C2677506[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 315643	NM_005159.4(ACTC1):c.*2292C>T	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315644	NM_005159.4(ACTC1):c.*2275C>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated cardiomyopathy 1R +1 more	GUncertain significance
Select item 885738	NM_005159.4(ACTC1):c.*2261A>G	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315645	NM_005159.4(ACTC1):c.*2206C>G	GJD2-DT, ACTC1	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 886744	NM_005159.4(ACTC1):c.*2188T>C	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 886745	NM_005159.4(ACTC1):c.*2179T>C	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315647	NM_005159.4(ACTC1):c.*2090A>G	ACTC1, GJD2-DT	Single nucleotide variant	Dilated cardiomyopathy 1R +1 more	GBenign
Select item 888010	NM_005159.4(ACTC1):c.*2053G>T	GJD2-DT, ACTC1	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GLikely benign
Select item 315648	NM_005159.4(ACTC1):c.*1987G>A	GJD2-DT, ACTC1	Single nucleotide variant	Dilated cardiomyopathy 1R +1 more	GUncertain significance
Select item 888011	NM_005159.4(ACTC1):c.*1919G>A	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315649	NM_005159.4(ACTC1):c.*1893C>T	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 884882	NM_005159.4(ACTC1):c.*1810C>T	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 884883	NM_005159.4(ACTC1):c.*1802C>T	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 884884	NM_005159.4(ACTC1):c.*1800C>T	GJD2-DT, ACTC1	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 884885	NM_005159.4(ACTC1):c.*1774G>A	ACTC1, GJD2-DT	Single nucleotide variant	ACTC1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 885806	NM_005159.4(ACTC1):c.*1749C>T	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 885807	NM_005159.4(ACTC1):c.*1732G>C	ACTC1, GJD2-DT	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 315653	NM_005159.4(ACTC1):c.*1682A>G	GJD2-DT, ACTC1	Single nucleotide variant	Dilated cardiomyopathy 1R +2 more	GBenign
Select item 315654	NM_005159.4(ACTC1):c.*1674C>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated cardiomyopathy 1R +2 more	GBenign/Likely benign
Select item 886813	NM_005159.4(ACTC1):c.*1624G>T	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315655	NM_005159.4(ACTC1):c.*1513T>C	ACTC1, GJD2-DT	Single nucleotide variant	Dilated cardiomyopathy 1R +1 more	GLikely benign
Select item 315658	NM_005159.4(ACTC1):c.*1471G>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated cardiomyopathy 1R +1 more	GUncertain significance
Select item 315659	NM_005159.4(ACTC1):c.*1445C>G	GJD2-DT, ACTC1	Single nucleotide variant	Dilated cardiomyopathy 1R +1 more	GBenign
Select item 888090	NM_005159.4(ACTC1):c.*1378C>T	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 888091	NM_005159.4(ACTC1):c.*1303C>G	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 888092	NM_005159.4(ACTC1):c.*1262G>C	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +2 more	GConflicting classifications of pathogenicity
Select item 888093	NM_005159.4(ACTC1):c.*1230C>T	GJD2-DT, ACTC1	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315661	NM_005159.4(ACTC1):c.*1221A>T	GJD2-DT, ACTC1	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315662	NM_005159.4(ACTC1):c.*1219C>T	ACTC1, GJD2-DT	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 315663	NM_005159.4(ACTC1):c.*1133G>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated cardiomyopathy 1R +1 more	GUncertain significance
Select item 315668	NM_005159.4(ACTC1):c.*1039G>A	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GBenign
Select item 315669	NM_005159.4(ACTC1):c.*1004A>G	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GLikely benign
Select item 885872	NM_005159.4(ACTC1):c.*927G>A	GJD2-DT, ACTC1	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315673	NM_005159.4(ACTC1):c.*875G>C	ACTC1, GJD2-DT	Single nucleotide variant	Dilated cardiomyopathy 1R +1 more	GBenign/Likely benign
Select item 315674	NM_005159.4(ACTC1):c.*868T>G	ACTC1, GJD2-DT	Single nucleotide variant	Dilated cardiomyopathy 1R +1 more	GLikely benign
Select item 315675	NM_005159.4(ACTC1):c.*865T>C	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 886865	NM_005159.4(ACTC1):c.*856G>A	GJD2-DT, ACTC1	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GLikely benign
Select item 315676	NM_005159.4(ACTC1):c.*846G>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated cardiomyopathy 1R +1 more	GLikely benign
Select item 888143	NM_005159.4(ACTC1):c.*781G>A	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GLikely benign
Select item 315677	NM_005159.4(ACTC1):c.*777C>T	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315679	NM_005159.4(ACTC1):c.*757G>A	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +2 more	GBenign/Likely benign
Select item 888144	NM_005159.4(ACTC1):c.*756C>T	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 885025	NM_005159.4(ACTC1):c.*752C>A	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315680	NM_005159.4(ACTC1):c.*742C>G	ACTC1, GJD2-DT	Single nucleotide variant	Dilated cardiomyopathy 1R +1 more	GUncertain significance
Select item 315682	NM_005159.4(ACTC1):c.*737C>T	ACTC1, GJD2-DT	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 885026	NM_005159.4(ACTC1):c.*688T>G	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GLikely benign
Select item 315684	NM_005159.4(ACTC1):c.*679C>G	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315688	NM_005159.4(ACTC1):c.*619A>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated cardiomyopathy 1R +1 more	GUncertain significance
Select item 885935	NM_005159.4(ACTC1):c.*590A>G	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 885936	NM_005159.4(ACTC1):c.*584T>G	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315690	NM_005159.4(ACTC1):c.*518A>G	ACTC1, GJD2-DT	Single nucleotide variant	Dilated cardiomyopathy 1R +1 more	GLikely benign
Select item 886940	NM_005159.4(ACTC1):c.*484C>T	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315691	NM_005159.4(ACTC1):c.*472T>C	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GBenign
Select item 315693	NM_005159.4(ACTC1):c.*393G>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated cardiomyopathy 1R +2 more	GConflicting classifications of pathogenicity
Select item 888204	NM_005159.4(ACTC1):c.*388G>C	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 315694	NM_005159.4(ACTC1):c.*388G>A	ACTC1, GJD2-DT	Single nucleotide variant	not provided +2 more	GBenign
Select item 315697	NM_005159.4(ACTC1):c.*269C>T	ACTC1, GJD2-DT	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 888205	NM_005159.4(ACTC1):c.*214G>A	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +2 more	GConflicting classifications of pathogenicity
Select item 885082	NM_005159.5(ACTC1):c.*137A>T	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 315700	NM_005159.5(ACTC1):c.*40G>A	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1R +1 more	GUncertain significance
Select item 885083	NM_005159.5(ACTC1):c.*39C>T	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 315701	NM_005159.5(ACTC1):c.*35A>T	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 885999	NM_005159.5(ACTC1):c.*22C>T	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 886000	NM_005159.5(ACTC1):c.*20T>A	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 11 +1 more	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 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 315704	NM_005159.5(ACTC1):c.809-12_809-11insGT	ACTC1, GJD2-DT	Insertion (intron variant)	Hypertrophic cardiomyopathy 11 +7 more	GConflicting classifications of pathogenicity
Select item 315710	NM_005159.5(ACTC1):c.809-58TG[25]	GJD2-DT, ACTC1	Microsatellite (intron variant)	Dilated Cardiomyopathy, Dominant +9 more	GConflicting classifications of pathogenicity
Select item 315706	NM_005159.5(ACTC1):c.809-58TG[26]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Dilated Cardiomyopathy, Dominant +9 more	GConflicting classifications of pathogenicity
Select item 315705	NM_005159.5(ACTC1):c.809-58TG[24]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Dilated Cardiomyopathy, Dominant +9 more	GConflicting classifications of pathogenicity
Select item 136281	NM_005159.5(ACTC1):c.809-12A>G	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 315709	NM_005159.5(ACTC1):c.809-58TG[17]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Hypertrophic cardiomyopathy 11 +10 more	GConflicting classifications of pathogenicity
Select item 315708	NM_005159.5(ACTC1):c.809-58TG[21]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Hypertrophic cardiomyopathy 11 +10 more	GConflicting classifications of pathogenicity
Select item 315707	NM_005159.5(ACTC1):c.809-58TG[22]	GJD2-DT, ACTC1	Microsatellite (intron variant)	Dilated cardiomyopathy 1R +9 more	GConflicting classifications of pathogenicity
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 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 517958	NM_005159.5(ACTC1):c.129+6C>G	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +6 more	GConflicting classifications of pathogenicity
Select item 50936	NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)	ACTC1, GJD2-DT (L10M)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 315712	NM_005159.5(ACTC1):c.-23+15G>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 888269	NM_005159.5(ACTC1):c.-50G>A	ACTC1, GJD2-DT	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 315716	NM_005159.5(ACTC1):c.-57T>C	ACTC1, GJD2-DT	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 315717	NM_005159.4(ACTC1):c.-79G>A	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 885161	NM_005159.4(ACTC1):c.-192A>G	GJD2-DT, ACTC1	Single nucleotide variant	Dilated cardiomyopathy 1R +1 more	GUncertain significance
Select item 315723	NM_005159.4(ACTC1):c.-228C>A	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +2 more	GConflicting classifications of pathogenicity

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Items: 85