Gene: FGFR2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. 28901406

2017
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. 28901406

2017
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256

2015
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256

2015
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. 25245177

2014
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Non surgical treatment of Crouzon syndrome. 25209230

2014
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. 25245177

2014
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Non surgical treatment of Crouzon syndrome. 25209230

2014
dbSNP: rs121918490
rs121918490
FGFR2
C 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: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR The molecular and cellular basis of Apert syndrome. 25343114

2013
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR The molecular and cellular basis of Apert syndrome. 25343114

2013
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation 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 0.700 CausalMutation CLINVAR Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015

2012
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015

2012
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. 18726952

2009
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. 19610084

2009
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. 18726952

2009
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. 19610084

2009
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Pfeiffer syndrome. 16740155

2006
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Pfeiffer syndrome. 16740155

2006
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Limbal stem cell deficiency associated with LADD syndrome. 15883293

2005
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 15793702

2005
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565

2005