Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918494
rs121918494
FGFR2
0.010 GeneticVariation BEFREE Notably, we found a novel FGFR2 p.Asn549Thr mutation in a patient with CS, and a novel FGFR2 p.Ser347Cys mutation in a patient with JWS (thus, this patient was turned out to have an FGFR2-related PS-variant). 27683237

2017
dbSNP: rs747976513
rs747976513
FGFR1
0.010 GeneticVariation BEFREE Notably, we found a novel FGFR2 p.Asn549Thr mutation in a patient with CS, and a novel FGFR2 p.Ser347Cys mutation in a patient with JWS (thus, this patient was turned out to have an FGFR2-related PS-variant). 27683237

2017
dbSNP: rs777169135
rs777169135
FGFR2
0.010 GeneticVariation BEFREE Notably, we found a novel FGFR2 p.Asn549Thr mutation in a patient with CS, and a novel FGFR2 p.Ser347Cys mutation in a patient with JWS (thus, this patient was turned out to have an FGFR2-related PS-variant). 27683237

2017
dbSNP: rs121918496
rs121918496
FGFR2
0.010 GeneticVariation BEFREE 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: rs121918501
rs121918501
FGFR2
0.010 GeneticVariation BEFREE 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: 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 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
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 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 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 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 First-trimester prenatal diagnosis of Crouzon syndrome. 8650126

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: rs1057519044
rs1057519044
FGFR2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121909641
rs121909641
FGFR1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121913478
rs121913478
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1434545235
rs1434545235
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs79184941
rs79184941
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. 27028366

2016
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