Variant · Indel
VHL R108Hfs*23 (c.323_324del)
CI-VAR-00003618Explore in graph →CIViC 3132
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
- 16142346
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease2unmapped disease | ||||||||
| VHL R108Hfs*23 (c.323_324del) | (predisposing) | Predisposing | C | N/A N/A | 3 | submitted | EID8581Peripheral blood samples were taken from VHL disease patients and patients with familial or isolated pheochromocytoma/paragangliomas from Seoul National University Hospital, Ajou University Medical Ce… (full text at CIViC) PMID 16142346 · Kang et al., 2005 · Open in CIViC | civic |
| VHL R108Hfs*23 (c.323_324del) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID10198Medical records of 26 patients with germline mutations of the VHL gene who had been diagnosed with VHL disease in Severance Hospital (Seoul, Republic of Korea) and Samsung Medical Center (Seoul, Repub… (full text at CIViC) PMID 25078357 · Hwang et al., 2014 · 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