Gene: FGFR2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918492
rs121918492
FGFR2
C 0.810 CausalMutation CLINVAR

dbSNP: rs776587763
rs776587763
FGFR2
A 0.800 CausalMutation CLINVAR Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing. 25361936

2014
dbSNP: rs776587763
rs776587763
FGFR2
A 0.800 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274

2013
dbSNP: rs776587763
rs776587763
FGFR2
A 0.800 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
dbSNP: rs776587763
rs776587763
FGFR2
A 0.800 CausalMutation CLINVAR Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis. 10874645

1999
dbSNP: rs776587763
rs776587763
FGFR2
A 0.800 CausalMutation CLINVAR Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462

1995
dbSNP: rs121918488
rs121918488
FGFR2
T 0.800 CausalMutation CLINVAR

dbSNP: rs121918488
rs121918488
FGFR2
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918497
rs121918497
FGFR2
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. 27028366

2016
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085

2015
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis. 17693524

2007
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. 16418739

2006
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Screening of patients with craniosynostosis: molecular strategy. 12884424

2003
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845

2000
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras. 8755573

1996
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462

1995
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R). 8528214

1995
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Steroids in multiple sclerosis. 7989400

1994
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085

2015
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation. 22558232

2012
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate. 20133659

2010