Gene: FGFR2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77543610
rs77543610
FGFR2
C 0.900 CausalMutation CLINVAR We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. 7719344

1995
dbSNP: rs121918498
rs121918498
FGFR2
AA 0.810 CausalMutation CLINVAR

dbSNP: rs79184941
rs79184941
FGFR2
C 0.800 CausalMutation CLINVAR Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. 11121055

2000
dbSNP: rs79184941
rs79184941
FGFR2
C 0.800 CausalMutation CLINVAR Here we show that mutant mice carrying the activation mutation, Ser252Trp [corrected] which corresponds to Ser252Trp in human FGFR2, have malformations mimicking the skull abnormalities found in AS patients. 14499350

2003
dbSNP: rs79184941
rs79184941
FGFR2
C 0.800 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986

2015
dbSNP: rs79184941
rs79184941
FGFR2
C 0.800 CausalMutation CLINVAR We utilized a Fgfr2(+/S252W) mouse (a knock-in mouse model mimicking human AS) to demonstrate decreased bone mass due to reduced trabecular bone volume, reduced bone mineral density, and shortened growth plates in the long bones. 24489893

2014
dbSNP: rs79184941
rs79184941
FGFR2
C 0.800 CausalMutation CLINVAR We report two Indonesian patients with AS, in whom molecular analysis detected p.Ser252Trp (c.755C>G) and p.Pro253Arg (c.758C>G) mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, respectively. 23546041

2013
dbSNP: rs79184941
rs79184941
FGFR2
C 0.800 CausalMutation CLINVAR Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS. 11390973

2001
dbSNP: rs79184941
rs79184941
FGFR2
C 0.800 CausalMutation CLINVAR Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. 15975938

2005
dbSNP: rs79184941
rs79184941
FGFR2
C 0.800 CausalMutation CLINVAR We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. 7719344

1995
dbSNP: rs121918487
rs121918487
FGFR2
T 0.710 CausalMutation CLINVAR

dbSNP: rs121918502
rs121918502
FGFR2
C 0.710 CausalMutation CLINVAR Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. 8946174

1996
dbSNP: rs121918502
rs121918502
FGFR2
C 0.710 CausalMutation CLINVAR Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 10406670

1999
dbSNP: rs121918502
rs121918502
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: rs121918502
rs121918502
FGFR2
C 0.710 CausalMutation CLINVAR Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. 18391498

2008
dbSNP: rs121913478
rs121913478
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918494
rs121918494
FGFR2
C 0.700 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274

2013
dbSNP: rs121918494
rs121918494
FGFR2
C 0.700 CausalMutation CLINVAR Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994
dbSNP: rs121918494
rs121918494
FGFR2
C 0.700 CausalMutation CLINVAR Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. 27683237

2017
dbSNP: rs1434545235
rs1434545235
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs387907372
rs387907372
FGFR2
AAG 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
0.900 GeneticVariation BEFREE We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys). 24656465

2014
dbSNP: rs77543610
rs77543610
FGFR2
0.900 GeneticVariation BEFREE The FGFR2 exon 7 sequencing showed the classical Apert syndrome c.758C > G transversion (p.Pro253Arg). 17243131

2008