Publication
von Hippel-Lindau development in children and adolescents.
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 (2)
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 2
- geneVHLcivic_curation1.00
- variantVHL S65W (c.194C>G)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
- 28650583
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL Exon 1-2 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID635537 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 1 patient (Fa… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL Exon 1 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID635837 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 3 patients (F… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL Exon 2-3 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID634937 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. 2 families each with 1 patien… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL Exon 2 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID1021437 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. 2 families each with 1 patien… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL Exon 3 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID636037 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 4 patients (F… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL F136S (c.407T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID634737 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 1 patient (Fa… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL G93D (c.278G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID634637 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 4 patients (F… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL L118P (c.353T>C) and R107G (c.319C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID635137 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 1 patient (Fa… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL Q145* (c.433C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID634837 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 3 patients (F… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL Q203TfsX53 (c.606dupA)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID635937 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 1 patient (Fa… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL R113* (c.337C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID635337 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with one patient … (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL R161* (c.481C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID635637 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 1 patient (Fa… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL R167Q (c.500G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID634437 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 3 patients (F… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL R167W (c.499C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID635037 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 2 patients (… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL S65W (c.194C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID635237 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. Two families (Family ID 9 an… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL V130I (c.388G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID634537 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 2 patients (F… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL V166F (c.496G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID635737 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 3 patients (F… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |
| VHL Y98C (c.293A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID635437 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 1 patient (Fa… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · Open in CIViC | civic |