"Color Diagnostics, LLC DBA Color Health"[submitter] AND "ACTA2-AS1"[g - 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 1171051	NM_001613.4(ACTA2):c.*5C>T	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 923429	NM_001613.4(ACTA2):c.1133A>G (p.Ter378=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 922062	NM_001613.4(ACTA2):c.1131C>T (p.Phe377=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 921802	NM_001613.4(ACTA2):c.1120C>T (p.Arg374Cys)	ACTA2, ACTA2-AS1 (R374C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +2 more	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)	not provided +1 more	GUncertain significance
Select item 923191	NM_001613.4(ACTA2):c.1100C>T (p.Ala367Val)	ACTA2, ACTA2-AS1 (A367V +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)	Aortic aneurysm, familial thoracic 6 +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 519578	NM_001613.4(ACTA2):c.1087G>C (p.Glu363Gln)	ACTA2, ACTA2-AS1 (E363Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 920316	NM_001613.4(ACTA2):c.1051_1052del (p.Leu351fs)	ACTA2, ACTA2-AS1 (L351fs)	Microsatellite (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 469082	NM_001613.4(ACTA2):c.1047C>T (p.Ala349=)	ACTA2-AS1, ACTA2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 923880	NM_001613.4(ACTA2):c.1023C>T (p.Val341=)	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 199682	NM_001613.4(ACTA2):c.1019_1020del (p.Ser340fs)	ACTA2-AS1, ACTA2 (S340fs)	Microsatellite (frameshift variant +1 more)	Multisystemic smooth muscle dysfunction syndrome +2 more	GUncertain significance
Select item 697672	NM_001613.4(ACTA2):c.1017C>T (p.Tyr339=)	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 1171397	NM_001613.4(ACTA2):c.1013A>G (p.Lys338Arg)	ACTA2, ACTA2-AS1 (K338R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1172384	NM_001613.4(ACTA2):c.1009C>T (p.Arg337Cys)	ACTA2, ACTA2-AS1 (R337C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +1 more	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)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 382846	NM_001613.4(ACTA2):c.991-6T>C	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 3894447	NM_001613.4(ACTA2):c.990+1G>T	ACTA2-AS1, ACTA2	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 263430	NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn)	ACTA2, ACTA2-AS1 (T326N +3 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 918185	NM_001613.4(ACTA2):c.964C>T (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-AS1, ACTA2 (A321G +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 536921	NM_001613.4(ACTA2):c.960G>A (p.Thr320=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +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)	Aortic aneurysm, familial thoracic 6 +2 more	GUncertain significance
Select item 2059777	NM_001613.4(ACTA2):c.951G>A (p.Lys317=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 921845	NM_001613.4(ACTA2):c.947A>T (p.Gln316Leu)	ACTA2, ACTA2-AS1 (Q316L +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)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely 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 923558	NM_001613.4(ACTA2):c.911G>A (p.Gly304Asp)	ACTA2, ACTA2-AS1 (G304D +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 628320	NM_001613.4(ACTA2):c.906del (p.Gly304fs)	ACTA2-AS1, ACTA2 (G304fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 412814	NM_001613.4(ACTA2):c.903A>G (p.Leu301=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 927130	NM_001613.4(ACTA2):c.873C>G (p.Ile291Met)	ACTA2, ACTA2-AS1 (I291M +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)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 921033	NM_001613.4(ACTA2):c.843del (p.Thr280_Tyr281insTer)	ACTA2, ACTA2-AS1	Deletion (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2773308	NM_001613.4(ACTA2):c.819T>G (p.Ser273=)	ACTA2-AS1, ACTA2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1172060	NM_001613.4(ACTA2):c.811A>T (p.Met271Leu)	ACTA2, ACTA2-AS1 (M271L +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1172288	NM_001613.4(ACTA2):c.809-15G>C	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 199675	NM_001613.4(ACTA2):c.808G>A (p.Gly270Arg)	ACTA2, ACTA2-AS1 (G270R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 380616	NM_001613.4(ACTA2):c.807C>T (p.Ile269=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 6 +2 more	GLikely benign
Select item 921496	NM_001613.4(ACTA2):c.804C>T (p.Phe268=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 926282	NM_001613.4(ACTA2):c.775del (p.Cys259fs)	ACTA2, ACTA2-AS1 (C259fs)	Deletion (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 18278	NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys)	ACTA2, ACTA2-AS1 (R258C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic
Select item 3893750	NM_001613.4(ACTA2):c.771C>T (p.Phe257=)	ACTA2-AS1, ACTA2	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2773591	NM_001613.4(ACTA2):c.768T>C (p.Arg256=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 921546	NM_001613.4(ACTA2):c.758G>A (p.Gly253Glu)	ACTA2, ACTA2-AS1 (G253E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +1 more	GUncertain significance
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 508644	NM_001613.4(ACTA2):c.726C>T (p.Tyr242=)	ACTA2-AS1, ACTA2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GLikely benign
Select item 925338	NM_001613.4(ACTA2):c.722G>A (p.Ser241Asn)	ACTA2, ACTA2-AS1 (S241N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 927653	NM_001613.4(ACTA2):c.698C>T (p.Ala233Val)	ACTA2, ACTA2-AS1 (A233V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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)	Aortic aneurysm, familial thoracic 6 +1 more	GUncertain significance
Select item 979112	NM_001613.4(ACTA2):c.691A>G (p.Thr231Ala)	ACTA2, ACTA2-AS1 (T231A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +1 more	GUncertain significance
Select item 919137	NM_001613.4(ACTA2):c.689C>G (p.Ala230Gly)	ACTA2, ACTA2-AS1 (A230G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 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 921662	NM_001613.4(ACTA2):c.660T>C (p.Tyr220=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 921433	NM_001613.4(ACTA2):c.654G>A (p.Leu218=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2575103	NM_001613.4(ACTA2):c.648G>C (p.Glu216Asp)	ACTA2, ACTA2-AS1 (E173D +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 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)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 377434	NM_001613.4(ACTA2):c.617-14T>C	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +2 more	GLikely benign

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Items: 62