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 |
|---|---|---|---|
| RS1696355550 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS2125124755 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2125124781 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2125124863 | Health Risk | Likely pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2125125032 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS2125125087 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2125128340 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS2125130449 | Health Risk | Likely pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2125130793 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS2470156523 | Health Risk | Likely pathogenic | Chuvash polycythemia, Chuvash polycythemia |
| RS2470158146 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS2470158799 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470165274 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470171381 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS28940301 | Health Risk | Likely pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS367545984 | Health Risk | Likely pathogenic | — |
| RS5030802 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS5030804 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS5030832 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS727503744 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS727504215 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS754016774 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS864321640 | Health Risk | Likely pathogenic | Pheochromocytoma, Hereditary cancer-predisposing syndrome, Pheochromocytoma |
| RS864321641 | Health Risk | Likely pathogenic | Pheochromocytoma, Pheochromocytoma |
| RS869025629 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025632 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS869025642 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS869025643 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS869025645 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025661 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025663 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Pheochromocytoma, Chuvash polycythemia |
| RS869025666 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025667 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS869025668 | Health Risk | Likely pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS104893824 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS104893825 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS1060503552 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS1064794037 | Health Risk | Pathogenic | — |
| RS1131690955 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690956 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690958 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690959 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1131690964 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS119103277 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS119103278 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1214305423 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS121913346 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS1399097617 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS1407805768 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1553619415 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |