rs137853266
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.
24307393
2014
rs1557189592
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.
24307393
2014
rs1557189592
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.
24307393
2014
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.
24307393
2014
rs137853266
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
22211847
2012
rs1557189592
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
22211847
2012
rs1557189592
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
22211847
2012
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
22211847
2012
rs137853264
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Aarskog syndrome
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
21654724
2011
rs28935497
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Aarskog syndrome
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
21654724
2011
rs137853266
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
20082460
2010
rs1557189592
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
20082460
2010
rs1557189592
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
20082460
2010
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
20082460
2010
rs137853266
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
19110080
2009
rs1557189592
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
19110080
2009
rs1557189592
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
19110080
2009
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
19110080
2009
rs137853267
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Polymicrogyria
0.010
GeneticVariation
BEFREE
M466V was not found in healthy family members, in >300 healthy controls and AAS patients, and has not been reported in the literature or mutation databases to date, indicating that this novel missense mutation causes AAS, and possibly PMG .
17847065
2007
rs137853266
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.
17152066
2007
rs1557189592
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.
17152066
2007
rs1557189592
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.
17152066
2007
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.
17152066
2007
rs137853266
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.
16688726
2006
rs1557189592
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.
16688726
2006