Variant · Deletion
VHL C77del (c.229_231del)
CI-VAR-00000360Explore in graph →NP_000542.1:p.Cys77delNM_000551.3:c.229_231delCIViC 2123
Curated evidence
Evidence by cancer (1 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.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 10088816
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease1unmapped disease | ||||||||
| VHL C77del (c.229_231del) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID5712A cohort of 183 affected individuals with VHL disease (VHLD) from 81 unrelated pedigrees were examined and analyzed. 124 of 183 patients had ocular angiomas. Neither prevalence of ocular angiomas nor … (full text at CIViC) PMID 10088816 · Webster et al., 1999 · Open in CIViC | 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