Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853266
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

dbSNP: rs1557189592
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

dbSNP: rs137853266
rs137853266
T 0.700 GeneticVariation CLINVAR Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. 22211847

2012

dbSNP: rs1557189592
rs1557189592
A 0.700 CausalMutation CLINVAR Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. 22211847

2012

dbSNP: rs137853266
rs137853266
T 0.700 GeneticVariation CLINVAR Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. 20082460

2010

dbSNP: rs1557189592
rs1557189592
A 0.700 CausalMutation CLINVAR Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. 20082460

2010

dbSNP: rs137853266
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

dbSNP: rs1557189592
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

dbSNP: rs137853266
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

dbSNP: rs1557189592
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

dbSNP: rs137853266
rs137853266
T 0.700 GeneticVariation CLINVAR Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. 16688726

2006

dbSNP: rs137853266
rs137853266
T 0.700 GeneticVariation CLINVAR Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. 16353258

2006

dbSNP: rs1557189592
rs1557189592
A 0.700 CausalMutation CLINVAR Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. 16353258

2006

dbSNP: rs1557189592
rs1557189592
A 0.700 CausalMutation CLINVAR Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. 16688726

2006

dbSNP: rs137853266
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

dbSNP: rs1557189592
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

dbSNP: rs137853266
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

dbSNP: rs1557189592
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

dbSNP: rs137853266
rs137853266
T 0.700 GeneticVariation CLINVAR Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. 11940089

2002

dbSNP: rs1557189592
rs1557189592
A 0.700 CausalMutation CLINVAR Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. 11940089

2002

dbSNP: rs137853266
rs137853266
T 0.700 GeneticVariation CLINVAR The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. 8969170

1996

dbSNP: rs1557189592
rs1557189592
A 0.700 CausalMutation CLINVAR The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. 8969170

1996

dbSNP: rs1557189252
rs1557189252
A 0.700 GeneticVariation CLINVAR