rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.700
CausalMutation
CLINVAR
Differences in genetic and epigenetic alterations between von Hippel-Lindau disease-related and sporadic hemangioblastomas of the central nervous system.
28379443
2017
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.700
CausalMutation
CLINVAR
Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.
25867206
2016
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.700
CausalMutation
CLINVAR
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
27527340
2016
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.700
CausalMutation
CLINVAR
Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center.
25562111
2015
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.700
CausalMutation
CLINVAR
Effects of point mutations in pVHL on the binding of HIF-1α.
22105711
2012
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.700
CausalMutation
CLINVAR
Phosphorylation of von Hippel-Lindau protein by checkpoint kinase 2 regulates p53 transactivation.
22071692
2011
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.700
CausalMutation
CLINVAR
Mutations of the von Hippel-Lindau gene confer increased susceptibility to natural killer cells of clear-cell renal cell carcinoma.
21258414
2011
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.700
CausalMutation
CLINVAR
Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma.
19996202
2009
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.700
CausalMutation
CLINVAR
Hereditary renal cell carcinoma associated with von Hippel-Lindau disease: a description of a Nova Scotia cohort.
19293973
2009
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.700
CausalMutation
CLINVAR
Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.
14722919
2004
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.700
CausalMutation
CLINVAR
Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes.
12807974
2003
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.700
CausalMutation
CLINVAR
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.
12202531
2002
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.700
CausalMutation
CLINVAR
Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families.
10761708
2000
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.700
CausalMutation
CLINVAR
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
9829911
1998
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.700
CausalMutation
CLINVAR
Establishment and characterization of a renal cell carcinoma line from a patient with von Hippel-Lindau syndrome.
9209471
1997
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.700
CausalMutation
CLINVAR
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
7728151
1995
rs1559426203
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.700
CausalMutation
CLINVAR
Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.
7977367
1994