"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ACTA2"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 239035	NM_001613.4(ACTA2):c.1132T>C (p.Ter378Gln)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ACTA2-related disorder +3 more	GUncertain significance
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 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)	Aortic aneurysm, familial thoracic 6 +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 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 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 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 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 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 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 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 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 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 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 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 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 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, ACTA2-AS1 (T326N +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +5 more	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 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 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 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 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
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 577891	NM_001613.4(ACTA2):c.941G>A (p.Arg314Gln)	ACTA2, ACTA2-AS1 (R314Q +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 263926	NM_001613.4(ACTA2):c.940C>T (p.Arg314Ter)	ACTA2, ACTA2-AS1 (R314* +3 more)	Single nucleotide variant (nonsense)	Aortic aneurysm, familial thoracic 6 +1 more	GPathogenic/Likely pathogenic
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 1530025	NM_001613.4(ACTA2):c.933T>C (p.Ile311=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	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 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 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 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 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 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 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 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 2973588	NM_001613.4(ACTA2):c.900C>G (p.Val300=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 1668155	NM_001613.4(ACTA2):c.900C>T (p.Val300=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 649765	NM_001613.4(ACTA2):c.898G>A (p.Val300Ile)	ACTA2, ACTA2-AS1 (V300I +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
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 263843	NM_001613.4(ACTA2):c.896A>G (p.Asn299Ser)	ACTA2, ACTA2-AS1 (N299S +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	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 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 1380301	NM_001613.4(ACTA2):c.868G>A (p.Asp290Asn)	ACTA2, ACTA2-AS1 (D290N +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 536916	NM_001613.4(ACTA2):c.866T>A (p.Ile289Asn)	ACTA2, ACTA2-AS1 (I289N +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	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 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
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 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 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 1470765	NM_001613.4(ACTA2):c.814G>C (p.Glu272Gln)	ACTA2, ACTA2-AS1 (E272Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 969713	NM_001613.4(ACTA2):c.814G>T (p.Glu272Ter)	ACTA2, ACTA2-AS1 (E272* +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	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 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 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 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 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 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 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 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 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 1447632	NM_001613.4(ACTA2):c.808+5G>A	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	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)	Aortic aneurysm, familial thoracic 6 +2 more	GLikely benign
Select item 753690	NM_001613.4(ACTA2):c.786C>G (p.Thr262=)	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 412815	NM_001613.4(ACTA2):c.786C>T (p.Thr262=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 1523708	NM_001613.4(ACTA2):c.784A>G (p.Thr262Ala)	ACTA2, ACTA2-AS1 (T262A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	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 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)	Aortic aneurysm, familial thoracic 6 +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)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 263578	NM_001613.4(ACTA2):c.766C>T (p.Arg256Cys)	ACTA2, ACTA2-AS1 (R256C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +4 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 1052986	NM_001613.4(ACTA2):c.758G>T (p.Gly253Val)	ACTA2, ACTA2-AS1 (G253V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
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)	Aortic aneurysm, familial thoracic 6 +1 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)	Aortic aneurysm, familial thoracic 6 +2 more	GUncertain significance
Select item 1051381	NM_001613.4(ACTA2):c.757G>C (p.Gly253Arg)	ACTA2, ACTA2-AS1 (G253R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	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 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

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