Gene: VHL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922613
rs193922613
VHL
G 0.700 GeneticVariation CLINVAR Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster. 16210343

2006
dbSNP: rs104893826
rs104893826
VHL
C 0.700 CausalMutation CLINVAR von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. 11331612

2001
dbSNP: rs5030622
rs5030622
VHL
G 0.700 CausalMutation CLINVAR von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. 11331612

2001
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. 11331612

2001
dbSNP: rs28940298
rs28940298
VHL
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: rs1553620318
rs1553620318
VHL
T 0.700 GeneticVariation CLINVAR von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas. 17102088

2006
dbSNP: rs28940298
rs28940298
VHL
T 0.700 CausalMutation CLINVAR VHL type 2B mutations retain VBC complex form and function. 19030229

2008
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR VHL type 2B mutations retain VBC complex form and function. 19030229

2008
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. 19228690

2009
dbSNP: rs28940298
rs28940298
VHL
T 0.700 CausalMutation CLINVAR VHL mutations in renal cell cancer: does occupational exposure to trichloroethylene make a difference? 15177666

2004
dbSNP: rs5030622
rs5030622
VHL
G 0.700 CausalMutation CLINVAR VHL mutations in renal cell cancer: does occupational exposure to trichloroethylene make a difference? 15177666

2004
dbSNP: rs28940298
rs28940298
VHL
T 0.700 CausalMutation CLINVAR VHL mutation analysis in patients with isolated central nervous system haemangioblastoma. 17264095

2007
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: rs5030818
rs5030818
VHL
T 0.700 CausalMutation CLINVAR VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease. 27617348

2016
dbSNP: rs869025618
rs869025618
VHL
C 0.700 GeneticVariation CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564

2011
dbSNP: rs869025615
rs869025615
VHL
T 0.700 CausalMutation CLINVAR VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line. 20145706

2009
dbSNP: rs5030833
rs5030833
VHL
G 0.700 CausalMutation CLINVAR VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutation. 10766184

2000
dbSNP: rs1131690962
rs1131690962
VHL
C 0.700 GeneticVariation 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: rs1553619976
rs1553619976
VHL
CA 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: 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: rs5030830
rs5030830
VHL
G 0.700 CausalMutation CLINVAR Tumorigenic mutations in VHL disrupt folding in vivo by interfering with chaperonin binding. 14636579

2003
dbSNP: rs1131690962
rs1131690962
VHL
C 0.700 GeneticVariation CLINVAR Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma. 17997830

2007
dbSNP: rs5030825
rs5030825
VHL
T 0.700 CausalMutation CLINVAR Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma. 23298237

2013
dbSNP: rs864622109
rs864622109
VHL
G 0.700 CausalMutation CLINVAR Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma. 23298237

2013
dbSNP: rs869025621
rs869025621
VHL
T 0.700 GeneticVariation CLINVAR Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma. 23298237

2013