VHL Null (Large deletion)

CI-VAR-00002995Explore in graph →CIViC 2182

Curated evidence

Evidence by cancer (10 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 1–10 of 10 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 Disease10unmapped disease
VHL Null (Large deletion)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5868 This study analyzed screened for VHL and RET mutations in a group of patients taken from the European-American Pheochromocytoma-Paraganglioma and German von Hippel-Lindau Disease Registries. One proba… (full text at CIViC) PMID 19906784 · Erlic et al., 2010 · Open in CIViC	civic
VHL Null (Large deletion)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6326 Eleven RCCs and 16 renal cysts from eight patients with VHL were analyzed. All patients had known germline VHL mutations. One male patient had a large germline deletion in the VHL gene and presented w… (full text at CIViC) PMID 15709172 · Lee et al., 2005 · 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.