Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025655
rs869025655
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 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: rs869025655
rs869025655
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999

dbSNP: rs869025655
rs869025655
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664

2007

dbSNP: rs869025622
rs869025622
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999

dbSNP: rs869025622
rs869025622
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR Synergistic growth inhibition by Iressa and Rapamycin is modulated by VHL mutations in renal cell carcinoma. 15956968

2005

dbSNP: rs869025621
rs869025621
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR Aggregation dynamics and identification of aggregation-prone mutants of the von Hippel-Lindau tumor suppressor protein. 27179072

2016

dbSNP: rs869025621
rs869025621
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
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

dbSNP: rs869025618
rs869025618
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families. 25952756

2015

dbSNP: rs869025618
rs869025618
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR Genetic analysis of von Hippel-Lindau disease. 20151405

2010

dbSNP: rs869025618
rs869025618
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR Prospective study assessing hypoxia-related proteins as markers for the outcome of treatment with sunitinib in advanced clear-cell renal cell carcinoma. 23788753

2013

dbSNP: rs869025618
rs869025618
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR Regulation of E-cadherin expression by VHL and hypoxia-inducible factor. 16585181

2006

dbSNP: rs869025618
rs869025618
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
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: rs869025618
rs869025618
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis. 19408298

2009

dbSNP: rs869025618
rs869025618
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters. 11921283

2002

dbSNP: rs869025618
rs869025618
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR Priming-dependent phosphorylation and regulation of the tumor suppressor pVHL by glycogen synthase kinase 3. 16847331

2006

dbSNP: rs869025618
rs869025618
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma. 24969085

2014

dbSNP: rs869025618
rs869025618
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR BAP1 loss defines a new class of renal cell carcinoma. 22683710

2012

dbSNP: rs869025618
rs869025618
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664

2007

dbSNP: rs786202787
rs786202787
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR Genetic testing for cancer predisposition. 11160785

2001

dbSNP: rs786202787
rs786202787
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease. 24678776

2014

dbSNP: rs786202787
rs786202787
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours. 24466223

2014

dbSNP: rs786202787
rs786202787
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene. 12500216

2003

dbSNP: rs786202787
rs786202787
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families. 18446368

2008

dbSNP: rs786202787
rs786202787
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. 9215674

1997

dbSNP: rs5030827
rs5030827
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Nuclear E-cadherin and VHL immunoreactivity are prognostic indicators of clear-cell renal cell carcinoma. 17906660

2007