VHL Chromosome 3
Von Hippel-Lindau tumor suppressor
Upload your DNA to see your personal genotypes for variants in VHL.
What This Gene Does
This gene encodes a component of a ubiquitination complex. The encoded protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. In addition to oxygen-related gene expression, this protein plays a role in many other cellular processes including cilia formation, cytokine signaling, regulation of senescence, and formation of the extracellular matrix. Variants of this gene are associated with von Hippel-Lindau syndrome, pheochromocytoma, erythrocytosis, renal cell carcinoma, and cerebellar hemangioblastoma. [provided by RefSeq, Jun 2022]
Associated Conditions (30)
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Lung sarcomatoid carcinoma
VHL-related disorder
See cases
Congenital Erythrocytosis
Ovarian cancer
Inherited phaeochromocytoma and paraganglioma excluding NF1
Acute leukemia of ambiguous lineage
Papillary renal cell carcinoma type 1
Hereditary cancer
Maffucci syndrome
Clear cell carcinoma of kidney
Cerebellar hemangioblastoma
Skin adenoma
RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
Familial prostate cancer
+10 more conditions
Key Variants
RS1003364563
Conflicting classifications of pathogenicity
Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
Health Risk
RS1004620245
Conflicting classifications of pathogenicity
Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
Health Risk
RS1014417508
Conflicting classifications of pathogenicity
Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
Health Risk
RS1017141110
Conflicting classifications of pathogenicity
Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
Health Risk
RS1034934219
Conflicting classifications of pathogenicity
Pheochromocytoma, Von Hippel-Lindau syndrome, Chuvash polycythemia
Health Risk
RS104893826
Conflicting classifications of pathogenicity
Pheochromocytoma, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
Health Risk
RS104893830
Conflicting classifications of pathogenicity
Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1051892430
Conflicting classifications of pathogenicity
Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1054796088
Conflicting classifications of pathogenicity
Von Hippel-Lindau syndrome, Chuvash polycythemia, Pheochromocytoma
Health Risk
RS1056226386
Conflicting classifications of pathogenicity
Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057519261
Conflicting classifications of pathogenicity
Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
Health Risk
RS1057522448
Conflicting classifications of pathogenicity
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
Health Risk
All Variants (437)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS869025617 | Health Risk | Conflicting classifications of pathogenicity | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS869025619 | Health Risk | Conflicting classifications of pathogenicity | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS869025630 | Health Risk | Conflicting classifications of pathogenicity | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS869025659 | Health Risk | Conflicting classifications of pathogenicity | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS876659313 | Health Risk | Conflicting classifications of pathogenicity | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS878854127 | Health Risk | Conflicting classifications of pathogenicity | Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS878854130 | Health Risk | Conflicting classifications of pathogenicity | Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS879253989 | Health Risk | Conflicting classifications of pathogenicity | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS879254225 | Health Risk | Conflicting classifications of pathogenicity | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS886041253 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, VHL-related disorder, Von Hippel-Lindau syndrome |
| RS886057703 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS902694906 | Health Risk | Conflicting classifications of pathogenicity | Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS912159589 | Health Risk | Conflicting classifications of pathogenicity | Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS913104799 | Health Risk | Conflicting classifications of pathogenicity | Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS919338576 | Health Risk | Conflicting classifications of pathogenicity | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS929301467 | Health Risk | Conflicting classifications of pathogenicity | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS929332564 | Health Risk | Conflicting classifications of pathogenicity | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS946898891 | Health Risk | Conflicting classifications of pathogenicity | Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS973379327 | Health Risk | Conflicting classifications of pathogenicity | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS982745672 | Health Risk | Conflicting classifications of pathogenicity | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS104893827 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS104893831 | Health Risk | Likely pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1064794951 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1131690960 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690961 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1131691526 | Health Risk | Likely pathogenic | — |
| RS1205346910 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1264207864 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS143985153 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS1487408934 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1553619239 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS1553619424 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS1553619456 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1553619993 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1553620326 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1559425911 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1559426047 | Health Risk | Likely pathogenic | — |
| RS1559428039 | Health Risk | Likely pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1559428056 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1559428077 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS1559428180 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559429778 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559429824 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1559429829 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559430011 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1575921544 | Health Risk | Likely pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1575922271 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575923363 | Health Risk | Likely pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1575932781 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS1696266503 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |