Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030809
rs5030809
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: rs5030809
rs5030809
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: rs5030809
rs5030809
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: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 25371412

2014
dbSNP: rs5030809
rs5030809
VHL
0.810 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR Structural insights into the folding defects of oncogenic pVHL lead to correction of its function in vitro. 23840444

2013
dbSNP: rs5030809
rs5030809
VHL
0.810 GeneticVariation BEFREE We observed intracranial aneurysms in 2 patients with von Hippel-Lindau (VHL) disease and the known disease-causing mutation c.292T > C (p.Tyr98His) in the VHL tumor suppressor gene. 23434161

2013
dbSNP: rs5030809
rs5030809
VHL
0.810 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs5030809
rs5030809
VHL
0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. 19280651

2009
dbSNP: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR Hypoxia-inducible factor-2alpha regulates the expression of TRAIL receptor DR5 in renal cancer cells. 18544564

2008
dbSNP: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR A novel Von Hippel-Lindau case with germline mutation at codon 167 (CGG to TGG) having endocrine microadenomatosis of the pancreas. 17406817

2007
dbSNP: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR Hypoxia-inducible factor linked to differential kidney cancer risk seen with type 2A and type 2B VHL mutations. 17526729

2007
dbSNP: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR Renal cell carcinoma risk in type 2 von Hippel-Lindau disease correlates with defects in pVHL stability and HIF-1alpha interactions. 16261165

2006
dbSNP: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR Genetic testing in pheochromocytoma or functional paraganglioma. 16314641

2005
dbSNP: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849

2004
dbSNP: rs5030809
rs5030809
VHL
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL. 12510195

2003
dbSNP: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816

2002
dbSNP: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR The pressure rises: update on the genetics of phaeochromocytoma. 12351569

2002
dbSNP: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease. 11709017

2001
dbSNP: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. 11331612

2001
dbSNP: rs5030809
rs5030809
VHL
C 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: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality. 11483638

2001
dbSNP: rs5030809
rs5030809
VHL
C 0.810 CausalMutation CLINVAR Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein. 10878807

2000