Publication
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
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 (52)
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 52
- geneVHLcivic_curation1.00
- variantVHL A149T (c.445G>A)civic_curation1.00
- variantVHL C162F (c.485G>T)civic_curation1.00
- variantVHL C162R (c.484T>C)civic_curation1.00
- variantVHL C162W (c.486C>G)civic_curation1.00
- variantVHL E186* (c.556G>T)civic_curation1.00
- variantVHL E186K (c.556G>A)civic_curation1.00
- variantVHL E55fs (c.163delG)civic_curation1.00
- variantVHL E70* (c.208G>T)civic_curation1.00
- variantVHL F119L (c.357C>G)civic_curation1.00
- variantVHL F76del (c.227_229del)civic_curation1.00
- variantVHL G114R (c.340G>C)civic_curation1.00
- variantVHL G93D (c.278G>A)civic_curation1.00
- variantVHL H115Q (c.345C>A)civic_curation1.00
- variantVHL L129Q (c.386insAGA)civic_curation1.00
- variantVHL L135* (c.404T>A)civic_curation1.00
- variantVHL L158P (c.473T>C)civic_curation1.00
- variantVHL L178P (c.533T>C)civic_curation1.00
- variantVHL L184P (c.551T>C)civic_curation1.00
- variantVHL L188Q (c.563T>A)civic_curation1.00
- variantVHL N150fs (c.448delA)civic_curation1.00
- variantVHL N150fs (c.449del)civic_curation1.00
- variantVHL N78H (c.232A>C)civic_curation1.00
- variantVHL N78S (c.233A>G)civic_curation1.00
- variantVHL N78T (c.233A>C)civic_curation1.00
- variantVHL Null (Large deletion)civic_curation1.00
- variantVHL P154fs (c.462delA)civic_curation1.00
- variantVHL P86A (c.256C>G)civic_curation1.00
- variantVHL P86fs (c.254_255insC)civic_curation1.00
- variantVHL P86L (c.257C>T)civic_curation1.00
- variantVHL Q164R (c.491A>G)civic_curation1.00
- variantVHL Q73* (c.217C>T)civic_curation1.00
- variantVHL R161Q (c.482G>A)civic_curation1.00
- variantVHL R167fs (c.502insTTGTCCGT)civic_curation1.00
- variantVHL R167Q (c.500G>A)civic_curation1.00
- variantVHL R167W (c.499C>T)civic_curation1.00
- variantVHL R176fs (c.526del)civic_curation1.00
- variantVHL R82_V84del (c.244_252del)civic_curation1.00
- variantVHL S111FS (c.331delA)civic_curation1.00
- variantVHL S111N (c.332G>A)civic_curation1.00
- variantVHL S111R (c.333C>G)civic_curation1.00
- variantVHL S65W (c.194C>G)civic_curation1.00
- variantVHL S80I (c.239G>T)civic_curation1.00
- variantVHL T157I (c.470C>T)civic_curation1.00
- variantVHL V166D (c.497T>A)civic_curation1.00
- variantVHL V62Cfs*5 (c.180del)civic_curation1.00
- variantVHL V87fs (c.255_256insC)civic_curation1.00
- variantVHL W117C (c.351G>T)civic_curation1.00
- variantVHL W88R (c.262T>A)civic_curation1.00
- variantVHL Y112* (c.336C>A)civic_curation1.00
- variantVHL Y112H (c.334T>C)civic_curation1.00
- variantVHL Y98H (c.292T>C)civic_curation1.00
Curated evidence
Evidence citing this paper (52)
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
- 7728151
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL Y112H (c.334T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID6428In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL Y98H (c.292T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4906In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. Misse… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |