rs397515470
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
T
0.700
CausalMutation
CLINVAR
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
25052316
2015
rs587779769
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
A
0.700
CausalMutation
CLINVAR
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
25052316
2015
rs587779770
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
T
0.700
CausalMutation
CLINVAR
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
25052316
2015
rs587779771
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
G
0.700
CausalMutation
CLINVAR
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
25052316
2015
rs587779773
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
G
0.700
CausalMutation
CLINVAR
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
25052316
2015
rs587779774
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
A
0.700
CausalMutation
CLINVAR
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
25052316
2015
rs587779775
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
A
0.700
CausalMutation
CLINVAR
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
25052316
2015
rs587779776
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
C
0.700
CausalMutation
CLINVAR
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
25052316
2015
rs587779777
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
T
0.700
CausalMutation
CLINVAR
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
25052316
2015
rs587779777
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
T
0.700
GeneticVariation
CLINVAR
rs587780273
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
T
0.700
GeneticVariation
CLINVAR
rs765265404
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
A
0.700
CausalMutation
CLINVAR
rs765265404
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Poor school performance
A
0.700
CausalMutation
CLINVAR
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Multiple congenital anomalies
C
0.700
GeneticVariation
CLINVAR
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
22366783
2012
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Multiple congenital anomalies
C
0.700
GeneticVariation
CLINVAR
Clinical and molecular characterization of a second case of 7p22.1 microduplication.
22495914
2012
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Multiple congenital anomalies
C
0.700
GeneticVariation
CLINVAR
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
25052316
2015
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Multiple congenital anomalies
C
0.700
GeneticVariation
CLINVAR
Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.
25156961
2015
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
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
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
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
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
25052316
2015
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.
23756437
2014
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Multiple congenital anomalies
C
0.700
GeneticVariation
CLINVAR
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
27240540
2016
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.
27868373
2017
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
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
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
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