VHL
von Hippel-Lindau tumor suppressor
Summary
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]
Known Variants1,015 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10433558 | 3:10,183,002 | G/C | — | benign |
| rs779804 | 3:10,183,274 | C/T | — | benign |
| rs886057698 | 3:10,183,325 | C/T | — | uncertain significance |
| rs779805 | 3:10,183,337 | G/A | regulatory region variant | benign |
| rs966586600 | 3:10,183,344 | G/A | — | uncertain significance |
| rs1466966053 | 3:10,183,353 | G/A | — | uncertain significance |
| rs886057699 | 3:10,183,366 | C/T | — | uncertain significance |
| rs886057700 | 3:10,183,407 | C/A | — | uncertain significance |
| rs1212094215 | 3:10,183,410 | T/C | — | uncertain significance |
| rs1696106670 | 3:10,183,414 | C/T | — | uncertain significance |
| rs1696106905 | 3:10,183,422 | C/G | — | uncertain significance |
| rs34271731 | 3:10,183,435 | T/G | — | conflicting classifications of pathogenicity |
| rs3087462 | 3:10,183,455 | C/T | — | likely benign |
| rs1034934219 | 3:10,183,459 | C/T | — | conflicting classifications of pathogenicity |
| rs2470156561 | 3:10,183,462 | G/A | — | likely benign |
| rs772944298 | 3:10,183,468 | C/T | — | conflicting classifications of pathogenicity |
| rs916012789 | 3:10,183,481 | G/A | — | uncertain significance |
| rs1488933130 | 3:10,183,483 | C/T | — | uncertain significance |
| rs973379327 | 3:10,183,484 | C/G | — | conflicting classifications of pathogenicity |
| rs745439844 | 3:10,183,485 | C/T | — | conflicting classifications of pathogenicity |
| rs372483939 | 3:10,183,487 | C/A | — | conflicting classifications of pathogenicity |
| rs929301467 | 3:10,183,488 | G/T | — | conflicting classifications of pathogenicity |
| rs1052005754 | 3:10,183,492 | C/T | — | likely benign |
| rs933174704 | 3:10,183,494 | C/T | — | likely benign |
| rs1349047110 | 3:10,183,496 | C/G | — | likely benign |
| rs587780992 | 3:10,183,497 | G/A | — | conflicting classifications of pathogenicity |
| rs1291699289 | 3:10,183,501 | T/C | — | likely benign |
| rs886057701 | 3:10,183,502 | C/T | — | uncertain significance |
| rs558788270 | 3:10,183,503 | C/A | — | likely benign |
| rs946136114 | 3:10,183,504 | G/C | — | likely benign |
| rs775446934 | 3:10,183,506 | C/T | — | uncertain significance |
| rs1340337531 | 3:10,183,507 | C/A | — | likely benign |
| rs760414295 | 3:10,183,509 | G/C | — | likely benign |
| rs893572737 | 3:10,183,516 | C/T | — | likely benign |
| rs776768994 | 3:10,183,517 | T/C | — | conflicting classifications of pathogenicity |
| rs1057522448 | 3:10,183,519 | G/C | — | conflicting classifications of pathogenicity |
| rs1192379474 | 3:10,183,522 | C/T | — | conflicting classifications of pathogenicity |
| rs35793832 | 3:10,183,527 | A/C | — | conflicting classifications of pathogenicity |
| rs1388409707 | 3:10,183,528 | G/A | — | uncertain significance |
| rs902212096 | 3:10,183,529 | G/A | — | uncertain significance |
| rs937566924 | 3:10,183,530 | G/A | — | uncertain significance |
| rs1165233721 | 3:10,183,531 | A/G | — | conflicting classifications of pathogenicity |
| rs1060503557 | 3:10,183,532 | A/T | — | conflicting classifications of pathogenicity |
| rs2125124372 | 3:10,183,533 | T/A | — | uncertain significance |
| rs578091032 | 3:10,183,534 | G/A | — | conflicting classifications of pathogenicity |
| rs1034974221 | 3:10,183,535 | C/T | — | uncertain significance |
| rs111246617 | 3:10,183,536 | C/T | — | conflicting classifications of pathogenicity |
| rs1014417508 | 3:10,183,537 | C/T | — | conflicting classifications of pathogenicity |
| rs878854130 | 3:10,183,538 | C/T | — | conflicting classifications of pathogenicity |
| rs1178481595 | 3:10,183,539 | G/C | — | uncertain significance |
| rs1696113334 | 3:10,183,540 | G/T | — | likely benign |
| rs886057702 | 3:10,183,541 | A/T | — | uncertain significance |
| rs886057703 | 3:10,183,542 | G/T | — | uncertain significance |
| rs1553619274 | 3:10,183,543 | G/A | — | conflicting classifications of pathogenicity |
| rs1559425498 | 3:10,183,544 | G/C | — | uncertain significance |
| rs755333116 | 3:10,183,545 | C/T | — | uncertain significance |
| rs1355874307 | 3:10,183,546 | G/A | — | likely benign |
| rs545406510 | 3:10,183,547 | G/T | — | uncertain significance |
| rs1696114029 | 3:10,183,548 | A/C | — | conflicting classifications of pathogenicity |
| rs1004620245 | 3:10,183,549 | G/T | — | conflicting classifications of pathogenicity |
| rs1575920892 | 3:10,183,551 | A/C | — | uncertain significance |
| rs1060503561 | 3:10,183,552 | C/A | — | conflicting classifications of pathogenicity |
| rs1352171735 | 3:10,183,553 | T/C | — | conflicting classifications of pathogenicity |
| rs1060503551 | 3:10,183,554 | G/A | — | uncertain significance |
| rs587780730 | 3:10,183,556 | G/A | — | conflicting classifications of pathogenicity |
| rs1060503560 | 3:10,183,557 | A/C | — | conflicting classifications of pathogenicity |
| rs1017141110 | 3:10,183,558 | C/A | — | conflicting classifications of pathogenicity |
| rs1057519261 | 3:10,183,559 | G/A | — | conflicting classifications of pathogenicity |
| rs786204065 | 3:10,183,560 | A/T | — | uncertain significance |
| rs963501454 | 3:10,183,561 | G/T | — | uncertain significance |
| rs1236604706 | 3:10,183,562 | G/C | — | conflicting classifications of pathogenicity |
| rs778674343 | 3:10,183,564 | C/T | — | likely benign |
| rs1064794788 | 3:10,183,565 | G/C | — | uncertain significance |
| rs1380706798 | 3:10,183,566 | A/G | — | uncertain significance |
| rs973493604 | 3:10,183,567 | G/C | — | uncertain significance |
| rs919338576 | 3:10,183,568 | G/A | — | conflicting classifications of pathogenicity |
| rs1553619289 | 3:10,183,569 | T/G | — | uncertain significance |
| rs996469746 | 3:10,183,570 | A/G | — | likely benign |
| rs1060503559 | 3:10,183,571 | G/C | — | uncertain significance |
| rs1575921044 | 3:10,183,572 | G/A | — | uncertain significance |
| rs1696116574 | 3:10,183,573 | C/T | — | likely benign |
| rs1060503568 | 3:10,183,574 | G/A | — | conflicting classifications of pathogenicity |
| rs1159027899 | 3:10,183,575 | C/T | — | uncertain significance |
| rs563813895 | 3:10,183,576 | G/A | — | likely benign |
| rs1060503556 | 3:10,183,577 | G/C | — | uncertain significance |
| rs864622379 | 3:10,183,578 | A/C | — | uncertain significance |
| rs1057522140 | 3:10,183,579 | G/C | — | uncertain significance |
| rs1028898216 | 3:10,183,580 | G/T | — | uncertain significance |
| rs2125124538 | 3:10,183,582 | G/T | — | uncertain significance |
| rs1332272921 | 3:10,183,583 | G/T | — | uncertain significance |
| rs1553619302 | 3:10,183,584 | C/T | — | conflicting classifications of pathogenicity |
| rs1305687580 | 3:10,183,585 | A/C | — | likely benign |
| rs1382387188 | 3:10,183,586 | G/C | — | uncertain significance |
| rs2125124549 | 3:10,183,587 | G/T | — | uncertain significance |
| rs1453582828 | 3:10,183,588 | C/A | — | likely benign |
| rs2125124555 | 3:10,183,589 | G/C | — | uncertain significance |
| rs929332564 | 3:10,183,590 | T/C | — | conflicting classifications of pathogenicity |
| rs1553619311 | 3:10,183,591 | C/G | — | likely benign |
| rs2125124562 | 3:10,183,592 | G/A | — | uncertain significance |
| rs1060503548 | 3:10,183,593 | A/C | — | uncertain significance |
Showing 100 of 1,015 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.