Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients. 28388566

2017
dbSNP: rs5030804
rs5030804
VHL
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: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR E2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis. 26503325

2015
dbSNP: rs5030804
rs5030804
VHL
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
dbSNP: rs5030804
rs5030804
VHL
0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs5030804
rs5030804
VHL
0.810 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs5030804
rs5030804
VHL
0.810 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs5030804
rs5030804
VHL
0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs5030804
rs5030804
VHL
0.810 GeneticVariation BEFREE p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees. 23842656

2013
dbSNP: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees. 23842656

2013
dbSNP: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469

2011
dbSNP: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564

2011
dbSNP: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes. 19602254

2009
dbSNP: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR Formation of primary cilia in the renal epithelium is regulated by the von Hippel-Lindau tumor suppressor protein. 16775032

2006
dbSNP: rs5030804
rs5030804
VHL
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR Genetic study of a large Chinese kindred with von Hippel-Lindau disease. 15109448

2004
dbSNP: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL. 12510195

2003
dbSNP: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR Ubiquitination of a novel deubiquitinating enzyme requires direct binding to von Hippel-Lindau tumor suppressor protein. 11739384

2002
dbSNP: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system. 11309459

2001
dbSNP: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease. 11331613

2001
dbSNP: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR 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: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe. 8707293

1996
dbSNP: rs5030804
rs5030804
VHL
C 0.810 GeneticVariation CLINVAR

dbSNP: rs5030804
rs5030804
VHL
T 0.810 GeneticVariation CLINVAR

dbSNP: rs5030804
rs5030804
VHL
T 0.810 CausalMutation CLINVAR