70[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57451	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3	ACTC1, AQR +93 more	Copy number gain	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 57878	GRCh38/hg38 15q14(chr15:34588015-39280404)x1	ACTC1, AQR +99 more	Copy number loss	See cases	GPathogenic
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	Hypertrophic cardiomyopathy 11 +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 315646	NM_005159.4(ACTC1):c.*2168G>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315647	NM_005159.4(ACTC1):c.*2090A>G	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GBenign
Select item 888010	NM_005159.4(ACTC1):c.*2053G>T	ACTC1, GJD2-DT	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	Hypertrophic cardiomyopathy 11 +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	Dilated cardiomyopathy 1R +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	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315650	NM_005159.4(ACTC1):c.*1797C>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315651	NM_005159.4(ACTC1):c.*1781C>T	GJD2-DT, ACTC1	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 884885	NM_005159.4(ACTC1):c.*1774G>A	ACTC1, GJD2-DT	Single nucleotide variant	ACTC1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 315652	NM_005159.4(ACTC1):c.*1753G>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
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	Hypertrophic cardiomyopathy 11 +2 more	GConflicting classifications of pathogenicity
Select item 315653	NM_005159.4(ACTC1):c.*1682A>G	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +2 more	GBenign
Select item 315654	NM_005159.4(ACTC1):c.*1674C>T	GJD2-DT, ACTC1	Single nucleotide variant	not provided +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	Hypertrophic cardiomyopathy 11 +1 more	GLikely benign
Select item 315656	NM_005159.4(ACTC1):c.*1502G>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315657	NM_005159.4(ACTC1):c.*1482G>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315658	NM_005159.4(ACTC1):c.*1471G>A	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315659	NM_005159.4(ACTC1):c.*1445C>G	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +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 315660	NM_005159.4(ACTC1):c.*1318T>G	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 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	not provided +2 more	GConflicting classifications of pathogenicity
Select item 888093	NM_005159.4(ACTC1):c.*1230C>T	ACTC1, GJD2-DT	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	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315664	NM_005159.4(ACTC1):c.*1115A>T	GJD2-DT, ACTC1	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315665	NM_005159.4(ACTC1):c.*1090A>G	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315666	NM_005159.4(ACTC1):c.*1070A>C	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315667	NM_005159.4(ACTC1):c.*1062G>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315668	NM_005159.4(ACTC1):c.*1039G>A	GJD2-DT, ACTC1	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GBenign
Select item 315669	NM_005159.4(ACTC1):c.*1004A>G	GJD2-DT, ACTC1	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GLikely benign
Select item 315670	NM_005159.4(ACTC1):c.*983C>T	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315671	NM_005159.4(ACTC1):c.*935G>T	GJD2-DT, ACTC1	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 885872	NM_005159.4(ACTC1):c.*927G>A	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 2570899	NM_005159.4(ACTC1):c.*922G>T	ACTC1, GJD2-DT	Single nucleotide variant	not provided	GBenign
Select item 315672	NM_005159.4(ACTC1):c.*918delA	ACTC1, GJD2-DT	Deletion	Dilated Cardiomyopathy, Dominant +1 more	GLikely benign
Select item 315673	NM_005159.4(ACTC1):c.*875G>C	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +1 more	GBenign/Likely benign
Select item 315674	NM_005159.4(ACTC1):c.*868T>G	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +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	ACTC1, GJD2-DT	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	Hypertrophic cardiomyopathy 11 +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 315678	NM_005159.4(ACTC1):c.*775C>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315679	NM_005159.4(ACTC1):c.*757G>A	ACTC1, GJD2-DT	Single nucleotide variant	not provided +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	Hypertrophic cardiomyopathy 11 +1 more	GUncertain significance
Select item 315681	NM_005159.4(ACTC1):c.*739G>T	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315682	NM_005159.4(ACTC1):c.*737C>T	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +2 more	GConflicting classifications of pathogenicity
Select item 315683	NM_005159.4(ACTC1):c.*708G>T	GJD2-DT, ACTC1	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
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 315685	NM_005159.4(ACTC1):c.*674C>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315686	NM_005159.4(ACTC1):c.*646C>A	GJD2-DT, ACTC1	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315687	NM_005159.4(ACTC1):c.*643C>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315688	NM_005159.4(ACTC1):c.*619A>T	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +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 315689	NM_005159.4(ACTC1):c.*561C>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315690	NM_005159.4(ACTC1):c.*518A>G	GJD2-DT, ACTC1	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +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 315692	NM_005159.4(ACTC1):c.*422T>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 315693	NM_005159.4(ACTC1):c.*393G>T	GJD2-DT, ACTC1	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +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	Hypertrophic cardiomyopathy 11 +2 more	GBenign
Select item 315695	NM_005159.4(ACTC1):c.*307T>A	ACTC1, GJD2-DT	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 1235031	NC_000015.10:g.34790111C>T	ACTC1, GJD2-DT	Single nucleotide variant	not provided	GBenign
Select item 315696	NM_005159.4(ACTC1):c.*284G>A	GJD2-DT, ACTC1	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 315697	NM_005159.4(ACTC1):c.*269C>T	GJD2-DT, ACTC1	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +2 more	GBenign/Likely benign
Select item 315698	NM_005159.4(ACTC1):c.*247G>A	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 1282672	NC_000015.10:g.34790188C>T	ACTC1, GJD2-DT	Single nucleotide variant	not provided	GBenign
Select item 315699	NM_005159.4(ACTC1):c.*224G>C	GJD2-DT, ACTC1	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 888205	NM_005159.4(ACTC1):c.*214G>A	ACTC1, GJD2-DT	Single nucleotide variant	not provided +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 1264743	NM_005159.5(ACTC1):c.*116G>A	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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

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