ClinVar for MedGen (Select 435866) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3021067	NM_001613.4(ACTA2):c.124C>T (p.His42Tyr)	ACTA2 (H42Y)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 3019090	NM_001613.4(ACTA2):c.369+19C>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 3017219	NM_001613.4(ACTA2):c.51G>A (p.Gly17=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 3015057	NM_001613.4(ACTA2):c.405T>C (p.Tyr135=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 3013379	NM_001613.4(ACTA2):c.20G>A (p.Ser7Asn)	ACTA2 (S7N)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 3004983	NM_001613.4(ACTA2):c.454+17G>T	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
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 2996876	NM_001613.4(ACTA2):c.618T>C (p.Ala206=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2995217	NM_001613.4(ACTA2):c.548C>G (p.Ala183Gly)	ACTA2 (A140G +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2994657	NM_001613.4(ACTA2):c.369+13C>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2984788	NM_001613.4(ACTA2):c.455-3C>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2982841	NM_001613.4(ACTA2):c.369+11T>C	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2976207	NM_001613.4(ACTA2):c.454+14C>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2973588	NM_001613.4(ACTA2):c.900C>G (p.Val300=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2973216	NM_001613.4(ACTA2):c.342C>A (p.Pro114=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
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 2919448	NM_001613.4(ACTA2):c.370-4G>T	ACTA2	Single nucleotide variant (intron variant)	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 2911389	NM_001613.4(ACTA2):c.616+18T>C	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2911132	NM_001613.4(ACTA2):c.588T>G (p.Thr196=)	ACTA2	Single nucleotide variant (synonymous variant)	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 2899248	NM_001613.4(ACTA2):c.108T>A (p.Ile36=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2892719	NM_001613.4(ACTA2):c.809-20G>A	ACTA2, ACTA2-AS1	Single nucleotide variant (intron variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2892457	NM_001613.4(ACTA2):c.148G>A (p.Gly50Arg)	ACTA2 (G50R)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2888842	NM_001613.4(ACTA2):c.919A>G (p.Met307Val)	ACTA2, ACTA2-AS1 (M243V +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2880030	NM_001613.4(ACTA2):c.481G>A (p.Val161Ile)	ACTA2 (V118I +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2873630	NM_001613.4(ACTA2):c.840C>A (p.Thr280=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2865935	NM_001613.4(ACTA2):c.1058C>T (p.Thr353Ile)	ACTA2, ACTA2-AS1 (T289I +3 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2865246	NM_001613.4(ACTA2):c.290G>C (p.Arg97Pro)	ACTA2 (R54P +1 more)	Single nucleotide variant (missense variant +1 more)	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 2863231	NM_001613.4(ACTA2):c.523del (p.His175fs)	ACTA2 (H175fs +2 more)	Deletion (frameshift variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2861913	NM_001613.4(ACTA2):c.259-20T>C	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2857913	NM_001613.4(ACTA2):c.1109C>A (p.Ser370Tyr)	ACTA2, ACTA2-AS1 (S306Y +3 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2846175	NM_001613.4(ACTA2):c.809-9C>G	ACTA2, ACTA2-AS1	Single nucleotide variant (intron variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2845532	NM_001613.4(ACTA2):c.370-14G>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2832896	NM_001613.4(ACTA2):c.883C>A (p.Leu295Ile)	ACTA2, ACTA2-AS1 (L231I +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
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 2818211	NM_001613.4(ACTA2):c.710C>A (p.Ser237Tyr)	ACTA2, ACTA2-AS1 (S194Y +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2816505	NM_001613.4(ACTA2):c.455-18C>G	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2815303	NM_001613.4(ACTA2):c.927T>C (p.Pro309=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2788699	NM_001613.4(ACTA2):c.96T>C (p.Val32=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2783327	NM_001613.4(ACTA2):c.837C>A (p.Thr279=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2783080	NM_001613.4(ACTA2):c.259-12C>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2772057	NM_001613.4(ACTA2):c.914C>T (p.Thr305Ile)	ACTA2, ACTA2-AS1 (T241I +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2767190	NM_001613.4(ACTA2):c.613A>G (p.Thr205Ala)	ACTA2 (T162A +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	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 2763903	NM_001613.4(ACTA2):c.917C>A (p.Thr306Asn)	ACTA2, ACTA2-AS1 (T242N +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2761002	NM_001613.4(ACTA2):c.408G>A (p.Val136=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2756936	NM_001613.4(ACTA2):c.466G>C (p.Asp156His)	ACTA2 (D113H +2 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
Select item 2746137	NM_001613.4(ACTA2):c.454+3A>G	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2743726	NM_001613.4(ACTA2):c.36T>A (p.Cys12Ter)	ACTA2 (C12*)	Single nucleotide variant (nonsense)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2738100	NM_001613.4(ACTA2):c.129+12T>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2735445	NM_001613.4(ACTA2):c.910G>A (p.Gly304Ser)	ACTA2, ACTA2-AS1 (G261S +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2730124	NM_001613.4(ACTA2):c.809-4C>G	ACTA2, ACTA2-AS1	Single nucleotide variant (intron variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2717812	NM_001613.4(ACTA2):c.56G>C (p.Cys19Ser)	ACTA2 (C19S)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2714762	NM_001613.4(ACTA2):c.130-12G>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2714094	NM_001613.4(ACTA2):c.369+5G>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6 +1 more	GUncertain significance
Select item 2711656	NM_001613.4(ACTA2):c.259-20T>G	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2706080	NM_001613.4(ACTA2):c.483C>T (p.Val161=)	ACTA2	Single nucleotide variant (synonymous 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 2702575	NM_001613.4(ACTA2):c.644del (p.Lys215fs)	ACTA2, ACTA2-AS1 (K172fs +2 more)	Deletion (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2698126	NM_001613.4(ACTA2):c.809-5T>C	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2585754	NM_001613.4(ACTA2):c.143G>A (p.Gly48Glu)	ACTA2 (G48E)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2575106	NM_001613.4(ACTA2):c.655T>C (p.Cys219Arg)	ACTA2, ACTA2-AS1 (C176R +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 6	GPathogenic
Select item 2575105	NM_001613.4(ACTA2):c.218T>C (p.Ile73Thr)	ACTA2 (I73T)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 6	GPathogenic
Select item 2575103	NM_001613.4(ACTA2):c.648G>C (p.Glu216Asp)	ACTA2, ACTA2-AS1 (E173D +2 more)	Single nucleotide variant (missense variant +2 more)	Aortic aneurysm, familial thoracic 6	GPathogenic
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 2424208	NC_000010.10:g.(?_90697798)_(90767614_?)dup	ACTA2, FAS +1 more	Duplication	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2419980	NM_001613.4(ACTA2):c.305A>C (p.Glu102Ala)	ACTA2 (E102A +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2415253	NM_001613.4(ACTA2):c.888T>C (p.Tyr296=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2200493	NM_001613.4(ACTA2):c.259-11C>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2200317	NM_001613.4(ACTA2):c.978C>T (p.Thr326=)	ACTA2-AS1, ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 2198817	NM_001613.4(ACTA2):c.132G>T (p.Gly44=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 6 +2 more	GConflicting classifications of pathogenicity
Select item 2196248	NM_001613.4(ACTA2):c.454+14C>T	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
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 2194652	NM_001613.4(ACTA2):c.808+13C>T	ACTA2, ACTA2-AS1	Single nucleotide variant (intron variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2193022	NM_001613.4(ACTA2):c.130-9C>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6 +1 more	GConflicting classifications of pathogenicity
Select item 2173773	NM_001613.4(ACTA2):c.616+10G>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2166039	NM_001613.4(ACTA2):c.748A>G (p.Ile250Val)	ACTA2, ACTA2-AS1 (I250V +2 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2163850	NM_001613.4(ACTA2):c.339C>T (p.Asn113=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2153050	NM_001613.4(ACTA2):c.617-12T>C	ACTA2-AS1, ACTA2	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 2151472	NM_001613.4(ACTA2):c.3G>A (p.Met1Ile)	ACTA2 (M1I)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2151008	NM_001613.4(ACTA2):c.962C>G (p.Ala321Gly)	ACTA2-AS1, ACTA2 (A321G +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +2 more	GUncertain significance
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 2141190	NM_001613.4(ACTA2):c.583C>T (p.Leu195=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2132735	NM_001613.4(ACTA2):c.1020dup (p.Val341fs)	ACTA2, ACTA2-AS1 (V341fs)	Duplication (frameshift variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2129902	NM_001613.4(ACTA2):c.337A>G (p.Asn113Asp)	ACTA2 (N113D +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2129526	NM_001613.4(ACTA2):c.1072T>C (p.Trp358Arg)	ACTA2, ACTA2-AS1 (W294R +3 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2126855	NM_001613.4(ACTA2):c.465G>A (p.Leu155=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2124339	NM_001613.4(ACTA2):c.370-11T>C	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2111776	NM_001613.4(ACTA2):c.929G>A (p.Gly310Asp)	ACTA2, ACTA2-AS1 (G267D +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2110458	NM_001613.4(ACTA2):c.782A>G (p.Glu261Gly)	ACTA2, ACTA2-AS1 (E224G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2086267	NM_001613.4(ACTA2):c.808+9C>A	ACTA2, ACTA2-AS1	Single nucleotide variant (intron variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2071665	NM_001613.4(ACTA2):c.280A>G (p.Asn94Asp)	ACTA2 (N51D +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	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 2064702	NM_001613.4(ACTA2):c.454+15G>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
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 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)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
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

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