"ACTA2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 239035	NM_001613.4(ACTA2):c.1132T>C (p.Ter378Gln)	ACTA2-AS1, ACTA2	Single nucleotide variant (non-coding transcript variant +1 more)	ACTA2-related disorder +3 more	GUncertain significance
Select item 382846	NM_001613.4(ACTA2):c.991-6T>C	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 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)	not specified +6 more	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 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 29598	NM_001613.4(ACTA2):c.536G>A (p.Arg179His)	ACTA2 (R179H +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +5 more	GPathogenic
Select item 264091	NM_001613.4(ACTA2):c.420G>A (p.Ala140=)	ACTA2	Single nucleotide variant (synonymous variant)	Multisystemic smooth muscle dysfunction syndrome +3 more	GConflicting classifications of pathogenicity
Select item 509490	NM_001613.4(ACTA2):c.411T>A (p.Ala137=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 922906	NM_001613.4(ACTA2):c.259-8C>T	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6 +2 more	GLikely benign
Select item 136278	NM_001613.4(ACTA2):c.201G>C (p.Leu67=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	ACTA2-related disorder +5 more	GConflicting classifications of pathogenicity
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 380394	NM_001613.4(ACTA2):c.60G>A (p.Lys20=)	ACTA2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign