ClinVar for Gene (Select 6640) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023919	NM_003098.3(SNTA1):c.440C>T (p.Thr147Ile)	SNTA1 (T147I)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3019539	NM_003098.3(SNTA1):c.1425+15G>A	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3017358	NM_003098.3(SNTA1):c.1040+11G>A	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3013971	NM_003098.3(SNTA1):c.1345C>T (p.Pro449Ser)	SNTA1 (P449S)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2999955	NM_003098.3(SNTA1):c.272G>T (p.Arg91Leu)	LOC130065679, SNTA1 (R91L)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2989446	NM_003098.3(SNTA1):c.1047G>C (p.Val349=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2983528	NM_003098.3(SNTA1):c.47G>C (p.Arg16Pro)	LOC130065680, SNTA1 (R16P)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2977492	NM_003098.3(SNTA1):c.808A>G (p.Thr270Ala)	SNTA1 (T270A)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2977070	NM_003098.3(SNTA1):c.969C>T (p.Leu323=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2975875	NM_003098.3(SNTA1):c.496+13G>A	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2975720	NM_003098.3(SNTA1):c.1164G>A (p.Glu388=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2955772	NM_003098.3(SNTA1):c.414G>T (p.Val138=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2916960	NM_003098.3(SNTA1):c.310+17G>A	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2915537	NM_003098.3(SNTA1):c.496+12C>T	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2913646	NM_003098.3(SNTA1):c.1484C>A (p.Ser495Ter)	SNTA1 (S495* +1 more)	Single nucleotide variant (nonsense +1 more)	Long QT syndrome	GUncertain significance
Select item 2911961	NM_003098.3(SNTA1):c.616C>T (p.Pro206Ser)	SNTA1 (P206S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2905414	NM_003098.3(SNTA1):c.783G>A (p.Ala261=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2897803	NM_003098.3(SNTA1):c.981C>T (p.Leu327=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2895161	NM_003098.3(SNTA1):c.775T>G (p.Ser259Ala)	SNTA1 (S259A)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2890749	NM_003098.3(SNTA1):c.776C>A (p.Ser259Ter)	SNTA1 (S259*)	Single nucleotide variant (nonsense)	Long QT syndrome	GUncertain significance
Select item 2883952	NM_003098.3(SNTA1):c.180G>A (p.Glu60=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2881314	NM_003098.3(SNTA1):c.273dup (p.Lys92fs)	LOC130065679, SNTA1 (K92fs)	Duplication (frameshift variant)	Long QT syndrome	GUncertain significance
Select item 2853928	NM_003098.3(SNTA1):c.1117C>T (p.Arg373Cys)	SNTA1 (R373C)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2831479	NM_003098.3(SNTA1):c.1238-9dup	SNTA1	Duplication (intron variant)	Long QT syndrome	GLikely benign
Select item 2811715	NM_003098.3(SNTA1):c.701+10G>C	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2797889	NM_003098.3(SNTA1):c.979C>G (p.Leu327Val)	SNTA1 (L327V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2765425	NM_003098.3(SNTA1):c.702-13T>C	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2764235	NM_003098.3(SNTA1):c.150T>G (p.Gly50=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2763166	NM_003098.3(SNTA1):c.571C>T (p.Pro191Ser)	SNTA1 (P191S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2758927	NM_003098.3(SNTA1):c.1016G>A (p.Arg339His)	SNTA1 (R339H)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2752085	NM_003098.3(SNTA1):c.702-8G>A	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2738962	NM_003098.3(SNTA1):c.157C>T (p.Pro53Ser)	SNTA1 (P53S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2738895	NM_003098.3(SNTA1):c.794A>G (p.Gln265Arg)	SNTA1 (Q265R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2730541	NM_003098.3(SNTA1):c.1269G>A (p.Leu423=)	SNTA1 (C434Y)	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2704431	NM_003098.3(SNTA1):c.975G>A (p.Leu325=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2697048	NM_003098.3(SNTA1):c.89G>A (p.Arg30Gln)	SNTA1, LOC130065680 (R30Q)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2691707	NM_003098.3(SNTA1):c.256C>T (p.Arg86Cys)	LOC130065679, SNTA1 (R86C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652266	NM_003098.3(SNTA1):c.225dup (p.Gln76fs)	SNTA1 (Q76fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2629505	NM_003098.3(SNTA1):c.62C>T (p.Ser21Leu)	LOC130065680, SNTA1 (S21L)	Single nucleotide variant (missense variant)	SNTA1-related condition	GUncertain significance
Select item 2625064	NM_003098.3(SNTA1):c.1238-1G>T	SNTA1	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625063	NM_003098.3(SNTA1):c.190C>G (p.Leu64Val)	SNTA1 (L64V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625062	NM_003098.3(SNTA1):c.974T>C (p.Leu325Ser)	SNTA1 (L325S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 2625061	NM_003098.3(SNTA1):c.1278C>T (p.His426=)	SNTA1 (T437I)	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2625060	NM_003098.3(SNTA1):c.1361A>G (p.Gln454Arg)	SNTA1 (R465G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2625059	NM_003098.3(SNTA1):c.222C>T (p.Pro74=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2609472	NM_003098.3(SNTA1):c.112G>A (p.Asp38Asn)	LOC130065680, SNTA1 (D38N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562678	NM_003098.3(SNTA1):c.338T>G (p.Leu113Arg)	SNTA1 (L113R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2562677	NM_003098.3(SNTA1):c.938T>C (p.Leu313Pro)	SNTA1 (L313P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2562675	NM_003098.3(SNTA1):c.1419C>T (p.Gly473=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2562674	NM_003098.3(SNTA1):c.614C>T (p.Thr205Ile)	SNTA1 (T205I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2562673	NM_003098.3(SNTA1):c.1018A>G (p.Thr340Ala)	SNTA1 (T340A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2562672	NM_003098.3(SNTA1):c.1450A>G (p.Lys484Glu)	SNTA1 (K484E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2562671	NM_003098.3(SNTA1):c.1426-1G>A	SNTA1	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 2504942	NM_003098.3(SNTA1):c.1517_*2dup (p.Ter506=)	SNTA1	Duplication (no sequence alteration)	not provided +1 more	GLikely benign
Select item 2504433	NM_003098.3(SNTA1):c.1160A>G (p.Gln387Arg)	SNTA1 (Q387R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501312	NM_003098.3(SNTA1):c.1052C>T (p.Ser351Leu)	SNTA1 (S351L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2496759	NM_003098.3(SNTA1):c.933C>T (p.Pro311=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2447607	NM_003098.3(SNTA1):c.768T>C (p.Ser256=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2447606	NM_003098.3(SNTA1):c.267G>T (p.Thr89=)	LOC130065679, SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2447605	NM_003098.3(SNTA1):c.1050C>T (p.His350=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2447604	NM_003098.3(SNTA1):c.1396C>T (p.Leu466=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2436218	NM_003098.3(SNTA1):c.1487C>T (p.Ala496Val)	SNTA1 (A496V)	Single nucleotide variant (missense variant)	Long QT syndrome 12	GUncertain significance
Select item 2428877	NM_003098.3(SNTA1):c.289G>C (p.Gly97Arg)	LOC130065679, SNTA1 (G97R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2424625	NC_000020.10:g.(?_31996313)_(32026852_?)dup	SNTA1	Duplication	Long QT syndrome	GUncertain significance
Select item 2333972	NM_003098.3(SNTA1):c.98T>C (p.Leu33Pro)	LOC130065680, SNTA1 (L33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305060	NM_003098.3(SNTA1):c.1105C>G (p.Arg369Gly)	SNTA1 (R369G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292730	NM_003098.3(SNTA1):c.1193A>T (p.Asp398Val)	SNTA1 (D398V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245829	NM_003098.3(SNTA1):c.1048C>T (p.His350Tyr)	SNTA1 (H350Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238726	NM_003098.3(SNTA1):c.656T>C (p.Met219Thr)	SNTA1 (M219T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193520	NM_003098.3(SNTA1):c.702-3C>T	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 2179883	NM_003098.3(SNTA1):c.77A>G (p.Glu26Gly)	LOC130065680, SNTA1 (E26G)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2164223	NM_003098.3(SNTA1):c.1443G>A (p.Ser481=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2163264	NM_003098.3(SNTA1):c.20C>T (p.Ala7Val)	LOC130065680, SNTA1 (A7V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2160713	NM_003098.3(SNTA1):c.1197C>T (p.Gly399=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2146594	NM_003098.3(SNTA1):c.1122C>T (p.His374=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 2144559	NM_003098.3(SNTA1):c.201C>G (p.Ala67=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 2144381	NM_003098.3(SNTA1):c.989C>T (p.Thr330Ile)	SNTA1 (T330I)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2142642	NM_003098.3(SNTA1):c.124G>T (p.Val42Leu)	LOC130065680, SNTA1 (V42L)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2141670	NM_003098.3(SNTA1):c.250C>T (p.Gln84Ter)	SNTA1 (Q84*)	Single nucleotide variant (nonsense)	Long QT syndrome	GUncertain significance
Select item 2141574	NM_003098.3(SNTA1):c.923G>A (p.Gly308Asp)	SNTA1 (G308D)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2139624	NM_003098.3(SNTA1):c.1123G>A (p.Gly375Ser)	SNTA1 (G375S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2132502	NM_003098.3(SNTA1):c.910-9del	SNTA1	Deletion (intron variant)	Long QT syndrome	GLikely benign
Select item 2110177	NM_003098.3(SNTA1):c.1482G>T (p.Leu494=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2094164	NM_003098.3(SNTA1):c.1338G>A (p.Leu446=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2078745	NM_003098.3(SNTA1):c.220C>T (p.Pro74Ser)	SNTA1 (P74S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2075751	NM_003098.3(SNTA1):c.1109C>A (p.Thr370Lys)	SNTA1 (T370K)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2063052	NM_003098.3(SNTA1):c.1281C>G (p.Ile427Met)	SNTA1 (I427M)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2051090	NM_003098.3(SNTA1):c.496+7A>G	LOC130065678, SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2045987	NM_003098.3(SNTA1):c.313G>A (p.Gly105Ser)	SNTA1 (G105S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2021761	NM_003098.3(SNTA1):c.310+10G>C	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2018987	NM_003098.3(SNTA1):c.798C>T (p.Ala266=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2018914	NM_003098.3(SNTA1):c.702-13T>A	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2011373	NM_003098.3(SNTA1):c.32G>T (p.Gly11Val)	LOC130065680, SNTA1 (G11V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1994305	NM_003098.3(SNTA1):c.756G>A (p.Lys252=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1992204	NM_003098.3(SNTA1):c.781G>A (p.Ala261Thr)	SNTA1 (A261T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1991385	NM_003098.3(SNTA1):c.684C>T (p.Pro228=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1985504	NM_003098.3(SNTA1):c.994G>A (p.Glu332Lys)	SNTA1 (E332K)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1983594	NM_003098.3(SNTA1):c.582C>T (p.Pro194=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1956844	NM_003098.3(SNTA1):c.275A>G (p.Lys92Arg)	LOC130065679, SNTA1 (K92R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1942398	NM_003098.3(SNTA1):c.1041-11C>G	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign

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