Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		A 0.800 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		G 0.800 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986

2015
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		G 0.750 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		A 0.750 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		G 0.710 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Brain and bone abnormalities of thanatophoric dwarfism. 19098178

2009
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Executive Function and Adaptive Behavior in Muenke Syndrome. 26028288

2015
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Achondroplasia: from genotype to phenotype. 17950653

2008
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. 10777366

2000
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. 23165795

2012
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. 23740942

2013
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		G 0.700 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Crouzon with acanthosis nigricans. Further delineation of the syndrome. 17935505

2007
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		A 0.700 CausalMutation CLINVAR Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 11055896

2000
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		A 0.700 CausalMutation CLINVAR A common FGFR3 gene mutation in hypochondroplasia. 8589686

1995
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		G 0.700 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969

2006
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		G 0.700 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis. 25931420

2015
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. 10053006

1999
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. 7670477

1995
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. 22045636

2012
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Achondroplasia is defined by recurrent G380R mutations of FGFR3. 7847369

1995
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		G 0.700 CausalMutation CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871

2014