"Color Diagnostics, LLC DBA Color Health"[submitter] AND "ACTC1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 381369	NM_005159.5(ACTC1):c.*5C>G	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 2774856	NM_005159.5(ACTC1):c.*1G>A	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 926175	NM_005159.5(ACTC1):c.*1G>T	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 920426	NM_005159.5(ACTC1):c.1128C>T (p.Cys376=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GLikely benign
Select item 925920	NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr)	GJD2-DT, ACTC1 (A367T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +4 more	GUncertain significance
Select item 377437	NM_005159.5(ACTC1):c.1098G>A (p.Glu366=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +5 more	GLikely benign
Select item 1171524	NM_005159.5(ACTC1):c.1093G>A (p.Asp365Asn)	ACTC1, GJD2-DT (D365N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +6 more	GUncertain significance
Select item 45171	NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 926555	NM_005159.5(ACTC1):c.1078A>G (p.Ser360Gly)	ACTC1, GJD2-DT (S360G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 315702	NM_005159.5(ACTC1):c.1053G>C (p.Leu351=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +6 more	GConflicting classifications of pathogenicity
Select item 921832	NM_005159.5(ACTC1):c.1050T>C (p.Ser350=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
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)	Cardiomyopathy +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)	Dilated cardiomyopathy 1R +5 more	GLikely benign
Select item 925265	NM_005159.5(ACTC1):c.1005T>C (p.Pro335=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +3 more	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 923443	NM_005159.5(ACTC1):c.991-13T>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +4 more	GLikely benign
Select item 993597	NM_005159.5(ACTC1):c.975C>T (p.Ser325=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 487317	NM_005159.5(ACTC1):c.930T>C (p.Gly310=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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)	not specified +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)	Atrial septal defect 5 +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 +1 more	GLikely benign
Select item 2774868	NM_005159.5(ACTC1):c.855G>A (p.Met285Ile)	ACTC1, GJD2-DT (M138I +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 628840	NM_005159.5(ACTC1):c.846T>C (p.Asn282=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 630098	NM_005159.5(ACTC1):c.839C>G (p.Thr280Ser)	ACTC1, GJD2-DT (T280S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1172325	NM_005159.5(ACTC1):c.809-1G>A	ACTC1, GJD2-DT	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy	GUncertain significance
Select item 2774881	NM_005159.5(ACTC1):c.809-4C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 705445	NM_005159.5(ACTC1):c.809-8G>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Cardiomyopathy +3 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)	Atrial septal defect 5 +4 more	GLikely benign
Select item 2774886	NM_005159.5(ACTC1):c.809-14_809-11delinsAA	GJD2-DT, ACTC1	Indel (intron variant)	Cardiomyopathy	GUncertain significance
Select item 926853	NM_005159.5(ACTC1):c.809-12_809-11del	ACTC1, GJD2-DT	Deletion (intron variant)	Cardiomyopathy	GLikely benign
Select item 1171071	NM_005159.5(ACTC1):c.802T>C (p.Phe268Leu)	ACTC1, GJD2-DT (F268L)	Single nucleotide variant (missense variant)	Hypertrophic 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)	not specified +6 more	GLikely benign
Select item 920623	NM_005159.5(ACTC1):c.774C>G (p.Arg258=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 1171324	NM_005159.5(ACTC1):c.765G>A (p.Glu255=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 1332130	NM_005159.5(ACTC1):c.756T>C (p.Ile252=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 1170992	NM_005159.5(ACTC1):c.741C>T (p.Gly247=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 1172133	NM_005159.5(ACTC1):c.720G>A (p.Lys240=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 629731	NM_005159.5(ACTC1):c.717G>A (p.Glu239=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +6 more	GLikely benign
Select item 921941	NM_005159.5(ACTC1):c.681T>C (p.Asn227=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 508728	NM_005159.5(ACTC1):c.663C>T (p.Val221=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Atrial septal defect 5 +5 more	GLikely benign
Select item 919733	NM_005159.5(ACTC1):c.652C>T (p.Leu218=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +5 more	GLikely benign
Select item 2774899	NM_005159.5(ACTC1):c.639C>T (p.Asp213=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic 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)	Dilated cardiomyopathy 1R +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)	ACTC1-related condition +8 more	GUncertain significance
Select item 1332679	NM_005159.5(ACTC1):c.617-7T>A	GJD2-DT, ACTC1	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 629346	NM_005159.5(ACTC1):c.617-7T>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 918242	NM_005159.5(ACTC1):c.617-12_617-11del	ACTC1, GJD2-DT	Deletion (intron variant)	Cardiomyopathy	GLikely benign
Select item 919548	NM_005159.5(ACTC1):c.616+6T>C	GJD2-DT, ACTC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +3 more	GConflicting classifications of pathogenicity
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 1171228	NM_005159.5(ACTC1):c.603C>T (p.Ser201=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2774913	NM_005159.5(ACTC1):c.585C>T (p.Leu195=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy	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 759782	NM_005159.5(ACTC1):c.570C>T (p.Tyr190=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Atrial septal defect 5 +3 more	GLikely benign
Select item 919357	NM_005159.5(ACTC1):c.558C>T (p.Asp186=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2774924	NM_005159.5(ACTC1):c.555G>A (p.Arg185=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 924648	NM_005159.5(ACTC1):c.540G>C (p.Leu180=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
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=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +6 more	GConflicting classifications of pathogenicity
Select item 180754	NM_005159.5(ACTC1):c.523dup (p.His175fs)	ACTC1, GJD2-DT (H175fs)	Duplication (frameshift variant)	not provided +5 more	GUncertain significance
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 1332337	NM_005159.5(ACTC1):c.504T>A (p.Tyr168Ter)	ACTC1, GJD2-DT (Y168*)	Single nucleotide variant (nonsense)	Cardiomyopathy	GUncertain significance
Select item 1129322	NM_005159.5(ACTC1):c.504T>C (p.Tyr168=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +3 more	GLikely benign
Select item 704062	NM_005159.5(ACTC1):c.498C>T (p.Pro166=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GLikely benign
Select item 45179	NM_005159.5(ACTC1):c.465G>A (p.Leu155=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	not provided +7 more	GLikely benign
Select item 2774938	NM_005159.5(ACTC1):c.463C>T (p.Leu155=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 240100	NM_005159.5(ACTC1):c.456C>T (p.Gly152=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GLikely benign
Select item 919556	NM_005159.5(ACTC1):c.455-6G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +3 more	GUncertain significance
Select item 377436	NM_005159.5(ACTC1):c.455-7C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +5 more	GLikely benign
Select item 1332525	NM_005159.5(ACTC1):c.455-9C>T	GJD2-DT, ACTC1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +3 more	GLikely benign
Select item 1172249	NM_005159.5(ACTC1):c.454+5G>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +3 more	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 751158	NM_005159.5(ACTC1):c.432G>T (p.Leu144=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	ACTC1-related condition +4 more	GLikely benign
Select item 923615	NM_005159.5(ACTC1):c.424C>T (p.Leu142=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 922375	NM_005159.5(ACTC1):c.414C>A (p.Ile138=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 416055	NM_005159.5(ACTC1):c.405C>T (p.Tyr135=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +4 more	GLikely benign
Select item 379043	NM_005159.5(ACTC1):c.399C>T (p.Ala133=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +6 more	GLikely benign
Select item 925676	NM_005159.5(ACTC1):c.398C>T (p.Ala133Val)	ACTC1, GJD2-DT (A133V)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +3 more	GUncertain significance
Select item 652297	NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser)	ACTC1, GJD2-DT (N130S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 1332555	NM_005159.5(ACTC1):c.381G>A (p.Glu127=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 920907	NM_005159.5(ACTC1):c.377T>G (p.Phe126Cys)	ACTC1, GJD2-DT (F126C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 45177	NM_005159.5(ACTC1):c.372C>G (p.Ile124Met)	ACTC1, GJD2-DT (I124M)	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=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Atrial septal defect 5 +6 more	GLikely benign
Select item 1332439	NM_005159.5(ACTC1):c.366T>C (p.Thr122=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 928114	NM_005159.5(ACTC1):c.352C>A (p.Arg118=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +3 more	GLikely benign
Select item 924712	NM_005159.5(ACTC1):c.333G>C (p.Pro111=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 220307	NM_005159.5(ACTC1):c.333G>A (p.Pro111=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	ACTC1-related condition +6 more	GLikely benign
Select item 629633	NM_005159.5(ACTC1):c.318G>A (p.Leu106=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +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)	Cardiomyopathy +5 more	GLikely benign
Select item 772478	NM_005159.5(ACTC1):c.300C>T (p.Pro100=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not specified +7 more	GLikely benign
Select item 1172415	NM_005159.5(ACTC1):c.294G>T (p.Val98=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +3 more	GLikely benign
Select item 810747	NM_005159.5(ACTC1):c.278A>G (p.Tyr93Cys)	ACTC1, GJD2-DT (Y93C)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 136280	NM_005159.5(ACTC1):c.270C>T (p.His90=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +6 more	GConflicting classifications of pathogenicity
Select item 2774971	NM_005159.5(ACTC1):c.258G>A (p.Lys86=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 516876	NM_005159.5(ACTC1):c.246C>T (p.Asp82=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not specified +6 more	GLikely benign
Select item 629023	NM_005159.5(ACTC1):c.240C>T (p.Asn80=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy +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 11 +4 more	GLikely benign
Select item 45172	NM_005159.5(ACTC1):c.219C>T (p.Ile73=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 228429	NM_005159.5(ACTC1):c.217A>G (p.Ile73Val)	GJD2-DT, ACTC1 (I73V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance

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