ClinVar for Gene (Select 27063) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 512

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361906	NM_014391.3(ANKRD1):c.485T>G (p.Leu162Trp)	ANKRD1 (L162W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347425	NM_014391.3(ANKRD1):c.599_600del (p.Asp200fs)	ANKRD1 (D200fs)	Deletion (frameshift variant)	ANKRD1-related disorder	GUncertain significance
Select item 3296227	NM_014391.3(ANKRD1):c.238A>G (p.Lys80Glu)	ANKRD1 (K80E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3296225	NM_014391.3(ANKRD1):c.260T>A (p.Leu87His)	ANKRD1 (L87H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3296220	NM_014391.3(ANKRD1):c.573C>A (p.His191Gln)	ANKRD1 (H191Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3296215	NM_014391.3(ANKRD1):c.950C>T (p.Ala317Val)	ANKRD1 (A317V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3296213	NM_014391.3(ANKRD1):c.740C>A (p.Ala247Asp)	ANKRD1 (A247D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3296212	NM_014391.3(ANKRD1):c.122A>C (p.Lys41Thr)	ANKRD1 (K41T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3296211	NM_014391.3(ANKRD1):c.567C>G (p.Ala189=)	ANKRD1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3296203	NM_014391.3(ANKRD1):c.861G>A (p.Thr287=)	ANKRD1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3226314	NM_014391.3(ANKRD1):c.953C>T (p.Thr318Ile)	ANKRD1 (T318I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226313	NM_014391.3(ANKRD1):c.829G>C (p.Asp277His)	ANKRD1 (D277H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226312	NM_014391.3(ANKRD1):c.825C>A (p.Gly275=)	ANKRD1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3226311	NM_014391.3(ANKRD1):c.813G>C (p.Leu271=)	ANKRD1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3226310	NM_014391.3(ANKRD1):c.800T>C (p.Met267Thr)	ANKRD1 (M267T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226309	NM_014391.3(ANKRD1):c.735C>T (p.Leu245=)	ANKRD1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3226307	NM_014391.3(ANKRD1):c.621T>A (p.Asn207Lys)	ANKRD1 (N207K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226306	NM_014391.3(ANKRD1):c.508G>A (p.Glu170Lys)	ANKRD1 (E170K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226305	NM_014391.3(ANKRD1):c.404T>C (p.Val135Ala)	ANKRD1 (V135A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226304	NM_014391.3(ANKRD1):c.344T>C (p.Ile115Thr)	ANKRD1 (I115T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226303	NM_014391.3(ANKRD1):c.148G>T (p.Ala50Ser)	ANKRD1 (A50S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3122042	NM_014391.3(ANKRD1):c.847T>G (p.Cys283Gly)	ANKRD1 (C283G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3122032	NM_014391.3(ANKRD1):c.349G>A (p.Glu117Lys)	ANKRD1 (E117K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3069085	NM_014391.3(ANKRD1):c.454-16A>T	ANKRD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3063146	GRCh37/hg19 10q23.31-23.32(chr10:89950990-92959893)x3	ACTA2, ANKRD1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 3058827	NM_014391.3(ANKRD1):c.346-10_346-9del	ANKRD1	Deletion (intron variant)	ANKRD1-related disorder	GLikely benign
Select item 3054308	NM_014391.3(ANKRD1):c.726G>A (p.Glu242=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related disorder	GLikely benign
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 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2637637	NM_014391.3(ANKRD1):c.346-19_346-15delinsA	ANKRD1	Indel (intron variant)	not specified	GLikely benign
Select item 2631081	NM_014391.3(ANKRD1):c.532dup (p.Gln178fs)	ANKRD1 (Q178fs)	Duplication (frameshift variant)	ANKRD1-related disorder	GUncertain significance
Select item 2626155	NM_014391.3(ANKRD1):c.178T>A (p.Trp60Arg)	ANKRD1 (W60R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 2626153	NM_014391.3(ANKRD1):c.643del (p.Arg215fs)	ANKRD1 (R215fs)	Deletion (frameshift variant)	Cardiovascular phenotype	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 2577102	NM_014391.3(ANKRD1):c.346-19_346-15delinsATA	ANKRD1	Indel (intron variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2564306	NM_014391.3(ANKRD1):c.584G>C (p.Arg195Pro)	ANKRD1 (R195P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2560629	NM_014391.3(ANKRD1):c.337G>T (p.Glu113Ter)	ANKRD1 (E113*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 2449562	NM_014391.3(ANKRD1):c.74C>A (p.Pro25His)	ANKRD1 (P25H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449561	NM_014391.3(ANKRD1):c.582C>G (p.Ser194Arg)	ANKRD1 (S194R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449560	NM_014391.3(ANKRD1):c.554T>C (p.Leu185Pro)	ANKRD1 (L185P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2420928	NM_014391.3(ANKRD1):c.346-12_346-11insTATATATATATATATATATATATATATATATATATA	ANKRD1	Microsatellite (intron variant)	ANKRD1-related dilated cardiomyopathy	GUncertain significance
Select item 2286858	NM_014391.3(ANKRD1):c.382G>T (p.Ala128Ser)	ANKRD1 (A128S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2266485	NM_014391.3(ANKRD1):c.203C>G (p.Ala68Gly)	ANKRD1 (A68G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2251767	NM_014391.3(ANKRD1):c.335C>G (p.Pro112Arg)	ANKRD1 (P112R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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

<< First< Prev

Page of 6