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: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.850 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: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.850 GeneticVariation BEFREE Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. 18076102

2008
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.850 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: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.850 GeneticVariation UNIPROT We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations. 10053006

1999
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.850 GeneticVariation BEFREE Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. 10377013

1999
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.850 GeneticVariation BEFREE We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations. 10053006

1999
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		C 0.850 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.840 GeneticVariation BEFREE We describe the first case of protein-losing enteropathy in a pediatric patient, with severe skeletal dysplasia consistent with thanatophoric dysplasia type I and DNA analysis that revealed a c.1949A>T (p.Lys650Met) in exon 15 of the FGFR3 gene. 27214123

2016
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.840 GeneticVariation BEFREE We report a patient who has the missense FGFR3 mutation, Lys650Met, previously reported in association only with SADDAN, who exhibits some findings similar to both thanatophoric dysplasia (types 1 and 2) in addition to those findings characteristic of SADDAN. 25119967

2015
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.840 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: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.840 GeneticVariation UNIPROT Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. 10360402

1999
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.840 GeneticVariation BEFREE The FGFR3 Lys650Met mutation results in severe disturbances in endochondral bone growth that approach and overlap those observed in thanatophoric dysplasia, type I. 10377013

1999
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.840 GeneticVariation UNIPROT Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online. 10671061

1998
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.840 GeneticVariation UNIPROT G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. 9790257

1998
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.840 GeneticVariation UNIPROT Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). 8845844

1996
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.840 GeneticVariation UNIPROT Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. 8589699

1995
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.840 GeneticVariation UNIPROT Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. 7773297

1995
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		C 0.840 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		T 0.840 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.800 GeneticVariation UNIPROT FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation. 12297284

2002
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.800 GeneticVariation UNIPROT The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation. 10611230

2000
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.800 GeneticVariation UNIPROT Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. 8599935

1996
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.800 GeneticVariation UNIPROT A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. 7758520

1995
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.800 GeneticVariation UNIPROT Achondroplasia is defined by recurrent G380R mutations of FGFR3. 7847369

1995
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586

1994