Publication
Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma.
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 E55* (c.163G>T)civic_curation1.00
- variantVHL Q195* (c.583C>T)civic_curation1.00
- variantVHL Splice Site (c.340+1G>A)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
- 23298237
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL E55* (c.163G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4898Genetic analysis of 7 Hungarian individuals from 5 unrelated families affected with type von Hippel-Lindau disease revealed 5 different mutations, 3 of which were novel. The mutations could not be fou… (full text at CIViC) PMID 23298237 · Losonczy et al., 2013 · Open in CIViC | civic |
| VHL N78Y (c.232A>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5688Genetic analysis of 7 Hungarian individuals from 5 unrelated families affected with von Hippel-Lindau disease revealed 5 different mutations, 3 of which were novel. The mutations could not be found wi… (full text at CIViC) PMID 23298237 · Losonczy et al., 2013 · Open in CIViC | civic |
| VHL Q195* (c.583C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5691Genetic analysis of 7 Hungarian individuals from 5 unrelated families affected with von Hippel-Lindau disease revealed 5 different mutations, 3 of which were novel. All 7 patients were found to have T… (full text at CIViC) PMID 23298237 · Losonczy et al., 2013 · Open in CIViC | civic |
| VHL Splice Site (c.340+1G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID5689Genetic analysis of 7 Hungarian individuals from 5 unrelated families affected with von Hippel-Lindau disease revealed 5 different mutations, 3 of which were novel. The mutations could not be found wi… (full text at CIViC) PMID 23298237 · Losonczy et al., 2013 · Open in CIViC | civic |
| VHL Y185* (c.555C>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5690Genetic analysis of 7 Hungarian individuals from 5 unrelated families affected with von Hippel-Lindau disease revealed 5 different mutations, 3 of which were novel. The mutations could not be found wi… (full text at CIViC) PMID 23298237 · Losonczy et al., 2013 · Open in CIViC | civic |