Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918502
rs121918502
0.820 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: rs121918502
rs121918502
0.820 GeneticVariation UNIPROT A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937

2007

dbSNP: rs121918502
rs121918502
0.820 GeneticVariation UNIPROT Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F. 16844695

2006

dbSNP: rs121918502
rs121918502
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

dbSNP: rs121918502
rs121918502
0.820 GeneticVariation UNIPROT Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. 10945669

2000

dbSNP: rs121918502
rs121918502
0.820 GeneticVariation UNIPROT Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845

2000

dbSNP: rs121918502
rs121918502
0.820 GeneticVariation UNIPROT Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 10394936

1999

dbSNP: rs121918502
rs121918502
0.820 GeneticVariation UNIPROT Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. 9719378

1998

dbSNP: rs121918502
rs121918502
0.820 GeneticVariation BEFREE The mutation identified in our patient, Ser351Cys in FGFR2, represents the first reported cause of Pfeiffer syndrome type III. 9714439

1998

dbSNP: rs121918502
rs121918502
0.820 GeneticVariation UNIPROT Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene. 9693549

1998

dbSNP: rs121918502
rs121918502
0.820 GeneticVariation UNIPROT Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682

1997

dbSNP: rs121918502
rs121918502
0.820 GeneticVariation UNIPROT Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. 9150725

1997

dbSNP: rs121918502
rs121918502
0.820 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: rs121918502
rs121918502
0.820 GeneticVariation UNIPROT FGFR2 mutations in Pfeiffer syndrome. 7719333

1995

dbSNP: rs121918502
rs121918502
0.820 GeneticVariation UNIPROT Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 7719345

1995

dbSNP: rs121918502
rs121918502
C 0.820 CausalMutation CLINVAR