VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 47; N. variants: 204
Disease: Von Hippel-Lindau Syndrome ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.800 CausalMutation CLINVAR E2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis. 26503325 2015
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135 2014
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.800 CausalMutation CLINVAR Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways. 23660872 2013
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509 2013
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.800 CausalMutation CLINVAR Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R. 20583150 2010
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.800 CausalMutation CLINVAR Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis. 19408298 2009
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. 16502427 2006
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.800 CausalMutation CLINVAR Multiple splice variants of the human HIF-3 alpha locus are targets of the von Hippel-Lindau E3 ubiquitin ligase complex. 12538644 2003
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.800 CausalMutation CLINVAR Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA. 11058902 2000
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.800 CausalMutation CLINVAR Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. 10088816 1999
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC. 10635329 1999
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.800 CausalMutation CLINVAR Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein. 10587522 1999
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. 10408776 1999
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. 10533030 1999
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online. 10627136 1998
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912 1998
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients. 9452106 1998
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911 1998
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing. 9452032 1998
dbSNP: rs267607170
rs267607170
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040 1996