Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123481
rs398123481
VHL
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: rs398123481
rs398123481
VHL
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: rs398123481
rs398123481
VHL
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs398123481
rs398123481
VHL
0.800 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs398123481
rs398123481
VHL
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs398123481
rs398123481
VHL
0.800 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma. 22825683

2012
dbSNP: rs398123481
rs398123481
VHL
T 0.800 GeneticVariation CLINVAR Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients. 22357542

2012
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease. 22105611

2011
dbSNP: rs398123481
rs398123481
VHL
T 0.800 CausalMutation CLINVAR Genetic analysis of von Hippel-Lindau disease. 20151405

2010
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma. 19996202

2009
dbSNP: rs398123481
rs398123481
VHL
T 0.800 GeneticVariation CLINVAR Germline mutations in the von Hippel-Lindau gene in Italian patients. 19464396

2009
dbSNP: rs398123481
rs398123481
VHL
T 0.800 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau gene in Italian patients. 19464396

2009
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia. 19304954

2009
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene. 18836774

2008
dbSNP: rs398123481
rs398123481
VHL
T 0.800 CausalMutation CLINVAR Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features. 18580449

2008
dbSNP: rs398123481
rs398123481
VHL
T 0.800 GeneticVariation CLINVAR Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features. 18580449

2008
dbSNP: rs398123481
rs398123481
VHL
T 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664

2007
dbSNP: rs398123481
rs398123481
VHL
T 0.800 GeneticVariation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664

2007
dbSNP: rs398123481
rs398123481
VHL
0.800 GeneticVariation UNIPROT The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. 16502427

2006
dbSNP: rs398123481
rs398123481
VHL
T 0.800 GeneticVariation CLINVAR Pancreatic involvement in von Hippel-Lindau disease: report of two cases and review of the literature. 16952288

2006
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. 17102082

2006
dbSNP: rs398123481
rs398123481
VHL
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs398123481
rs398123481
VHL
T 0.800 GeneticVariation CLINVAR Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 12202531

2002
dbSNP: rs398123481
rs398123481
VHL
T 0.800 CausalMutation CLINVAR Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 12202531

2002