ACTA2[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar

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Items: 23

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9867911.	NM_001613.4(ACTA2):c.536G>T (p.Arg179Leu) GRCh37: Chr10:90701066 GRCh38: Chr10:88941309	ACTA2	R136L, R142L	Multisystemic smooth muscle dysfunction syndrome	Pathogenic (May 27, 2020)	no assertion criteria provided
Select item 295982.	NM_001613.4(ACTA2):c.536G>A (p.Arg179His) GRCh37: Chr10:90701066 GRCh38: Chr10:88941309	ACTA2	R179H, R142H, R136H	Moyamoya disease 5, Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6, not provided, Familial thoracic aortic aneurysm and aortic dissection, Moyamoya disease 5, Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6	Pathogenic (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9119563.	NM_001613.4(ACTA2):c.535C>A (p.Arg179Ser) GRCh37: Chr10:90701067 GRCh38: Chr10:88941310	ACTA2	R142S, R136S	Multisystemic smooth muscle dysfunction syndrome	Pathogenic (May 27, 2020)	no assertion criteria provided
Select item 2650264.	NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys) GRCh37: Chr10:90701067 GRCh38: Chr10:88941310	ACTA2	R179C, R136C, R142C	Multisystemic smooth muscle dysfunction syndrome, Familial aortopathy, Aortic aneurysm, familial thoracic 6, not provided	Pathogenic (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16932785.	NM_001613.4(ACTA2):c.454+1del GRCh37: Chr10:90701541 GRCh38: Chr10:88941784	ACTA2		Descending aortic dissection	Pathogenic	criteria provided, single submitter
Select item 1996716.	NM_001613.4(ACTA2):c.446G>T (p.Arg149Leu) GRCh37: Chr10:90701550 GRCh38: Chr10:88941793	ACTA2	R149L, R106L, R112L	not provided	Likely pathogenic (Dec 15, 2016)	criteria provided, single submitter
Select item 182767.	NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys) GRCh37: Chr10:90701551 GRCh38: Chr10:88941794	ACTA2	R149C, R106C, R112C	Aortic aneurysm, familial thoracic 6, not provided, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20322188.	NM_001613.4(ACTA2):c.369+1G>C GRCh37: Chr10:90703553 GRCh38: Chr10:88943796	ACTA2		Aortic aneurysm, familial thoracic 6	Pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 1996709.	NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) GRCh37: Chr10:90703570 GRCh38: Chr10:88943813	ACTA2	R118Q, R75Q	Aortic aneurysm, familial thoracic 6, Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease 5, not provided, Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132839610.	NM_001613.4(ACTA2):c.340_343del (p.Pro114fs) GRCh37: Chr10:90703580-90703583 GRCh38: Chr10:88943823-88943826	ACTA2	P114fs	Aortic aneurysm, familial thoracic 6	Likely pathogenic	no assertion criteria provided
Select item 167656911.	NM_001613.4(ACTA2):c.325del (p.Glu109fs) GRCh37: Chr10:90703598 GRCh38: Chr10:88943841	ACTA2	E109fs	Aortic aneurysm, familial thoracic 6	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 244165212.	NM_001613.4(ACTA2):c.259-1G>C GRCh37: Chr10:90703665 GRCh38: Chr10:88943908	ACTA2		Aortic aneurysm, familial thoracic 6	Likely pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 41799713.	NM_001613.4(ACTA2):c.226G>A (p.Gly76Ser) GRCh37: Chr10:90707047 GRCh38: Chr10:88947290	ACTA2	G76S	not provided	Likely pathogenic (Dec 24, 2014)	criteria provided, single submitter
Select item 51957614.	NM_001613.4(ACTA2):c.146T>C (p.Met49Thr) GRCh37: Chr10:90707127 GRCh38: Chr10:88947370	ACTA2	M49T	Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6	Likely pathogenic (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6545015.	NM_001613.4(ACTA2):c.145A>G (p.Met49Val) GRCh37: Chr10:90707128 GRCh38: Chr10:88947371	ACTA2	M49V	Aortic aneurysm, familial thoracic 6	Pathogenic (May 1, 2011)	no assertion criteria provided
Select item 66401716.	NM_001613.4(ACTA2):c.138G>T (p.Met46Ile) GRCh37: Chr10:90707135 GRCh38: Chr10:88947378	ACTA2	M46I	not provided, Aortic aneurysm, familial thoracic 6	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43263917.	NM_001613.4(ACTA2):c.137T>G (p.Met46Arg) GRCh37: Chr10:90707136 GRCh38: Chr10:88947379	ACTA2	M46R	not provided	Likely pathogenic (Jul 19, 2017)	criteria provided, single submitter
Select item 19966618.	NM_001613.4(ACTA2):c.116G>A (p.Arg39His) GRCh37: Chr10:90708572 GRCh38: Chr10:88948815	ACTA2	R39H	Familial aortopathy, Familial thoracic aortic aneurysm and aortic dissection, not provided, Aortic aneurysm, familial thoracic 6	Pathogenic/Likely pathogenic (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106638419.	NM_001613.4(ACTA2):c.115C>A (p.Arg39Ser) GRCh37: Chr10:90708573 GRCh38: Chr10:88948816	ACTA2	R39S	Aortic aneurysm, familial thoracic 6	Likely pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 19966520.	NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly) GRCh37: Chr10:90708573 GRCh38: Chr10:88948816	ACTA2	R39G	not provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6	Pathogenic/Likely pathogenic (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6544921.	NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) GRCh37: Chr10:90708573 GRCh38: Chr10:88948816	ACTA2	R39C	Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6, See cases, not provided	Pathogenic/Likely pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105406722.	NM_001613.4(ACTA2):c.55T>C (p.Cys19Arg) GRCh37: Chr10:90708633 GRCh38: Chr10:88948876	ACTA2	C19R	Aortic aneurysm, familial thoracic 6	Likely pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 53691523.	NM_001613.4(ACTA2):c.46T>C (p.Ser16Pro) GRCh37: Chr10:90708642 GRCh38: Chr10:88948885	ACTA2	S16P	Aortic aneurysm, familial thoracic 6	Likely pathogenic (Aug 27, 2021)	criteria provided, single submitter

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Items: 23