Variant · Snv
VHL S65* (c.189_192del)
CI-VAR-00004089Explore in graph →CIViC 4099
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.
- 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
- 7977367
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease2unmapped disease | ||||||||
| VHL S65* (c.189_192del) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID10517Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC) PMID 7977367 · Whaley et al., 1994 · Open in CIViC | civic |
| VHL S65* (c.189_192del) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID10761A retrospective cohort study describes phenotypic variability within families with von Hippel-Lindau disease. Patients with genetically confirmed VHL were identified, although methods were not stated.… (full text at CIViC) PMID 34416425 · Bowen et al., 2022 · 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