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GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000053721.6

Allele description [Variation Report for GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3]

GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3

Genes:
  • ALG5:ALG5 dolichyl-phosphate beta-glucosyltransferase [Gene - OMIM - HGNC]
  • AMER2:APC membrane recruitment protein 2 [Gene - OMIM - HGNC]
  • LOC130009291:ATAC-STARR-seq lymphoblastoid active region 7403 [Gene]
  • LOC130009292:ATAC-STARR-seq lymphoblastoid active region 7404 [Gene]
  • LOC130009293:ATAC-STARR-seq lymphoblastoid active region 7405 [Gene]
  • LOC130009296:ATAC-STARR-seq lymphoblastoid active region 7406 [Gene]
  • LOC130009297:ATAC-STARR-seq lymphoblastoid active region 7407 [Gene]
  • LOC130009298:ATAC-STARR-seq lymphoblastoid active region 7408 [Gene]
  • LOC130009299:ATAC-STARR-seq lymphoblastoid active region 7409 [Gene]
  • LOC130009300:ATAC-STARR-seq lymphoblastoid active region 7410 [Gene]
  • LOC130009302:ATAC-STARR-seq lymphoblastoid active region 7412 [Gene]
  • LOC130009303:ATAC-STARR-seq lymphoblastoid active region 7413 [Gene]
  • LOC130009308:ATAC-STARR-seq lymphoblastoid active region 7415 [Gene]
  • LOC130009310:ATAC-STARR-seq lymphoblastoid active region 7416 [Gene]
  • LOC130009315:ATAC-STARR-seq lymphoblastoid active region 7417 [Gene]
  • LOC130009316:ATAC-STARR-seq lymphoblastoid active region 7418 [Gene]
  • LOC130009317:ATAC-STARR-seq lymphoblastoid active region 7419 [Gene]
  • LOC130009318:ATAC-STARR-seq lymphoblastoid active region 7420 [Gene]
  • LOC130009319:ATAC-STARR-seq lymphoblastoid active region 7421 [Gene]
  • LOC130009320:ATAC-STARR-seq lymphoblastoid active region 7422 [Gene]
  • LOC130009321:ATAC-STARR-seq lymphoblastoid active region 7423 [Gene]
  • LOC130009323:ATAC-STARR-seq lymphoblastoid active region 7424 [Gene]
  • LOC130009324:ATAC-STARR-seq lymphoblastoid active region 7425 [Gene]
  • LOC130009329:ATAC-STARR-seq lymphoblastoid active region 7426 [Gene]
  • LOC130009330:ATAC-STARR-seq lymphoblastoid active region 7427 [Gene]
  • LOC130009332:ATAC-STARR-seq lymphoblastoid active region 7428 [Gene]
  • LOC130009334:ATAC-STARR-seq lymphoblastoid active region 7429 [Gene]
  • LOC130009335:ATAC-STARR-seq lymphoblastoid active region 7430 [Gene]
  • LOC130009336:ATAC-STARR-seq lymphoblastoid active region 7431 [Gene]
  • LOC130009337:ATAC-STARR-seq lymphoblastoid active region 7432 [Gene]
  • LOC130009338:ATAC-STARR-seq lymphoblastoid active region 7433 [Gene]
  • LOC130009339:ATAC-STARR-seq lymphoblastoid active region 7434 [Gene]
  • LOC130009340:ATAC-STARR-seq lymphoblastoid active region 7435 [Gene]
  • LOC130009344:ATAC-STARR-seq lymphoblastoid active region 7436 [Gene]
  • LOC130009345:ATAC-STARR-seq lymphoblastoid active region 7437 [Gene]
  • LOC130009346:ATAC-STARR-seq lymphoblastoid active region 7438 [Gene]
  • LOC130009347:ATAC-STARR-seq lymphoblastoid active region 7440 [Gene]
  • LOC130009354:ATAC-STARR-seq lymphoblastoid active region 7441 [Gene]
  • LOC130009355:ATAC-STARR-seq lymphoblastoid active region 7442 [Gene]
  • LOC130009356:ATAC-STARR-seq lymphoblastoid active region 7443 [Gene]
  • LOC130009357:ATAC-STARR-seq lymphoblastoid active region 7444 [Gene]
  • LOC130009358:ATAC-STARR-seq lymphoblastoid active region 7445 [Gene]
  • LOC130009359:ATAC-STARR-seq lymphoblastoid active region 7446 [Gene]
  • LOC130009360:ATAC-STARR-seq lymphoblastoid active region 7447 [Gene]
  • LOC130009361:ATAC-STARR-seq lymphoblastoid active region 7448 [Gene]
  • LOC130009362:ATAC-STARR-seq lymphoblastoid active region 7449 [Gene]
  • LOC130009363:ATAC-STARR-seq lymphoblastoid active region 7450 [Gene]
  • LOC130009364:ATAC-STARR-seq lymphoblastoid active region 7451 [Gene]
  • LOC130009367:ATAC-STARR-seq lymphoblastoid active region 7452 [Gene]
  • LOC130009368:ATAC-STARR-seq lymphoblastoid active region 7453 [Gene]
  • LOC130009369:ATAC-STARR-seq lymphoblastoid active region 7454 [Gene]
  • LOC130009370:ATAC-STARR-seq lymphoblastoid active region 7455 [Gene]
  • LOC130009372:ATAC-STARR-seq lymphoblastoid active region 7456 [Gene]
  • LOC130009373:ATAC-STARR-seq lymphoblastoid active region 7457 [Gene]
  • LOC130009374:ATAC-STARR-seq lymphoblastoid active region 7458 [Gene]
  • LOC130009375:ATAC-STARR-seq lymphoblastoid active region 7459 [Gene]
  • LOC130009378:ATAC-STARR-seq lymphoblastoid active region 7460 [Gene]
  • LOC130009379:ATAC-STARR-seq lymphoblastoid active region 7461 [Gene]
  • LOC130009380:ATAC-STARR-seq lymphoblastoid active region 7462 [Gene]
  • LOC130009381:ATAC-STARR-seq lymphoblastoid active region 7463 [Gene]
  • LOC130009382:ATAC-STARR-seq lymphoblastoid active region 7464 [Gene]
  • LOC130009383:ATAC-STARR-seq lymphoblastoid active region 7465 [Gene]
  • LOC130009384:ATAC-STARR-seq lymphoblastoid active region 7466 [Gene]
  • LOC130009385:ATAC-STARR-seq lymphoblastoid active region 7467 [Gene]
  • LOC130009386:ATAC-STARR-seq lymphoblastoid active region 7468 [Gene]
  • LOC130009387:ATAC-STARR-seq lymphoblastoid active region 7469 [Gene]
  • LOC130009389:ATAC-STARR-seq lymphoblastoid active region 7470 [Gene]
  • LOC130009390:ATAC-STARR-seq lymphoblastoid active region 7472 [Gene]
  • LOC130009391:ATAC-STARR-seq lymphoblastoid active region 7473 [Gene]
  • LOC130009392:ATAC-STARR-seq lymphoblastoid active region 7474 [Gene]
  • LOC130009393:ATAC-STARR-seq lymphoblastoid active region 7475 [Gene]
  • LOC130009394:ATAC-STARR-seq lymphoblastoid active region 7476 [Gene]
  • LOC130009395:ATAC-STARR-seq lymphoblastoid active region 7477 [Gene]
  • LOC130009398:ATAC-STARR-seq lymphoblastoid active region 7478 [Gene]
  • LOC130009401:ATAC-STARR-seq lymphoblastoid active region 7479 [Gene]
  • LOC130009403:ATAC-STARR-seq lymphoblastoid active region 7480 [Gene]
  • LOC130009406:ATAC-STARR-seq lymphoblastoid active region 7481 [Gene]
  • LOC130009407:ATAC-STARR-seq lymphoblastoid active region 7482 [Gene]
  • LOC130009408:ATAC-STARR-seq lymphoblastoid active region 7484 [Gene]
  • LOC130009409:ATAC-STARR-seq lymphoblastoid active region 7485 [Gene]
  • LOC130009410:ATAC-STARR-seq lymphoblastoid active region 7486 [Gene]
  • LOC130009411:ATAC-STARR-seq lymphoblastoid active region 7487 [Gene]
  • LOC130009412:ATAC-STARR-seq lymphoblastoid active region 7488 [Gene]
  • LOC130009413:ATAC-STARR-seq lymphoblastoid active region 7489 [Gene]
  • LOC130009414:ATAC-STARR-seq lymphoblastoid active region 7490 [Gene]
  • LOC130009415:ATAC-STARR-seq lymphoblastoid active region 7491 [Gene]
  • LOC130009420:ATAC-STARR-seq lymphoblastoid active region 7493 [Gene]
  • LOC130009423:ATAC-STARR-seq lymphoblastoid active region 7495 [Gene]
  • LOC130009424:ATAC-STARR-seq lymphoblastoid active region 7496 [Gene]
  • LOC130009425:ATAC-STARR-seq lymphoblastoid active region 7497 [Gene]
  • LOC130009427:ATAC-STARR-seq lymphoblastoid active region 7498 [Gene]
  • LOC130009428:ATAC-STARR-seq lymphoblastoid active region 7499 [Gene]
  • LOC130009434:ATAC-STARR-seq lymphoblastoid active region 7500 [Gene]
  • LOC130009436:ATAC-STARR-seq lymphoblastoid active region 7502 [Gene]
  • LOC130009440:ATAC-STARR-seq lymphoblastoid active region 7503 [Gene]
  • LOC130009441:ATAC-STARR-seq lymphoblastoid active region 7504 [Gene]
  • LOC130009442:ATAC-STARR-seq lymphoblastoid active region 7506 [Gene]
  • LOC130009443:ATAC-STARR-seq lymphoblastoid active region 7507 [Gene]
  • LOC130009444:ATAC-STARR-seq lymphoblastoid active region 7508 [Gene]
  • LOC130009446:ATAC-STARR-seq lymphoblastoid active region 7509 [Gene]
  • LOC130009450:ATAC-STARR-seq lymphoblastoid active region 7510 [Gene]
  • LOC130009455:ATAC-STARR-seq lymphoblastoid active region 7511 [Gene]
  • LOC130009456:ATAC-STARR-seq lymphoblastoid active region 7512 [Gene]
  • LOC130009457:ATAC-STARR-seq lymphoblastoid active region 7513 [Gene]
  • LOC130009458:ATAC-STARR-seq lymphoblastoid active region 7514 [Gene]
  • LOC130009464:ATAC-STARR-seq lymphoblastoid active region 7515 [Gene]
  • LOC130009465:ATAC-STARR-seq lymphoblastoid active region 7516 [Gene]
  • LOC130009466:ATAC-STARR-seq lymphoblastoid active region 7517 [Gene]
  • LOC130009471:ATAC-STARR-seq lymphoblastoid active region 7519 [Gene]
  • LOC130009472:ATAC-STARR-seq lymphoblastoid active region 7520 [Gene]
  • LOC130009474:ATAC-STARR-seq lymphoblastoid active region 7522 [Gene]
  • LOC130009476:ATAC-STARR-seq lymphoblastoid active region 7523 [Gene]
  • LOC130009477:ATAC-STARR-seq lymphoblastoid active region 7524 [Gene]
  • LOC130009478:ATAC-STARR-seq lymphoblastoid active region 7525 [Gene]
  • LOC130009480:ATAC-STARR-seq lymphoblastoid active region 7526 [Gene]
  • LOC130009482:ATAC-STARR-seq lymphoblastoid active region 7527 [Gene]
  • LOC130009483:ATAC-STARR-seq lymphoblastoid active region 7528 [Gene]
  • LOC130009484:ATAC-STARR-seq lymphoblastoid active region 7529 [Gene]
  • LOC130009486:ATAC-STARR-seq lymphoblastoid active region 7530 [Gene]
  • LOC130009487:ATAC-STARR-seq lymphoblastoid active region 7531 [Gene]
  • LOC130009488:ATAC-STARR-seq lymphoblastoid active region 7532 [Gene]
  • LOC130009492:ATAC-STARR-seq lymphoblastoid active region 7533 [Gene]
  • LOC130009493:ATAC-STARR-seq lymphoblastoid active region 7534 [Gene]
  • LOC130009498:ATAC-STARR-seq lymphoblastoid active region 7536 [Gene]
  • LOC130009500:ATAC-STARR-seq lymphoblastoid active region 7537 [Gene]
  • LOC130009501:ATAC-STARR-seq lymphoblastoid active region 7538 [Gene]
  • LOC130009502:ATAC-STARR-seq lymphoblastoid active region 7539 [Gene]
  • LOC130009503:ATAC-STARR-seq lymphoblastoid active region 7540 [Gene]
  • LOC130009504:ATAC-STARR-seq lymphoblastoid active region 7541 [Gene]
  • LOC130009505:ATAC-STARR-seq lymphoblastoid active region 7542 [Gene]
  • LOC130009507:ATAC-STARR-seq lymphoblastoid active region 7544 [Gene]
  • LOC130009509:ATAC-STARR-seq lymphoblastoid active region 7545 [Gene]
  • LOC130009510:ATAC-STARR-seq lymphoblastoid active region 7546 [Gene]
  • LOC130009511:ATAC-STARR-seq lymphoblastoid active region 7548 [Gene]
  • LOC130009512:ATAC-STARR-seq lymphoblastoid active region 7551 [Gene]
  • LOC130009517:ATAC-STARR-seq lymphoblastoid active region 7552 [Gene]
  • LOC130009518:ATAC-STARR-seq lymphoblastoid active region 7553 [Gene]
  • LOC130009523:ATAC-STARR-seq lymphoblastoid active region 7554 [Gene]
  • LOC130009524:ATAC-STARR-seq lymphoblastoid active region 7555 [Gene]
  • LOC130009525:ATAC-STARR-seq lymphoblastoid active region 7556 [Gene]
  • LOC130009526:ATAC-STARR-seq lymphoblastoid active region 7557 [Gene]
  • LOC130009527:ATAC-STARR-seq lymphoblastoid active region 7558 [Gene]
  • LOC130009529:ATAC-STARR-seq lymphoblastoid active region 7559 [Gene]
  • LOC130009530:ATAC-STARR-seq lymphoblastoid active region 7560 [Gene]
  • LOC130009534:ATAC-STARR-seq lymphoblastoid active region 7563 [Gene]
  • LOC130009535:ATAC-STARR-seq lymphoblastoid active region 7564 [Gene]
  • LOC130009537:ATAC-STARR-seq lymphoblastoid active region 7565 [Gene]
  • LOC130009538:ATAC-STARR-seq lymphoblastoid active region 7566 [Gene]
  • LOC130009540:ATAC-STARR-seq lymphoblastoid active region 7567 [Gene]
  • LOC130009541:ATAC-STARR-seq lymphoblastoid active region 7568 [Gene]
  • LOC130009542:ATAC-STARR-seq lymphoblastoid active region 7569 [Gene]
  • LOC130009543:ATAC-STARR-seq lymphoblastoid active region 7570 [Gene]
  • LOC130009544:ATAC-STARR-seq lymphoblastoid active region 7571 [Gene]
  • LOC130009545:ATAC-STARR-seq lymphoblastoid active region 7572 [Gene]
  • LOC130009546:ATAC-STARR-seq lymphoblastoid active region 7573 [Gene]
  • LOC130009547:ATAC-STARR-seq lymphoblastoid active region 7574 [Gene]
  • LOC130009548:ATAC-STARR-seq lymphoblastoid active region 7575 [Gene]
  • LOC130009550:ATAC-STARR-seq lymphoblastoid active region 7576 [Gene]
  • LOC130009551:ATAC-STARR-seq lymphoblastoid active region 7577 [Gene]
  • LOC130009552:ATAC-STARR-seq lymphoblastoid active region 7578 [Gene]
  • LOC130009553:ATAC-STARR-seq lymphoblastoid active region 7579 [Gene]
  • LOC130009554:ATAC-STARR-seq lymphoblastoid active region 7580 [Gene]
  • LOC130009555:ATAC-STARR-seq lymphoblastoid active region 7581 [Gene]
  • LOC130009556:ATAC-STARR-seq lymphoblastoid active region 7582 [Gene]
  • LOC130009557:ATAC-STARR-seq lymphoblastoid active region 7583 [Gene]
  • LOC130009558:ATAC-STARR-seq lymphoblastoid active region 7584 [Gene]
  • LOC130009559:ATAC-STARR-seq lymphoblastoid active region 7585 [Gene]
  • LOC130009562:ATAC-STARR-seq lymphoblastoid active region 7586 [Gene]
  • LOC130009567:ATAC-STARR-seq lymphoblastoid active region 7587 [Gene]
  • LOC130009568:ATAC-STARR-seq lymphoblastoid active region 7588 [Gene]
  • LOC130009574:ATAC-STARR-seq lymphoblastoid active region 7589 [Gene]
  • LOC130009575:ATAC-STARR-seq lymphoblastoid active region 7590 [Gene]
  • LOC130009579:ATAC-STARR-seq lymphoblastoid active region 7591 [Gene]
  • LOC130009580:ATAC-STARR-seq lymphoblastoid active region 7592 [Gene]
  • LOC130009581:ATAC-STARR-seq lymphoblastoid active region 7593 [Gene]
  • LOC130009582:ATAC-STARR-seq lymphoblastoid active region 7594 [Gene]
  • LOC130009290:ATAC-STARR-seq lymphoblastoid silent region 5137 [Gene]
  • LOC130009294:ATAC-STARR-seq lymphoblastoid silent region 5138 [Gene]
  • LOC130009295:ATAC-STARR-seq lymphoblastoid silent region 5139 [Gene]
  • LOC130009301:ATAC-STARR-seq lymphoblastoid silent region 5140 [Gene]
  • LOC130009304:ATAC-STARR-seq lymphoblastoid silent region 5142 [Gene]
  • LOC130009305:ATAC-STARR-seq lymphoblastoid silent region 5145 [Gene]
  • LOC130009306:ATAC-STARR-seq lymphoblastoid silent region 5146 [Gene]
  • LOC130009307:ATAC-STARR-seq lymphoblastoid silent region 5147 [Gene]
  • LOC130009309:ATAC-STARR-seq lymphoblastoid silent region 5148 [Gene]
  • LOC130009311:ATAC-STARR-seq lymphoblastoid silent region 5149 [Gene]
  • LOC130009312:ATAC-STARR-seq lymphoblastoid silent region 5150 [Gene]
  • LOC130009313:ATAC-STARR-seq lymphoblastoid silent region 5151 [Gene]
  • LOC130009314:ATAC-STARR-seq lymphoblastoid silent region 5152 [Gene]
  • LOC130009322:ATAC-STARR-seq lymphoblastoid silent region 5153 [Gene]
  • LOC130009325:ATAC-STARR-seq lymphoblastoid silent region 5154 [Gene]
  • LOC130009326:ATAC-STARR-seq lymphoblastoid silent region 5155 [Gene]
  • LOC130009327:ATAC-STARR-seq lymphoblastoid silent region 5156 [Gene]
  • LOC130009328:ATAC-STARR-seq lymphoblastoid silent region 5157 [Gene]
  • LOC130009331:ATAC-STARR-seq lymphoblastoid silent region 5158 [Gene]
  • LOC130009333:ATAC-STARR-seq lymphoblastoid silent region 5160 [Gene]
  • LOC130009341:ATAC-STARR-seq lymphoblastoid silent region 5161 [Gene]
  • LOC130009342:ATAC-STARR-seq lymphoblastoid silent region 5162 [Gene]
  • LOC130009343:ATAC-STARR-seq lymphoblastoid silent region 5163 [Gene]
  • LOC130009348:ATAC-STARR-seq lymphoblastoid silent region 5165 [Gene]
  • LOC130009349:ATAC-STARR-seq lymphoblastoid silent region 5166 [Gene]
  • LOC130009350:ATAC-STARR-seq lymphoblastoid silent region 5167 [Gene]
  • LOC130009351:ATAC-STARR-seq lymphoblastoid silent region 5168 [Gene]
  • LOC130009352:ATAC-STARR-seq lymphoblastoid silent region 5169 [Gene]
  • LOC130009353:ATAC-STARR-seq lymphoblastoid silent region 5170 [Gene]
  • LOC130009365:ATAC-STARR-seq lymphoblastoid silent region 5171 [Gene]
  • LOC130009366:ATAC-STARR-seq lymphoblastoid silent region 5172 [Gene]
  • LOC130009371:ATAC-STARR-seq lymphoblastoid silent region 5173 [Gene]
  • LOC130009376:ATAC-STARR-seq lymphoblastoid silent region 5174 [Gene]
  • LOC130009377:ATAC-STARR-seq lymphoblastoid silent region 5175 [Gene]
  • LOC130009388:ATAC-STARR-seq lymphoblastoid silent region 5176 [Gene]
  • LOC130009396:ATAC-STARR-seq lymphoblastoid silent region 5177 [Gene]
  • LOC130009397:ATAC-STARR-seq lymphoblastoid silent region 5178 [Gene]
  • LOC130009399:ATAC-STARR-seq lymphoblastoid silent region 5179 [Gene]
  • LOC130009400:ATAC-STARR-seq lymphoblastoid silent region 5180 [Gene]
  • LOC130009402:ATAC-STARR-seq lymphoblastoid silent region 5181 [Gene]
  • LOC130009404:ATAC-STARR-seq lymphoblastoid silent region 5183 [Gene]
  • LOC130009405:ATAC-STARR-seq lymphoblastoid silent region 5184 [Gene]
  • LOC130009416:ATAC-STARR-seq lymphoblastoid silent region 5186 [Gene]
  • LOC130009417:ATAC-STARR-seq lymphoblastoid silent region 5187 [Gene]
  • LOC130009418:ATAC-STARR-seq lymphoblastoid silent region 5188 [Gene]
  • LOC130009419:ATAC-STARR-seq lymphoblastoid silent region 5189 [Gene]
  • LOC130009421:ATAC-STARR-seq lymphoblastoid silent region 5190 [Gene]
  • LOC130009422:ATAC-STARR-seq lymphoblastoid silent region 5191 [Gene]
  • LOC130009426:ATAC-STARR-seq lymphoblastoid silent region 5192 [Gene]
  • LOC130009429:ATAC-STARR-seq lymphoblastoid silent region 5193 [Gene]
  • LOC130009430:ATAC-STARR-seq lymphoblastoid silent region 5194 [Gene]
  • LOC130009431:ATAC-STARR-seq lymphoblastoid silent region 5195 [Gene]
  • LOC130009432:ATAC-STARR-seq lymphoblastoid silent region 5196 [Gene]
  • LOC130009433:ATAC-STARR-seq lymphoblastoid silent region 5197 [Gene]
  • LOC130009435:ATAC-STARR-seq lymphoblastoid silent region 5199 [Gene]
  • LOC130009437:ATAC-STARR-seq lymphoblastoid silent region 5200 [Gene]
  • LOC130009438:ATAC-STARR-seq lymphoblastoid silent region 5201 [Gene]
  • LOC130009439:ATAC-STARR-seq lymphoblastoid silent region 5202 [Gene]
  • LOC130009445:ATAC-STARR-seq lymphoblastoid silent region 5204 [Gene]
  • LOC130009447:ATAC-STARR-seq lymphoblastoid silent region 5205 [Gene]
  • LOC130009448:ATAC-STARR-seq lymphoblastoid silent region 5206 [Gene]
  • LOC130009449:ATAC-STARR-seq lymphoblastoid silent region 5207 [Gene]
  • LOC130009451:ATAC-STARR-seq lymphoblastoid silent region 5208 [Gene]
  • LOC130009452:ATAC-STARR-seq lymphoblastoid silent region 5209 [Gene]
  • LOC130009453:ATAC-STARR-seq lymphoblastoid silent region 5210 [Gene]
  • LOC130009454:ATAC-STARR-seq lymphoblastoid silent region 5211 [Gene]
  • LOC130009459:ATAC-STARR-seq lymphoblastoid silent region 5212 [Gene]
  • LOC130009460:ATAC-STARR-seq lymphoblastoid silent region 5213 [Gene]
  • LOC130009461:ATAC-STARR-seq lymphoblastoid silent region 5214 [Gene]
  • LOC130009462:ATAC-STARR-seq lymphoblastoid silent region 5215 [Gene]
  • LOC130009463:ATAC-STARR-seq lymphoblastoid silent region 5216 [Gene]
  • LOC130009467:ATAC-STARR-seq lymphoblastoid silent region 5217 [Gene]
  • LOC130009468:ATAC-STARR-seq lymphoblastoid silent region 5218 [Gene]
  • LOC130009469:ATAC-STARR-seq lymphoblastoid silent region 5219 [Gene]
  • LOC130009470:ATAC-STARR-seq lymphoblastoid silent region 5221 [Gene]
  • LOC130009473:ATAC-STARR-seq lymphoblastoid silent region 5222 [Gene]
  • LOC130009475:ATAC-STARR-seq lymphoblastoid silent region 5223 [Gene]
  • LOC130009479:ATAC-STARR-seq lymphoblastoid silent region 5224 [Gene]
  • LOC130009481:ATAC-STARR-seq lymphoblastoid silent region 5225 [Gene]
  • LOC130009485:ATAC-STARR-seq lymphoblastoid silent region 5226 [Gene]
  • LOC130009489:ATAC-STARR-seq lymphoblastoid silent region 5227 [Gene]
  • LOC130009490:ATAC-STARR-seq lymphoblastoid silent region 5228 [Gene]
  • LOC130009491:ATAC-STARR-seq lymphoblastoid silent region 5229 [Gene]
  • LOC130009494:ATAC-STARR-seq lymphoblastoid silent region 5230 [Gene]
  • LOC130009495:ATAC-STARR-seq lymphoblastoid silent region 5231 [Gene]
  • LOC130009496:ATAC-STARR-seq lymphoblastoid silent region 5232 [Gene]
  • LOC130009497:ATAC-STARR-seq lymphoblastoid silent region 5233 [Gene]
  • LOC130009499:ATAC-STARR-seq lymphoblastoid silent region 5235 [Gene]
  • LOC130009506:ATAC-STARR-seq lymphoblastoid silent region 5236 [Gene]
  • LOC130009508:ATAC-STARR-seq lymphoblastoid silent region 5238 [Gene]
  • LOC130009513:ATAC-STARR-seq lymphoblastoid silent region 5239 [Gene]
  • LOC130009514:ATAC-STARR-seq lymphoblastoid silent region 5240 [Gene]
  • LOC130009515:ATAC-STARR-seq lymphoblastoid silent region 5241 [Gene]
  • LOC130009516:ATAC-STARR-seq lymphoblastoid silent region 5242 [Gene]
  • LOC130009519:ATAC-STARR-seq lymphoblastoid silent region 5244 [Gene]
  • LOC130009520:ATAC-STARR-seq lymphoblastoid silent region 5245 [Gene]
  • LOC130009521:ATAC-STARR-seq lymphoblastoid silent region 5246 [Gene]
  • LOC130009522:ATAC-STARR-seq lymphoblastoid silent region 5247 [Gene]
  • LOC130009528:ATAC-STARR-seq lymphoblastoid silent region 5248 [Gene]
  • LOC130009531:ATAC-STARR-seq lymphoblastoid silent region 5249 [Gene]
  • LOC130009532:ATAC-STARR-seq lymphoblastoid silent region 5250 [Gene]
  • LOC130009533:ATAC-STARR-seq lymphoblastoid silent region 5251 [Gene]
  • LOC130009536:ATAC-STARR-seq lymphoblastoid silent region 5252 [Gene]
  • LOC130009539:ATAC-STARR-seq lymphoblastoid silent region 5254 [Gene]
  • LOC130009549:ATAC-STARR-seq lymphoblastoid silent region 5255 [Gene]
  • LOC130009560:ATAC-STARR-seq lymphoblastoid silent region 5256 [Gene]
  • LOC130009561:ATAC-STARR-seq lymphoblastoid silent region 5257 [Gene]
  • LOC130009563:ATAC-STARR-seq lymphoblastoid silent region 5259 [Gene]
  • LOC130009564:ATAC-STARR-seq lymphoblastoid silent region 5260 [Gene]
  • LOC130009565:ATAC-STARR-seq lymphoblastoid silent region 5261 [Gene]
  • LOC130009566:ATAC-STARR-seq lymphoblastoid silent region 5262 [Gene]
  • LOC130009569:ATAC-STARR-seq lymphoblastoid silent region 5263 [Gene]
  • LOC130009570:ATAC-STARR-seq lymphoblastoid silent region 5264 [Gene]
  • LOC130009571:ATAC-STARR-seq lymphoblastoid silent region 5265 [Gene]
  • LOC130009572:ATAC-STARR-seq lymphoblastoid silent region 5266 [Gene]
  • LOC130009573:ATAC-STARR-seq lymphoblastoid silent region 5267 [Gene]
  • LOC130009576:ATAC-STARR-seq lymphoblastoid silent region 5268 [Gene]
  • LOC130009577:ATAC-STARR-seq lymphoblastoid silent region 5269 [Gene]
  • LOC130009578:ATAC-STARR-seq lymphoblastoid silent region 5270 [Gene]
  • LOC130009583:ATAC-STARR-seq lymphoblastoid silent region 5271 [Gene]
  • ATP12A:ATPase H+/K+ transporting non-gastric alpha2 subunit [Gene - OMIM - HGNC]
  • ATP8A2:ATPase phospholipid transporting 8A2 [Gene - OMIM - HGNC]
  • BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
  • LOC106721785:BRCA2 promoter/silencer region [Gene]
  • LOC126861704:BRD4-independent group 4 enhancer GRCh37_chr13:20953976-20955175 [Gene]
  • LOC126861706:BRD4-independent group 4 enhancer GRCh37_chr13:22976932-22978131 [Gene]
  • LOC126861707:BRD4-independent group 4 enhancer GRCh37_chr13:23126652-23127851 [Gene]
  • LOC126861711:BRD4-independent group 4 enhancer GRCh37_chr13:25747285-25748484 [Gene]
  • LOC126861715:BRD4-independent group 4 enhancer GRCh37_chr13:27824999-27826198 [Gene]
  • LOC126861716:BRD4-independent group 4 enhancer GRCh37_chr13:27909191-27910390 [Gene]
  • LOC126861718:BRD4-independent group 4 enhancer GRCh37_chr13:28008622-28009821 [Gene]
  • LOC126861720:BRD4-independent group 4 enhancer GRCh37_chr13:28896366-28897565 [Gene]
  • LOC126861723:BRD4-independent group 4 enhancer GRCh37_chr13:30727396-30728595 [Gene]
  • LOC126861728:BRD4-independent group 4 enhancer GRCh37_chr13:32212414-32213613 [Gene]
  • LOC126861730:BRD4-independent group 4 enhancer GRCh37_chr13:32784277-32785476 [Gene]
  • LOC126861735:BRD4-independent group 4 enhancer GRCh37_chr13:34798824-34800023 [Gene]
  • C1QTNF9:C1q and TNF related 9 [Gene - OMIM - HGNC]
  • C1QTNF9B:C1q and TNF related 9B [Gene - OMIM - HGNC]
  • CCDC169-SOHLH2:CCDC169-SOHLH2 readthrough [Gene - HGNC]
  • LOC126861705:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:20993166-20994365 [Gene]
  • LOC126861708:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:25267931-25269130 [Gene]
  • LOC126861709:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:25284257-25285456 [Gene]
  • LOC126861712:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:27609934-27611133 [Gene]
  • LOC126861717:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:27947836-27949035 [Gene]
  • LOC126861721:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:29148510-29149709 [Gene]
  • LOC126861725:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:31317812-31319011 [Gene]
  • LOC126861726:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:31372741-31373940 [Gene]
  • LOC126861729:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:32739396-32740595 [Gene]
  • LOC126861731:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:32827763-32828962 [Gene]
  • LOC126861732:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:33760051-33761250 [Gene]
  • LOC126861733:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:34594074-34595273 [Gene]
  • LOC126861736:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:35196276-35197475 [Gene]
  • LOC126861742:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:37011626-37012825 [Gene]
  • LOC116268454:CRISPRi-validated cis-regulatory element chr13.188 [Gene]
  • EEF1AKMT1:EEF1A lysine methyltransferase 1 [Gene - OMIM - HGNC]
  • FRY-AS1:FRY antisense RNA 1 [Gene - HGNC]
  • FRY:FRY microtubule binding protein [Gene - OMIM - HGNC]
  • GPR12:G protein-coupled receptor 12 [Gene - OMIM - HGNC]
  • GSX1:GS homeobox 1 [Gene - OMIM - HGNC]
  • MPHOSPH8:M-phase phosphoprotein 8 [Gene - OMIM - HGNC]
  • LOC126861710:MED14-independent group 3 enhancer GRCh37_chr13:25484884-25486083 [Gene]
  • LOC126861719:MED14-independent group 3 enhancer GRCh37_chr13:28302713-28303912 [Gene]
  • LOC126861722:MED14-independent group 3 enhancer GRCh37_chr13:30276622-30277821 [Gene]
  • LOC126861737:MED14-independent group 3 enhancer GRCh37_chr13:35441009-35442208 [Gene]
  • LOC126861738:MED14-independent group 3 enhancer GRCh37_chr13:35505422-35506621 [Gene]
  • LOC126861741:MED14-independent group 3 enhancer GRCh37_chr13:36587826-36589025 [Gene]
  • LOC126861743:MED14-independent group 3 enhancer GRCh37_chr13:37363192-37364391 [Gene]
  • LOC129390596:MPRA-validated peak2058 silencer [Gene]
  • LOC129390597:MPRA-validated peak2059 silencer [Gene]
  • LOC129390598:MPRA-validated peak2063 silencer [Gene]
  • LOC129390599:MPRA-validated peak2067 silencer [Gene]
  • LOC129390600:MPRA-validated peak2068 silencer [Gene]
  • MTUS2-AS1:MTUS2 antisense RNA 1 [Gene - HGNC]
  • MTUS2-AS2:MTUS2 antisense RNA 2 [Gene - HGNC]
  • N4BP2L2-IT2:N4BPL2 intronic transcript 2 [Gene - HGNC]
  • N4BP2L1:NEDD4 binding protein 2 like 1 [Gene - HGNC]
  • N4BP2L2:NEDD4 binding protein 2 like 2 [Gene - OMIM - HGNC]
  • LOC132090175:Neanderthal introgressed variant-containing enhancer experimental_32461 [Gene]
  • LOC132090176:Neanderthal introgressed variant-containing enhancer experimental_32608 [Gene]
  • LOC132090177:Neanderthal introgressed variant-containing enhancer experimental_32642 [Gene]
  • LOC132090178:Neanderthal introgressed variant-containing enhancer experimental_32663 [Gene]
  • LOC132090179:Neanderthal introgressed variant-containing enhancer experimental_32684 [Gene]
  • LOC132090180:Neanderthal introgressed variant-containing enhancer experimental_32713 [Gene]
  • LOC132090181:Neanderthal introgressed variant-containing enhancer experimental_32734 [Gene]
  • LOC132090182:Neanderthal introgressed variant-containing enhancer experimental_32745 [Gene]
  • LOC132090183:Neanderthal introgressed variant-containing enhancer experimental_32764 [Gene]
  • LOC132090184:Neanderthal introgressed variant-containing enhancer experimental_32788 [Gene]
  • LOC132090185:Neanderthal introgressed variant-containing enhancer experimental_32805 [Gene]
  • LOC132090186:Neanderthal introgressed variant-containing enhancer experimental_32806 [Gene]
  • LOC132090187:Neanderthal introgressed variant-containing enhancer experimental_32807 [Gene]
  • LOC132090188:Neanderthal introgressed variant-containing enhancer experimental_32809 [Gene]
  • LOC132090189:Neanderthal introgressed variant-containing enhancer experimental_32810 [Gene]
  • LOC132090190:Neanderthal introgressed variant-containing enhancer experimental_32819 [Gene]
  • LOC126861703:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:20748586-20749785 [Gene]
  • LOC126861713:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:27756774-27757973 [Gene]
  • LOC126861714:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:27768950-27770149 [Gene]
  • LOC126861724:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:30912012-30913211 [Gene]
  • LOC126861727:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:31619425-31620624 [Gene]
  • LOC126861734:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:34730690-34731889 [Gene]
  • LOC126861739:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:36429462-36430661 [Gene]
  • LOC126861740:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:36466409-36467608 [Gene]
  • PAN3-AS1:PAN3 antisense RNA 1 [Gene - HGNC]
  • PDS5B:PDS5 cohesin associated factor B [Gene - OMIM - HGNC]
  • PLUT:PDX1 associated lncRNA, upregulator of transcription [Gene - HGNC]
  • LOC101928697:Putative uncharacterized protein LOC645739 [Gene]
  • RASL11A:RAS like family 11 member A [Gene - OMIM - HGNC]
  • POLR1D:RNA polymerase I and III subunit D [Gene - OMIM - HGNC]
  • SACS-AS1:SACS antisense RNA 1 [Gene - HGNC]
  • SMAD9:SMAD family member 9 [Gene - OMIM - HGNC]
  • SPART-AS1:SPART antisense RNA 1 [Gene - HGNC]
  • SPATA13-AS1:SPATA13 antisense RNA 1 [Gene - HGNC]
  • SUPT20H:SPT20 homolog, SAGA complex component [Gene - OMIM - HGNC]
  • STARD13-AS:STARD13 antisense RNA [Gene - HGNC]
  • LOC112163649:Sharpr-MPRA regulatory region 10151 [Gene]
  • LOC112163652:Sharpr-MPRA regulatory region 10155 [Gene]
  • LOC124849303:Sharpr-MPRA regulatory region 10890 [Gene]
  • LOC124849293:Sharpr-MPRA regulatory region 1095 [Gene]
  • LOC124855082:Sharpr-MPRA regulatory region 11126 [Gene]
  • LOC121838572:Sharpr-MPRA regulatory region 11275 [Gene]
  • LOC124855081:Sharpr-MPRA regulatory region 1134 [Gene]
  • LOC124849298:Sharpr-MPRA regulatory region 11501 [Gene]
  • LOC112163650:Sharpr-MPRA regulatory region 11800 [Gene]
  • LOC124849302:Sharpr-MPRA regulatory region 13742 [Gene]
  • LOC121466731:Sharpr-MPRA regulatory region 14424 [Gene]
  • LOC124849292:Sharpr-MPRA regulatory region 1468 [Gene]
  • LOC124855084:Sharpr-MPRA regulatory region 14903 [Gene]
  • LOC124855083:Sharpr-MPRA regulatory region 14935 [Gene]
  • LOC113939938:Sharpr-MPRA regulatory region 1517 [Gene]
  • LOC124855075:Sharpr-MPRA regulatory region 1526 [Gene]
  • LOC124849299:Sharpr-MPRA regulatory region 15462 [Gene]
  • LOC124855085:Sharpr-MPRA regulatory region 1712 [Gene]
  • LOC112163653:Sharpr-MPRA regulatory region 1962 [Gene]
  • LOC124855076:Sharpr-MPRA regulatory region 2624 [Gene]
  • LOC124849301:Sharpr-MPRA regulatory region 3220 [Gene]
  • LOC112163654:Sharpr-MPRA regulatory region 3304 [Gene]
  • LOC121466728:Sharpr-MPRA regulatory region 3329 [Gene]
  • LOC124849307:Sharpr-MPRA regulatory region 3331 [Gene]
  • LOC124849294:Sharpr-MPRA regulatory region 3351 [Gene]
  • LOC124849297:Sharpr-MPRA regulatory region 4719 [Gene]
  • LOC124855078:Sharpr-MPRA regulatory region 5009 [Gene]
  • LOC124849304:Sharpr-MPRA regulatory region 5274 [Gene]
  • LOC124849295:Sharpr-MPRA regulatory region 6352 [Gene]
  • LOC112163647:Sharpr-MPRA regulatory region 6807 [Gene]
  • LOC124855080:Sharpr-MPRA regulatory region 6808 [Gene]
  • LOC121466730:Sharpr-MPRA regulatory region 712 [Gene]
  • LOC124855077:Sharpr-MPRA regulatory region 7321 [Gene]
  • LOC124849306:Sharpr-MPRA regulatory region 7938 [Gene]
  • LOC124849305:Sharpr-MPRA regulatory region 7947 [Gene]
  • LOC124849296:Sharpr-MPRA regulatory region 8397 [Gene]
  • LOC112163648:Sharpr-MPRA regulatory region 8838 [Gene]
  • LOC121838573:Sharpr-MPRA regulatory region 8918 [Gene]
  • LOC121838574:Sharpr-MPRA regulatory region 9111 [Gene]
  • LOC112163651:Sharpr-MPRA regulatory region 9463 [Gene]
  • LOC121466729:Sharpr-MPRA regulatory region 9740 [Gene]
  • LOC124849300:Sharpr-MPRA regulatory region 9769 [Gene]
  • SAP18:Sin3A associated protein 18 [Gene - OMIM - HGNC]
  • STARD13:StAR related lipid transfer domain containing 13 [Gene - OMIM - HGNC]
  • TEX26-AS1:TEX26 antisense RNA 1 [Gene - HGNC]
  • TNFRSF19:TNF receptor superfamily member 19 [Gene - OMIM - HGNC]
  • TPTE2-AS1:TPTE2 antisense RNA 1 [Gene - HGNC]
  • USP12-AS1:USP12 antisense RNA 1 [Gene - HGNC]
  • USP12-DT:USP12 divergent transcript [Gene - HGNC]
  • LOC110121346:VISTA enhancer hs1330 [Gene]
  • LOC110121347:VISTA enhancer hs1333 [Gene]
  • LOC110121384:VISTA enhancer hs1515 [Gene]
  • LOC110121400:VISTA enhancer hs1568 [Gene]
  • LOC110120889:VISTA enhancer hs532 [Gene]
  • WASF3:WASP family member 3 [Gene - OMIM - HGNC]
  • ALOX5AP:arachidonate 5-lipoxygenase activating protein [Gene - OMIM - HGNC]
  • B3GLCT:beta 3-glucosyltransferase [Gene - OMIM - HGNC]
  • CSNK1A1L:casein kinase 1 alpha 1 like [Gene - HGNC]
  • CDX2:caudal type homeobox 2 [Gene - OMIM - HGNC]
  • CENPJ:centromere protein J [Gene - OMIM - HGNC]
  • CCDC169:coiled-coil domain containing 169 [Gene - HGNC]
  • LOC101928764:coiled-coil domain-containing protein 144B [Gene]
  • LOC106783494:conserved acetylation island sequence 9 enhancer [Gene]
  • CRYL1:crystallin lambda 1 [Gene - OMIM - HGNC]
  • CCNA1:cyclin A1 [Gene - OMIM - HGNC]
  • CDK8:cyclin dependent kinase 8 [Gene - OMIM - HGNC]
  • DCLK1:doublecortin like kinase 1 [Gene - OMIM - HGNC]
  • EXOSC8:exosome component 8 [Gene - OMIM - HGNC]
  • XPO4:exportin 4 [Gene - OMIM - HGNC]
  • FGF9:fibroblast growth factor 9 [Gene - OMIM - HGNC]
  • FLT1:fms related receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
  • FLT3:fms related receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
  • GJA3:gap junction protein alpha 3 [Gene - OMIM - HGNC]
  • GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
  • GJB6:gap junction protein beta 6 [Gene - OMIM - HGNC]
  • GTF3A:general transcription factor IIIA [Gene - OMIM - HGNC]
  • HSPH1:heat shock protein family H (Hsp110) member 1 [Gene - OMIM - HGNC]
  • HMGB1:high mobility group box 1 [Gene - OMIM - HGNC]
  • IL17D:interleukin 17D [Gene - OMIM - HGNC]
  • IFT88:intraflagellar transport 88 [Gene - OMIM - HGNC]
  • KATNAL1:katanin catalytic subunit A1 like 1 [Gene - OMIM - HGNC]
  • KL:klotho [Gene - OMIM - HGNC]
  • LATS2:large tumor suppressor kinase 2 [Gene - OMIM - HGNC]
  • LNX2:ligand of numb-protein X 2 [Gene - OMIM - HGNC]
  • LINC01046:long intergenic non-protein coding RNA 1046 [Gene - HGNC]
  • LINC01048:long intergenic non-protein coding RNA 1048 [Gene - HGNC]
  • LINC01053:long intergenic non-protein coding RNA 1053 [Gene - HGNC]
  • LINC01058:long intergenic non-protein coding RNA 1058 [Gene - HGNC]
  • LINC01066:long intergenic non-protein coding RNA 1066 [Gene - HGNC]
  • LINC01072:long intergenic non-protein coding RNA 1072 [Gene - HGNC]
  • LINC02340:long intergenic non-protein coding RNA 2340 [Gene - HGNC]
  • LINC02343:long intergenic non-protein coding RNA 2343 [Gene - HGNC]
  • LINC02344:long intergenic non-protein coding RNA 2344 [Gene - HGNC]
  • LINC00297:long intergenic non-protein coding RNA 297 [Gene - HGNC]
  • LINC00327:long intergenic non-protein coding RNA 327 [Gene - HGNC]
  • LINC00362:long intergenic non-protein coding RNA 362 [Gene - HGNC]
  • LINC00365:long intergenic non-protein coding RNA 365 [Gene - HGNC]
  • LINC00367:long intergenic non-protein coding RNA 367 [Gene - HGNC]
  • LINC00384:long intergenic non-protein coding RNA 384 [Gene - HGNC]
  • LINC00385:long intergenic non-protein coding RNA 385 [Gene - HGNC]
  • LINC00398:long intergenic non-protein coding RNA 398 [Gene - HGNC]
  • LINC00408:long intergenic non-protein coding RNA 408 [Gene - HGNC]
  • LINC00412:long intergenic non-protein coding RNA 412 [Gene - HGNC]
  • LINC00415:long intergenic non-protein coding RNA 415 [Gene - HGNC]
  • LINC00417:long intergenic non-protein coding RNA 417 [Gene]
  • LINC00421:long intergenic non-protein coding RNA 421 [Gene - HGNC]
  • LINC00423:long intergenic non-protein coding RNA 423 [Gene - HGNC]
  • LINC00424:long intergenic non-protein coding RNA 424 [Gene - HGNC]
  • LINC00426:long intergenic non-protein coding RNA 426 [Gene - HGNC]
  • LINC00427:long intergenic non-protein coding RNA 427 [Gene - HGNC]
  • LINC00442:long intergenic non-protein coding RNA 442 [Gene - HGNC]
  • LINC00445:long intergenic non-protein coding RNA 445 [Gene - HGNC]
  • LINC00457:long intergenic non-protein coding RNA 457 [Gene - HGNC]
  • LINC00463:long intergenic non-protein coding RNA 463 [Gene - HGNC]
  • LINC00539:long intergenic non-protein coding RNA 539 [Gene - HGNC]
  • LINC00540:long intergenic non-protein coding RNA 540 [Gene - HGNC]
  • LINC00543:long intergenic non-protein coding RNA 543 [Gene - HGNC]
  • LINC00544:long intergenic non-protein coding RNA 544 [Gene - HGNC]
  • LINC00545:long intergenic non-protein coding RNA 545 [Gene - HGNC]
  • LINC00547:long intergenic non-protein coding RNA 547 [Gene - HGNC]
  • LINC00566:long intergenic non-protein coding RNA 566 [Gene - HGNC]
  • LINC00572:long intergenic non-protein coding RNA 572 [Gene - HGNC]
  • LINC00621:long intergenic non-protein coding RNA 621 [Gene - HGNC]
  • LOC109580097:mab-21 like 1 repeat instability region [Gene]
  • MAB21L1:mab-21 like 1 [Gene - OMIM - HGNC]
  • MEDAG:mesenteric estrogen dependent adipogenesis [Gene - HGNC]
  • MIR2276:microRNA 2276 [Gene - HGNC]
  • MIR4499:microRNA 4499 [Gene - HGNC]
  • MTUS2:microtubule associated scaffold protein 2 [Gene - OMIM - HGNC]
  • MICU2:mitochondrial calcium uptake 2 [Gene - OMIM - HGNC]
  • MIPEP:mitochondrial intermediate peptidase [Gene - OMIM - HGNC]
  • MRPL57:mitochondrial ribosomal protein L57 [Gene - OMIM - HGNC]
  • MTIF3:mitochondrial translational initiation factor 3 [Gene - OMIM - HGNC]
  • MTMR6:myotubularin related protein 6 [Gene - OMIM - HGNC]
  • NBEA:neurobeachin [Gene - OMIM - HGNC]
  • NUP58:nucleoporin 58 [Gene - OMIM - HGNC]
  • PDX1:pancreatic and duodenal homeobox 1 [Gene - OMIM - HGNC]
  • PSPC1:paraspeckle component 1 [Gene - OMIM - HGNC]
  • POSTN:periostin [Gene - OMIM - HGNC]
  • PABPC3:poly(A) binding protein cytoplasmic 3 [Gene - OMIM - HGNC]
  • PAN3:poly(A) specific ribonuclease subunit PAN3 [Gene - OMIM - HGNC]
  • PARP4:poly(ADP-ribose) polymerase family member 4 [Gene - OMIM - HGNC]
  • PCOTH:prostate and testis expressed opposite C1QTNF9B and MIPEP [Gene - OMIM - HGNC]
  • POMP:proteasome maturation protein [Gene - OMIM - HGNC]
  • RFXAP:regulatory factor X associated protein [Gene - OMIM - HGNC]
  • RXFP2:relaxin family peptide receptor 2 [Gene - OMIM - HGNC]
  • RFC3:replication factor C subunit 3 [Gene - OMIM - HGNC]
  • RPL21:ribosomal protein L21 [Gene - OMIM - HGNC]
  • RNF17:ring finger protein 17 [Gene - OMIM - HGNC]
  • RNF6:ring finger protein 6 [Gene - OMIM - HGNC]
  • SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
  • SGCG:sarcoglycan gamma [Gene - OMIM - HGNC]
  • SERTM1:serine rich and transmembrane domain containing 1 [Gene - HGNC]
  • SHISA2:shisa family member 2 [Gene - OMIM - HGNC]
  • SNORD102:small nucleolar RNA, C/D box 102 [Gene - HGNC]
  • SNORA27:small nucleolar RNA, H/ACA box 27 [Gene - HGNC]
  • SLC46A3:solute carrier family 46 member 3 [Gene - OMIM - HGNC]
  • SLC7A1:solute carrier family 7 member 1 [Gene - OMIM - HGNC]
  • SPART:spartin [Gene - OMIM - HGNC]
  • SOHLH2:spermatogenesis and oogenesis specific basic helix-loop-helix 2 [Gene - OMIM - HGNC]
  • SPATA13:spermatogenesis associated 13 [Gene - OMIM - HGNC]
  • SKA3:spindle and kinetochore associated complex subunit 3 [Gene - OMIM - HGNC]
  • TRN-GTT2-4:tRNA-Asn (anticodon GTT) 2-4 [Gene - HGNC]
  • TEX26:testis expressed 26 [Gene - HGNC]
  • TRPC4:transient receptor potential cation channel subfamily C member 4 [Gene - OMIM - HGNC]
  • TPTE2:transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 [Gene - OMIM - HGNC]
  • TUBA3C:tubulin alpha 3c [Gene - OMIM - HGNC]
  • UBE2L5:ubiquitin conjugating enzyme E2 L5 [Gene - HGNC]
  • UBL3:ubiquitin like 3 [Gene - OMIM - HGNC]
  • USP12:ubiquitin specific peptidase 12 [Gene - OMIM - HGNC]
  • USPL1:ubiquitin specific peptidase like 1 [Gene - OMIM - HGNC]
  • LOC102723345:uncharacterized LOC102723345 [Gene]
  • LOC105370109:uncharacterized LOC105370109 [Gene]
  • LOC105370295:uncharacterized LOC105370295 [Gene]
  • LOC107984132:uncharacterized LOC107984132 [Gene]
  • URAD:ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase [Gene - OMIM - HGNC]
  • ZDHHC20:zinc finger DHHC-type palmitoyltransferase 20 [Gene - OMIM - HGNC]
  • ZMYM2:zinc finger MYM-type containing 2 [Gene - OMIM - HGNC]
  • ZMYM5:zinc finger MYM-type containing 5 [Gene - OMIM - HGNC]
  • ZAR1L:zygote arrest 1 like [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
13q11-13.3
Genomic location:
Preferred name:
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3
HGVS:
  • NC_000013.11:g.(?_18676442)_(37656039_?)dup
  • NC_000013.10:g.(?_19250582)_(38230176_?)dup
  • NC_000013.9:g.(?_18148582)_(37128176_?)dup
Links:
dbVar: nssv578638; dbVar: nsv532382
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000081084GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000081084.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Sep 1, 2024