ClinVar for MedGen (Select 388117) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237458	NM_001165963.4(SCN1A):c.1549G>A (p.Glu517Lys)	SCN1A (E516K +1 more)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 3237160	NM_001165963.4(SCN1A):c.2819C>A (p.Ser940Tyr)	SCN1A (S126Y +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 3234115	NM_001165963.4(SCN1A):c.722T>A (p.Ile241Asn)	SCN1A (I241N)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 3024319	NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)	SCN1A (Q429K)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GPathogenic
Select item 3024230	NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)	SCN1A (D81N)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GPathogenic
Select item 2664188	NM_001165963.4(SCN1A):c.4122C>G (p.Tyr1374Ter)	LOC102724058, SCN1A (Y1345* +5 more)	Single nucleotide variant (nonsense +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 2627518	NM_001165963.4(SCN1A):c.3776T>A (p.Phe1259Tyr)	LOC102724058, SCN1A (F1230Y +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 2584894	NM_001165963.4(SCN1A):c.1033T>A (p.Cys345Ser)	SCN1A (C345S)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 2584346	NM_001165963.4(SCN1A):c.801del (p.Gln267fs)	SCN1A (Q267fs)	Deletion (frameshift variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 2584345	NM_001165963.4(SCN1A):c.4620_4627del (p.Arg1540fs)	LOC102724058, SCN1A (R1511fs +5 more)	Deletion (frameshift variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 2582736	NM_001165963.4(SCN1A):c.1739G>T (p.Arg580Leu)	SCN1A (R579L +1 more)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 2582435	NM_001165963.4(SCN1A):c.1377+3A>G	SCN1A	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 2580979	NM_001165963.4(SCN1A):c.5455G>T (p.Ala1819Ser)	LOC102724058, SCN1A (A1005S +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GUncertain significance
Select item 2500082	NM_001165963.4(SCN1A):c.5263G>A (p.Asp1755Asn)	LOC102724058, SCN1A (D1726N +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +3 more	GUncertain significance
Select item 2444394	NM_001165963.4(SCN1A):c.1239C>A (p.Tyr413Ter)	SCN1A (Y413*)	Single nucleotide variant (nonsense +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 2431708	NM_001165963.4(SCN1A):c.2048C>A (p.Thr683Lys)	SCN1A (T654K +4 more)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2431634	NM_001165963.4(SCN1A):c.4396T>G (p.Phe1466Val)	LOC102724058, SCN1A (F1437V +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2430247	NM_001165963.4(SCN1A):c.4630G>A (p.Asp1544Asn)	SCN1A, LOC102724058 (D1515N +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 2430163	NM_001165963.4(SCN1A):c.2589+2dup	SCN1A	Duplication (splice donor variant)	Severe myoclonic epilepsy in infancy +3 more	GLikely pathogenic
Select item 2153323	NM_001165963.4(SCN1A):c.5863A>G (p.Ile1955Val)	LOC102724058, SCN1A (I1926V +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2058672	NM_005045.4(RELN):c.8684G>A (p.Arg2895His)	RELN, SLC26A5-AS1 (R2895H)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GUncertain significance
Select item 1878630	NM_001165963.4(SCN1A):c.1432_1435del (p.Arg478fs)	SCN1A (R477fs +1 more)	Microsatellite (frameshift variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1878554	NM_001165963.4(SCN1A):c.5226C>A (p.Asp1742Glu)	LOC102724058, SCN1A (D1713E +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 1878549	NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)	LOC102724058, SCN1A (Y1616* +5 more)	Single nucleotide variant (nonsense +1 more)	Severe myoclonic epilepsy in infancy +2 more	GConflicting classifications of pathogenicity
Select item 1805921	NM_001165963.4(SCN1A):c.4867G>C (p.Glu1623Gln)	LOC102724058, SCN1A (E1594Q +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1805409	NM_001165963.4(SCN1A):c.1210del (p.Val404fs)	SCN1A (V404fs)	Deletion (frameshift variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1805339	NM_001165963.4(SCN1A):c.836A>G (p.Gln279Arg)	SCN1A (Q279R)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 1805334	NM_001165963.4(SCN1A):c.4837A>G (p.Ile1613Val)	LOC102724058, SCN1A (I1584V +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 1804118	NM_001165963.4(SCN1A):c.4778T>A (p.Ile1593Asn)	LOC102724058, SCN1A (I1564N +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1803056	NM_001165963.4(SCN1A):c.2671G>A (p.Gly891Arg)	SCN1A (G77R +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1801480	NM_001165963.4(SCN1A):c.2176+2T>C	SCN1A	Single nucleotide variant (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1801479	NM_001165963.4(SCN1A):c.1064G>A (p.Gly355Asp)	SCN1A (G355D)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1801478	NM_001165963.4(SCN1A):c.3646G>C (p.Glu1216Gln)	LOC102724058, SCN1A (E1187Q +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1801477	NM_001165963.4(SCN1A):c.1130_1131delinsAC (p.Arg377His)	SCN1A (R377H)	Indel (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1709925	NM_001165963.4(SCN1A):c.4493T>C (p.Ile1498Thr)	LOC102724058, SCN1A (I1469T +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1709553	NM_001165963.4(SCN1A):c.6016G>A (p.Ala2006Thr)	LOC102724058, SCN1A (A1192T +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 1709500	NM_001165963.4(SCN1A):c.2879T>A (p.Met960Lys)	SCN1A (M146K +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1709344	NM_001165963.4(SCN1A):c.4475_4476+1del	LOC102724058, SCN1A	Microsatellite (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1709313	NM_001165963.4(SCN1A):c.1685_1688del (p.Ser562fs)	SCN1A (S561fs +1 more)	Deletion (frameshift variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1709255	NM_001165963.4(SCN1A):c.4563G>C (p.Lys1521Asn)	LOC102724058, SCN1A (K1492N +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 1700151	NM_001165963.4(SCN1A):c.3550+2T>G	LOC102724058, SCN1A	Single nucleotide variant (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1700007	NM_001165963.4(SCN1A):c.982del (p.Glu328fs)	SCN1A (E328fs)	Deletion (frameshift variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1686159	NM_001165963.4(SCN1A):c.195T>G (p.Tyr65Ter)	SCN1A (Y65*)	Single nucleotide variant (nonsense +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686158	NM_001165963.4(SCN1A):c.716C>A (p.Ala239Asp)	SCN1A (A239D)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686157	NM_001165963.4(SCN1A):c.929_930del (p.Val309_Phe310insTer)	SCN1A	Deletion (nonsense +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686156	NM_001165963.4(SCN1A):c.1019C>A (p.Ser340Tyr)	SCN1A (S340Y)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686155	NM_001165963.4(SCN1A):c.1048_1051del (p.Met350fs)	SCN1A (M350fs)	Deletion (frameshift variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686154	NM_001165963.4(SCN1A):c.1751_1752dup (p.Gly585fs)	SCN1A (G584fs +1 more)	Microsatellite (frameshift variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686153	NM_001165963.4(SCN1A):c.1969_1975del (p.Pro657fs)	SCN1A (P656fs +1 more)	Deletion (frameshift variant +3 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686152	NM_001165963.4(SCN1A):c.2287del (p.Leu763fs)	SCN1A (L734fs +4 more)	Deletion (frameshift variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686151	NM_001165963.4(SCN1A):c.2475C>A (p.Tyr825Ter)	SCN1A (Y11* +5 more)	Single nucleotide variant (nonsense +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686150	NM_001165963.4(SCN1A):c.2644del (p.Ile882fs)	SCN1A (I68fs +5 more)	Deletion (frameshift variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686149	NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg)	SCN1A (C113R +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1686148	NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg)	SCN1A (M923R +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1686147	NM_001165963.4(SCN1A):c.2951T>C (p.Leu984Pro)	SCN1A (L170P +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686146	NM_001165963.4(SCN1A):c.3383_3390del (p.Asn1128fs)	LOC102724058, SCN1A (N1099fs +5 more)	Deletion (non-coding transcript variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686145	NM_001165963.4(SCN1A):c.3950C>G (p.Thr1317Arg)	LOC102724058, SCN1A (T1288R +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686144	NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp)	LOC102724058, SCN1A (G1342D +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1686143	NM_001165963.4(SCN1A):c.4284+2del	LOC102724058, SCN1A	Deletion (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686142	NM_001165963.4(SCN1A):c.4429del (p.Leu1477fs)	LOC102724058, SCN1A (L1448fs +5 more)	Deletion (frameshift variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686141	NM_001165963.4(SCN1A):c.5005G>A (p.Ala1669Thr)	LOC102724058, SCN1A (A1640T +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686140	NM_001165963.4(SCN1A):c.5177G>C (p.Trp1726Ser)	LOC102724058, SCN1A (W1697S +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686139	NM_001165963.4(SCN1A):c.5318_5324del (p.Ser1773fs)	LOC102724058, SCN1A (S1744fs +5 more)	Deletion (frameshift variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1686138	NM_001165963.4(SCN1A):c.5711del (p.Gln1904fs)	LOC102724058, SCN1A (Q1090fs +5 more)	Deletion (frameshift variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1685434	NM_001165963.4(SCN1A):c.323T>A (p.Leu108Gln)	SCN1A (L108Q)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1685433	NM_001165963.4(SCN1A):c.2589+3A>G	SCN1A	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1685431	NM_001165963.4(SCN1A):c.2948T>G (p.Val983Gly)	SCN1A (V169G +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1679753	NM_001165963.4(SCN1A):c.-142G>A	SCN1A	Single nucleotide variant (splice acceptor variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +3 more	GUncertain significance
Select item 1679126	NM_001165963.4(SCN1A):c.5594T>C (p.Leu1865Pro)	LOC102724058, SCN1A (L1051P +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 1515389	NM_001165963.4(SCN1A):c.926_931del (p.Val309_Phe310del)	SCN1A	Deletion (inframe_deletion +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1492924	NM_001165963.4(SCN1A):c.2415+9A>G	SCN1A	Single nucleotide variant (5 prime UTR variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GLikely benign
Select item 1486863	NM_001165963.4(SCN1A):c.4055T>A (p.Leu1352Gln)	LOC102724058, SCN1A (L1352Q +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1475924	NM_001165963.4(SCN1A):c.5492T>A (p.Phe1831Tyr)	LOC102724058, SCN1A (F1017Y +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1474345	NM_001165963.4(SCN1A):c.2516T>C (p.Ile839Thr)	SCN1A (I828T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1446151	NM_001165963.4(SCN1A):c.473+1G>A	SCN1A	Single nucleotide variant (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GPathogenic
Select item 1418113	NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser)	SCN1A (G271S)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2 +4 more	GPathogenic/Likely pathogenic
Select item 1383663	NM_001165963.4(SCN1A):c.5404G>A (p.Glu1802Lys)	LOC102724058, SCN1A (E1802K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1359475	NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly)	SCN1A (A485G +1 more)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2 +4 more	GConflicting classifications of pathogenicity
Select item 1341523	NM_001165963.4(SCN1A):c.2542G>T (p.Gly848Ter)	SCN1A (G34* +5 more)	Single nucleotide variant (nonsense +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1339098	NM_001165963.4(SCN1A):c.2839G>C (p.Val947Leu)	SCN1A (V133L +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 1339029	NM_001165963.4(SCN1A):c.751A>G (p.Met251Val)	SCN1A (M251V)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 1339028	NM_001165963.4(SCN1A):c.5354T>C (p.Ile1785Thr)	LOC102724058, SCN1A (I1756T +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 1332744	NM_001165963.4(SCN1A):c.4003-1G>C	LOC102724058, SCN1A	Single nucleotide variant (splice acceptor variant)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1325851	NM_001165963.4(SCN1A):c.1465_1480del (p.Ser490fs)	SCN1A (S489fs +1 more)	Deletion (frameshift variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GLikely pathogenic
Select item 1321314	NM_001165963.4(SCN1A):c.4265A>T (p.Tyr1422Phe)	LOC102724058, SCN1A (Y1393F +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1321268	NM_001165963.4(SCN1A):c.807C>A (p.Phe269Leu)	SCN1A (F269L)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1319930	NM_001165963.4(SCN1A):c.3281A>T (p.Lys1094Ile)	LOC102724058, SCN1A (K1065I +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1300152	NM_001165963.4(SCN1A):c.3713A>G (p.Glu1238Gly)	LOC102724058, SCN1A (E1209G +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 1285579	NM_001165963.1:c.(3429+1_3430-1)_(4002+1_4003-1)del	SCN1A	Deletion	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1285509	NM_001165963.4(SCN1A):c.4489G>A (p.Asp1497Asn)	LOC102724058, SCN1A (D1468N +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 1217508	NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile)	LOC102724058, SCN1A (V1268I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1210335	NM_001165963.4(SCN1A):c.4999del (p.Leu1667fs)	LOC102724058, SCN1A (L1638fs +5 more)	Deletion (frameshift variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1180552	NM_001165963.4(SCN1A):c.265del (p.Thr89fs)	SCN1A (T89fs)	Deletion (frameshift variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1174588	NM_001165963.4(SCN1A):c.2164A>C (p.Asn722His)	SCN1A (N693H +4 more)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 1174162	NM_001165963.4(SCN1A):c.5624_5630del (p.Val1875fs)	LOC102724058, SCN1A (V1061fs +5 more)	Deletion (frameshift variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1174161	NM_001165963.4(SCN1A):c.1719C>G (p.Ser573Arg)	SCN1A (S572R +1 more)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GUncertain significance
Select item 1172559	NM_001165963.4(SCN1A):c.2648T>C (p.Ile883Thr)	SCN1A (I69T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1164075	NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu)	SCN1A (A474L +1 more)	Indel (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1074453	NM_001165963.4(SCN1A):c.4847T>C (p.Ile1616Thr)	LOC102724058, SCN1A (I1587T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1066894	NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His)	LOC102724058, SCN1A (Q1109H +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GPathogenic/Likely pathogenic

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