Publication
Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.
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 (13)
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 13
- geneVHLcivic_curation1.00
- variantVHL 3'UTR alteration (c.*70C>A)civic_curation1.00
- variantVHL E94* (c.280G>T)civic_curation1.00
- variantVHL Exon 3 Deletioncivic_curation1.00
- variantVHL F76del (c.227_229del)civic_curation1.00
- variantVHL H115R (c.344A>G)civic_curation1.00
- variantVHL I151F (c.451A>T)civic_curation1.00
- variantVHL L178R (c.533T>G)civic_curation1.00
- variantVHL P86S (c.256C>T)civic_curation1.00
- variantVHL R161= (c.481C>A)civic_curation1.00
- variantVHL R167W (c.499C>T)civic_curation1.00
- variantVHL S65W (c.194C>G)civic_curation1.00
- variantVHL W88* (c.263G>A)civic_curation1.00
Curated evidence
Evidence citing this paper (13)
- 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
- 22357542
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL 3'UTR alteration (c.*70C>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5777Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This mutation was found in a 30-year-old VHL patient with hemangioblastomas of the central ne… (full text at CIViC) PMID 22357542 · Wu et al., 2012 · Open in CIViC | civic |
| VHL E94* (c.280G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5771Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This nonsense mutation was found in 2 unrelated families. One family of 3 had a asymptomatic … (full text at CIViC) PMID 22357542 · Wu et al., 2012 · Open in CIViC | civic |
| VHL Exon 3 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5767Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This mutation was found in 3 family members and an unrelated patient. All three family member… (full text at CIViC) PMID 22357542 · Wu et al., 2012 · Open in CIViC | civic |
| VHL F76del (c.227_229del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5766Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This mutation was found in a 42-year-old VHL patient with hemangioblastomas of the central ne… (full text at CIViC) PMID 22357542 · Wu et al., 2012 · Open in CIViC | civic |
| VHL H115R (c.344A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5772Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This missense mutation was found in a 45-year-old VHL type 1 patient with hemangioblastomas o… (full text at CIViC) PMID 22357542 · Wu et al., 2012 · Open in CIViC | civic |
| VHL I151F (c.451A>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5773Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This missense mutation was found in a 43-year-old VHL type 1 patient with renal cell carcinom… (full text at CIViC) PMID 22357542 · Wu et al., 2012 · Open in CIViC | civic |
| VHL L178R (c.533T>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5774Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This missense mutation was found in a VHL family of 6 individuals (proband no. 7). A 62-year-… (full text at CIViC) PMID 22357542 · Wu et al., 2012 · Open in CIViC | civic |
| VHL N90I (c.269A>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID5770Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This missense mutation was found in a family of 6 individuals. Four family members had hemang… (full text at CIViC) PMID 22357542 · Wu et al., 2012 · Open in CIViC | civic |
| VHL P86S (c.256C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5775Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline variants. VHL P86S (c.256C>T) was found in a type 2B VHL patient (proband no. 2). The 33-year-old proban… (full text at CIViC) PMID 22357542 · Wu et al., 2012 · Open in CIViC | civic |
| VHL R161= (c.481C>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5768Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This silent mutation was found in a 34-year-old VHL patient with hemangioblastomas of the cen… (full text at CIViC) PMID 22357542 · Wu et al., 2012 · Open in CIViC | civic |
| VHL R167W (c.499C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5769Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This missense mutation was found in 4 VHL family members (proband no. 6). The 65-year-old fat… (full text at CIViC) PMID 22357542 · Wu et al., 2012 · Open in CIViC | civic |
| VHL S65W (c.194C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5765Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This missense mutation was found in a 40 year old type 1 VHL patient with hemangioblastomas o… (full text at CIViC) PMID 22357542 · Wu et al., 2012 · Open in CIViC | civic |
| VHL W88* (c.263G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5776Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This nonsense mutation was found in 2 unrelated VHL type 1 families. One family had a 32-year… (full text at CIViC) PMID 22357542 · Wu et al., 2012 · Open in CIViC | civic |