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 |
|---|---|---|---|
| RS1064794272 | Health Risk | Pathogenic/Likely pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS1064796408 | Health Risk | Pathogenic/Likely pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1347416980 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS1352275281 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS1553619402 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1553619440 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1553619963 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1553620331 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559426072 | Health Risk | Pathogenic/Likely pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS1559428217 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559428267 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559429736 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS1696264108 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1696355438 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS193922610 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS193922611 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS2125128327 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS397516441 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS397516444 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS398123481 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS398123483 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS5030622 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS5030805 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS5030807 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS5030817 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS5030827 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS5030833 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS730882031 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS730882034 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS794727253 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS864321642 | Health Risk | Pathogenic/Likely pathogenic | Pheochromocytoma, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS864622646 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS869025618 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS869025621 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS869025633 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS869025636 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS869025652 | Health Risk | Pathogenic/Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |