C1858673[trait identifier] AND "Mendelics"[submitter] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68671	NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)	LOC102724058, SCN1A (E1946G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 68574	NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly)	LOC102724058, SCN1A (R1917G +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +7 more	GBenign/Likely benign
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
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 1475924	NM_001165963.4(SCN1A):c.5492T>A (p.Phe1831Tyr)	LOC102724058, SCN1A (F1017Y +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 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 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 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 961360	NM_001165963.4(SCN1A):c.4581+1G>A	LOC102724058, SCN1A	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	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 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 1686144	NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp)	LOC102724058, SCN1A (G1342D +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
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 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 68534	NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)	LOC102724058, SCN1A (E1297D +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +7 more	GConflicting classifications of pathogenicity
Select item 206811	NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)	LOC102724058, SCN1A (W1273R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 206810	NM_001165963.4(SCN1A):c.3824G>A (p.Gly1275Asp)	LOC102724058, SCN1A (G1264D +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 68532	NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)	LOC102724058, SCN1A (E1227D +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +3 more	GConflicting classifications of pathogenicity
Select item 68616	NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)	LOC102724058, SCN1A (T1163S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Epilepsy +11 more	GConflicting classifications of pathogenicity
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 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 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 68608	NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val)	SCN1A (M949V +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 206790	NM_001165963.4(SCN1A):c.2806G>T (p.Asp936Tyr)	SCN1A (D925Y +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GPathogenic
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 1686149	NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg)	SCN1A (C113R +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
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 68594	NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys)	SCN1A (T864K +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 372566	NM_001165963.4(SCN1A):c.2594G>A (p.Arg865Gln)	SCN1A (R854Q +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
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 871911	NM_001165963.4(SCN1A):c.2585G>T (p.Arg862Leu)	SCN1A (R48L +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 93639	NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)	SCN1A (R848H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 68592	NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys)	SCN1A (R848C +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	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 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 190225	NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter)	SCN1A (W727* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	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 68589	NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)	SCN1A (R604H +1 more)	Single nucleotide variant (missense variant +2 more)	Epilepsy +8 more	GBenign/Likely benign
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 68505	NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)	SCN1A (R393C)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +7 more	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 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 206755	NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)	SCN1A (G329V)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 960282	NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter)	SCN1A (W280*)	Single nucleotide variant (nonsense +2 more)	Migraine, familial hemiplegic, 3 +4 more	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 1446151	NM_001165963.4(SCN1A):c.473+1G>A	SCN1A	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 582634	NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr)	SCN1A (H127Y)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
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 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

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Items: 50