Related gene-specific medical variations for Gene (Select 59) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374753	NM_001613.4(ACTA2):c.479G>T (p.Gly160Val)	ACTA2 (G117V +2 more)	Single nucleotide variant (missense variant)	Thoracic aortic aneurysm or dissection	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 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 3359963	NM_001613.4(ACTA2):c.649_652dup (p.Leu218fs)	ACTA2 (L175fs +2 more)	Duplication (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3351821	NM_000043.6(FAS):c.12C>G (p.Ile4Met)	ACTA2, FAS (I4M)	Single nucleotide variant (missense variant +2 more)	FAS-related disorder	GUncertain significance
Select item 3346803	NM_001613.4(ACTA2):c.705A>G (p.Ser235=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	ACTA2-related disorder	GLikely benign
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 3263607	NM_001613.4(ACTA2):c.675T>A (p.Phe225Leu)	ACTA2, ACTA2-AS1 (F188L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3263585	NM_001613.4(ACTA2):c.763G>T (p.Glu255Ter)	ACTA2, ACTA2-AS1 (E218* +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3263576	NM_001613.4(ACTA2):c.870C>T (p.Asp290=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3221764	NM_001613.4(ACTA2):c.933T>A (p.Ile311=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3221763	NM_001613.4(ACTA2):c.687G>A (p.Met229Ile)	ACTA2, ACTA2-AS1 (M186I +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075542	NM_001613.4(ACTA2):c.638A>G (p.Asp213Gly)	ACTA2-AS1, ACTA2 (D170G +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075541	NM_001613.4(ACTA2):c.756C>A (p.Ile252=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075540	NM_001613.4(ACTA2):c.807C>A (p.Ile269=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075539	NM_001613.4(ACTA2):c.872T>A (p.Ile291Asn)	ACTA2-AS1, ACTA2 (I227N +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075538	NM_001613.4(ACTA2):c.945G>A (p.Met315Ile)	ACTA2, ACTA2-AS1 (M251I +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 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 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 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 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 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 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 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 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 3072721	NM_001613.4(ACTA2):c.821C>T (p.Ala274Val)	ACTA2, ACTA2-AS1 (A210V +3 more)	Single nucleotide variant (non-coding transcript 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 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 3071963	NM_001613.4(ACTA2):c.871A>G (p.Ile291Val)	ACTA2-AS1, ACTA2 (I227V +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070650	NM_001613.4(ACTA2):c.728A>G (p.Glu243Gly)	ACTA2, ACTA2-AS1 (E200G +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070516	NM_001613.4(ACTA2):c.702C>T (p.Ser234=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	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 3050852	NM_001613.4(ACTA2):c.861T>C (p.Cys287=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	ACTA2-related disorder	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 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 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 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 2892719	NM_001613.4(ACTA2):c.809-20G>A	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely 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 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 (non-coding transcript 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 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 2846175	NM_001613.4(ACTA2):c.809-9C>G	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2836781	NM_000043.6(FAS):c.30+14_30+18dup	ACTA2, FAS	Duplication (5 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
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 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 2783327	NM_001613.4(ACTA2):c.837C>A (p.Thr279=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	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 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 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 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 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 2741677	NM_000043.6(FAS):c.27T>C (p.Pro9=)	ACTA2, FAS	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	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 (non-coding transcript variant +1 more)	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 (frameshift 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 2624663	NM_001613.4(ACTA2):c.883C>G (p.Leu295Val)	ACTA2, ACTA2-AS1 (L252V +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2581632	NM_001613.4(ACTA2):c.808+15C>T	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
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 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 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 2565243	NM_001613.4(ACTA2):c.653T>G (p.Leu218Arg)	ACTA2, ACTA2-AS1 (L181R +2 more)	Single nucleotide variant (non-coding transcript variant +2 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 2565240	NM_001613.4(ACTA2):c.708C>T (p.Ser236=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2497611	NM_001613.4(ACTA2):c.677A>C (p.Glu226Ala)	ACTA2, ACTA2-AS1 (E226A +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2450526	NM_001613.4(ACTA2):c.688G>A (p.Ala230Thr)	ACTA2, ACTA2-AS1 (A187T +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	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 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 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 2195501	NM_000043.6(FAS):c.15G>C (p.Trp5Cys)	ACTA2, FAS (W5C)	Single nucleotide variant (intron variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2194652	NM_001613.4(ACTA2):c.808+13C>T	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	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 (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2153050	NM_001613.4(ACTA2):c.617-12T>C	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 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 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 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 2114880	NM_000043.6(FAS):c.4C>T (p.Leu2=)	ACTA2, FAS	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	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 2104708	NM_000043.6(FAS):c.30+20G>A	ACTA2, FAS	Single nucleotide variant (5 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2086267	NM_001613.4(ACTA2):c.808+9C>A	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
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 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 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 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 2036572	NM_001613.4(ACTA2):c.733C>G (p.Pro245Ala)	ACTA2, ACTA2-AS1 (P208A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2034063	NM_000043.6(FAS):c.30+2T>C	ACTA2, FAS	Single nucleotide variant (intron variant +1 more)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2026220	NM_001613.4(ACTA2):c.897T>C (p.Asn299=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2004407	NM_001613.4(ACTA2):c.749T>C (p.Ile250Thr)	ACTA2, ACTA2-AS1 (I207T +2 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 1983580	NM_001613.4(ACTA2):c.860G>A (p.Cys287Tyr)	ACTA2, ACTA2-AS1 (C223Y +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance

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