rs1553619431
×
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
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
C
0.800
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
rs1553619431
×
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
rs1553619431
×
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
rs1553619431
×
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
rs1553619431
×
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
rs1553619431
×
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
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
C
0.800
CausalMutation
CLINVAR
Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma.
23036577
2013
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.800
CausalMutation
CLINVAR
Growth kinetics in von Hippel-Lindau-associated renal cell carcinoma.
22156657
2012
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
C
0.800
CausalMutation
CLINVAR
BAP1 loss defines a new class of renal cell carcinoma.
22683710
2012
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.800
CausalMutation
CLINVAR
VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.
21715564
2011
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
C
0.800
CausalMutation
CLINVAR
VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.
21715564
2011
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.800
CausalMutation
CLINVAR
Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma.
19996202
2009
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
C
0.800
CausalMutation
CLINVAR
Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma.
19996202
2009
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
C
0.800
CausalMutation
CLINVAR
Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.
19408298
2009
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
C
0.800
CausalMutation
CLINVAR
Clinical characteristics of renal cell carcinoma in Korean patients with von Hippel-Lindau disease compared to sporadic bilateral or multifocal renal cell carcinoma.
19949673
2009
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
C
0.800
CausalMutation
CLINVAR
Genotype-phenotype correlations in von Hippel-Lindau disease.
17024664
2007
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
C
0.800
CausalMutation
CLINVAR
Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease.
17688370
2007
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.800
CausalMutation
CLINVAR
Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease.
17688370
2007
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.800
CausalMutation
CLINVAR
Genotype-phenotype correlations in von Hippel-Lindau disease.
17024664
2007
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.800
CausalMutation
CLINVAR
Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer.
16488999
2006
rs1553619431
×
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
rs1553619431
×
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
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
C
0.800
CausalMutation
CLINVAR
Overproduction of vascular endothelial growth factor related to von Hippel-Lindau tumor suppressor gene mutations and hypoxia-inducible factor-1 alpha expression in renal cell carcinomas.
12853836
2003
rs1553619431
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.800
CausalMutation
CLINVAR
High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil.
12624160
2003