rs28940298
|
|
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 |
rs28940298
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
|
25637381 |
2015 |
rs28940298
|
|
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 |
rs28940298
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
|
25371412 |
2014 |
rs28940298
|
|
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 |
rs28940298
|
|
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 |
rs28940298
|
|
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 |
rs28940298
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Chuvash polycythemia VHLR200W mutation is associated with down-regulation of hepcidin expression.
|
21876117 |
2011 |
rs28940298
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.
|
21606165 |
2011 |
rs28940298
|
|
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 |
rs28940298
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
VHL type 2B mutations retain VBC complex form and function.
|
19030229 |
2008 |
rs28940298
|
|
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 |
rs28940298
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.
|
17264095 |
2007 |
rs28940298
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.
|
15574766 |
2004 |
rs28940298
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.
|
14604959 |
2004 |
rs28940298
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
VHL mutations in renal cell cancer: does occupational exposure to trichloroethylene make a difference?
|
15177666 |
2004 |
rs28940298
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.
|
12844285 |
2003 |
rs28940298
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Endemic polycythemia in Russia: mutation in the VHL gene.
|
11987242 |
2003 |
rs28940298
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
|
12415268 |
2002 |
rs28940298
|
|
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 |
rs28940298
|
|
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 |