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: rs1057519044
rs1057519044
FGFR2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1434545235
rs1434545235
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554930637
rs1554930637
FGFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs79184941
rs79184941
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR A Crouzon syndrome synonymous mutation activates a 5' splice site within the IIIc exon of the FGFR2 gene. 7558045

1995
dbSNP: rs1564919048
rs1564919048
FGFR2
A 0.700 GeneticVariation CLINVAR A novel mutation in FGFR2. 25425289

2015
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: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 16838304

2006
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: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. 7773284

1995
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: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR FGFR-associated craniosynostosis syndromes and gastrointestinal defects. 27481450

2016
dbSNP: rs1057519037
rs1057519037
FGFR2
AA 0.700 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274

2013
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: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256

2015
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 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: 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