VHL Partial deletion of 2 Kb

CI-VAR-00003460Explore in graph →CIViC 3095

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 Partial deletion of 2 Kb	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8400 Three patients of 17 presenting with VHL germline mutations presented with 2kb deletions. Single strand conformation polymorphism and southern blotting for variant identification in the DNA found in b… (full text at CIViC) PMID 11309459 · Gläsker et al., 2001 · Open in CIViC	civic
VHL Partial deletion of 2 Kb	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8408 A retroactive study was performed of six patients who has undergone surgery for spinal nerve hemangioblastomas at the Albert-Ludwigs-University between 1983 and 2003. A 35 year old male patient was fo… (full text at CIViC) PMID 15730575 · Gläsker 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.