Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777384
rs587777384
ACTG2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation. 28383543

2017
dbSNP: rs587777384
rs587777384
ACTG2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. 26669664

2016
dbSNP: rs587777384
rs587777384
ACTG2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution. 25782675

2015
dbSNP: rs587777384
rs587777384
ACTG2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. 24676022

2014
dbSNP: rs587777384
rs587777384
ACTG2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. 24337657

2014
dbSNP: rs587777384
rs587777384
ACTG2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy. 22960657

2012
dbSNP: rs587777384
rs587777384
ACTG2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle. 19098683

2009