Publication
Von Hippel-Lindau disease: an evaluation of natural history and functional disability.
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 (22)
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 22
- geneVHLcivic_curation1.00
- variantVHL C162F (c.485G>T)civic_curation1.00
- variantVHL C162W (c.486C>G)civic_curation1.00
- variantVHL Deletioncivic_curation1.00
- variantVHL F136S (c.407T>C)civic_curation1.00
- variantVHL F76del (c.227_229del)civic_curation1.00
- variantVHL L153P (c.458T>C)civic_curation1.00
- variantVHL L169P (c.506T>C)civic_curation1.00
- variantVHL L184R (c.551T>G)civic_curation1.00
- variantVHL L188R (c.563T>G)civic_curation1.00
- variantVHL P138T (c.412C>A)civic_curation1.00
- variantVHL P154= (c.462A>C)civic_curation1.00
- variantVHL Q195* (c.583C>T)civic_curation1.00
- variantVHL R161* (c.481C>T)civic_curation1.00
- variantVHL R161G (c.481C>G)civic_curation1.00
- variantVHL R167L (c.500G>T)civic_curation1.00
- variantVHL R167Q (c.500G>A)civic_curation1.00
- variantVHL Rearrangementcivic_curation1.00
- variantVHL S183* (c.548C>A)civic_curation1.00
- variantVHL T157I (c.470C>T)civic_curation1.00
- variantVHL V155G (c.464T>G)civic_curation1.00
- variantVHL V170G (c.509T>G)civic_curation1.00
Curated evidence
Evidence citing this paper (42)
- 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
- 26763786
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL C162F (c.485G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6584A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL C162W (c.486C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6585A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL D126FS (c.375_376insC)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6572A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of tumours for specific mutations was pre… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID6597A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. A co… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL E52fs* (c.156G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | rejected | EID6555A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. The … (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL F136S (c.407T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6573A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL F76del (c.227_229del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 1 | accepted | EID6557A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. An i… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL G93C (c.277G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6563A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of tumours for specific mutations present… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL H115Y (c.343C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6570A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of tumours for specific mutations was pre… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL L153P (c.458T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6576A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL L169P (c.506T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6589A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. The … (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL L178P (c.533T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | submitted | EID6591A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations presented. The c.53… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL L184R (c.551T>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6593A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. The … (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL L188R (c.563T>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6595A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. The … (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL N141fs (c.422_440del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | submitted | EID6575A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL N78S (c.233A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6558A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of tumours for specific mutations presen… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL Null (Partial deletion)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6598A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. A pa… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL P103A (c.307C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6565A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of tumours for specific mutations present… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL P138T (c.412C>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID6574A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL P154= (c.462A>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6577A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL P86A (c.256C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6560A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of tumours for specific mutations presen… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL P86L (c.257C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6562A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of tumours for specific mutations present… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL P86S (c.256C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6561A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of tumours for specific mutations present… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL Q195* (c.583C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 1 | accepted | EID6596A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. The … (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL R113* (c.337C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | submitted | EID6566A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL R120G (c.358A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6571A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of tumours for specific mutations present… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL R161* (c.481C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6583A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL R161G (c.481C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6582A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL R167L (c.500G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6588A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. The … (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL R167Q (c.500G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID6587A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL R167W (c.499C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | submitted | EID6586A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL Rearrangement1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6599A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. A re… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL S183* (c.548C>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6592A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. The … (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL S65W (c.194C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | submitted | EID6556A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not availiable, but frequenecy of specific mutations was presented. Th… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL S80I (c.239G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6559A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of tumours for specific mutations was pr… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL Splice Site (c.341-1G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | submitted | EID6594A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL Splice Site (c.463+1G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | submitted | EID6578A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL T157I (c.470C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6581A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL V155G (c.464T>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6579A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL V170G (c.509T>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID6590A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations presented. The c.50… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL Y156_T157del (c.465_470del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | submitted | EID6580A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. This… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |
| VHL Y98C (c.293A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 1 | submitted | EID6564A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. The … (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · Open in CIViC | civic |