rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.800
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.800
GeneticVariation
UNIPROT
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
25394175
2015
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.800
GeneticVariation
UNIPROT
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
24893135
2014
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.800
GeneticVariation
UNIPROT
Canadian guideline on genetic screening for hereditary renal cell cancers.
24319509
2013
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.800
GeneticVariation
CLINVAR
Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.
22825683
2012
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.800
GeneticVariation
CLINVAR
Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.
22357542
2012
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.800
GeneticVariation
CLINVAR
Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease.
22105611
2011
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.800
CausalMutation
CLINVAR
Genetic analysis of von Hippel-Lindau disease.
20151405
2010
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.800
GeneticVariation
CLINVAR
Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma.
19996202
2009
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.800
GeneticVariation
CLINVAR
Germline mutations in the von Hippel-Lindau gene in Italian patients.
19464396
2009
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.800
CausalMutation
CLINVAR
Germline mutations in the von Hippel-Lindau gene in Italian patients.
19464396
2009
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.800
GeneticVariation
CLINVAR
Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia.
19304954
2009
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.800
GeneticVariation
CLINVAR
Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.
18836774
2008
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.800
CausalMutation
CLINVAR
Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features.
18580449
2008
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.800
GeneticVariation
CLINVAR
Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features.
18580449
2008
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.800
CausalMutation
CLINVAR
Genotype-phenotype correlations in von Hippel-Lindau disease.
17024664
2007
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.800
GeneticVariation
CLINVAR
Genotype-phenotype correlations in von Hippel-Lindau disease.
17024664
2007
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.800
GeneticVariation
UNIPROT
The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.
16502427
2006
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.800
GeneticVariation
CLINVAR
Pancreatic involvement in von Hippel-Lindau disease: report of two cases and review of the literature.
16952288
2006
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.800
GeneticVariation
CLINVAR
Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.
17102082
2006
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.800
GeneticVariation
UNIPROT
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
15604628
2004
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.800
GeneticVariation
CLINVAR
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.
12202531
2002
rs398123481
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.800
CausalMutation
CLINVAR
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.
12202531
2002