Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918499
rs121918499
0.840 GeneticVariation BEFREE A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality. 29915381

2019

dbSNP: rs121918499
rs121918499
0.840 GeneticVariation BEFREE To report a case of a child with Pfeiffer syndrome, unique ocular anterior segment findings and a mutation in FGFR2 (Trp290Cys). 20809772

2010

dbSNP: rs121918499
rs121918499
0.840 GeneticVariation UNIPROT A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937

2007

dbSNP: rs121918499
rs121918499
0.840 GeneticVariation UNIPROT Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F. 16844695

2006

dbSNP: rs121918499
rs121918499
0.840 GeneticVariation BEFREE Interestingly, two FGFR2 mutations creating cysteine residues (W290C and Y340C) caused severe forms of PS while conversion of the same residues into another amino-acid (W290G/R, Y340H) resulted in Crouzon phenotype exclusively. 16418739

2006

dbSNP: rs121918499
rs121918499
0.840 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002

dbSNP: rs121918499
rs121918499
0.840 GeneticVariation UNIPROT Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845

2000

dbSNP: rs121918499
rs121918499
0.840 GeneticVariation UNIPROT Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. 10945669

2000

dbSNP: rs121918499
rs121918499
0.840 GeneticVariation UNIPROT Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 10394936

1999

dbSNP: rs121918499
rs121918499
0.840 GeneticVariation UNIPROT Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. 9719378

1998

dbSNP: rs121918499
rs121918499
0.840 GeneticVariation UNIPROT Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene. 9693549

1998

dbSNP: rs121918499
rs121918499
0.840 GeneticVariation BEFREE Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. 9150725

1997

dbSNP: rs121918499
rs121918499
0.840 GeneticVariation UNIPROT Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. 9150725

1997

dbSNP: rs121918499
rs121918499
0.840 GeneticVariation UNIPROT Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682

1997

dbSNP: rs121918499
rs121918499
0.840 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: rs121918499
rs121918499
0.840 GeneticVariation UNIPROT Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 7719345

1995

dbSNP: rs121918499
rs121918499
0.840 GeneticVariation UNIPROT FGFR2 mutations in Pfeiffer syndrome. 7719333

1995

dbSNP: rs121918499
rs121918499
G 0.840 CausalMutation CLINVAR

dbSNP: rs121918499
rs121918499
A 0.840 CausalMutation CLINVAR