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Gene entry

VHL

von Hippel-Lindau tumor suppressor

Chromosome
3
Cytoband
3p25.3
Variants (rsID)
102

VHL is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p25.3). Its official name is “von Hippel-Lindau tumor suppressor”. The reference table lists 102 variants (rsID) for this gene.

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Clinically classified variants

98 reference-table entries with clinical significance.

  • rs1642742Benignsingle nucleotide variantVon Hippel-Lindau syndrome
  • rs104893829Conflicting interpretationssingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Neoplasm|Chuvash polycythemia|Von Hippel-Lindau syndrome|Nonpapillary renal cell carcinoma|Hepatoblastoma
  • rs1064794272Conflicting interpretationssingle nucleotide variant
  • rs193922611Conflicting interpretationssingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome
  • rs200885420Conflicting interpretationssingle nucleotide variantPolycythemia|Von Hippel-Lindau syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome
  • rs28940298Conflicting interpretationssingle nucleotide variantChuvash polycythemia|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome|Acute leukemia of ambiguous lineage|Nonpapillary renal cell carcinoma
  • rs367545984Conflicting interpretationssingle nucleotide variantVon Hippel-Lindau syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome
  • rs373068386Conflicting interpretationssingle nucleotide variantVon Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia|Hereditary cancer-predisposing syndrome|Hepatoblastoma
  • rs377715747Conflicting interpretationssingle nucleotide variantVon Hippel-Lindau syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome
  • rs398123482Conflicting interpretationssingle nucleotide variantVon Hippel-Lindau syndrome
  • rs5030821Conflicting interpretationssingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs5030824Conflicting interpretationssingle nucleotide variantVon Hippel-Lindau syndrome|Pheochromocytoma|Chuvash polycythemia|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs63650860Conflicting interpretationssingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome
  • rs775624944Conflicting interpretationssingle nucleotide variantVon Hippel-Lindau syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome
  • rs769102979Likely benignsingle nucleotide variantChuvash polycythemia|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome
  • rs864622109Likely benignsingle nucleotide variantVon Hippel-Lindau syndrome|Chuvash polycythemia|Hereditary cancer-predisposing syndrome
  • rs864622646Likely benignsingle nucleotide variantVon Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs193922610Likely pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome
  • rs28940297Likely pathogenicsingle nucleotide variantRenal cell carcinoma with paraneoplastic erythrocytosis|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs28940301Likely pathogenicsingle nucleotide variantChuvash polycythemia|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs727503744Likely pathogenicDeletionVon Hippel-Lindau syndrome
  • rs864321640Likely pathogenicDuplicationPheochromocytoma
  • rs864321641Likely pathogenicsingle nucleotide variantPheochromocytoma
  • rs864321642Likely pathogenicsingle nucleotide variantPheochromocytoma
  • rs869025616Likely pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome
  • rs869025621Likely pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome
  • rs869025642Likely pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs869025661Likely pathogenicDuplicationVon Hippel-Lindau syndrome
  • rs869025663Likely pathogenicDeletionVon Hippel-Lindau syndrome
  • rs869025666Likely pathogenicDuplicationVon Hippel-Lindau syndrome
  • rs869025667Likely pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome
  • rs869025668Likely pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome
  • rs104893824Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs104893825Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs104893826Pathogenicsingle nucleotide variantPheochromocytoma|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs104893830Pathogenicsingle nucleotide variantChuvash polycythemia|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs1064793878Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome
  • rs119103277Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome
  • rs119103278Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome
  • rs121913346Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs1347416980Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome
  • rs1352275281Pathogenicsingle nucleotide variantChuvash polycythemia|Von Hippel-Lindau syndrome
  • rs193922608Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome|See cases
  • rs193922609Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs193922613Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome
  • rs267607170Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs397516440Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Pheochromocytoma|Von Hippel-Lindau syndrome|Nonpapillary renal cell carcinoma|Chuvash polycythemia
  • rs397516441Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs397516442PathogenicDeletionVon Hippel-Lindau syndrome
  • rs397516444Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome
  • rs5030802Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs5030808Pathogenicsingle nucleotide variantPheochromocytoma|Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs5030809Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs5030813Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome
  • rs5030816Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome|Chuvash polycythemia|Nonpapillary renal cell carcinoma|Pheochromocytoma
  • rs5030819Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs5030820Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Pheochromocytoma|Hereditary cancer-predisposing syndrome|Renal cell carcinoma, papillary, 1|Von Hippel-Lindau syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome|Pheochromocytoma|Nonpapillary renal cell carcinoma|Chuvash polycythemia|Nonpapillary renal cell carcinoma
  • rs5030823Pathogenicsingle nucleotide variantRenal cell carcinoma, papillary, 1|Von Hippel-Lindau syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome
  • rs5030827Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs5030832Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs587780077Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs730882020PathogenicDeletionVon Hippel-Lindau syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome
  • rs730882030PathogenicMicrosatelliteHereditary cancer-predisposing syndrome
  • rs730882039PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs765978945Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs786202787Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome
  • rs794726890Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome
  • rs794727253PathogenicDeletionVon Hippel-Lindau syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome
  • rs869025617Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome
  • rs869025618Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs869025619Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs869025620PathogenicDeletionVon Hippel-Lindau syndrome
  • rs869025622Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs869025624PathogenicDuplicationVon Hippel-Lindau syndrome
  • rs869025631Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome
  • rs869025632PathogenicDeletionVon Hippel-Lindau syndrome
  • rs869025634PathogenicDeletionVon Hippel-Lindau syndrome
  • rs869025636Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome
  • rs869025637Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs869025638PathogenicDeletionVon Hippel-Lindau syndrome
  • rs869025640PathogenicDeletionVon Hippel-Lindau syndrome
  • rs869025641PathogenicInsertionVon Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs869025643Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome
  • rs869025644PathogenicMicrosatelliteVon Hippel-Lindau syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome
  • rs869025646PathogenicDeletionVon Hippel-Lindau syndrome
  • rs869025648Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs869025650Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs869025651PathogenicDeletionVon Hippel-Lindau syndrome
  • rs869025652PathogenicDeletionVon Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs869025655Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome
  • rs869025656PathogenicDeletionVon Hippel-Lindau syndrome
  • rs869025657Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome
  • rs869025660Pathogenicsingle nucleotide variantVon Hippel-Lindau syndrome
  • rs104893827Uncertain significancesingle nucleotide variantPheochromocytoma|Von Hippel-Lindau syndrome|Chuvash polycythemia
  • rs143985153Uncertain significancesingle nucleotide variantVon Hippel-Lindau syndrome|Chuvash polycythemia
  • rs28940300Uncertain significancesingle nucleotide variantChuvash polycythemia|Von Hippel-Lindau syndrome|Chuvash polycythemia|Hereditary cancer-predisposing syndrome
  • rs5030828Uncertain significancesingle nucleotide variantNeoplasm|Chuvash polycythemia|Von Hippel-Lindau syndrome
  • rs869025630Uncertain significancesingle nucleotide variantVon Hippel-Lindau syndrome

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.