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
0.900 GeneticVariation UNIPROT Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome. 9452027

1998
dbSNP: rs77543610
rs77543610
FGFR2
0.900 GeneticVariation UNIPROT Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. 7668257

1995
dbSNP: rs77543610
rs77543610
FGFR2
0.900 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002
dbSNP: rs77543610
rs77543610
FGFR2
0.900 GeneticVariation UNIPROT 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: rs77543610
rs77543610
FGFR2
0.900 GeneticVariation UNIPROT Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation. 15190072

2004
dbSNP: rs77543610
rs77543610
FGFR2
0.900 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998
dbSNP: rs77543610
rs77543610
FGFR2
0.900 GeneticVariation UNIPROT 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: rs77543610
rs77543610
FGFR2
0.900 GeneticVariation UNIPROT In Apert syndrome, characterised by syndactyly of the hands and feet, recurrent mutations of a serine-proline dipeptide (either Ser252Trp or Pro253Arg) in the linker between the IgII and IgIII extracellular immunoglobulin-like domains, have been documented in more than 160 unrelated individuals. 9002682

1997
dbSNP: rs121918498
rs121918498
FGFR2
0.810 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002
dbSNP: rs121918498
rs121918498
FGFR2
0.810 GeneticVariation UNIPROT Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome. 9452027

1998
dbSNP: rs121918498
rs121918498
FGFR2
0.810 GeneticVariation UNIPROT Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation. 15190072

2004
dbSNP: rs121918498
rs121918498
FGFR2
0.810 GeneticVariation UNIPROT The observation that the Ser252Phe mutation causes Apert syndrome, whereas the other single or double substitutions are associated with milder or normal phenotypes, highlights the exquisitely specific molecular pathogenesis of the limb and craniofacial abnormalities associated with Apert syndrome. 9002682

1997
dbSNP: rs121918498
rs121918498
FGFR2
0.810 GeneticVariation UNIPROT Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. 11390973

2001
dbSNP: rs121918498
rs121918498
FGFR2
0.810 GeneticVariation UNIPROT Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. 7668257

1995
dbSNP: rs121918498
rs121918498
FGFR2
0.810 GeneticVariation UNIPROT Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. 7719344

1995
dbSNP: rs121918498
rs121918498
FGFR2
0.810 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998
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 GeneticVariation CLINVAR

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