"GeneDx"[submitter] AND "ACTA2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 1198277	NC_000010.11:g.88935012C>T	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1278133	NC_000010.11:g.88935036G>T	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 239035	NM_001613.4(ACTA2):c.1132T>C (p.Ter378Gln)	ACTA2-AS1, ACTA2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	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 935538	NM_001613.4(ACTA2):c.1112T>A (p.Ile371Asn)	ACTA2, ACTA2-AS1 (I371N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 806544	NM_001613.4(ACTA2):c.1112T>C (p.Ile371Thr)	ACTA2, ACTA2-AS1 (I371T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1700983	NM_001613.4(ACTA2):c.1076T>G (p.Ile359Ser)	ACTA2, ACTA2-AS1 (I359S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
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 199679	NM_001613.4(ACTA2):c.1026G>A (p.Trp342Ter)	ACTA2, ACTA2-AS1 (W342* +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1313236	NM_001613.4(ACTA2):c.1005G>A (p.Pro335=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 374148	NM_001613.4(ACTA2):c.1003C>G (p.Pro335Ala)	ACTA2, ACTA2-AS1 (P335A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 519581	NM_001613.4(ACTA2):c.995T>C (p.Ile332Thr)	ACTA2, ACTA2-AS1 (I332T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 199678	NM_001613.4(ACTA2):c.991-1G>C	ACTA2, ACTA2-AS1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 382846	NM_001613.4(ACTA2):c.991-6T>C	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +2 more	GLikely benign
Select item 674576	NM_001613.4(ACTA2):c.991-120C>T	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1229059	NM_001613.4(ACTA2):c.991-142C>A	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 680518	NM_001613.4(ACTA2):c.991-288A>G	ACTA2, ACTA2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192871	NM_001613.4(ACTA2):c.990+251A>G	ACTA2, ACTA2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250754	NM_001613.4(ACTA2):c.990+123A>G	ACTA2, ACTA2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 383209	NM_001613.4(ACTA2):c.958A>C (p.Thr320Pro)	ACTA2, ACTA2-AS1 (T320P +3 more)	Single nucleotide variant (missense variant)	not provided	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 423468	NM_001613.4(ACTA2):c.916A>G (p.Thr306Ala)	ACTA2, ACTA2-AS1 (T306A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1177977	NM_001613.4(ACTA2):c.882C>T (p.Asp294=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3369112	NM_001613.4(ACTA2):c.876G>C (p.Arg292Ser)	ACTA2, ACTA2-AS1 (R228S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369824	NM_001613.4(ACTA2):c.866T>C (p.Ile289Thr)	ACTA2, ACTA2-AS1 (I225T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 199677	NM_001613.4(ACTA2):c.855G>T (p.Met285Ile)	ACTA2, ACTA2-AS1 (M285I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305287	NM_001613.4(ACTA2):c.816G>C (p.Glu272Asp)	ACTA2, ACTA2-AS1 (E272D +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 199676	NM_001613.4(ACTA2):c.809G>A (p.Gly270Glu)	ACTA2, ACTA2-AS1 (G270E +3 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 512833	NM_001613.4(ACTA2):c.809-19G>A	ACTA2-AS1, ACTA2	Single nucleotide variant (intron variant +1 more)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 1281510	NM_001613.4(ACTA2):c.808+278C>T	ACTA2, ACTA2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228022	NM_001613.4(ACTA2):c.808+244A>T	ACTA2, ACTA2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 301507	NM_001613.4(ACTA2):c.808+14G>A	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +2 more	GConflicting classifications of pathogenicity
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)	Aortic aneurysm, familial thoracic 6 +2 more	GLikely benign
Select item 18277	NM_001613.4(ACTA2):c.773G>A (p.Arg258His)	ACTA2, ACTA2-AS1 (R258H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
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)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic
Select item 264363	NM_001613.4(ACTA2):c.767G>A (p.Arg256His)	ACTA2-AS1, ACTA2 (R256H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +2 more	GConflicting classifications of pathogenicity
Select item 263578	NM_001613.4(ACTA2):c.766C>T (p.Arg256Cys)	ACTA2-AS1, ACTA2 (R256C +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 199674	NM_001613.4(ACTA2):c.763G>A (p.Glu255Lys)	ACTA2, ACTA2-AS1 (E255K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
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 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 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 2573657	NM_001613.4(ACTA2):c.720G>T (p.Lys240Asn)	ACTA2-AS1, ACTA2 (K197N +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
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 44219	NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln)	ACTA2, ACTA2-AS1 (R212Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +4 more	GPathogenic/Likely pathogenic
Select item 1302972	NM_001613.4(ACTA2):c.631G>A (p.Val211Ile)	ACTA2, ACTA2-AS1 (V211I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 388402	NM_001613.4(ACTA2):c.629T>A (p.Ile210Asn)	ACTA2, ACTA2-AS1 (I210N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 389146	NM_001613.4(ACTA2):c.622C>T (p.Arg208Cys)	ACTA2-AS1, ACTA2 (R208C +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
Select item 1293402	NM_001613.4(ACTA2):c.617-224C>T	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 674575	NM_001613.4(ACTA2):c.616+192_616+194del	ACTA2	Microsatellite (intron variant)	not provided	GLikely benign
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 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)	Connective tissue disorder +3 more	GLikely benign
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 258169	NM_001613.4(ACTA2):c.591G>A (p.Glu197=)	ACTA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
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)	Aortic aneurysm, familial thoracic 6 +2 more	GUncertain significance
Select item 389807	NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter)	ACTA2 (R185* +2 more)	Single nucleotide variant (nonsense)	not provided +4 more	GUncertain significance
Select item 29598	NM_001613.4(ACTA2):c.536G>A (p.Arg179His)	ACTA2 (R179H +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	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 448983	NM_001613.4(ACTA2):c.523dup (p.His175fs)	ACTA2 (H175fs)	Duplication (frameshift variant)	not provided	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 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 35644	NM_001613.4(ACTA2):c.455-17G>A	ACTA2	Single nucleotide variant (intron variant)	Familial aortopathy +3 more	GBenign
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 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)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic
Select item 44217	NM_001613.4(ACTA2):c.419C>T (p.Ala140Val)	ACTA2 (A140V +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 301508	NM_001613.4(ACTA2):c.417G>A (p.Gln139=)	ACTA2	Single nucleotide variant (synonymous variant)	Multisystemic smooth muscle dysfunction syndrome +5 more	GBenign/Likely benign
Select item 509490	NM_001613.4(ACTA2):c.411T>A (p.Ala137=)	ACTA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 766538	NM_001613.4(ACTA2):c.401T>C (p.Met134Thr)	ACTA2 (M134T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 301509	NM_001613.4(ACTA2):c.390T>C (p.Asn130=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 2845532	NM_001613.4(ACTA2):c.370-14G>A	ACTA2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 136279	NM_001613.4(ACTA2):c.370-19T>C	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6 +2 more	GBenign
Select item 1181092	NM_001613.4(ACTA2):c.369+276C>T	ACTA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201715	NM_001613.4(ACTA2):c.369+108C>T	ACTA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674574	NM_001613.4(ACTA2):c.369+89G>A	ACTA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205110	NM_001613.4(ACTA2):c.369+65A>G	ACTA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210065	NM_001613.4(ACTA2):c.369+30G>C	ACTA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385194	NM_001613.4(ACTA2):c.369+10C>A	ACTA2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3342830	NM_001613.4(ACTA2):c.369+4A>G	ACTA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1000368	NM_001613.4(ACTA2):c.367C>T (p.Gln123Ter)	ACTA2 (Q123* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 2500689	NM_001613.4(ACTA2):c.362T>C (p.Met121Thr)	ACTA2 (M121T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3338881	NM_001613.4(ACTA2):c.350A>C (p.Asn117Thr)	ACTA2 (N117T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 199669	NM_001613.4(ACTA2):c.344A>G (p.Lys115Arg)	ACTA2 (K115R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 507661	NM_001613.4(ACTA2):c.324G>A (p.Thr108=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 6 +2 more	GLikely benign
Select item 384419	NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly)	ACTA2 (A99G +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GUncertain significance

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