VHL Q96_P102del (c.287_307del)

CI-VAR-00003599Explore in graph →CIViC 3145

Curated evidence

Evidence by cancer (2 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 1–2 of 2 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 Disease2unmapped disease
VHL Q96_P102del (c.287_307del)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8614 Germline sequencing of the VHL gene was performed on patients who presented with VHL syndromic hemangioblastomas, and germline results were compared to sequencing results from matched tumor tissue sam… (full text at CIViC) PMID 29813026 · Vikkath et al., 2018 · Open in CIViC	civic
VHL Q96_P102del (c.287_307del)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID8643 A study describing phenotypic and genotypic characteristics of VHL in an Indian population of 31 subjects, from 15 families diagnosed with VHL. Genomic DNA was amplified with PCR and sequenced and lar… (full text at CIViC) PMID 25952756 · Vikkath et al., 2015 · 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.