Publication
Genetic analysis of von Hippel-Lindau disease.
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 Exon 1-2 Deletioncivic_curation1.00
- variantVHL Exon 1-3 Deletioncivic_curation1.00
- variantVHL Exon 1 Deletioncivic_curation1.00
- variantVHL F148* (c.443_455delinsA)civic_curation1.00
- variantVHL F76del (c.227_229del)civic_curation1.00
- variantVHL G144* (c.430G>T)civic_curation1.00
- variantVHL R161* (c.481C>T)civic_curation1.00
- variantVHL R167W (c.499C>T)civic_curation1.00
- variantVHL V166F (c.496G>T)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
- 20151405
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL C162W (c.486C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID10125This study reports 1,548 germline and somatic mutations from 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). This mutation was detected by di… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL Exon 1-2 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID1944This study reports 1,548 germline and somatic mutations from 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). This exon 1-2 deletion was detec… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL Exon 1-3 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID1942Mutation detected in 4 separate cases. Two cases show CNS hemangioblastoma, pancreatic/hepatic/renal cysts, and renal cell carcinoma. One case shows CNS hemangioblastoma, pancreatic cysts, and Grawitz… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL Exon 1 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID1943This study reports 1,548 germline and somatic mutations from 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). This exon 1 deletion was detecte… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL Exon 2 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | submitted | EID5754This study reports 1,548 germline and somatic mutations from 945 VHL families. This mutation was found in 2 VHL patients. One had many pancreatic and renal cysts, renal cell carcinoma, and hemangiobla… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL Exon 3 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID5759This study reports 1,548 germline and somatic mutations from 945 VHL families. This mutation was found in a VHL patient (case no. 195). No phenotype described. ACMG evidence codes: 'PP2' because they … (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL F136S (c.407T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID5757This study reports 1,548 germline and somatic mutations from 945 VHL families. This missense mutation was found in a VHL patient with renal cell carcinoma (case no. 481). ACMG evidence codes: 'PP2' be… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL F148* (c.443_455delinsA)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID8608This study reports 1,548 germline and somatic mutations from 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). This mutation was detected by di… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL F76del (c.227_229del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5750This study reports 1,548 germline and somatic mutations from 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). This exon was detected in a VHL … (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL G144* (c.430G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID8607This study reports 1,548 germline and somatic mutations from 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). This mutation was detected by di… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL H115Q (c.345C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID5755This study reports 1,548 germline and somatic mutations from 945 VHL families. This mutation was found in a VHL patient (case no. 33912). Phenotype not described. ACMG evidence codes: 'PP2' because th… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL I151S (c.452T>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID8604This study reports 1,548 germline and somatic mutations from 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). This mutation was detected by di… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL L89P (c.266T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5753This study reports 1,548 germline and somatic mutations from 945 VHL families. This mutation was found in a patient with hemangioblastomas of the central nervous system, renal cell carcinoma, pancreat… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL P86S (c.256C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5752This study reports 1,548 germline and somatic mutations from 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). This mutation was detected by di… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL R120G (c.358A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | submitted | EID5756This study reports 1,548 germline and somatic mutations from 945 VHL families. This novel mutation was found in 2 VHL patients with hemangioblastomas of the central nervous system and pheochromocytoma… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL R161* (c.481C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID5761This study reports 1,548 germline and somatic mutations from 945 VHL families. This nonsense mutation was found in a VHL patient with retinal angiomas and pancreatic cysts (case no. 306). There is ver… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL R167Q (c.500G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5762This study reports 1,548 germline and somatic mutations from 945 VHL families. This mutation was found in a Belgian and Turkish family. The Turkish family had family members with bilateral pheochromoc… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL R167W (c.499C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID8605This study reports 1,548 germline and somatic mutations from 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). This mutation was detected by di… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL R200W (c.598C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | submitted | EID5763This study reports 1,548 germline and somatic mutations from 945 VHL families. This mutation was found in a homozygous patient with congenital polycythemia (case no. 37784). ACMG evidence codes: 'PP2'… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL R82L (c.245G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5751This study reports 1,548 germline and somatic mutations from 945 VHL families. This novel mutation was found in a patient with pheochromocytoma (case no. 393). ACMG evidence codes: 'PP2' because they … (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL V166F (c.496G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID8606This study reports 1,548 germline and somatic mutations from 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). This mutation was detected by di… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL W117Cfs*42 (c.351del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | submitted | EID8603This study reports 1,548 germline and somatic mutations from 945 VHL families. This frameshift mutation was detected as sporadic germline in case no. 198 with hemangioblastoma of the central nervous s… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL W117R (c.349T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID10124This study reports 1,548 germline and somatic mutations from 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). This mutation was detected by di… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
| VHL Y156C (c.467A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5760This study reports 1,548 germline and somatic mutations from 945 VHL families. This missense mutation was found in a VHL patient with pheochromocytoma (case no. 523). ACMG evidence codes: 'PP2' becaus… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |