Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. 27651169

2016

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 25371412

2014

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W). 23403324

2013

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Decreased serum glucose and glycosylated hemoglobin levels in patients with Chuvash polycythemia: a role for HIF in glucose metabolism. 23015148

2013

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHL(R200W) mutation (Chuvash polycythemia). 21993671

2012

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Chuvash polycythemia VHLR200W mutation is associated with down-regulation of hepcidin expression. 21876117

2011

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia. 21606165

2011

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene. 18836774

2008

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR VHL type 2B mutations retain VBC complex form and function. 19030229

2008

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis. 17992257

2007

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR VHL mutation analysis in patients with isolated central nervous system haemangioblastoma. 17264095

2007

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations. 15574766

2004

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. 14604959

2004

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR VHL mutations in renal cell cancer: does occupational exposure to trichloroethylene make a difference? 15177666

2004

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. 12844285

2003

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Endemic polycythemia in Russia: mutation in the VHL gene. 11987242

2003

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. 12415268

2002

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998

dbSNP: rs28940298
rs28940298
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996