"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 927073	NM_001613.4(ACTA2):c.6_38del	ACTA2, ACTA2-AS1	Deletion (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072687	NM_001613.4(ACTA2):c.*3C>T	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 922062	NM_001613.4(ACTA2):c.1131C>T (p.Phe377=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1310808	NM_001613.4(ACTA2):c.1121G>A (p.Arg374His)	ACTA2, ACTA2-AS1 (R374H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +2 more	GUncertain significance
Select item 3075533	NM_001613.4(ACTA2):c.1115T>C (p.Val372Ala)	ACTA2, ACTA2-AS1 (V308A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 918694	NM_001613.4(ACTA2):c.1109C>G (p.Ser370Cys)	ACTA2, ACTA2-AS1 (S370C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 3075534	NM_001613.4(ACTA2):c.1101C>T (p.Ala367=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3074151	NM_001613.4(ACTA2):c.1095T>G (p.Asp365Glu)	ACTA2-AS1, ACTA2 (D301E +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073458	NM_001613.4(ACTA2):c.1093G>A (p.Asp365Asn)	ACTA2, ACTA2-AS1 (D301N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 922572	NM_001613.4(ACTA2):c.1092C>T (p.Tyr364=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 629607	NM_001613.4(ACTA2):c.1089A>G (p.Glu363=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 469082	NM_001613.4(ACTA2):c.1047C>T (p.Ala349=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 697672	NM_001613.4(ACTA2):c.1017C>T (p.Tyr339=)	ACTA2-AS1, ACTA2	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 3073497	NM_001613.4(ACTA2):c.1004C>T (p.Pro335Leu)	ACTA2, ACTA2-AS1 (P271L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072594	NM_001613.4(ACTA2):c.1003C>A (p.Pro335Thr)	ACTA2, ACTA2-AS1 (P271T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1171155	NM_001613.4(ACTA2):c.991-4A>C	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +1 more	GConflicting classifications of pathogenicity
Select item 1129602	NM_001613.4(ACTA2):c.991-8A>G	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 3069840	NM_001613.4(ACTA2):c.991-16del	ACTA2, ACTA2-AS1	Deletion (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2200317	NM_001613.4(ACTA2):c.978C>T (p.Thr326=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 263430	NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn)	ACTA2-AS1, ACTA2 (T326N +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +5 more	GUncertain significance
Select item 3075535	NM_001613.4(ACTA2):c.976A>G (p.Thr326Ala)	ACTA2, ACTA2-AS1 (T262A +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075536	NM_001613.4(ACTA2):c.968C>T (p.Ala323Val)	ACTA2-AS1, ACTA2 (A259V +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075537	NM_001613.4(ACTA2):c.966A>C (p.Leu322=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2151008	NM_001613.4(ACTA2):c.962C>G (p.Ala321Gly)	ACTA2, ACTA2-AS1 (A321G +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 536921	NM_001613.4(ACTA2):c.960G>A (p.Thr320=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 627744	NM_001613.4(ACTA2):c.959C>T (p.Thr320Met)	ACTA2, ACTA2-AS1 (T320M +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 3073221	NM_001613.4(ACTA2):c.954G>A (p.Glu318=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 573994	NM_001613.4(ACTA2):c.954G>C (p.Glu318Asp)	ACTA2, ACTA2-AS1 (E318D +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2059777	NM_001613.4(ACTA2):c.951G>A (p.Lys317=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 3075538	NM_001613.4(ACTA2):c.945G>A (p.Met315Ile)	ACTA2, ACTA2-AS1 (M251I +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 263863	NM_001613.4(ACTA2):c.936C>T (p.Ala312=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1530025	NM_001613.4(ACTA2):c.933T>C (p.Ile311=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2888842	NM_001613.4(ACTA2):c.919A>G (p.Met307Val)	ACTA2, ACTA2-AS1 (M243V +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +1 more	GUncertain significance
Select item 412814	NM_001613.4(ACTA2):c.903A>G (p.Leu301=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 263843	NM_001613.4(ACTA2):c.896A>G (p.Asn299Ser)	ACTA2, ACTA2-AS1 (N299S +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +1 more	GUncertain significance
Select item 3075539	NM_001613.4(ACTA2):c.872T>A (p.Ile291Asn)	ACTA2-AS1, ACTA2 (I227N +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071963	NM_001613.4(ACTA2):c.871A>G (p.Ile291Val)	ACTA2-AS1, ACTA2 (I227V +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1172437	NM_001613.4(ACTA2):c.864T>C (p.Asp288=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 536920	NM_001613.4(ACTA2):c.846C>T (p.Asn282=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 3072721	NM_001613.4(ACTA2):c.821C>T (p.Ala274Val)	ACTA2, ACTA2-AS1 (A210V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075540	NM_001613.4(ACTA2):c.807C>A (p.Ile269=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 753690	NM_001613.4(ACTA2):c.786C>G (p.Thr262=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2041051	NM_001613.4(ACTA2):c.757G>A (p.Gly253Arg)	ACTA2, ACTA2-AS1 (G210R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 3075541	NM_001613.4(ACTA2):c.756C>A (p.Ile252=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 390719	NM_001613.4(ACTA2):c.756C>T (p.Ile252=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +2 more	GLikely benign
Select item 923224	NM_001613.4(ACTA2):c.748A>C (p.Ile250Leu)	ACTA2, ACTA2-AS1 (I250L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1128867	NM_001613.4(ACTA2):c.729G>A (p.Glu243=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 3070650	NM_001613.4(ACTA2):c.728A>G (p.Glu243Gly)	ACTA2, ACTA2-AS1 (E200G +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 508644	NM_001613.4(ACTA2):c.726C>T (p.Tyr242=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GLikely benign
Select item 3070516	NM_001613.4(ACTA2):c.702C>T (p.Ser234=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 199673	NM_001613.4(ACTA2):c.697G>A (p.Ala233Thr)	ACTA2, ACTA2-AS1 (A233T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1532707	NM_001613.4(ACTA2):c.696C>T (p.Ala232=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 2450526	NM_001613.4(ACTA2):c.688G>A (p.Ala230Thr)	ACTA2, ACTA2-AS1 (A187T +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2196020	NM_001613.4(ACTA2):c.678A>C (p.Glu226Asp)	ACTA2, ACTA2-AS1 (E183D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +1 more	GUncertain significance
Select item 698692	NM_001613.4(ACTA2):c.672C>T (p.Asp224=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 921433	NM_001613.4(ACTA2):c.654G>A (p.Leu218=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1090017	NM_001613.4(ACTA2):c.648G>A (p.Glu216=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 877990	NM_001613.4(ACTA2):c.645G>A (p.Lys215=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Multisystemic smooth muscle dysfunction syndrome +2 more	GConflicting classifications of pathogenicity
Select item 930272	NM_001613.4(ACTA2):c.641T>C (p.Ile214Thr)	ACTA2, ACTA2-AS1 (I214T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 3075542	NM_001613.4(ACTA2):c.638A>G (p.Asp213Gly)	ACTA2-AS1, ACTA2 (D170G +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 383658	NM_001613.4(ACTA2):c.623G>A (p.Arg208His)	ACTA2, ACTA2-AS1 (R208H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 2153050	NM_001613.4(ACTA2):c.617-12T>C	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign

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Items: 62