VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Von Hippel-Lindau Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations. 7553625 1995
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau gene in Italian patients. 19464396 2009
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.810 CausalMutation CLINVAR Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function. 10205047 1999
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis. 19408298 2009
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs730882034
rs730882034
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: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs730882034
rs730882034
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: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 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: rs730882034
rs730882034
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
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 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