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 |
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 |
rs786202787
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic testing for cancer predisposition.
|
11160785 |
2001 |
rs786202787
|
|
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 |
rs786202787
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.
|
24466223 |
2014 |
rs786202787
|
|
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 |
rs786202787
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.
|
18446368 |
2008 |
rs786202787
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.
|
9215674 |
1997 |
rs5030827
|
|
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 |