Gene: VHL ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs104893831
rs104893831
VHL
A 0.700 CausalMutation CLINVAR Dissecting fragment-based lead discovery at the von Hippel-Lindau protein:hypoxia inducible factor 1α protein-protein interface. 23102223

2012
dbSNP: rs104893831
rs104893831
VHL
A 0.700 CausalMutation CLINVAR Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469

2011
dbSNP: rs119103277
rs119103277
VHL
A 0.700 CausalMutation CLINVAR Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients. 22357542

2012
dbSNP: rs193922609
rs193922609
VHL
A 0.700 CausalMutation CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503

2009
dbSNP: rs193922609
rs193922609
VHL
A 0.700 CausalMutation CLINVAR Molecular basis of von Hippel-Lindau syndrome in Chinese patients. 21362373

2011
dbSNP: rs193922609
rs193922609
VHL
A 0.700 CausalMutation CLINVAR Identification of 3 novel VHL germ-line mutations in Danish VHL patients. 22799452

2012
dbSNP: rs193922609
rs193922609
VHL
A 0.700 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
dbSNP: rs193922609
rs193922609
VHL
A 0.700 CausalMutation CLINVAR Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 12202531

2002
dbSNP: rs5030802
rs5030802
VHL
A 0.700 GeneticVariation CLINVAR Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. 27439424

2016
dbSNP: rs5030802
rs5030802
VHL
A 0.700 GeneticVariation CLINVAR Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. 17661816

2007
dbSNP: rs5030802
rs5030802
VHL
A 0.700 GeneticVariation CLINVAR Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex. 15611064

2005
dbSNP: rs5030802
rs5030802
VHL
A 0.700 GeneticVariation CLINVAR A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas. 25715769

2016
dbSNP: rs5030802
rs5030802
VHL
A 0.700 GeneticVariation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998
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: rs5030802
rs5030802
VHL
A 0.700 GeneticVariation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016
dbSNP: rs5030821
rs5030821
VHL
A 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664

2007
dbSNP: rs5030821
rs5030821
VHL
A 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene. 12114495

2002
dbSNP: rs5030821
rs5030821
VHL
A 0.700 CausalMutation CLINVAR Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. 27439424

2016
dbSNP: rs5030821
rs5030821
VHL
A 0.700 CausalMutation CLINVAR Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma. 20518900

2010
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 The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999
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: rs5030821
rs5030821
VHL
A 0.700 CausalMutation CLINVAR Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306

1994
dbSNP: rs5030821
rs5030821
VHL
A 0.700 CausalMutation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996