Publication
Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience.
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 I151T (c.452T>C)civic_curation1.00
Curated evidence
Evidence citing this paper (7)
- 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
- 28469506
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL I151T (c.452T>C)2 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID6696A retrospective medical chart review was performed on patients referred to the genetics service. Two unrelated probands were genetically confirmed with a non-familial mutation at c.452T>C of the VHL g… (full text at CIViC) PMID 28469506 · Sriphrapradang et al., 2017 · Open in CIViC | civic |
| 〃 | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID7607A retrospective medical chart review was performed on patients in Thailand. Two unrelated patients were confirmed with the c.452T>C mutation. The first was a 30 year old male patient with a negative f… (full text at CIViC) PMID 28469506 · Sriphrapradang et al., 2017 · Open in CIViC | civic |
| VHL L178R (c.533T>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6699A retrospective medical chart review was performed on patients referred to the genetics service. A 51 year old male presented with retinal, cerebellar, and spinal hemangioblastoma and a pancreatic cys… (full text at CIViC) PMID 28469506 · Sriphrapradang 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 | EID6697A retrospective medical chart review was performed on patients referred to the genetics service. Five unrelated probands were genetically confirmed with a familial mutation at c.481C>T of the VHL gene… (full text at CIViC) PMID 28469506 · Sriphrapradang 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 | EID6698A retrospective medical chart review was performed on patients referred to the genetics service. Two unrelated probands were genetically confirmed with a non-familial mutation at c.500G>A of the VHL g… (full text at CIViC) PMID 28469506 · Sriphrapradang et al., 2017 · Open in CIViC | civic |
| VHL W88*1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | submitted | EID6695A retrospective medical chart review was performed on patients referred to the genetics service. A 43 year old male presented with renal cell carcinoma, pancreatic cyst, epididymal cyst, and central n… (full text at CIViC) PMID 28469506 · Sriphrapradang et al., 2017 · Open in CIViC | civic |
| VHL W88* (c.263G>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | submitted | EID7606A retrospective medical chart review was performed on patients in Thailand. This 43 year old male patient had a positive family history for VHL. He suffered from central nervous system hemangioblastom… (full text at CIViC) PMID 28469506 · Sriphrapradang et al., 2017 · Open in CIViC | civic |