Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516444
rs397516444
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: rs397516444
rs397516444
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: rs397516444
rs397516444
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: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. 19228690

2009
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma. 18584357

2008
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Hypoxia-inducible factor-2alpha regulates the expression of TRAIL receptor DR5 in renal cancer cells. 18544564

2008
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR VHL promotes E2 box-dependent E-cadherin transcription by HIF-mediated regulation of SIP1 and snail. 17060462

2007
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. 16502427

2006
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Diverse effects of mutations in exon II of the von Hippel-Lindau (VHL) tumor suppressor gene on the interaction of pVHL with the cytosolic chaperonin and pVHL-dependent ubiquitin ligase activity. 11865071

2002
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein. 10878807

2000
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein. 10587522

1999
dbSNP: rs397516444
rs397516444
VHL
0.800 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: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. 10533030

1999
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma. 10458336

1999
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC. 10635329

1999
dbSNP: rs397516444
rs397516444
VHL
0.800 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: rs397516444
rs397516444
VHL
0.800 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: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing. 9452032

1998
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
dbSNP: rs397516444
rs397516444
VHL
0.800 GeneticVariation UNIPROT Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients. 9452106

1998