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Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations.

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Endocr Relat Cancer2014PMID 24132471stubpubmedProvenance
Source
PubMed
Retrieved
Sep 8, 2026
Layer
normalized (units and labels harmonized; values unchanged)
Run
ING-CIVIC-20260908-000001
Published

Abstract

Abstract (excerpt)

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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

Curated evidence

Evidence citing this paper (21)

civicProvenance
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
Open at source
CuratedShowing 1–21 of 21 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.
TherapyCancerTypeLevelDirection · significanceRating (1–5)StatusEvidenceSource
VHL 235 (CAG-TAG)1
(predisposing)Von Hippel-Lindau DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance3rejected
EID6524

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance3accepted
EID6504

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance3accepted
EID6510

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance3rejected
EID6508

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Predisposition3accepted
EID6523

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Predisposition2accepted
EID6503

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance3accepted
EID6512

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance3accepted
EID6507

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance3accepted
EID6513

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Predisposition3accepted
EID6505

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance3accepted
EID6511

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance3accepted
EID6520

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Predisposition3accepted
EID6519

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Predisposition3submitted
EID11024

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Predisposition3accepted
EID6525

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance3accepted
EID6509

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance3accepted
EID6514

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance3accepted
EID6518

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Predisposition3accepted
EID6522

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Uncertain Significance3accepted
EID6506

Data 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 DiseaseUNRESOLVEDPredisposingCSupports Predisposition3accepted
EID6516

Data 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