Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057521105
rs1057521105
ACTA2 ; STAMBPL1
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs1554841298
rs1554841298
ACTA2 ; STAMBPL1
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs777832794
rs777832794
ACTA2 ; STAMBPL1 ; ACTA2-AS1
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs886039303
rs886039303
ACTA2 ; STAMBPL1
A 0.700 CausalMutation CLINVAR Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings. 27567161

2017
dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
C 0.700 GeneticVariation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016
dbSNP: rs886039303
rs886039303
ACTA2 ; STAMBPL1
A 0.700 CausalMutation CLINVAR Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. 27481187

2016
dbSNP: rs1057521105
rs1057521105
ACTA2 ; STAMBPL1
0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
A 0.700 CausalMutation CLINVAR Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients. 25644172

2015
dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
C 0.700 GeneticVariation CLINVAR Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 25759435

2015
dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
C 0.700 GeneticVariation CLINVAR Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients. 25644172

2015
dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
A 0.700 CausalMutation CLINVAR Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 25759435

2015
dbSNP: rs1554841298
rs1554841298
ACTA2 ; STAMBPL1
0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.700 CausalMutation CLINVAR Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. 25944730

2015
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.700 CausalMutation CLINVAR Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy. 26034244

2015
dbSNP: rs777832794
rs777832794
ACTA2 ; STAMBPL1 ; ACTA2-AS1
0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs886039303
rs886039303
ACTA2 ; STAMBPL1
A 0.700 CausalMutation CLINVAR Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 25759435

2015
dbSNP: rs1057521105
rs1057521105
ACTA2 ; STAMBPL1
0.700 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014
dbSNP: rs1057521105
rs1057521105
ACTA2 ; STAMBPL1
0.700 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014
dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
C 0.700 GeneticVariation CLINVAR Acute aortic dissections with pregnancy in women with ACTA2 mutations. 24243736

2014
dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
A 0.700 CausalMutation CLINVAR Acute aortic dissections with pregnancy in women with ACTA2 mutations. 24243736

2014
dbSNP: rs1554841298
rs1554841298
ACTA2 ; STAMBPL1
0.700 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014
dbSNP: rs1554841298
rs1554841298
ACTA2 ; STAMBPL1
0.700 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.700 CausalMutation CLINVAR Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. 24621862

2014
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.700 CausalMutation CLINVAR Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. 24998021

2014
dbSNP: rs777832794
rs777832794
ACTA2 ; STAMBPL1 ; ACTA2-AS1
0.700 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014