VHL Null (Partial deletion)

CI-VAR-00003003Explore in graph →CIViC 2103

Curated evidence

Evidence by cancer (16 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–16 of 16 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Von Hippel-Lindau Disease16unmapped disease
VHL Null (Partial deletion)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5662 This study examined 182 patients with non-syndromic pheochromocytoma or paraganglioma for the presence of VHL mutations. VHL mutations were found in 3 of the 182 patients. The above mutation was found… (full text at CIViC) PMID 22438210 · Eisenhofer et al., 2012 · Open in CIViC	civic
VHL Null (Partial deletion)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5804 Genetic analysis of 27 patients with urinary bladder paragangliomas, revealed 17 germline mutations, three of which were in the VHL gene. This null mutation was found in a 23-year-old female (patient … (full text at CIViC) PMID 25683602 · Martucci et al., 2015 · Open in CIViC

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.