Publication
Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.
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- PubMed
- Retrieved
- Sep 8, 2026
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- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
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Linked entities
Linked entities (28)
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 28
- cancerRenal Cell Carcinomacivic_curation1.00
- geneVHLcivic_curation1.00
- variantVHL C162W (c.486C>G)civic_curation1.00
- variantVHL C77_N78insL (c.230_231insTCT)civic_curation1.00
- variantVHL E70* (c.208G>T)civic_curation1.00
- variantVHL H115R (c.344A>G)civic_curation1.00
- variantVHL H115Y (c.343C>T)civic_curation1.00
- variantVHL L129fs (c.384delT)civic_curation1.00
- variantVHL L178Q (c.533T>A)civic_curation1.00
- variantVHL L89P (c.266T>C)civic_curation1.00
- variantVHL N78S (c.233A>G)civic_curation1.00
- variantVHL P81S (c.241C>T)civic_curation1.00
- variantVHL Q132* (c.394C>T)civic_curation1.00
- variantVHL Q164* (c.490C>T)civic_curation1.00
- variantVHL Q195* (c.583C>T)civic_curation1.00
- variantVHL R113* (c.337C>T)civic_curation1.00
- variantVHL R161* (c.481C>T)civic_curation1.00
- variantVHL R161G (c.481C>G)civic_curation1.00
- variantVHL R167Q (c.500G>A)civic_curation1.00
- variantVHL S183* (c.548C>A)civic_curation1.00
- variantVHL S80N (c.239G>A)civic_curation1.00
- variantVHL Splice Site (c.463+1G>C)civic_curation1.00
- variantVHL Splice Site (c.463+2T>C)civic_curation1.00
- variantVHL Splice Site (c.464-1G>A)civic_curation1.00
- variantVHL Splice Site (c.464-2A>G)civic_curation1.00
- variantVHL Splice Site (c.464-2A>T)civic_curation1.00
- variantVHL V74G (c.221T>G)civic_curation1.00
- variantVHL Y98H (c.292T>C)civic_curation1.00
Curated evidence
Evidence citing this paper (29)
- 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
- 8707293
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL R161* (c.481C>T)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID5375Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in 2 unrelated, German families. One VHL type 1 family of 2 affected individuals ha… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL S183* (c.548C>A)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID5370Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in 3 Italian, VHL type 1 family members. Two had retinal angiomas, 2 had hemangiobl… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL S80N (c.239G>A)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID5371Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a Slovakian, VHL type 1 family of 13 affected individuals. Seven had retinal ang… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL Splice Site (c.463+1G>C)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID5373Of 65 VHL families from central Europe, 53 were identified with germline mutations. This splice mutation was found in a German, VHL type 1 patient with retinal angiomas, hemangioblastomas of the centr… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL C162W (c.486C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5355Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a German, VHL type 1 patient with retinal angiomas, hemangioblastomas of the cen… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL C77_N78insL (c.230_231insTCT)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5364Of 65 VHL families from central Europe, 53 were identified with germline mutations. This mutation was found in 2 Croatian, VHL type 1 family members (family VHL 26). Both have hemangioblastomas of th… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL E70* (c.208G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5361Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in a Filipino, VHL type 1 patient with hemangioblastomas of the central nervous sys… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL G93S (c.277G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID5362Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in 2 German, VHL type 2 family members with pheochromocytomas (family VHL 62). PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL H115R (c.344A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID5377Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a German, VHL type 1 family of 2. Both patients had hemangioblastomas of the cen… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL H115Y (c.343C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5363Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a German, VHL type 1 patient with retinal angiomas (family VHL 59). PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL L129fs (c.384delT)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5365Of 65 VHL families from central Europe, 53 were identified with germline mutations. This mutation was found in 2 German, VHL type 1 family members with hemangioblastomas of the central nervous system,… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL L178Q (c.533T>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5366Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in 2 German, VHL type 2 family members with retinal angiomas, hemangioblastomas of … (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL L188V (c.562C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | rejected | EID5367Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in 2 unrelated, VHL type 2 families of 9 individuals altogether (family VHL 37, VHL… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL L89P (c.266T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5368Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a German, VHL type 1 family of 11. Three patients had retinal angiomas, 7 hand h… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL N78S (c.233A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID5376Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a German, VHL type 1 family of 6. Each patient had hemangioblastomas of the cent… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL Null (Large deletion)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID10162Of 65 VHL families from central Europe, 53 were identified with germline mutations using SSCP analysis of PCR products by peripheral blood. Germline rearrangements were identified in 7 families. A 2kb… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL P81S (c.241C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID5369Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a German, VHL type 1 patient with hemangioblastomas of the central nervous syste… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL Q132* (c.394C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5358Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in a German, VHL type 1 patient with retinal angiomas, hemangioblastomas of the cen… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL Q164* (c.490C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5359Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in an Iranian, VHL type 1 patient with retinal angiomas, hemangioblastomas of the c… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL Q195* (c.583C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5360Of 65 VHL families from central Europe, 53 were identified with germline mutations. The mutation of p.Q195* (c.583C>T) was referred to in the paper by c.796C>T due to a difference in transcript sequen… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL R113* (c.337C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5352Of 65 VHL families from central Europe, 53 were identified with germline mutations using SSCP analysis of PCR products by peripheral blood. The R113* (c.337C>T) mutation was detected in the patient, r… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL R161G (c.481C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5353Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a German, VHL type 2B family. Only one patient was identified with retinal angio… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL R167Q (c.500G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5354Of 65 VHL families from central Europe, 53 were identified with germline mutations using SSCP analysis of PCR products by peripheral blood. The R167Q (c.500G>A) mutation was detected in the patient, r… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL Splice Site (c.463+2T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5356Of 65 VHL families from central Europe, 53 were identified with germline mutations. This splice mutation was found in a Croatian, VHL type 1 family of 3. Each individual had retinal angiomas, one had … (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL Splice Site (c.464-1G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5357Of 65 VHL families from central Europe, 53 were identified with germline mutations. This splice mutation was found in a German, VHL type 1 patient with hemangioblastomas of the central nervous system … (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL Splice Site (c.464-2A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID5851Of 65 VHL families from central Europe, 53 were identified with germline mutations. This splice mutation was found in a German, VHL type 1 family. Only one affected patient was identified with retinal… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL Splice Site (c.464-2A>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5351Of 65 VHL families from central Europe, 53 were identified with germline mutations. This splice mutation was found in a German, VHL type 1 family. Only one affected patient was identified with hemangi… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL V74G (c.221T>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID5374Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in 2 unrelated, German families. The VHL type 1 family of 4 affected individuals ha… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |
| VHL Y98H (c.292T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID5372Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found 3 unrelated, German families, 2 of which had been previously described (Neumann et … (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC | civic |