Gene: FGFR2 ×
Source: INFERRED ×
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 GeneticVariation CLINVAR

dbSNP: rs121918498
rs121918498
FGFR2
AA 0.810 CausalMutation CLINVAR

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 Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. 11121055

2000
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 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 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 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: 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: rs121918487
rs121918487
FGFR2
T 0.710 CausalMutation CLINVAR

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 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 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: rs1057519036
rs1057519036
FGFR2
C 0.700 GeneticVariation CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002
dbSNP: rs1057519036
rs1057519036
FGFR2
C 0.700 GeneticVariation CLINVAR The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. 9521581

1998
dbSNP: rs1057519036
rs1057519036
FGFR2
C 0.700 GeneticVariation CLINVAR Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 10394936

1999
dbSNP: rs1057519036
rs1057519036
FGFR2
C 0.700 GeneticVariation CLINVAR Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. 24656465

2014
dbSNP: rs1057519036
rs1057519036
FGFR2
C 0.700 GeneticVariation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
dbSNP: rs1057519036
rs1057519036
FGFR2
C 0.700 GeneticVariation CLINVAR Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130

2000
dbSNP: rs1057519043
rs1057519043
FGFR2
T 0.700 GeneticVariation CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002
dbSNP: rs1057519043
rs1057519043
FGFR2
T 0.700 GeneticVariation CLINVAR Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. 7581378

1995
dbSNP: rs1057519043
rs1057519043
FGFR2
T 0.700 GeneticVariation CLINVAR Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. 29037998

2018