VHL Null (Partial deletion of Exon 3)

CI-VAR-00003000Explore in graph →CIViC 1952

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 Exon 3)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5252 Seven Hungarian families (35 members) with VHL and 37 unrelated patients with apparently sporadic pheochromocytoma had their VHL gene molecularly analyzed. The above mutation was found in 1 family, an… (full text at CIViC) PMID 19574279 · Gergics et al., 2009 · Open in CIViC	civic
VHL Null (Partial deletion of Exon 3)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5504 Three German VHL patients are reported. Molecular analysis confirmed the presence of the above mutation in 1 patient. Clinical manifestations in this patient included: retinal hemangioblastoma, cerebe… (full text at CIViC) PMID 21181474 · von Dücker et al., 2011 · 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.