Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		C 0.800 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.730 GeneticVariation BEFREE K650M/E substitutions in the Fibroblast growth factor receptor 3 (FGFR3) are associated with Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) and Thanatophoric Dysplasia type II (TDII), respectively. 29242050

2018
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.730 GeneticVariation BEFREE Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]). 11055896

2000
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.730 GeneticVariation BEFREE Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis. 10377013

1999
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		T 0.730 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		C 0.730 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.720 GeneticVariation BEFREE Recently, AN was reported in HCH with p.K650T mutation in FGFR3, and to date, there are only three reports, comprising 18 cases, describing AN harboring this specific gene mutation. 29068064

2018
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.720 GeneticVariation BEFREE The proband and ten relatives presented HCH plus AN and the analysis of FGFR3 showed the p.Lys650Thr mutation. 18583390

2008
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		C 0.720 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		C 0.710 CausalMutation CLINVAR Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. 25809207

2016
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		C 0.710 CausalMutation CLINVAR Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation. 26818779

2016
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		C 0.710 CausalMutation CLINVAR Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? 18583390

2008
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		C 0.710 CausalMutation CLINVAR Familial acanthosis nigricans due to K650T FGFR3 mutation. 17875876

2007
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		C 0.710 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: rs121913105
rs121913105
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.710 GeneticVariation BEFREE Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis. 10377013

1999
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		0.700 GeneticVariation UNIPROT Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. 15772091

2005
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C4225629
Disease: SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		C 0.700 CausalMutation CLINVAR