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) 		G 0.800 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986

2015
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		A 0.800 CausalMutation CLINVAR

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 Muenke syndrome: An international multicenter natural history study. 26740388

2016
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 Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis. 25931420

2015
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
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		A 0.700 CausalMutation CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871

2014
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. 24864036

2014
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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. 23378035

2013
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Growth and development in thanatophoric dysplasia - an update 25 years later. 25356217

2013
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 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: C0010278
Disease: Craniosynostosis
Craniosynostosis 		A 0.700 CausalMutation CLINVAR Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. 23165795

2012
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		G 0.700 CausalMutation CLINVAR Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. 23149434

2012
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		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 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 Significant phenotypic variability of Muenke syndrome in identical twins. 19449410

2009
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 Achondroplasia. 18328977

2008
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. 18344207

2008