Gene

VHL

von Hippel-Lindau tumor suppressor

Explore in graph →CI-GENE-00038379HGNC:12687 ENSG00000134086 NCBI 7428 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (2,994)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1,151–1,200 of 2,994 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
VHL N141fs (c.420delC)1
(oncogenic)	Clear Cell Renal Cell Carcinoma	Oncogenic	C	Supports Oncogenicity	1	submitted	EID6151

Cohorts

Alteration frequency by cohort (42)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

gdcObserved42 cohort rows · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Kidney Renal Clear Cell Carcinoma TCGA-KIRC	Clear Cell Renal Cell Carcinoma	Ssm

Literature

Linked publications (98)

25 per page, newest first.

pubmedPublishedShowing 26–50 of 98 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Somatostatin receptor expression on von Hippel-Lindau-associated hemangioblastomas offers novel therapeutic target.
· Sci Rep · 2017 · PMID 28094316 · validated civic_curation pubmed
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
· Hum Mutat · 1996 · PMID 8956040 · validated civic_curation pubmed
Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.
· J Med Genet · 2002 · PMID 12114495 · validated civic_curation pubmed
Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.
· J Korean Med Sci · 2009 · PMID 19270817 · validated

VHL N141fs (c.422_440del)3
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	N/A N/A	3	submitted	EID8690 426 unrelated subjects with a clinical diagnosis ranging from VHL syndrome to sporadic potentially VHL-related tumours were analyzed for mutation in the VHL gene. The analysis was carried out by the V… (full text at CIViC) PMID 21463266 · Leonardi et al., 2011 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	2	submitted	EID5186 In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 18 novel variants were identified in VHL patients, but none were present in 200 unaffected control in… (full text at CIViC) PMID 21463266 · Leonardi et al., 2011 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	1	submitted	EID6575 A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC	civic

VHL N141fs (c.422del)2
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	4	submitted	EID5023 Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of pheochromocytoma is associated with missense mutations that result in substitution of a surface amin… (full text at CIViC) PMID 17024664 · Ong et al., 2007 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5008 In a study of 138 unrelated VHL families, 109 germline mutations were found. Missense mutations were more frequently found in families with pheochromocytoma (PC). Deletions. Nonsense, and frameshift m… (full text at CIViC) PMID 8730290 · Maher et al., 1996 · Open in CIViC	civic

VHL N150fs (c.447del)2
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	N/A N/A	3	submitted	EID8665 The data of 18 patients with solid renal tumours associated with VHL disease were analyzed. All patients except for Patient 12 came from families with a definite VHL family history (the paper does not… (full text at CIViC) PMID 18067796 · Zhang et al., 2007 · Open in CIViC	civic
(oncogenic)	Kidney CarcinomaALIAS	Oncogenic	C	Supports Oncogenicity	1	accepted	EID6918 Tumors from 98 patients with sporadic clear cell renal carcinoma (ccRC) were analyzed for VHL mutations and loss of heterozygosity (LOH). Somatic VHL variants were observed in 56 patients, and VHL LOH… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC	civic

VHL N150fs (c.449_462del)2
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	accepted	EID5442 43 unrelated VHL patients with previously sequenced VHL germline mutations and 36 suspected VHL mutation carriers were subject to denaturing high performance liquid chromatography (DHPLC) mutation scr… (full text at CIViC) PMID 11409863 · Klein et al., 2001 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	submitted	EID9283 27 index patients suspected of having VHL disease from unrelated Chinese families and their relatives were studied. The nucleotide were numbered according to the sequence numbering by Latif et al, 199… (full text at CIViC) PMID 18446368 · Zhang et al., 2008 · Open in CIViC	civic

VHL N78D (c.232A>G)3
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	4	submitted	EID5687 This paper reports a VHL family harboring a novel missense mutation. Genetic testing was performed on 9 members of this kindred, which revealed 3 patients carried the above mutation. The 6 members who… (full text at CIViC) PMID 23224817 · Cingoz et al., 2013 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6744 Direct sequencing and multiplex ligation dependent probe amplification were performed on thirteen unrelated subjects with VHL mutations. The clinical manifestations and family histories of the subject… (full text at CIViC) PMID 27439424 · Lee et al., 2016 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	N/A N/A	3	submitted	EID8495 Of 14 patients with retinal vascular proliferation and known family history of VHL disease, 12 patients were enrolled in an approved study protocol at the National Cancer Institute. 11 of these patien… (full text at CIViC) PMID 18474773 · Wong et al., 2008 · Open in CIViC	civic

VHL N78H (c.232A>C)7
(predisposing)	Renal Cell CarcinomaCURATED_BROADER	Predisposing	C	Supports Predisposition	4	accepted	EID5130 Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of pheochromocytoma is associated with missense mutations that result in substitution of a surface amin… (full text at CIViC) PMID 17024664 · Ong et al., 2007 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	accepted	EID4920 In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. Using… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	accepted	EID4962 An investigation of 94 VHL patients without large deletions for intragenic mutations revealed 40 different mutations in 55 unrelated individuals. In all patients with multiple affected family members … (full text at CIViC) PMID 7987306 · Crossey et al., 1994 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	submitted	EID9346 Germline mutations in 45 unrelated Japanese VHL patients were determined from blood samples using PCR-SSCP or Southern blot analyses. The authors used the 284 codon ORF previously described by Latif e… (full text at CIViC) PMID 8634692 · 1995 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	submitted	EID10544 A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	2	accepted	EID5341 Blood samples from 5 Japanese families revealed 4 germline mutations. This missense mutation was found in a family of five individuals. Only one VHL patient was identified with hemangioblastomas of th… (full text at CIViC) PMID 8641976 · Kanno et al., 1996 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	N/A N/A	2	submitted	EID8754 56 male patients age 12 to 76 years, from 40 families with VHL were examined as part of a larger screening program for VHL. VHL mutations were identified in 16 families. Individual patient phenotype-g… (full text at CIViC) PMID 9187702 · Choyke et al., 1997 · Open in CIViC	civic