VHL Partial deletion of 4 Kb

CI-VAR-00003463Explore in graph →CIViC 2492

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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 Disease1unmapped disease
VHL Partial deletion of 4 Kb	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6734 Tissues from 23 CNS hemangioblastoma patients were analyzed. 8 patients had germline VHL mutations. Two patients had partial germline deletions (exon 1-2) of the VHL gene. The first patient had a germ… (full text at CIViC) PMID 24335534 · Muscarella et al., 2014 · Open in CIViC	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.