Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517065
rs397517065
ACTC1 ; LOC101928174
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect. 27139165

2016
dbSNP: rs397517065
rs397517065
ACTC1 ; LOC101928174
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect. 24461919

2014
dbSNP: rs397517065
rs397517065
ACTC1 ; LOC101928174
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012
dbSNP: rs397517065
rs397517065
ACTC1 ; LOC101928174
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Alpha-cardiac actin mutations produce atrial septal defects. 17947298

2008
dbSNP: rs397517065
rs397517065
ACTC1 ; LOC101928174
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 17611253

2007
dbSNP: rs397517065
rs397517065
ACTC1 ; LOC101928174
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR