Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553619948
rs1553619948
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: rs1553619948
rs1553619948
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: rs1553619948
rs1553619948
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: rs1553619948
rs1553619948
VHL
0.800 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs1553619948
rs1553619948
VHL
C 0.800 CausalMutation CLINVAR Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease. 25078357

2014
dbSNP: rs1553619948
rs1553619948
VHL
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs1553619948
rs1553619948
VHL
C 0.800 CausalMutation CLINVAR Structural insights into the folding defects of oncogenic pVHL lead to correction of its function in vitro. 23840444

2013
dbSNP: rs1553619948
rs1553619948
VHL
0.800 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs1553619948
rs1553619948
VHL
C 0.800 CausalMutation CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564

2011
dbSNP: rs1553619948
rs1553619948
VHL
C 0.800 CausalMutation CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503

2009
dbSNP: rs1553619948
rs1553619948
VHL
C 0.800 CausalMutation CLINVAR Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis. 19270817

2009
dbSNP: rs1553619948
rs1553619948
VHL
0.800 GeneticVariation UNIPROT The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. 16502427

2006
dbSNP: rs1553619948
rs1553619948
VHL
C 0.800 CausalMutation CLINVAR Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas. 16142346

2005
dbSNP: rs1553619948
rs1553619948
VHL
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs1553619948
rs1553619948
VHL
C 0.800 CausalMutation CLINVAR Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL. 12510195

2003
dbSNP: rs1553619948
rs1553619948
VHL
0.800 GeneticVariation UNIPROT Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC. 10635329

1999
dbSNP: rs1553619948
rs1553619948
VHL
C 0.800 CausalMutation CLINVAR Trichloroethylene exposure and specific somatic mutations in patients with renal cell carcinoma. 10340905

1999
dbSNP: rs1553619948
rs1553619948
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: rs1553619948
rs1553619948
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: rs1553619948
rs1553619948
VHL
0.800 GeneticVariation UNIPROT Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
dbSNP: rs1553619948
rs1553619948
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: rs1553619948
rs1553619948
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: rs1553619948
rs1553619948
VHL
0.800 GeneticVariation UNIPROT Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998
dbSNP: rs1553619948
rs1553619948
VHL
0.800 GeneticVariation UNIPROT Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients. 9452106

1998
dbSNP: rs1553619948
rs1553619948
VHL
0.800 GeneticVariation UNIPROT Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996