Gene: FGFR2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913477
rs121913477
FGFR2
C 0.810 CausalMutation CLINVAR

dbSNP: rs121913478
rs121913478
FGFR2
C 0.810 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR FGFR-associated craniosynostosis syndromes and gastrointestinal defects. 27481450

2016
dbSNP: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256

2015
dbSNP: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085

2015
dbSNP: rs121918491
rs121918491
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: rs1564919048
rs1564919048
FGFR2
A 0.700 GeneticVariation CLINVAR A novel mutation in FGFR2. 25425289

2015
dbSNP: rs1057519037
rs1057519037
FGFR2
AA 0.700 CausalMutation CLINVAR Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing. 25361936

2014
dbSNP: rs1057519037
rs1057519037
FGFR2
AA 0.700 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274

2013
dbSNP: rs1057519037
rs1057519037
FGFR2
AA 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: rs1057519043
rs1057519043
FGFR2
A 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: rs1057519043
rs1057519043
FGFR2
A 0.700 GeneticVariation CLINVAR Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach. 23754559

2013
dbSNP: rs121918487
rs121918487
FGFR2
A 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: rs121918491
rs121918491
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: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 16838304

2006
dbSNP: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. 16158432

2005
dbSNP: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10]. 12884434

2003
dbSNP: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR Screening of patients with craniosynostosis: molecular strategy. 12884424

2003
dbSNP: rs1057519043
rs1057519043
FGFR2
A 0.700 GeneticVariation CLINVAR [Clinical curative effect of dengzhanhua injection on acute cerebral infarction: a report of 100 cases]. 12575301

2002
dbSNP: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children. 9586546

1998
dbSNP: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998
dbSNP: rs1057519043
rs1057519043
FGFR2
A 0.700 GeneticVariation CLINVAR Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. 8946174

1996
dbSNP: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR 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: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 8957519

1996
dbSNP: rs1057519037
rs1057519037
FGFR2
AA 0.700 CausalMutation CLINVAR Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462

1995