Publication
Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.
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 A149fs (c.445del)civic_curation1.00
- variantVHL C162Y (c.485G>A)civic_curation1.00
- variantVHL K159fs (c.477_478insCA)civic_curation1.00
- variantVHL N78I (c.233A>T)civic_curation1.00
- variantVHL N78S (c.233A>G)civic_curation1.00
- variantVHL P25L (c.74C>T)civic_curation1.00
- variantVHL Q73FS (c.217delC)civic_curation1.00
- variantVHL R161* (c.481C>T)civic_curation1.00
- variantVHL R167Q (c.500G>A)civic_curation1.00
- variantVHL S111R (c.333C>G)civic_curation1.00
- variantVHL S65L (c.194C>T)civic_curation1.00
- variantVHL W88FS (c.263_265delGGCinsTT)civic_curation1.00
Curated evidence
Evidence citing this paper (18)
- 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
- 12114495
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL A149fs (c.445del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5501A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detected in 4 probands fulfilling clinical criteria for von Hippel-Lindau disease (VHLD). This mutation was… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL C162Y (c.485G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5493A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detected in 4 probands fulfilling clinical criteria for von Hippel-Lindau disease (VHLD). This missense mut… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID10005A study of 34 Polish families revealed germline mutations in 30 families using DNA isolated from peripheral blood luykocytes to sequence through PCR and Quantitative Southern analysis. Mutations were … (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL Exon 1 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | submitted | EID10008A study of 34 Polish families revealed germline mutations in 30 families using DNA isolated from peripheral blood luykocytes to sequence through PCR and Quantitative Southern analysis. Mutations were … (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL EXON 2-3 DELETION1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | submitted | EID10007A study of 34 Polish families revealed germline mutations in 30 families using DNA isolated from peripheral blood luykocytes to sequence through PCR and Quantitative Southern analysis. Mutations were … (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL Exon 2 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | submitted | EID10009A study of 34 Polish families revealed germline mutations in 30 families using DNA isolated from peripheral blood luykocytes to sequence through PCR and Quantitative Southern analysis. Mutations were … (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL Exon 3 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | submitted | EID10006A study of 34 Polish families revealed germline mutations in 30 families using DNA isolated from peripheral blood luykocytes to sequence through PCR and Quantitative Southern analysis. Mutations were … (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL F76del (c.227_229del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID5497A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detected in 4 probands fulfilling clinical criteria for von Hippel-Lindau disease (VHLD). This mutation was… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL K159fs (c.477_478insCA)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5496A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detected in 4 probands fulfilling clinical criteria for von Hippel-Lindau disease (VHLD). This mutation was… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL N78I (c.233A>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5489A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detected in 4 probands fulfilling clinical criteria for von Hippel-Lindau disease (VHLD). This missense mut… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL N78S (c.233A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5491A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detected in 4 probands fulfilling clinical criteria for von Hippel-Lindau disease (VHLD). This missense mut… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL P25L (c.74C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID1949Mutation was detected in three unaffected members of Polish VHL families. Described as being in the non-conserved portion of the VHL coding region where mutations are not typically seen according to t… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL Q73FS (c.217delC)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5500A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detected in 4 probands fulfilling clinical criteria for von Hippel-Lindau disease (VHLD). This mutation was… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL R161* (c.481C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5483A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detected in 4 probands fulfilling clinical criteria for von Hippel-Lindau disease (VHLD). This nonsense mut… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL R167Q (c.500G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5487A study of 34 Polish families revealed germline mutations in 30 families, using DNA isolated from peripheral blood luykocytes to sequence through PCR and Quantitative Southern analysis. Mutations were… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL S111R (c.333C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5498A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detected in 4 probands fulfilling clinical criteria for von Hippel-Lindau disease (VHLD). This missense mut… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL S65L (c.194C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5499A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detected in 4 probands fulfilling clinical criteria for von Hippel-Lindau disease (VHLD). This missense mut… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |
| VHL W88FS (c.263_265delGGCinsTT)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5495A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detected in 4 probands fulfilling clinical criteria for von Hippel-Lindau disease (VHLD). This mutation was… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC | civic |