"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 133

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 381369	NM_005159.5(ACTC1):c.*5C>G	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 1141190	NM_005159.5(ACTC1):c.1131C>T (p.Phe377=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 920426	NM_005159.5(ACTC1):c.1128C>T (p.Cys376=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 180774	NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr)	GJD2-DT, ACTC1 (I371T)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 2064160	NM_005159.5(ACTC1):c.1107A>G (p.Pro369=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +3 more	GLikely benign
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 377437	NM_005159.5(ACTC1):c.1098G>A (p.Glu366=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +5 more	GLikely benign
Select item 1790532	NM_005159.5(ACTC1):c.1095T>C (p.Asp365=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1171524	NM_005159.5(ACTC1):c.1093G>A (p.Asp365Asn)	ACTC1, GJD2-DT (D365N)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 45171	NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 1393320	NM_005159.5(ACTC1):c.1085A>C (p.Gln362Pro)	ACTC1, GJD2-DT (Q362P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +4 more	GUncertain significance
Select item 513570	NM_005159.5(ACTC1):c.1083G>A (p.Lys361=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	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 315702	NM_005159.5(ACTC1):c.1053G>C (p.Leu351=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 1171045	NM_005159.5(ACTC1):c.1044G>A (p.Leu348=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GLikely benign
Select item 626825	NM_005159.5(ACTC1):c.1038C>T (p.Ser346=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
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 923704	NM_005159.5(ACTC1):c.1035C>T (p.Gly345=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
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 1172066	NM_005159.5(ACTC1):c.994A>G (p.Ile332Val)	ACTC1, GJD2-DT (I332V)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	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 538813	NM_005159.5(ACTC1):c.991-10C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 923443	NM_005159.5(ACTC1):c.991-13T>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Cardiomyopathy +4 more	GLikely benign
Select item 3386818	NM_005159.5(ACTC1):c.991-15G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1272947	NM_005159.5(ACTC1):c.990+6G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 1141917	NM_005159.5(ACTC1):c.942T>C (p.Arg314=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 18323	NM_005159.5(ACTC1):c.941G>A (p.Arg314His)	ACTC1, GJD2-DT (R314H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 487317	NM_005159.5(ACTC1):c.930T>C (p.Gly310=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 45194	NM_005159.5(ACTC1):c.927T>C (p.Pro309=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 45192	NM_005159.5(ACTC1):c.903A>G (p.Leu301=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not specified +6 more	GLikely benign
Select item 3386882	NM_005159.5(ACTC1):c.835A>G (p.Thr279Ala)	GJD2-DT, ACTC1 (T132A +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3386899	NM_005159.5(ACTC1):c.834A>G (p.Glu278=)	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 3073073	NM_005159.5(ACTC1):c.809-1G>C	ACTC1, GJD2-DT	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 705445	NM_005159.5(ACTC1):c.809-8G>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +5 more	GLikely benign
Select item 669963	NM_005159.5(ACTC1):c.809-8G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GLikely benign
Select item 925106	NM_005159.5(ACTC1):c.809-9C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GLikely benign
Select item 1171071	NM_005159.5(ACTC1):c.802T>C (p.Phe268Leu)	GJD2-DT, ACTC1 (F268L)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 45187	NM_005159.5(ACTC1):c.798C>T (p.Pro266=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 1157100	NM_005159.5(ACTC1):c.792C>T (p.Phe264=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 162706	NM_005159.5(ACTC1):c.756T>G (p.Ile252Met)	ACTC1, GJD2-DT (I252M)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GUncertain significance
Select item 3386936	NM_005159.5(ACTC1):c.725A>C (p.Tyr242Ser)	GJD2-DT, ACTC1 (Y197S +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 629731	NM_005159.5(ACTC1):c.717G>A (p.Glu239=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
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 986417	NM_005159.5(ACTC1):c.713T>C (p.Leu238Pro)	ACTC1, GJD2-DT (L238P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 1569142	NM_005159.5(ACTC1):c.699C>T (p.Ala233=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +4 more	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 919733	NM_005159.5(ACTC1):c.652C>T (p.Leu218=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 2774899	NM_005159.5(ACTC1):c.639C>T (p.Asp213=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 919844	NM_005159.5(ACTC1):c.633C>T (p.Val211=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GLikely benign
Select item 520473	NM_005159.5(ACTC1):c.623G>A (p.Arg208His)	ACTC1, GJD2-DT (R208H)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +8 more	GUncertain significance
Select item 3070405	NM_005159.5(ACTC1):c.617-7del	ACTC1, GJD2-DT	Deletion (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 629346	NM_005159.5(ACTC1):c.617-7T>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 3070404	NM_005159.5(ACTC1):c.617-11del	ACTC1, GJD2-DT	Deletion (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
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 921021	NM_005159.5(ACTC1):c.609C>T (p.Val203=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	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 928440	NM_005159.5(ACTC1):c.583C>T (p.Leu195Phe)	ACTC1, GJD2-DT (L195F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 2932456	NM_005159.5(ACTC1):c.556del (p.Asp186fs)	ACTC1, GJD2-DT (D141fs +2 more)	Deletion (frameshift variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 925192	NM_005159.5(ACTC1):c.537T>C (p.Arg179=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GBenign/Likely benign
Select item 315711	NM_005159.5(ACTC1):c.537T>A (p.Arg179=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 517203	NM_005159.5(ACTC1):c.532A>T (p.Met178Leu)	ACTC1, GJD2-DT (M178L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +5 more	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 45182	NM_005159.5(ACTC1):c.516T>C (p.Ala172=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +6 more	GLikely benign
Select item 45181	NM_005159.5(ACTC1):c.513C>T (p.Tyr171=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 1133057	NM_005159.5(ACTC1):c.501C>T (p.Ile167=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 704062	NM_005159.5(ACTC1):c.498C>T (p.Pro166=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GLikely benign
Select item 45179	NM_005159.5(ACTC1):c.465G>A (p.Leu155=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +7 more	GLikely benign
Select item 240100	NM_005159.5(ACTC1):c.456C>T (p.Gly152=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +4 more	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 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 2182960	NM_005159.5(ACTC1):c.455-12T>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Atrial septal defect 5 +3 more	GLikely benign
Select item 1637537	NM_005159.5(ACTC1):c.455-14A>G	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +3 more	GLikely benign
Select item 700834	NM_005159.5(ACTC1):c.447T>C (p.Arg149=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	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 1635799	NM_005159.5(ACTC1):c.441T>C (p.Ser147=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GLikely benign
Select item 751158	NM_005159.5(ACTC1):c.432G>T (p.Leu144=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +4 more	GLikely benign
Select item 478616	NM_005159.5(ACTC1):c.423G>A (p.Val141=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +4 more	GLikely benign
Select item 3387005	NM_005159.5(ACTC1):c.411C>T (p.Ala137=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 416055	NM_005159.5(ACTC1):c.405C>T (p.Tyr135=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Atrial septal defect 5 +4 more	GLikely benign
Select item 379043	NM_005159.5(ACTC1):c.399C>T (p.Ala133=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +6 more	GLikely benign
Select item 652297	NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser)	ACTC1, GJD2-DT (N130S)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +4 more	GUncertain significance
Select item 925537	NM_005159.5(ACTC1):c.369G>A (p.Gln123=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GLikely benign
Select item 928114	NM_005159.5(ACTC1):c.352C>A (p.Arg118=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GLikely benign
Select item 220307	NM_005159.5(ACTC1):c.333G>A (p.Pro111=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +5 more	GLikely benign
Select item 3075657	NM_005159.5(ACTC1):c.330C>T (p.Ala110=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3387037	NM_005159.5(ACTC1):c.323C>A (p.Thr108Lys)	GJD2-DT, ACTC1 (T108K +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3387042	NM_005159.5(ACTC1):c.321C>A (p.Leu107=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 629633	NM_005159.5(ACTC1):c.318G>A (p.Leu106=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 416058	NM_005159.5(ACTC1):c.309C>T (p.His103=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
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 772478	NM_005159.5(ACTC1):c.300C>T (p.Pro100=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +7 more	GLikely benign
Select item 45174	NM_005159.5(ACTC1):c.294G>A (p.Val98=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 136280	NM_005159.5(ACTC1):c.270C>T (p.His90=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 18326	NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)	ACTC1, GJD2-DT (H90Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 1709086	NM_005159.5(ACTC1):c.246C>A (p.Asp82Glu)	ACTC1, GJD2-DT (D37E +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 516876	NM_005159.5(ACTC1):c.246C>T (p.Asp82=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +7 more	GLikely benign
Select item 629023	NM_005159.5(ACTC1):c.240C>T (p.Asn80=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 1171873	NM_005159.5(ACTC1):c.234C>T (p.Ile78=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GLikely benign

<< First< Prev

Page of 2