ClinVar for MedGen (Select 468513) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3015194	NM_014391.3(ANKRD1):c.113C>T (p.Thr38Ile)	ANKRD1 (T38I)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 3015065	NM_014391.3(ANKRD1):c.552+6T>C	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2998212	NM_014391.3(ANKRD1):c.164T>C (p.Leu55Pro)	ANKRD1 (L55P)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2976152	NM_014391.3(ANKRD1):c.27+11T>C	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2970053	NM_014391.3(ANKRD1):c.172C>T (p.Gln58Ter)	ANKRD1 (Q58*)	Single nucleotide variant (nonsense)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2969172	NM_014391.3(ANKRD1):c.345+6G>A	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2916456	NM_014391.3(ANKRD1):c.553-4A>G	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2904616	NM_014391.3(ANKRD1):c.454-18A>G	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2904346	NM_014391.3(ANKRD1):c.864G>A (p.Pro288=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy +1 more	GLikely benign
Select item 2901775	NM_014391.3(ANKRD1):c.552+13C>A	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2891744	NM_014391.3(ANKRD1):c.507G>A (p.Val169=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2890799	NM_014391.3(ANKRD1):c.766T>C (p.Leu256=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2889782	NM_014391.3(ANKRD1):c.431A>C (p.Asn144Thr)	ANKRD1 (N144T)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2887338	NM_014391.3(ANKRD1):c.240G>T (p.Lys80Asn)	ANKRD1 (K80N)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2882807	NM_014391.3(ANKRD1):c.453+13C>T	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2864884	NM_014391.3(ANKRD1):c.346-12_346-11insTATATATGTATA	ANKRD1	Microsatellite (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2861146	NM_014391.3(ANKRD1):c.446G>T (p.Cys149Phe)	ANKRD1 (C149F)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2849399	NM_014391.3(ANKRD1):c.98A>G (p.Tyr33Cys)	ANKRD1 (Y33C)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2839371	NM_014391.3(ANKRD1):c.656T>C (p.Leu219Pro)	ANKRD1 (L219P)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2838968	NM_014391.3(ANKRD1):c.149C>A (p.Ala50Asp)	ANKRD1 (A50D)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2828359	NM_014391.3(ANKRD1):c.264A>G (p.Glu88=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2825730	NM_014391.3(ANKRD1):c.580A>G (p.Ser194Gly)	ANKRD1 (S194G)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2817942	NM_014391.3(ANKRD1):c.765G>C (p.Pro255=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2808674	NM_014391.3(ANKRD1):c.373C>T (p.Leu125=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2801521	NM_014391.3(ANKRD1):c.795_797del (p.Tyr265_Lys266delinsTer)	ANKRD1	Deletion (nonsense)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2797403	NM_014391.3(ANKRD1):c.825C>T (p.Gly275=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2787654	NM_014391.3(ANKRD1):c.641C>A (p.Ala214Asp)	ANKRD1 (A214D)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2777857	NM_014391.3(ANKRD1):c.155del (p.Pro52fs)	ANKRD1 (P52fs)	Deletion (frameshift variant)	ANKRD1-related dilated cardiomyopathy +1 more	GUncertain significance
Select item 2777297	NM_014391.3(ANKRD1):c.631A>T (p.Lys211Ter)	ANKRD1 (K211*)	Single nucleotide variant (nonsense)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2763676	NM_014391.3(ANKRD1):c.775G>A (p.Ala259Thr)	ANKRD1 (A259T)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2747579	NM_014391.3(ANKRD1):c.712C>T (p.Leu238Phe)	ANKRD1 (L238F)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2747436	NM_014391.3(ANKRD1):c.652-18C>G	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2742043	NM_014391.3(ANKRD1):c.346-20_346-19insTATATATT	ANKRD1	Insertion (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2738486	NM_014391.3(ANKRD1):c.235T>A (p.Ser79Thr)	ANKRD1 (S79T)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2726962	NM_014391.3(ANKRD1):c.701G>C (p.Cys234Ser)	ANKRD1 (C234S)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2723404	NM_014391.3(ANKRD1):c.358G>C (p.Asp120His)	ANKRD1 (D120H)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2721935	NM_014391.3(ANKRD1):c.196C>T (p.Arg66Ter)	ANKRD1 (R66*)	Single nucleotide variant (nonsense)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2718135	NM_014391.3(ANKRD1):c.652-14T>G	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2705293	NM_014391.3(ANKRD1):c.700T>A (p.Cys234Ser)	ANKRD1 (C234S)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2702028	NM_014391.3(ANKRD1):c.345+19G>A	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2699891	NM_014391.3(ANKRD1):c.778G>A (p.Val260Met)	ANKRD1 (V260M)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2693815	NM_014391.3(ANKRD1):c.453+17G>T	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2420928	NM_014391.3(ANKRD1):c.346-12_346-11insTATATATATATATATATATATATATATATATATATA	ANKRD1	Microsatellite (intron variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2198960	NM_014391.3(ANKRD1):c.389A>T (p.Glu130Val)	ANKRD1 (E130V)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2191960	NM_014391.3(ANKRD1):c.346-12_346-11insTATATATATATATATATATATATATATATATATA	ANKRD1	Microsatellite (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2187092	NM_014391.3(ANKRD1):c.454-3T>C	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2167985	NM_014391.3(ANKRD1):c.346-3T>C	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2165897	NM_014391.3(ANKRD1):c.59C>A (p.Ala20Glu)	ANKRD1 (A20E)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2162584	NM_014391.3(ANKRD1):c.792C>T (p.Arg264=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2151843	NM_014391.3(ANKRD1):c.564A>G (p.Thr188=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2149865	NM_014391.3(ANKRD1):c.28G>A (p.Val10Ile)	ANKRD1 (V10I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2146801	NM_014391.3(ANKRD1):c.538G>A (p.Glu180Lys)	ANKRD1 (E180K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2144432	NM_014391.3(ANKRD1):c.345+18G>T	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2144418	NM_014391.3(ANKRD1):c.346-20_346-19insTATATATATT	ANKRD1	Insertion (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2144229	NM_014391.3(ANKRD1):c.615G>T (p.Leu205Phe)	ANKRD1 (L205F)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2143677	NM_014391.3(ANKRD1):c.27+19T>C	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2124845	NM_014391.3(ANKRD1):c.478G>T (p.Ala160Ser)	ANKRD1 (A160S)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2122394	NM_014391.3(ANKRD1):c.13A>C (p.Lys5Gln)	ANKRD1 (K5Q)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2119749	NM_014391.3(ANKRD1):c.571C>A (p.His191Asn)	ANKRD1 (H191N)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2118409	NM_014391.3(ANKRD1):c.27+8A>T	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2105935	NM_014391.3(ANKRD1):c.909C>G (p.Phe303Leu)	ANKRD1 (F303L)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2103135	NM_014391.3(ANKRD1):c.724G>A (p.Glu242Lys)	ANKRD1 (E242K)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2088163	NM_014391.3(ANKRD1):c.27+13C>T	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2085705	NM_014391.3(ANKRD1):c.346-17_346-12del	ANKRD1	Deletion (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2078417	NM_014391.3(ANKRD1):c.860C>A (p.Thr287Lys)	ANKRD1 (T287K)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2077307	NM_014391.3(ANKRD1):c.453+8T>C	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2066252	NM_014391.3(ANKRD1):c.454-7C>T	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2049787	NM_014391.3(ANKRD1):c.272T>C (p.Ile91Thr)	ANKRD1 (I91T)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2021016	NM_014391.3(ANKRD1):c.27+9G>A	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2017774	NM_014391.3(ANKRD1):c.513G>A (p.Lys171=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2006015	NM_014391.3(ANKRD1):c.567C>T (p.Ala189=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 2004514	NM_014391.3(ANKRD1):c.553-8C>T	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 1998550	NM_014391.3(ANKRD1):c.811C>A (p.Leu271Met)	ANKRD1 (L271M)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 1979223	NM_014391.3(ANKRD1):c.328C>A (p.Pro110Thr)	ANKRD1 (P110T)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 1976862	NM_014391.3(ANKRD1):c.364C>T (p.Pro122Ser)	ANKRD1 (P122S)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 1938564	NM_014391.3(ANKRD1):c.113del (p.Thr38fs)	ANKRD1 (T38fs)	Deletion (frameshift variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 1923714	NM_014391.3(ANKRD1):c.849+2dup	ANKRD1	Duplication (splice donor variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 1921044	NM_014391.3(ANKRD1):c.453+2T>C	ANKRD1	Single nucleotide variant (splice donor variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 1765014	NM_014391.3(ANKRD1):c.889A>G (p.Asn297Asp)	ANKRD1 (N297D)	Single nucleotide variant (missense variant)	ANKRD1-related disorder +2 more	GUncertain significance
Select item 1764602	NM_014391.3(ANKRD1):c.876G>A (p.Val292=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy +1 more	GLikely benign
Select item 1761348	NM_014391.3(ANKRD1):c.794A>G (p.Tyr265Cys)	ANKRD1 (Y265C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1759290	NM_014391.3(ANKRD1):c.751-4C>G	ANKRD1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1759196	NM_014391.3(ANKRD1):c.749G>C (p.Arg250Thr)	ANKRD1 (R250T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1758349	NM_014391.3(ANKRD1):c.732C>T (p.Asp244=)	ANKRD1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1758210	NM_014391.3(ANKRD1):c.72T>C (p.Leu24=)	ANKRD1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1756994	NM_014391.3(ANKRD1):c.706G>A (p.Glu236Lys)	ANKRD1 (E236K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1756832	NM_014391.3(ANKRD1):c.703G>A (p.Ala235Thr)	ANKRD1 (A235T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1750005	NM_014391.3(ANKRD1):c.583C>T (p.Arg195Cys)	ANKRD1 (R195C)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy +1 more	GUncertain significance
Select item 1748165	NM_014391.3(ANKRD1):c.553-6_553-1dup	ANKRD1	Duplication (splice acceptor variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1746337	NM_014391.3(ANKRD1):c.524C>G (p.Ala175Gly)	ANKRD1 (A175G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1742658	NM_014391.3(ANKRD1):c.471T>G (p.Leu157=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy +1 more	GLikely benign
Select item 1741951	NM_014391.3(ANKRD1):c.461G>A (p.Arg154Gln)	ANKRD1 (R154Q)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy +1 more	GUncertain significance
Select item 1730045	NM_014391.3(ANKRD1):c.330A>C (p.Pro110=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy +1 more	GLikely benign
Select item 1720076	NM_014391.3(ANKRD1):c.442G>A (p.Val148Ile)	ANKRD1 (V148I)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy +1 more	GUncertain significance
Select item 1718948	NM_014391.3(ANKRD1):c.8T>C (p.Val3Ala)	ANKRD1 (V3A)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 1715051	NM_014391.3(ANKRD1):c.791G>A (p.Arg264His)	ANKRD1 (R264H)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 1672939	NM_014391.3(ANKRD1):c.831T>C (p.Asp277=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 1670042	NM_014391.3(ANKRD1):c.453+17G>A	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 1669751	NM_014391.3(ANKRD1):c.652-14T>C	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 1668139	NM_014391.3(ANKRD1):c.346-12_346-11insTATATATATATATATA	ANKRD1	Microsatellite (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign

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