Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519044
rs1057519044
FGFR2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121909627
rs121909627
FGFR1
C 0.800 CausalMutation CLINVAR

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

2000
dbSNP: rs121909641
rs121909641
FGFR1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121913478
rs121913478
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085

2015
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate. 20133659

2010
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras. 8755573

1996
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994
dbSNP: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation. 22558232

2012
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR First-trimester prenatal diagnosis of Crouzon syndrome. 8650126

1996
dbSNP: rs121918487
rs121918487
FGFR2
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis. 15316116

2004
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
dbSNP: rs121918488
rs121918488
FGFR2
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
FGFR2
T 0.800 CausalMutation CLINVAR

dbSNP: rs121918488
rs121918488
FGFR2
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918488
rs121918488
FGFR2
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
FGFR2
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
FGFR2
0.800 GeneticVariation UNIPROT Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994
dbSNP: rs121918488
rs121918488
FGFR2
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: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR 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: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085

2015
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras. 8755573

1996