VHL Chromosome 3

Von Hippel-Lindau tumor suppressor
437 variants 437 Health Risk

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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
RS372483939 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, VHL-related disorder
RS375401722 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS398123482 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS5030648 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS5030803 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Pheochromocytoma
RS5030819 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS5030823 Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Von Hippel-Lindau syndrome, Chuvash polycythemia
RS532018719 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS549807529 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS552290225 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS561874453 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS578091032 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS587778744 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS587780730 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS587780731 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS587780732 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS587780992 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS61758376 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS727503743 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS730882030 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome
RS730882033 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome
RS745439844 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome
RS745901803 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS747861291 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS749091984 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia
RS749774529 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS752980085 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS757781272 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS760690217 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS764358108 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS766576246 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS768390987 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Nonpapillary renal cell carcinoma
RS768650092 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS769658318 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia
RS772944298 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS773556807 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS774380450 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS774557051 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS776399733 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS776768994 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS777130107 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Pheochromocytoma
RS778005138 Health Risk Conflicting classifications of pathogenicity VHL-related disorder, Von Hippel-Lindau syndrome, VHL-related disorder
RS778205243 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS786202857 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome
RS794726890 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome
RS863224371 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS863224688 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS863224839 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS864622267 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome
RS864622334 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
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