Publication
High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil.
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 (10)
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 10
- geneVHLcivic_curation1.00
- variantVHL E94* (c.280G>T)civic_curation1.00
- variantVHL F136S (c.407T>C)civic_curation1.00
- variantVHL H115fs (c.344del)civic_curation1.00
- variantVHL P102fs (c.305delC)civic_curation1.00
- variantVHL P146fs (c.437del)civic_curation1.00
- variantVHL R167Q(c.500G>A) and c.464-94T>Acivic_curation1.00
- variantVHL R167W (c.499C>T)civic_curation1.00
- variantVHL S80R (c.238A>C)civic_curation1.00
- variantVHL W88R (c.262T>C)civic_curation1.00
Curated evidence
Evidence citing this paper (24)
- 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
- 12624160
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL c.340+7G>A1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID8659Germline mutations were found in twenty VHL probands and their families, of whom 17 presented with a family history (15 from Brazil, one from Portugal, and one from Ecuador) . An intronic variant, c.3… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID8648Germline mutations were found in 20 Brazilian, VHL probands and their families. A complete deletion of VHL was found in a family of 6 affected individuals. Four of the family members had CNS hemangiob… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL E94* (c.280G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID5550Germline mutations were found in 20 Brazilian, VHL probands and their families. This nonsense mutation was found in a VHL type 1 family of 3 affected individuals. All three family members had retinal … (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL F136S (c.407T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5543Germline mutations were found in 20 Brazilian, VHL probands and their families. This missense mutation was found in a VHL type 1 family of 8 affected individuals (VHL family 12). Seven had hemangiobla… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL F76del (c.227_229del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5540Germline mutations were found in 20 Brazilian, VHL probands and their families. This mutation was found in a VHL type 1 family of 5 affected individuals (VHL family 1). Four patients had hemangioblast… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL H115fs (c.344del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID5553Germline mutations were found in 20 Brazilian, VHL probands and their families. This mutstaion was found in a VHL type 1 family of 3 affected individuals (VHL family 9). One had hemangioblastomas of t… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL H115Pfs*44(c.344delA) and P61=(c.183C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID10675Germline mutations were found in 20 Brazilian, VHL probands and their families. Peripheral blood samples were taken and genomic DNA was sequenced using PCR and Southern Blotting. The three exons of th… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL L101R (c.302T>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID5551Germline mutations were found in 20 Brazilian, VHL probands and their families. This missense mutation was found in 2 affected family members with hemangioblastomas of the central nervous system (VHL … (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL Null (Partial deletion)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID8647Germline mutations were found in 20 Brazilian, VHL probands and their families. A partial deletion of VHL was found in a family of 10 affected individuals. All ten family members had CNS hemangioblast… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL P102fs (c.305delC)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID5554Germline mutations were found in 20 Brazilian, VHL probands and their families. This mutation causes a premature stop codon at amino acid 142 and was found in a VHL type 1 patient with hemangioblastom… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL P146fs (c.437del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5544Germline mutations were found in 20 Brazilian, VHL probands and their families. This mutation causes a premature stop codon at amino acid 158 and was found in a VHL type 1 patient with hemangioblastom… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL P61= (c.183C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID5555Germline mutations were found in 20 Brazilian, VHL probands and their families. This silent mutation was described as a polymorphism (VHL family 9, 17). PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL Partial Deletion and P61=( c.183C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID10679Germline mutations were found in 20 Brazilian, VHL probands and their families. Peripheral blood samples were taken and genomic DNA was sequenced using PCR and Southern Blotting. The three exons of th… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL R107P (c.320G>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID5552Germline mutations were found in 20 Brazilian, VHL probands and their families. This missense mutation was found in a VHL type 1 patient with hemangioblastomas of the central nervous system (VHL famil… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL R167Q(c.500G>A) and c.464-94T>A2 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5546Germline mutations were found in 20 Brazilian, VHL probands and their families. Peripheral blood samples were taken and genomic DNA was sequenced using PCR and Southern Blotting. The three exons of th… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID10743Germline mutations were found in 20 Brazilian, VHL probands and their families. Peripheral blood samples were taken and genomic DNA was sequenced using PCR and Southern Blotting. The three exons of th… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL R167W (c.499C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID5545Germline mutations were found in 20 Brazilian, VHL probands and their families. This missense mutation was found in 2 affected family members with pheochromocytoma (VHL family 15). One also had hemang… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL S80R (c.238A>C)2 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID5547Germline mutations were found in 20 Brazilian, VHL probands and their families. This missense mutation was found in a VHL type 1 family of 10 affected individuals (VHL family 2). Seven had hemangiobla… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID5548Germline mutations were found in 20 Brazilian, VHL probands and their families. This missense mutation was found in a VHL type 1 family of 10 affected individuals (VHL family 2). Seven had hemangiobla… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL Splice Site (c.463+1G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID8660Germline mutations were found in twenty VHL probands and their families, of whom 17 presented with a family history (15 from Brazil, one from Portugal, and one from Ecuador) . An intronic variant, c.4… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL Splice Site (c.463+1G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID9423Germline mutations were found in 20 Brazilian, VHL probands and their families. Peripheral blood samples were taken and genomic DNA was sequenced using PCR and Southern Blotting. The three exons of th… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL T124I (c.371C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5541Germline mutations were found in 20 Brazilian, VHL probands and their families. This missense mutation was found in a VHL type 2C patient with pheochromocytomas (VHL family 10). This patient's phenoty… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL V130F (c.388G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5542Germline mutations were found in 20 Brazilian, VHL probands and their families. This missense mutation was found in a VHL type 1 family of 14 affected individuals (VHL family 11). Seven patients had h… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |
| VHL W88R (c.262T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID5549Germline mutations were found in 20 Brazilian, VHL probands and their families. This missense mutation was found in 2 VHL family members (VHL family 3). One had hemangioblastomas of the central nervou… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC | civic |