Gene: ACTB ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894003
rs104894003
ACTB
A 0.700 GeneticVariation CLINVAR Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 27868373

2017
dbSNP: rs1554329552
rs1554329552
ACTB
C 0.700 CausalMutation CLINVAR Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 27868373

2017
dbSNP: rs769182426
rs769182426
ACTB
C 0.700 GeneticVariation CLINVAR Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 27868373

2017
dbSNP: rs797044950
rs797044950
ACTB
C 0.700 CausalMutation CLINVAR Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 27868373

2017
dbSNP: rs104894003
rs104894003
ACTB
A 0.700 GeneticVariation CLINVAR Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540

2016
dbSNP: rs1554329552
rs1554329552
ACTB
C 0.700 CausalMutation CLINVAR Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540

2016
dbSNP: rs769182426
rs769182426
ACTB
C 0.700 GeneticVariation CLINVAR Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540

2016
dbSNP: rs797044950
rs797044950
ACTB
C 0.700 CausalMutation CLINVAR Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540

2016
dbSNP: rs104894003
rs104894003
ACTB
A 0.700 GeneticVariation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316

2015
dbSNP: rs104894003
rs104894003
ACTB
A 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. 25156961

2015
dbSNP: rs1554329552
rs1554329552
ACTB
C 0.700 CausalMutation CLINVAR Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. 25156961

2015
dbSNP: rs1554329552
rs1554329552
ACTB
C 0.700 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316

2015
dbSNP: rs769182426
rs769182426
ACTB
C 0.700 GeneticVariation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316

2015
dbSNP: rs769182426
rs769182426
ACTB
C 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. 25156961

2015
dbSNP: rs797044950
rs797044950
ACTB
C 0.700 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316

2015
dbSNP: rs797044950
rs797044950
ACTB
C 0.700 CausalMutation CLINVAR Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. 25156961

2015
dbSNP: rs104894003
rs104894003
ACTB
A 0.700 GeneticVariation CLINVAR Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 23756437

2014
dbSNP: rs1554329552
rs1554329552
ACTB
C 0.700 CausalMutation CLINVAR Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 23756437

2014
dbSNP: rs769182426
rs769182426
ACTB
C 0.700 GeneticVariation CLINVAR Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 23756437

2014
dbSNP: rs797044950
rs797044950
ACTB
C 0.700 CausalMutation CLINVAR Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 23756437

2014
dbSNP: rs104894003
rs104894003
ACTB
A 0.700 GeneticVariation CLINVAR Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 23649928

2013
dbSNP: rs1554329552
rs1554329552
ACTB
C 0.700 CausalMutation CLINVAR Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 23649928

2013
dbSNP: rs769182426
rs769182426
ACTB
C 0.700 GeneticVariation CLINVAR Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 23649928

2013
dbSNP: rs797044950
rs797044950
ACTB
C 0.700 CausalMutation CLINVAR Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 23649928

2013
dbSNP: rs104894003
rs104894003
ACTB
A 0.700 GeneticVariation CLINVAR De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783

2012