VHL Chromosome 3
Von Hippel-Lindau tumor suppressor
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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 |
|---|---|---|---|
| RS5030826 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS5030829 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS5030830 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS5030835 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS587780077 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS730882020 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS730882032 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Clear cell carcinoma of kidney |
| RS730882035 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS730882037 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS730882039 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS749704215 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS751232153 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS765978945 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS786202787 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS794729660 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS864321643 | Health Risk | Pathogenic | Pheochromocytoma, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS864622109 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS864622545 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025615 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS869025616 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Pheochromocytoma, Von Hippel-Lindau syndrome |
| RS869025620 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025622 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS869025623 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025624 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025625 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025626 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025627 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025628 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025631 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS869025634 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025637 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Chuvash polycythemia |
| RS869025638 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025640 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025641 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS869025644 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Chuvash polycythemia |
| RS869025646 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025647 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025648 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025649 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS869025650 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS869025651 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025653 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS869025655 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS869025656 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025657 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Clear cell carcinoma of kidney, Hereditary cancer-predisposing syndrome |
| RS869025660 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Pheochromocytoma |
| RS869025664 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS886041345 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1064793878 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1064794271 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |