rs137853266
|
|
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 |
rs137853266
|
|
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 |
rs137853266
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.
|
11940089 |
2002 |
rs137853266
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.
|
16688726 |
2006 |
rs137853266
|
|
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 |
rs137853266
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
|
14560308 |
2004 |
rs137853266
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
|
22211847 |
2012 |
rs137853266
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
|
20082460 |
2010 |
rs137853266
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor.
|
8969170 |
1996 |
rs137853266
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.
|
16353258 |
2006 |
rs137853266
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).
|
15809997 |
2005 |
rs1557189252
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1557189592
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.
|
11940089 |
2002 |
rs1557189592
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
|
20082460 |
2010 |
rs1557189592
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.
|
16353258 |
2006 |
rs1557189592
|
|
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
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).
|
15809997 |
2005 |
rs1557189592
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
|
22211847 |
2012 |
rs1557189592
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
|
14560308 |
2004 |
rs1557189592
|
|
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
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor.
|
8969170 |
1996 |
rs1557189592
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.
|
16688726 |
2006 |
rs1557189592
|
|
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 |