Publication
Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families.
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 Splice Site (c.340+1G>A)civic_curation1.00
Curated evidence
Evidence citing this paper (12)
- 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
- 25952756
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID5849A study describing phenotypic and genotypic characteristics of VHL in an Indian population of 31 subjects, from 15 families diagnosed with VHL. Multi-cystic pancreas and CNS hemangioblastomas were the… (full text at CIViC) PMID 25952756 · Vikkath et al., 2015 · Open in CIViC | civic |
| VHL E94K (c.280G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5843A study describing phenotypic and genotypic characteristics of VHL in an Indian population of 31 subjects, from 15 families diagnosed with VHL. Multi-cystic pancreas lesions and CNS hemangioblastomas … (full text at CIViC) PMID 25952756 · Vikkath et al., 2015 · Open in CIViC | civic |
| VHL Exon 3 Deletion1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5850A study describing phenotypic and genotypic characteristics of VHL in an Indian population of 31 subjects, from 15 families diagnosed with VHL. Multi-cystic pancreas and CNS hemangioblastomas were the… (full text at CIViC) PMID 25952756 · Vikkath et al., 2015 · Open in CIViC | civic |
| VHL G114D (c.340+1G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID10655A study describing phenotypic and genotypic characteristics of VHL in an Indian population of 31 subjects, from 15 families diagnosed with VHL. Genomic DNA was amplified with PCR and sequenced and lar… (full text at CIViC) PMID 25952756 · Vikkath et al., 2015 · Open in CIViC | civic |
| VHL L118P (c.353T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5846A study describing phenotypic and genotypic characteristics of VHL in an Indian population of 31 subjects, from 15 families diagnosed with VHL. Multi-cystic pancreas and CNS hemangioblastomas were the… (full text at CIViC) PMID 25952756 · Vikkath et al., 2015 · Open in CIViC | civic |
| VHL N78S (c.233A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5842A study describing phenotypic and genotypic characteristics of VHL in an Indian population of 31 subjects, from 15 families diagnosed with VHL. Multi-cystic pancreas and CNS hemangioblastomas were the… (full text at CIViC) PMID 25952756 · Vikkath et al., 2015 · Open in CIViC | civic |
| VHL Q96_P102del (c.287_307del)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID8643A study describing phenotypic and genotypic characteristics of VHL in an Indian population of 31 subjects, from 15 families diagnosed with VHL. Genomic DNA was amplified with PCR and sequenced and lar… (full text at CIViC) PMID 25952756 · Vikkath et al., 2015 · Open in CIViC | civic |
| VHL R167W (c.499C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID5848A study describing phenotypic and genotypic characteristics of VHL in an Indian population of 31 subjects, from 15 families diagnosed with VHL. Multi-cystic pancreas and CNS hemangioblastomas were the… (full text at CIViC) PMID 25952756 · Vikkath et al., 2015 · Open in CIViC | civic |
| VHL S72P (c.214T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5841A study describing phenotypic and genotypic characteristics of VHL in an Indian population of 31 subjects, from 15 families diagnosed with VHL. Multicystic pancreas and central nervous system hemangio… (full text at CIViC) PMID 25952756 · Vikkath et al., 2015 · Open in CIViC | civic |
| VHL Splice Site (c.340+1G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID5845A study describing phenotypic and genotypic characteristics of VHL in an Indian population of 31 subjects, from 15 families diagnosed with VHL. Multi-cystic pancreas and CNS hemangioblastomas were the… (full text at CIViC) PMID 25952756 · Vikkath et al., 2015 · Open in CIViC | civic |
| VHL V155G (c.464T>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID5847A study describing phenotypic and genotypic characteristics of VHL in an Indian population of 31 subjects, from 15 families diagnosed with VHL. Multi-cystic pancreas and CNS hemangioblastomas were the… (full text at CIViC) PMID 25952756 · Vikkath et al., 2015 · Open in CIViC | civic |
| VHL Y98C (c.293A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID5844A study describing phenotypic and genotypic characteristics of VHL in an Indian population of 31 subjects, from 15 families diagnosed with VHL. Multi-cystic pancreas lesions and CNS hemangioblastomas … (full text at CIViC) PMID 25952756 · Vikkath et al., 2015 · Open in CIViC | civic |