Gene: FGFR2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918501
rs121918501
FGFR2
0.830 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: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation BEFREE The Fgfr2 ( W290R ) mouse model can be used as a model system to further investigate the cellular, molecular, and biochemical mechanisms of Crouzon syndrome. 22872266

2012
dbSNP: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937

2007
dbSNP: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002
dbSNP: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients. 11380921

2001
dbSNP: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845

2000
dbSNP: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance. 10574673

1999
dbSNP: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998
dbSNP: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. 9521581

1998
dbSNP: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. 9152842

1997
dbSNP: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. 8946174

1996
dbSNP: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. 8644708

1996
dbSNP: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene. 8956050

1996
dbSNP: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation BEFREE 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: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. 7581378

1995
dbSNP: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT 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: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462

1995
dbSNP: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994
dbSNP: rs121918501
rs121918501
FGFR2
0.830 GeneticVariation UNIPROT Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994
dbSNP: rs121918501
rs121918501
FGFR2
G 0.830 CausalMutation CLINVAR

dbSNP: rs121918501
rs121918501
FGFR2
C 0.830 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
0.820 GeneticVariation UNIPROT A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937

2007
dbSNP: rs121918496
rs121918496
FGFR2
0.820 GeneticVariation UNIPROT A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937

2007
dbSNP: rs121918487
rs121918487
FGFR2
0.820 GeneticVariation BEFREE Skulls of Fgfr2(C342Y/+) mice differ from normal littermates in a comparable manner with differences between the skulls of humans with Crouzon syndrome and those of unaffected individuals. 17105336

2006
dbSNP: rs121918487
rs121918487
FGFR2
0.820 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002