VHL Partial deletion of 3 Kb

CI-VAR-00003461Explore in graph →CIViC 2191

Curated evidence

Evidence by cancer (2 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 1–2 of 2 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 Disease2unmapped disease
VHL Partial deletion of 3 Kb	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5878 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
VHL Partial deletion of 3 Kb	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6729 Tissues from 23 CNS hemangioblastoma patients were analyzed. 8 patients had germline VHL mutations. One patient had a partial germline deletion (exon 1-2) of the VHL gene. The patient was diagnosed w… (full text at CIViC) PMID 24335534 · Muscarella et al., 2014 · 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.