Gene: VHL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690960
rs1131690960
VHL
TGGC 0.700 GeneticVariation CLINVAR Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling. 12004076

2002
dbSNP: rs1131690960
rs1131690960
VHL
TGGC 0.700 GeneticVariation CLINVAR Dissecting fragment-based lead discovery at the von Hippel-Lindau protein:hypoxia inducible factor 1α protein-protein interface. 23102223

2012
dbSNP: rs1131690961
rs1131690961
VHL
C 0.700 GeneticVariation CLINVAR Insights into Cullin-RING E3 ubiquitin ligase recruitment: structure of the VHL-EloBC-Cul2 complex. 25661653

2015
dbSNP: rs1131690961
rs1131690961
VHL
C 0.700 GeneticVariation CLINVAR Genetic analysis of von Hippel-Lindau disease. 20151405

2010
dbSNP: rs1131690962
rs1131690962
VHL
C 0.700 GeneticVariation CLINVAR Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling. 12004076

2002
dbSNP: rs1131690962
rs1131690962
VHL
C 0.700 GeneticVariation CLINVAR Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA. 11058902

2000
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: 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: 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: rs1131690965
rs1131690965
VHL
G 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation. 20567917

2010
dbSNP: rs1553620312
rs1553620312
VHL
GCGATGCCTCCAGGTTGTC 0.700 GeneticVariation CLINVAR Dissecting fragment-based lead discovery at the von Hippel-Lindau protein:hypoxia inducible factor 1α protein-protein interface. 23102223

2012
dbSNP: rs1553620318
rs1553620318
VHL
T 0.700 GeneticVariation CLINVAR Dissecting fragment-based lead discovery at the von Hippel-Lindau protein:hypoxia inducible factor 1α protein-protein interface. 23102223

2012
dbSNP: rs1553620318
rs1553620318
VHL
T 0.700 GeneticVariation CLINVAR Familial isolated pheochromocytoma presenting a new mutation in the von Hippel-Lindau gene. 15607616

2004
dbSNP: rs1553620318
rs1553620318
VHL
T 0.700 GeneticVariation CLINVAR von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas. 17102088

2006
dbSNP: rs1553620318
rs1553620318
VHL
T 0.700 GeneticVariation CLINVAR Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis. 19270817

2009
dbSNP: rs1553620318
rs1553620318
VHL
T 0.700 GeneticVariation CLINVAR Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. 27811160

2016
dbSNP: rs193922608
rs193922608
VHL
T 0.700 GeneticVariation CLINVAR Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation. 21389259

2011
dbSNP: rs193922608
rs193922608
VHL
T 0.700 GeneticVariation CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717

2012
dbSNP: rs193922608
rs193922608
VHL
T 0.700 GeneticVariation CLINVAR Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. 17102082

2006
dbSNP: rs193922613
rs193922613
VHL
G 0.700 GeneticVariation CLINVAR The positive regulation of p53 by the tumor suppressor VHL. 16969113

2006
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: 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: rs193922613
rs193922613
VHL
G 0.700 GeneticVariation CLINVAR Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?). 23859443

2013
dbSNP: rs193922613
rs193922613
VHL
G 0.700 GeneticVariation CLINVAR Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways. 23660872

2013