VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912 1998
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		A 0.810 CausalMutation CLINVAR We have identified a family segregating von Hippel-Lindau (VHL) disease with a previously unreported T547A mutation in exon 1 of the VHL gene that causes a Tyr112 to Asn missense alteration in the protein. 10533030 1999
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. 16502427 2006
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. 8825918 1995
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		C 0.810 CausalMutation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. 8863170 1996
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. 8730290 1996
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		A 0.810 CausalMutation CLINVAR Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families. 10761708 2000
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 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: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation BEFREE We have identified a family segregating von Hippel-Lindau (VHL) disease with a previously unreported T547A mutation in exon 1 of the VHL gene that causes a Tyr112 to Asn missense alteration in the protein. 10533030 1999
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151 1995
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		A 0.810 CausalMutation CLINVAR Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes. 19602254 2009
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040 1996
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306 1994
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		C 0.810 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151 1995
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 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: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 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: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT We have identified a family segregating von Hippel-Lindau (VHL) disease with a previously unreported T547A mutation in exon 1 of the VHL gene that causes a Tyr112 to Asn missense alteration in the protein. 10533030 1999
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. 8592333 1995
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT Identification of the von Hippel-Lindau disease tumor suppressor gene. 8493574 1993
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135 2014
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		C 0.810 CausalMutation CLINVAR VHL type 2B mutations retain VBC complex form and function. 19030229 2008
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509 2013
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC. 10635329 1999
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients. 9452106 1998
dbSNP: rs104893824
rs104893824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013