GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 AND See cases

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 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:: RCV000137375.5

Allele description

GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1

Genes:

KDSR:3-ketodihydrosphingosine reductase [Gene - OMIM - HGNC]
ADNP2:ADNP homeobox 2 [Gene - OMIM - HGNC]
LOC114803473:ALPK2 eExon liver enhancer [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]
LOC130062692:ATAC-STARR-seq lymphoblastoid active region 13473 [Gene]
LOC130062693:ATAC-STARR-seq lymphoblastoid active region 13474 [Gene]
LOC130062694:ATAC-STARR-seq lymphoblastoid active region 13475 [Gene]
LOC130062695:ATAC-STARR-seq lymphoblastoid active region 13477 [Gene]
LOC130062696:ATAC-STARR-seq lymphoblastoid active region 13478 [Gene]
LOC130062697:ATAC-STARR-seq lymphoblastoid active region 13479 [Gene]
LOC130062698:ATAC-STARR-seq lymphoblastoid active region 13480 [Gene]
LOC130062701:ATAC-STARR-seq lymphoblastoid active region 13481 [Gene]
LOC130062702:ATAC-STARR-seq lymphoblastoid active region 13482 [Gene]
LOC130062703:ATAC-STARR-seq lymphoblastoid active region 13483 [Gene]
LOC130062704:ATAC-STARR-seq lymphoblastoid active region 13484 [Gene]
LOC130062706:ATAC-STARR-seq lymphoblastoid active region 13487 [Gene]
LOC130062707:ATAC-STARR-seq lymphoblastoid active region 13488 [Gene]
LOC130062708:ATAC-STARR-seq lymphoblastoid active region 13489 [Gene]
LOC130062710:ATAC-STARR-seq lymphoblastoid active region 13491 [Gene]
LOC130062711:ATAC-STARR-seq lymphoblastoid active region 13492 [Gene]
LOC130062712:ATAC-STARR-seq lymphoblastoid active region 13493 [Gene]
LOC130062713:ATAC-STARR-seq lymphoblastoid active region 13494 [Gene]
LOC130062714:ATAC-STARR-seq lymphoblastoid active region 13495 [Gene]
LOC130062716:ATAC-STARR-seq lymphoblastoid active region 13496 [Gene]
LOC130062717:ATAC-STARR-seq lymphoblastoid active region 13497 [Gene]
LOC130062718:ATAC-STARR-seq lymphoblastoid active region 13498 [Gene]
LOC130062719:ATAC-STARR-seq lymphoblastoid active region 13499 [Gene]
LOC130062720:ATAC-STARR-seq lymphoblastoid active region 13500 [Gene]
LOC130062722:ATAC-STARR-seq lymphoblastoid active region 13501 [Gene]
LOC130062723:ATAC-STARR-seq lymphoblastoid active region 13502 [Gene]
LOC130062724:ATAC-STARR-seq lymphoblastoid active region 13503 [Gene]
LOC130062725:ATAC-STARR-seq lymphoblastoid active region 13504 [Gene]
LOC130062727:ATAC-STARR-seq lymphoblastoid active region 13506 [Gene]
LOC130062729:ATAC-STARR-seq lymphoblastoid active region 13507 [Gene]
LOC130062734:ATAC-STARR-seq lymphoblastoid active region 13508 [Gene]
LOC130062735:ATAC-STARR-seq lymphoblastoid active region 13509 [Gene]
LOC130062739:ATAC-STARR-seq lymphoblastoid active region 13510 [Gene]
LOC130062740:ATAC-STARR-seq lymphoblastoid active region 13512 [Gene]
LOC130062742:ATAC-STARR-seq lymphoblastoid active region 13513 [Gene]
LOC130062744:ATAC-STARR-seq lymphoblastoid active region 13514 [Gene]
LOC130062745:ATAC-STARR-seq lymphoblastoid active region 13515 [Gene]
LOC130062749:ATAC-STARR-seq lymphoblastoid active region 13516 [Gene]
LOC130062750:ATAC-STARR-seq lymphoblastoid active region 13521 [Gene]
LOC130062751:ATAC-STARR-seq lymphoblastoid active region 13522 [Gene]
LOC130062752:ATAC-STARR-seq lymphoblastoid active region 13523 [Gene]
LOC130062753:ATAC-STARR-seq lymphoblastoid active region 13524 [Gene]
LOC130062754:ATAC-STARR-seq lymphoblastoid active region 13526 [Gene]
LOC130062755:ATAC-STARR-seq lymphoblastoid active region 13527 [Gene]
LOC130062757:ATAC-STARR-seq lymphoblastoid active region 13528 [Gene]
LOC130062758:ATAC-STARR-seq lymphoblastoid active region 13529 [Gene]
LOC130062759:ATAC-STARR-seq lymphoblastoid active region 13530 [Gene]
LOC130062760:ATAC-STARR-seq lymphoblastoid active region 13531 [Gene]
LOC130062761:ATAC-STARR-seq lymphoblastoid active region 13532 [Gene]
LOC130062762:ATAC-STARR-seq lymphoblastoid active region 13533 [Gene]
LOC130062764:ATAC-STARR-seq lymphoblastoid active region 13534 [Gene]
LOC130062765:ATAC-STARR-seq lymphoblastoid active region 13535 [Gene]
LOC130062768:ATAC-STARR-seq lymphoblastoid active region 13536 [Gene]
LOC130062771:ATAC-STARR-seq lymphoblastoid active region 13537 [Gene]
LOC130062773:ATAC-STARR-seq lymphoblastoid active region 13538 [Gene]
LOC130062777:ATAC-STARR-seq lymphoblastoid active region 13539 [Gene]
LOC130062778:ATAC-STARR-seq lymphoblastoid active region 13540 [Gene]
LOC130062780:ATAC-STARR-seq lymphoblastoid active region 13541 [Gene]
LOC130062781:ATAC-STARR-seq lymphoblastoid active region 13542 [Gene]
LOC130062782:ATAC-STARR-seq lymphoblastoid active region 13543 [Gene]
LOC130062783:ATAC-STARR-seq lymphoblastoid active region 13544 [Gene]
LOC130062785:ATAC-STARR-seq lymphoblastoid active region 13545 [Gene]
LOC130062792:ATAC-STARR-seq lymphoblastoid active region 13547 [Gene]
LOC130062799:ATAC-STARR-seq lymphoblastoid active region 13548 [Gene]
LOC130062802:ATAC-STARR-seq lymphoblastoid active region 13549 [Gene]
LOC130062803:ATAC-STARR-seq lymphoblastoid active region 13550 [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]
LOC130062689:ATAC-STARR-seq lymphoblastoid silent region 9535 [Gene]
LOC130062690:ATAC-STARR-seq lymphoblastoid silent region 9536 [Gene]
LOC130062691:ATAC-STARR-seq lymphoblastoid silent region 9537 [Gene]
LOC130062699:ATAC-STARR-seq lymphoblastoid silent region 9538 [Gene]
LOC130062700:ATAC-STARR-seq lymphoblastoid silent region 9539 [Gene]
LOC130062705:ATAC-STARR-seq lymphoblastoid silent region 9540 [Gene]
LOC130062709:ATAC-STARR-seq lymphoblastoid silent region 9541 [Gene]
LOC130062715:ATAC-STARR-seq lymphoblastoid silent region 9542 [Gene]
LOC130062721:ATAC-STARR-seq lymphoblastoid silent region 9545 [Gene]
LOC130062726:ATAC-STARR-seq lymphoblastoid silent region 9549 [Gene]
LOC130062728:ATAC-STARR-seq lymphoblastoid silent region 9550 [Gene]
LOC130062730:ATAC-STARR-seq lymphoblastoid silent region 9551 [Gene]
LOC130062731:ATAC-STARR-seq lymphoblastoid silent region 9552 [Gene]
LOC130062732:ATAC-STARR-seq lymphoblastoid silent region 9553 [Gene]
LOC130062733:ATAC-STARR-seq lymphoblastoid silent region 9554 [Gene]
LOC130062736:ATAC-STARR-seq lymphoblastoid silent region 9555 [Gene]
LOC130062737:ATAC-STARR-seq lymphoblastoid silent region 9556 [Gene]
LOC130062738:ATAC-STARR-seq lymphoblastoid silent region 9557 [Gene]
LOC130062741:ATAC-STARR-seq lymphoblastoid silent region 9558 [Gene]
LOC130062743:ATAC-STARR-seq lymphoblastoid silent region 9559 [Gene]
LOC130062746:ATAC-STARR-seq lymphoblastoid silent region 9560 [Gene]
LOC130062747:ATAC-STARR-seq lymphoblastoid silent region 9561 [Gene]
LOC130062748:ATAC-STARR-seq lymphoblastoid silent region 9562 [Gene]
LOC130062756:ATAC-STARR-seq lymphoblastoid silent region 9563 [Gene]
LOC130062763:ATAC-STARR-seq lymphoblastoid silent region 9564 [Gene]
LOC130062766:ATAC-STARR-seq lymphoblastoid silent region 9565 [Gene]
LOC130062767:ATAC-STARR-seq lymphoblastoid silent region 9566 [Gene]
LOC130062769:ATAC-STARR-seq lymphoblastoid silent region 9568 [Gene]
LOC130062770:ATAC-STARR-seq lymphoblastoid silent region 9569 [Gene]
LOC130062772:ATAC-STARR-seq lymphoblastoid silent region 9570 [Gene]
LOC130062774:ATAC-STARR-seq lymphoblastoid silent region 9571 [Gene]
LOC130062775:ATAC-STARR-seq lymphoblastoid silent region 9573 [Gene]
LOC130062776:ATAC-STARR-seq lymphoblastoid silent region 9574 [Gene]
LOC130062779:ATAC-STARR-seq lymphoblastoid silent region 9575 [Gene]
LOC130062784:ATAC-STARR-seq lymphoblastoid silent region 9576 [Gene]
LOC130062786:ATAC-STARR-seq lymphoblastoid silent region 9578 [Gene]
LOC130062787:ATAC-STARR-seq lymphoblastoid silent region 9579 [Gene]
LOC130062788:ATAC-STARR-seq lymphoblastoid silent region 9580 [Gene]
LOC130062789:ATAC-STARR-seq lymphoblastoid silent region 9581 [Gene]
LOC130062790:ATAC-STARR-seq lymphoblastoid silent region 9582 [Gene]
LOC130062791:ATAC-STARR-seq lymphoblastoid silent region 9583 [Gene]
LOC130062793:ATAC-STARR-seq lymphoblastoid silent region 9584 [Gene]
LOC130062794:ATAC-STARR-seq lymphoblastoid silent region 9585 [Gene]
LOC130062795:ATAC-STARR-seq lymphoblastoid silent region 9586 [Gene]
LOC130062796:ATAC-STARR-seq lymphoblastoid silent region 9587 [Gene]
LOC130062797:ATAC-STARR-seq lymphoblastoid silent region 9589 [Gene]
LOC130062798:ATAC-STARR-seq lymphoblastoid silent region 9590 [Gene]
LOC130062800:ATAC-STARR-seq lymphoblastoid silent region 9592 [Gene]
LOC130062801:ATAC-STARR-seq lymphoblastoid silent region 9593 [Gene]
LOC130062804:ATAC-STARR-seq lymphoblastoid silent region 9594 [Gene]
LOC130062805:ATAC-STARR-seq lymphoblastoid silent region 9595 [Gene]
ATP8B1-AS1:ATP8B1 antisense RNA 1 [Gene - HGNC]
ATP8B1:ATPase phospholipid transporting 8B1 [Gene - OMIM - HGNC]
ATP9B:ATPase phospholipid transporting 9B (putative) [Gene - OMIM - HGNC]
BCL2:BCL2 apoptosis regulator [Gene - OMIM - HGNC]
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]
LOC126862788:BRD4-independent group 4 enhancer GRCh37_chr18:68781710-68782909 [Gene]
LOC126862789:BRD4-independent group 4 enhancer GRCh37_chr18:69673999-69675198 [Gene]
LOC126862796:BRD4-independent group 4 enhancer GRCh37_chr18:71817752-71818951 [Gene]
LOC126862797:BRD4-independent group 4 enhancer GRCh37_chr18:71822138-71823337 [Gene]
LOC126862799:BRD4-independent group 4 enhancer GRCh37_chr18:72517901-72519100 [Gene]
LOC126862802:BRD4-independent group 4 enhancer GRCh37_chr18:72947291-72948490 [Gene]
LOC126862804:BRD4-independent group 4 enhancer GRCh37_chr18:73141751-73142950 [Gene]
LOC126862806:BRD4-independent group 4 enhancer GRCh37_chr18:73337297-73338496 [Gene]
LOC126862809:BRD4-independent group 4 enhancer GRCh37_chr18:73843050-73844249 [Gene]
LOC126862813:BRD4-independent group 4 enhancer GRCh37_chr18:74748403-74749602 [Gene]
LOC126862818:BRD4-independent group 4 enhancer GRCh37_chr18:75535169-75536368 [Gene]
LOC126862823:BRD4-independent group 4 enhancer GRCh37_chr18:76336458-76337657 [Gene]
LOC126862826:BRD4-independent group 4 enhancer GRCh37_chr18:76610953-76612152 [Gene]
LOC126862827:BRD4-independent group 4 enhancer GRCh37_chr18:76669815-76671014 [Gene]
LOC126862829:BRD4-independent group 4 enhancer GRCh37_chr18:76766909-76768108 [Gene]
LOC126862833:BRD4-independent group 4 enhancer GRCh37_chr18:77585975-77587174 [Gene]
LOC126862834:BRD4-independent group 4 enhancer GRCh37_chr18:77808538-77809737 [Gene]
CD226:CD226 molecule [Gene - OMIM - HGNC]
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]
LOC126862791:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:70916635-70917834 [Gene]
LOC126862792:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:71230790-71231989 [Gene]
LOC126862794:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:71382077-71383276 [Gene]
LOC126862812:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:74700218-74701417 [Gene]
LOC126862817:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:75115171-75116370 [Gene]
LOC126862820:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:75936086-75937285 [Gene]
LOC126862822:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:76302140-76303339 [Gene]
LOC126862825:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:76406811-76408010 [Gene]
LOC126862832:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:77330216-77331415 [Gene]
LOC129456126:CRISPR/Cas9-targeted silencer 8 [Gene]
LOC116276491:CRISPRi-validated cis-regulatory element chr18.1280 [Gene]
LOC116276492:CRISPRi-validated cis-regulatory element chr18.1476 [Gene]
CTDP1:CTD phosphatase subunit 1 [Gene - OMIM - HGNC]
CTDP1-DT:CTDP1 divergent transcript [Gene - HGNC]
DSEL-AS1:DSEL antisense RNA 1 [Gene - HGNC]
FBXO15:F-box protein 15 [Gene - OMIM - HGNC]
LOC111365201:FOXA motif-containing MPRA enhancer 78 [Gene]
GTSCR1:Gilles de la Tourette syndrome chromosome region, candidate 1 [Gene - HGNC]
KDSR-DT:KDSR divergent transcript [Gene - HGNC]
MALT1-AS1:MALT1 antisense RNA 1 [Gene - HGNC]
MALT1:MALT1 paracaspase [Gene - OMIM - HGNC]
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]
LOC126862783:MED14-independent group 3 enhancer GRCh37_chr18:66103358-66104557 [Gene]
LOC126862785:MED14-independent group 3 enhancer GRCh37_chr18:67714790-67715989 [Gene]
LOC112543433:MED14-independent group 3 enhancer GRCh37_chr18:68004081-68005280 [Gene]
LOC126862787:MED14-independent group 3 enhancer GRCh37_chr18:68051227-68052426 [Gene]
LOC126862790:MED14-independent group 3 enhancer GRCh37_chr18:70100942-70102141 [Gene]
LOC126862793:MED14-independent group 3 enhancer GRCh37_chr18:71362654-71363853 [Gene]
LOC126862798:MED14-independent group 3 enhancer GRCh37_chr18:72345358-72346557 [Gene]
LOC126862807:MED14-independent group 3 enhancer GRCh37_chr18:73423789-73424988 [Gene]
LOC126862808:MED14-independent group 3 enhancer GRCh37_chr18:73766732-73767931 [Gene]
LOC126862810:MED14-independent group 3 enhancer GRCh37_chr18:73920680-73921879 [Gene]
LOC126862811:MED14-independent group 3 enhancer GRCh37_chr18:74188803-74190002 [Gene]
LOC126862814:MED14-independent group 3 enhancer GRCh37_chr18:74776675-74777874 [Gene]
LOC126862815:MED14-independent group 3 enhancer GRCh37_chr18:74938546-74939745 [Gene]
LOC126862816:MED14-independent group 3 enhancer GRCh37_chr18:75065347-75066546 [Gene]
LOC126862819:MED14-independent group 3 enhancer GRCh37_chr18:75844334-75845533 [Gene]
LOC126862828:MED14-independent group 3 enhancer GRCh37_chr18:76686389-76687588 [Gene]
LOC126862830:MED14-independent group 3 enhancer GRCh37_chr18:77005320-77006519 [Gene]
MIR122HG:MIR122 host gene [Gene - HGNC]
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]
LOC129391004:MPRA-validated peak3178 silencer [Gene]
LOC129391005:MPRA-validated peak3184 silencer [Gene]
LOC129391006:MPRA-validated peak3188 silencer [Gene]
LOC129391007:MPRA-validated peak3193 silencer [Gene]
LOC129391008:MPRA-validated peak3194 silencer [Gene]
NEDD4L:NEDD4 like E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
NETO1-DT:NETO1 divergent transcript [Gene - HGNC]
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]
LOC132090506:Neanderthal introgressed variant-containing enhancer experimental_49334 [Gene]
LOC132090507:Neanderthal introgressed variant-containing enhancer experimental_49336 [Gene]
LOC132090508:Neanderthal introgressed variant-containing enhancer experimental_49392 [Gene]
LOC132090509:Neanderthal introgressed variant-containing enhancer experimental_49413 [Gene]
LOC132090510:Neanderthal introgressed variant-containing enhancer experimental_49614 [Gene]
LOC132090511:Neanderthal introgressed variant-containing enhancer experimental_49625 [Gene]
LOC132090512:Neanderthal introgressed variant-containing enhancer experimental_49782 [Gene]
LOC132090513:Neanderthal introgressed variant-containing enhancer experimental_49950 [Gene]
LOC132090514:Neanderthal introgressed variant-containing enhancer experimental_49980 [Gene]
LOC132090515:Neanderthal introgressed variant-containing enhancer experimental_49987 [Gene]
LOC132090516:Neanderthal introgressed variant-containing enhancer experimental_50021 [Gene]
LOC132090517:Neanderthal introgressed variant-containing enhancer experimental_50059 [Gene]
LOC132090518:Neanderthal introgressed variant-containing enhancer experimental_50247 [Gene]
LOC132090900:Neanderthal introgressed variant-containing enhancer experimental_50263 [Gene]
LOC132090519:Neanderthal introgressed variant-containing enhancer experimental_50279 [Gene]
LOC132090520:Neanderthal introgressed variant-containing enhancer experimental_50293 [Gene]
LOC132090521:Neanderthal introgressed variant-containing enhancer experimental_50301 [Gene]
LOC132090522:Neanderthal introgressed variant-containing enhancer experimental_50303 [Gene]
LOC132090523:Neanderthal introgressed variant-containing enhancer experimental_50307 [Gene]
LOC132090524:Neanderthal introgressed variant-containing enhancer experimental_50330 [Gene]
LOC132090525:Neanderthal introgressed variant-containing enhancer experimental_50334 [Gene]
LOC132090526:Neanderthal introgressed variant-containing enhancer experimental_50341 [Gene]
LOC132090527:Neanderthal introgressed variant-containing enhancer experimental_50347 [Gene]
LOC132090528:Neanderthal introgressed variant-containing enhancer experimental_50380 [Gene]
LOC132090529:Neanderthal introgressed variant-containing enhancer experimental_50500 [Gene]
LOC132090530:Neanderthal introgressed variant-containing enhancer experimental_50638 [Gene]
LOC132090901:Neanderthal introgressed variant-containing enhancer experimental_50709 [Gene]
LOC132211113:Neanderthal introgressed variant-containing enhancers experimental_48194 and experimental_48198 [Gene]
LOC132211114:Neanderthal introgressed variant-containing enhancers experimental_50353 and experimental_50354 [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]
LOC126862781:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:63326730-63327929 [Gene]
LOC126862782:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:63547268-63548467 [Gene]
LOC126862784:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:67602408-67603607 [Gene]
LOC126862786:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:68024559-68025758 [Gene]
LOC126862795:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:71384186-71385385 [Gene]
LOC126862800:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:72641053-72642252 [Gene]
LOC126862801:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:72782275-72783474 [Gene]
LOC126862803:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:73120415-73121614 [Gene]
LOC126862805:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:73201370-73202569 [Gene]
LOC126862821:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:76254093-76255292 [Gene]
LOC126862824:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:76391650-76392849 [Gene]
LOC126862831:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:77121413-77122612 [Gene]
PARD6G-AS1:PARD6G antisense RNA 1 [Gene - HGNC]
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]
RBFADN:RBFA downstream neighbor [Gene - HGNC]
SEC11C:SEC11 homolog C, signal peptidase complex subunit [Gene - HGNC]
ST8SIA3:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 [Gene - OMIM - HGNC]
LOC121852970:Sharpr-MPRA regulatory region 1017 [Gene]
LOC112543428:Sharpr-MPRA regulatory region 10710 [Gene]
LOC125371443:Sharpr-MPRA regulatory region 11655 [Gene]
LOC121627839:Sharpr-MPRA regulatory region 12176 [Gene]
LOC125371436:Sharpr-MPRA regulatory region 1275 [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]
LOC125371442:Sharpr-MPRA regulatory region 1467 [Gene]
LOC125371435:Sharpr-MPRA regulatory region 15585 [Gene]
LOC121627841:Sharpr-MPRA regulatory region 15651 [Gene]
LOC125371432:Sharpr-MPRA regulatory region 1890 [Gene]
LOC121852968:Sharpr-MPRA regulatory region 3246 [Gene]
LOC121627836:Sharpr-MPRA regulatory region 3365 [Gene]
LOC121852969:Sharpr-MPRA regulatory region 3490 [Gene]
LOC121627840:Sharpr-MPRA regulatory region 3936 [Gene]
LOC112543430:Sharpr-MPRA regulatory region 4133 [Gene]
LOC121627833:Sharpr-MPRA regulatory region 4588 [Gene]
LOC125371431:Sharpr-MPRA regulatory region 466 [Gene]
LOC112543429:Sharpr-MPRA regulatory region 4888 [Gene]
LOC125371429:Sharpr-MPRA regulatory region 539 [Gene]
LOC121627832:Sharpr-MPRA regulatory region 5538 [Gene]
LOC125371434:Sharpr-MPRA regulatory region 560 [Gene]
LOC125371438:Sharpr-MPRA regulatory region 7597 [Gene]
LOC121627834:Sharpr-MPRA regulatory region 7810 [Gene]
LOC125371440:Sharpr-MPRA regulatory region 8201 [Gene]
LOC125371430:Sharpr-MPRA regulatory region 8690 [Gene]
LOC125371433:Sharpr-MPRA regulatory region 9182 [Gene]
LOC125371441:Sharpr-MPRA regulatory region 926 [Gene]
LOC121627838:Sharpr-MPRA regulatory region 9472 [Gene]
LOC125371439:Sharpr-MPRA regulatory region 9768 [Gene]
LOC112543432:Sharpr-MPRA regulatory region 9998 [Gene]
TCF4-AS1:TCF4 antisense RNA 1 [Gene - HGNC]
TNFRSF11A:TNF receptor superfamily member 11a [Gene - OMIM - HGNC]
LOC110121312:VISTA enhancer hs1011 [Gene]
LOC110121314:VISTA enhancer hs1020 [Gene]
LOC110121318:VISTA enhancer hs1056 [Gene]
LOC110121330:VISTA enhancer hs1186 [Gene]
LOC110121361:VISTA enhancer hs1397 [Gene]
LOC110121390:VISTA enhancer hs1537 [Gene]
LOC110120867:VISTA enhancer hs376 [Gene]
LOC110120868:VISTA enhancer hs378 [Gene]
LOC110120915:VISTA enhancer hs634 [Gene]
LOC110120931:VISTA enhancer hs775 [Gene]
LOC110120935:VISTA enhancer hs824 [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]
ZNF236-DT:ZNF236 divergent transcript [Gene - HGNC]
ZNF407-AS1:ZNF407 antisense RNA 1 [Gene - HGNC]
ZNF516-AS1:ZNF516 antisense RNA 1 [Gene - HGNC]
ZNF516-DT:ZNF516 divergent transcript [Gene - HGNC]
ALPK2:alpha kinase 2 [Gene - OMIM - HGNC]
NARS1:asparaginyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
BOD1L2:biorientation of chromosomes in cell division 1 like 2 [Gene - HGNC]
CDH19:cadherin 19 [Gene - OMIM - HGNC]
CDH20:cadherin 20 [Gene - OMIM - HGNC]
CDH7:cadherin 7 [Gene - OMIM - HGNC]
CNDP1:carnosine dipeptidase 1 [Gene - OMIM - HGNC]
CNDP2:carnosine dipeptidase 2 [Gene - OMIM - HGNC]
CBLN2:cerebellin 2 precursor [Gene - OMIM - HGNC]
LOC107992389:chr18 t(4;18)(q35;q18) HERV-H recombination region [Gene]
C18orf63:chromosome 18 open reading frame 63 [Gene - HGNC]
CCDC102B:coiled-coil domain containing 102B [Gene - HGNC]
CCBE1:collagen and calcium binding EGF domains 1 [Gene - OMIM - HGNC]
CPLX4:complexin 4 [Gene - OMIM - HGNC]
CYB5A:cytochrome b5 type A [Gene - OMIM - HGNC]
DSEL:dermatan sulfate epimerase like [Gene - OMIM - HGNC]
DIPK1C:divergent protein kinase domain 1C [Gene - OMIM - HGNC]
DOK6:docking protein 6 [Gene - OMIM - HGNC]
FECH:ferrochelatase [Gene - OMIM - HGNC]
GALR1:galanin receptor 1 [Gene - OMIM - HGNC]
GRP:gastrin releasing peptide [Gene - OMIM - HGNC]
HSBP1L1:heat shock factor binding protein 1 like 1 [Gene - HGNC]
HMSD:histocompatibility minor serpin domain containing [Gene - OMIM - HGNC]
LMAN1:lectin, mannose binding 1 [Gene - OMIM - HGNC]
LIVAR:liver cell viability associated lncRNA [Gene - HGNC]
LINC01029:long intergenic non-protein coding RNA 1029 [Gene - HGNC]
LINC01415:long intergenic non-protein coding RNA 1415 [Gene - HGNC]
LINC01416:long intergenic non-protein coding RNA 1416 [Gene - HGNC]
LINC01538:long intergenic non-protein coding RNA 1538 [Gene - HGNC]
LINC01539:long intergenic non-protein coding RNA 1539 [Gene - HGNC]
LINC01541:long intergenic non-protein coding RNA 1541 [Gene - HGNC]
LINC01544:long intergenic non-protein coding RNA 1544 [Gene - HGNC]
LINC01879:long intergenic non-protein coding RNA 1879 [Gene - HGNC]
LINC01893:long intergenic non-protein coding RNA 1893 [Gene - HGNC]
LINC01896:long intergenic non-protein coding RNA 1896 [Gene - HGNC]
LINC01897:long intergenic non-protein coding RNA 1897 [Gene - HGNC]
LINC01898:long intergenic non-protein coding RNA 1898 [Gene - HGNC]
LINC01899:long intergenic non-protein coding RNA 1899 [Gene - HGNC]
LINC01903:long intergenic non-protein coding RNA 1903 [Gene - HGNC]
LINC01905:long intergenic non-protein coding RNA 1905 [Gene - HGNC]
LINC01909:long intergenic non-protein coding RNA 1909 [Gene - HGNC]
LINC01910:long intergenic non-protein coding RNA 1910 [Gene - HGNC]
LINC01912:long intergenic non-protein coding RNA 1912 [Gene - HGNC]
LINC01922:long intergenic non-protein coding RNA 1922 [Gene - HGNC]
LINC01924:long intergenic non-protein coding RNA 1924 [Gene - HGNC]
LINC01926:long intergenic non-protein coding RNA 1926 [Gene - HGNC]
LINC01927:long intergenic non-protein coding RNA 1927 [Gene - HGNC]
LINC02565:long intergenic non-protein coding RNA 2565 [Gene - HGNC]
LINC02582:long intergenic non-protein coding RNA 2582 [Gene - HGNC]
LINC02864:long intergenic non-protein coding RNA 2864 [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]
LINC00683:long intergenic non-protein coding RNA 683 [Gene - HGNC]
LINC00908:long intergenic non-protein coding RNA 908 [Gene - HGNC]
LINC-ROR:long intergenic non-protein coding RNA, regulator of reprogramming [Gene - OMIM - HGNC]
LOC107457587:meiotic recombination hotspot L [Gene]
LOC107457597:meiotic recombination hotspot N [Gene]
MC4R:melanocortin 4 receptor [Gene - OMIM - HGNC]
MIR122:microRNA 122 [Gene - OMIM - HGNC]
MIR3591:microRNA 3591 [Gene - HGNC]
MIR4529:microRNA 4529 [Gene - HGNC]
MIR5011:microRNA 5011 [Gene - HGNC]
MIR548AV:microRNA 548av [Gene - HGNC]
MBP:myelin basic protein [Gene - OMIM - HGNC]
NETO1:neuropilin and tolloid like 1 [Gene - OMIM - HGNC]
NFATC1:nuclear factor of activated T cells 1 [Gene - OMIM - HGNC]
LOC124904333:octapeptide-repeat protein T2 [Gene]
ONECUT2:one cut homeobox 2 [Gene - OMIM - HGNC]
PARD6G:par-6 family cell polarity regulator gamma [Gene - OMIM - HGNC]
PMAIP1:phorbol-12-myristate-13-acetate-induced protein 1 [Gene - OMIM - HGNC]
PIGN:phosphatidylinositol glycan anchor biosynthesis class N [Gene - OMIM - HGNC]
KCNG2:potassium voltage-gated channel modifier subfamily G member 2 [Gene - OMIM - HGNC]
PTGR3:prostaglandin reductase 3 [Gene - HGNC]
RAX:retina and anterior neural fold homeobox [Gene - OMIM - HGNC]
RBFA:ribosome binding factor A [Gene - HGNC]
RNF152:ring finger protein 152 [Gene - OMIM - HGNC]
RTTN:rotatin [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]
SMIM21:small integral membrane protein 21 [Gene - HGNC]
SNORA108:small nucleolar RNA, H/ACA box 108 [Gene - HGNC]
SLC66A2:solute carrier family 66 member 2 [Gene - HGNC]
SALL3:spalt like transcription factor 3 [Gene - OMIM - HGNC]
SOCS6:suppressor of cytokine signaling 6 [Gene - OMIM - HGNC]
TSHZ1:teashirt zinc finger homeobox 1 [Gene - OMIM - HGNC]
TXNL1:thioredoxin like 1 [Gene - OMIM - HGNC]
TXNL4A:thioredoxin like 4A [Gene - OMIM - HGNC]
TMX3:thioredoxin related transmembrane protein 3 [Gene - OMIM - HGNC]
LOC109609705:transcription factor 4 repeat instability region [Gene]
TCF4:transcription factor 4 [Gene - OMIM - HGNC]
TIMM21:translocase of inner mitochondrial membrane 21 [Gene - OMIM - HGNC]
LOC105372143:uncharacterized LOC105372143 [Gene]
LOC105372145:uncharacterized LOC105372145 [Gene]
LOC105372155:uncharacterized LOC105372155 [Gene]
LOC105372173:uncharacterized LOC105372173 [Gene]
LOC105372179:uncharacterized LOC105372179 [Gene]
LOC105372187:uncharacterized LOC105372187 [Gene]
LOC105372228:uncharacterized LOC105372228 [Gene]
LOC284240:uncharacterized LOC284240 [Gene]
LOC339298:uncharacterized LOC339298 [Gene]
VPS4B:vacuolar protein sorting 4 homolog B [Gene - OMIM - HGNC]
ZCCHC2:zinc finger CCHC-type containing 2 [Gene - OMIM - HGNC]
ZNF236:zinc finger protein 236 [Gene - OMIM - HGNC]
ZNF407:zinc finger protein 407 [Gene - OMIM - HGNC]
ZNF516:zinc finger protein 516 [Gene - OMIM - HGNC]
ZNF532:zinc finger protein 532 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

18q21.2-23

Genomic location:

Preferred name:

GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1

HGVS:

NC_000018.10:g.(?_55179364)_(80254946_?)del
NC_000018.8:g.(?_50997593)_(76113817_?)del
NC_000018.9:g.(?_52846595)_(78012829_?)del

Links:

dbVar: nssv1415200; dbVar: nsv817303

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
SCV000177595	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Apr 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

SCV000177595

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Apr 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
not provided	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, SCV000177595.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	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