Publication
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic 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 (47)
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 47
- geneVHLcivic_curation1.00
- variantVHL C162W (c.486C>G)civic_curation1.00
- variantVHL E52K (c.154G>A)civic_curation1.00
- variantVHL E55= (c.165G>A)civic_curation1.00
- variantVHL E70K (c.208G>A)civic_curation1.00
- variantVHL F136S (c.407T>C)civic_curation1.00
- variantVHL F76del (c.227_229del)civic_curation1.00
- variantVHL F91L (c.273C>G)civic_curation1.00
- variantVHL G104A (c.311G>C)civic_curation1.00
- variantVHL G104= (c.312C>G)civic_curation1.00
- variantVHL H115Q (c.345C>G)civic_curation1.00
- variantVHL H191FS (c.571delC)civic_curation1.00
- variantVHL K159fs (c.473dup)civic_curation1.00
- variantVHL L118P (c.353T>C)civic_curation1.00
- variantVHL L140fs (c.417_418delTC)civic_curation1.00
- variantVHL L158P (c.473T>C)civic_curation1.00
- variantVHL L188P (c.563T>C)civic_curation1.00
- variantVHL M54fs (c.161dup)civic_curation1.00
- variantVHL N131K (c.393C>A)civic_curation1.00
- variantVHL P154= (c.462A>C)civic_curation1.00
- variantVHL P71fs (c.211insT)civic_curation1.00
- variantVHL P86S (c.256C>T)civic_curation1.00
- variantVHL Q73* (c.217C>T)civic_curation1.00
- variantVHL Q96* (c.286C>T)civic_curation1.00
- variantVHL R113* (c.337C>T)civic_curation1.00
- variantVHL R161* (c.481C>T)civic_curation1.00
- variantVHL R161Q (c.482G>A)civic_curation1.00
- variantVHL R167Q (c.500G>A)civic_curation1.00
- variantVHL R167W (c.499C>T)civic_curation1.00
- variantVHL R177ins (c.531insCTGAGAGTAAAGCCTGAA)civic_curation1.00
- variantVHL R60FS (c.179delG)civic_curation1.00
- variantVHL R82P (c.245G>C)civic_curation1.00
- variantVHL S65L (c.194C>T)civic_curation1.00
- variantVHL S80N (c.239G>A)civic_curation1.00
- variantVHL S80R (c.238A>C)civic_curation1.00
- variantVHL T105P (c.313A>C)civic_curation1.00
- variantVHL T157I (c.470C>T)civic_curation1.00
- variantVHL V130L (c.388G>C)civic_curation1.00
- variantVHL V166F (c.496G>T)civic_curation1.00
- variantVHL V170G (c.509T>G)civic_curation1.00
- variantVHL V66del (c.197_220del)civic_curation1.00
- variantVHL W117C (c.351G>T)civic_curation1.00
- variantVHL W88S (c.263G>C)civic_curation1.00
- variantVHL Y156* (c.468T>G)civic_curation1.00
- variantVHL Y156C (c.467A>G)civic_curation1.00
- variantVHL Y156D (c.466T>G)civic_curation1.00
- variantVHL Y175* (c.525C>G)civic_curation1.00
Curated evidence
Evidence citing this paper (56)
50 items per 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
- 9829912
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL W117C (c.351G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5295Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in 4 VHL type 1 family members (patient no. V… (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in CIViC | civic |
| VHL W88S (c.263G>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5296Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 1 patient (patient no. V266). N… (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in CIViC | civic |
| VHL Y156* (c.468T>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5299Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation was found in a VHL type 1 patient (patient no. V41). This study … (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in CIViC | civic |
| VHL Y156C (c.467A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5298Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 1 patient (patient no. V265). O… (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in CIViC | civic |
| VHL Y156D (c.466T>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5297Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 2B patient (patient no.V87). No… (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in CIViC | civic |
| VHL Y175* (c.525C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5300Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation was found in a VHL type 1 patient (patient no. V63). This study … (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in CIViC | civic |