VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.850 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509 2013
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.850 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135 2014
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.850 GeneticVariation BEFREE We report here an atypical family bearing two VHL gene mutations in cis (R200W and R161Q), together with phenotypic analysis, structural modeling, functional, and transcriptomic studies of these mutants in comparison with classical mutants involved in the different VHL phenotypes. 25371412 2014
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.850 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.850 GeneticVariation BEFREE Germline mutation of von Hippel-Lindau (VHL) gene 695 G>A (R161Q) in a patient with a peculiar phenotype with type 2C VHL syndrome. 17102087 2006
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.850 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
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.850 GeneticVariation BEFREE p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees. 23842656 2013
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.850 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.850 GeneticVariation BEFREE Genetic analysis helped identify this unprecedented condition; the patient harbored a heterozygous missense mutation c.482G>A in exon 3 of the VHL gene, indicating von Hippel-Lindau syndrome. 20960261 2010
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.850 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
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.850 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.850 GeneticVariation BEFREE We identified a missense mutation of VHL gene, 695 G --> A (R161Q), in a Japanese kindred with type 2A VHL syndrome. 14767570 2004
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.820 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
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.820 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.820 GeneticVariation UNIPROT Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online. 10627136 1998
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.820 GeneticVariation UNIPROT Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing. 9452032 1998
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.820 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509 2013
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.820 GeneticVariation UNIPROT Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC. 10635329 1999
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.820 GeneticVariation UNIPROT Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan. 8634692 1995
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.820 GeneticVariation UNIPROT Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. 10533030 1999
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.820 GeneticVariation UNIPROT Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912 1998
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.820 GeneticVariation UNIPROT Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911 1998
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.820 GeneticVariation BEFREE The gene associated with von Hippel-Lindau syndrome, VHL, maps to this region, and homozygosity with respect to a C-->T missense mutation in VHL, causing an arginine-to-tryptophan change at amino-acid residue 200 (Arg200Trp), was identified in all individuals affected with Chuvash polycythemia. 12415268 2002
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.820 GeneticVariation BEFREE We report here an atypical family bearing two VHL gene mutations in cis (R200W and R161Q), together with phenotypic analysis, structural modeling, functional, and transcriptomic studies of these mutants in comparison with classical mutants involved in the different VHL phenotypes. 25371412 2014
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.820 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004