Publication
Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
Data not yet available
Linked entities
Linked entities (4)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 4
- geneVHLcivic_curation1.00
- variantVHL R177* (c.529A>T)civic_curation1.00
- variantVHL S65W (c.194C>G)civic_curation1.00
- variantVHL Splice Site (c.340+1G>A)civic_curation1.00
Curated evidence
Evidence citing this paper (6)
- 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
- 20518900
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL R167Q (c.500G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID533014 Chinese patients from 10 families were diagnosed with Von Hippel-Lindau disease based on clinical criteria. Genetic testing demonstrated 1 member of a single family harbored the above mutation. Cli… (full text at CIViC) PMID 20518900 · Zhou et al., 2010 · Open in CIViC | civic |
| VHL R177* (c.529A>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID533114 Chinese patients from 10 VHL Type I families were diagnosed with Von Hippel-Lindau disease based on clinical criteria. Germline mutations were identified in 7/10 families. In all 14 patients, the f… (full text at CIViC) PMID 20518900 · Zhou et al., 2010 · Open in CIViC | civic |
| VHL S65W (c.194C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID532814 Chinese patients from 10 families were diagnosed with Von Hippel-Lindau disease based on clinical criteria. Genetic testing demonstrated 2 members (Patient 1 and 2) of a single family (Family I) ha… (full text at CIViC) PMID 20518900 · Zhou et al., 2010 · Open in CIViC | civic |
| VHL Splice Region (c.340+5G>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID533314 Chinese patients from 10 families were diagnosed with Von Hippel-Lindau disease based on clinical criteria. Genetic testing demonstrated 4 members of a single family harbored the above mutation. Cl… (full text at CIViC) PMID 20518900 · Zhou et al., 2010 · Open in CIViC | civic |
| VHL Splice Site (c.340+1G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID533214 Chinese patients from 10 families were diagnosed with Von Hippel-Lindau disease based on clinical criteria. Genetic testing demonstrated 1 member of a single family harbored the above mutation. Cli… (full text at CIViC) PMID 20518900 · Zhou et al., 2010 · Open in CIViC | civic |
| VHL V130F (c.388G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID532914 Chinese patients from 10 families were diagnosed with Von Hippel-Lindau disease based on clinical criteria. Genetic testing demonstrated 1 member of a single family harbored the above mutation. Cli… (full text at CIViC) PMID 20518900 · Zhou et al., 2010 · Open in CIViC | civic |