Gene: VHL ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882035
rs730882035
VHL
0.850 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: rs730882035
rs730882035
VHL
0.850 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: rs730882035
rs730882035
VHL
0.850 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR We report here an atypical family bearing two VHL gene mutations in cis (R200W and R161Q), together with phenotypic analysis, structural modeling, functional, and transcriptomic studies of these mutants in comparison with classical mutants involved in the different VHL phenotypes. 25371412

2014
dbSNP: rs730882035
rs730882035
VHL
0.850 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs730882035
rs730882035
VHL
0.850 GeneticVariation BEFREE We report here an atypical family bearing two VHL gene mutations in cis (R200W and R161Q), together with phenotypic analysis, structural modeling, functional, and transcriptomic studies of these mutants in comparison with classical mutants involved in the different VHL phenotypes. 25371412

2014
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease. 24707167

2014
dbSNP: rs730882035
rs730882035
VHL
0.850 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs730882035
rs730882035
VHL
A 0.850 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: rs730882035
rs730882035
VHL
0.850 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: rs730882035
rs730882035
VHL
0.850 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564

2011
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR Molecular basis of von Hippel-Lindau syndrome in Chinese patients. 21362373

2011
dbSNP: rs730882035
rs730882035
VHL
0.850 GeneticVariation BEFREE Genetic analysis helped identify this unprecedented condition; the patient harbored a heterozygous missense mutation c.482G>A in exon 3 of the VHL gene, indicating von Hippel-Lindau syndrome. 20960261

2010
dbSNP: rs730882035
rs730882035
VHL
0.850 GeneticVariation BEFREE Germline mutation of von Hippel-Lindau (VHL) gene 695 G>A (R161Q) in a patient with a peculiar phenotype with type 2C VHL syndrome. 17102087

2006
dbSNP: rs730882035
rs730882035
VHL
0.850 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849

2004
dbSNP: rs730882035
rs730882035
VHL
0.850 GeneticVariation BEFREE We identified a missense mutation of VHL gene, 695 G --> A (R161Q), in a Japanese kindred with type 2A VHL syndrome. 14767570

2004
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816

2002
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
dbSNP: rs730882035
rs730882035
VHL
A 0.850 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs28940298
rs28940298
VHL
0.820 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: rs28940298
rs28940298
VHL
0.820 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: rs28940298
rs28940298
VHL
0.820 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs28940298
rs28940298
VHL
0.820 GeneticVariation BEFREE We report here an atypical family bearing two VHL gene mutations in cis (R200W and R161Q), together with phenotypic analysis, structural modeling, functional, and transcriptomic studies of these mutants in comparison with classical mutants involved in the different VHL phenotypes. 25371412

2014