Gene: VHL ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940298
rs28940298
VHL
T 0.700 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center. 25562111

2015
dbSNP: rs5030818
rs5030818
VHL
T 0.700 CausalMutation CLINVAR SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). 25720320

2015
dbSNP: rs5030820
rs5030820
VHL
T 0.700 CausalMutation CLINVAR Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families. 25952756

2015
dbSNP: rs5030820
rs5030820
VHL
T 0.700 CausalMutation CLINVAR Sunitinib treatment for multifocal renal cell carcinoma (RCC) and pancreatic neuroendocrine tumor (NET) in patient with Von Hippel-Lindau disease. Case Report. 26812297

2015
dbSNP: rs765978945
rs765978945
VHL
G 0.700 CausalMutation CLINVAR Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan. 24727139

2015
dbSNP: rs869025618
rs869025618
VHL
C 0.700 GeneticVariation CLINVAR Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families. 25952756

2015
dbSNP: rs104893826
rs104893826
VHL
C 0.700 CausalMutation CLINVAR Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease. 24555745

2014
dbSNP: rs104893830
rs104893830
VHL
C 0.700 CausalMutation CLINVAR Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients. 24581539

2014
dbSNP: rs104893831
rs104893831
VHL
A 0.700 CausalMutation CLINVAR The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension. 24729484

2014
dbSNP: rs1131690963
rs1131690963
VHL
G 0.700 GeneticVariation CLINVAR In Silico Analysis Identification of a Novel Germ-Line VHL Mutation in a Patient of Malignant Pheochromocytoma. 24518179

2014
dbSNP: rs193922613
rs193922613
VHL
G 0.700 GeneticVariation CLINVAR An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma. 24969085

2014
dbSNP: rs193922613
rs193922613
VHL
G 0.700 GeneticVariation CLINVAR Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 25371412

2014
dbSNP: rs28940298
rs28940298
VHL
T 0.700 CausalMutation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014
dbSNP: rs28940298
rs28940298
VHL
T 0.700 CausalMutation CLINVAR Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 25371412

2014
dbSNP: rs397516441
rs397516441
VHL
G 0.700 GeneticVariation CLINVAR Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations. 24132471

2014
dbSNP: rs5030802
rs5030802
VHL
A 0.700 GeneticVariation CLINVAR Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease. 25078357

2014
dbSNP: rs5030809
rs5030809
VHL
C 0.700 CausalMutation CLINVAR Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 25371412

2014
dbSNP: rs5030818
rs5030818
VHL
T 0.700 CausalMutation CLINVAR VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype. 24301059

2014
dbSNP: rs5030821
rs5030821
VHL
A 0.700 CausalMutation CLINVAR Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients. 24581539

2014
dbSNP: rs5030821
rs5030821
VHL
A 0.700 CausalMutation CLINVAR Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 25371412

2014
dbSNP: rs587780077
rs587780077
VHL
T 0.700 CausalMutation CLINVAR Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family. 23673869

2014
dbSNP: rs730882035
rs730882035
VHL
A 0.700 CausalMutation CLINVAR Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours. 24466223

2014
dbSNP: rs730882035
rs730882035
VHL
A 0.700 CausalMutation CLINVAR Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 25371412

2014
dbSNP: rs730882035
rs730882035
VHL
A 0.700 CausalMutation CLINVAR Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease. 24707167

2014