GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 22, 2010
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000136910.5

Allele description [Variation Report for GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3]

GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3

Genes:

KDSR:3-ketodihydrosphingosine reductase [Gene - OMIM - HGNC]
LOC114803473:ALPK2 eExon liver enhancer [Gene]
LOC130062400:ATAC-STARR-seq lymphoblastoid active region 13247 [Gene]
LOC130062401:ATAC-STARR-seq lymphoblastoid active region 13248 [Gene]
LOC130062402:ATAC-STARR-seq lymphoblastoid active region 13249 [Gene]
LOC130062406:ATAC-STARR-seq lymphoblastoid active region 13250 [Gene]
LOC130062407:ATAC-STARR-seq lymphoblastoid active region 13251 [Gene]
LOC130062408:ATAC-STARR-seq lymphoblastoid active region 13252 [Gene]
LOC130062410:ATAC-STARR-seq lymphoblastoid active region 13253 [Gene]
LOC130062411:ATAC-STARR-seq lymphoblastoid active region 13254 [Gene]
LOC130062412:ATAC-STARR-seq lymphoblastoid active region 13255 [Gene]
LOC130062413:ATAC-STARR-seq lymphoblastoid active region 13256 [Gene]
LOC130062414:ATAC-STARR-seq lymphoblastoid active region 13257 [Gene]
LOC130062415:ATAC-STARR-seq lymphoblastoid active region 13258 [Gene]
LOC130062416:ATAC-STARR-seq lymphoblastoid active region 13259 [Gene]
LOC130062417:ATAC-STARR-seq lymphoblastoid active region 13260 [Gene]
LOC130062418:ATAC-STARR-seq lymphoblastoid active region 13261 [Gene]
LOC130062420:ATAC-STARR-seq lymphoblastoid active region 13262 [Gene]
LOC130062421:ATAC-STARR-seq lymphoblastoid active region 13263 [Gene]
LOC130062422:ATAC-STARR-seq lymphoblastoid active region 13264 [Gene]
LOC130062423:ATAC-STARR-seq lymphoblastoid active region 13265 [Gene]
LOC130062424:ATAC-STARR-seq lymphoblastoid active region 13266 [Gene]
LOC130062425:ATAC-STARR-seq lymphoblastoid active region 13267 [Gene]
LOC130062426:ATAC-STARR-seq lymphoblastoid active region 13268 [Gene]
LOC130062429:ATAC-STARR-seq lymphoblastoid active region 13271 [Gene]
LOC130062430:ATAC-STARR-seq lymphoblastoid active region 13272 [Gene]
LOC130062431:ATAC-STARR-seq lymphoblastoid active region 13273 [Gene]
LOC130062432:ATAC-STARR-seq lymphoblastoid active region 13274 [Gene]
LOC130062433:ATAC-STARR-seq lymphoblastoid active region 13275 [Gene]
LOC130062434:ATAC-STARR-seq lymphoblastoid active region 13276 [Gene]
LOC130062435:ATAC-STARR-seq lymphoblastoid active region 13279 [Gene]
LOC130062437:ATAC-STARR-seq lymphoblastoid active region 13281 [Gene]
LOC130062438:ATAC-STARR-seq lymphoblastoid active region 13282 [Gene]
LOC130062440:ATAC-STARR-seq lymphoblastoid active region 13284 [Gene]
LOC130062441:ATAC-STARR-seq lymphoblastoid active region 13285 [Gene]
LOC130062442:ATAC-STARR-seq lymphoblastoid active region 13286 [Gene]
LOC130062445:ATAC-STARR-seq lymphoblastoid active region 13287 [Gene]
LOC130062454:ATAC-STARR-seq lymphoblastoid active region 13288 [Gene]
LOC130062455:ATAC-STARR-seq lymphoblastoid active region 13289 [Gene]
LOC130062456:ATAC-STARR-seq lymphoblastoid active region 13290 [Gene]
LOC130062457:ATAC-STARR-seq lymphoblastoid active region 13291 [Gene]
LOC130062458:ATAC-STARR-seq lymphoblastoid active region 13292 [Gene]
LOC130062459:ATAC-STARR-seq lymphoblastoid active region 13293 [Gene]
LOC130062460:ATAC-STARR-seq lymphoblastoid active region 13295 [Gene]
LOC130062461:ATAC-STARR-seq lymphoblastoid active region 13296 [Gene]
LOC130062462:ATAC-STARR-seq lymphoblastoid active region 13297 [Gene]
LOC130062463:ATAC-STARR-seq lymphoblastoid active region 13298 [Gene]
LOC130062464:ATAC-STARR-seq lymphoblastoid active region 13299 [Gene]
LOC130062465:ATAC-STARR-seq lymphoblastoid active region 13300 [Gene]
LOC130062466:ATAC-STARR-seq lymphoblastoid active region 13301 [Gene]
LOC130062467:ATAC-STARR-seq lymphoblastoid active region 13304 [Gene]
LOC130062468:ATAC-STARR-seq lymphoblastoid active region 13305 [Gene]
LOC130062469:ATAC-STARR-seq lymphoblastoid active region 13306 [Gene]
LOC130062478:ATAC-STARR-seq lymphoblastoid active region 13307 [Gene]
LOC130062479:ATAC-STARR-seq lymphoblastoid active region 13308 [Gene]
LOC130062483:ATAC-STARR-seq lymphoblastoid active region 13309 [Gene]
LOC130062486:ATAC-STARR-seq lymphoblastoid active region 13312 [Gene]
LOC130062489:ATAC-STARR-seq lymphoblastoid active region 13313 [Gene]
LOC130062490:ATAC-STARR-seq lymphoblastoid active region 13316 [Gene]
LOC130062494:ATAC-STARR-seq lymphoblastoid active region 13317 [Gene]
LOC130062495:ATAC-STARR-seq lymphoblastoid active region 13318 [Gene]
LOC130062496:ATAC-STARR-seq lymphoblastoid active region 13319 [Gene]
LOC130062497:ATAC-STARR-seq lymphoblastoid active region 13320 [Gene]
LOC130062498:ATAC-STARR-seq lymphoblastoid active region 13322 [Gene]
LOC130062500:ATAC-STARR-seq lymphoblastoid active region 13323 [Gene]
LOC130062502:ATAC-STARR-seq lymphoblastoid active region 13324 [Gene]
LOC130062503:ATAC-STARR-seq lymphoblastoid active region 13326 [Gene]
LOC130062504:ATAC-STARR-seq lymphoblastoid active region 13327 [Gene]
LOC130062505:ATAC-STARR-seq lymphoblastoid active region 13328 [Gene]
LOC130062511:ATAC-STARR-seq lymphoblastoid active region 13330 [Gene]
LOC130062514:ATAC-STARR-seq lymphoblastoid active region 13331 [Gene]
LOC130062515:ATAC-STARR-seq lymphoblastoid active region 13332 [Gene]
LOC130062516:ATAC-STARR-seq lymphoblastoid active region 13333 [Gene]
LOC130062517:ATAC-STARR-seq lymphoblastoid active region 13335 [Gene]
LOC130062518:ATAC-STARR-seq lymphoblastoid active region 13336 [Gene]
LOC130062519:ATAC-STARR-seq lymphoblastoid active region 13337 [Gene]
LOC130062520:ATAC-STARR-seq lymphoblastoid active region 13338 [Gene]
LOC130062521:ATAC-STARR-seq lymphoblastoid active region 13340 [Gene]
LOC130062522:ATAC-STARR-seq lymphoblastoid active region 13341 [Gene]
LOC130062524:ATAC-STARR-seq lymphoblastoid active region 13342 [Gene]
LOC130062526:ATAC-STARR-seq lymphoblastoid active region 13343 [Gene]
LOC130062527:ATAC-STARR-seq lymphoblastoid active region 13344 [Gene]
LOC130062528:ATAC-STARR-seq lymphoblastoid active region 13345 [Gene]
LOC130062529:ATAC-STARR-seq lymphoblastoid active region 13346 [Gene]
LOC130062531:ATAC-STARR-seq lymphoblastoid active region 13347 [Gene]
LOC130062532:ATAC-STARR-seq lymphoblastoid active region 13348 [Gene]
LOC130062533:ATAC-STARR-seq lymphoblastoid active region 13350 [Gene]
LOC130062534:ATAC-STARR-seq lymphoblastoid active region 13351 [Gene]
LOC130062535:ATAC-STARR-seq lymphoblastoid active region 13352 [Gene]
LOC130062536:ATAC-STARR-seq lymphoblastoid active region 13353 [Gene]
LOC130062537:ATAC-STARR-seq lymphoblastoid active region 13354 [Gene]
LOC130062538:ATAC-STARR-seq lymphoblastoid active region 13355 [Gene]
LOC130062539:ATAC-STARR-seq lymphoblastoid active region 13356 [Gene]
LOC130062540:ATAC-STARR-seq lymphoblastoid active region 13357 [Gene]
LOC130062541:ATAC-STARR-seq lymphoblastoid active region 13358 [Gene]
LOC130062544:ATAC-STARR-seq lymphoblastoid active region 13360 [Gene]
LOC130062545:ATAC-STARR-seq lymphoblastoid active region 13361 [Gene]
LOC130062547:ATAC-STARR-seq lymphoblastoid active region 13362 [Gene]
LOC130062548:ATAC-STARR-seq lymphoblastoid active region 13364 [Gene]
LOC130062549:ATAC-STARR-seq lymphoblastoid active region 13365 [Gene]
LOC130062550:ATAC-STARR-seq lymphoblastoid active region 13366 [Gene]
LOC130062553:ATAC-STARR-seq lymphoblastoid active region 13369 [Gene]
LOC130062554:ATAC-STARR-seq lymphoblastoid active region 13370 [Gene]
LOC130062555:ATAC-STARR-seq lymphoblastoid active region 13371 [Gene]
LOC130062556:ATAC-STARR-seq lymphoblastoid active region 13372 [Gene]
LOC130062557:ATAC-STARR-seq lymphoblastoid active region 13373 [Gene]
LOC130062561:ATAC-STARR-seq lymphoblastoid active region 13375 [Gene]
LOC130062562:ATAC-STARR-seq lymphoblastoid active region 13377 [Gene]
LOC130062563:ATAC-STARR-seq lymphoblastoid active region 13378 [Gene]
LOC130062564:ATAC-STARR-seq lymphoblastoid active region 13379 [Gene]
LOC130062565:ATAC-STARR-seq lymphoblastoid active region 13380 [Gene]
LOC130062566:ATAC-STARR-seq lymphoblastoid active region 13381 [Gene]
LOC130062569:ATAC-STARR-seq lymphoblastoid active region 13382 [Gene]
LOC130062570:ATAC-STARR-seq lymphoblastoid active region 13383 [Gene]
LOC130062571:ATAC-STARR-seq lymphoblastoid active region 13384 [Gene]
LOC130062572:ATAC-STARR-seq lymphoblastoid active region 13385 [Gene]
LOC130062573:ATAC-STARR-seq lymphoblastoid active region 13386 [Gene]
LOC130062574:ATAC-STARR-seq lymphoblastoid active region 13387 [Gene]
LOC130062575:ATAC-STARR-seq lymphoblastoid active region 13388 [Gene]
LOC130062577:ATAC-STARR-seq lymphoblastoid active region 13389 [Gene]
LOC130062578:ATAC-STARR-seq lymphoblastoid active region 13390 [Gene]
LOC130062579:ATAC-STARR-seq lymphoblastoid active region 13394 [Gene]
LOC130062580:ATAC-STARR-seq lymphoblastoid active region 13395 [Gene]
LOC130062581:ATAC-STARR-seq lymphoblastoid active region 13396 [Gene]
LOC130062582:ATAC-STARR-seq lymphoblastoid active region 13397 [Gene]
LOC130062583:ATAC-STARR-seq lymphoblastoid active region 13398 [Gene]
LOC130062584:ATAC-STARR-seq lymphoblastoid active region 13399 [Gene]
LOC130062585:ATAC-STARR-seq lymphoblastoid active region 13400 [Gene]
LOC130062587:ATAC-STARR-seq lymphoblastoid active region 13401 [Gene]
LOC130062588:ATAC-STARR-seq lymphoblastoid active region 13402 [Gene]
LOC130062590:ATAC-STARR-seq lymphoblastoid active region 13403 [Gene]
LOC130062592:ATAC-STARR-seq lymphoblastoid active region 13406 [Gene]
LOC130062593:ATAC-STARR-seq lymphoblastoid active region 13407 [Gene]
LOC130062595:ATAC-STARR-seq lymphoblastoid active region 13408 [Gene]
LOC130062596:ATAC-STARR-seq lymphoblastoid active region 13409 [Gene]
LOC130062598:ATAC-STARR-seq lymphoblastoid active region 13410 [Gene]
LOC130062599:ATAC-STARR-seq lymphoblastoid active region 13411 [Gene]
LOC130062600:ATAC-STARR-seq lymphoblastoid active region 13412 [Gene]
LOC130062605:ATAC-STARR-seq lymphoblastoid active region 13413 [Gene]
LOC130062606:ATAC-STARR-seq lymphoblastoid active region 13414 [Gene]
LOC130062607:ATAC-STARR-seq lymphoblastoid active region 13415 [Gene]
LOC130062609:ATAC-STARR-seq lymphoblastoid active region 13416 [Gene]
LOC130062610:ATAC-STARR-seq lymphoblastoid active region 13419 [Gene]
LOC130062611:ATAC-STARR-seq lymphoblastoid active region 13420 [Gene]
LOC130062612:ATAC-STARR-seq lymphoblastoid active region 13421 [Gene]
LOC130062614:ATAC-STARR-seq lymphoblastoid active region 13422 [Gene]
LOC130062615:ATAC-STARR-seq lymphoblastoid active region 13423 [Gene]
LOC130062616:ATAC-STARR-seq lymphoblastoid active region 13424 [Gene]
LOC130062617:ATAC-STARR-seq lymphoblastoid active region 13425 [Gene]
LOC130062618:ATAC-STARR-seq lymphoblastoid active region 13426 [Gene]
LOC130062619:ATAC-STARR-seq lymphoblastoid active region 13427 [Gene]
LOC130062620:ATAC-STARR-seq lymphoblastoid active region 13428 [Gene]
LOC130062624:ATAC-STARR-seq lymphoblastoid active region 13429 [Gene]
LOC130062630:ATAC-STARR-seq lymphoblastoid active region 13430 [Gene]
LOC130062632:ATAC-STARR-seq lymphoblastoid active region 13431 [Gene]
LOC130062640:ATAC-STARR-seq lymphoblastoid active region 13432 [Gene]
LOC130062641:ATAC-STARR-seq lymphoblastoid active region 13434 [Gene]
LOC130062643:ATAC-STARR-seq lymphoblastoid active region 13435 [Gene]
LOC130062644:ATAC-STARR-seq lymphoblastoid active region 13436 [Gene]
LOC130062647:ATAC-STARR-seq lymphoblastoid active region 13437 [Gene]
LOC130062649:ATAC-STARR-seq lymphoblastoid active region 13438 [Gene]
LOC130062650:ATAC-STARR-seq lymphoblastoid active region 13439 [Gene]
LOC130062651:ATAC-STARR-seq lymphoblastoid active region 13440 [Gene]
LOC130062652:ATAC-STARR-seq lymphoblastoid active region 13441 [Gene]
LOC130062653:ATAC-STARR-seq lymphoblastoid active region 13442 [Gene]
LOC130062654:ATAC-STARR-seq lymphoblastoid active region 13443 [Gene]
LOC130062655:ATAC-STARR-seq lymphoblastoid active region 13444 [Gene]
LOC130062656:ATAC-STARR-seq lymphoblastoid active region 13445 [Gene]
LOC130062657:ATAC-STARR-seq lymphoblastoid active region 13446 [Gene]
LOC130062658:ATAC-STARR-seq lymphoblastoid active region 13448 [Gene]
LOC130062659:ATAC-STARR-seq lymphoblastoid active region 13449 [Gene]
LOC130062660:ATAC-STARR-seq lymphoblastoid active region 13450 [Gene]
LOC130062661:ATAC-STARR-seq lymphoblastoid active region 13451 [Gene]
LOC130062662:ATAC-STARR-seq lymphoblastoid active region 13452 [Gene]
LOC130062663:ATAC-STARR-seq lymphoblastoid active region 13453 [Gene]
LOC130062664:ATAC-STARR-seq lymphoblastoid active region 13454 [Gene]
LOC130062665:ATAC-STARR-seq lymphoblastoid active region 13455 [Gene]
LOC130062666:ATAC-STARR-seq lymphoblastoid active region 13456 [Gene]
LOC130062667:ATAC-STARR-seq lymphoblastoid active region 13457 [Gene]
LOC130062668:ATAC-STARR-seq lymphoblastoid active region 13458 [Gene]
LOC130062669:ATAC-STARR-seq lymphoblastoid active region 13459 [Gene]
LOC130062670:ATAC-STARR-seq lymphoblastoid active region 13460 [Gene]
LOC130062671:ATAC-STARR-seq lymphoblastoid active region 13461 [Gene]
LOC130062672:ATAC-STARR-seq lymphoblastoid active region 13462 [Gene]
LOC130062673:ATAC-STARR-seq lymphoblastoid active region 13463 [Gene]
LOC130062674:ATAC-STARR-seq lymphoblastoid active region 13465 [Gene]
LOC130062675:ATAC-STARR-seq lymphoblastoid active region 13466 [Gene]
LOC130062680:ATAC-STARR-seq lymphoblastoid active region 13467 [Gene]
LOC130062681:ATAC-STARR-seq lymphoblastoid active region 13468 [Gene]
LOC130062683:ATAC-STARR-seq lymphoblastoid active region 13469 [Gene]
LOC130062685:ATAC-STARR-seq lymphoblastoid active region 13470 [Gene]
LOC130062686:ATAC-STARR-seq lymphoblastoid active region 13471 [Gene]
LOC130062687:ATAC-STARR-seq lymphoblastoid active region 13472 [Gene]
LOC130062399:ATAC-STARR-seq lymphoblastoid silent region 9410 [Gene]
LOC130062403:ATAC-STARR-seq lymphoblastoid silent region 9411 [Gene]
LOC130062404:ATAC-STARR-seq lymphoblastoid silent region 9412 [Gene]
LOC130062405:ATAC-STARR-seq lymphoblastoid silent region 9413 [Gene]
LOC130062409:ATAC-STARR-seq lymphoblastoid silent region 9414 [Gene]
LOC130062419:ATAC-STARR-seq lymphoblastoid silent region 9415 [Gene]
LOC130062427:ATAC-STARR-seq lymphoblastoid silent region 9416 [Gene]
LOC130062428:ATAC-STARR-seq lymphoblastoid silent region 9419 [Gene]
LOC130062436:ATAC-STARR-seq lymphoblastoid silent region 9420 [Gene]
LOC130062439:ATAC-STARR-seq lymphoblastoid silent region 9423 [Gene]
LOC130062443:ATAC-STARR-seq lymphoblastoid silent region 9425 [Gene]
LOC130062444:ATAC-STARR-seq lymphoblastoid silent region 9426 [Gene]
LOC130062446:ATAC-STARR-seq lymphoblastoid silent region 9427 [Gene]
LOC130062447:ATAC-STARR-seq lymphoblastoid silent region 9428 [Gene]
LOC130062448:ATAC-STARR-seq lymphoblastoid silent region 9431 [Gene]
LOC130062449:ATAC-STARR-seq lymphoblastoid silent region 9432 [Gene]
LOC130062450:ATAC-STARR-seq lymphoblastoid silent region 9433 [Gene]
LOC130062451:ATAC-STARR-seq lymphoblastoid silent region 9434 [Gene]
LOC130062452:ATAC-STARR-seq lymphoblastoid silent region 9435 [Gene]
LOC130062453:ATAC-STARR-seq lymphoblastoid silent region 9436 [Gene]
LOC130062470:ATAC-STARR-seq lymphoblastoid silent region 9439 [Gene]
LOC130062471:ATAC-STARR-seq lymphoblastoid silent region 9440 [Gene]
LOC130062472:ATAC-STARR-seq lymphoblastoid silent region 9441 [Gene]
LOC130062473:ATAC-STARR-seq lymphoblastoid silent region 9442 [Gene]
LOC130062474:ATAC-STARR-seq lymphoblastoid silent region 9443 [Gene]
LOC130062475:ATAC-STARR-seq lymphoblastoid silent region 9444 [Gene]
LOC130062476:ATAC-STARR-seq lymphoblastoid silent region 9445 [Gene]
LOC130062477:ATAC-STARR-seq lymphoblastoid silent region 9446 [Gene]
LOC130062480:ATAC-STARR-seq lymphoblastoid silent region 9447 [Gene]
LOC130062481:ATAC-STARR-seq lymphoblastoid silent region 9448 [Gene]
LOC130062482:ATAC-STARR-seq lymphoblastoid silent region 9449 [Gene]
LOC130062484:ATAC-STARR-seq lymphoblastoid silent region 9451 [Gene]
LOC130062485:ATAC-STARR-seq lymphoblastoid silent region 9452 [Gene]
LOC130062487:ATAC-STARR-seq lymphoblastoid silent region 9453 [Gene]
LOC130062488:ATAC-STARR-seq lymphoblastoid silent region 9454 [Gene]
LOC130062491:ATAC-STARR-seq lymphoblastoid silent region 9455 [Gene]
LOC130062492:ATAC-STARR-seq lymphoblastoid silent region 9456 [Gene]
LOC130062493:ATAC-STARR-seq lymphoblastoid silent region 9457 [Gene]
LOC130062499:ATAC-STARR-seq lymphoblastoid silent region 9459 [Gene]
LOC130062501:ATAC-STARR-seq lymphoblastoid silent region 9460 [Gene]
LOC130062506:ATAC-STARR-seq lymphoblastoid silent region 9463 [Gene]
LOC130062507:ATAC-STARR-seq lymphoblastoid silent region 9464 [Gene]
LOC130062508:ATAC-STARR-seq lymphoblastoid silent region 9465 [Gene]
LOC130062509:ATAC-STARR-seq lymphoblastoid silent region 9466 [Gene]
LOC130062510:ATAC-STARR-seq lymphoblastoid silent region 9467 [Gene]
LOC130062512:ATAC-STARR-seq lymphoblastoid silent region 9468 [Gene]
LOC130062513:ATAC-STARR-seq lymphoblastoid silent region 9469 [Gene]
LOC130062523:ATAC-STARR-seq lymphoblastoid silent region 9470 [Gene]
LOC130062525:ATAC-STARR-seq lymphoblastoid silent region 9471 [Gene]
LOC130062530:ATAC-STARR-seq lymphoblastoid silent region 9472 [Gene]
LOC130062542:ATAC-STARR-seq lymphoblastoid silent region 9473 [Gene]
LOC130062543:ATAC-STARR-seq lymphoblastoid silent region 9474 [Gene]
LOC130062546:ATAC-STARR-seq lymphoblastoid silent region 9475 [Gene]
LOC130062551:ATAC-STARR-seq lymphoblastoid silent region 9477 [Gene]
LOC130062552:ATAC-STARR-seq lymphoblastoid silent region 9478 [Gene]
LOC130062558:ATAC-STARR-seq lymphoblastoid silent region 9479 [Gene]
LOC130062559:ATAC-STARR-seq lymphoblastoid silent region 9480 [Gene]
LOC130062560:ATAC-STARR-seq lymphoblastoid silent region 9481 [Gene]
LOC130062567:ATAC-STARR-seq lymphoblastoid silent region 9482 [Gene]
LOC130062568:ATAC-STARR-seq lymphoblastoid silent region 9483 [Gene]
LOC130062576:ATAC-STARR-seq lymphoblastoid silent region 9486 [Gene]
LOC130062586:ATAC-STARR-seq lymphoblastoid silent region 9487 [Gene]
LOC130062589:ATAC-STARR-seq lymphoblastoid silent region 9488 [Gene]
LOC130062591:ATAC-STARR-seq lymphoblastoid silent region 9489 [Gene]
LOC130062594:ATAC-STARR-seq lymphoblastoid silent region 9490 [Gene]
LOC130062597:ATAC-STARR-seq lymphoblastoid silent region 9491 [Gene]
LOC130062601:ATAC-STARR-seq lymphoblastoid silent region 9492 [Gene]
LOC130062602:ATAC-STARR-seq lymphoblastoid silent region 9493 [Gene]
LOC130062603:ATAC-STARR-seq lymphoblastoid silent region 9494 [Gene]
LOC130062604:ATAC-STARR-seq lymphoblastoid silent region 9495 [Gene]
LOC130062608:ATAC-STARR-seq lymphoblastoid silent region 9496 [Gene]
LOC130062613:ATAC-STARR-seq lymphoblastoid silent region 9498 [Gene]
LOC130062621:ATAC-STARR-seq lymphoblastoid silent region 9499 [Gene]
LOC130062622:ATAC-STARR-seq lymphoblastoid silent region 9500 [Gene]
LOC130062623:ATAC-STARR-seq lymphoblastoid silent region 9501 [Gene]
LOC130062625:ATAC-STARR-seq lymphoblastoid silent region 9502 [Gene]
LOC130062626:ATAC-STARR-seq lymphoblastoid silent region 9503 [Gene]
LOC130062627:ATAC-STARR-seq lymphoblastoid silent region 9504 [Gene]
LOC130062628:ATAC-STARR-seq lymphoblastoid silent region 9505 [Gene]
LOC130062629:ATAC-STARR-seq lymphoblastoid silent region 9506 [Gene]
LOC130062631:ATAC-STARR-seq lymphoblastoid silent region 9507 [Gene]
LOC130062633:ATAC-STARR-seq lymphoblastoid silent region 9508 [Gene]
LOC130062634:ATAC-STARR-seq lymphoblastoid silent region 9509 [Gene]
LOC130062635:ATAC-STARR-seq lymphoblastoid silent region 9510 [Gene]
LOC130062636:ATAC-STARR-seq lymphoblastoid silent region 9511 [Gene]
LOC130062637:ATAC-STARR-seq lymphoblastoid silent region 9512 [Gene]
LOC130062638:ATAC-STARR-seq lymphoblastoid silent region 9513 [Gene]
LOC130062639:ATAC-STARR-seq lymphoblastoid silent region 9514 [Gene]
LOC130062642:ATAC-STARR-seq lymphoblastoid silent region 9515 [Gene]
LOC130062645:ATAC-STARR-seq lymphoblastoid silent region 9516 [Gene]
LOC130062646:ATAC-STARR-seq lymphoblastoid silent region 9520 [Gene]
LOC130062648:ATAC-STARR-seq lymphoblastoid silent region 9521 [Gene]
LOC130062676:ATAC-STARR-seq lymphoblastoid silent region 9522 [Gene]
LOC130062677:ATAC-STARR-seq lymphoblastoid silent region 9523 [Gene]
LOC130062678:ATAC-STARR-seq lymphoblastoid silent region 9524 [Gene]
LOC130062679:ATAC-STARR-seq lymphoblastoid silent region 9525 [Gene]
LOC130062682:ATAC-STARR-seq lymphoblastoid silent region 9530 [Gene]
LOC130062684:ATAC-STARR-seq lymphoblastoid silent region 9531 [Gene]
LOC130062688:ATAC-STARR-seq lymphoblastoid silent region 9532 [Gene]
ATP5F1A:ATP synthase F1 subunit alpha [Gene - OMIM - HGNC]
ATP8B1-AS1:ATP8B1 antisense RNA 1 [Gene - HGNC]
ATP8B1:ATPase phospholipid transporting 8B1 [Gene - OMIM - HGNC]
BCL2:BCL2 apoptosis regulator [Gene - OMIM - HGNC]
LOC126862731:BRD4-independent group 4 enhancer GRCh37_chr18:37825467-37826666 [Gene]
LOC126862736:BRD4-independent group 4 enhancer GRCh37_chr18:43478156-43479355 [Gene]
LOC126862738:BRD4-independent group 4 enhancer GRCh37_chr18:43677662-43678861 [Gene]
LOC126862752:BRD4-independent group 4 enhancer GRCh37_chr18:51037281-51038480 [Gene]
LOC126862753:BRD4-independent group 4 enhancer GRCh37_chr18:51309208-51310407 [Gene]
LOC126862756:BRD4-independent group 4 enhancer GRCh37_chr18:52673697-52674896 [Gene]
LOC126862764:BRD4-independent group 4 enhancer GRCh37_chr18:56202574-56203773 [Gene]
LOC126862765:BRD4-independent group 4 enhancer GRCh37_chr18:56650842-56652041 [Gene]
LOC126862766:BRD4-independent group 4 enhancer GRCh37_chr18:56729547-56730746 [Gene]
LOC126862769:BRD4-independent group 4 enhancer GRCh37_chr18:59328486-59329685 [Gene]
LOC126862770:BRD4-independent group 4 enhancer GRCh37_chr18:60609220-60610419 [Gene]
LOC126862771:BRD4-independent group 4 enhancer GRCh37_chr18:61094350-61095549 [Gene]
LOC126862772:BRD4-independent group 4 enhancer GRCh37_chr18:61134418-61135617 [Gene]
LOC126862774:BRD4-independent group 4 enhancer GRCh37_chr18:61255863-61257062 [Gene]
LOC126862777:BRD4-independent group 4 enhancer GRCh37_chr18:61536385-61537584 [Gene]
LOC126862779:BRD4-independent group 4 enhancer GRCh37_chr18:62338452-62339651 [Gene]
LOC126862780:BRD4-independent group 4 enhancer GRCh37_chr18:63231174-63232373 [Gene]
LOC126862733:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:41921090-41922289 [Gene]
LOC126862742:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47076971-47078170 [Gene]
LOC126862744:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47249700-47250899 [Gene]
LOC126862746:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47405587-47406786 [Gene]
LOC126862747:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47626164-47627363 [Gene]
LOC126862748:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47653727-47654926 [Gene]
LOC126862757:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:52936433-52937632 [Gene]
LOC126862760:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:54877070-54878269 [Gene]
LOC126862761:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:55360919-55362118 [Gene]
LOC126862763:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:55982687-55983886 [Gene]
LOC126862773:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:61142940-61144139 [Gene]
LOC126862776:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:61326051-61327250 [Gene]
LOC116276490:CRISPRi-validated cis-regulatory element chr18.1136 [Gene]
LOC116276491:CRISPRi-validated cis-regulatory element chr18.1280 [Gene]
CXXC1:CXXC finger protein 1 [Gene - OMIM - HGNC]
DCC:DCC netrin 1 receptor [Gene - OMIM - HGNC]
POLI:DNA polymerase iota [Gene - OMIM - HGNC]
DYM-AS1:DYM antisense RNA 1 [Gene - HGNC]
LOC111365201:FOXA motif-containing MPRA enhancer 78 [Gene]
HAUS1:HAUS augmin like complex subunit 1 [Gene - OMIM - HGNC]
KDSR-DT:KDSR divergent transcript [Gene - HGNC]
MALT1-AS1:MALT1 antisense RNA 1 [Gene - HGNC]
MALT1:MALT1 paracaspase [Gene - OMIM - HGNC]
LOC126862732:MED14-independent group 3 enhancer GRCh37_chr18:41065893-41067092 [Gene]
LOC126862734:MED14-independent group 3 enhancer GRCh37_chr18:42313178-42314377 [Gene]
LOC126862739:MED14-independent group 3 enhancer GRCh37_chr18:44447848-44449047 [Gene]
LOC126862745:MED14-independent group 3 enhancer GRCh37_chr18:47375491-47376690 [Gene]
LOC126862750:MED14-independent group 3 enhancer GRCh37_chr18:48952779-48953978 [Gene]
LOC126862751:MED14-independent group 3 enhancer GRCh37_chr18:50162292-50163491 [Gene]
LOC126862755:MED14-independent group 3 enhancer GRCh37_chr18:52642293-52643492 [Gene]
LOC126862767:MED14-independent group 3 enhancer GRCh37_chr18:56855703-56856902 [Gene]
LOC126862775:MED14-independent group 3 enhancer GRCh37_chr18:61308020-61309219 [Gene]
LOC126862778:MED14-independent group 3 enhancer GRCh37_chr18:62289597-62290796 [Gene]
MIR122HG:MIR122 host gene [Gene - HGNC]
MIR4527HG:MIR4527 host gene [Gene - HGNC]
MIR924HG:MIR924 host gene [Gene - HGNC]
LOC129390988:MPRA-validated peak3126 silencer [Gene]
LOC129390989:MPRA-validated peak3131 silencer [Gene]
LOC129390990:MPRA-validated peak3132 silencer [Gene]
LOC129390991:MPRA-validated peak3133 silencer [Gene]
LOC129390992:MPRA-validated peak3137 silencer [Gene]
LOC129390993:MPRA-validated peak3140 silencer [Gene]
LOC129390994:MPRA-validated peak3145 silencer [Gene]
LOC129390995:MPRA-validated peak3150 silencer [Gene]
LOC129390996:MPRA-validated peak3151 silencer [Gene]
LOC129390997:MPRA-validated peak3156 silencer [Gene]
LOC129390998:MPRA-validated peak3163 silencer [Gene]
LOC129390999:MPRA-validated peak3164 silencer [Gene]
LOC129391000:MPRA-validated peak3165 silencer [Gene]
LOC129391001:MPRA-validated peak3167 silencer [Gene]
LOC129391002:MPRA-validated peak3170 silencer [Gene]
LOC129391003:MPRA-validated peak3174 silencer [Gene]
NEDD4L:NEDD4 like E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
LOC132090490:Neanderthal introgressed variant-containing enhancer experimental_47967 [Gene]
LOC132090491:Neanderthal introgressed variant-containing enhancer experimental_48020 [Gene]
LOC132090492:Neanderthal introgressed variant-containing enhancer experimental_48219 [Gene]
LOC132090493:Neanderthal introgressed variant-containing enhancer experimental_48245 [Gene]
LOC132090494:Neanderthal introgressed variant-containing enhancer experimental_48468 [Gene]
LOC132090495:Neanderthal introgressed variant-containing enhancer experimental_48472 [Gene]
LOC132090496:Neanderthal introgressed variant-containing enhancer experimental_48670 [Gene]
LOC132090497:Neanderthal introgressed variant-containing enhancer experimental_48690 [Gene]
LOC132090899:Neanderthal introgressed variant-containing enhancer experimental_48726/48728 [Gene]
LOC132090498:Neanderthal introgressed variant-containing enhancer experimental_48738 [Gene]
LOC132090499:Neanderthal introgressed variant-containing enhancer experimental_48746 [Gene]
LOC132090500:Neanderthal introgressed variant-containing enhancer experimental_48887 [Gene]
LOC132090501:Neanderthal introgressed variant-containing enhancer experimental_48897 [Gene]
LOC132090502:Neanderthal introgressed variant-containing enhancer experimental_49001 [Gene]
LOC132090503:Neanderthal introgressed variant-containing enhancer experimental_49008 [Gene]
LOC132090504:Neanderthal introgressed variant-containing enhancer experimental_49084 [Gene]
LOC132090505:Neanderthal introgressed variant-containing enhancer experimental_49136 [Gene]
LOC132211113:Neanderthal introgressed variant-containing enhancers experimental_48194 and experimental_48198 [Gene]
LOC126862729:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:36520353-36521552 [Gene]
LOC126862730:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:37700693-37701892 [Gene]
LOC126862735:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:42982182-42983381 [Gene]
LOC126862737:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:43530707-43531906 [Gene]
LOC126862740:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:45529319-45530518 [Gene]
LOC126862741:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:46468263-46469462 [Gene]
LOC126862743:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:47135425-47136624 [Gene]
LOC126862749:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:47766185-47767384 [Gene]
LOC126862754:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:52635171-52636370 [Gene]
LOC126862758:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:53420614-53421813 [Gene]
LOC126862759:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:53500200-53501399 [Gene]
LOC126862762:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:55443057-55444256 [Gene]
LOC126862768:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:59273512-59274711 [Gene]
PHLPP1:PH domain and leucine rich repeat protein phosphatase 1 [Gene - OMIM - HGNC]
RELCH:RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing [Gene - OMIM - HGNC]
RAB27B:RAB27B, member RAS oncogene family [Gene - OMIM - HGNC]
RPL17-C18orf32:RPL17-C18orf32 readthrough [Gene - HGNC]
RIT2:Ras like without CAAX 2 [Gene - OMIM - HGNC]
SEC11C:SEC11 homolog C, signal peptidase complex subunit [Gene - HGNC]
SETBP1:SET binding protein 1 [Gene - OMIM - HGNC]
SETBP1-DT:SETBP1 divergent transcript [Gene - HGNC]
SKOR2:SKI family transcriptional corepressor 2 [Gene - OMIM - HGNC]
SLC14A2-AS1:SLC14A2 antisense RNA 1 [Gene - HGNC]
SMAD2:SMAD family member 2 [Gene - OMIM - HGNC]
SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]
SMAD7:SMAD family member 7 [Gene - OMIM - HGNC]
ST8SIA3:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 [Gene - OMIM - HGNC]
ST8SIA5:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 [Gene - OMIM - HGNC]
LOC112543428:Sharpr-MPRA regulatory region 10710 [Gene]
LOC112543424:Sharpr-MPRA regulatory region 10800 [Gene]
LOC125371413:Sharpr-MPRA regulatory region 1203 [Gene]
LOC125371421:Sharpr-MPRA regulatory region 125 [Gene]
LOC125371436:Sharpr-MPRA regulatory region 1275 [Gene]
LOC112543426:Sharpr-MPRA regulatory region 12870 [Gene]
LOC125371427:Sharpr-MPRA regulatory region 1296 [Gene]
LOC125371428:Sharpr-MPRA regulatory region 13131 [Gene]
LOC125371437:Sharpr-MPRA regulatory region 13227 [Gene]
LOC121627835:Sharpr-MPRA regulatory region 13815 [Gene]
LOC125371424:Sharpr-MPRA regulatory region 14135 [Gene]
LOC125371426:Sharpr-MPRA regulatory region 14713 [Gene]
LOC121627831:Sharpr-MPRA regulatory region 14779 [Gene]
LOC125371412:Sharpr-MPRA regulatory region 15026 [Gene]
LOC125371435:Sharpr-MPRA regulatory region 15585 [Gene]
LOC125371432:Sharpr-MPRA regulatory region 1890 [Gene]
LOC125371410:Sharpr-MPRA regulatory region 1896 [Gene]
LOC125371417:Sharpr-MPRA regulatory region 2051 [Gene]
LOC125371418:Sharpr-MPRA regulatory region 3103 [Gene]
LOC121852968:Sharpr-MPRA regulatory region 3246 [Gene]
LOC121852969:Sharpr-MPRA regulatory region 3490 [Gene]
LOC121627830:Sharpr-MPRA regulatory region 3693 [Gene]
LOC112543430:Sharpr-MPRA regulatory region 4133 [Gene]
LOC125371419:Sharpr-MPRA regulatory region 4563 [Gene]
LOC121627833:Sharpr-MPRA regulatory region 4588 [Gene]
LOC125371431:Sharpr-MPRA regulatory region 466 [Gene]
LOC112543429:Sharpr-MPRA regulatory region 4888 [Gene]
LOC112543427:Sharpr-MPRA regulatory region 5267 [Gene]
LOC125371429:Sharpr-MPRA regulatory region 539 [Gene]
LOC112543425:Sharpr-MPRA regulatory region 5458 [Gene]
LOC121627832:Sharpr-MPRA regulatory region 5538 [Gene]
LOC125371434:Sharpr-MPRA regulatory region 560 [Gene]
LOC125371425:Sharpr-MPRA regulatory region 5858 [Gene]
LOC113939965:Sharpr-MPRA regulatory region 7262 [Gene]
LOC125371416:Sharpr-MPRA regulatory region 7610 [Gene]
LOC121627834:Sharpr-MPRA regulatory region 7810 [Gene]
LOC125371420:Sharpr-MPRA regulatory region 8611 [Gene]
LOC125371430:Sharpr-MPRA regulatory region 8690 [Gene]
LOC125371411:Sharpr-MPRA regulatory region 9153 [Gene]
LOC125371433:Sharpr-MPRA regulatory region 9182 [Gene]
LOC125371414:Sharpr-MPRA regulatory region 9251 [Gene]
LOC121852967:Sharpr-MPRA regulatory region 937 [Gene]
LOC112543432:Sharpr-MPRA regulatory region 9998 [Gene]
STARD6:StAR related lipid transfer domain containing 6 [Gene - OMIM - HGNC]
TCF4-AS1:TCF4 antisense RNA 1 [Gene - HGNC]
TNFRSF11A:TNF receptor superfamily member 11a [Gene - OMIM - HGNC]
LOC110121313:VISTA enhancer hs1013 [Gene]
LOC110121352:VISTA enhancer hs1362 [Gene]
LOC110121353:VISTA enhancer hs1363 [Gene]
LOC110121357:VISTA enhancer hs1384 [Gene]
LOC110121361:VISTA enhancer hs1397 [Gene]
LOC110121367:VISTA enhancer hs1440 [Gene]
LOC110121371:VISTA enhancer hs1464 [Gene]
LOC110121390:VISTA enhancer hs1537 [Gene]
LOC110121438:VISTA enhancer hs1726 [Gene]
LOC114827854:VISTA enhancer hs2335 [Gene]
LOC114827855:VISTA enhancer hs2336 [Gene]
LOC110120867:VISTA enhancer hs376 [Gene]
LOC110120920:VISTA enhancer hs679 [Gene]
LOC110120940:VISTA enhancer hs851 [Gene]
LOC110120953:VISTA enhancer hs947 [Gene]
LOC108281158:VPS4B-SERPINB5 intergenic CAGE-defined mid-level expression enhancer [Gene]
WDR7:WD repeat domain 7 [Gene - OMIM - HGNC]
WDR7-OT1:WDR7 overlapping transcript 1 [Gene - HGNC]
ZBTB7C-AS2:ZBTB7C antisense RNA 2 [Gene - HGNC]
ACAA2:acetyl-CoA acyltransferase 2 [Gene - OMIM - HGNC]
ALPK2:alpha kinase 2 [Gene - OMIM - HGNC]
ARK2C:arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C [Gene - HGNC]
ARK2N:arkadia (RNF111) N-terminal like PKA signaling regulator 2N [Gene - HGNC]
NARS1:asparaginyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
BOD1L2:biorientation of chromosomes in cell division 1 like 2 [Gene - HGNC]
CDH20:cadherin 20 [Gene - OMIM - HGNC]
CTIF:cap binding complex dependent translation initiation factor [Gene - OMIM - HGNC]
C18orf32:chromosome 18 open reading frame 32 [Gene - OMIM - HGNC]
C18orf54:chromosome 18 open reading frame 54 [Gene - OMIM - HGNC]
CFAP53:cilia and flagella associated protein 53 [Gene - OMIM - HGNC]
CCDC68:coiled-coil domain containing 68 [Gene - OMIM - HGNC]
CCBE1:collagen and calcium binding EGF domains 1 [Gene - OMIM - HGNC]
CPLX4:complexin 4 [Gene - OMIM - HGNC]
DYM:dymeclin [Gene - OMIM - HGNC]
DYNAP:dynactin associated protein [Gene - OMIM - HGNC]
EPG5:ectopic P-granules 5 autophagy tethering factor [Gene - OMIM - HGNC]
ELAC1:elaC ribonuclease Z 1 [Gene - OMIM - HGNC]
ELOA2:elongin A2 [Gene - OMIM - HGNC]
FECH:ferrochelatase [Gene - OMIM - HGNC]
GRP:gastrin releasing peptide [Gene - OMIM - HGNC]
HDHD2:haloacid dehalogenase like hydrolase domain containing 2 [Gene - HGNC]
HMSD:histocompatibility minor serpin domain containing [Gene - OMIM - HGNC]
IER3IP1:immediate early response 3 interacting protein 1 [Gene - OMIM - HGNC]
KATNAL2:katanin catalytic subunit A1 like 2 [Gene - OMIM - HGNC]
KC6:keratoconus gene 6 [Gene]
LMAN1:lectin, mannose binding 1 [Gene - OMIM - HGNC]
LIPG:lipase G, endothelial type [Gene - OMIM - HGNC]
LOXHD1:lipoxygenase homology PLAT domains 1 [Gene - OMIM - HGNC]
LINC01415:long intergenic non-protein coding RNA 1415 [Gene - HGNC]
LINC01416:long intergenic non-protein coding RNA 1416 [Gene - HGNC]
LINC01477:long intergenic non-protein coding RNA 1477 [Gene - HGNC]
LINC01478:long intergenic non-protein coding RNA 1478 [Gene - HGNC]
LINC01538:long intergenic non-protein coding RNA 1538 [Gene - HGNC]
LINC01539:long intergenic non-protein coding RNA 1539 [Gene - HGNC]
LINC01544:long intergenic non-protein coding RNA 1544 [Gene - HGNC]
LINC01601:long intergenic non-protein coding RNA 1601 [Gene - HGNC]
LINC01630:long intergenic non-protein coding RNA 1630 [Gene - HGNC]
LINC01897:long intergenic non-protein coding RNA 1897 [Gene - HGNC]
LINC01901:long intergenic non-protein coding RNA 1901 [Gene - HGNC]
LINC01902:long intergenic non-protein coding RNA 1902 [Gene - HGNC]
LINC01905:long intergenic non-protein coding RNA 1905 [Gene - HGNC]
LINC01917:long intergenic non-protein coding RNA 1917 [Gene - HGNC]
LINC01919:long intergenic non-protein coding RNA 1919 [Gene - HGNC]
LINC01924:long intergenic non-protein coding RNA 1924 [Gene - HGNC]
LINC01926:long intergenic non-protein coding RNA 1926 [Gene - HGNC]
LINC01929:long intergenic non-protein coding RNA 1929 [Gene - HGNC]
LINC02565:long intergenic non-protein coding RNA 2565 [Gene - HGNC]
LINC02837:long intergenic non-protein coding RNA 2837 [Gene - HGNC]
LINC00305:long intergenic non-protein coding RNA 305 [Gene - OMIM - HGNC]
LINC03069:long intergenic non-protein coding RNA 3069 [Gene - HGNC]
LINC03110:long intergenic non-protein coding RNA 3110 [Gene - HGNC]
LINC03111:long intergenic non-protein coding RNA 3111 [Gene - HGNC]
LINC00907:long intergenic non-protein coding RNA 907 [Gene - HGNC]
LINC-ROR:long intergenic non-protein coding RNA, regulator of reprogramming [Gene - OMIM - HGNC]
MRO:maestro [Gene - OMIM - HGNC]
ME2:malic enzyme 2 [Gene - OMIM - HGNC]
LOC107457587:meiotic recombination hotspot L [Gene]
LOC107457597:meiotic recombination hotspot N [Gene]
MC4R:melanocortin 4 receptor [Gene - OMIM - HGNC]
MBD1:methyl-CpG binding domain protein 1 [Gene - OMIM - HGNC]
MBD2:methyl-CpG binding domain protein 2 [Gene - OMIM - HGNC]
MEX3C:mex-3 RNA binding family member C [Gene - OMIM - HGNC]
MIR122:microRNA 122 [Gene - OMIM - HGNC]
MIR1539:microRNA 1539 [Gene - HGNC]
MIR3591:microRNA 3591 [Gene - HGNC]
MIR4319:microRNA 4319 [Gene - HGNC]
MIR4320:microRNA 4320 [Gene - HGNC]
MIR4527:microRNA 4527 [Gene - HGNC]
MIR4528:microRNA 4528 [Gene - HGNC]
MIR4529:microRNA 4529 [Gene - HGNC]
MIR4743:microRNA 4743 [Gene - HGNC]
MIR4744:microRNA 4744 [Gene - HGNC]
MIR5583-1:microRNA 5583-1 [Gene - HGNC]
MIR5583-2:microRNA 5583-2 [Gene - HGNC]
MIR924:microRNA 924 [Gene - HGNC]
MAPK4:mitogen-activated protein kinase 4 [Gene - OMIM - HGNC]
MYO5B:myosin VB [Gene - OMIM - HGNC]
ONECUT2:one cut homeobox 2 [Gene - OMIM - HGNC]
PMAIP1:phorbol-12-myristate-13-acetate-induced protein 1 [Gene - OMIM - HGNC]
PIK3C3:phosphatidylinositol 3-kinase catalytic subunit type 3 [Gene - OMIM - HGNC]
PIGN:phosphatidylinositol glycan anchor biosynthesis class N [Gene - OMIM - HGNC]
PSTPIP2:proline-serine-threonine phosphatase interacting protein 2 [Gene - OMIM - HGNC]
PIAS2:protein inhibitor of activated STAT 2 [Gene - OMIM - HGNC]
RAX:retina and anterior neural fold homeobox [Gene - OMIM - HGNC]
RPL17:ribosomal protein L17 [Gene - OMIM - HGNC]
RNF152:ring finger protein 152 [Gene - OMIM - HGNC]
SERPINB10:serpin family B member 10 [Gene - OMIM - HGNC]
SERPINB11:serpin family B member 11 [Gene - OMIM - HGNC]
SERPINB12:serpin family B member 12 [Gene - OMIM - HGNC]
SERPINB13:serpin family B member 13 [Gene - OMIM - HGNC]
SERPINB2:serpin family B member 2 [Gene - OMIM - HGNC]
SERPINB3:serpin family B member 3 [Gene - OMIM - HGNC]
SERPINB4:serpin family B member 4 [Gene - OMIM - HGNC]
SERPINB5:serpin family B member 5 [Gene - OMIM - HGNC]
SERPINB7:serpin family B member 7 [Gene - OMIM - HGNC]
SERPINB8:serpin family B member 8 [Gene - OMIM - HGNC]
SIGLEC15:sialic acid binding Ig like lectin 15 [Gene - OMIM - HGNC]
LOC111718495:skeletal muscle cis-regulatory module in SETBP1 intron [Gene]
SCARNA17:small Cajal body-specific RNA 17 [Gene - OMIM - HGNC]
SNHG22:small nucleolar RNA host gene 22 [Gene - HGNC]
SNORD58A:small nucleolar RNA, C/D box 58A [Gene - HGNC]
SNORD58B:small nucleolar RNA, C/D box 58B [Gene - HGNC]
SNORD58C:small nucleolar RNA, C/D box 58C [Gene - HGNC]
SNORA108:small nucleolar RNA, H/ACA box 108 [Gene - HGNC]
SNORA37:small nucleolar RNA, H/ACA box 37 [Gene - HGNC]
SLC14A1:solute carrier family 14 member 1 (Kidd blood group) [Gene - OMIM - HGNC]
SLC14A2:solute carrier family 14 member 2 [Gene - OMIM - HGNC]
SKA1:spindle and kinetochore associated complex subunit 1 [Gene - OMIM - HGNC]
SYT4:synaptotagmin 4 [Gene - OMIM - HGNC]
TRK-CTT6-1:tRNA-Lys (CTT) 6-1 [Gene - HGNC]
TXNL1:thioredoxin like 1 [Gene - OMIM - HGNC]
LOC109609705:transcription factor 4 repeat instability region [Gene]
TCF4:transcription factor 4 [Gene - OMIM - HGNC]
LOC105372143:uncharacterized LOC105372143 [Gene]
LOC105372145:uncharacterized LOC105372145 [Gene]
LOC105372155:uncharacterized LOC105372155 [Gene]
VPS4B:vacuolar protein sorting 4 homolog B [Gene - OMIM - HGNC]
ZCCHC2:zinc finger CCHC-type containing 2 [Gene - OMIM - HGNC]
ZBTB7C:zinc finger and BTB domain containing 7C [Gene - OMIM - HGNC]
ZNF532:zinc finger protein 532 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

18q12.2-22.1

Genomic location:

Preferred name:

GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3

HGVS:

NC_000018.10:g.(?_38794728)_(65632804_?)dup
NC_000018.8:g.(?_34628690)_(61451020_?)dup
NC_000018.9:g.(?_36374692)_(63300040_?)dup

Links:

dbVar: nssv582842; dbVar: nsv534272

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000177049	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Dec 22, 2010)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000177049

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Dec 22, 2010)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
human	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]

PMID:: 20466091
PMCID:: PMC2869000

Details of each submission

From ISCA site 1, SCV000177049.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	human	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Sep 1, 2024

ClinVar

Relating variation to medicine