Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769182426
rs769182426
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 27868373

2017
dbSNP: rs769182426
rs769182426
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540

2016
dbSNP: rs769182426
rs769182426
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316

2015
dbSNP: rs769182426
rs769182426
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. 25156961

2015
dbSNP: rs769182426
rs769182426
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 23756437

2014
dbSNP: rs769182426
rs769182426
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 23649928

2013
dbSNP: rs769182426
rs769182426
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of a second case of 7p22.1 microduplication. 22495914

2012
dbSNP: rs769182426
rs769182426
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783

2012
dbSNP: rs769182426
rs769182426
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646

2006
dbSNP: rs769182426
rs769182426
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 10411937

1999