ClinVar for MedGen (Select 348994) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585586	NM_001037.5(SCN1B):c.289G>C (p.Gly97Arg)	SCN1B (G64R +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1	GUncertain significance
Select item 2441923	NM_001037.5(SCN1B):c.634A>T (p.Thr212Ser)	SCN1B (T179S +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1	GUncertain significance
Select item 1677376	NM_001037.5(SCN1B):c.584A>C (p.Glu195Ala)	SCN1B (E162A +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +4 more	GUncertain significance
Select item 1410718	NM_001037.5(SCN1B):c.560C>A (p.Ala187Asp)	SCN1B (A154D +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +5 more	GUncertain significance
Select item 1213780	NM_001037.5(SCN1B):c.*8C>T	SCN1B	Single nucleotide variant (3 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1	GUncertain significance
Select item 975994	NM_001037.5(SCN1B):c.448+124G>A	SCN1B (R191Q)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 1 +1 more	GUncertain significance
Select item 915838	NM_001165963.4(SCN1A):c.2867T>C (p.Met956Thr)	SCN1A (M927T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 891821	NM_001037.5(SCN1B):c.*202C>T	SCN1B	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 5 +1 more	GBenign/Likely benign
Select item 891820	NM_001037.5(SCN1B):c.*102A>T	SCN1B	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 5 +1 more	GBenign/Likely benign
Select item 891819	NM_001037.5(SCN1B):c.*86A>C	SCN1B	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 5 +2 more	GBenign
Select item 891612	NM_001037.5(SCN1B):c.*553C>T	SCN1B	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 891611	NM_001037.5(SCN1B):c.*534C>T	SCN1B	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 5 +1 more	GBenign/Likely benign
Select item 891610	NM_001037.5(SCN1B):c.*527T>C	SCN1B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 891557	NM_001037.5(SCN1B):c.*50C>T	SCN1B	Single nucleotide variant (3 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +1 more	GUncertain significance
Select item 891556	NM_001037.5(SCN1B):c.*42T>C	SCN1B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 891555	NM_001037.5(SCN1B):c.*6-11C>G	SCN1B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 890066	NM_001037.5(SCN1B):c.*486C>T	SCN1B	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 890065	NM_001037.5(SCN1B):c.*464C>G	SCN1B	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 890064	NM_001037.5(SCN1B):c.*454C>A	SCN1B	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 5 +1 more	GBenign/Likely benign
Select item 890063	NM_001037.5(SCN1B):c.*447A>G	SCN1B	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 5 +1 more	GBenign/Likely benign
Select item 890000	NM_001037.5(SCN1B):c.636G>A (p.Thr212=)	SCN1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 889934	NM_001037.5(SCN1B):c.-72G>A	SCN1B	Single nucleotide variant (5 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +1 more	GUncertain significance
Select item 889377	NM_001037.5(SCN1B):c.*401G>A	SCN1B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 889376	NM_001037.5(SCN1B):c.*378G>A	SCN1B	Single nucleotide variant (3 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +3 more	GUncertain significance
Select item 889375	NM_001037.5(SCN1B):c.*377C>T	SCN1B	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 889374	NM_001037.5(SCN1B):c.*305C>T	SCN1B	Single nucleotide variant (3 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +3 more	GUncertain significance
Select item 889314	NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln)	SCN1B (R63Q +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 889254	NM_001037.5(SCN1B):c.-123A>T	SCN1B	Single nucleotide variant (5 prime UTR variant)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 864391	NM_001037.5(SCN1B):c.388G>A (p.Glu130Lys)	SCN1B (E97K +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 852686	NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys)	SCN1B (E84K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +4 more	GUncertain significance
Select item 816882	NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys)	SCN1B (R56C +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 813749	NM_001037.5(SCN1B):c.40+2T>G	SCN1B	Single nucleotide variant (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 1	GUncertain significance
Select item 694617	NM_001037.5(SCN1B):c.449-2A>G	SCN1B	Single nucleotide variant (splice acceptor variant)	Brugada syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 638433	NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His)	SCN1A (D674H)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 619998	NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)	SCN1B (S116L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +5 more	GUncertain significance
Select item 596636	NM_001037.5(SCN1B):c.*76G>T	SCN1B	Single nucleotide variant (3 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +3 more	GBenign
Select item 582475	NM_001037.5(SCN1B):c.397G>A (p.Glu133Lys)	SCN1B (E133K +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1 +1 more	GUncertain significance
Select item 565664	NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn)	SCN1B (T53N +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +3 more	GUncertain significance
Select item 537730	NM_001037.5(SCN1B):c.415G>A (p.Val139Ile)	SCN1B (V139I +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +5 more	GUncertain significance
Select item 516623	NM_001037.5(SCN1B):c.-31G>A	SCN1B	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 506318	NM_001037.5(SCN1B):c.396C>T (p.Tyr132=)	SCN1B	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 470182	NM_001037.5(SCN1B):c.448+192C>T	SCN1B (R214W)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 1 +4 more	GUncertain significance
Select item 450936	NM_001037.5(SCN1B):c.448+103C>T	SCN1B (P184L)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5 +4 more	GUncertain significance
Select item 436652	NM_001037.5(SCN1B):c.133C>T (p.Arg45Cys)	SCN1B (R45C +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 406503	NM_001037.5(SCN1B):c.448+123C>T	SCN1B (R191W)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5 +4 more	GUncertain significance
Select item 375686	NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys)	SCN1B (R125C +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 328834	NM_001037.5(SCN1B):c.150C>T (p.Asn50=)	SCN1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 328833	NM_001037.5(SCN1B):c.-27G>C	SCN1B	Single nucleotide variant (5 prime UTR variant)	Brugada syndrome 5 +2 more	GBenign
Select item 328832	NM_001037.5(SCN1B):c.-88A>C	SCN1B	Single nucleotide variant (5 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +3 more	GUncertain significance
Select item 328831	NM_001037.5(SCN1B):c.-93G>C	SCN1B	Single nucleotide variant (5 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +1 more	GUncertain significance
Select item 328830	NM_001037.5(SCN1B):c.-95C>T	SCN1B	Single nucleotide variant (5 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +2 more	GBenign/Likely benign
Select item 328829	NM_001037.5(SCN1B):c.-132C>G	SCN1B	Single nucleotide variant (5 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +1 more	GUncertain significance
Select item 257220	NM_001037.5(SCN1B):c.591-14C>A	SCN1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 1 +5 more	GBenign/Likely benign
Select item 257219	NM_001037.5(SCN1B):c.5+7C>T	SCN1B	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 190881	NM_001037.5(SCN1B):c.374G>A (p.Arg125His)	SCN1B (R125H +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +5 more	GUncertain significance
Select item 190880	NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala)	SCN1B (T28A)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 190874	NM_001037.5(SCN1B):c.590C>T (p.Ala197Val)	SCN1B (A197V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 190870	NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro)	SCN1B (L13P)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 13 +6 more	GUncertain significance
Select item 190869	NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)	SCN1B (G10S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 190860	NM_001037.5(SCN1B):c.266G>A (p.Arg89His)	SCN1B (R89H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 190859	NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys)	SCN1B (R85C +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 190857	NM_001037.5(SCN1B):c.134G>A (p.Arg45His)	SCN1B (R45H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 190853	NM_001037.5(SCN1B):c.492T>C (p.Tyr164=)	SCN1B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 190850	NM_001037.5(SCN1B):c.448+321G>A	SCN1B (G257R)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5 +6 more	GBenign/Likely benign
Select item 190847	NM_001037.5(SCN1B):c.448+193G>A	SCN1B (R214Q)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +6 more	GConflicting classifications of pathogenicity
Select item 180508	NM_001037.5(SCN1B):c.412G>A (p.Val138Ile)	SCN1B (V138I +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1 +5 more	GBenign/Likely benign
Select item 139002	NM_001037.5(SCN1B):c.-9C>A	SCN1B	Single nucleotide variant (5 prime UTR variant)	Brugada syndrome 5 +3 more	GBenign/Likely benign
Select item 138995	NM_001037.5(SCN1B):c.351C>T (p.Gly117=)	SCN1B	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 138993	NM_001037.5(SCN1B):c.300C>T (p.Asp100=)	SCN1B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 138992	NM_001037.5(SCN1B):c.267C>T (p.Arg89=)	SCN1B	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 138990	NM_001037.5(SCN1B):c.207+14G>A	SCN1B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 130210	NM_001037.5(SCN1B):c.501T>C (p.Ile167=)	SCN1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 1 +4 more	GBenign
Select item 93481	NM_001037.5(SCN1B):c.40+15G>T	SCN1B	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 68666	NM_001165963.4(SCN1A):c.5596G>T (p.Asp1866Tyr)	LOC102724058, SCN1A (D1855Y +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 1 +1 more	Gnot provided
Select item 68665	NM_001165963.4(SCN1A):c.5569G>T (p.Val1857Leu)	LOC102724058, SCN1A (V1846L +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 1	Gnot provided
Select item 68664	NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr)	LOC102724058, SCN1A (M1841T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 68660	NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)	LOC102724058, SCN1A (E1784K +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GConflicting classifications of pathogenicity
Select item 68653	NM_001165963.4(SCN1A):c.5225A>G (p.Asp1742Gly)	LOC102724058, SCN1A (D1731G +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 1	Gnot provided
Select item 68648	NM_001165963.4(SCN1A):c.5054C>T (p.Ala1685Val)	LOC102724058, SCN1A (A1674V +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 68642	NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys)	LOC102724058, SCN1A (R1646C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 68628	NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile)	LOC102724058, SCN1A (V1355I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 68625	NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)	LOC102724058, SCN1A (L1298F +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +2 more	GConflicting classifications of pathogenicity
Select item 68592	NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys)	SCN1A, SCN1A-AS1 (R848C +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic
Select item 68590	NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys)	SCN1A (Y779C +4 more)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 68586	NM_001165963.4(SCN1A):c.1162T>C (p.Tyr388His)	SCN1A (Y388H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 68582	NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr)	SCN1A (R27T)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 68562	NM_001165963.4(SCN1A):c.5060T>C (p.Phe1687Ser)	LOC102724058, SCN1A (F1676S +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 1	Gnot provided
Select item 68514	NM_001165963.4(SCN1A):c.220T>C (p.Ser74Pro)	SCN1A (S74P)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 1	Gnot provided
Select item 68502	NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln)	SCN1A (R377Q)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2 +3 more	GPathogenic/Likely pathogenic
Select item 60768	NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn)	SCN1B (D153N +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +6 more	GUncertain significance
Select item 60767	NM_001037.5(SCN1B):c.254G>A (p.Arg85His)	SCN1B (R85H +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +5 more	GPathogenic/Likely pathogenic
Select item 12892	NM_001165963.4(SCN1A):c.4283T>C (p.Val1428Ala)	LOC102724058, SCN1A (V1428A +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 12891	NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr)	LOC102724058, SCN1A (K1270T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 12887	NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg)	LOC102724058, SCN1A (W1204R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 12886	NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met)	LOC102724058, SCN1A (I1656M +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 12885	NM_001165963.4(SCN1A):c.4057G>C (p.Val1353Leu)	LOC102724058, SCN1A (V1353L +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 12884	NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val)	SCN1A (D188V)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 12883	NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)	SCN1A (T875M +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GPathogenic/Likely pathogenic
Select item 9253	NM_001037.5(SCN1B):c.208-2A>C	SCN1B	Single nucleotide variant (splice acceptor variant)	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic

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