27063[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 878866	NM_014391.3(ANKRD1):c.*642G>A	ANKRD1	Single nucleotide variant (3 prime UTR variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 880081	NM_014391.3(ANKRD1):c.*634G>A	ANKRD1	Single nucleotide variant (3 prime UTR variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 301592	NM_014391.3(ANKRD1):c.*627A>G	ANKRD1	Single nucleotide variant (3 prime UTR variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 301593	NM_014391.3(ANKRD1):c.*607C>A	ANKRD1	Single nucleotide variant (3 prime UTR variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 880082	NM_014391.3(ANKRD1):c.*588A>C	ANKRD1	Single nucleotide variant (3 prime UTR variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 301596	NM_014391.3(ANKRD1):c.570_574dup	ANKRD1	Duplication (3 prime UTR variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 301594	NM_014391.3(ANKRD1):c.571_574dup	ANKRD1	Duplication (3 prime UTR variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 301595	NM_014391.3(ANKRD1):c.566_574del	ANKRD1	Deletion (3 prime UTR variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 301597	NM_014391.3(ANKRD1):c.544_548del	ANKRD1	Deletion (3 prime UTR variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 880083	NM_014391.3(ANKRD1):c.*489G>A	ANKRD1	Single nucleotide variant (3 prime UTR variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 301598	NM_014391.3(ANKRD1):c.*371T>G	ANKRD1	Single nucleotide variant (3 prime UTR variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 880084	NM_014391.3(ANKRD1):c.*366G>A	ANKRD1	Single nucleotide variant (3 prime UTR variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 301599	NM_014391.3(ANKRD1):c.*343A>G	ANKRD1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 301600	NM_014391.3(ANKRD1):c.*319A>G	ANKRD1	Single nucleotide variant (3 prime UTR variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 301601	NM_014391.3(ANKRD1):c.*286C>T	ANKRD1	Single nucleotide variant (3 prime UTR variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 301602	NM_014391.3(ANKRD1):c.*203TTTA[2]	ANKRD1	Microsatellite (3 prime UTR variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 301603	NM_014391.3(ANKRD1):c.*59A>G	ANKRD1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 877285	NM_014391.3(ANKRD1):c.*41T>G	ANKRD1	Single nucleotide variant (3 prime UTR variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 264067	NM_014391.3(ANKRD1):c.949G>C (p.Ala317Pro)	ANKRD1 (A317P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 963760	NM_014391.3(ANKRD1):c.947T>C (p.Ile316Thr)	ANKRD1 (I316T)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy +1 more	GUncertain significance
Select item 571909	NM_014391.3(ANKRD1):c.944G>T (p.Arg315Leu)	ANKRD1 (R315L)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 518679	NM_014391.3(ANKRD1):c.944G>C (p.Arg315Pro)	ANKRD1 (R315P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 201669	NM_014391.3(ANKRD1):c.944G>A (p.Arg315His)	ANKRD1 (R315H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 877286	NM_014391.3(ANKRD1):c.943C>T (p.Arg315Cys)	ANKRD1 (R315C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 765864	NM_014391.3(ANKRD1):c.939C>T (p.Thr313=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 1766615	NM_014391.3(ANKRD1):c.933C>A (p.Tyr311Ter)	ANKRD1 (Y311*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 1438498	NM_014391.3(ANKRD1):c.929C>T (p.Ser310Phe)	ANKRD1 (S310F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2626152	NM_014391.3(ANKRD1):c.927C>T (p.Asn309=)	ANKRD1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1449421	NM_014391.3(ANKRD1):c.927C>A (p.Asn309Lys)	ANKRD1 (N309K)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2626154	NM_014391.3(ANKRD1):c.924G>A (p.Glu308=)	ANKRD1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 850889	NM_014391.3(ANKRD1):c.916C>T (p.Leu306Phe)	ANKRD1 (L306F)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
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 301604	NM_014391.3(ANKRD1):c.909C>T (p.Phe303=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1765745	NM_014391.3(ANKRD1):c.908T>G (p.Phe303Cys)	ANKRD1 (F303C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1385847	NM_014391.3(ANKRD1):c.907T>C (p.Phe303Leu)	ANKRD1 (F303L)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 543934	NM_014391.3(ANKRD1):c.905T>C (p.Ile302Thr)	ANKRD1 (I302T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 965570	NM_014391.3(ANKRD1):c.904A>G (p.Ile302Val)	ANKRD1 (I302V)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 758767	NM_014391.3(ANKRD1):c.897C>T (p.Thr299=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy +1 more	GLikely benign
Select item 222508	NM_014391.3(ANKRD1):c.896C>A (p.Thr299Asn)	ANKRD1 (T299N)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy +1 more	GUncertain significance
Select item 1765014	NM_014391.3(ANKRD1):c.889A>G (p.Asn297Asp)	ANKRD1 (N297D)	Single nucleotide variant (missense variant)	ANKRD1-related condition +2 more	GUncertain significance
Select item 201668	NM_014391.3(ANKRD1):c.881A>G (p.His294Arg)	ANKRD1 (H294R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1764602	NM_014391.3(ANKRD1):c.876G>A (p.Val292=)	ANKRD1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 477613	NM_014391.3(ANKRD1):c.868G>A (p.Asp290Asn)	ANKRD1 (D290N)	Single nucleotide variant (missense 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	GLikely benign
Select item 1411520	NM_014391.3(ANKRD1):c.863C>T (p.Pro288Leu)	ANKRD1 (P288L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 201667	NM_014391.3(ANKRD1):c.860C>T (p.Thr287Met)	ANKRD1 (T287M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 859878	NM_014391.3(ANKRD1):c.851C>G (p.Ala284Gly)	ANKRD1 (A284G)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 1446795	NM_014391.3(ANKRD1):c.850G>A (p.Ala284Thr)	ANKRD1 (A284T)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 385260	NM_014391.3(ANKRD1):c.850-7T>G	ANKRD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1193614	NM_014391.3(ANKRD1):c.850-114T>C	ANKRD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194599	NM_014391.3(ANKRD1):c.850-287A>G	ANKRD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 968925	NM_014391.3(ANKRD1):c.849+6T>C	ANKRD1	Single nucleotide variant (intron 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 477612	NM_014391.3(ANKRD1):c.849+1G>C	ANKRD1	Single nucleotide variant (splice donor variant)	ANKRD1-related dilated cardiomyopathy +1 more	GUncertain significance
Select item 1046972	NM_014391.3(ANKRD1):c.839T>A (p.Ile280Asn)	ANKRD1 (I280N)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 162746	NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val)	ANKRD1 (I280V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 45639	NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)	ANKRD1 (A276V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
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 191602	NM_014391.3(ANKRD1):c.821A>G (p.Tyr274Cys)	ANKRD1 (Y274C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 543939	NM_014391.3(ANKRD1):c.820T>G (p.Tyr274Asp)	ANKRD1 (Y274D)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 180276	NM_014391.3(ANKRD1):c.820T>C (p.Tyr274His)	ANKRD1 (Y274H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 198856	NM_014391.3(ANKRD1):c.818T>C (p.Met273Thr)	ANKRD1 (M273T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 1762031	NM_014391.3(ANKRD1):c.810C>T (p.Leu270=)	ANKRD1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 520516	NM_014391.3(ANKRD1):c.806G>A (p.Arg269Gln)	ANKRD1 (R269Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction +2 more	GUncertain significance
Select item 45638	NM_014391.3(ANKRD1):c.805C>T (p.Arg269Ter)	ANKRD1 (R269*)	Single nucleotide variant (nonsense)	not specified +2 more	GUncertain significance
Select item 1761327	NM_014391.3(ANKRD1):c.794_800dup (p.Met267delinsIleTer)	ANKRD1	Duplication (nonsense +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 878324	NM_014391.3(ANKRD1):c.798G>C (p.Lys266Asn)	ANKRD1 (K266N)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2801521	NM_014391.3(ANKRD1):c.795_797del (p.Tyr265_Lys266delinsTer)	ANKRD1	Deletion (nonsense)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 1329301	NM_014391.3(ANKRD1):c.796A>G (p.Lys266Glu)	ANKRD1 (K266E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 201672	NM_014391.3(ANKRD1):c.795dup (p.Lys266Ter)	ANKRD1 (K266*)	Duplication (nonsense)	not provided	GUncertain significance
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 1761346	NM_014391.3(ANKRD1):c.794A>C (p.Tyr265Ser)	ANKRD1 (Y265S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1416626	NM_014391.3(ANKRD1):c.794A>T (p.Tyr265Phe)	ANKRD1 (Y265F)	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 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 191008	NM_014391.3(ANKRD1):c.790C>T (p.Arg264Cys)	ANKRD1 (R264C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1760919	NM_014391.3(ANKRD1):c.785T>C (p.Leu262Pro)	ANKRD1 (L262P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1009573	NM_014391.3(ANKRD1):c.776C>T (p.Ala259Val)	ANKRD1 (A259V)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy +1 more	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 1418198	NM_014391.3(ANKRD1):c.768G>T (p.Leu256Phe)	ANKRD1 (L256F)	Single nucleotide variant (missense 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 2817942	NM_014391.3(ANKRD1):c.765G>C (p.Pro255=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 949364	NM_014391.3(ANKRD1):c.764C>T (p.Pro255Leu)	ANKRD1 (P255L)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 664045	NM_014391.3(ANKRD1):c.764del (p.Pro255fs)	ANKRD1 (P255fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1018393	NM_014391.3(ANKRD1):c.761C>G (p.Thr254Ser)	ANKRD1 (T254S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1380608	NM_014391.3(ANKRD1):c.759T>A (p.Asp253Glu)	ANKRD1 (D253E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1036951	NM_014391.3(ANKRD1):c.751-3T>C	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	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 264542	NM_014391.3(ANKRD1):c.751-4C>A	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1083575	NM_014391.3(ANKRD1):c.751-8T>C	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 377487	NM_014391.3(ANKRD1):c.750+17G>A	ANKRD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1579156	NM_014391.3(ANKRD1):c.750+11G>A	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy	GLikely benign
Select item 1759213	NM_014391.3(ANKRD1):c.750+3_750+6del	ANKRD1	Microsatellite (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 388979	NM_014391.3(ANKRD1):c.750+5G>A	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related condition +2 more	GUncertain significance
Select item 1759214	NM_014391.3(ANKRD1):c.750+4A>G	ANKRD1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1307449	NM_014391.3(ANKRD1):c.750+2T>C	ANKRD1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance

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