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 57094	GRCh38/hg38 10q23.31(chr10:88439108-88978831)x3	ACTA2, ACTA2-AS1 +21 more	Copy number gain	See cases	GUncertain significance
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 368929	NC_000010.11:g.88935065C>T	ACTA2-AS1, ACTA2	Single nucleotide variant (non-coding transcript variant)	Moyamoya disease +3 more	GLikely benign
Select item 301503	NM_001613.4(ACTA2):c.*122T>C	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 301504	NM_001613.4(ACTA2):c.*105G>T	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Multisystemic smooth muscle dysfunction syndrome +1 more	GConflicting classifications of pathogenicity
Select item 877831	NM_001613.4(ACTA2):c.*104C>G	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Multisystemic smooth muscle dysfunction syndrome +1 more	GUncertain significance
Select item 301505	NM_001613.4(ACTA2):c.*43A>G	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Multisystemic smooth muscle dysfunction syndrome +1 more	GUncertain significance
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 301506	NM_001613.4(ACTA2):c.*28A>T	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	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 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 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 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 854409	NM_001613.4(ACTA2):c.1126del (p.Cys376fs)	ACTA2, ACTA2-AS1 (C376fs)	Deletion (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
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 921802	NM_001613.4(ACTA2):c.1120C>T (p.Arg374Cys)	ACTA2-AS1, ACTA2 (R374C +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 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 2857913	NM_001613.4(ACTA2):c.1109C>A (p.Ser370Tyr)	ACTA2, ACTA2-AS1 (S306Y +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	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 2764674	NM_001613.4(ACTA2):c.1102G>T (p.Gly368Trp)	ACTA2, ACTA2-AS1 (G304W +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 841121	NM_001613.4(ACTA2):c.1102G>A (p.Gly368Arg)	ACTA2, ACTA2-AS1 (G368R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
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 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 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 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 1491967	NM_001613.4(ACTA2):c.1084C>T (p.Gln362Ter)	ACTA2, ACTA2-AS1 (Q362* +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	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 3263618	NM_001613.4(ACTA2):c.1072T>A (p.Trp358Arg)	ACTA2, ACTA2-AS1 (W294R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2129526	NM_001613.4(ACTA2):c.1072T>C (p.Trp358Arg)	ACTA2, ACTA2-AS1 (W294R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 1996983	NM_001613.4(ACTA2):c.1067A>G (p.Gln356Arg)	ACTA2, ACTA2-AS1 (Q313R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 858804	NM_001613.4(ACTA2):c.1066C>T (p.Gln356Ter)	ACTA2, ACTA2-AS1 (Q356* +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2865935	NM_001613.4(ACTA2):c.1058C>T (p.Thr353Ile)	ACTA2, ACTA2-AS1 (T289I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 1779139	NM_001613.4(ACTA2):c.1058C>A (p.Thr353Asn)	ACTA2, ACTA2-AS1 (T310N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 751094	NM_001613.4(ACTA2):c.1053G>T (p.Leu351=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 2818705	NM_001613.4(ACTA2):c.1044G>C (p.Leu348=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 742626	NM_001613.4(ACTA2):c.1041C>T (p.Ile347=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 636479	NM_001613.4(ACTA2):c.1030G>A (p.Gly344Ser)	ACTA2, ACTA2-AS1 (G344S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 923880	NM_001613.4(ACTA2):c.1023C>T (p.Val341=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 2132735	NM_001613.4(ACTA2):c.1020dup (p.Val341fs)	ACTA2, ACTA2-AS1 (V341fs)	Duplication (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 199682	NM_001613.4(ACTA2):c.1019_1020del (p.Ser340fs)	ACTA2, ACTA2-AS1 (S340fs)	Microsatellite (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
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 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 2565241	NM_001613.4(ACTA2):c.1010G>A (p.Arg337His)	ACTA2, ACTA2-AS1 (R294H +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 519582	NM_001613.4(ACTA2):c.1007A>G (p.Glu336Gly)	ACTA2, ACTA2-AS1 (E336G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 572632	NM_001613.4(ACTA2):c.1006G>C (p.Glu336Gln)	ACTA2, ACTA2-AS1 (E336Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	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 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 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 1956427	NM_001613.4(ACTA2):c.994A>G (p.Ile332Val)	ACTA2, ACTA2-AS1 (I268V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 636533	NM_001613.4(ACTA2):c.991-1del	ACTA2, ACTA2-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
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 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 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 984447	NM_001613.4(ACTA2):c.991-7C>T	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 2037325	NM_001613.4(ACTA2):c.991-11T>C	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	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 2066289	NM_001613.4(ACTA2):c.991-16T>C	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2919230	NM_001613.4(ACTA2):c.991-17T>G	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2907311	NM_001613.4(ACTA2):c.991-20T>A	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	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 3004961	NM_001613.4(ACTA2):c.990+17del	ACTA2, ACTA2-AS1	Deletion (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2705209	NM_001613.4(ACTA2):c.989A>C (p.Lys330Thr)	ACTA2, ACTA2-AS1 (K266T +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2863563	NM_001613.4(ACTA2):c.983_985del (p.Lys328del)	ACTA2, ACTA2-AS1 (K328del +3 more)	Deletion (inframe_indel +1 more)	Aortic aneurysm, familial thoracic 6	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 1349015	NM_001613.4(ACTA2):c.970C>T (p.Pro324Ser)	ACTA2, ACTA2-AS1 (P324S +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	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 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 1330845	NM_001613.4(ACTA2):c.963C>T (p.Ala321=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	not provided	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 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 1767439	NM_001613.4(ACTA2):c.957C>T (p.Ile319=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
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 591823	NM_001613.4(ACTA2):c.953A>G (p.Glu318Gly)	ACTA2, ACTA2-AS1 (E318G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972665	NM_001613.4(ACTA2):c.952G>A (p.Glu318Lys)	ACTA2, ACTA2-AS1 (E275K +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2748635	NM_001613.4(ACTA2):c.949_951del (p.Lys317del)	ACTA2, ACTA2-AS1 (K317del +3 more)	Deletion (inframe_deletion)	Aortic aneurysm, familial thoracic 6	GUncertain significance

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