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 |
|---|---|---|---|
| RS1553619431 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS1553619461 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1553619948 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS1553619952 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1553619957 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553619976 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS1553620305 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1553620313 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1553620362 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559425925 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559425951 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559426095 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559426115 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1559426145 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS1559426199 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1559426203 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559428051 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559428107 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559428128 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559428134 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1559428164 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559428232 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559429613 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS1559429711 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1559429717 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1575922296 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1575922562 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1575927648 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1575927767 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1575932011 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Chuvash polycythemia |
| RS1575932228 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575932266 | Health Risk | Pathogenic | Papillary renal cell carcinoma type 1, Cerebellar hemangioblastoma, Von Hippel-Lindau syndrome |
| RS1696067154 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1696134947 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1696261074 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS1696262643 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1696266605 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS1696354965 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome |
| RS1696357569 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS193922609 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS2125125069 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2125125103 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS2125125105 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS2125125269 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS2125125325 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2125128187 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2125128261 | Health Risk | Pathogenic | Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS2125128271 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, VHL-related disorder, Von Hippel-Lindau syndrome |
| RS2125128363 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS2125130543 | Health Risk | Pathogenic | Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome |