Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. 28901406

2017

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256

2015

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. 25245177

2014

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Non surgical treatment of Crouzon syndrome. 25209230

2014

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR The molecular and cellular basis of Apert syndrome. 25343114

2013

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
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: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015

2012

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. 19610084

2009

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Pfeiffer syndrome. 16740155

2006

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 15793702

2005

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565

2005

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Limbal stem cell deficiency associated with LADD syndrome. 15883293

2005

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred." 11343323

2001

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. 10735635

2000

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130

2000

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 10712195

2000

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Clinical variability in patients with Apert's syndrome. 10067911

1999

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583

1998

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development. 7573032

1995

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 8434615

1993

dbSNP: rs1554928978
rs1554928978
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658

1992