Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918492
rs121918492
FGFR2
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: rs121918490
rs121918490
FGFR2
0.710 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: 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: 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: 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: rs121918492
rs121918492
FGFR2
C 0.810 CausalMutation CLINVAR

dbSNP: rs121909627
rs121909627
FGFR1
C 0.800 CausalMutation CLINVAR

dbSNP: rs121918488
rs121918488
FGFR2
T 0.800 CausalMutation CLINVAR

dbSNP: rs121918488
rs121918488
FGFR2
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918497
rs121918497
FGFR2
G 0.800 CausalMutation CLINVAR

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

1999
dbSNP: rs776587763
rs776587763
FGFR2
A 0.800 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274

2013
dbSNP: rs776587763
rs776587763
FGFR2
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: rs776587763
rs776587763
FGFR2
A 0.800 CausalMutation CLINVAR Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462

1995
dbSNP: rs776587763
rs776587763
FGFR2
A 0.800 CausalMutation CLINVAR Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing. 25361936

2014
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
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Steroids in multiple sclerosis. 7989400

1994
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845

2000
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462

1995