Publication
Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families.
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 (5)
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 5
- geneVHLcivic_curation1.00
- variantVHL C162R (c.484T>C)civic_curation1.00
- variantVHL F76del (c.227_229del)civic_curation1.00
- variantVHL N78H (c.232A>C)civic_curation1.00
- variantVHL Splice Site (c.464-1G>T)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
- 8641976
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL C162R (c.484T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5349Blood samples from 5 Japanese families revealed 4 germline mutations. This missense mutation was found in a family of 7 individuals. Two VHL patients were identified, 1 with brain stem hemangioblastom… (full text at CIViC) PMID 8641976 · Kanno et al., 1996 · Open in CIViC | civic |
| VHL F76del (c.227_229del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5340Blood samples from 5 Japanese families revealed 4 germline mutations. This mutation was found in a family of 3 individuals (Family B). Only one patient in this family developed symtoms, which included… (full text at CIViC) PMID 8641976 · Kanno et al., 1996 · Open in CIViC | civic |
| VHL G144fs (c.431del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID5342Blood samples from 5 Japanese families revealed 4 germline mutations. This mutation causes a premature stop codon at amino acid 158 and was found in a family of 11 individuals. Three VHL patients were… (full text at CIViC) PMID 8641976 · Kanno et al., 1996 · Open in CIViC | civic |
| VHL N78H (c.232A>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5341Blood samples from 5 Japanese families revealed 4 germline mutations. This missense mutation was found in a family of five individuals. Only one VHL patient was identified with hemangioblastomas of th… (full text at CIViC) PMID 8641976 · Kanno et al., 1996 · Open in CIViC | civic |
| VHL Splice Site (c.464-1G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5343Blood samples from 5 Japanese families revealed 4 germline mutations. This mutation was found in a family of 10 individuals. Three VHL patients were identified with hemangioblastomas of the central ne… (full text at CIViC) PMID 8641976 · Kanno et al., 1996 · Open in CIViC | civic |