VHL Null (Partial deletion of Exons 2 & 3)

CI-VAR-00003002Explore in graph →CIViC 2036

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL Null (Partial deletion of Exons 2 & 3)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5486 26 VHL patients from 18 families, who had undergone a partial adrenalectomy for pheochromocytoma were retrospectively analyzed. 3 patients from 3 families were confirmed to have the above mutation. Ad… (full text at CIViC) PMID 20846682 · Benhammou et al., 2010 · Open in CIViC	civic
VHL Null (Partial deletion of Exons 2 & 3)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5630 64 VHL patients with renal involvement were analyzed. 61 of the 64 patients had a known germline mutation. The above mutation was found in 1 patient. Clinical manifestations included renal cell carcin… (full text at CIViC) PMID 22156657 · Jilg et al., 2012 · 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.