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
RS1553619956 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1553620312 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1553620318 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1559426089 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS1559428033 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS1559428091 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1559428103 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1559428119 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1575921446 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Nonpapillary renal cell carcinoma
RS1575922124 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1575922597 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1575922613 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1696114029 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1696118253 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Pheochromocytoma
RS1696124265 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1696124466 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1696125033 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS1696126408 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1696140667 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1696165411 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1696260542 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1696261924 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS1696262591 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Pheochromocytoma
RS1696265107 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1696368069 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1805159 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS193922608 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS193922613 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS199583685 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome
RS199926195 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS199959170 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS200019083 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS200885420 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Pheochromocytoma
RS2125124629 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125124854 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS2125125165 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS2125125299 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2125125896 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Chuvash polycythemia
RS2125130551 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS2125130877 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS2470171278 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome
RS281860296 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome
RS28940298 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS28940300 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS34271731 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS35793832 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome
RS367594943 Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome
RS369018004 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS370050374 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS372340900 Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
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