VHL germline pathogenic variant
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-VHL-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | VHL germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-KIDNEY-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "VHL", "gene_hugo_id": "HGNC:12687", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
VHL germline — drives von Hippel-Lindau syndrome. Spectrum: clear-cell RCC (lifetime ~70%), CNS hemangioblastomas (cerebellar/spinal), retinal hemangioblastomas, pheochromocytoma, pancreatic NETs / cysts, endolymphatic-sac tumors, epididymal cystadenomas. Lifelong surveillance (annual abdominal MRI, ophthalmologic exam, plasma metanephrines). STUB pending two-Co-Lead signoff.
Used By
Biomarker
BIO-VHL-CLASSIFICATION-PHENOTYPE- VHL phenotype classification (Type 1 / 2A / 2B / 2C)