rs5030802
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.810
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
rs5030802
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.810
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
rs5030802
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.810
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs5030802
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.810
GeneticVariation
UNIPROT
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
24893135
2014
rs5030802
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.810
CausalMutation
CLINVAR
Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL ) disease.
25078357
2014
rs5030802
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.810
GeneticVariation
UNIPROT
Canadian guideline on genetic screening for hereditary renal cell cancers.
24319509
2013
rs5030802
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.810
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs5030802
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.810
CausalMutation
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
rs5030802
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.810
CausalMutation
CLINVAR
Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex.
15611064
2005
rs5030802
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.810
GeneticVariation
UNIPROT
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
15604628
2004
rs5030802
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.810
CausalMutation
CLINVAR
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
9829912
1998
rs5030802
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.810
CausalMutation
CLINVAR