Gene: FGFR2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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: 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 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 Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. 24656465

2014
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 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 Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998
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
dbSNP: rs1057519044
rs1057519044
FGFR2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913478
rs121913478
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
T 0.710 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
0.710 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: rs121918488
rs121918488
FGFR2
0.010 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: 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: rs121918497
rs121918497
FGFR2
0.010 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: 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