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 2,551–2,600 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 T124I (c.371C>T)2
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	N/A N/A	3	submitted

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 T133fs (c.397del)3
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	accepted	EID5047 Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mutations predicted to inactivate the VHL protein were associated with renal cell carcinoma and hemang… (full text at CIViC) PMID 9829911 · Stolle et al., 1998 · Open in CIViC	civic
〃	Renal Cell CarcinomaCURATED_BROADER	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6056 In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC) PMID 7591282 · Bailly et al., 1995 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	3	accepted	EID6607 Patients with ELSTs were identified and included in the International Endolymphatic Sac Tumor Registry. The registry contained 93 patients as of July 2014, and of those, 25 were sporadic, and 68 assoc… (full text at CIViC) PMID 25867206 · Bausch et al., 2016 · Open in CIViC	civic

VHL T157fs (c.469delA)2
(predisposing)	Kidney CarcinomaALIAS	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6921 Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC	civic
(oncogenic)	Clear Cell Renal Cell Carcinoma	Oncogenic	C	Supports Oncogenicity	2	submitted	EID6158 This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC	civic

VHL t(3;6)(p13;q25.1)2
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	3	rejected	EID10357 The proband presented with a large ulcer of the duodenum. Abdominal sonography and CT scan of the abdomen revealed bilateral solid masses, believed to represent RCC. Bilateral nephrectomy was performe… (full text at CIViC) PMID 2925273 · Kovacs et al., 1989 · Open in CIViC	civic
〃	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Predisposition	2	rejected	EID10350 Two cases of germline translocations associated with the development of conventional RCCs are described. One was a 53-year-old male patient (case HA445-446) with constitutional t(3;6)(p13;q25.1) devel… (full text at CIViC) PMID 20633763 · Yusenko et al., 2010 · Open in CIViC	civic