×
Entrez Id:
7516
Gene Symbol:
XRCC2
XRCC2
0.100
CausalMutation
group
CLINVAR
Rare mutations in XRCC2 increase the risk of breast cancer.
22464251
2012
×
Entrez Id:
7516
Gene Symbol:
XRCC2
XRCC2
0.100
CausalMutation
group
CLINVAR
Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.
27233470
2016
×
Entrez Id:
7516
Gene Symbol:
XRCC2
XRCC2
0.100
CausalMutation
group
CLINVAR
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.
28724667
2017
×
Entrez Id:
7516
Gene Symbol:
XRCC2
XRCC2
0.100
GeneticVariation
group
CLINVAR
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
GeneticVariation
group
CLINVAR
The positive regulation of p53 by the tumor suppressor VHL.
16969113
2006
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
CausalMutation
group
CLINVAR
Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients.
24581539
2014
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
CausalMutation
group
CLINVAR
Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families.
10761708
2000
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
GeneticVariation
group
CLINVAR
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.
22241717
2012
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
CausalMutation
group
CLINVAR
Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHL(R200W) mutation (Chuvash polycythemia).
21993671
2012
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
CausalMutation
group
CLINVAR
von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.
11331612
2001
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
CausalMutation
group
CLINVAR
Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.
24555745
2014
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
CausalMutation
group
CLINVAR
In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.
15574766
2004
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
CausalMutation
group
CLINVAR
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
27439424
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
CausalMutation
group
CLINVAR
The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.
10567493
1999
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
CausalMutation
group
CLINVAR
A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family.
26323595
2015
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
GeneticVariation
group
CLINVAR
Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex.
15611064
2005
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
GeneticVariation
group
CLINVAR
Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.
12114495
2002
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
GeneticVariation
group
CLINVAR
Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA.
11058902
2000
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
CausalMutation
group
CLINVAR
Clinical management of pheochromocytoma and paraganglioma in Singapore: missed opportunities for genetic testing.
28944243
2017
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
Biomarker
group
LHGDN
Molecular basis of the VHL hereditary cancer syndrome.
12209156
2002
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
CausalMutation
group
CLINVAR
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
27527340
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
GeneticVariation
group
CLINVAR
Genetic testing for cancer predisposition.
11160785
2001
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
CausalMutation
group
CLINVAR
The Roles of VHL-Dependent Ubiquitination in Signaling and Cancer.
22649785
2012
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
CausalMutation
group
CLINVAR
p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.
23842656
2013
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.180
CausalMutation
group
CLINVAR
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
9829912
1998