|
rs869025655
|
|
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 |
|
rs869025655
|
|
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 |
|
rs869025655
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Genotype-phenotype correlations in von Hippel-Lindau disease.
|
17024664 |
2007 |
|
rs869025631
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs869025622
|
|
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 |
|
rs869025622
|
|
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 |
|
rs869025621
|
|
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 |
|
rs869025621
|
|
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 |
|
rs869025618
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families.
|
25952756 |
2015 |
|
rs869025618
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic analysis of von Hippel-Lindau disease.
|
20151405 |
2010 |
|
rs869025618
|
|
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 |
|
rs869025618
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Regulation of E-cadherin expression by VHL and hypoxia-inducible factor.
|
16585181 |
2006 |
|
rs869025618
|
|
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 |
|
rs869025618
|
|
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 |
|
rs869025618
|
|
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 |
|
rs869025618
|
|
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 |
|
rs869025618
|
|
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 |
|
rs869025618
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
BAP1 loss defines a new class of renal cell carcinoma.
|
22683710 |
2012 |
|
rs869025618
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Genotype-phenotype correlations in von Hippel-Lindau disease.
|
17024664 |
2007 |
|
rs869025615
|
|
Neoplastic Syndromes, Hereditary
|
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 |
|
rs869025615
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Identification of two sporadically derived mutations in the Von Hippel-Lindau gene.
|
8829648 |
1996 |
|
rs869025615
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.
|
27530247 |
2016 |
|
rs869025615
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
|
7728151 |
1995 |
|
rs864622109
|
|
Neoplastic Syndromes, Hereditary
|
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 |
|
rs864622109
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
|
8956040 |
1996 |