Publication
Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations.
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 (19)
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 19
- geneVHLcivic_curation1.00
- variantVHL c.−213− ?_463 ?delcivic_curation1.00
- variantVHL c.341-59_341-14delcivic_curation1.00
- variantVHL E189fs (c.565del)civic_curation1.00
- variantVHL E70K (c.208G>A)civic_curation1.00
- variantVHL F136S (c.407T>C)civic_curation1.00
- variantVHL G93S (c.277G>A)civic_curation1.00
- variantVHL P154= (c.462A>C)civic_curation1.00
- variantVHL P81S (c.241C>T)civic_curation1.00
- variantVHL R120G (c.358A>G)civic_curation1.00
- variantVHL R167Q (c.500G>A)civic_curation1.00
- variantVHL R167W (c.499C>T)civic_curation1.00
- variantVHL Rearrangementcivic_curation1.00
- variantVHL Splice Site (c.340+1G>A)civic_curation1.00
- variantVHL Splice Site (c.463+2T>C)civic_curation1.00
- variantVHL V166A (c.497T>C)civic_curation1.00
- variantVHL V170D (c.509T>A)civic_curation1.00
- variantVHL V87fs (c.259_260insA)civic_curation1.00
- variantVHL Y156C (c.467A>G)civic_curation1.00
Curated evidence
Evidence citing this paper (21)
- 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
- 24132471
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL 235 (CAG-TAG)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | rejected | EID6524Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this mutation in the VHL gene. The patient was 63Y at the last follow-up and presente… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL c.−213− ?_463 ?del1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID6504Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. Four patients were found with this deletion in the VHL gene. Their age at last follow-up was presented as a rang… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL c.341-59_341-14del1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID6510Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. Two patients were found with this deletion in the VHL gene. One patient was 33Y and the other was 67Y at the las… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL c.89c2971 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | rejected | EID6508Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. This mutation was found in 25 patients. The age at last follow-up was presented as a range 17-70 and phenotypes … (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL E189fs (c.565del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID6523Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this frameshift mutation in the VHL gene. The patient was 30Y at the last follow-up a… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL E70K (c.208G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID6503Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient age 20Y at the last follow-up had retinal hemangioblastoma and a germline c.208G>A (p.Glu70Lys) muta… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL F136S (c.407T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID6512Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this missense varaint in the VHL gene. The patient was 41Y at the last follow-up and … (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL G93S (c.277G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID6507Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. Two patients were found with this missense mutation in the VHL gene. One patient was 35Y and the other was 60Y a… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL P154= (c.462A>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID6513Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this missense varaint in the VHL gene. The patient was 71Y at the last follow-up and … (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL P81S (c.241C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID6505Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. Two patients were found with this missense mutation in the VHL gene. One patient was 34Y and the other was 59Y a… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL R120G (c.358A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID6511Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this missense varaint in the VHL gene. The patient was 15Y at the last follow-up and … (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL R167Q (c.500G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID6520Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. Eleven patients were found with this missense varaint in the VHL gene. The ages of the patient was represented a… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL R167W (c.499C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID6519Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with VHL R167W (c.499C>T). The patient was 43Y at the last follow-up and presented with: r… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL R79C (c.235C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID11024Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this mutation in the VHL gene c.235C>T, p.Arg79Cys (stated as c.235 CAG-TAG in the pa… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL Rearrangement1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID6525Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with a VHL rearrangment determined by a southern blot. The patient was 25Y at the last fol… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL Splice Site (c.340+1G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID6509Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this splice varaint in the VHL gene. The patient was 32Y at the last follow-up and pr… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL Splice Site (c.463+2T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID6514Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this splice varaint in the VHL gene. The patient was 31Y at the last follow-up and pr… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL V166A (c.497T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID6518Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this missense varaint in the VHL gene. The patient was 27Y at the last follow-up and … (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL V170D (c.509T>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID6522Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. 15 patients were found with this missense varaint in the VHL gene. The ages of the patients were represented as … (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL V87fs (c.259_260insA)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID6506Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this insertion in the VHL gene. The patient was 42Y at the last follow-up and present… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |
| VHL Y156C (c.467A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID6516Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. Seven patients were found with this missense varaint in the VHL gene. The ages of the patients was represented a… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC | civic |