"Ambry Genetics"[submitter] AND "ACTC1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2486608	NM_005159.5(ACTC1):c.1120C>T (p.Arg374Cys)	ACTC1, GJD2-DT (R329C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1795245	NM_005159.5(ACTC1):c.1111A>G (p.Ile371Val)	ACTC1, GJD2-DT (I326V +2 more)	Single nucleotide variant (missense 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 1790532	NM_005159.5(ACTC1):c.1095T>C (p.Asp365=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 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 +4 more	GUncertain significance
Select item 1421370	NM_005159.5(ACTC1):c.1067A>G (p.Gln356Arg)	ACTC1, GJD2-DT (Q356R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	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 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 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 2486898	NM_005159.5(ACTC1):c.991A>T (p.Ile331Phe)	ACTC1, GJD2-DT (I331F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 993597	NM_005159.5(ACTC1):c.975C>T (p.Ser325=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GLikely benign
Select item 538809	NM_005159.5(ACTC1):c.973A>G (p.Ser325Gly)	ACTC1, GJD2-DT (S325G)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +3 more	GUncertain significance
Select item 263668	NM_005159.5(ACTC1):c.970C>T (p.Pro324Ser)	ACTC1, GJD2-DT (P324S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 180771	NM_005159.5(ACTC1):c.968C>T (p.Ala323Val)	ACTC1, GJD2-DT (A323V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 520303	NM_005159.5(ACTC1):c.967G>C (p.Ala323Pro)	ACTC1, GJD2-DT (A323P)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +3 more	GUncertain significance
Select item 1766875	NM_005159.5(ACTC1):c.940C>T (p.Arg314Cys)	ACTC1, GJD2-DT (R167C +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 487317	NM_005159.5(ACTC1):c.930T>C (p.Gly310=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +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 1589436	NM_005159.5(ACTC1):c.915C>T (p.Thr305=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely 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 921380	NM_005159.5(ACTC1):c.894C>T (p.Asn298=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 658563	NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp)	ACTC1, GJD2-DT (N298D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 180769	NM_005159.5(ACTC1):c.886T>C (p.Tyr296His)	GJD2-DT, ACTC1 (Y296H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1764572	NM_005159.5(ACTC1):c.875G>C (p.Arg292Pro)	ACTC1, GJD2-DT (R247P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2562966	NM_005159.5(ACTC1):c.870T>C (p.Asp290=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2625263	NM_005159.5(ACTC1):c.853A>G (p.Met285Val)	ACTC1, GJD2-DT (M138V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1763386	NM_005159.5(ACTC1):c.843C>T (p.Tyr281=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1665156	NM_005159.5(ACTC1):c.809-58TG[13]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 928599	NM_005159.5(ACTC1):c.809-58TG[14]	GJD2-DT, ACTC1	Microsatellite (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 315708	NM_005159.5(ACTC1):c.809-58TG[21]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Atrial septal defect +10 more	GConflicting classifications of pathogenicity
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 45189	NM_005159.5(ACTC1):c.808+3G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +5 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 177786	NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu)	ACTC1, GJD2-DT (Q265E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +5 more	GConflicting classifications of pathogenicity
Select item 2625260	NM_005159.5(ACTC1):c.789C>G (p.Leu263=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2562965	NM_005159.5(ACTC1):c.778C>T (p.Pro260Ser)	ACTC1, GJD2-DT (P260S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 180765	NM_005159.5(ACTC1):c.769T>C (p.Phe257Leu)	ACTC1, GJD2-DT (F257L)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 1760141	NM_005159.5(ACTC1):c.768C>T (p.Arg256=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Atrial septal defect 5 +3 more	GLikely benign
Select item 1332130	NM_005159.5(ACTC1):c.756T>C (p.Ile252=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +4 more	GLikely benign
Select item 180763	NM_005159.5(ACTC1):c.755T>C (p.Ile252Thr)	ACTC1, GJD2-DT (I252T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1759365	NM_005159.5(ACTC1):c.752C>T (p.Thr251Ile)	ACTC1, GJD2-DT (T104I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 180256	NM_005159.5(ACTC1):c.751A>G (p.Thr251Ala)	ACTC1, GJD2-DT (T251A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 742115	NM_005159.5(ACTC1):c.747C>T (p.Val249=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 765932	NM_005159.5(ACTC1):c.741C>A (p.Gly247=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 626827	NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp)	ACTC1, GJD2-DT (G247D)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +4 more	GPathogenic/Likely pathogenic
Select item 1758659	NM_005159.5(ACTC1):c.738T>C (p.Asp246=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 629731	NM_005159.5(ACTC1):c.717G>A (p.Glu239=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	not provided +6 more	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 642187	NM_005159.5(ACTC1):c.707C>T (p.Ser236Phe)	ACTC1, GJD2-DT (S236F)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +3 more	GUncertain significance
Select item 508728	NM_005159.5(ACTC1):c.663C>T (p.Val221=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
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 45186	NM_005159.5(ACTC1):c.635G>A (p.Arg212His)	ACTC1, GJD2-DT (R212H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
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 179863	NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys)	ACTC1, GJD2-DT (R208C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +5 more	GUncertain significance
Select item 1674358	NM_005159.5(ACTC1):c.597C>A (p.Gly199=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
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 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 1748233	NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)	ACTC1, GJD2-DT (R140Q +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 45183	NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp)	GJD2-DT, ACTC1 (R185W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
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 180754	NM_005159.5(ACTC1):c.523dup (p.His175fs)	ACTC1, GJD2-DT (H175fs)	Duplication (frameshift variant)	Cardiomyopathy +5 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 2447969	NM_005159.5(ACTC1):c.521C>A (p.Pro174His)	ACTC1, GJD2-DT (P129H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 180776	NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr)	ACTC1, GJD2-DT (I167T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
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 18330	NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala)	ACTC1, GJD2-DT (P166A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 917758	NM_005159.5(ACTC1):c.485C>T (p.Thr162Ile)	ACTC1, GJD2-DT (T162I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	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 264401	NM_005159.5(ACTC1):c.477T>G (p.Asp159Glu)	GJD2-DT, ACTC1 (D159E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 45180	NM_005159.5(ACTC1):c.475G>A (p.Asp159Asn)	GJD2-DT, ACTC1 (D159N)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 3224601	NM_005159.5(ACTC1):c.455-3C>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
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 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 2447971	NM_005159.5(ACTC1):c.438T>C (p.Ala146=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 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 1737724	NM_005159.5(ACTC1):c.408G>C (p.Val136=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Atrial septal defect 5 +3 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 653219	NM_005159.5(ACTC1):c.374T>C (p.Met125Thr)	ACTC1, GJD2-DT (M125T)	Single nucleotide variant (missense variant)	not provided +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 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 1729717	NM_005159.5(ACTC1):c.327G>A (p.Glu109=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
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 416058	NM_005159.5(ACTC1):c.309C>T (p.His103=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GLikely benign
Select item 1799000	NM_005159.5(ACTC1):c.302A>G (p.Glu101Gly)	ACTC1, GJD2-DT (E101G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 18331	NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)	ACTC1, GJD2-DT (E101K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
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 217487	NM_005159.5(ACTC1):c.281A>G (p.Asn94Ser)	ACTC1, GJD2-DT (N94S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +3 more	GConflicting classifications of pathogenicity

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