Publication
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS 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)
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Linked entities
Linked entities (2)
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 2
- geneVHLcivic_curation1.00
- variantVHL E70K (c.208G>A)civic_curation1.00
Curated evidence
Evidence citing this paper (10)
- 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
- 27439424
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL E70K (c.208G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID6742Thirteen unrelated Korean subjects and their family members were tested for VHL mutations with direct sequencing and multiplex ligation dependent probe amplification. Clinical manifestations and famil… (full text at CIViC) PMID 27439424 · Lee et al., 2016 · Open in CIViC | civic |
| VHL EXON 2-3 DELETION1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID6750Direct sequencing and multiplex ligation dependent probe amplification were performed on thirteen unrelated subjects with VHL mutations. The clinical manifestations and family histories of the subject… (full text at CIViC) PMID 27439424 · Lee et al., 2016 · Open in CIViC | civic |
| VHL F76del (c.227_229del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6743Direct sequencing and multiplex ligation dependent probe amplification were performed on thirteen unrelated subjects with VHL mutations. The clinical manifestations and family histories of the subject… (full text at CIViC) PMID 27439424 · Lee et al., 2016 · Open in CIViC | civic |
| VHL L198fs (c.592del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID6749Direct sequencing and multiplex ligation dependent probe amplification were performed on thirteen unrelated subjects with VHL mutations. The clinical manifestations and family histories of the subject… (full text at CIViC) PMID 27439424 · Lee et al., 2016 · Open in CIViC | civic |
| VHL M54Gfs*77 (c.160_161delAT)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6741Direct sequencing and multiplex ligation dependent probe amplification were performed on thirteen unrelated subjects with VHL mutations. The clinical manifestations and family histories of the subject… (full text at CIViC) PMID 27439424 · Lee et al., 2016 · Open in CIViC | civic |
| VHL N78D (c.232A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6744Direct sequencing and multiplex ligation dependent probe amplification were performed on thirteen unrelated subjects with VHL mutations. The clinical manifestations and family histories of the subject… (full text at CIViC) PMID 27439424 · Lee et al., 2016 · Open in CIViC | civic |
| VHL N78S (c.233A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6745Direct sequencing and multiplex ligation dependent probe amplification were performed on thirteen unrelated subjects with VHL mutations. The clinical manifestations and family histories of the subject… (full text at CIViC) PMID 27439424 · Lee et al., 2016 · Open in CIViC | civic |
| VHL R167Q (c.500G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6748"Direct sequencing and multiplex ligation dependent probe amplification were performed on thirteen unrelated subjects with VHL mutations. The clinical manifestations and family histories of the subjec… (full text at CIViC) PMID 27439424 · Lee et al., 2016 · Open in CIViC | civic |
| VHL R167W (c.499C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6747Direct sequencing and multiplex ligation dependent probe amplification were performed on thirteen unrelated subjects with VHL mutations. The clinical manifestations and family histories of the subject… (full text at CIViC) PMID 27439424 · Lee et al., 2016 · Open in CIViC | civic |
| VHL Splice Site (c.464-1G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6746Direct sequencing and multiplex ligation dependent probe amplification were performed on thirteen unrelated subjects with VHL mutations. The clinical manifestations and family histories of the subject… (full text at CIViC) PMID 27439424 · Lee et al., 2016 · Open in CIViC | civic |