EYA1
EYA transcriptional coactivator and phosphatase 1
Summary
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
Known Variants435 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs112480709 | 8:72,109,661 | A/C | — | likely benign |
| rs377092983 | 8:72,109,685 | T/C | — | benign |
| rs777991930 | 8:72,109,903 | A/T | — | uncertain significance |
| rs886063084 | 8:72,109,977 | T/G | — | uncertain significance |
| rs9298163 | 8:72,109,994 | C/T | — | benign |
| rs1042576113 | 8:72,110,014 | T/C | — | uncertain significance |
| rs867228117 | 8:72,110,032 | A/C | — | uncertain significance |
| rs779384590 | 8:72,110,046 | G/A | — | uncertain significance |
| rs543035675 | 8:72,110,184 | C/T | — | uncertain significance |
| rs56115941 | 8:72,110,251 | A/G | — | benign |
| rs147323889 | 8:72,110,265 | T/C | — | benign |
| rs1806462036 | 8:72,110,278 | T/C | — | uncertain significance |
| rs867048052 | 8:72,110,291 | G/T | — | uncertain significance |
| rs192113669 | 8:72,110,300 | C/T | — | uncertain significance |
| rs140308724 | 8:72,110,312 | G/A | — | benign |
| rs769460553 | 8:72,110,346 | C/T | — | uncertain significance |
| rs117394899 | 8:72,110,353 | G/T | — | benign |
| rs1806487217 | 8:72,110,449 | A/G | — | uncertain significance |
| rs979538866 | 8:72,110,709 | G/A | — | uncertain significance |
| rs775498240 | 8:72,110,727 | C/T | — | uncertain significance |
| rs74862574 | 8:72,110,775 | A/G | — | benign |
| rs77243350 | 8:72,110,791 | A/G | — | benign |
| rs1806536881 | 8:72,110,820 | T/A | — | uncertain significance |
| rs79700717 | 8:72,110,870 | A/C | — | benign |
| rs553030149 | 8:72,111,019 | T/C | — | benign |
| rs886063086 | 8:72,111,030 | G/A | — | uncertain significance |
| rs1806581730 | 8:72,111,124 | G/A | — | uncertain significance |
| rs767388665 | 8:72,111,133 | C/T | — | uncertain significance |
| rs192602787 | 8:72,111,146 | A/G | — | conflicting classifications of pathogenicity |
| rs151172668 | 8:72,111,222 | G/A | — | benign |
| rs886063087 | 8:72,111,458 | C/T | — | uncertain significance |
| rs545764396 | 8:72,111,471 | G/A | — | benign |
| rs139109847 | 8:72,111,473 | A/C | — | likely benign |
| rs186838732 | 8:72,111,489 | G/T | — | uncertain significance |
| rs938004211 | 8:72,111,505 | C/T | — | uncertain significance |
| rs373876510 | 8:72,111,552 | C/T | — | likely benign |
| rs370353759 | 8:72,111,566 | C/T | — | likely benign |
| rs2537017064 | 8:72,111,583 | A/T | — | uncertain significance |
| rs10103397 | 8:72,111,599 | G/A | — | benign |
| rs397517920 | 8:72,111,606 | A/G | missense variant | pathogenic |
| rs1585717154 | 8:72,111,615 | A/C | — | likely pathogenic |
| rs770876882 | 8:72,111,620 | C/T | — | likely benign |
| rs2537018163 | 8:72,111,635 | C/A | — | uncertain significance |
| rs775343638 | 8:72,111,637 | T/C | — | uncertain significance |
| rs761954788 | 8:72,111,650 | C/T | — | likely benign |
| rs763080811 | 8:72,111,653 | G/T | — | likely benign |
| rs117149407 | 8:72,111,658 | A/G | — | benign |
| rs201537030 | 8:72,111,663 | A/G | — | conflicting classifications of pathogenicity |
| rs10090382 | 8:72,111,678 | T/C | — | benign |
| rs10103644 | 8:72,111,710 | C/T | — | benign |
| rs10103852 | 8:72,111,739 | G/C | — | benign |
| rs12678747 | 8:72,114,776 | A/T | intron variant | — |
| rs79178549 | 8:72,123,047 | G/A | — | benign |
| rs76599768 | 8:72,123,258 | T/C | — | benign |
| rs373281401 | 8:72,123,377 | C/T | — | uncertain significance |
| rs2537205726 | 8:72,123,389 | A/G | — | likely pathogenic |
| rs530147851 | 8:72,123,390 | C/A | — | pathogenic |
| rs606231355 | 8:72,123,391 | — | — | pathogenic |
| rs397517919 | 8:72,123,391 | — | — | pathogenic |
| rs143798228 | 8:72,123,392 | T/C | — | uncertain significance |
| rs1481254965 | 8:72,123,405 | G/A | — | pathogenic |
| rs766423472 | 8:72,123,419 | C/A | — | uncertain significance |
| rs2537207001 | 8:72,123,425 | C/T | — | uncertain significance |
| rs774427621 | 8:72,123,430 | A/G | — | likely benign |
| rs368320173 | 8:72,123,439 | C/T | — | likely benign |
| rs121909197 | 8:72,123,450 | T/C | missense variant | pathogenic |
| rs2537208023 | 8:72,123,462 | G/A | — | pathogenic |
| rs753553594 | 8:72,123,468 | T/C | — | uncertain significance |
| rs2537208381 | 8:72,123,471 | T/C | — | uncertain significance |
| rs1060499603 | 8:72,123,474 | C/A | stop gained | pathogenic |
| rs2537208469 | 8:72,123,478 | A/T | — | pathogenic |
| rs1554594182 | 8:72,123,480 | A/G | — | uncertain significance |
| rs2537209067 | 8:72,123,492 | C/G | — | pathogenic |
| rs1808471410 | 8:72,123,493 | T/C | — | pathogenic |
| rs372286227 | 8:72,123,506 | T/C | — | likely benign |
| rs7818376 | 8:72,123,817 | G/C | — | benign |
| rs79867447 | 8:72,127,562 | C/T | — | benign |
| rs7846086 | 8:72,127,563 | G/A | — | benign |
| rs76259565 | 8:72,127,604 | A/G | — | likely benign |
| rs984704558 | 8:72,127,614 | C/T | — | likely benign |
| rs1563630117 | 8:72,127,621 | C/T | — | pathogenic |
| rs1563630128 | 8:72,127,622 | C/G | — | pathogenic |
| rs1809056862 | 8:72,127,634 | C/T | — | uncertain significance |
| rs397517918 | 8:72,127,640 | A/T | missense variant | pathogenic |
| rs2537273857 | 8:72,127,642 | A/C | — | conflicting classifications of pathogenicity |
| rs2537273954 | 8:72,127,645 | T/A | — | uncertain significance |
| rs2537274059 | 8:72,127,649 | C/A | — | likely pathogenic |
| rs2537274776 | 8:72,127,674 | A/T | — | pathogenic |
| rs2128850056 | 8:72,127,676 | A/G | — | uncertain significance |
| rs1809062554 | 8:72,127,682 | G/T | — | likely pathogenic |
| rs1057520766 | 8:72,127,688 | T/A | stop gained | pathogenic |
| rs147434089 | 8:72,127,689 | C/T | — | likely benign |
| rs1585810559 | 8:72,127,690 | G/A | — | likely benign |
| rs1411717927 | 8:72,127,694 | A/T | — | uncertain significance |
| rs754901033 | 8:72,127,696 | G/A | — | uncertain significance |
| rs121909201 | 8:72,127,705 | A/C | missense variant | pathogenic |
| rs371495884 | 8:72,127,710 | A/G | — | uncertain significance |
| rs1585810834 | 8:72,127,714 | G/C | — | likely benign |
| rs751443883 | 8:72,127,731 | C/T | — | likely benign |
| rs1563630587 | 8:72,127,736 | A/T | — | likely pathogenic |
Showing 100 of 435 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.