Publication
Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease.
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 (6)
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 6
- geneVHLcivic_curation1.00
- variantVHL Exon 1 Deletioncivic_curation1.00
- variantVHL G144fs (c.432insG)civic_curation1.00
- variantVHL Q145* (c.433C>T)civic_curation1.00
- variantVHL R69fs (c.204insG)civic_curation1.00
- variantVHL Splice Region (c.340+5G>C)civic_curation1.00
Curated evidence
Evidence citing this paper (5)
- 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
- 21972040
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL Exon 1 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5249Germline mutation analysis of seven east-Chinese families revealed 6 mutations. This mutation was found two separate VHL families. One family contained a male VHL type 1 patient with hemangioblastomas… (full text at CIViC) PMID 21972040 · Huang et al., 2012 · Open in CIViC | civic |
| VHL G144fs (c.432insG)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5247Germline mutation analysis of seven east-Chinese families revealed 6 mutations. This novel mutation was found in 2 male VHL type 1 family members with hemangioblastomas of the central nervous system (… (full text at CIViC) PMID 21972040 · Huang et al., 2012 · Open in CIViC | civic |
| VHL Q145* (c.433C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5248Germline mutation analysis of seven east-Chinese families revealed 6 mutations. This nonsense mutation was found in two separate families. One female VHL type 1 patient with hemangioblastomas of the c… (full text at CIViC) PMID 21972040 · Huang et al., 2012 · Open in CIViC | civic |
| VHL R69fs (c.204insG)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5245Germline mutation analysis of seven east-Chinese families revealed 6 mutations. This mutation was found in a VHL type 1 male patient with hemangioblastomas of the central nervous system, retinal angio… (full text at CIViC) PMID 21972040 · Huang et al., 2012 · Open in CIViC | civic |
| VHL Splice Region (c.340+5G>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5246Germline mutation analysis of seven east-Chinese families revealed 6 mutations. This splice-site alteration was found in two VHL type 2A female family members with hemangioblastomas of the central ner… (full text at CIViC) PMID 21972040 · Huang et al., 2012 · Open in CIViC | civic |