ACTA2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 674575	NM_001613.4(ACTA2):c.616+192_616+194del	ACTA2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2911389	NM_001613.4(ACTA2):c.616+18T>C	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2173773	NM_001613.4(ACTA2):c.616+10G>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 838562	NM_001613.4(ACTA2):c.616+6G>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6 +1 more	GUncertain significance
Select item 923367	NM_001613.4(ACTA2):c.616+5G>C	ACTA2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1751957	NM_001613.4(ACTA2):c.616+2T>G	ACTA2	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 284156	NM_001613.4(ACTA2):c.616G>A (p.Ala206Thr)	ACTA2 (A206T +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +1 more	GConflicting classifications of pathogenicity
Select item 652454	NM_001613.4(ACTA2):c.615T>C (p.Thr205=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2767190	NM_001613.4(ACTA2):c.613A>G (p.Thr205Ala)	ACTA2 (T162A +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 495144	NM_001613.4(ACTA2):c.612T>C (p.Thr204=)	ACTA2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 387686	NM_001613.4(ACTA2):c.611C>T (p.Thr204Ile)	ACTA2 (T204I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 44218	NM_001613.4(ACTA2):c.607G>A (p.Val203Ile)	ACTA2 (V203I +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 512884	NM_001613.4(ACTA2):c.606C>T (p.Phe202=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 264311	NM_001613.4(ACTA2):c.593G>A (p.Arg198His)	ACTA2 (R198H +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 263819	NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys)	ACTA2 (R198C +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +2 more	GConflicting classifications of pathogenicity
Select item 264095	NM_001613.4(ACTA2):c.591G>T (p.Glu197Asp)	ACTA2 (E197D +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 258169	NM_001613.4(ACTA2):c.591G>A (p.Glu197=)	ACTA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2911132	NM_001613.4(ACTA2):c.588T>G (p.Thr196=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2640667	NM_001613.4(ACTA2):c.586A>T (p.Thr196Ser)	ACTA2 (T153S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 926270	NM_001613.4(ACTA2):c.586del (p.Thr196fs)	ACTA2 (T196fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2141190	NM_001613.4(ACTA2):c.583C>T (p.Leu195=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 924675	NM_001613.4(ACTA2):c.579G>A (p.Lys193=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 923753	NM_001613.4(ACTA2):c.578A>G (p.Lys193Arg)	ACTA2 (K193R +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 982344	NM_001613.4(ACTA2):c.576G>C (p.Met192Ile)	ACTA2 (M192I +2 more)	Single nucleotide variant (missense variant)	Isolated thoracic aortic aneurysm	GUncertain significance
Select item 922914	NM_001613.4(ACTA2):c.574A>G (p.Met192Val)	ACTA2 (M192V +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +1 more	GUncertain significance
Select item 618509	NM_001613.4(ACTA2):c.569A>C (p.Tyr190Ser)	ACTA2 (Y190S +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1332192	NM_001613.4(ACTA2):c.567C>T (p.Asp189=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1988978	NM_001613.4(ACTA2):c.563C>T (p.Thr188Ile)	ACTA2 (T145I +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 381615	NM_001613.4(ACTA2):c.554G>A (p.Arg185Gln)	ACTA2 (R185Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 519577	NM_001613.4(ACTA2):c.553C>G (p.Arg185Gly)	ACTA2 (R185G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 389807	NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter)	ACTA2 (R185* +2 more)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 3221762	NM_001613.4(ACTA2):c.549T>C (p.Ala183=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2995217	NM_001613.4(ACTA2):c.548C>G (p.Ala183Gly)	ACTA2 (A140G +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 700696	NM_001613.4(ACTA2):c.538C>T (p.Leu180=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 3071352	NM_001613.4(ACTA2):c.537T>G (p.Arg179=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075543	NM_001613.4(ACTA2):c.535_536insTGGCAT (p.Arg179delinsLeuAlaCys)	ACTA2	Insertion (inframe_indel)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 986791	NM_001613.4(ACTA2):c.536G>T (p.Arg179Leu)	ACTA2 (R136L +1 more)	Single nucleotide variant (missense variant)	Multisystemic smooth muscle dysfunction syndrome	GPathogenic
Select item 29598	NM_001613.4(ACTA2):c.536G>A (p.Arg179His)	ACTA2 (R179H +2 more)	Single nucleotide variant (missense variant)	Moyamoya disease 5 +4 more	GPathogenic
Select item 911956	NM_001613.4(ACTA2):c.535C>A (p.Arg179Ser)	ACTA2 (R142S +1 more)	Single nucleotide variant (missense variant)	Multisystemic smooth muscle dysfunction syndrome	GPathogenic
Select item 265026	NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys)	ACTA2 (R179C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1746933	NM_001613.4(ACTA2):c.533T>C (p.Met178Thr)	ACTA2 (M135T +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 448983	NM_001613.4(ACTA2):c.523dup (p.His175fs)	ACTA2 (H175fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2863231	NM_001613.4(ACTA2):c.523del (p.His175fs)	ACTA2 (H175fs +2 more)	Deletion (frameshift variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 1298493	NM_001613.4(ACTA2):c.523C>G (p.His175Asp)	ACTA2 (H175D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952641	NM_001613.4(ACTA2):c.522C>T (p.Pro174=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 1746090	NM_001613.4(ACTA2):c.520C>T (p.Pro174Ser)	ACTA2 (P131S +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 391491	NM_001613.4(ACTA2):c.515C>T (p.Ala172Val)	ACTA2 (A172V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 971498	NM_001613.4(ACTA2):c.512A>G (p.Tyr171Cys)	ACTA2 (Y171C +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 1491958	NM_001613.4(ACTA2):c.511T>A (p.Tyr171Asn)	ACTA2 (Y171N +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2146881	NM_001613.4(ACTA2):c.510C>T (p.Gly170=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1745094	NM_001613.4(ACTA2):c.505G>A (p.Glu169Lys)	ACTA2 (E126K +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +1 more	GUncertain significance
Select item 263639	NM_001613.4(ACTA2):c.496C>A (p.Pro166Thr)	ACTA2 (P166T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1331774	NM_001613.4(ACTA2):c.495C>T (p.Val165=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 1161994	NM_001613.4(ACTA2):c.495C>A (p.Val165=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1714210	NM_001613.4(ACTA2):c.493G>A (p.Val165Ile)	ACTA2 (V122I +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 760283	NM_001613.4(ACTA2):c.492T>C (p.Asn164=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2706080	NM_001613.4(ACTA2):c.483C>T (p.Val161=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 920661	NM_001613.4(ACTA2):c.482T>A (p.Val161Asp)	ACTA2 (V161D +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 812016	NM_001613.4(ACTA2):c.482T>C (p.Val161Ala)	ACTA2 (V161A +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 2880030	NM_001613.4(ACTA2):c.481G>A (p.Val161Ile)	ACTA2 (V118I +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 199672	NM_001613.4(ACTA2):c.478G>A (p.Gly160Ser)	ACTA2 (G160S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 795740	NM_001613.4(ACTA2):c.477T>C (p.Asp159=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 3251167	NM_001613.4(ACTA2):c.475G>C (p.Asp159His)	ACTA2 (D116H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1742457	NM_001613.4(ACTA2):c.468C>T (p.Asp156=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2756936	NM_001613.4(ACTA2):c.466G>C (p.Asp156His)	ACTA2 (D113H +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2126855	NM_001613.4(ACTA2):c.465G>A (p.Leu155=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 3071479	NM_001613.4(ACTA2):c.463C>A (p.Leu155Met)	ACTA2 (L112M +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 469085	NM_001613.4(ACTA2):c.461T>C (p.Val154Ala)	ACTA2 (V154A +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 577503	NM_001613.4(ACTA2):c.460G>A (p.Val154Met)	ACTA2 (V154M +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 629780	NM_001613.4(ACTA2):c.459C>T (p.Ile153=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 877991	NM_001613.4(ACTA2):c.456C>T (p.Gly152=)	ACTA2	Single nucleotide variant (synonymous variant)	Multisystemic smooth muscle dysfunction syndrome +2 more	GConflicting classifications of pathogenicity
Select item 649711	NM_001613.4(ACTA2):c.455G>A (p.Gly152Asp)	ACTA2 (G152D +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2984788	NM_001613.4(ACTA2):c.455-3C>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 927654	NM_001613.4(ACTA2):c.455-3del	ACTA2	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 3076155	NM_001613.4(ACTA2):c.455-9G>A	ACTA2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 927655	NM_001613.4(ACTA2):c.455-9G>T	ACTA2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1172271	NM_001613.4(ACTA2):c.455-11T>C	ACTA2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 35644	NM_001613.4(ACTA2):c.455-17G>A	ACTA2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 2816505	NM_001613.4(ACTA2):c.455-18C>G	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 380264	NM_001613.4(ACTA2):c.455-18C>T	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6 +1 more	GBenign/Likely benign
Select item 1219492	NM_001613.4(ACTA2):c.455-154T>C	ACTA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194774	NM_001613.4(ACTA2):c.455-161C>T	ACTA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197273	NM_001613.4(ACTA2):c.454+65G>A	ACTA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004983	NM_001613.4(ACTA2):c.454+17G>T	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2064702	NM_001613.4(ACTA2):c.454+15G>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2976207	NM_001613.4(ACTA2):c.454+14C>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2196248	NM_001613.4(ACTA2):c.454+14C>T	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 570460	NM_001613.4(ACTA2):c.454+5G>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2746137	NM_001613.4(ACTA2):c.454+3A>G	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 1741358	NM_001613.4(ACTA2):c.454+1G>T	ACTA2	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1693278	NM_001613.4(ACTA2):c.454+1del	ACTA2	Deletion (splice donor variant)	Descending aortic dissection	GPathogenic
Select item 925964	NM_001613.4(ACTA2):c.453T>C (p.Thr151=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 469084	NM_001613.4(ACTA2):c.452C>A (p.Thr151Asn)	ACTA2 (T151N +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 519580	NM_001613.4(ACTA2):c.446G>A (p.Arg149His)	ACTA2 (R149H +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +1 more	GUncertain significance
Select item 199671	NM_001613.4(ACTA2):c.446G>T (p.Arg149Leu)	ACTA2 (R149L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 18276	NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys)	ACTA2 (R149C +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +2 more	GPathogenic
Select item 1740477	NM_001613.4(ACTA2):c.441T>C (p.Ser147=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075544	NM_001613.4(ACTA2):c.438C>G (p.Ala146=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 921682	NM_001613.4(ACTA2):c.435T>C (p.Tyr145=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 264091	NM_001613.4(ACTA2):c.420G>A (p.Ala140=)	ACTA2	Single nucleotide variant (synonymous variant)	Multisystemic smooth muscle dysfunction syndrome +2 more	GConflicting classifications of pathogenicity

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