Publication
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
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 (52)
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 52
- geneVHLcivic_curation1.00
- variantVHL A149T (c.445G>A)civic_curation1.00
- variantVHL C162F (c.485G>T)civic_curation1.00
- variantVHL C162R (c.484T>C)civic_curation1.00
- variantVHL C162W (c.486C>G)civic_curation1.00
- variantVHL E186* (c.556G>T)civic_curation1.00
- variantVHL E186K (c.556G>A)civic_curation1.00
- variantVHL E55fs (c.163delG)civic_curation1.00
- variantVHL E70* (c.208G>T)civic_curation1.00
- variantVHL F119L (c.357C>G)civic_curation1.00
- variantVHL F76del (c.227_229del)civic_curation1.00
- variantVHL G114R (c.340G>C)civic_curation1.00
- variantVHL G93D (c.278G>A)civic_curation1.00
- variantVHL H115Q (c.345C>A)civic_curation1.00
- variantVHL L129Q (c.386insAGA)civic_curation1.00
- variantVHL L135* (c.404T>A)civic_curation1.00
- variantVHL L158P (c.473T>C)civic_curation1.00
- variantVHL L178P (c.533T>C)civic_curation1.00
- variantVHL L184P (c.551T>C)civic_curation1.00
- variantVHL L188Q (c.563T>A)civic_curation1.00
- variantVHL N150fs (c.448delA)civic_curation1.00
- variantVHL N150fs (c.449del)civic_curation1.00
- variantVHL N78H (c.232A>C)civic_curation1.00
- variantVHL N78S (c.233A>G)civic_curation1.00
- variantVHL N78T (c.233A>C)civic_curation1.00
- variantVHL Null (Large deletion)civic_curation1.00
- variantVHL P154fs (c.462delA)civic_curation1.00
- variantVHL P86A (c.256C>G)civic_curation1.00
- variantVHL P86fs (c.254_255insC)civic_curation1.00
- variantVHL P86L (c.257C>T)civic_curation1.00
- variantVHL Q164R (c.491A>G)civic_curation1.00
- variantVHL Q73* (c.217C>T)civic_curation1.00
- variantVHL R161Q (c.482G>A)civic_curation1.00
- variantVHL R167fs (c.502insTTGTCCGT)civic_curation1.00
- variantVHL R167Q (c.500G>A)civic_curation1.00
- variantVHL R167W (c.499C>T)civic_curation1.00
- variantVHL R176fs (c.526del)civic_curation1.00
- variantVHL R82_V84del (c.244_252del)civic_curation1.00
- variantVHL S111FS (c.331delA)civic_curation1.00
- variantVHL S111N (c.332G>A)civic_curation1.00
- variantVHL S111R (c.333C>G)civic_curation1.00
- variantVHL S65W (c.194C>G)civic_curation1.00
- variantVHL S80I (c.239G>T)civic_curation1.00
- variantVHL T157I (c.470C>T)civic_curation1.00
- variantVHL V166D (c.497T>A)civic_curation1.00
- variantVHL V62Cfs*5 (c.180del)civic_curation1.00
- variantVHL V87fs (c.255_256insC)civic_curation1.00
- variantVHL W117C (c.351G>T)civic_curation1.00
- variantVHL W88R (c.262T>A)civic_curation1.00
- variantVHL Y112* (c.336C>A)civic_curation1.00
- variantVHL Y112H (c.334T>C)civic_curation1.00
- variantVHL Y98H (c.292T>C)civic_curation1.00
Curated evidence
Evidence citing this paper (52)
50 items per page.
- 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
- 7728151
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL A149T (c.445G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID4909In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL C162F (c.485G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID4940In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL C162R (c.484T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID4939In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. Misse… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL C162W (c.486C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID4941In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL E186* (c.556G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4944In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL E186K (c.556G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID4945In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL E55fs (c.163delG)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID10178In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL E70* (c.208G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID6059In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. The E… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL F119L (c.357C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID4908In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL F76del (c.227_229del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID4919This deletion mutation was found in two VHL type 1 families of 15 individuals altogether (Family IDs 2693 and 2956 in publication). Five of 7 individuals were identified with retinal hemangioblastomas… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL F76I (c.226T>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | rejected | EID4915In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. Misse… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL G114R (c.340G>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID9067In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL G93D (c.278G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID5080In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL H115Q (c.345C>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID4907In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL L129Q (c.386insAGA)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4934In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL L135* (c.404T>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4935In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL L158P (c.473T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID4938In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. The p… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL L178P (c.533T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4914In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL L184P (c.551T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID4943In a study of 114 unrelated VHL affected families, germline mutations in the VHL gene were identified in 85 of the families. VHL mutations were detected in affected family members, but not in unaffect… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL L188Q (c.563T>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID6061In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL N150fs (c.448delA)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID10176In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL N150fs (c.449del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4936In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL N78H (c.232A>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4920In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. Using… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL N78S (c.233A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4921In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. The p… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL N78T (c.233A>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID4922In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL Null (Large deletion)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID10188In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. 18 fa… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL P154fs (c.462delA)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4937In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL P86A (c.256C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID4925In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL P86fs (c.254_255insC)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID4924In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL P86L (c.257C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID4926In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. The p… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL Q164R (c.491A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID10177In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL Q73* (c.217C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID4918In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL R161Q (c.482G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID4911In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL R167fs (c.502insTTGTCCGT)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4946In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. Mutat… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL R167Q (c.500G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID4913In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. The p… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL R167W (c.499C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4912In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL R176fs (c.526del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4947In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL R82_V84del (c.244_252del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID6060In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL S111FS (c.331delA)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID4928In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL S111N (c.332G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID4929In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL S111R (c.333C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID4930In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL S65W (c.194C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4917In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. The S… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL S80I (c.239G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4923In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL T157I (c.470C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID4910In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL V166D (c.497T>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID4942In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL V62Cfs*5 (c.180del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID4916In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL V87fs (c.255_256insC)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID10171In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL W117C (c.351G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID4933In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL W88R (c.262T>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID4927In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |
| VHL Y112* (c.336C>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID4932In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC | civic |