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: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.040 GeneticVariation BEFREE Herein, we detail three new cases of AN</span> with p.K650T FGFR3 mutation, and review the 21 known cases. 29068064

2018
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.040 GeneticVariation BEFREE The p.Lys650Thr pathogenic variant in FGFR3 has been linked to acanthosis nigricans without significant craniofacial or skeletal abnormalities. 28181399

2017
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.040 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: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.040 GeneticVariation BEFREE 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: rs121913105
rs121913105
FGFR3
CUI: C2930792
Disease: Familial acanthosis nigricans
Familial acanthosis nigricans 		0.020 GeneticVariation BEFREE Familial acanthosis nigricans with p.K650T FGFR3 mutation. 29068064

2018
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.020 GeneticVariation BEFREE Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation. 27214123

2016
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.020 GeneticVariation BEFREE Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation. 27214123

2016
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.020 GeneticVariation BEFREE FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. 25119967

2015
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.020 GeneticVariation BEFREE FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. 25119967

2015
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C2930792
Disease: Familial acanthosis nigricans
Familial acanthosis nigricans 		0.020 GeneticVariation BEFREE Familial acanthosis nigricans due to K650T FGFR3 mutation. 17875876

2007
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.010 GeneticVariation BEFREE The p.Lys650Thr pathogenic variant in FGFR3 has been linked to acanthosis nigricans without significant craniofacial or skeletal abnormalities. 28181399

2017
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0033680
Disease: Protein-Losing Enteropathies
Protein-Losing Enteropathies 		0.010 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: C0024215
Disease: Lymphangiectasis, Intestinal
Lymphangiectasis, Intestinal 		0.010 GeneticVariation BEFREE Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation. 27214123

2016
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.010 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: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 GeneticVariation BEFREE Constitutive phosphorylation of c-Cbl by the K650M mutant appeared to be related to the intracellular retention of the receptor. 17509076

2007
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.010 GeneticVariation BEFREE Constitutive phosphorylation of c-Cbl by the K650M mutant appeared to be related to the intracellular retention of the receptor. 17509076

2007
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 GeneticVariation BEFREE Constitutive phosphorylation of c-Cbl by the K650M mutant appeared to be related to the intracellular retention of the receptor. 17509076

2007
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation BEFREE 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: rs121913105
rs121913105
FGFR3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 GeneticVariation BEFREE 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