VHL Rearrangement

CI-VAR-00003959Explore in graph →CIViC 2439

Curated evidence

Evidence by cancer (9 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 1–9 of 9 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 Disease9unmapped disease
VHL Rearrangement	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID6525 Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with a VHL rearrangment determined by a southern blot. The patient was 25Y at the last fol… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC	civic
VHL Rearrangement	(predisposing)	Predisposing	C	Supports Uncertain Significance	1	accepted	EID6599 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. A re… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · 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.