Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs121918492
rs121918492
FGFR2
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
FGFR2
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
FGFR2
0.810 GeneticVariation UNIPROT Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994
dbSNP: rs121918492
rs121918492
FGFR2
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
FGFR2
0.810 GeneticVariation UNIPROT Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 8528214

1995
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: rs121918492
rs121918492
FGFR2
C 0.810 CausalMutation CLINVAR

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: rs121918497
rs121918497
FGFR2
0.800 GeneticVariation UNIPROT Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994
dbSNP: rs121918497
rs121918497
FGFR2
0.800 GeneticVariation UNIPROT Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 8528214

1995
dbSNP: rs121918497
rs121918497
FGFR2
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918497
rs121918497
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: rs121918497
rs121918497
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: rs121918497
rs121918497
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: rs776587763
rs776587763
FGFR2
0.800 GeneticVariation UNIPROT Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. 9385368

1997