Gene: FGFR1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909627
rs121909627
FGFR1
C 0.850 CausalMutation CLINVAR Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 25251565

2014
dbSNP: rs121909627
rs121909627
FGFR1
C 0.850 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
FGFR1
C 0.850 CausalMutation CLINVAR Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population. 24497711

2013
dbSNP: rs121909627
rs121909627
FGFR1
C 0.850 CausalMutation CLINVAR We report a four-generation family with an FGFR1 P252R mutation, who have typical hand and feet skeletal features of Pfeiffer syndrome without craniofacial involvement. 16957473

2006
dbSNP: rs121909627
rs121909627
FGFR1
C 0.850 CausalMutation CLINVAR However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10. 14613973

2004
dbSNP: rs121909627
rs121909627
FGFR1
C 0.850 CausalMutation CLINVAR We report four new affected families showing an FGFR1 P252R mutation and emphasize the characteristic malformations of the feet in this form of Pfeiffer syndrome. 14564217

2003
dbSNP: rs121909627
rs121909627
FGFR1
C 0.850 CausalMutation CLINVAR These studies provide direct genetic evidence that the Pro252Arg mutation in FGFR1 causes human Pfeiffer syndrome and uncovers a molecular mechanism in which Fgf/Fgfr1 signals regulate intramembraneous bone formation by modulating Cbfa1 expression. 10942429

2000
dbSNP: rs121909627
rs121909627
FGFR1
C 0.850 CausalMutation CLINVAR Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations. 10861678

2000
dbSNP: rs121909627
rs121909627
FGFR1
C 0.850 CausalMutation CLINVAR Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 7795583

1995
dbSNP: rs121909627
rs121909627
FGFR1
C 0.850 CausalMutation CLINVAR A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. 7874169

1994
dbSNP: rs1554570706
rs1554570706
FGFR1
A 0.700 GeneticVariation CLINVAR KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744

2017
dbSNP: rs1554570813
rs1554570813
FGFR1
A 0.700 CausalMutation CLINVAR Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 27502037

2016
dbSNP: rs1554570706
rs1554570706
FGFR1
A 0.700 GeneticVariation CLINVAR Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 16764984

2006
dbSNP: rs1554552774
rs1554552774
FGFR1
T 0.700 CausalMutation CLINVAR Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs121909641
rs121909641
FGFR1
A 0.700 GeneticVariation CLINVAR