386

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002741074

NM_001165963.4(SCN1A):c.4426A>T (p.Asn1476Tyr)

SNV
Germline

Chr2:165998088

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002711858

NM_001165963.4(SCN1A):c.1184C>G (p.Ala395Gly)

SNV
Germline

Chr2:166046963

Likely pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003159234 RCV002805530

NM_001165963.4(SCN1A):c.4786C>A (p.Arg1596Ser)

SNV
Germline

Chr2:165994212

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002801351

NM_001165963.4(SCN1A):c.2368T>A (p.Tyr790Asn)

SNV
Germline

Chr2:166041278

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002801394

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

SNV
Germline

Chr2:166012104

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002796511

NM_001330260.2(SCN8A):c.2942G>T (p.Ser981Ile)

SNV
Germline

Chr12:51768905

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002807295

NM_001165963.4(SCN1A):c.2974C>A (p.Leu992Met)

SNV
Germline

Chr2:166036503

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002801118

NM_172107.4(KCNQ2):c.272G>A (p.Trp91Ter)

SNV
Germline

Chr20:63472192

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002791124

NM_001165963.4(SCN1A):c.1232C>T (p.Ser411Leu)

SNV
Germline

Chr2:166046915

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002819639

NM_001330260.2(SCN8A):c.4934T>G (p.Met1645Arg)

SNV
Germline

Chr12:51806420

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002810928

NM_172107.4(KCNQ2):c.1684T>A (p.Tyr562Asn)

SNV
Germline

Chr20:63413529

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002811010

NM_001165963.4(SCN1A):c.3926T>C (p.Leu1309Pro)

SNV
Germline

Chr2:166009795

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002833103

NM_001032221.6(STXBP1):c.1702+2T>G

SNV
Germline

Chr9:127682562

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002812034

NM_001330260.2(SCN8A):c.5816C>T (p.Pro1939Leu)

SNV
Germline

Chr12:51807302

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002828904

NM_172107.4(KCNQ2):c.1764-1G>A

SNV
Germline

Chr20:63408537

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002856178

NM_001165963.4(SCN1A):c.3920C>G (p.Ser1307Ter)

SNV
Germline

Chr2:166009801

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002839049

NM_001032221.6(STXBP1):c.2T>G (p.Met1Arg)

SNV
Germline

Chr9:127612405

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002847027 RCV004794596

NM_001165963.4(SCN1A):c.982G>T (p.Glu328Ter)

SNV
Germline

Chr2:166048932

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002833817

NM_001165963.4(SCN1A):c.4759G>C (p.Glu1587Gln)

SNV
Germline

Chr2:165994239

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002850999

NM_006279.5(ST3GAL3):c.210-1G>C

SNV
Germline

Chr1:43838218

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002829514

NM_001165963.4(SCN1A):c.2273A>C (p.Lys758Thr)

SNV
Germline

Chr2:166041373

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002830218

NM_172107.4(KCNQ2):c.1640G>T (p.Arg547Leu)

SNV
Germline

Chr20:63413573

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002837540

NM_001165963.4(SCN1A):c.5734C>G (p.Arg1912Gly)

SNV
Germline

Chr2:165991541

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002829098

NM_021072.4(HCN1):c.908G>T (p.Gly303Val)

SNV
Germline

Chr5:45461949

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002830017

NM_001165963.4(SCN1A):c.703A>G (p.Thr235Ala)

SNV
Germline

Chr2:166051980

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002843802

NM_001165963.4(SCN1A):c.5567T>G (p.Met1856Arg)

SNV
Germline

Chr2:165991708

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002843828

NM_001165963.4(SCN1A):c.4594G>T (p.Gly1532Ter)

SNV
Germline

Chr2:165994404

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002863149

NM_021072.4(HCN1):c.1159G>A (p.Ala387Thr)

SNV
Germline

Chr5:45396563

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002866898

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

SNV
Germline

Chr2:166051736

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002880770 RCV003483899

NM_001191061.2(SLC25A22):c.760C>T (p.Gln254Ter)

SNV
Germline

Chr11:792200

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002898754

NM_001165963.4(SCN1A):c.4906C>G (p.Arg1636Gly)

SNV
Germline

Chr2:165992369

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002867072

NM_001165963.4(SCN1A):c.1051T>G (p.Cys351Gly)

SNV
Germline

Chr2:166047746

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002881533

NM_001165963.4(SCN1A):c.2861A>G (p.Glu954Gly)

SNV
Germline

Chr2:166037861

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002866124

NM_001165963.4(SCN1A):c.727T>C (p.Ser243Pro)

SNV
Germline

Chr2:166051956

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002857454

NM_001165963.4(SCN1A):c.2921T>G (p.Met974Arg)

SNV
Germline

Chr2:166037801

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002880645

NM_001165963.4(SCN1A):c.242A>T (p.Asp81Val)

SNV
Germline

Chr2:166073380

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002858626

NM_172107.4(KCNQ2):c.658C>A (p.Leu220Met)

SNV
Germline

Chr20:63444691

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002889462

NM_006030.4(CACNA2D2):c.3034C>T (p.Gln1012Ter)

SNV
Germline

Chr3:50365420

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002894044

NM_001165963.4(SCN1A):c.693A>G (p.Pro231=)

SNV
Germline

Chr2:166052853

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002876833

NM_001191061.2(SLC25A22):c.439C>T (p.Gln147Ter)

SNV
Germline

Chr11:792701

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002871100

NM_001032221.6(STXBP1):c.1011C>G (p.Tyr337Ter)

SNV
Germline

Chr9:127672098

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002862600

NM_001165963.4(SCN1A):c.5709T>A (p.Tyr1903Ter)

SNV
Germline

Chr2:165991566

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002852822

NM_001165963.4(SCN1A):c.613G>T (p.Glu205Ter)

SNV
Germline

Chr2:166052933

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002847818

NM_006030.4(CACNA2D2):c.2234+1G>T

SNV
Germline

Chr3:50367811

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002880352

NM_001165963.4(SCN1A):c.241G>T (p.Asp81Tyr)

SNV
Germline

Chr2:166073381

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002880420

NM_001165963.4(SCN1A):c.3982T>G (p.Ser1328Ala)

SNV
Germline

Chr2:166009739

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002889282

NM_001032221.6(STXBP1):c.1702+2T>C

SNV
Germline

Chr9:127682562

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002894259

NM_001165963.4(SCN1A):c.1030C>T (p.Gln344Ter)

SNV
Germline

Chr2:166047767

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002894317

NM_172107.4(KCNQ2):c.1021C>T (p.Gln341Ter)

SNV
Germline

Chr20:63438627

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002867387 RCV004554888

NM_001165963.4(SCN1A):c.2264T>G (p.Leu755Ter)

SNV
Germline

Chr2:166041382

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002867490

NM_172107.4(KCNQ2):c.387+1G>A

SNV
Germline

Chr20:63446746

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Seizures, benign familial neonatal, 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002877150 RCV004577960

NM_001165963.4(SCN1A):c.969T>G (p.Tyr323Ter)

SNV
Germline

Chr2:166048945

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002877181

NM_001165963.4(SCN1A):c.3692G>T (p.Ser1231Ile)

SNV
Germline

Chr2:166013757

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
SCN1A-related disorder

Criteria Provided
Single Submitter

2 SubmittersRCV002889741 RCV004536424

NM_001165963.4(SCN1A):c.754A>C (p.Ile252Leu)

SNV
Germline

Chr2:166051929

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002894791

NM_001165963.4(SCN1A):c.2618G>C (p.Trp873Ser)

SNV
Germline

Chr2:166038104

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002899123

NM_001165963.4(SCN1A):c.5150T>G (p.Leu1717Arg)

SNV
Germline

Chr2:165992125

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002912990

NM_001165963.4(SCN1A):c.1635T>G (p.Tyr545Ter)

SNV
Germline

Chr2:166045070

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002872506

NM_001165963.4(SCN1A):c.3966A>C (p.Arg1322Ser)

SNV
Germline

Chr2:166009755

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002877478

NM_001330260.2(SCN8A):c.2726A>G (p.Asn909Ser)

SNV
Germline

Chr12:51765852

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002908828 RCV003321962

NM_001165963.4(SCN1A):c.4002+2361C>G

SNV
Germline

Chr2:166007358

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002872309

NM_001165963.4(SCN1A):c.3973A>T (p.Arg1325Ter)

SNV
Germline

Chr2:166009748

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002899491

NM_001165963.4(SCN1A):c.1047T>A (p.Tyr349Ter)

SNV
Germline

Chr2:166047750

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002914463

NM_001032221.6(STXBP1):c.1702G>C (p.Gly568Arg)

SNV
Germline

Chr9:127682560

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002947244

NM_001032221.6(STXBP1):c.663+2T>C

SNV
Germline

Chr9:127665333

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002938817

NM_139318.5(KCNH5):c.2621G>A (p.Arg874His)

SNV
Germline

Chr14:62707854

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003269333 RCV002942232

NM_006279.5(ST3GAL3):c.167-2A>G

SNV
Germline

Chr1:43814889

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002957222

NM_021072.4(HCN1):c.20C>G (p.Pro7Arg)

SNV
Germline

Chr5:45696074

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004066199 RCV002904040

NM_001165963.4(SCN1A):c.517A>T (p.Ile173Phe)

SNV
Germline

Chr2:166054723

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002958537

NM_001165963.4(SCN1A):c.4245T>A (p.Phe1415Leu)

SNV
Germline

Chr2:166002511

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002942835

NM_001165963.4(SCN1A):c.5122G>A (p.Glu1708Lys)

SNV
Germline

Chr2:165992153

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002958012

NM_006279.5(ST3GAL3):c.891+2T>G

SNV
Germline

Chr1:43920552

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002962288

NM_001165963.4(SCN1A):c.2194C>T (p.Gln732Ter)

SNV
Germline

Chr2:166041452

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003002207

NM_001165963.4(SCN1A):c.5008T>C (p.Leu1670=)

SNV
Germline

Chr2:165992267

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002996374 RCV003138436

NM_172107.4(KCNQ2):c.1525+2T>C

SNV
Germline

Chr20:63414901

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003015532

NM_172107.4(KCNQ2):c.830C>G (p.Thr277Ser)

SNV
Germline

Chr20:63439695

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002944269

NM_001165963.4(SCN1A):c.4958C>T (p.Ala1653Val)

SNV
Germline

Chr2:165992317

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002994068

NM_172107.4(KCNQ2):c.1865G>C (p.Arg622Pro)

SNV
Germline

Chr20:63408435

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002994079

NM_001165963.4(SCN1A):c.3696T>G (p.Ser1232Arg)

SNV
Germline

Chr2:166013753

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003007379

NM_001165963.4(SCN1A):c.4046A>C (p.Asn1349Thr)

SNV
Germline

Chr2:166002710

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV002999806

NM_001032221.6(STXBP1):c.1074C>G (p.Tyr358Ter)

SNV
Germline

Chr9:127673225

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003010367

NM_001165963.4(SCN1A):c.709G>C (p.Val237Leu)

SNV
Germline

Chr2:166051974

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003016923

NM_001130438.3(SPTAN1):c.4201T>A (p.Phe1401Ile)

SNV
Germline

Chr9:128607906

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002996975 RCV004068556

NM_001165963.4(SCN1A):c.3641T>A (p.Ile1214Lys)

SNV
Germline

Chr2:166013808

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003021295

NM_001165963.4(SCN1A):c.1561C>T (p.Gln521Ter)

SNV
Germline

Chr2:166045144

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003028459

NM_172107.4(KCNQ2):c.634G>A (p.Asp212Asn)

SNV
Germline

Chr20:63444715

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003006396

NM_172107.4(KCNQ2):c.1665C>G (p.Phe555Leu)

SNV
Germline

Chr20:63413548

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003022870

NM_001130438.3(SPTAN1):c.7210G>A (p.Glu2404Lys)

SNV
Germline

Chr9:128632857

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004593125 RCV003008491

NM_001165963.4(SCN1A):c.2851G>A (p.Glu951Lys)

SNV
Germline

Chr2:166037871

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003025870

NM_001130438.3(SPTAN1):c.3299C>T (p.Ala1100Val)

SNV
Germline

Chr9:128594258

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003045444 RCV005001339

NM_001165963.4(SCN1A):c.2660T>A (p.Val887Glu)

SNV
Germline

Chr2:166038062

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003029681

NM_001165963.4(SCN1A):c.4169T>C (p.Val1390Ala)

SNV
Germline

Chr2:166002587

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003029337

NM_001165963.4(SCN1A):c.5182G>C (p.Gly1728Arg)

SNV
Germline

Chr2:165992093

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003027214

NM_172107.4(KCNQ2):c.545T>C (p.Val182Ala)

SNV
Germline

Chr20:63444804

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Neonatal encephalopathy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003042980 RCV003154079

NM_001165963.4(SCN1A):c.3883T>C (p.Ser1295Pro)

SNV
Germline

Chr2:166009838

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003031242 RCV004697245

NM_001165963.4(SCN1A):c.3429+5G>T

SNV
Germline

Chr2:166036043

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003031282 RCV004763510

NM_001165963.4(SCN1A):c.4537A>T (p.Lys1513Ter)

SNV
Germline

Chr2:165996057

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003038271

NM_001330260.2(SCN8A):c.828C>G (p.Asn276Lys)

SNV
Germline

Chr12:51699691

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003027071

NM_020988.3(GNAO1):c.275G>A (p.Gly92Asp)

SNV
Germline

Chr16:56276044

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003019904 RCV003320909

NM_001165963.4(SCN1A):c.367A>T (p.Lys123Ter)

SNV
Germline

Chr2:166058586

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003035269

NM_001165963.4(SCN1A):c.2561G>A (p.Gly854Glu)

SNV
Germline

Chr2:166039451

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003059340

NM_006030.4(CACNA2D2):c.784+2T>G

SNV
Germline

Chr3:50380993

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003049744

NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)

SNV
Germline

Chr12:51751489

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 13

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003057861 RCV003322638

NM_172107.4(KCNQ2):c.1248T>C (p.Ser416=)

SNV
Germline

Chr20:63419672

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003058005 RCV004983282

NM_021072.4(HCN1):c.585G>T (p.Arg195Ser)

SNV
Germline

Chr5:45645449

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003057774

NM_001032221.6(STXBP1):c.1316T>A (p.Ile439Asn)

SNV
Germline

Chr9:127676710

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003034951

NM_172107.4(KCNQ2):c.718T>G (p.Phe240Val)

SNV
Germline

Chr20:63442504

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003047079

NM_172107.4(KCNQ2):c.563A>G (p.Gln188Arg)

SNV
Germline

Chr20:63444786

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003039725

NM_001165963.4(SCN1A):c.2807A>C (p.Asp936Ala)

SNV
Germline

Chr2:166037915

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003058046

NM_001165963.4(SCN1A):c.4242C>A (p.Asn1414Lys)

SNV
Germline

Chr2:166002514

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003041079

NM_001130438.3(SPTAN1):c.3520-2A>G

SNV
Germline

Chr9:128598961

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003066266

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

SNV
Germline

Chr2:166052945

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003066335

NM_001165963.4(SCN1A):c.1217T>C (p.Val406Ala)

SNV
Germline

Chr2:166046930

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003059647

NM_001165963.4(SCN1A):c.232G>A (p.Glu78Lys)

SNV
Germline

Chr2:166073390

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003062062

NM_021072.4(HCN1):c.1949C>T (p.Thr650Ile)

SNV
Germline

Chr5:45262645

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002798005 RCV003777773 RCV003135238

NM_001330260.2(SCN8A):c.2540G>A (p.Arg847Gln)

SNV
Germline

Chr12:51762672

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002813030 RCV003753253 RCV003126276

NM_021072.4(HCN1):c.2252C>T (p.Pro751Leu)

SNV
Germline

Chr5:45262342

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002739340 RCV003588861

NM_001165963.4(SCN1A):c.4002+2420G>A

SNV
Germline

Chr2:166007299

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003128179 RCV003753260

NM_001165963.4(SCN1A):c.4396T>G (p.Phe1466Val)

SNV
Germline

Chr2:165998118

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003753262 RCV003142270

NM_001165963.4(SCN1A):c.3880-1G>A

SNV
Germline

Chr2:166009842

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003588864 RCV003133914

NM_001165963.4(SCN1A):c.2078G>A (p.Arg693Lys)

SNV
Germline

Chr2:166042390

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003136423 RCV003778784

NM_001165963.4(SCN1A):c.1171-6T>C

SNV
Germline

Chr2:166046982

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003136425 RCV003588868

NM_001130438.3(SPTAN1):c.6960-3C>T

SNV
Germline

Chr9:128632428

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003753264 RCV003223316

NM_001122955.4(BSCL2):c.446C>G (p.Pro149Arg)

SNV
Germline

Chr11:62702508

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003225675

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

SNV
Germline

Chr2:166046961

Pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003314358 RCV003753267

NM_172107.4(KCNQ2):c.923C>T (p.Pro308Leu)

SNV
Germline

Chr20:63439602

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003314368 RCV003588886

NM_172107.4(KCNQ2):c.846C>A (p.Asp282Glu)

SNV
Germline

Chr20:63439679

Pathogenic

Complex neurodevelopmental disorder
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

2 SubmittersRCV003315390 RCV003753268

NM_020988.3(GNAO1):c.1046G>A (p.Arg349Gln)

SNV
Germline

Chr16:56355034

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003329973 RCV003753269

NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)

SNV
Germline

Chr12:51721586

Conflicting classifications of pathogenicity

Seizures, benign familial infantile, 5
Condition: not provided
Myoclonus, familial, 2
Developmental and epileptic encephalopathy, 13
Cognitive impairment with or without cerebellar ataxia
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003333256 RCV003330044 RCV003333257 RCV003333255 RCV003333254 RCV003588891

NM_021072.4(HCN1):c.654A>G (p.Leu218=)

SNV
Germline

Chr5:45645380

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003334272 RCV003777416

NM_001130438.3(SPTAN1):c.1642C>T (p.Arg548Ter)

SNV
Germline

Chr9:128582548

Pathogenic

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003334313 RCV003777418

NM_172107.4(KCNQ2):c.937G>A (p.Gly313Arg)

SNV
Germline

Chr20:63438711

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 7
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003335838 RCV003588892 RCV003886622

NM_172107.4(KCNQ2):c.920T>C (p.Leu307Pro)

SNV
Germline

Chr20:63439605

Pathogenic/Likely pathogenic

KCNQ2-related disorder
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003335849 RCV003588893

NM_172107.4(KCNQ2):c.857A>C (p.Gln286Pro)

SNV
Germline

Chr20:63439668

Conflicting classifications of pathogenicity

KCNQ2-related disorder
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003444143 RCV003753276

NM_001032221.6(STXBP1):c.1407C>T (p.Ser469=)

SNV
Germline

Chr9:127678478

Conflicting classifications of pathogenicity

STXBP1-related disorder
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004552625 RCV003588908

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

SNV
Germline

Chr2:166002632

Likely pathogenic

Severe myoclonic epilepsy in infancy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003455878 RCV003753295

NM_001191061.2(SLC25A22):c.133G>T (p.Val45Leu)

SNV
Germline

Chr11:794789

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003753297 RCV003481996

NM_001330260.2(SCN8A):c.5272G>A (p.Val1758Met)

SNV
Germline

Chr12:51806758

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003542511 RCV003753300

NM_172107.4(KCNQ2):c.1873A>T (p.Lys625Ter)

SNV
Germline

Chr20:63408427

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589002

NM_001165963.4(SCN1A):c.4111G>A (p.Gly1371Ser)

SNV
Germline

Chr2:166002645

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589009

NM_001130438.3(SPTAN1):c.1572+1G>T

SNV
Germline

Chr9:128581893

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589502

NM_001130438.3(SPTAN1):c.1339G>T (p.Glu447Ter)

SNV
Germline

Chr9:128580937

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589730

NM_172107.4(KCNQ2):c.2154G>A (p.Trp718Ter)

SNV
Germline

Chr20:63407109

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589770

NM_001032221.6(STXBP1):c.754A>G (p.Met252Val)

SNV
Germline

Chr9:127666256

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588952

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

SNV
Germline

Chr2:166037775

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589602

NM_172107.4(KCNQ2):c.816+2T>G

SNV
Germline

Chr20:63442404

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589659

NM_001191061.2(SLC25A22):c.658G>T (p.Glu220Ter)

SNV
Germline

Chr11:792388

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589714

NM_001165963.4(SCN1A):c.3663G>C (p.Glu1221Asp)

SNV
Germline

Chr2:166013786

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589761

NM_001330260.2(SCN8A):c.929-2A>G

SNV
Germline

Chr12:51701142

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589734

NM_001330260.2(SCN8A):c.1498C>T (p.Gln500Ter)

SNV
Germline

Chr12:51706578

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589885

NM_001165963.4(SCN1A):c.494A>G (p.Tyr165Cys)

SNV
Germline

Chr2:166054746

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589986

NM_001165963.4(SCN1A):c.295A>G (p.Ile99Val)

SNV
Germline

Chr2:166058658

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589971

NM_172107.4(KCNQ2):c.1024-1G>A

SNV
Germline

Chr20:63433904

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589972

NM_001165963.4(SCN1A):c.4889T>C (p.Val1630Ala)

SNV
Germline

Chr2:165992386

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590623

NM_001165963.4(SCN1A):c.4039A>T (p.Ile1347Phe)

SNV
Germline

Chr2:166002717

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590764

NM_172107.4(KCNQ2):c.685A>G (p.Ser229Gly)

SNV
Germline

Chr20:63444664

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589906

NM_001165963.4(SCN1A):c.5134A>G (p.Asn1712Asp)

SNV
Germline

Chr2:165992141

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589839

NM_001165963.4(SCN1A):c.5023C>T (p.Leu1675Phe)

SNV
Germline

Chr2:165992252

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589893

NM_001165963.4(SCN1A):c.4970G>T (p.Arg1657Leu)

SNV
Germline

Chr2:165992305

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590716

NM_001165963.4(SCN1A):c.4310T>A (p.Ile1437Lys)

SNV
Germline

Chr2:165999751

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590877

NM_021072.4(HCN1):c.159C>A (p.His53Gln)

SNV
Germline

Chr5:45695935

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 24

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003588085 RCV004723367

NM_001165963.4(SCN1A):c.2434A>C (p.Thr812Pro)

SNV
Germline

Chr2:166039578

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588276

NM_021072.4(HCN1):c.1160C>G (p.Ala387Gly)

SNV
Germline

Chr5:45396562

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588277

NM_172107.4(KCNQ2):c.1301+2T>G

SNV
Germline

Chr20:63419617

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588124

NM_001330260.2(SCN8A):c.1101G>C (p.Met367Ile)

SNV
Germline

Chr12:51702881

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589236

NM_001165963.4(SCN1A):c.5053G>A (p.Ala1685Thr)

SNV
Germline

Chr2:165992222

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588427

NM_001165963.4(SCN1A):c.914T>C (p.Ile305Thr)

SNV
Germline

Chr2:166051769

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003588439 RCV004369262

NM_001165963.4(SCN1A):c.5503C>T (p.Leu1835Phe)

SNV
Germline

Chr2:165991772

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588452

NM_001165963.4(SCN1A):c.5309T>A (p.Ile1770Asn)

SNV
Germline

Chr2:165991966

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588453

NM_001165963.4(SCN1A):c.4507G>A (p.Glu1503Lys)

SNV
Germline

Chr2:165996087

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588456

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

SNV
Germline

Chr2:166002588

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588457

NM_001165963.4(SCN1A):c.3633T>A (p.Cys1211Ter)

SNV
Germline

Chr2:166013816

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588458

NM_001165963.4(SCN1A):c.3075T>G (p.Tyr1025Ter)

SNV
Germline

Chr2:166036402

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588461

NM_001165963.4(SCN1A):c.2864C>T (p.Thr955Ile)

SNV
Germline

Chr2:166037858

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588462

NM_001165963.4(SCN1A):c.2525T>G (p.Leu842Arg)

SNV
Germline

Chr2:166039487

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588465

NM_001165963.4(SCN1A):c.1198A>G (p.Met400Val)

SNV
Germline

Chr2:166046949

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588466

NM_001165963.4(SCN1A):c.1187G>A (p.Gly396Glu)

SNV
Germline

Chr2:166046960

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588467

NM_001165963.4(SCN1A):c.1150T>C (p.Trp384Arg)

SNV
Germline

Chr2:166047647

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588468

NM_001165963.4(SCN1A):c.1019C>T (p.Ser340Phe)

SNV
Germline

Chr2:166048895

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588469

NM_001165963.4(SCN1A):c.799C>T (p.Gln267Ter)

SNV
Germline

Chr2:166051884

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588470

NM_001165963.4(SCN1A):c.694+1G>A

SNV
Germline

Chr2:166052851

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588471

NM_001165963.4(SCN1A):c.524C>T (p.Ala175Val)

SNV
Germline

Chr2:166054716

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588472

NM_001165963.4(SCN1A):c.278T>C (p.Leu93Ser)

SNV
Germline

Chr2:166058675

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588473

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

SNV
Germline

Chr2:166073373

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588474

NM_001165963.4(SCN1A):c.226C>A (p.Pro76Thr)

SNV
Germline

Chr2:166073396

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003588475

NM_001165963.4(SCN1A):c.2847T>A (p.Cys949Ter)

SNV
Germline

Chr2:166037875

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589222

NM_001165963.4(SCN1A):c.4490A>G (p.Asp1497Gly)

SNV
Germline

Chr2:165996104

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589285

NM_001130438.3(SPTAN1):c.5425A>T (p.Lys1809Ter)

SNV
Germline

Chr9:128617707

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589352

NM_172107.4(KCNQ2):c.1667A>G (p.Lys556Arg)

SNV
Germline

Chr20:63413546

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589441

NM_001165963.4(SCN1A):c.4309A>G (p.Ile1437Val)

SNV
Germline

Chr2:165999752

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590134

NM_001165963.4(SCN1A):c.1422T>G (p.Ser474Arg)

SNV
Germline

Chr2:166045283

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590136

NM_001165963.4(SCN1A):c.5322C>A (p.Phe1774Leu)

SNV
Germline

Chr2:165991953

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590238

NM_001165963.4(SCN1A):c.1130G>C (p.Arg377Pro)

SNV
Germline

Chr2:166047667

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589416

NM_172107.4(KCNQ2):c.733C>G (p.Leu245Val)

SNV
Germline

Chr20:63442489

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590167

NM_172107.4(KCNQ2):c.1302-1G>T

SNV
Germline

Chr20:63415127

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590155

NM_001165963.4(SCN1A):c.3695G>T (p.Ser1232Ile)

SNV
Germline

Chr2:166013754

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590156

NM_001165963.4(SCN1A):c.3721T>G (p.Tyr1241Asp)

SNV
Germline

Chr2:166012267

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590212

NM_172107.4(KCNQ2):c.796G>C (p.Asp266His)

SNV
Germline

Chr20:63442426

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003589384

NM_001165963.4(SCN1A):c.5266T>C (p.Cys1756Arg)

SNV
Germline

Chr2:165992009

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590027

NM_001165963.4(SCN1A):c.4427A>T (p.Asn1476Ile)

SNV
Germline

Chr2:165998087

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590086

NM_001330260.2(SCN8A):c.4382G>T (p.Gly1461Val)

SNV
Germline

Chr12:51789381

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003590200 RCV004812498

NM_172107.4(KCNQ2):c.1023+2T>C

SNV
Germline

Chr20:63438623

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590405

NM_001165963.4(SCN1A):c.4996T>A (p.Ser1666Thr)

SNV
Germline

Chr2:165992279

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590996

NM_172107.4(KCNQ2):c.1302-1G>A

SNV
Germline

Chr20:63415127

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003591056

NM_006030.4(CACNA2D2):c.2637+1G>C

SNV
Germline

Chr3:50366577

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003591096

NM_020988.3(GNAO1):c.631A>C (p.Lys211Gln)

SNV
Germline

Chr16:56336768

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590213

NM_001165963.4(SCN1A):c.264+1G>A

SNV
Germline

Chr2:166073357

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590216

NM_001165963.4(SCN1A):c.4540T>A (p.Leu1514Ile)

SNV
Germline

Chr2:165996054

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590338

NM_020988.3(GNAO1):c.593+1G>A

SNV
Germline

Chr16:56334858

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590367

NM_001165963.4(SCN1A):c.2859A>G (p.Ile953Met)

SNV
Germline

Chr2:166037863

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590368

NM_001330260.2(SCN8A):c.276+1G>A

SNV
Germline

Chr12:51663094

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590416

NM_020988.3(GNAO1):c.818A>G (p.Asp273Gly)

SNV
Germline

Chr16:56351478

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003590471

NM_001165963.4(SCN1A):c.650C>T (p.Thr217Ile)

SNV
Germline

Chr2:166052896

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003753352

NM_001165963.4(SCN1A):c.4039A>G (p.Ile1347Val)

SNV
Germline

Chr2:166002717

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003753307

NM_001330260.2(SCN8A):c.2791C>T (p.Arg931Ter)

SNV
Germline

Chr12:51765917

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003753364

NM_172107.4(KCNQ2):c.1771C>T (p.Gln591Ter)

SNV
Germline

Chr20:63408529

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003753368

NM_172107.4(KCNQ2):c.1735C>G (p.Leu579Val)

SNV
Germline

Chr20:63413478

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003753369

NM_001165963.4(SCN1A):c.1175T>G (p.Leu392Ter)

SNV
Germline

Chr2:166046972

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003753358

NM_020988.3(GNAO1):c.768C>T (p.Asn256=)

SNV
Germline

Chr16:56351428

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003753900 RCV004765923

NM_001165963.4(SCN1A):c.4915C>T (p.Arg1639Cys)

SNV
Germline

Chr2:165992360

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003753913

NM_001165963.4(SCN1A):c.3643G>A (p.Val1215Ile)

SNV
Germline

Chr2:166013806

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754186

NM_172107.4(KCNQ2):c.796G>A (p.Asp266Asn)

SNV
Germline

Chr20:63442426

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754078

NM_001330260.2(SCN8A):c.5633C>G (p.Pro1878Arg)

SNV
Germline

Chr12:51807119

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754106

NM_001165963.4(SCN1A):c.1120T>C (p.Ser374Pro)

SNV
Germline

Chr2:166047677

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754132

NM_001165963.4(SCN1A):c.4081T>G (p.Phe1361Val)

SNV
Germline

Chr2:166002675

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754169

NM_001165963.4(SCN1A):c.3852G>C (p.Trp1284Cys)

SNV
Germline

Chr2:166012136

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754210

NM_172107.4(KCNQ2):c.514+2T>C

SNV
Germline

Chr20:63445236

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754101

NM_001165963.4(SCN1A):c.5344A>G (p.Ile1782Val)

SNV
Germline

Chr2:165991931

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754165

NM_001165963.4(SCN1A):c.1663-1G>A

SNV
Germline

Chr2:166044050

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754065

NM_001330260.2(SCN8A):c.2617G>C (p.Gly873Arg)

SNV
Germline

Chr12:51765743

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754147

NM_172107.4(KCNQ2):c.998G>T (p.Arg333Leu)

SNV
Germline

Chr20:63438650

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754245

NM_172107.4(KCNQ2):c.817-2A>G

SNV
Germline

Chr20:63439710

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754274

NM_001032221.6(STXBP1):c.903-2A>G

SNV
Germline

Chr9:127669896

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754277

NM_001330260.2(SCN8A):c.2534C>G (p.Ser845Cys)

SNV
Germline

Chr12:51762666

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754291

NM_001165963.4(SCN1A):c.4969C>A (p.Arg1657Ser)

SNV
Germline

Chr2:165992306

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754319

NM_020988.3(GNAO1):c.133G>T (p.Gly45Ter)

SNV
Germline

Chr16:56192588

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754336

NM_001032221.6(STXBP1):c.1250-2A>G

SNV
Germline

Chr9:127676642

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754355

NM_001165963.4(SCN1A):c.4338+5G>T

SNV
Germline

Chr2:165999718

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754384

NM_001165963.4(SCN1A):c.1081G>T (p.Gly361Cys)

SNV
Germline

Chr2:166047716

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754413

NM_001165963.4(SCN1A):c.3075T>A (p.Tyr1025Ter)

SNV
Germline

Chr2:166036402

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754231

NM_001165963.4(SCN1A):c.5317T>C (p.Ser1773Pro)

SNV
Germline

Chr2:165991958

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754236

NM_006030.4(CACNA2D2):c.1905C>G (p.Tyr635Ter)

SNV
Germline

Chr3:50375646

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754271

NM_172107.4(KCNQ2):c.874C>T (p.Leu292Phe)

SNV
Germline

Chr20:63439651

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754306

NM_172107.4(KCNQ2):c.914T>C (p.Phe305Ser)

SNV
Germline

Chr20:63439611

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754261

NM_001165963.4(SCN1A):c.3663G>T (p.Glu1221Asp)

SNV
Germline

Chr2:166013786

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754305

NM_001165963.4(SCN1A):c.626T>G (p.Leu209Arg)

SNV
Germline

Chr2:166052920

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754372

NM_001165963.4(SCN1A):c.3937A>T (p.Lys1313Ter)

SNV
Germline

Chr2:166009784

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754369

NM_001165963.4(SCN1A):c.2903G>C (p.Cys968Ser)

SNV
Germline

Chr2:166037819

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754370

NM_001330260.2(SCN8A):c.4935G>T (p.Met1645Ile)

SNV
Germline

Chr12:51806421

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754390

NM_001330260.2(SCN8A):c.1222G>T (p.Ala408Ser)

SNV
Germline

Chr12:51705504

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754435

NM_001165963.4(SCN1A):c.1234T>C (p.Phe412Leu)

SNV
Germline

Chr2:166046913

Likely pathogenic

Epilepsy
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004696556 RCV003754483

NM_001165963.4(SCN1A):c.5554A>G (p.Met1852Val)

SNV
Germline

Chr2:165991721

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754571

NM_006279.5(ST3GAL3):c.167-2A>T

SNV
Germline

Chr1:43814889

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754424

NM_021072.4(HCN1):c.881C>T (p.Ala294Val)

SNV
Germline

Chr5:45461976

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754477

NM_001165963.4(SCN1A):c.2807A>G (p.Asp936Gly)

SNV
Germline

Chr2:166037915

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754481

NM_139318.5(KCNH5):c.979C>A (p.Arg327Ser)

SNV
Germline

Chr14:62950523

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754501

NM_001165963.4(SCN1A):c.4264T>C (p.Tyr1422His)

SNV
Germline

Chr2:166002492

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754541

NM_001330260.2(SCN8A):c.4948G>C (p.Ala1650Pro)

SNV
Germline

Chr12:51806434

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754549

NM_001165963.4(SCN1A):c.4255G>C (p.Gly1419Arg)

SNV
Germline

Chr2:166002501

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754473

NM_001165963.4(SCN1A):c.4963G>T (p.Gly1655Trp)

SNV
Germline

Chr2:165992312

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754513

NM_172107.4(KCNQ2):c.1520C>A (p.Ser507Ter)

SNV
Germline

Chr20:63414908

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003754590 RCV004999993

NM_001330260.2(SCN8A):c.4438T>G (p.Phe1480Val)

SNV
Germline

Chr12:51790416

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754440

NM_001032221.6(STXBP1):c.749A>G (p.Gln250Arg)

SNV
Germline

Chr9:127666251

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754485

NM_001165963.4(SCN1A):c.4476+2T>C

SNV
Germline

Chr2:165998036

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754487

NM_001165963.4(SCN1A):c.3971T>C (p.Leu1324Pro)

SNV
Germline

Chr2:166009750

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754558

NM_001165963.4(SCN1A):c.4196T>C (p.Leu1399Pro)

SNV
Germline

Chr2:166002560

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754560

NM_001330260.2(SCN8A):c.4445C>A (p.Thr1482Asn)

SNV
Germline

Chr12:51790423

Pathogenic/Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts
Undetermined early-onset epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003754740 RCV004799688

NM_001130438.3(SPTAN1):c.6959+1G>T

SNV
Germline

Chr9:128632324

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754767

NM_001032221.6(STXBP1):c.1457T>C (p.Met486Thr)

SNV
Germline

Chr9:127678528

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754814

NM_001330260.2(SCN8A):c.4880T>C (p.Ile1627Thr)

SNV
Germline

Chr12:51806366

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754756

NM_001165963.4(SCN1A):c.518T>A (p.Ile173Asn)

SNV
Germline

Chr2:166054722

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754810

NM_172107.4(KCNQ2):c.652T>C (p.Trp218Arg)

SNV
Germline

Chr20:63444697

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754611

NM_001165963.4(SCN1A):c.4634T>C (p.Ile1545Thr)

SNV
Germline

Chr2:165994364

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754655

NM_172107.4(KCNQ2):c.1048A>T (p.Asn350Tyr)

SNV
Germline

Chr20:63433879

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754664

NM_001165963.4(SCN1A):c.4907G>T (p.Arg1636Leu)

SNV
Germline

Chr2:165992368

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754687

NM_001165963.4(SCN1A):c.1177C>G (p.Arg393Gly)

SNV
Germline

Chr2:166046970

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754688

NM_001330260.2(SCN8A):c.2674G>T (p.Val892Leu)

SNV
Germline

Chr12:51765800

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 13
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003989856 RCV003754726

NM_172107.4(KCNQ2):c.1689C>A (p.Asp563Glu)

SNV
Germline

Chr20:63413524

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754801

NM_001032221.6(STXBP1):c.1461+1G>A

SNV
Germline

Chr9:127678533

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754802

NM_001165963.4(SCN1A):c.313A>T (p.Thr105Ser)

SNV
Germline

Chr2:166058640

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754682

NM_001165963.4(SCN1A):c.4474A>T (p.Lys1492Ter)

SNV
Germline

Chr2:165998040

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754771

NM_001165963.4(SCN1A):c.2176G>T (p.Glu726Ter)

SNV
Germline

Chr2:166042292

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754832

NM_006030.4(CACNA2D2):c.1387C>T (p.Gln463Ter)

SNV
Germline

Chr3:50378286

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003752675

NM_001165963.4(SCN1A):c.362C>G (p.Ala121Gly)

SNV
Germline

Chr2:166058591

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754839

NM_172107.4(KCNQ2):c.682C>G (p.His228Asp)

SNV
Germline

Chr20:63444667

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003754842

NM_172107.4(KCNQ2):c.1A>T (p.Met1Leu)

SNV
Germline

Chr20:63472463

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003752636

NM_001032221.6(STXBP1):c.223T>C (p.Tyr75His)

SNV
Germline

Chr9:127658428

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003752638

NM_001165963.4(SCN1A):c.2590-1G>T

SNV
Germline

Chr2:166038133

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003752690

NM_001165963.4(SCN1A):c.5261G>C (p.Gly1754Ala)

SNV
Germline

Chr2:165992014

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003752628

NM_001165963.4(SCN1A):c.5435G>T (p.Trp1812Leu)

SNV
Germline

Chr2:165991840

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003752662

NM_001165963.4(SCN1A):c.3352G>T (p.Ala1118Ser)

SNV
Germline

Chr2:166036125

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003752602

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

SNV
Germline

Chr2:165998037

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003752604

NM_001330260.2(SCN8A):c.4377C>G (p.Phe1459Leu)

SNV
Germline

Chr12:51789376

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003752686

NM_172107.4(KCNQ2):c.296+2T>C

SNV
Germline

Chr20:63472166

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003752872

NM_001165963.4(SCN1A):c.2524C>T (p.Leu842Phe)

SNV
Germline

Chr2:166039488

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003752791

NM_001130438.3(SPTAN1):c.725G>C (p.Gly242Ala)

SNV
Germline

Chr9:128576896

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003752930 RCV003885366

NM_001130438.3(SPTAN1):c.1765G>C (p.Val589Leu)

SNV
Germline

Chr9:128582808

Conflicting classifications of pathogenicity

Inborn genetic diseases
Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004673951 RCV003752957

NM_001165963.4(SCN1A):c.1244T>C (p.Ile415Thr)

SNV
Germline

Chr2:166046903

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003753670

NM_001032221.6(STXBP1):c.88-1G>A

SNV
Germline

Chr9:127653714

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003753671

NM_001330260.2(SCN8A):c.4398C>G (p.Asn1466Lys)

SNV
Germline

Chr12:51789397

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003753672

NM_001165963.4(SCN1A):c.5513C>T (p.Pro1838Leu)

SNV
Germline

Chr2:165991762

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003753707

NM_001165963.4(SCN1A):c.5321T>C (p.Phe1774Ser)

SNV
Germline

Chr2:165991954

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003753708

NM_001165963.4(SCN1A):c.1244T>A (p.Ile415Lys)

SNV
Germline

Chr2:166046903

Pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003753710

NM_001165963.4(SCN1A):c.237C>G (p.Asp79Glu)

SNV
Germline

Chr2:166073385

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003753834

NM_021072.4(HCN1):c.1793A>G (p.Asn598Ser)

SNV
Germline

Chr5:45262801

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003753729 RCV004981004

NM_021072.4(HCN1):c.2246A>C (p.Gln749Pro)

SNV
Germline

Chr5:45262348

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Generalized epilepsy with febrile seizures plus, type 10
Developmental and epileptic encephalopathy, 24

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003823128 RCV004723500

NM_001165963.4(SCN1A):c.3692G>A (p.Ser1231Asn)

SNV
Germline

Chr2:166013757

Likely pathogenic

Early infantile epileptic encephalopathy with suppression bursts

Criteria Provided
Single Submitter

1 SubmittersRCV003835535

NM_001165963.4(SCN1A):c.4060T>G (p.Cys1354Gly)

SNV
Germline

Chr2:166002696