"Color Diagnostics, LLC DBA Color Health"[submitter] AND "ACTA2"[gene] - ClinVar - NCBI

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	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 (3 prime UTR 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)	not provided +1 more	GLikely benign
Select item 921802	NM_001613.4(ACTA2):c.1120C>T (p.Arg374Cys)	ACTA2-AS1, ACTA2 (R374C +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +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)	Familial thoracic aortic aneurysm and aortic dissection +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)	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 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	GUncertain significance
Select item 469082	NM_001613.4(ACTA2):c.1047C>T (p.Ala349=)	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 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, ACTA2-AS1 (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)	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)	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-AS1, ACTA2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 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)	ACTA2-related disorder +6 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 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	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 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)	not provided +3 more	GConflicting classifications of pathogenicity
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)	Familial thoracic aortic aneurysm and aortic dissection +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)	Aortic aneurysm, familial thoracic 6 +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, ACTA2-AS1	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)	Aortic aneurysm, familial thoracic 6 +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)	Familial thoracic aortic aneurysm and aortic dissection +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 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)	Familial thoracic aortic aneurysm and aortic dissection +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 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)	not provided +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 (synonymous 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 (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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)	not provided +2 more	GUncertain significance
Select item 377434	NM_001613.4(ACTA2):c.617-14T>C	ACTA2, ACTA2-AS1	Single nucleotide variant (intron variant +1 more)	not specified +2 more	GLikely benign
Select item 838562	NM_001613.4(ACTA2):c.616+6G>A	ACTA2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 923367	NM_001613.4(ACTA2):c.616+5G>C	ACTA2	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 44218	NM_001613.4(ACTA2):c.607G>A (p.Val203Ile)	ACTA2 (V203I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 512884	NM_001613.4(ACTA2):c.606C>T (p.Phe202=)	ACTA2	Single nucleotide variant (synonymous variant)	not provided +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 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 924675	NM_001613.4(ACTA2):c.579G>A (p.Lys193=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +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 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 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 700696	NM_001613.4(ACTA2):c.538C>T (p.Leu180=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
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 1331774	NM_001613.4(ACTA2):c.495C>T (p.Val165=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	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 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 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 927654	NM_001613.4(ACTA2):c.455-3del	ACTA2	Deletion (intron variant)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
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)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
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 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)	ACTA2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 301508	NM_001613.4(ACTA2):c.417G>A (p.Gln139=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6 +5 more	GBenign/Likely benign
Select item 509490	NM_001613.4(ACTA2):c.411T>A (p.Ala137=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6 +3 more	GLikely benign
Select item 628908	NM_001613.4(ACTA2):c.403T>C (p.Tyr135His)	ACTA2 (Y135H +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 766538	NM_001613.4(ACTA2):c.401T>C (p.Met134Thr)	ACTA2 (M134T +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +2 more	GConflicting classifications of pathogenicity
Select item 927189	NM_001613.4(ACTA2):c.399C>T (p.Ala133=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 301509	NM_001613.4(ACTA2):c.390T>C (p.Asn130=)	ACTA2	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1332022	NM_001613.4(ACTA2):c.381G>A (p.Glu127=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 199670	NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln)	ACTA2 (R118Q +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +4 more	GPathogenic/Likely pathogenic
Select item 926278	NM_001613.4(ACTA2):c.333C>T (p.Pro111=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 507661	NM_001613.4(ACTA2):c.324G>A (p.Thr108=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 922637	NM_001613.4(ACTA2):c.318G>A (p.Leu106=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1332252	NM_001613.4(ACTA2):c.310C>T (p.Pro104Ser)	ACTA2 (P104S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 919054	NM_001613.4(ACTA2):c.303A>G (p.Glu101=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 384419	NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly)	ACTA2 (A99G +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GUncertain significance
Select item 925109	NM_001613.4(ACTA2):c.288T>C (p.Leu96=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1171477	NM_001613.4(ACTA2):c.281A>G (p.Asn94Ser)	ACTA2 (N94S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2441652	NM_001613.4(ACTA2):c.259-1G>C	ACTA2	Single nucleotide variant (splice acceptor variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 519583	NM_001613.4(ACTA2):c.259-1G>A	ACTA2	Single nucleotide variant (splice acceptor variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 922906	NM_001613.4(ACTA2):c.259-8C>T	ACTA2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 924147	NM_001613.4(ACTA2):c.259-11C>T	ACTA2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1172203	NM_001613.4(ACTA2):c.259-12C>T	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 629730	NM_001613.4(ACTA2):c.259-15C>A	ACTA2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 920300	NM_001613.4(ACTA2):c.258+6G>A	ACTA2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity

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