Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918491
rs121918491
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		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: rs121918491
rs121918491
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		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
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		T 0.700 CausalMutation CLINVAR Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 16838304

2006
dbSNP: rs121918491
rs121918491
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		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: rs121918491
rs121918491
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		T 0.700 CausalMutation CLINVAR FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 8957519

1996
dbSNP: rs121918491
rs121918491
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		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: rs121918491
rs121918491
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		T 0.700 CausalMutation CLINVAR Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. 7773284

1995
dbSNP: rs121918491
rs121918491
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		T 0.700 CausalMutation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994
dbSNP: rs121918491
rs121918491
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		T 0.700 CausalMutation CLINVAR Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994
dbSNP: rs121918491
rs121918491
FGFR2
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
CUI: C1867564
Disease: SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
CUI: C1867563
Disease: CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		T 0.700 CausalMutation CLINVAR