GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 AND See cases

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 14, 2011
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:: RCV000135546.6

Allele description

GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3

Genes:

PHYKPL:5-phosphohydroxy-L-lysine phospho-lyase [Gene - OMIM - HGNC]
ADAMTS2:ADAM metallopeptidase with thrombospondin type 1 motif 2 [Gene - OMIM - HGNC]
ARL10:ADP ribosylation factor like GTPase 10 [Gene - HGNC]
LOC129995205:ATAC-STARR-seq lymphoblastoid active region 23585 [Gene]
LOC129995207:ATAC-STARR-seq lymphoblastoid active region 23586 [Gene]
LOC129995208:ATAC-STARR-seq lymphoblastoid active region 23587 [Gene]
LOC129995209:ATAC-STARR-seq lymphoblastoid active region 23588 [Gene]
LOC129995212:ATAC-STARR-seq lymphoblastoid active region 23589 [Gene]
LOC129995214:ATAC-STARR-seq lymphoblastoid active region 23590 [Gene]
LOC129995215:ATAC-STARR-seq lymphoblastoid active region 23591 [Gene]
LOC129995218:ATAC-STARR-seq lymphoblastoid active region 23592 [Gene]
LOC129995221:ATAC-STARR-seq lymphoblastoid active region 23593 [Gene]
LOC129995223:ATAC-STARR-seq lymphoblastoid active region 23594 [Gene]
LOC129995224:ATAC-STARR-seq lymphoblastoid active region 23595 [Gene]
LOC129995225:ATAC-STARR-seq lymphoblastoid active region 23596 [Gene]
LOC129995226:ATAC-STARR-seq lymphoblastoid active region 23597 [Gene]
LOC129995227:ATAC-STARR-seq lymphoblastoid active region 23598 [Gene]
LOC129995228:ATAC-STARR-seq lymphoblastoid active region 23599 [Gene]
LOC129995229:ATAC-STARR-seq lymphoblastoid active region 23600 [Gene]
LOC129995230:ATAC-STARR-seq lymphoblastoid active region 23601 [Gene]
LOC129995231:ATAC-STARR-seq lymphoblastoid active region 23602 [Gene]
LOC129995232:ATAC-STARR-seq lymphoblastoid active region 23603 [Gene]
LOC129995234:ATAC-STARR-seq lymphoblastoid active region 23604 [Gene]
LOC129995236:ATAC-STARR-seq lymphoblastoid active region 23605 [Gene]
LOC129995237:ATAC-STARR-seq lymphoblastoid active region 23606 [Gene]
LOC129995238:ATAC-STARR-seq lymphoblastoid active region 23607 [Gene]
LOC129995239:ATAC-STARR-seq lymphoblastoid active region 23610 [Gene]
LOC129995240:ATAC-STARR-seq lymphoblastoid active region 23611 [Gene]
LOC129995248:ATAC-STARR-seq lymphoblastoid active region 23613 [Gene]
LOC129995249:ATAC-STARR-seq lymphoblastoid active region 23614 [Gene]
LOC129995250:ATAC-STARR-seq lymphoblastoid active region 23615 [Gene]
LOC129995251:ATAC-STARR-seq lymphoblastoid active region 23616 [Gene]
LOC129995253:ATAC-STARR-seq lymphoblastoid active region 23618 [Gene]
LOC129995256:ATAC-STARR-seq lymphoblastoid active region 23620 [Gene]
LOC129995257:ATAC-STARR-seq lymphoblastoid active region 23621 [Gene]
LOC129995258:ATAC-STARR-seq lymphoblastoid active region 23623 [Gene]
LOC129995259:ATAC-STARR-seq lymphoblastoid active region 23624 [Gene]
LOC129995260:ATAC-STARR-seq lymphoblastoid active region 23625 [Gene]
LOC129995261:ATAC-STARR-seq lymphoblastoid active region 23626 [Gene]
LOC129995262:ATAC-STARR-seq lymphoblastoid active region 23627 [Gene]
LOC129995263:ATAC-STARR-seq lymphoblastoid active region 23628 [Gene]
LOC129995264:ATAC-STARR-seq lymphoblastoid active region 23629 [Gene]
LOC129995267:ATAC-STARR-seq lymphoblastoid active region 23630 [Gene]
LOC129995268:ATAC-STARR-seq lymphoblastoid active region 23631 [Gene]
LOC129995269:ATAC-STARR-seq lymphoblastoid active region 23632 [Gene]
LOC129995270:ATAC-STARR-seq lymphoblastoid active region 23633 [Gene]
LOC129995271:ATAC-STARR-seq lymphoblastoid active region 23634 [Gene]
LOC129995272:ATAC-STARR-seq lymphoblastoid active region 23636 [Gene]
LOC129995274:ATAC-STARR-seq lymphoblastoid active region 23637 [Gene]
LOC129995275:ATAC-STARR-seq lymphoblastoid active region 23638 [Gene]
LOC129995277:ATAC-STARR-seq lymphoblastoid active region 23639 [Gene]
LOC129995279:ATAC-STARR-seq lymphoblastoid active region 23640 [Gene]
LOC129995280:ATAC-STARR-seq lymphoblastoid active region 23641 [Gene]
LOC129995281:ATAC-STARR-seq lymphoblastoid active region 23642 [Gene]
LOC129995283:ATAC-STARR-seq lymphoblastoid active region 23645 [Gene]
LOC129995287:ATAC-STARR-seq lymphoblastoid active region 23647 [Gene]
LOC129995288:ATAC-STARR-seq lymphoblastoid active region 23648 [Gene]
LOC129995290:ATAC-STARR-seq lymphoblastoid active region 23649 [Gene]
LOC129995296:ATAC-STARR-seq lymphoblastoid active region 23652 [Gene]
LOC129995297:ATAC-STARR-seq lymphoblastoid active region 23653 [Gene]
LOC129995299:ATAC-STARR-seq lymphoblastoid active region 23654 [Gene]
LOC129995302:ATAC-STARR-seq lymphoblastoid active region 23655 [Gene]
LOC129995303:ATAC-STARR-seq lymphoblastoid active region 23656 [Gene]
LOC129995304:ATAC-STARR-seq lymphoblastoid active region 23657 [Gene]
LOC129995305:ATAC-STARR-seq lymphoblastoid active region 23658 [Gene]
LOC129995306:ATAC-STARR-seq lymphoblastoid active region 23659 [Gene]
LOC129995307:ATAC-STARR-seq lymphoblastoid active region 23660 [Gene]
LOC129995309:ATAC-STARR-seq lymphoblastoid active region 23661 [Gene]
LOC129995310:ATAC-STARR-seq lymphoblastoid active region 23662 [Gene]
LOC129995311:ATAC-STARR-seq lymphoblastoid active region 23663 [Gene]
LOC129995312:ATAC-STARR-seq lymphoblastoid active region 23665 [Gene]
LOC129995313:ATAC-STARR-seq lymphoblastoid active region 23666 [Gene]
LOC129995314:ATAC-STARR-seq lymphoblastoid active region 23667 [Gene]
LOC129995315:ATAC-STARR-seq lymphoblastoid active region 23668 [Gene]
LOC129995316:ATAC-STARR-seq lymphoblastoid active region 23669 [Gene]
LOC129995317:ATAC-STARR-seq lymphoblastoid active region 23670 [Gene]
LOC129995318:ATAC-STARR-seq lymphoblastoid active region 23671 [Gene]
LOC129995319:ATAC-STARR-seq lymphoblastoid active region 23672 [Gene]
LOC129995320:ATAC-STARR-seq lymphoblastoid active region 23673 [Gene]
LOC129995321:ATAC-STARR-seq lymphoblastoid active region 23674 [Gene]
LOC129995323:ATAC-STARR-seq lymphoblastoid active region 23675 [Gene]
LOC129995325:ATAC-STARR-seq lymphoblastoid active region 23676 [Gene]
LOC129995331:ATAC-STARR-seq lymphoblastoid active region 23680 [Gene]
LOC129995332:ATAC-STARR-seq lymphoblastoid active region 23681 [Gene]
LOC129995337:ATAC-STARR-seq lymphoblastoid active region 23684 [Gene]
LOC129995338:ATAC-STARR-seq lymphoblastoid active region 23685 [Gene]
LOC129995340:ATAC-STARR-seq lymphoblastoid active region 23686 [Gene]
LOC129995341:ATAC-STARR-seq lymphoblastoid active region 23687 [Gene]
LOC129995344:ATAC-STARR-seq lymphoblastoid active region 23688 [Gene]
LOC129995345:ATAC-STARR-seq lymphoblastoid active region 23689 [Gene]
LOC129995356:ATAC-STARR-seq lymphoblastoid active region 23691 [Gene]
LOC129995361:ATAC-STARR-seq lymphoblastoid active region 23693 [Gene]
LOC129995364:ATAC-STARR-seq lymphoblastoid active region 23699 [Gene]
LOC129995365:ATAC-STARR-seq lymphoblastoid active region 23700 [Gene]
LOC129995366:ATAC-STARR-seq lymphoblastoid active region 23701 [Gene]
LOC129995367:ATAC-STARR-seq lymphoblastoid active region 23702 [Gene]
LOC129995368:ATAC-STARR-seq lymphoblastoid active region 23703 [Gene]
LOC129995369:ATAC-STARR-seq lymphoblastoid active region 23704 [Gene]
LOC129995372:ATAC-STARR-seq lymphoblastoid active region 23705 [Gene]
LOC129995373:ATAC-STARR-seq lymphoblastoid active region 23706 [Gene]
LOC129995374:ATAC-STARR-seq lymphoblastoid active region 23708 [Gene]
LOC129995375:ATAC-STARR-seq lymphoblastoid active region 23709 [Gene]
LOC129995376:ATAC-STARR-seq lymphoblastoid active region 23710 [Gene]
LOC129995377:ATAC-STARR-seq lymphoblastoid active region 23711 [Gene]
LOC129995378:ATAC-STARR-seq lymphoblastoid active region 23712 [Gene]
LOC129995379:ATAC-STARR-seq lymphoblastoid active region 23717 [Gene]
LOC129995380:ATAC-STARR-seq lymphoblastoid active region 23718 [Gene]
LOC129995381:ATAC-STARR-seq lymphoblastoid active region 23719 [Gene]
LOC129995387:ATAC-STARR-seq lymphoblastoid active region 23720 [Gene]
LOC129995388:ATAC-STARR-seq lymphoblastoid active region 23721 [Gene]
LOC129995389:ATAC-STARR-seq lymphoblastoid active region 23722 [Gene]
LOC129995390:ATAC-STARR-seq lymphoblastoid active region 23723 [Gene]
LOC129995391:ATAC-STARR-seq lymphoblastoid active region 23724 [Gene]
LOC129995392:ATAC-STARR-seq lymphoblastoid active region 23725 [Gene]
LOC129995393:ATAC-STARR-seq lymphoblastoid active region 23726 [Gene]
LOC129995395:ATAC-STARR-seq lymphoblastoid active region 23727 [Gene]
LOC129995396:ATAC-STARR-seq lymphoblastoid active region 23728 [Gene]
LOC129995398:ATAC-STARR-seq lymphoblastoid active region 23731 [Gene]
LOC129995399:ATAC-STARR-seq lymphoblastoid active region 23732 [Gene]
LOC129995405:ATAC-STARR-seq lymphoblastoid active region 23733 [Gene]
LOC129995410:ATAC-STARR-seq lymphoblastoid active region 23739 [Gene]
LOC129995411:ATAC-STARR-seq lymphoblastoid active region 23740 [Gene]
LOC129995416:ATAC-STARR-seq lymphoblastoid active region 23742 [Gene]
LOC129995417:ATAC-STARR-seq lymphoblastoid active region 23743 [Gene]
LOC129995418:ATAC-STARR-seq lymphoblastoid active region 23744 [Gene]
LOC129995419:ATAC-STARR-seq lymphoblastoid active region 23745 [Gene]
LOC129995424:ATAC-STARR-seq lymphoblastoid active region 23748 [Gene]
LOC129995427:ATAC-STARR-seq lymphoblastoid active region 23749 [Gene]
LOC129995429:ATAC-STARR-seq lymphoblastoid active region 23750 [Gene]
LOC129995431:ATAC-STARR-seq lymphoblastoid active region 23751 [Gene]
LOC129995432:ATAC-STARR-seq lymphoblastoid active region 23752 [Gene]
LOC129995433:ATAC-STARR-seq lymphoblastoid active region 23753 [Gene]
LOC129995434:ATAC-STARR-seq lymphoblastoid active region 23754 [Gene]
LOC129995435:ATAC-STARR-seq lymphoblastoid active region 23756 [Gene]
LOC129995438:ATAC-STARR-seq lymphoblastoid active region 23757 [Gene]
LOC129995439:ATAC-STARR-seq lymphoblastoid active region 23758 [Gene]
LOC129995441:ATAC-STARR-seq lymphoblastoid active region 23759 [Gene]
LOC129995451:ATAC-STARR-seq lymphoblastoid active region 23765 [Gene]
LOC129995453:ATAC-STARR-seq lymphoblastoid active region 23766 [Gene]
LOC129995457:ATAC-STARR-seq lymphoblastoid active region 23767 [Gene]
LOC129995465:ATAC-STARR-seq lymphoblastoid active region 23768 [Gene]
LOC129995470:ATAC-STARR-seq lymphoblastoid active region 23769 [Gene]
LOC129995471:ATAC-STARR-seq lymphoblastoid active region 23770 [Gene]
LOC129995474:ATAC-STARR-seq lymphoblastoid active region 23771 [Gene]
LOC129995478:ATAC-STARR-seq lymphoblastoid active region 23772 [Gene]
LOC129995479:ATAC-STARR-seq lymphoblastoid active region 23773 [Gene]
LOC129995480:ATAC-STARR-seq lymphoblastoid active region 23774 [Gene]
LOC129995481:ATAC-STARR-seq lymphoblastoid active region 23775 [Gene]
LOC129995482:ATAC-STARR-seq lymphoblastoid active region 23776 [Gene]
LOC129995483:ATAC-STARR-seq lymphoblastoid active region 23778 [Gene]
LOC129995485:ATAC-STARR-seq lymphoblastoid active region 23780 [Gene]
LOC129995490:ATAC-STARR-seq lymphoblastoid active region 23781 [Gene]
LOC129995493:ATAC-STARR-seq lymphoblastoid active region 23782 [Gene]
LOC129995499:ATAC-STARR-seq lymphoblastoid active region 23783 [Gene]
LOC129995500:ATAC-STARR-seq lymphoblastoid active region 23784 [Gene]
LOC129995501:ATAC-STARR-seq lymphoblastoid active region 23785 [Gene]
LOC129995502:ATAC-STARR-seq lymphoblastoid active region 23786 [Gene]
LOC129995506:ATAC-STARR-seq lymphoblastoid active region 23787 [Gene]
LOC129995508:ATAC-STARR-seq lymphoblastoid active region 23788 [Gene]
LOC129995509:ATAC-STARR-seq lymphoblastoid active region 23789 [Gene]
LOC129995510:ATAC-STARR-seq lymphoblastoid active region 23790 [Gene]
LOC129995511:ATAC-STARR-seq lymphoblastoid active region 23791 [Gene]
LOC129995512:ATAC-STARR-seq lymphoblastoid active region 23792 [Gene]
LOC129995513:ATAC-STARR-seq lymphoblastoid active region 23794 [Gene]
LOC129995514:ATAC-STARR-seq lymphoblastoid active region 23795 [Gene]
LOC129995206:ATAC-STARR-seq lymphoblastoid silent region 16593 [Gene]
LOC129995210:ATAC-STARR-seq lymphoblastoid silent region 16594 [Gene]
LOC129995211:ATAC-STARR-seq lymphoblastoid silent region 16595 [Gene]
LOC129995213:ATAC-STARR-seq lymphoblastoid silent region 16597 [Gene]
LOC129995216:ATAC-STARR-seq lymphoblastoid silent region 16599 [Gene]
LOC129995217:ATAC-STARR-seq lymphoblastoid silent region 16600 [Gene]
LOC129995219:ATAC-STARR-seq lymphoblastoid silent region 16601 [Gene]
LOC129995220:ATAC-STARR-seq lymphoblastoid silent region 16602 [Gene]
LOC129995222:ATAC-STARR-seq lymphoblastoid silent region 16603 [Gene]
LOC129995233:ATAC-STARR-seq lymphoblastoid silent region 16604 [Gene]
LOC129995235:ATAC-STARR-seq lymphoblastoid silent region 16605 [Gene]
LOC129995241:ATAC-STARR-seq lymphoblastoid silent region 16606 [Gene]
LOC129995242:ATAC-STARR-seq lymphoblastoid silent region 16607 [Gene]
LOC129995243:ATAC-STARR-seq lymphoblastoid silent region 16608 [Gene]
LOC129995244:ATAC-STARR-seq lymphoblastoid silent region 16609 [Gene]
LOC129995245:ATAC-STARR-seq lymphoblastoid silent region 16610 [Gene]
LOC129995246:ATAC-STARR-seq lymphoblastoid silent region 16611 [Gene]
LOC129995247:ATAC-STARR-seq lymphoblastoid silent region 16612 [Gene]
LOC129995252:ATAC-STARR-seq lymphoblastoid silent region 16613 [Gene]
LOC129995254:ATAC-STARR-seq lymphoblastoid silent region 16614 [Gene]
LOC129995255:ATAC-STARR-seq lymphoblastoid silent region 16616 [Gene]
LOC129995265:ATAC-STARR-seq lymphoblastoid silent region 16617 [Gene]
LOC129995266:ATAC-STARR-seq lymphoblastoid silent region 16618 [Gene]
LOC129995273:ATAC-STARR-seq lymphoblastoid silent region 16621 [Gene]
LOC129995276:ATAC-STARR-seq lymphoblastoid silent region 16623 [Gene]
LOC129995278:ATAC-STARR-seq lymphoblastoid silent region 16624 [Gene]
LOC129995282:ATAC-STARR-seq lymphoblastoid silent region 16625 [Gene]
LOC129995284:ATAC-STARR-seq lymphoblastoid silent region 16627 [Gene]
LOC129995285:ATAC-STARR-seq lymphoblastoid silent region 16628 [Gene]
LOC129995286:ATAC-STARR-seq lymphoblastoid silent region 16629 [Gene]
LOC129995289:ATAC-STARR-seq lymphoblastoid silent region 16631 [Gene]
LOC129995291:ATAC-STARR-seq lymphoblastoid silent region 16633 [Gene]
LOC129995292:ATAC-STARR-seq lymphoblastoid silent region 16634 [Gene]
LOC129995293:ATAC-STARR-seq lymphoblastoid silent region 16635 [Gene]
LOC129995294:ATAC-STARR-seq lymphoblastoid silent region 16636 [Gene]
LOC129995295:ATAC-STARR-seq lymphoblastoid silent region 16637 [Gene]
LOC129995298:ATAC-STARR-seq lymphoblastoid silent region 16638 [Gene]
LOC129995300:ATAC-STARR-seq lymphoblastoid silent region 16639 [Gene]
LOC129995301:ATAC-STARR-seq lymphoblastoid silent region 16640 [Gene]
LOC129995308:ATAC-STARR-seq lymphoblastoid silent region 16641 [Gene]
LOC129995322:ATAC-STARR-seq lymphoblastoid silent region 16642 [Gene]
LOC129995324:ATAC-STARR-seq lymphoblastoid silent region 16643 [Gene]
LOC129995326:ATAC-STARR-seq lymphoblastoid silent region 16644 [Gene]
LOC129995327:ATAC-STARR-seq lymphoblastoid silent region 16645 [Gene]
LOC129995328:ATAC-STARR-seq lymphoblastoid silent region 16646 [Gene]
LOC129995329:ATAC-STARR-seq lymphoblastoid silent region 16647 [Gene]
LOC129995330:ATAC-STARR-seq lymphoblastoid silent region 16648 [Gene]
LOC129995333:ATAC-STARR-seq lymphoblastoid silent region 16649 [Gene]
LOC129995334:ATAC-STARR-seq lymphoblastoid silent region 16650 [Gene]
LOC129995335:ATAC-STARR-seq lymphoblastoid silent region 16651 [Gene]
LOC129995336:ATAC-STARR-seq lymphoblastoid silent region 16652 [Gene]
LOC129995339:ATAC-STARR-seq lymphoblastoid silent region 16653 [Gene]
LOC129995342:ATAC-STARR-seq lymphoblastoid silent region 16654 [Gene]
LOC129995343:ATAC-STARR-seq lymphoblastoid silent region 16655 [Gene]
LOC129995346:ATAC-STARR-seq lymphoblastoid silent region 16656 [Gene]
LOC129995347:ATAC-STARR-seq lymphoblastoid silent region 16657 [Gene]
LOC129995348:ATAC-STARR-seq lymphoblastoid silent region 16658 [Gene]
LOC129995349:ATAC-STARR-seq lymphoblastoid silent region 16659 [Gene]
LOC129995350:ATAC-STARR-seq lymphoblastoid silent region 16660 [Gene]
LOC129995351:ATAC-STARR-seq lymphoblastoid silent region 16661 [Gene]
LOC129995352:ATAC-STARR-seq lymphoblastoid silent region 16662 [Gene]
LOC129995353:ATAC-STARR-seq lymphoblastoid silent region 16663 [Gene]
LOC129995354:ATAC-STARR-seq lymphoblastoid silent region 16664 [Gene]
LOC129995355:ATAC-STARR-seq lymphoblastoid silent region 16665 [Gene]
LOC129995357:ATAC-STARR-seq lymphoblastoid silent region 16666 [Gene]
LOC129995358:ATAC-STARR-seq lymphoblastoid silent region 16667 [Gene]
LOC129995359:ATAC-STARR-seq lymphoblastoid silent region 16668 [Gene]
LOC129995360:ATAC-STARR-seq lymphoblastoid silent region 16670 [Gene]
LOC129995362:ATAC-STARR-seq lymphoblastoid silent region 16676 [Gene]
LOC129995363:ATAC-STARR-seq lymphoblastoid silent region 16677 [Gene]
LOC129995370:ATAC-STARR-seq lymphoblastoid silent region 16680 [Gene]
LOC129995371:ATAC-STARR-seq lymphoblastoid silent region 16681 [Gene]
LOC129995382:ATAC-STARR-seq lymphoblastoid silent region 16688 [Gene]
LOC129995383:ATAC-STARR-seq lymphoblastoid silent region 16691 [Gene]
LOC129995384:ATAC-STARR-seq lymphoblastoid silent region 16692 [Gene]
LOC129995385:ATAC-STARR-seq lymphoblastoid silent region 16696 [Gene]
LOC129995386:ATAC-STARR-seq lymphoblastoid silent region 16700 [Gene]
LOC129995394:ATAC-STARR-seq lymphoblastoid silent region 16701 [Gene]
LOC129995397:ATAC-STARR-seq lymphoblastoid silent region 16702 [Gene]
LOC129995400:ATAC-STARR-seq lymphoblastoid silent region 16704 [Gene]
LOC129995401:ATAC-STARR-seq lymphoblastoid silent region 16705 [Gene]
LOC129995402:ATAC-STARR-seq lymphoblastoid silent region 16706 [Gene]
LOC129995403:ATAC-STARR-seq lymphoblastoid silent region 16707 [Gene]
LOC129995404:ATAC-STARR-seq lymphoblastoid silent region 16708 [Gene]
LOC129995406:ATAC-STARR-seq lymphoblastoid silent region 16709 [Gene]
LOC129995407:ATAC-STARR-seq lymphoblastoid silent region 16710 [Gene]
LOC129995408:ATAC-STARR-seq lymphoblastoid silent region 16711 [Gene]
LOC129995409:ATAC-STARR-seq lymphoblastoid silent region 16712 [Gene]
LOC129995412:ATAC-STARR-seq lymphoblastoid silent region 16714 [Gene]
LOC129995413:ATAC-STARR-seq lymphoblastoid silent region 16715 [Gene]
LOC129995414:ATAC-STARR-seq lymphoblastoid silent region 16716 [Gene]
LOC129995415:ATAC-STARR-seq lymphoblastoid silent region 16717 [Gene]
LOC129995420:ATAC-STARR-seq lymphoblastoid silent region 16720 [Gene]
LOC129995421:ATAC-STARR-seq lymphoblastoid silent region 16721 [Gene]
LOC129995422:ATAC-STARR-seq lymphoblastoid silent region 16722 [Gene]
LOC129995423:ATAC-STARR-seq lymphoblastoid silent region 16723 [Gene]
LOC129995425:ATAC-STARR-seq lymphoblastoid silent region 16726 [Gene]
LOC129995426:ATAC-STARR-seq lymphoblastoid silent region 16727 [Gene]
LOC129995428:ATAC-STARR-seq lymphoblastoid silent region 16729 [Gene]
LOC129995430:ATAC-STARR-seq lymphoblastoid silent region 16730 [Gene]
LOC129995436:ATAC-STARR-seq lymphoblastoid silent region 16731 [Gene]
LOC129995437:ATAC-STARR-seq lymphoblastoid silent region 16732 [Gene]
LOC129995440:ATAC-STARR-seq lymphoblastoid silent region 16733 [Gene]
LOC129995442:ATAC-STARR-seq lymphoblastoid silent region 16735 [Gene]
LOC129995443:ATAC-STARR-seq lymphoblastoid silent region 16737 [Gene]
LOC129995444:ATAC-STARR-seq lymphoblastoid silent region 16739 [Gene]
LOC129995445:ATAC-STARR-seq lymphoblastoid silent region 16743 [Gene]
LOC129995446:ATAC-STARR-seq lymphoblastoid silent region 16744 [Gene]
LOC129995447:ATAC-STARR-seq lymphoblastoid silent region 16745 [Gene]
LOC129995448:ATAC-STARR-seq lymphoblastoid silent region 16746 [Gene]
LOC129995449:ATAC-STARR-seq lymphoblastoid silent region 16749 [Gene]
LOC129995450:ATAC-STARR-seq lymphoblastoid silent region 16750 [Gene]
LOC129995452:ATAC-STARR-seq lymphoblastoid silent region 16751 [Gene]
LOC129995454:ATAC-STARR-seq lymphoblastoid silent region 16752 [Gene]
LOC129995455:ATAC-STARR-seq lymphoblastoid silent region 16755 [Gene]
LOC129995456:ATAC-STARR-seq lymphoblastoid silent region 16756 [Gene]
LOC129995458:ATAC-STARR-seq lymphoblastoid silent region 16758 [Gene]
LOC129995459:ATAC-STARR-seq lymphoblastoid silent region 16759 [Gene]
LOC129995460:ATAC-STARR-seq lymphoblastoid silent region 16760 [Gene]
LOC129995461:ATAC-STARR-seq lymphoblastoid silent region 16761 [Gene]
LOC129995462:ATAC-STARR-seq lymphoblastoid silent region 16762 [Gene]
LOC129995463:ATAC-STARR-seq lymphoblastoid silent region 16763 [Gene]
LOC129995464:ATAC-STARR-seq lymphoblastoid silent region 16765 [Gene]
LOC129995466:ATAC-STARR-seq lymphoblastoid silent region 16766 [Gene]
LOC129995467:ATAC-STARR-seq lymphoblastoid silent region 16767 [Gene]
LOC129995468:ATAC-STARR-seq lymphoblastoid silent region 16768 [Gene]
LOC129995469:ATAC-STARR-seq lymphoblastoid silent region 16769 [Gene]
LOC129995472:ATAC-STARR-seq lymphoblastoid silent region 16773 [Gene]
LOC129995473:ATAC-STARR-seq lymphoblastoid silent region 16774 [Gene]
LOC129995475:ATAC-STARR-seq lymphoblastoid silent region 16775 [Gene]
LOC129995476:ATAC-STARR-seq lymphoblastoid silent region 16776 [Gene]
LOC129995477:ATAC-STARR-seq lymphoblastoid silent region 16777 [Gene]
LOC129995484:ATAC-STARR-seq lymphoblastoid silent region 16779 [Gene]
LOC129995486:ATAC-STARR-seq lymphoblastoid silent region 16780 [Gene]
LOC129995487:ATAC-STARR-seq lymphoblastoid silent region 16781 [Gene]
LOC129995488:ATAC-STARR-seq lymphoblastoid silent region 16782 [Gene]
LOC129995489:ATAC-STARR-seq lymphoblastoid silent region 16783 [Gene]
LOC129995491:ATAC-STARR-seq lymphoblastoid silent region 16784 [Gene]
LOC129995492:ATAC-STARR-seq lymphoblastoid silent region 16785 [Gene]
LOC129995494:ATAC-STARR-seq lymphoblastoid silent region 16786 [Gene]
LOC129995495:ATAC-STARR-seq lymphoblastoid silent region 16787 [Gene]
LOC129995496:ATAC-STARR-seq lymphoblastoid silent region 16788 [Gene]
LOC129995497:ATAC-STARR-seq lymphoblastoid silent region 16789 [Gene]
LOC129995498:ATAC-STARR-seq lymphoblastoid silent region 16790 [Gene]
LOC129995503:ATAC-STARR-seq lymphoblastoid silent region 16791 [Gene]
LOC129995504:ATAC-STARR-seq lymphoblastoid silent region 16792 [Gene]
LOC129995505:ATAC-STARR-seq lymphoblastoid silent region 16793 [Gene]
LOC129995507:ATAC-STARR-seq lymphoblastoid silent region 16794 [Gene]
LOC129995515:ATAC-STARR-seq lymphoblastoid silent region 16798 [Gene]
LOC129995516:ATAC-STARR-seq lymphoblastoid silent region 16799 [Gene]
ATP6V0E1:ATPase H+ transporting V0 subunit e1 [Gene - OMIM - HGNC]
BNIP1:BCL2 interacting protein 1 [Gene - OMIM - HGNC]
LOC126807583:BRD4-independent group 4 enhancer GRCh37_chr5:167551431-167552630 [Gene]
LOC126807587:BRD4-independent group 4 enhancer GRCh37_chr5:168249557-168250756 [Gene]
LOC126807589:BRD4-independent group 4 enhancer GRCh37_chr5:169122482-169123681 [Gene]
LOC126807590:BRD4-independent group 4 enhancer GRCh37_chr5:169403516-169404715 [Gene]
LOC126807592:BRD4-independent group 4 enhancer GRCh37_chr5:169730050-169731249 [Gene]
LOC126807595:BRD4-independent group 4 enhancer GRCh37_chr5:170666590-170667789 [Gene]
LOC126807596:BRD4-independent group 4 enhancer GRCh37_chr5:170720541-170721740 [Gene]
LOC126807598:BRD4-independent group 4 enhancer GRCh37_chr5:171221789-171222988 [Gene]
LOC126807599:BRD4-independent group 4 enhancer GRCh37_chr5:171788418-171789617 [Gene]
LOC126807602:BRD4-independent group 4 enhancer GRCh37_chr5:172382074-172383273 [Gene]
LOC126807611:BRD4-independent group 4 enhancer GRCh37_chr5:173999018-174000217 [Gene]
LOC126807613:BRD4-independent group 4 enhancer GRCh37_chr5:174697681-174698880 [Gene]
LOC126807621:BRD4-independent group 4 enhancer GRCh37_chr5:177020409-177021608 [Gene]
LOC126807622:BRD4-independent group 4 enhancer GRCh37_chr5:177951804-177953003 [Gene]
LOC126807623:BRD4-independent group 4 enhancer GRCh37_chr5:178070356-178071555 [Gene]
LOC126807631:BRD4-independent group 4 enhancer GRCh37_chr5:179912532-179913731 [Gene]
CNOT6:CCR4-NOT transcription complex subunit 6 [Gene - OMIM - HGNC]
CLK4:CDC like kinase 4 [Gene - OMIM - HGNC]
LOC126807577:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:164891341-164892540 [Gene]
LOC126807581:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:167342965-167344164 [Gene]
LOC126807607:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:173390440-173391639 [Gene]
LOC126807610:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:173958925-173960124 [Gene]
LOC126807612:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:174550039-174551238 [Gene]
LOC126807616:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:175918968-175920167 [Gene]
LOC126807618:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:176488686-176489885 [Gene]
LOC126807620:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:176728411-176729610 [Gene]
LOC126807625:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:179003374-179004573 [Gene]
LOC126807627:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:179302124-179303323 [Gene]
LOC126807630:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:179894063-179895262 [Gene]
LOC126807632:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:180046831-180048030 [Gene]
LOC126807633:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:180376978-180378177 [Gene]
CREBRF:CREB3 regulatory factor [Gene - OMIM - HGNC]
LOC116158527:CRISPRi-validated cis-regulatory element chr5.4451 [Gene]
LOC116158528:CRISPRi-validated cis-regulatory element chr5.4552 [Gene]
LOC116158530:CRISPRi-validated cis-regulatory element chr5.4558 [Gene]
LOC116158531:CRISPRi-validated cis-regulatory element chr5.4561 [Gene]
LOC116158532:CRISPRi-validated cis-regulatory element chr5.4562 [Gene]
LOC116158533:CRISPRi-validated cis-regulatory element chr5.4836 [Gene]
LOC116158534:CRISPRi-validated cis-regulatory element chr5.4837 [Gene]
LOC116158535:CRISPRi-validated cis-regulatory element chr5.4886 [Gene]
LOC116158536:CRISPRi-validated cis-regulatory element chr5.4957 [Gene]
DDX41:DEAD-box helicase 41 [Gene - OMIM - HGNC]
LOC105980008:DLCR-2B recombination region [Gene]
EFCAB9:EF-hand calcium binding domain 9 [Gene - OMIM - HGNC]
FBXW11:F-box and WD repeat domain containing 11 [Gene - OMIM - HGNC]
LOC109279841:FGFR4 5' regulatory region [Gene]
FAF2:Fas associated factor family member 2 [Gene - OMIM - HGNC]
GPRIN1:G protein regulated inducer of neurite outgrowth 1 [Gene - OMIM - HGNC]
GRK6:G protein-coupled receptor kinase 6 [Gene - OMIM - HGNC]
LOC111556140:GATA motif-containing MPRA enhancer 81 [Gene]
HIGD2A:HIG1 hypoxia inducible domain family member 2A [Gene - HGNC]
KCNIP1-AS1:KCNIP1 antisense RNA 1 [Gene - HGNC]
KCNIP1-OT1:KCNIP1 overlapping transcript 1 [Gene - HGNC]
KIAA1191:KIAA1191 [Gene - HGNC]
MXD3:MAX dimerization protein 3 [Gene - OMIM - HGNC]
LOC126807578:MED14-independent group 3 enhancer GRCh37_chr5:165241962-165243161 [Gene]
LOC126807579:MED14-independent group 3 enhancer GRCh37_chr5:166309500-166310699 [Gene]
LOC126807582:MED14-independent group 3 enhancer GRCh37_chr5:167364582-167365781 [Gene]
LOC126807584:MED14-independent group 3 enhancer GRCh37_chr5:167836336-167837535 [Gene]
LOC126807588:MED14-independent group 3 enhancer GRCh37_chr5:168433635-168434834 [Gene]
LOC126807597:MED14-independent group 3 enhancer GRCh37_chr5:171207801-171209000 [Gene]
LOC126807600:MED14-independent group 3 enhancer GRCh37_chr5:172233916-172235115 [Gene]
LOC126807603:MED14-independent group 3 enhancer GRCh37_chr5:172743860-172745059 [Gene]
LOC126807605:MED14-independent group 3 enhancer GRCh37_chr5:172995751-172996950 [Gene]
LOC121099714:MED14-independent group 3 enhancer GRCh37_chr5:173204773-173205972 [Gene]
LOC126807608:MED14-independent group 3 enhancer GRCh37_chr5:173755250-173756449 [Gene]
LOC126807615:MED14-independent group 3 enhancer GRCh37_chr5:175815238-175816437 [Gene]
LOC126807619:MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642 [Gene]
LOC126807624:MED14-independent group 3 enhancer GRCh37_chr5:178819998-178821197 [Gene]
LOC126807628:MED14-independent group 3 enhancer GRCh37_chr5:179461041-179462240 [Gene]
LOC129389412:MPRA-validated peak5573 silencer [Gene]
LOC129389413:MPRA-validated peak5578 silencer [Gene]
LOC129389414:MPRA-validated peak5581 silencer [Gene]
LOC129389415:MPRA-validated peak5582 silencer [Gene]
LOC129389416:MPRA-validated peak5585 silencer [Gene]
LOC129389417:MPRA-validated peak5588 silencer [Gene]
LOC129389418:MPRA-validated peak5589 silencer [Gene]
LOC129389419:MPRA-validated peak5592 silencer [Gene]
LOC129389420:MPRA-validated peak5597 silencer [Gene]
LOC129389421:MPRA-validated peak5604 silencer [Gene]
LOC129389422:MPRA-validated peak5609 silencer [Gene]
MRNIP:MRN complex interacting protein [Gene - OMIM - HGNC]
MRNIP-DT:MRNIP divergent transcript [Gene - HGNC]
MSANTD5:Myb/SANT DNA binding domain containing 5 [Gene - HGNC]
N4BP3:NEDD4 binding protein 3 [Gene - OMIM - HGNC]
LOC111500319:NFE2L2 motif-containing MPRA enhancer 276 [Gene]
NHP2:NHP2 ribonucleoprotein [Gene - OMIM - HGNC]
NKX2-5:NK2 homeobox 5 [Gene - OMIM - HGNC]
NOP16:NOP16 nucleolar protein [Gene - OMIM - HGNC]
LOC132089224:Neanderthal introgressed variant-containing enhancer experimental_83529 [Gene]
LOC132090748:Neanderthal introgressed variant-containing enhancer experimental_83602 [Gene]
LOC132089225:Neanderthal introgressed variant-containing enhancer experimental_83610 [Gene]
LOC132089226:Neanderthal introgressed variant-containing enhancer experimental_83640 [Gene]
LOC132089227:Neanderthal introgressed variant-containing enhancer experimental_83662 [Gene]
LOC132089228:Neanderthal introgressed variant-containing enhancer experimental_83672 [Gene]
LOC132089230:Neanderthal introgressed variant-containing enhancer experimental_83773 [Gene]
LOC126807580:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:166721659-166722858 [Gene]
LOC126807585:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:168139117-168140316 [Gene]
LOC126807586:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:168212567-168213766 [Gene]
LOC126807591:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:169646378-169647577 [Gene]
LOC126807593:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:169757700-169758899 [Gene]
LOC126807594:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:170024020-170025219 [Gene]
LOC126807601:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:172276540-172277739 [Gene]
LOC123575619:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:172331587-172332786 [Gene]
LOC126807604:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:172881780-172882979 [Gene]
LOC126807606:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:173059934-173061133 [Gene]
LOC126807609:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:173762765-173763964 [Gene]
LOC126807614:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:174943953-174945152 [Gene]
LOC126807617:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:176214607-176215806 [Gene]
LOC123575633:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:178057087-178058286 [Gene]
LOC126807626:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:179245687-179246886 [Gene]
LOC126807629:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:179868388-179869587 [Gene]
PDLIM7:PDZ and LIM domain 7 [Gene - OMIM - HGNC]
LOC105980006:PLCR-B recombination region [Gene]
PRELID1:PRELI domain containing 1 [Gene - OMIM - HGNC]
PROP1:PROP paired-like homeobox 1 [Gene - OMIM - HGNC]
PRR7-AS1:PRR7 antisense RNA 1 [Gene - HGNC]
RAB24:RAB24, member RAS oncogene family [Gene - OMIM - HGNC]
RANBP17:RAN binding protein 17 [Gene - OMIM - HGNC]
RPL26L1-AS1:RPL26L1 antisense RNA 1 [Gene - HGNC]
RUFY1-AS1:RUFY1 antisense RNA 1 [Gene - HGNC]
RUFY1:RUN and FYVE domain containing 1 [Gene - OMIM - HGNC]
RASGEF1C:RasGEF domain family member 1C [Gene - HGNC]
SH3PXD2B:SH3 and PX domains 2B [Gene - OMIM - HGNC]
SLIT3-AS1:SLIT3 antisense RNA 1 [Gene - HGNC]
SLIT3-AS2:SLIT3 antisense RNA 2 [Gene - HGNC]
SIMC1:SUMO interacting motifs containing 1 [Gene - OMIM - HGNC]
LOC112997576:Sharpr-MPRA regulatory region 10478 [Gene]
LOC114004391:Sharpr-MPRA regulatory region 11151 [Gene]
LOC123575625:Sharpr-MPRA regulatory region 11389 [Gene]
LOC123575632:Sharpr-MPRA regulatory region 11707 [Gene]
LOC121740634:Sharpr-MPRA regulatory region 11782 [Gene]
LOC112997582:Sharpr-MPRA regulatory region 11836 [Gene]
LOC123575640:Sharpr-MPRA regulatory region 11855 [Gene]
LOC112997578:Sharpr-MPRA regulatory region 12084 [Gene]
LOC123575609:Sharpr-MPRA regulatory region 1255 [Gene]
LOC123575641:Sharpr-MPRA regulatory region 12726 [Gene]
LOC123575628:Sharpr-MPRA regulatory region 12759 [Gene]
LOC123575620:Sharpr-MPRA regulatory region 12761 [Gene]
LOC112997580:Sharpr-MPRA regulatory region 12912 [Gene]
LOC123575622:Sharpr-MPRA regulatory region 12964 [Gene]
LOC121099716:Sharpr-MPRA regulatory region 13731 [Gene]
LOC123575623:Sharpr-MPRA regulatory region 13797 [Gene]
LOC123575638:Sharpr-MPRA regulatory region 14850 [Gene]
LOC123575614:Sharpr-MPRA regulatory region 15284 [Gene]
LOC121099718:Sharpr-MPRA regulatory region 15492 [Gene]
LOC112997583:Sharpr-MPRA regulatory region 15558 [Gene]
LOC112997575:Sharpr-MPRA regulatory region 1765 [Gene]
LOC121099717:Sharpr-MPRA regulatory region 1974 [Gene]
LOC121740632:Sharpr-MPRA regulatory region 2476 [Gene]
LOC123575615:Sharpr-MPRA regulatory region 286 [Gene]
LOC123575618:Sharpr-MPRA regulatory region 3838 [Gene]
LOC123575626:Sharpr-MPRA regulatory region 3886 [Gene]
LOC112997584:Sharpr-MPRA regulatory region 4162 [Gene]
LOC123575624:Sharpr-MPRA regulatory region 4386 [Gene]
LOC123575637:Sharpr-MPRA regulatory region 4663 [Gene]
LOC123575621:Sharpr-MPRA regulatory region 4768 [Gene]
LOC121099715:Sharpr-MPRA regulatory region 4950 [Gene]
LOC123575629:Sharpr-MPRA regulatory region 4969 [Gene]
LOC123575611:Sharpr-MPRA regulatory region 5384 [Gene]
LOC123575634:Sharpr-MPRA regulatory region 5461 [Gene]
LOC123575636:Sharpr-MPRA regulatory region 5800 [Gene]
LOC123575631:Sharpr-MPRA regulatory region 583 [Gene]
LOC112997577:Sharpr-MPRA regulatory region 5956 [Gene]
LOC123575617:Sharpr-MPRA regulatory region 6627 [Gene]
LOC123575630:Sharpr-MPRA regulatory region 7457 [Gene]
LOC121740633:Sharpr-MPRA regulatory region 75 [Gene]
LOC123575627:Sharpr-MPRA regulatory region 8396 [Gene]
LOC121740635:Sharpr-MPRA regulatory region 8548 [Gene]
LOC123575612:Sharpr-MPRA regulatory region 8772 [Gene]
LOC112997579:Sharpr-MPRA regulatory region 8865 [Gene]
LOC123575639:Sharpr-MPRA regulatory region 9005 [Gene]
LOC112997581:Sharpr-MPRA regulatory region 9172 [Gene]
LOC123575616:Sharpr-MPRA regulatory region 9260 [Gene]
LOC123575610:Sharpr-MPRA regulatory region 928 [Gene]
LOC121099713:Sharpr-MPRA regulatory region 9502 [Gene]
LOC123575635:Sharpr-MPRA regulatory region 9602 [Gene]
TLX3:T cell leukemia homeobox 3 [Gene - OMIM - HGNC]
TBC1D9B:TBC1 domain family member 9B [Gene - OMIM - HGNC]
TENM2-AS1:TENM2 antisense RNA 2 [Gene - HGNC]
THOC3:THO complex subunit 3 [Gene - OMIM - HGNC]
THOC3-AS1:THOC3 antisense RNA 1 [Gene - HGNC]
TRIM52-AS1:TRIM52 antisense RNA 1 (head to head) [Gene - OMIM - HGNC]
TRIM7-AS2:TRIM7 antisense RNA 2 [Gene - HGNC]
LOC110121041:VISTA enhancer hs1256 [Gene]
LOC110121211:VISTA enhancer hs1828 [Gene]
LOC110121241:VISTA enhancer hs2007 [Gene]
LOC110121272:VISTA enhancer hs2185 [Gene]
LOC110121284:VISTA enhancer hs2229 [Gene]
LOC110120643:VISTA enhancer hs278 [Gene]
LOC110120714:VISTA enhancer hs608 [Gene]
LOC110120747:VISTA enhancer hs693 [Gene]
WWC1:WW and C2 domain containing 1 [Gene - OMIM - HGNC]
ZFP2:ZFP2 zinc finger protein [Gene - HGNC]
ZFP62:ZFP62 zinc finger protein [Gene - OMIM - HGNC]
ZNF454-DT:ZNF454 divergent transcript [Gene - HGNC]
MGAT1:alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
MGAT4B:alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B [Gene - OMIM - HGNC]
RARS1:arginyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
B4GALT7:beta-1,4-galactosyltransferase 7 [Gene - OMIM - HGNC]
BOD1:biorientation of chromosomes in cell division 1 [Gene - OMIM - HGNC]
BTNL3:butyrophilin like 3 [Gene - OMIM - HGNC]
BTNL8:butyrophilin like 8 [Gene - OMIM - HGNC]
BTNL9:butyrophilin like 9 [Gene - HGNC]
CDHR2:cadherin related family member 2 [Gene - OMIM - HGNC]
CANX:calnexin [Gene - OMIM - HGNC]
CBY3:chibby family member 3 [Gene - HGNC]
C5orf47:chromosome 5 open reading frame 47 [Gene - OMIM - HGNC]
C5orf58:chromosome 5 open reading frame 58 [Gene - HGNC]
LOC100289470:chromosome 5 open reading frame 60-like [Gene]
LOC100502572:chromosome 5 open reading frame 60-like [Gene]
C5orf60:chromosome 5 open reading frame 60 [Gene - HGNC]
CLTB:clathrin light chain B [Gene - OMIM - HGNC]
F12:coagulation factor XII [Gene - OMIM - HGNC]
COL23A1:collagen type XXIII alpha 1 chain [Gene - OMIM - HGNC]
CPLX2:complexin 2 [Gene - OMIM - HGNC]
CPEB4:cytoplasmic polyadenylation element binding protein 4 [Gene - OMIM - HGNC]
DOCK2:dedicator of cytokinesis 2 [Gene - OMIM - HGNC]
DOK3:docking protein 3 [Gene - OMIM - HGNC]
DRD1:dopamine receptor D1 [Gene - OMIM - HGNC]
DBN1:drebrin 1 [Gene - OMIM - HGNC]
DUSP1:dual specificity phosphatase 1 [Gene - OMIM - HGNC]
ERGIC1:endoplasmic reticulum-golgi intermediate compartment 1 [Gene - OMIM - HGNC]
EIF4E1B:eukaryotic translation initiation factor 4E family member 1B [Gene - HGNC]
FAM153A:family with sequence similarity 153 member A [Gene - HGNC]
FAM153B:family with sequence similarity 153 member B [Gene - HGNC]
FAM193B:family with sequence similarity 193 member B [Gene - OMIM - HGNC]
FBLL1:fibrillarin like 1 [Gene - HGNC]
FGF18:fibroblast growth factor 18 [Gene - OMIM - HGNC]
FGFR4:fibroblast growth factor receptor 4 [Gene - OMIM - HGNC]
FLT4:fms related receptor tyrosine kinase 4 [Gene - OMIM - HGNC]
FOXI1:forkhead box I1 [Gene - OMIM - HGNC]
GABRP:gamma-aminobutyric acid type A receptor subunit pi [Gene - OMIM - HGNC]
GMCL2:germ cell-less 2, spermatogenesis associated [Gene - OMIM - HGNC]
GRM6:glutamate metabotropic receptor 6 [Gene - OMIM - HGNC]
GFPT2:glutamine-fructose-6-phosphate transaminase 2 [Gene - OMIM - HGNC]
LOC108004526:heart enhancer 25 [Gene]
HEIH:hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNA [Gene - OMIM - HGNC]
HNRNPAB:heterogeneous nuclear ribonucleoprotein A/B [Gene - OMIM - HGNC]
HNRNPH1:heterogeneous nuclear ribonucleoprotein H1 [Gene - OMIM - HGNC]
HK3:hexokinase 3 [Gene - OMIM - HGNC]
HRH2:histamine receptor H2 [Gene - OMIM - HGNC]
INSYN2B:inhibitory synaptic factor family member 2B [Gene - HGNC]
LMAN2:lectin, mannose binding 2 [Gene - OMIM - HGNC]
LTC4S:leukotriene C4 synthase [Gene - OMIM - HGNC]
LINC01187:long intergenic non-protein coding RNA 1187 [Gene - HGNC]
LINC01366:long intergenic non-protein coding RNA 1366 [Gene - HGNC]
LINC01411:long intergenic non-protein coding RNA 1411 [Gene - HGNC]
LINC01484:long intergenic non-protein coding RNA 1484 [Gene - HGNC]
LINC01485:long intergenic non-protein coding RNA 1485 [Gene - HGNC]
LINC01574:long intergenic non-protein coding RNA 1574 [Gene - HGNC]
LINC01938:long intergenic non-protein coding RNA 1938 [Gene - HGNC]
LINC01942:long intergenic non-protein coding RNA 1942 [Gene - HGNC]
LINC01944:long intergenic non-protein coding RNA 1944 [Gene - HGNC]
LINC01947:long intergenic non-protein coding RNA 1947 [Gene - HGNC]
LINC01951:long intergenic non-protein coding RNA 1951 [Gene - HGNC]
LINC01962:long intergenic non-protein coding RNA 1962 [Gene - HGNC]
LINC02143:long intergenic non-protein coding RNA 2143 [Gene - HGNC]
LINC02222:long intergenic non-protein coding RNA 2222 [Gene - HGNC]
LINC02995:long intergenic non-protein coding RNA 2995 [Gene - HGNC]
LINC03000:long intergenic non-protein coding RNA 3000 [Gene - HGNC]
LINC00847:long intergenic non-protein coding RNA 847 [Gene - HGNC]
LCP2:lymphocyte cytosolic protein 2 [Gene - OMIM - HGNC]
MAML1:mastermind like transcriptional coactivator 1 [Gene - OMIM - HGNC]
MIR103A1:microRNA 103a-1 [Gene - OMIM - HGNC]
MIR103B1:microRNA 103b-1 [Gene - HGNC]
MIR10523:microRNA 10523 [Gene - HGNC]
MIR12118:microRNA 12118 [Gene - HGNC]
MIR12125:microRNA 12125 [Gene - HGNC]
MIR1229:microRNA 1229 [Gene - HGNC]
MIR1271:microRNA 1271 [Gene - HGNC]
MIR218-2:microRNA 218-2 [Gene - OMIM - HGNC]
MIR340:microRNA 340 [Gene - HGNC]
MIR378E:microRNA 378e [Gene - HGNC]
MIR3912:microRNA 3912 [Gene - HGNC]
MIR4281:microRNA 4281 [Gene - HGNC]
MIR4634:microRNA 4634 [Gene - HGNC]
MIR4638:microRNA 4638 [Gene - HGNC]
MIR5003:microRNA 5003 [Gene - HGNC]
MIR585:microRNA 585 [Gene - HGNC]
MIR8056:microRNA 8056 [Gene - HGNC]
MIR8089:microRNA 8089 [Gene - HGNC]
MAPK9:mitogen-activated protein kinase 9 [Gene - OMIM - HGNC]
MSX2:msh homeobox 2 [Gene - OMIM - HGNC]
NEURL1B:neuralized E3 ubiquitin protein ligase 1B [Gene - OMIM - HGNC]
NSG2:neuronal vesicle trafficking associated 2 [Gene - OMIM - HGNC]
NSD1:nuclear receptor binding SET domain protein 1 [Gene - OMIM - HGNC]
NPM1:nucleophosmin 1 [Gene - OMIM - HGNC]
OR2V1:olfactory receptor family 2 subfamily V member 1 [Gene - HGNC]
OR2V2:olfactory receptor family 2 subfamily V member 2 [Gene - HGNC]
OR2Y1:olfactory receptor family 2 subfamily Y member 1 [Gene - HGNC]
PANK3:pantothenate kinase 3 [Gene - OMIM - HGNC]
KCNMB1:potassium calcium-activated channel subfamily M regulatory beta subunit 1 [Gene - OMIM - HGNC]
KCNIP1:potassium voltage-gated channel interacting protein 1 [Gene - OMIM - HGNC]
PFN3:profilin 3 [Gene - OMIM - HGNC]
PRR7:proline rich 7, synaptic [Gene - OMIM - HGNC]
RACK1:receptor for activated C kinase 1 [Gene - OMIM - HGNC]
RGS14:regulator of G protein signaling 14 [Gene - OMIM - HGNC]
RMND5B:required for meiotic nuclear division 5 homolog B [Gene - HGNC]
RPL26L1:ribosomal protein L26 like 1 [Gene - HGNC]
RNF130:ring finger protein 130 [Gene - OMIM - HGNC]
RNF44:ring finger protein 44 [Gene - OMIM - HGNC]
SCGB3A1:secretoglobin family 3A member 1 [Gene - OMIM - HGNC]
SQSTM1:sequestosome 1 [Gene - OMIM - HGNC]
STK10:serine/threonine kinase 10 [Gene - OMIM - HGNC]
SFXN1:sideroflexin 1 [Gene - OMIM - HGNC]
SLIT3:slit guidance ligand 3 [Gene - OMIM - HGNC]
SMIM23:small integral membrane protein 23 [Gene - HGNC]
SNORD95:small nucleolar RNA, C/D box 95 [Gene - HGNC]
SNORD96A:small nucleolar RNA, C/D box 96A [Gene - HGNC]
SNORA70J:small nucleolar RNA, H/ACA box 70J [Gene - HGNC]
SNORA74B:small nucleolar RNA, H/ACA box 74B [Gene - OMIM - HGNC]
SLC34A1:solute carrier family 34 member 1 [Gene - OMIM - HGNC]
SPDL1:spindle apparatus coiled-coil protein 1 [Gene - OMIM - HGNC]
STC2:stanniocalcin 2 [Gene - OMIM - HGNC]
SNCB:synuclein beta [Gene - OMIM - HGNC]
TRA-TGC3-1:tRNA-Ala (anticodon TGC) 3-1 [Gene - HGNC]
TRL-AAG1-1:tRNA-Leu (anticodon AAG) 1-1 [Gene - HGNC]
TRL-AAG1-2:tRNA-Leu (anticodon AAG) 1-2 [Gene - HGNC]
TRL-AAG1-3:tRNA-Leu (anticodon AAG) 1-3 [Gene - HGNC]
TRL-AAG2-1:tRNA-Leu (anticodon AAG) 2-1 [Gene - HGNC]
TRK-CTT2-2:tRNA-Lys (anticodon CTT) 2-2 [Gene - HGNC]
TRK-CTT2-3:tRNA-Lys (anticodon CTT) 2-3 [Gene - OMIM - HGNC]
TRP-TGG3-1:tRNA-Pro (anticodon TGG) 3-1 [Gene - OMIM - HGNC]
TRT-TGT6-1:tRNA-Thr (anticodon TGT) 6-1 [Gene - OMIM - HGNC]
TRV-AAC1-2:tRNA-Val (anticodon AAC) 1-2 [Gene - HGNC]
TRV-AAC1-3:tRNA-Val (anticodon AAC) 1-3 [Gene - HGNC]
TRV-AAC1-4:tRNA-Val (anticodon AAC) 1-4 [Gene - OMIM - HGNC]
TRV-AAC2-1:tRNA-Val (anticodon AAC) 2-1 [Gene - HGNC]
TRV-CAC1-2:tRNA-Val (anticodon CAC) 1-2 [Gene - OMIM - HGNC]
TRV-CAC1-3:tRNA-Val (anticodon CAC) 1-3 [Gene - HGNC]
TRV-CAC1-4:tRNA-Val (anticodon CAC) 1-4 [Gene - HGNC]
TRV-CAC1-5:tRNA-Val (anticodon CAC) 1-5 [Gene - HGNC]
TENM2:teneurin transmembrane protein 2 [Gene - OMIM - HGNC]
TSPAN17:tetraspanin 17 [Gene - OMIM - HGNC]
TMED9:transmembrane p24 trafficking protein 9 [Gene - OMIM - HGNC]
TRIM41:tripartite motif containing 41 [Gene - OMIM - HGNC]
TRIM52:tripartite motif containing 52 [Gene - OMIM - HGNC]
TRIM7:tripartite motif containing 7 [Gene - OMIM - HGNC]
UBTD2:ubiquitin domain containing 2 [Gene - OMIM - HGNC]
UIMC1:ubiquitin interaction motif containing 1 [Gene - OMIM - HGNC]
UNC5A:unc-5 netrin receptor A [Gene - OMIM - HGNC]
LOC100128059:uncharacterized LOC100128059 [Gene]
LOC100128340:uncharacterized LOC100128340 [Gene]
LOC100288254:uncharacterized LOC100288254 [Gene]
LOC100996385:uncharacterized LOC100996385 [Gene]
LOC101927908:uncharacterized LOC101927908 [Gene]
LOC101928093:uncharacterized LOC101928093 [Gene]
CTC-338M12.4:uncharacterized LOC101928649 [Gene]
LOC102546299:uncharacterized LOC102546299 [Gene]
LOC102724551:uncharacterized LOC102724551 [Gene]
LOC105377730:uncharacterized LOC105377730 [Gene]
LOC105377753:uncharacterized LOC105377753 [Gene]
LOC105377763:uncharacterized LOC105377763 [Gene]
LOC128966623:uncharacterized protein C5orf60 [Gene]
ZNF346:zinc finger protein 346 [Gene - OMIM - HGNC]
ZNF354A:zinc finger protein 354A [Gene - OMIM - HGNC]
ZNF354B:zinc finger protein 354B [Gene - HGNC]
ZNF354C:zinc finger protein 354C [Gene - OMIM - HGNC]
ZNF454:zinc finger protein 454 [Gene - HGNC]
ZNF879:zinc finger protein 879 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

5q34-35.3

Genomic location:

Preferred name:

GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3

HGVS:

NC_000005.10:g.(?_164386701)_(181269805_?)dup
NC_000005.8:g.(?_163746285)_(180629412_?)dup
NC_000005.9:g.(?_163813707)_(180696806_?)dup

Links:

dbVar: nssv706222; dbVar: nsv530378

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000175420	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Jan 14, 2011)	not provided	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

SCV000175420

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Jan 14, 2011)

not provided

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, SCV000175420.4

#	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	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

ClinVar

Relating variation to medicine