Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918492
rs121918492
0.810 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998

dbSNP: rs121918492
rs121918492
0.810 GeneticVariation UNIPROT Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. 9385368

1997

dbSNP: rs121918492
rs121918492
0.810 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: rs121918492
rs121918492
0.810 GeneticVariation UNIPROT Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 8528214

1995

dbSNP: rs121918492
rs121918492
0.810 GeneticVariation BEFREE We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G; Ala344Gly) that is identical to the mutation previously associated with Jackson-Weiss syndrome. 7581378

1995

dbSNP: rs121918492
rs121918492
0.810 GeneticVariation UNIPROT Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994

dbSNP: rs121918492
rs121918492
C 0.810 CausalMutation CLINVAR

dbSNP: rs776587763
rs776587763
A 0.800 CausalMutation CLINVAR Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing. 25361936

2014

dbSNP: rs776587763
rs776587763
A 0.800 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274

2013

dbSNP: rs776587763
rs776587763
A 0.800 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013

dbSNP: rs121909627
rs121909627
0.800 GeneticVariation UNIPROT Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 10861678

2000

dbSNP: rs776587763
rs776587763
A 0.800 CausalMutation CLINVAR Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis. 10874645

1999

dbSNP: rs121918488
rs121918488
0.800 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998

dbSNP: rs121918497
rs121918497
0.800 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998

dbSNP: rs776587763
rs776587763
0.800 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998

dbSNP: rs121918488
rs121918488
0.800 GeneticVariation UNIPROT Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. 9385368

1997

dbSNP: rs121918497
rs121918497
0.800 GeneticVariation UNIPROT Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. 9385368

1997

dbSNP: rs776587763
rs776587763
0.800 GeneticVariation UNIPROT Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. 9385368

1997

dbSNP: rs121918488
rs121918488
0.800 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: rs121918497
rs121918497
0.800 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: rs776587763
rs776587763
0.800 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: rs121918488
rs121918488
0.800 GeneticVariation UNIPROT In addition, the Jackson-Weiss syndrome mutation, C342R, in exon IIIc was observed previously in other craniosynostotic syndromes, Crouzon and Pfeiffer. 8528214

1995

dbSNP: rs121918497
rs121918497
0.800 GeneticVariation UNIPROT Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 8528214

1995

dbSNP: rs776587763
rs776587763
0.800 GeneticVariation UNIPROT Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 8528214

1995

dbSNP: rs776587763
rs776587763
A 0.800 CausalMutation CLINVAR Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462

1995