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 |
|---|---|---|---|
| RS2125130735 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS2470157878 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS2470157939 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS2470157947 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470157974 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS2470157993 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2470158020 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2470158062 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2470158066 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470158072 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2470158104 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS2470158247 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470158265 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470158319 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS2470158326 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470158546 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2470158667 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2470158744 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2470158749 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2470165070 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS2470165203 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2470165240 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470165396 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470170621 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470170739 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2470170764 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2470170948 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS2470170952 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470171129 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS2470171303 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS2470171346 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS267607170 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS28940297 | Health Risk | Pathogenic | RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS397516440 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Pheochromocytoma, Chuvash polycythemia |
| RS397516442 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS397516445 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS5030651 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS5030808 | Health Risk | Pathogenic | Pheochromocytoma, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS5030809 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS5030810 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS5030811 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS5030812 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS5030813 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS5030814 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS5030816 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS5030818 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS5030820 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Pheochromocytoma, Hereditary cancer-predisposing syndrome |
| RS5030821 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS5030822 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS5030825 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |