ClinVar for Gene (Select 70) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383773	NM_005159.5(ACTC1):c.322A>C (p.Thr108Pro)	ACTC1, GJD2-DT (T108P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3382680	NM_005159.5(ACTC1):c.766C>T (p.Arg256Cys)	ACTC1, GJD2-DT (R109C +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GLikely pathogenic
Select item 3381364	NM_005159.5(ACTC1):c.1105_1110del (p.Pro369_Ser370del)	ACTC1, GJD2-DT	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3373581	NM_005159.5(ACTC1):c.170G>A (p.Gly57Asp)	ACTC1, GJD2-DT (G12D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371658	NM_005159.5(ACTC1):c.157G>T (p.Asp53Tyr)	ACTC1, GJD2-DT (D53Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367796	NM_005159.5(ACTC1):c.25G>A (p.Ala9Thr)	ACTC1, GJD2-DT (A9T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364889	NM_005159.5(ACTC1):c.817T>A (p.Ser273Thr)	ACTC1, GJD2-DT (S126T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364826	NM_005159.5(ACTC1):c.795G>T (p.Gln265His)	GJD2-DT, ACTC1 (Q118H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364608	NM_005159.5(ACTC1):c.889G>C (p.Ala297Pro)	ACTC1, GJD2-DT (A150P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3346868	NM_005159.5(ACTC1):c.40A>C (p.Asn14His)	ACTC1, GJD2-DT (N14H)	Single nucleotide variant (missense variant)	ACTC1-related disorder	GUncertain significance
Select item 3263746	NM_005159.5(ACTC1):c.482T>A (p.Val161Glu)	ACTC1, GJD2-DT (V14E +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3263703	NM_005159.5(ACTC1):c.319C>T (p.Leu107Phe)	ACTC1, GJD2-DT (L107F +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3263694	NM_005159.5(ACTC1):c.318_319delinsTT (p.Leu107Phe)	ACTC1, GJD2-DT (L62F +1 more)	Indel (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3263683	NM_005159.5(ACTC1):c.318G>T (p.Leu106=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3257557	NM_005159.5(ACTC1):c.394C>T (p.Pro132Ser)	ACTC1, GJD2-DT (P132S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252322	NM_005159.5(ACTC1):c.259A>G (p.Ile87Val)	ACTC1, GJD2-DT (I42V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3224603	NM_005159.5(ACTC1):c.808+4A>G	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224602	NM_005159.5(ACTC1):c.582C>G (p.Ile194Met)	ACTC1, GJD2-DT (I149M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224601	NM_005159.5(ACTC1):c.455-3C>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224600	NM_005159.5(ACTC1):c.178G>T (p.Ala60Ser)	ACTC1, GJD2-DT (A15S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3224599	NM_005159.5(ACTC1):c.130-2A>T	ACTC1, GJD2-DT	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224598	NM_005159.5(ACTC1):c.1108T>C (p.Ser370Pro)	ACTC1, GJD2-DT (S223P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224597	NM_005159.5(ACTC1):c.1103G>A (p.Gly368Asp)	ACTC1, GJD2-DT (G221D +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3075659	NM_005159.5(ACTC1):c.78T>A (p.Asp26Glu)	ACTC1, GJD2-DT (D26E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075658	NM_005159.5(ACTC1):c.198C>A (p.Ile66=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075657	NM_005159.5(ACTC1):c.330C>T (p.Ala110=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075656	NM_005159.5(ACTC1):c.444C>G (p.Gly148=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075654	NM_005159.5(ACTC1):c.592C>T (p.Arg198Cys)	ACTC1, GJD2-DT (R153C +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075653	NM_005159.5(ACTC1):c.714G>A (p.Leu238=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075652	NM_005159.5(ACTC1):c.816A>G (p.Glu272=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074667	NM_005159.5(ACTC1):c.614C>G (p.Thr205Ser)	ACTC1, GJD2-DT (T160S +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074269	NM_005159.5(ACTC1):c.531C>A (p.Ile177=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074105	NM_005159.5(ACTC1):c.679A>G (p.Asn227Asp)	ACTC1, GJD2-DT (N182D +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3073669	NM_005159.5(ACTC1):c.306G>A (p.Glu102=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3073459	NM_005159.5(ACTC1):c.1070T>G (p.Met357Arg)	ACTC1, GJD2-DT (M210R +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3073171	NM_005159.5(ACTC1):c.-5C>T	ACTC1, GJD2-DT	Single nucleotide variant (5 prime UTR variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3073073	NM_005159.5(ACTC1):c.809-1G>C	ACTC1, GJD2-DT	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3072769	NM_005159.5(ACTC1):c.-13A>G	ACTC1, GJD2-DT	Single nucleotide variant (5 prime UTR variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3072463	NM_005159.5(ACTC1):c.*5C>T	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3071564	NM_005159.5(ACTC1):c.20C>A (p.Thr7Asn)	ACTC1, GJD2-DT (T7N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3071498	NM_005159.5(ACTC1):c.35G>A (p.Cys12Tyr)	ACTC1, GJD2-DT (C12Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3071494	NM_005159.5(ACTC1):c.1100C>T (p.Ala367Val)	ACTC1, GJD2-DT (A220V +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3071212	NM_005159.5(ACTC1):c.1023C>A (p.Val341=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3071053	NM_005159.5(ACTC1):c.-16del	ACTC1, GJD2-DT	Deletion (5 prime UTR variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3070405	NM_005159.5(ACTC1):c.617-7del	ACTC1, GJD2-DT	Deletion (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3070404	NM_005159.5(ACTC1):c.617-11del	ACTC1, GJD2-DT	Deletion (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3070082	NM_005159.5(ACTC1):c.991-10C>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3069578	NM_005159.5(ACTC1):c.1035C>G (p.Gly345=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3069473	NM_005159.5(ACTC1):c.455-7C>G	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3068407	NM_005159.5(ACTC1):c.686T>C (p.Met229Thr)	ACTC1, GJD2-DT (M184T +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11	GUncertain significance
Select item 3068334	NM_005159.5(ACTC1):c.243G>A (p.Trp81Ter)	ACTC1, GJD2-DT (W36* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypertrophic cardiomyopathy 11	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063372	GRCh37/hg19 15q14(chr15:34990168-39236311)x1	ACTC1, AQR +10 more	Copy number loss	not specified	GPathogenic
Select item 3052572	NM_005159.5(ACTC1):c.603C>G (p.Ser201=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	ACTC1-related disorder	GLikely benign
Select item 2954320	NM_005159.5(ACTC1):c.1079G>A (p.Ser360Asn)	ACTC1, GJD2-DT (S315N +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2953358	NM_005159.5(ACTC1):c.854T>G (p.Met285Arg)	ACTC1, GJD2-DT (M285R +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2953352	NM_005159.5(ACTC1):c.541G>A (p.Asp181Asn)	ACTC1, GJD2-DT (D181N +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +3 more	GUncertain significance
Select item 2952972	NM_005159.5(ACTC1):c.808+8G>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2952424	NM_005159.5(ACTC1):c.1063C>T (p.Gln355Ter)	ACTC1, GJD2-DT (Q310* +2 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2952343	NM_005159.5(ACTC1):c.40A>G (p.Asn14Asp)	ACTC1, GJD2-DT (N14D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2951194	NM_005159.5(ACTC1):c.129+10C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2951057	NM_005159.5(ACTC1):c.1034G>C (p.Gly345Ala)	ACTC1, GJD2-DT (G300A +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2950970	NM_005159.5(ACTC1):c.1A>G (p.Met1Val)	ACTC1, GJD2-DT (M1V)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2950652	NM_005159.5(ACTC1):c.421G>C (p.Val141Leu)	ACTC1, GJD2-DT (V141L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2950438	NM_005159.5(ACTC1):c.639C>A (p.Asp213Glu)	ACTC1, GJD2-DT (D213E +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2950285	NM_005159.5(ACTC1):c.808+18G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2950148	NM_005159.5(ACTC1):c.951G>T (p.Lys317Asn)	ACTC1, GJD2-DT (K170N +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely pathogenic
Select item 2949091	NM_005159.5(ACTC1):c.220G>C (p.Glu74Gln)	ACTC1, GJD2-DT (E29Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2948203	NM_005159.5(ACTC1):c.848G>C (p.Ser283Thr)	ACTC1, GJD2-DT (S136T +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2947441	NM_005159.5(ACTC1):c.286C>T (p.Leu96Phe)	ACTC1, GJD2-DT (L96F +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2947021	NM_005159.5(ACTC1):c.31G>C (p.Val11Leu)	ACTC1, GJD2-DT (V11L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2946707	NM_005159.5(ACTC1):c.852C>T (p.Ile284=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +2 more	GLikely benign
Select item 2945429	NM_005159.5(ACTC1):c.789C>T (p.Leu263=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2945285	NM_005159.5(ACTC1):c.578A>G (p.Lys193Arg)	ACTC1, GJD2-DT (K193R +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2944752	NM_005159.5(ACTC1):c.758G>C (p.Gly253Ala)	ACTC1, GJD2-DT (G253A +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2944561	NM_005159.5(ACTC1):c.244G>A (p.Asp82Asn)	ACTC1, GJD2-DT (D37N +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2944475	NM_005159.5(ACTC1):c.991-10_991-8del	ACTC1, GJD2-DT	Deletion (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2944417	NM_005159.5(ACTC1):c.813G>T (p.Met271Ile)	ACTC1, GJD2-DT (M124I +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2944157	NM_005159.5(ACTC1):c.24C>T (p.Thr8=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2943996	NM_005159.5(ACTC1):c.43G>C (p.Gly15Arg)	ACTC1, GJD2-DT (G15R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2942411	NM_005159.5(ACTC1):c.337A>T (p.Asn113Tyr)	ACTC1, GJD2-DT (N68Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2942164	NM_005159.5(ACTC1):c.778C>G (p.Pro260Ala)	ACTC1, GJD2-DT (P113A +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2942146	NM_005159.5(ACTC1):c.337A>C (p.Asn113His)	ACTC1, GJD2-DT (N68H +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2941506	NM_005159.5(ACTC1):c.296C>T (p.Ala99Val)	ACTC1, GJD2-DT (A99V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2941291	NM_005159.5(ACTC1):c.616+7G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2940781	NM_005159.5(ACTC1):c.905C>A (p.Ser302Tyr)	ACTC1, GJD2-DT (S257Y +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2938392	NM_005159.5(ACTC1):c.45C>T (p.Gly15=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2937902	NM_005159.5(ACTC1):c.267C>T (p.His89=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2936878	NM_005159.5(ACTC1):c.314C>T (p.Thr105Ile)	ACTC1, GJD2-DT (T60I +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2936345	NM_005159.5(ACTC1):c.522C>T (p.Pro174=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 2936128	NM_005159.5(ACTC1):c.616+7G>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2935933	NM_005159.5(ACTC1):c.108C>G (p.Ile36Met)	ACTC1, GJD2-DT (I36M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +3 more	GUncertain significance
Select item 2935885	NM_005159.5(ACTC1):c.733C>T (p.Pro245Ser)	ACTC1, GJD2-DT (P200S +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2935622	NM_005159.5(ACTC1):c.809-58TG[32]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2935506	NM_005159.5(ACTC1):c.455-10C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +3 more	GLikely benign
Select item 2934988	NM_005159.5(ACTC1):c.962C>T (p.Ala321Val)	ACTC1, GJD2-DT (A174V +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +3 more	GUncertain significance
Select item 2934757	NM_005159.5(ACTC1):c.1133A>T (p.Ter378Leu)	ACTC1, GJD2-DT	Single nucleotide variant (stop lost)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2933729	NM_005159.5(ACTC1):c.454+18G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 2933321	NM_005159.5(ACTC1):c.648G>A (p.Glu216=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign

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