GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 29, 2013
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:: RCV000141742.5

Allele description [Variation Report for GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)]

GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)

Genes:

ALAS2:5'-aminolevulinate synthase 2 [Gene - OMIM - HGNC]
HTR2C:5-hydroxytryptamine receptor 2C [Gene - OMIM - HGNC]
PFKFB1:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 [Gene - OMIM - HGNC]
ARL13A:ADP ribosylation factor like GTPase 13A [Gene - HGNC]
LOC108663984:ALAS2 intron 1 and 3 erythroid regulatory elements [Gene]
LOC108511947:ALAS2 intronic erythroid enhancer [Gene]
ALG13:ALG13 UDP-N-acetylglucosaminyltransferase subunit [Gene - OMIM - HGNC]
AMMECR1:AMMECR nuclear protein 1 [Gene - OMIM - HGNC]
AMER1:APC membrane recruitment protein 1 [Gene - OMIM - HGNC]
ARHGEF9-IT1:ARHGEF9 intronic transcript 1 [Gene - HGNC]
ARMCX3-AS1:ARMCX3 antisense RNA 1 [Gene - HGNC]
ARMCX5-GPRASP2:ARMCX5-GPRASP2 readthrough [Gene - HGNC]
LOC130068290:ATAC-STARR-seq lymphoblastoid active region 29639 [Gene]
LOC130068291:ATAC-STARR-seq lymphoblastoid active region 29640 [Gene]
LOC130068292:ATAC-STARR-seq lymphoblastoid active region 29641 [Gene]
LOC130068293:ATAC-STARR-seq lymphoblastoid active region 29642 [Gene]
LOC130068294:ATAC-STARR-seq lymphoblastoid active region 29644 [Gene]
LOC130068295:ATAC-STARR-seq lymphoblastoid active region 29646 [Gene]
LOC130068296:ATAC-STARR-seq lymphoblastoid active region 29647 [Gene]
LOC130068297:ATAC-STARR-seq lymphoblastoid active region 29648 [Gene]
LOC130068298:ATAC-STARR-seq lymphoblastoid active region 29649 [Gene]
LOC130068299:ATAC-STARR-seq lymphoblastoid active region 29651 [Gene]
LOC130068303:ATAC-STARR-seq lymphoblastoid active region 29653 [Gene]
LOC130068306:ATAC-STARR-seq lymphoblastoid active region 29654 [Gene]
LOC130068307:ATAC-STARR-seq lymphoblastoid active region 29655 [Gene]
LOC130068308:ATAC-STARR-seq lymphoblastoid active region 29656 [Gene]
LOC130068311:ATAC-STARR-seq lymphoblastoid active region 29663 [Gene]
LOC130068313:ATAC-STARR-seq lymphoblastoid active region 29664 [Gene]
LOC130068314:ATAC-STARR-seq lymphoblastoid active region 29665 [Gene]
LOC130068315:ATAC-STARR-seq lymphoblastoid active region 29666 [Gene]
LOC130068316:ATAC-STARR-seq lymphoblastoid active region 29667 [Gene]
LOC130068317:ATAC-STARR-seq lymphoblastoid active region 29668 [Gene]
LOC130068319:ATAC-STARR-seq lymphoblastoid active region 29669 [Gene]
LOC130068323:ATAC-STARR-seq lymphoblastoid active region 29670 [Gene]
LOC130068325:ATAC-STARR-seq lymphoblastoid active region 29672 [Gene]
LOC130068326:ATAC-STARR-seq lymphoblastoid active region 29673 [Gene]
LOC130068327:ATAC-STARR-seq lymphoblastoid active region 29675 [Gene]
LOC130068329:ATAC-STARR-seq lymphoblastoid active region 29677 [Gene]
LOC130068330:ATAC-STARR-seq lymphoblastoid active region 29678 [Gene]
LOC130068331:ATAC-STARR-seq lymphoblastoid active region 29680 [Gene]
LOC130068333:ATAC-STARR-seq lymphoblastoid active region 29681 [Gene]
LOC130068334:ATAC-STARR-seq lymphoblastoid active region 29682 [Gene]
LOC130068336:ATAC-STARR-seq lymphoblastoid active region 29683 [Gene]
LOC130068337:ATAC-STARR-seq lymphoblastoid active region 29684 [Gene]
LOC130068338:ATAC-STARR-seq lymphoblastoid active region 29686 [Gene]
LOC130068339:ATAC-STARR-seq lymphoblastoid active region 29687 [Gene]
LOC130068340:ATAC-STARR-seq lymphoblastoid active region 29688 [Gene]
LOC130068341:ATAC-STARR-seq lymphoblastoid active region 29689 [Gene]
LOC130068343:ATAC-STARR-seq lymphoblastoid active region 29690 [Gene]
LOC130068344:ATAC-STARR-seq lymphoblastoid active region 29691 [Gene]
LOC130068345:ATAC-STARR-seq lymphoblastoid active region 29693 [Gene]
LOC130068346:ATAC-STARR-seq lymphoblastoid active region 29694 [Gene]
LOC130068347:ATAC-STARR-seq lymphoblastoid active region 29695 [Gene]
LOC130068348:ATAC-STARR-seq lymphoblastoid active region 29696 [Gene]
LOC130068349:ATAC-STARR-seq lymphoblastoid active region 29697 [Gene]
LOC130068350:ATAC-STARR-seq lymphoblastoid active region 29698 [Gene]
LOC130068351:ATAC-STARR-seq lymphoblastoid active region 29699 [Gene]
LOC130068352:ATAC-STARR-seq lymphoblastoid active region 29700 [Gene]
LOC130068353:ATAC-STARR-seq lymphoblastoid active region 29701 [Gene]
LOC130068355:ATAC-STARR-seq lymphoblastoid active region 29702 [Gene]
LOC130068359:ATAC-STARR-seq lymphoblastoid active region 29703 [Gene]
LOC130068360:ATAC-STARR-seq lymphoblastoid active region 29704 [Gene]
LOC130068361:ATAC-STARR-seq lymphoblastoid active region 29705 [Gene]
LOC130068362:ATAC-STARR-seq lymphoblastoid active region 29706 [Gene]
LOC130068363:ATAC-STARR-seq lymphoblastoid active region 29707 [Gene]
LOC130068368:ATAC-STARR-seq lymphoblastoid active region 29708 [Gene]
LOC130068369:ATAC-STARR-seq lymphoblastoid active region 29709 [Gene]
LOC130068370:ATAC-STARR-seq lymphoblastoid active region 29710 [Gene]
LOC130068371:ATAC-STARR-seq lymphoblastoid active region 29711 [Gene]
LOC130068374:ATAC-STARR-seq lymphoblastoid active region 29712 [Gene]
LOC130068375:ATAC-STARR-seq lymphoblastoid active region 29713 [Gene]
LOC130068376:ATAC-STARR-seq lymphoblastoid active region 29714 [Gene]
LOC130068379:ATAC-STARR-seq lymphoblastoid active region 29715 [Gene]
LOC130068380:ATAC-STARR-seq lymphoblastoid active region 29716 [Gene]
LOC130068381:ATAC-STARR-seq lymphoblastoid active region 29717 [Gene]
LOC130068383:ATAC-STARR-seq lymphoblastoid active region 29718 [Gene]
LOC130068384:ATAC-STARR-seq lymphoblastoid active region 29719 [Gene]
LOC130068385:ATAC-STARR-seq lymphoblastoid active region 29720 [Gene]
LOC130068386:ATAC-STARR-seq lymphoblastoid active region 29721 [Gene]
LOC130068388:ATAC-STARR-seq lymphoblastoid active region 29722 [Gene]
LOC130068389:ATAC-STARR-seq lymphoblastoid active region 29723 [Gene]
LOC130068390:ATAC-STARR-seq lymphoblastoid active region 29724 [Gene]
LOC130068393:ATAC-STARR-seq lymphoblastoid active region 29727 [Gene]
LOC130068396:ATAC-STARR-seq lymphoblastoid active region 29728 [Gene]
LOC130068397:ATAC-STARR-seq lymphoblastoid active region 29729 [Gene]
LOC130068398:ATAC-STARR-seq lymphoblastoid active region 29730 [Gene]
LOC130068400:ATAC-STARR-seq lymphoblastoid active region 29731 [Gene]
LOC130068402:ATAC-STARR-seq lymphoblastoid active region 29732 [Gene]
LOC130068403:ATAC-STARR-seq lymphoblastoid active region 29733 [Gene]
LOC130068406:ATAC-STARR-seq lymphoblastoid active region 29734 [Gene]
LOC130068407:ATAC-STARR-seq lymphoblastoid active region 29735 [Gene]
LOC130068408:ATAC-STARR-seq lymphoblastoid active region 29736 [Gene]
LOC130068409:ATAC-STARR-seq lymphoblastoid active region 29738 [Gene]
LOC130068410:ATAC-STARR-seq lymphoblastoid active region 29739 [Gene]
LOC130068411:ATAC-STARR-seq lymphoblastoid active region 29740 [Gene]
LOC130068412:ATAC-STARR-seq lymphoblastoid active region 29741 [Gene]
LOC130068415:ATAC-STARR-seq lymphoblastoid active region 29742 [Gene]
LOC130068417:ATAC-STARR-seq lymphoblastoid active region 29743 [Gene]
LOC130068419:ATAC-STARR-seq lymphoblastoid active region 29745 [Gene]
LOC130068420:ATAC-STARR-seq lymphoblastoid active region 29746 [Gene]
LOC130068421:ATAC-STARR-seq lymphoblastoid active region 29747 [Gene]
LOC130068422:ATAC-STARR-seq lymphoblastoid active region 29748 [Gene]
LOC130068423:ATAC-STARR-seq lymphoblastoid active region 29749 [Gene]
LOC130068424:ATAC-STARR-seq lymphoblastoid active region 29750 [Gene]
LOC130068425:ATAC-STARR-seq lymphoblastoid active region 29751 [Gene]
LOC130068426:ATAC-STARR-seq lymphoblastoid active region 29752 [Gene]
LOC130068429:ATAC-STARR-seq lymphoblastoid active region 29753 [Gene]
LOC130068433:ATAC-STARR-seq lymphoblastoid active region 29754 [Gene]
LOC130068434:ATAC-STARR-seq lymphoblastoid active region 29755 [Gene]
LOC130068435:ATAC-STARR-seq lymphoblastoid active region 29756 [Gene]
LOC130068436:ATAC-STARR-seq lymphoblastoid active region 29757 [Gene]
LOC130068437:ATAC-STARR-seq lymphoblastoid active region 29758 [Gene]
LOC130068438:ATAC-STARR-seq lymphoblastoid active region 29761 [Gene]
LOC130068439:ATAC-STARR-seq lymphoblastoid active region 29762 [Gene]
LOC130068441:ATAC-STARR-seq lymphoblastoid active region 29763 [Gene]
LOC130068442:ATAC-STARR-seq lymphoblastoid active region 29765 [Gene]
LOC130068443:ATAC-STARR-seq lymphoblastoid active region 29766 [Gene]
LOC130068444:ATAC-STARR-seq lymphoblastoid active region 29767 [Gene]
LOC130068445:ATAC-STARR-seq lymphoblastoid active region 29768 [Gene]
LOC130068447:ATAC-STARR-seq lymphoblastoid active region 29769 [Gene]
LOC130068449:ATAC-STARR-seq lymphoblastoid active region 29770 [Gene]
LOC130068450:ATAC-STARR-seq lymphoblastoid active region 29771 [Gene]
LOC130068451:ATAC-STARR-seq lymphoblastoid active region 29772 [Gene]
LOC130068452:ATAC-STARR-seq lymphoblastoid active region 29773 [Gene]
LOC130068453:ATAC-STARR-seq lymphoblastoid active region 29774 [Gene]
LOC130068454:ATAC-STARR-seq lymphoblastoid active region 29776 [Gene]
LOC130068455:ATAC-STARR-seq lymphoblastoid active region 29777 [Gene]
LOC130068456:ATAC-STARR-seq lymphoblastoid active region 29778 [Gene]
LOC130068458:ATAC-STARR-seq lymphoblastoid active region 29779 [Gene]
LOC130068459:ATAC-STARR-seq lymphoblastoid active region 29780 [Gene]
LOC130068460:ATAC-STARR-seq lymphoblastoid active region 29781 [Gene]
LOC130068461:ATAC-STARR-seq lymphoblastoid active region 29782 [Gene]
LOC130068462:ATAC-STARR-seq lymphoblastoid active region 29783 [Gene]
LOC130068464:ATAC-STARR-seq lymphoblastoid active region 29784 [Gene]
LOC130068465:ATAC-STARR-seq lymphoblastoid active region 29785 [Gene]
LOC130068466:ATAC-STARR-seq lymphoblastoid active region 29786 [Gene]
LOC130068467:ATAC-STARR-seq lymphoblastoid active region 29787 [Gene]
LOC130068468:ATAC-STARR-seq lymphoblastoid active region 29788 [Gene]
LOC130068470:ATAC-STARR-seq lymphoblastoid active region 29789 [Gene]
LOC130068471:ATAC-STARR-seq lymphoblastoid active region 29790 [Gene]
LOC130068472:ATAC-STARR-seq lymphoblastoid active region 29791 [Gene]
LOC130068473:ATAC-STARR-seq lymphoblastoid active region 29792 [Gene]
LOC130068474:ATAC-STARR-seq lymphoblastoid active region 29793 [Gene]
LOC130068475:ATAC-STARR-seq lymphoblastoid active region 29794 [Gene]
LOC130068477:ATAC-STARR-seq lymphoblastoid active region 29795 [Gene]
LOC130068479:ATAC-STARR-seq lymphoblastoid active region 29796 [Gene]
LOC130068480:ATAC-STARR-seq lymphoblastoid active region 29797 [Gene]
LOC130068481:ATAC-STARR-seq lymphoblastoid active region 29798 [Gene]
LOC130068482:ATAC-STARR-seq lymphoblastoid active region 29799 [Gene]
LOC130068483:ATAC-STARR-seq lymphoblastoid active region 29800 [Gene]
LOC130068487:ATAC-STARR-seq lymphoblastoid active region 29801 [Gene]
LOC130068488:ATAC-STARR-seq lymphoblastoid active region 29802 [Gene]
LOC130068489:ATAC-STARR-seq lymphoblastoid active region 29803 [Gene]
LOC130068490:ATAC-STARR-seq lymphoblastoid active region 29804 [Gene]
LOC130068491:ATAC-STARR-seq lymphoblastoid active region 29805 [Gene]
LOC130068492:ATAC-STARR-seq lymphoblastoid active region 29806 [Gene]
LOC130068493:ATAC-STARR-seq lymphoblastoid active region 29807 [Gene]
LOC130068494:ATAC-STARR-seq lymphoblastoid active region 29808 [Gene]
LOC130068495:ATAC-STARR-seq lymphoblastoid active region 29809 [Gene]
LOC130068496:ATAC-STARR-seq lymphoblastoid active region 29810 [Gene]
LOC130068497:ATAC-STARR-seq lymphoblastoid active region 29811 [Gene]
LOC130068498:ATAC-STARR-seq lymphoblastoid active region 29812 [Gene]
LOC130068500:ATAC-STARR-seq lymphoblastoid active region 29813 [Gene]
LOC130068502:ATAC-STARR-seq lymphoblastoid active region 29815 [Gene]
LOC130068504:ATAC-STARR-seq lymphoblastoid active region 29816 [Gene]
LOC130068506:ATAC-STARR-seq lymphoblastoid active region 29817 [Gene]
LOC130068507:ATAC-STARR-seq lymphoblastoid active region 29818 [Gene]
LOC130068508:ATAC-STARR-seq lymphoblastoid active region 29819 [Gene]
LOC130068509:ATAC-STARR-seq lymphoblastoid active region 29820 [Gene]
LOC130068512:ATAC-STARR-seq lymphoblastoid active region 29821 [Gene]
LOC130068513:ATAC-STARR-seq lymphoblastoid active region 29823 [Gene]
LOC130068514:ATAC-STARR-seq lymphoblastoid active region 29824 [Gene]
LOC130068515:ATAC-STARR-seq lymphoblastoid active region 29825 [Gene]
LOC130068517:ATAC-STARR-seq lymphoblastoid active region 29826 [Gene]
LOC130068518:ATAC-STARR-seq lymphoblastoid active region 29827 [Gene]
LOC130068519:ATAC-STARR-seq lymphoblastoid active region 29828 [Gene]
LOC130068520:ATAC-STARR-seq lymphoblastoid active region 29829 [Gene]
LOC130068521:ATAC-STARR-seq lymphoblastoid active region 29830 [Gene]
LOC130068524:ATAC-STARR-seq lymphoblastoid active region 29831 [Gene]
LOC130068525:ATAC-STARR-seq lymphoblastoid active region 29832 [Gene]
LOC130068529:ATAC-STARR-seq lymphoblastoid active region 29833 [Gene]
LOC130068532:ATAC-STARR-seq lymphoblastoid active region 29834 [Gene]
LOC130068533:ATAC-STARR-seq lymphoblastoid active region 29835 [Gene]
LOC130068536:ATAC-STARR-seq lymphoblastoid active region 29837 [Gene]
LOC130068537:ATAC-STARR-seq lymphoblastoid active region 29838 [Gene]
LOC130068538:ATAC-STARR-seq lymphoblastoid active region 29839 [Gene]
LOC130068539:ATAC-STARR-seq lymphoblastoid active region 29840 [Gene]
LOC130068540:ATAC-STARR-seq lymphoblastoid active region 29841 [Gene]
LOC130068541:ATAC-STARR-seq lymphoblastoid active region 29842 [Gene]
LOC130068542:ATAC-STARR-seq lymphoblastoid active region 29843 [Gene]
LOC130068544:ATAC-STARR-seq lymphoblastoid active region 29844 [Gene]
LOC130068545:ATAC-STARR-seq lymphoblastoid active region 29845 [Gene]
LOC130068546:ATAC-STARR-seq lymphoblastoid active region 29846 [Gene]
LOC130068547:ATAC-STARR-seq lymphoblastoid active region 29847 [Gene]
LOC130068548:ATAC-STARR-seq lymphoblastoid active region 29848 [Gene]
LOC130068550:ATAC-STARR-seq lymphoblastoid active region 29849 [Gene]
LOC130068552:ATAC-STARR-seq lymphoblastoid active region 29850 [Gene]
LOC130068553:ATAC-STARR-seq lymphoblastoid active region 29851 [Gene]
LOC130068556:ATAC-STARR-seq lymphoblastoid active region 29853 [Gene]
LOC130068557:ATAC-STARR-seq lymphoblastoid active region 29854 [Gene]
LOC130068558:ATAC-STARR-seq lymphoblastoid active region 29855 [Gene]
LOC130068559:ATAC-STARR-seq lymphoblastoid active region 29856 [Gene]
LOC130068562:ATAC-STARR-seq lymphoblastoid active region 29857 [Gene]
LOC130068563:ATAC-STARR-seq lymphoblastoid active region 29860 [Gene]
LOC130068565:ATAC-STARR-seq lymphoblastoid active region 29861 [Gene]
LOC130068566:ATAC-STARR-seq lymphoblastoid active region 29862 [Gene]
LOC130068567:ATAC-STARR-seq lymphoblastoid active region 29863 [Gene]
LOC130068569:ATAC-STARR-seq lymphoblastoid active region 29865 [Gene]
LOC130068570:ATAC-STARR-seq lymphoblastoid active region 29866 [Gene]
LOC130068571:ATAC-STARR-seq lymphoblastoid active region 29867 [Gene]
LOC130068572:ATAC-STARR-seq lymphoblastoid active region 29868 [Gene]
LOC130068573:ATAC-STARR-seq lymphoblastoid active region 29869 [Gene]
LOC130068574:ATAC-STARR-seq lymphoblastoid active region 29870 [Gene]
LOC130068575:ATAC-STARR-seq lymphoblastoid active region 29871 [Gene]
LOC130068576:ATAC-STARR-seq lymphoblastoid active region 29872 [Gene]
LOC130068577:ATAC-STARR-seq lymphoblastoid active region 29873 [Gene]
LOC130068578:ATAC-STARR-seq lymphoblastoid active region 29874 [Gene]
LOC130068579:ATAC-STARR-seq lymphoblastoid active region 29875 [Gene]
LOC130068580:ATAC-STARR-seq lymphoblastoid active region 29876 [Gene]
LOC130068581:ATAC-STARR-seq lymphoblastoid active region 29877 [Gene]
LOC130068583:ATAC-STARR-seq lymphoblastoid active region 29878 [Gene]
LOC130068288:ATAC-STARR-seq lymphoblastoid silent region 20850 [Gene]
LOC130068289:ATAC-STARR-seq lymphoblastoid silent region 20851 [Gene]
LOC130068300:ATAC-STARR-seq lymphoblastoid silent region 20852 [Gene]
LOC130068301:ATAC-STARR-seq lymphoblastoid silent region 20853 [Gene]
LOC130068302:ATAC-STARR-seq lymphoblastoid silent region 20854 [Gene]
LOC130068304:ATAC-STARR-seq lymphoblastoid silent region 20855 [Gene]
LOC130068305:ATAC-STARR-seq lymphoblastoid silent region 20856 [Gene]
LOC130068309:ATAC-STARR-seq lymphoblastoid silent region 20857 [Gene]
LOC130068310:ATAC-STARR-seq lymphoblastoid silent region 20858 [Gene]
LOC130068312:ATAC-STARR-seq lymphoblastoid silent region 20859 [Gene]
LOC130068318:ATAC-STARR-seq lymphoblastoid silent region 20860 [Gene]
LOC130068320:ATAC-STARR-seq lymphoblastoid silent region 20861 [Gene]
LOC130068321:ATAC-STARR-seq lymphoblastoid silent region 20862 [Gene]
LOC130068322:ATAC-STARR-seq lymphoblastoid silent region 20863 [Gene]
LOC130068324:ATAC-STARR-seq lymphoblastoid silent region 20864 [Gene]
LOC130068328:ATAC-STARR-seq lymphoblastoid silent region 20865 [Gene]
LOC130068332:ATAC-STARR-seq lymphoblastoid silent region 20867 [Gene]
LOC130068335:ATAC-STARR-seq lymphoblastoid silent region 20868 [Gene]
LOC130068342:ATAC-STARR-seq lymphoblastoid silent region 20869 [Gene]
LOC130068354:ATAC-STARR-seq lymphoblastoid silent region 20870 [Gene]
LOC130068356:ATAC-STARR-seq lymphoblastoid silent region 20871 [Gene]
LOC130068357:ATAC-STARR-seq lymphoblastoid silent region 20872 [Gene]
LOC130068358:ATAC-STARR-seq lymphoblastoid silent region 20873 [Gene]
LOC130068364:ATAC-STARR-seq lymphoblastoid silent region 20874 [Gene]
LOC130068365:ATAC-STARR-seq lymphoblastoid silent region 20875 [Gene]
LOC130068366:ATAC-STARR-seq lymphoblastoid silent region 20877 [Gene]
LOC130068367:ATAC-STARR-seq lymphoblastoid silent region 20878 [Gene]
LOC130068372:ATAC-STARR-seq lymphoblastoid silent region 20879 [Gene]
LOC130068373:ATAC-STARR-seq lymphoblastoid silent region 20880 [Gene]
LOC130068377:ATAC-STARR-seq lymphoblastoid silent region 20881 [Gene]
LOC130068378:ATAC-STARR-seq lymphoblastoid silent region 20882 [Gene]
LOC130068382:ATAC-STARR-seq lymphoblastoid silent region 20883 [Gene]
LOC130068387:ATAC-STARR-seq lymphoblastoid silent region 20884 [Gene]
LOC130068391:ATAC-STARR-seq lymphoblastoid silent region 20885 [Gene]
LOC130068392:ATAC-STARR-seq lymphoblastoid silent region 20886 [Gene]
LOC130068394:ATAC-STARR-seq lymphoblastoid silent region 20887 [Gene]
LOC130068395:ATAC-STARR-seq lymphoblastoid silent region 20888 [Gene]
LOC130068399:ATAC-STARR-seq lymphoblastoid silent region 20889 [Gene]
LOC130068401:ATAC-STARR-seq lymphoblastoid silent region 20890 [Gene]
LOC130068404:ATAC-STARR-seq lymphoblastoid silent region 20891 [Gene]
LOC130068405:ATAC-STARR-seq lymphoblastoid silent region 20893 [Gene]
LOC130068413:ATAC-STARR-seq lymphoblastoid silent region 20895 [Gene]
LOC130068414:ATAC-STARR-seq lymphoblastoid silent region 20896 [Gene]
LOC130068416:ATAC-STARR-seq lymphoblastoid silent region 20897 [Gene]
LOC130068418:ATAC-STARR-seq lymphoblastoid silent region 20898 [Gene]
LOC130068427:ATAC-STARR-seq lymphoblastoid silent region 20899 [Gene]
LOC130068428:ATAC-STARR-seq lymphoblastoid silent region 20900 [Gene]
LOC130068430:ATAC-STARR-seq lymphoblastoid silent region 20901 [Gene]
LOC130068431:ATAC-STARR-seq lymphoblastoid silent region 20902 [Gene]
LOC130068432:ATAC-STARR-seq lymphoblastoid silent region 20903 [Gene]
LOC130068440:ATAC-STARR-seq lymphoblastoid silent region 20905 [Gene]
LOC130068446:ATAC-STARR-seq lymphoblastoid silent region 20906 [Gene]
LOC130068448:ATAC-STARR-seq lymphoblastoid silent region 20907 [Gene]
LOC130068457:ATAC-STARR-seq lymphoblastoid silent region 20908 [Gene]
LOC130068463:ATAC-STARR-seq lymphoblastoid silent region 20909 [Gene]
LOC130068469:ATAC-STARR-seq lymphoblastoid silent region 20910 [Gene]
LOC130068476:ATAC-STARR-seq lymphoblastoid silent region 20911 [Gene]
LOC130068478:ATAC-STARR-seq lymphoblastoid silent region 20912 [Gene]
LOC130068484:ATAC-STARR-seq lymphoblastoid silent region 20914 [Gene]
LOC130068485:ATAC-STARR-seq lymphoblastoid silent region 20915 [Gene]
LOC130068486:ATAC-STARR-seq lymphoblastoid silent region 20916 [Gene]
LOC130068499:ATAC-STARR-seq lymphoblastoid silent region 20917 [Gene]
LOC130068501:ATAC-STARR-seq lymphoblastoid silent region 20918 [Gene]
LOC130068503:ATAC-STARR-seq lymphoblastoid silent region 20919 [Gene]
LOC130068505:ATAC-STARR-seq lymphoblastoid silent region 20920 [Gene]
LOC130068510:ATAC-STARR-seq lymphoblastoid silent region 20921 [Gene]
LOC130068511:ATAC-STARR-seq lymphoblastoid silent region 20922 [Gene]
LOC130068516:ATAC-STARR-seq lymphoblastoid silent region 20923 [Gene]
LOC130068522:ATAC-STARR-seq lymphoblastoid silent region 20925 [Gene]
LOC130068523:ATAC-STARR-seq lymphoblastoid silent region 20926 [Gene]
LOC130068526:ATAC-STARR-seq lymphoblastoid silent region 20927 [Gene]
LOC130068527:ATAC-STARR-seq lymphoblastoid silent region 20928 [Gene]
LOC130068528:ATAC-STARR-seq lymphoblastoid silent region 20929 [Gene]
LOC130068530:ATAC-STARR-seq lymphoblastoid silent region 20930 [Gene]
LOC130068531:ATAC-STARR-seq lymphoblastoid silent region 20931 [Gene]
LOC130068534:ATAC-STARR-seq lymphoblastoid silent region 20933 [Gene]
LOC130068535:ATAC-STARR-seq lymphoblastoid silent region 20934 [Gene]
LOC130068543:ATAC-STARR-seq lymphoblastoid silent region 20935 [Gene]
LOC130068549:ATAC-STARR-seq lymphoblastoid silent region 20936 [Gene]
LOC130068551:ATAC-STARR-seq lymphoblastoid silent region 20938 [Gene]
LOC130068554:ATAC-STARR-seq lymphoblastoid silent region 20939 [Gene]
LOC130068555:ATAC-STARR-seq lymphoblastoid silent region 20940 [Gene]
LOC130068560:ATAC-STARR-seq lymphoblastoid silent region 20942 [Gene]
LOC130068561:ATAC-STARR-seq lymphoblastoid silent region 20943 [Gene]
LOC130068564:ATAC-STARR-seq lymphoblastoid silent region 20944 [Gene]
LOC130068568:ATAC-STARR-seq lymphoblastoid silent region 20945 [Gene]
LOC130068582:ATAC-STARR-seq lymphoblastoid silent region 20950 [Gene]
LOC130068584:ATAC-STARR-seq lymphoblastoid silent region 20951 [Gene]
LOC130068585:ATAC-STARR-seq lymphoblastoid silent region 20952 [Gene]
LOC130068586:ATAC-STARR-seq lymphoblastoid silent region 20953 [Gene]
LOC130068587:ATAC-STARR-seq lymphoblastoid silent region 20954 [Gene]
LOC130068588:ATAC-STARR-seq lymphoblastoid silent region 20955 [Gene]
LOC130068589:ATAC-STARR-seq lymphoblastoid silent region 20956 [Gene]
ABCB7:ATP binding cassette subfamily B member 7 [Gene - OMIM - HGNC]
ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]
ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]
LOC126863294:BRD4-independent group 4 enhancer GRCh37_chrX:100878731-100879930 [Gene]
LOC126863296:BRD4-independent group 4 enhancer GRCh37_chrX:102809676-102810875 [Gene]
LOC126863299:BRD4-independent group 4 enhancer GRCh37_chrX:107234349-107235548 [Gene]
LOC126863300:BRD4-independent group 4 enhancer GRCh37_chrX:107513459-107514658 [Gene]
LOC126863304:BRD4-independent group 4 enhancer GRCh37_chrX:113511303-113512502 [Gene]
LOC126863305:BRD4-independent group 4 enhancer GRCh37_chrX:113514507-113515706 [Gene]
LOC126863308:BRD4-independent group 4 enhancer GRCh37_chrX:116381582-116382781 [Gene]
LOC126863259:BRD4-independent group 4 enhancer GRCh37_chrX:51666077-51667276 [Gene]
LOC126863263:BRD4-independent group 4 enhancer GRCh37_chrX:53619238-53620437 [Gene]
LOC126863275:BRD4-independent group 4 enhancer GRCh37_chrX:70342400-70343599 [Gene]
LOC126863276:BRD4-independent group 4 enhancer GRCh37_chrX:70523398-70524597 [Gene]
LOC126863281:BRD4-independent group 4 enhancer GRCh37_chrX:73915317-73916516 [Gene]
LOC126863284:BRD4-independent group 4 enhancer GRCh37_chrX:81981951-81983150 [Gene]
LOC126863285:BRD4-independent group 4 enhancer GRCh37_chrX:82147473-82148672 [Gene]
LOC126863289:BRD4-independent group 4 enhancer GRCh37_chrX:92840114-92841313 [Gene]
BTK:Bruton tyrosine kinase [Gene - OMIM - HGNC]
CXCR3:C-X-C motif chemokine receptor 3 [Gene - OMIM - HGNC]
LOC126863293:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:100182110-100183309 [Gene]
LOC126863295:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:102610887-102612086 [Gene]
LOC126863297:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:103061708-103062907 [Gene]
LOC126863301:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:107884720-107885919 [Gene]
LOC126863302:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:110489468-110490667 [Gene]
LOC126863309:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:118125886-118127085 [Gene]
LOC126863310:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:118174593-118175792 [Gene]
LOC126863265:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:55945424-55946623 [Gene]
LOC126863268:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:65252367-65253566 [Gene]
LOC126863269:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:65855165-65856364 [Gene]
LOC126863273:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:69473037-69474236 [Gene]
LOC126863278:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:70888661-70889860 [Gene]
LOC126863280:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:72701495-72702694 [Gene]
LOC126863282:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:77413269-77414468 [Gene]
LOC126863286:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:83643706-83644905 [Gene]
LOC126863290:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:94544817-94546016 [Gene]
LOC125467768:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:99657381-99658580 [Gene]
CHM:CHM Rab escort protein [Gene - OMIM - HGNC]
CPXCR1:CPX chromosome region candidate 1 [Gene - OMIM - HGNC]
LOC116309156:CRISPRi-validated cis-regulatory element chrX.1184 [Gene]
LOC116309157:CRISPRi-validated cis-regulatory element chrX.1663 [Gene]
LOC116309158:CRISPRi-validated cis-regulatory element chrX.1665 [Gene]
LOC116309159:CRISPRi-validated cis-regulatory element chrX.1666 [Gene]
CITED1:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 [Gene - OMIM - HGNC]
ARHGEF9:Cdc42 guanine nucleotide exchange factor 9 [Gene - OMIM - HGNC]
DIAPH2-AS1:DIAPH2 antisense RNA 1 [Gene - OMIM - HGNC]
DLG3-AS1:DLG3 antisense RNA 1 [Gene - HGNC]
DMRTC1:DMRT like family C1 [Gene - OMIM - HGNC]
DMRTC1B:DMRT like family C1B [Gene - HGNC]
DANT1:DXZ4 associated non-coding transcript 1, proximal [Gene - OMIM - HGNC]
DANT2:DXZ4 associated non-coding transcript 2, distal [Gene - OMIM - HGNC]
ERCC6L:ERCC excision repair 6 like, spindle assembly checkpoint helicase [Gene - OMIM - HGNC]
ESX1:ESX homeobox 1 [Gene - OMIM - HGNC]
EZHIP:EZH inhibitory protein [Gene - OMIM - HGNC]
FRMPD3:FERM and PDZ domain containing 3 [Gene - OMIM - HGNC]
FRMPD3-AS1:FRMPD3 antisense RNA 1 [Gene - HGNC]
FTX:FTX transcript, XIST regulator [Gene - OMIM - HGNC]
FGD1:FYVE, RhoGEF and PH domain containing 1 [Gene - OMIM - HGNC]
GNL3L:G protein nucleolar 3 like [Gene - OMIM - HGNC]
GNG5B:G protein subunit gamma 5B [Gene - HGNC]
GPR173:G protein-coupled receptor 173 [Gene - OMIM - HGNC]
GPR174:G protein-coupled receptor 174 [Gene - OMIM - HGNC]
GPRASP1:G protein-coupled receptor associated sorting protein 1 [Gene - OMIM - HGNC]
GPRASP2:G protein-coupled receptor associated sorting protein 2 [Gene - OMIM - HGNC]
GPRASP3:G protein-coupled receptor associated sorting protein family member 3 [Gene - OMIM - HGNC]
GSPT2:G1 to S phase transition 2 [Gene - OMIM - HGNC]
H2BW1:H2B.W histone 1 [Gene - OMIM - HGNC]
H2BW2:H2B.W histone 2 [Gene - HGNC]
HUWE1:HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
LOC111365174:HNF1 motif-containing MPRA enhancer 3 [Gene]
IQSEC2:IQ motif and Sec7 domain ArfGEF 2 [Gene - OMIM - HGNC]
IRS4-AS1:IRS4 antisense RNA 1 [Gene - HGNC]
JPX:JPX transcript, XIST activator [Gene - OMIM - HGNC]
KANTR:KANTR integral membrane protein [Gene - OMIM - HGNC]
KIAA1210:KIAA1210 [Gene - OMIM - HGNC]
KLF8:KLF transcription factor 8 [Gene - OMIM - HGNC]
LAS1L:LAS1 like ribosome biogenesis factor [Gene - OMIM - HGNC]
LHFPL1:LHFPL tetraspan subfamily member 1 [Gene - OMIM - HGNC]
LONRF3:LON peptidase N-terminal domain and ring finger 3 [Gene - HGNC]
MAGED1:MAGE family member D1 [Gene - OMIM - HGNC]
MAGED2:MAGE family member D2 [Gene - OMIM - HGNC]
MAGED4:MAGE family member D4 [Gene - OMIM - HGNC]
MAGED4B:MAGE family member D4B [Gene - OMIM - HGNC]
MAGEE1:MAGE family member E1 [Gene - OMIM - HGNC]
MAGEE2:MAGE family member E2 [Gene - OMIM - HGNC]
MAGEH1:MAGE family member H1 [Gene - OMIM - HGNC]
LOC126863303:MED14-independent group 3 enhancer GRCh37_chrX:112516938-112518137 [Gene]
LOC113845785:MED14-independent group 3 enhancer GRCh37_chrX:113314234-113315433 [Gene]
LOC126863306:MED14-independent group 3 enhancer GRCh37_chrX:114140926-114142125 [Gene]
LOC126863261:MED14-independent group 3 enhancer GRCh37_chrX:52895119-52896318 [Gene]
LOC126863262:MED14-independent group 3 enhancer GRCh37_chrX:53588722-53589921 [Gene]
LOC126863264:MED14-independent group 3 enhancer GRCh37_chrX:53742749-53743948 [Gene]
LOC126863266:MED14-independent group 3 enhancer GRCh37_chrX:57143727-57144926 [Gene]
LOC126863272:MED14-independent group 3 enhancer GRCh37_chrX:69330633-69331832 [Gene]
LOC126863274:MED14-independent group 3 enhancer GRCh37_chrX:70330888-70332087 [Gene]
LOC126863277:MED14-independent group 3 enhancer GRCh37_chrX:70752005-70753204 [Gene]
LOC126863279:MED14-independent group 3 enhancer GRCh37_chrX:71773892-71775091 [Gene]
LOC126863287:MED14-independent group 3 enhancer GRCh37_chrX:86520149-86521348 [Gene]
LOC126863291:MED14-independent group 3 enhancer GRCh37_chrX:96374110-96375309 [Gene]
MIR223HG:MIR223 host gene [Gene - HGNC]
MIR325HG:MIR325 host gene [Gene - HGNC]
MORC4:MORC family CW-type zinc finger 4 [Gene - OMIM - HGNC]
MORF4L2-AS1:MORF4L2 antisense RNA 1 [Gene - HGNC]
LOC129391301:MPRA-validated peak7381 silencer [Gene]
LOC129391302:MPRA-validated peak7382 silencer [Gene]
LOC129391303:MPRA-validated peak7383 silencer [Gene]
LOC129391304:MPRA-validated peak7391 silencer [Gene]
LOC129391305:MPRA-validated peak7397 silencer [Gene]
LOC129391306:MPRA-validated peak7401 silencer [Gene]
LOC129391307:MPRA-validated peak7402 silencer [Gene]
LOC129391308:MPRA-validated peak7403 silencer [Gene]
LOC129391309:MPRA-validated peak7415 silencer [Gene]
MTRNR2L10:MT-RNR2 like 10 [Gene - HGNC]
NOX1:NADPH oxidase 1 [Gene - OMIM - HGNC]
NALF2:NALCN channel auxiliary factor 2 [Gene - HGNC]
NHSL2:NHS like 2 [Gene - OMIM - HGNC]
NLRP2B:NLR family pyrin domain containing 2B [Gene - HGNC]
NRK:Nik related kinase [Gene - OMIM - HGNC]
OGT:O-linked N-acetylglucosamine (GlcNAc) transferase [Gene - OMIM - HGNC]
OTUD6A:OTU deubiquitinase 6A [Gene - OMIM - HGNC]
P2RY10:P2Y receptor family member 10 [Gene - OMIM - HGNC]
LOC126863298:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:107178227-107179426 [Gene]
LOC126863307:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:115403048-115404247 [Gene]
LOC126863260:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:52089469-52090668 [Gene]
LOC126863267:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:65151966-65153165 [Gene]
LOC126863270:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:65937581-65938780 [Gene]
LOC126863271:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:68369986-68371185 [Gene]
LOC126863283:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:79471575-79472774 [Gene]
LOC126863288:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:87990232-87991431 [Gene]
LOC126863292:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:96871608-96872807 [Gene]
PABPC1L2B-AS1:PABPC1L2B antisense RNA 1 (head to head) [Gene - HGNC]
PABPC5-AS1:PABPC5 antisense RNA 1 [Gene - HGNC]
PAGE2:PAGE family member 2 [Gene - OMIM - HGNC]
PAGE2B:PAGE family member 2B [Gene - HGNC]
PAGE3:PAGE family member 3 [Gene - OMIM - HGNC]
PAGE5:PAGE family member 5 [Gene - OMIM - HGNC]
PDZD11:PDZ domain containing 11 [Gene - OMIM - HGNC]
PHF8:PHD finger protein 8 [Gene - OMIM - HGNC]
PHKA1-AS1:PHKA1 antisense RNA 1 [Gene - HGNC]
PLS3-AS1:PLS3 antisense RNA 1 [Gene - HGNC]
POF1B:POF1B actin binding protein [Gene - OMIM - HGNC]
POU3F4:POU class 3 homeobox 4 [Gene - OMIM - HGNC]
PWWP3B:PWWP domain containing 3B [Gene - HGNC]
LOC401589:Putative uncharacterized protein FLJ39060 [Gene]
RAB40AL:RAB40A like [Gene - OMIM - HGNC]
RAB40A:RAB40A, member RAS oncogene family [Gene - OMIM - HGNC]
RAB41:RAB41, member RAS oncogene family [Gene - HGNC]
RAB9B:RAB9B, member RAS oncogene family [Gene - OMIM - HGNC]
RBMXL3:RBMX like 3 [Gene - HGNC]
RIBC1:RIB43A domain with coiled-coils 1 [Gene - HGNC]
RBM41:RNA binding motif protein 41 [Gene - HGNC]
RADX:RPA1 related single stranded DNA binding protein, X-linked [Gene - HGNC]
RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
RRAGB:Ras related GTP binding B [Gene - OMIM - HGNC]
SH3BGRL:SH3 domain binding glutamate rich protein like [Gene - OMIM - HGNC]
SPANXN5:SPANX family member N5 [Gene - OMIM - HGNC]
SPIN4-AS1:SPIN4 antisense RNA 1 [Gene - HGNC]
SSX2:SSX family member 2 [Gene - OMIM - HGNC]
SSX2B:SSX family member 2B [Gene - HGNC]
SSX7:SSX family member 7 [Gene - OMIM - HGNC]
LOC121853063:Sharpr-MPRA regulatory region 10711 [Gene]
LOC121627972:Sharpr-MPRA regulatory region 11230 [Gene]
LOC113875038:Sharpr-MPRA regulatory region 11812 [Gene]
LOC121853059:Sharpr-MPRA regulatory region 12156 [Gene]
LOC121627977:Sharpr-MPRA regulatory region 12264 [Gene]
LOC125467760:Sharpr-MPRA regulatory region 12317 [Gene]
LOC121627973:Sharpr-MPRA regulatory region 13191 [Gene]
LOC121627974:Sharpr-MPRA regulatory region 13270 [Gene]
LOC125467776:Sharpr-MPRA regulatory region 13303 [Gene]
LOC125467759:Sharpr-MPRA regulatory region 13592 [Gene]
LOC125467765:Sharpr-MPRA regulatory region 1365 [Gene]
LOC125467762:Sharpr-MPRA regulatory region 14051 [Gene]
LOC125467769:Sharpr-MPRA regulatory region 14263 [Gene]
LOC113875039:Sharpr-MPRA regulatory region 14264 [Gene]
LOC125467756:Sharpr-MPRA regulatory region 14361 [Gene]
LOC113875036:Sharpr-MPRA regulatory region 14511 [Gene]
LOC125467771:Sharpr-MPRA regulatory region 15158 [Gene]
LOC121853062:Sharpr-MPRA regulatory region 15282 [Gene]
LOC121853064:Sharpr-MPRA regulatory region 15331 [Gene]
LOC125467755:Sharpr-MPRA regulatory region 15663 [Gene]
LOC114022708:Sharpr-MPRA regulatory region 1584 [Gene]
LOC121853066:Sharpr-MPRA regulatory region 1920 [Gene]
LOC125467764:Sharpr-MPRA regulatory region 2135 [Gene]
LOC121853065:Sharpr-MPRA regulatory region 2184 [Gene]
LOC125467773:Sharpr-MPRA regulatory region 2605 [Gene]
LOC125467749:Sharpr-MPRA regulatory region 2913 [Gene]
LOC125467763:Sharpr-MPRA regulatory region 2992 [Gene]
LOC121853061:Sharpr-MPRA regulatory region 3371 [Gene]
LOC121627975:Sharpr-MPRA regulatory region 4327 [Gene]
LOC113875035:Sharpr-MPRA regulatory region 4431 [Gene]
LOC113845780:Sharpr-MPRA regulatory region 49 [Gene]
LOC125467766:Sharpr-MPRA regulatory region 5203 [Gene]
LOC125467753:Sharpr-MPRA regulatory region 5322 [Gene]
LOC121853060:Sharpr-MPRA regulatory region 5483 [Gene]
LOC125467767:Sharpr-MPRA regulatory region 5624 [Gene]
LOC113875033:Sharpr-MPRA regulatory region 5919 [Gene]
LOC113845781:Sharpr-MPRA regulatory region 5968 [Gene]
LOC125467770:Sharpr-MPRA regulatory region 6089 [Gene]
LOC121627976:Sharpr-MPRA regulatory region 6756 [Gene]
LOC125467761:Sharpr-MPRA regulatory region 7273 [Gene]
LOC125467775:Sharpr-MPRA regulatory region 7314 [Gene]
LOC121853058:Sharpr-MPRA regulatory region 7453 [Gene]
LOC113845782:Sharpr-MPRA regulatory region 8383 [Gene]
LOC113875034:Sharpr-MPRA regulatory region 9838 [Gene]
LOC125467754:Sharpr-MPRA regulatory region 9958 [Gene]
LOC111828531:Sharpr-MPRA regulatory regions 2439 and 5762 [Gene]
STARD8:StAR related lipid transfer domain containing 8 [Gene - OMIM - HGNC]
TBX22:T-box transcription factor 22 [Gene - OMIM - HGNC]
TAF1:TATA-box binding protein associated factor 1 [Gene - OMIM - HGNC]
TAF7L:TATA-box binding protein associated factor 7 like [Gene - OMIM - HGNC]
TAF9B:TATA-box binding protein associated factor 9b [Gene - OMIM - HGNC]
TBC1D8B:TBC1 domain family member 8B [Gene - OMIM - HGNC]
LOC109286564:TBX22 P0 promoter [Gene]
TGIF2LX:TGFB induced factor homeobox 2 like X-linked [Gene - OMIM - HGNC]
TMSB15B-AS1:TMSB15B antisense RNA 1 [Gene - HGNC]
FLJ44635:TPT1-like protein [Gene]
TRPC5OS:TRPC5 opposite strand [Gene - HGNC]
TSC22D3:TSC22 domain family member 3 [Gene - OMIM - HGNC]
TSIX:TSIX transcript, XIST antisense RNA [Gene - OMIM - HGNC]
TSPYL2:TSPY like 2 [Gene - OMIM - HGNC]
TSR2:TSR2 ribosome maturation factor [Gene - OMIM - HGNC]
VSIG1:V-set and immunoglobulin domain containing 1 [Gene - OMIM - HGNC]
VSIG4:V-set and immunoglobulin domain containing 4 [Gene - OMIM - HGNC]
VCF2:VCP nuclear cofactor family member 2 [Gene - HGNC]
LOC110120679:VISTA enhancer hs426 [Gene]
LOC110120711:VISTA enhancer hs582 [Gene]
WDR44:WD repeat domain 44 [Gene - OMIM - HGNC]
WNK3:WNK lysine deficient protein kinase 3 [Gene - OMIM - HGNC]
XACT:X active specific transcript [Gene - OMIM - HGNC]
XAGE1A:X antigen family member 1A [Gene - OMIM - HGNC]
XAGE1B:X antigen family member 1B [Gene - OMIM - HGNC]
XAGE2:X antigen family member 2 [Gene - OMIM - HGNC]
XAGE3:X antigen family member 3 [Gene - OMIM - HGNC]
XAGE5:X antigen family member 5 [Gene - OMIM - HGNC]
XIST:X inactive specific transcript [Gene - OMIM - HGNC]
XAGE-4:XAGE-4 protein [Gene]
XKRX:XK related X-linked [Gene - OMIM - HGNC]
YIPF6:Yip1 domain family member 6 [Gene - OMIM - HGNC]
ACSL4:acyl-CoA synthetase long chain family member 4 [Gene - OMIM - HGNC]
AWAT1:acyl-CoA wax alcohol acyltransferase 1 [Gene - OMIM - HGNC]
AWAT2:acyl-CoA wax alcohol acyltransferase 2 [Gene - OMIM - HGNC]
LOC109504725:androgen receptor repeat instability region [Gene]
AR:androgen receptor [Gene - OMIM - HGNC]
AMOT:angiomotin [Gene - OMIM - HGNC]
AGTR2:angiotensin II receptor type 2 [Gene - OMIM - HGNC]
ASB12:ankyrin repeat and SOCS box containing 12 [Gene - OMIM - HGNC]
APOOL:apolipoprotein O like [Gene - OMIM - HGNC]
APEX2:apurinic/apyrimidinic endodeoxyribonuclease 2 [Gene - OMIM - HGNC]
ARMCX1:armadillo repeat containing X-linked 1 [Gene - OMIM - HGNC]
ARMCX2:armadillo repeat containing X-linked 2 [Gene - OMIM - HGNC]
ARMCX3:armadillo repeat containing X-linked 3 [Gene - OMIM - HGNC]
ARMCX4:armadillo repeat containing X-linked 4 [Gene - OMIM - HGNC]
ARMCX5:armadillo repeat containing X-linked 5 [Gene - OMIM - HGNC]
ARMCX6:armadillo repeat containing X-linked 6 [Gene - OMIM - HGNC]
ARR3:arrestin 3 [Gene - OMIM - HGNC]
ATG4A:autophagy related 4A cysteine peptidase [Gene - OMIM - HGNC]
BMP15:bone morphogenetic protein 15 [Gene - OMIM - HGNC]
BEX1:brain expressed X-linked 1 [Gene - OMIM - HGNC]
BEX2:brain expressed X-linked 2 [Gene - OMIM - HGNC]
BEX3:brain expressed X-linked 3 [Gene - OMIM - HGNC]
BEX4:brain expressed X-linked 4 [Gene - OMIM - HGNC]
BEX5:brain expressed X-linked 5 [Gene - OMIM - HGNC]
BRWD3:bromodomain and WD repeat domain containing 3 [Gene - OMIM - HGNC]
CAPN6:calpain 6 [Gene - OMIM - HGNC]
CT83:cancer/testis antigen 83 [Gene - OMIM - HGNC]
CT47C1:cancer/testis antigen family 47 member C1 [Gene - HGNC]
CDX4:caudal type homeobox 4 [Gene - OMIM - HGNC]
CENPI:centromere protein I [Gene - OMIM - HGNC]
CENPVL1:centromere protein V like 1 [Gene - HGNC]
CENPVL2:centromere protein V like 2 [Gene - HGNC]
CENPVL3:centromere protein V like 3 [Gene - HGNC]
CHRDL1:chordin like 1 [Gene - OMIM - HGNC]
LOC101059915:chromosome X open reading frame 49-like [Gene]
CXorf49:chromosome X open reading frame 49 [Gene - HGNC]
CXorf49B:chromosome X open reading frame 49B [Gene - HGNC]
CXorf65:chromosome X open reading frame 65 [Gene - HGNC]
CLDN2:claudin 2 [Gene - OMIM - HGNC]
CSTF2:cleavage stimulation factor subunit 2 [Gene - OMIM - HGNC]
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
COL4A6:collagen type IV alpha 6 chain [Gene - OMIM - HGNC]
CRIPTO3:cripto, EGF-CFC family member 3 [Gene - HGNC]
CCNB3:cyclin B3 [Gene - OMIM - HGNC]
CYLC1:cylicin 1 [Gene - OMIM - HGNC]
CHIC1:cysteine rich hydrophobic domain 1 [Gene - OMIM - HGNC]
CYSLTR1:cysteinyl leukotriene receptor 1 [Gene - OMIM - HGNC]
COX7B:cytochrome c oxidase subunit 7B [Gene - OMIM - HGNC]
DACH2:dachshund family transcription factor 2 [Gene - OMIM - HGNC]
DOCK11:dedicator of cytokinesis 11 [Gene - OMIM - HGNC]
DGAT2L6:diacylglycerol O-acyltransferase 2 like 6 [Gene - OMIM - HGNC]
DGKK:diacylglycerol kinase kappa [Gene - OMIM - HGNC]
DIAPH2:diaphanous related formin 2 [Gene - OMIM - HGNC]
DLG3:discs large MAGUK scaffold protein 3 [Gene - OMIM - HGNC]
DCX:doublecortin [Gene - OMIM - HGNC]
DNAAF6:dynein axonemal assembly factor 6 [Gene - OMIM - HGNC]
DRP2:dystrophin related protein 2 [Gene - OMIM - HGNC]
EDA2R:ectodysplasin A2 receptor [Gene - OMIM - HGNC]
EDA:ectodysplasin A [Gene - OMIM - HGNC]
EFNB1:ephrin B1 [Gene - OMIM - HGNC]
FAM120C:family with sequence similarity 120 member C [Gene - OMIM - HGNC]
FAM133A:family with sequence similarity 133 member A [Gene - HGNC]
FAM156A:family with sequence similarity 156 member A [Gene - HGNC]
FAM156B:family with sequence similarity 156 member B [Gene - HGNC]
FAM199X:family with sequence similarity 199, X-linked [Gene - HGNC]
FAM226A:family with sequence similarity 226 member A [Gene - HGNC]
FAM226B:family with sequence similarity 226 member B [Gene - HGNC]
FAM236A:family with sequence similarity 236 member A [Gene - HGNC]
FAM236B:family with sequence similarity 236 member B [Gene - HGNC]
FAM236C:family with sequence similarity 236 member C [Gene - HGNC]
FAM236D:family with sequence similarity 236 member D [Gene - HGNC]
FAAH2:fatty acid amide hydrolase 2 [Gene - OMIM - HGNC]
FGF16:fibroblast growth factor 16 [Gene - OMIM - HGNC]
FOXO4:forkhead box O4 [Gene - OMIM - HGNC]
FOXR2:forkhead box R2 [Gene - OMIM - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]
GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
GCNA:germ cell nuclear acidic peptidase [Gene - OMIM - HGNC]
GDPD2:glycerophosphodiester phosphodiesterase domain containing 2 [Gene - OMIM - HGNC]
GUCY2F:guanylate cyclase 2F, retinal [Gene - OMIM - HGNC]
HEPH:hephaestin [Gene - OMIM - HGNC]
HNRNPH2:heterogeneous nuclear ribonucleoprotein H2 [Gene - OMIM - HGNC]
HMGN5:high mobility group nucleosome binding domain 5 [Gene - OMIM - HGNC]
HDX:highly divergent homeobox [Gene - OMIM - HGNC]
HDAC8:histone deacetylase 8 [Gene - OMIM - HGNC]
HSD17B10:hydroxysteroid 17-beta dehydrogenase 10 [Gene - OMIM - HGNC]
IGBP1:immunoglobulin binding protein 1 [Gene - OMIM - HGNC]
IRS4:insulin receptor substrate 4 [Gene - OMIM - HGNC]
ITM2A:integral membrane protein 2A [Gene - OMIM - HGNC]
ITGB1BP2:integrin subunit beta 1 binding protein 2 [Gene - OMIM - HGNC]
ITIH6:inter-alpha-trypsin inhibitor heavy chain family member 6 [Gene - HGNC]
IL1RAPL2:interleukin 1 receptor accessory protein like 2 [Gene - OMIM - HGNC]
IL13RA1:interleukin 13 receptor subunit alpha 1 [Gene - OMIM - HGNC]
IL13RA2:interleukin 13 receptor subunit alpha 2 [Gene - OMIM - HGNC]
IL2RG:interleukin 2 receptor subunit gamma [Gene - OMIM - HGNC]
KLHL13:kelch like family member 13 [Gene - OMIM - HGNC]
KLHL4:kelch like family member 4 [Gene - OMIM - HGNC]
KIF4A:kinesin family member 4A [Gene - OMIM - HGNC]
LRCH2:leucine rich repeats and calponin homology domain containing 2 [Gene - HGNC]
LUZP4:leucine zipper protein 4 [Gene - OMIM - HGNC]
LINC01278:long intergenic non-protein coding RNA 1278 [Gene - HGNC]
LINC01284:long intergenic non-protein coding RNA 1284 [Gene - HGNC]
LINC01285:long intergenic non-protein coding RNA 1285 [Gene - HGNC]
LINC01496:long intergenic non-protein coding RNA 1496 [Gene - HGNC]
LINC02589:long intergenic non-protein coding RNA 2589 [Gene - HGNC]
LINC00269:long intergenic non-protein coding RNA 269 [Gene - HGNC]
LINC03077:long intergenic non-protein coding RNA 3077 [Gene - HGNC]
LINC03098:long intergenic non-protein coding RNA 3098 [Gene - HGNC]
LINC00630:long intergenic non-protein coding RNA 630 [Gene - HGNC]
LINC00891:long intergenic non-protein coding RNA 891 [Gene - HGNC]
KDM5C:lysine demethylase 5C [Gene - OMIM - HGNC]
LPAR4:lysophosphatidic acid receptor 4 [Gene - OMIM - HGNC]
MAGT1:magnesium transporter 1 [Gene - OMIM - HGNC]
MED12:mediator complex subunit 12 [Gene - OMIM - HGNC]
MIR1264:microRNA 1264 [Gene - HGNC]
MIR1277:microRNA 1277 [Gene - HGNC]
MIR1298:microRNA 1298 [Gene - HGNC]
MIR1321:microRNA 1321 [Gene - HGNC]
MIR1468:microRNA 1468 [Gene - HGNC]
MIR1911:microRNA 1911 [Gene - HGNC]
MIR1912:microRNA 1912 [Gene - HGNC]
MIR223:microRNA 223 [Gene - OMIM - HGNC]
MIR325:microRNA 325 [Gene - HGNC]
MIR361:microRNA 361 [Gene - HGNC]
MIR374A:microRNA 374a [Gene - HGNC]
MIR374B:microRNA 374b [Gene - HGNC]
MIR374C:microRNA 374c [Gene - HGNC]
MIR384:microRNA 384 [Gene - HGNC]
MIR3978:microRNA 3978 [Gene - HGNC]
MIR421:microRNA 421 [Gene - HGNC]
MIR4328:microRNA 4328 [Gene - HGNC]
MIR4329:microRNA 4329 [Gene - HGNC]
MIR448:microRNA 448 [Gene - OMIM - HGNC]
MIR4536-1:microRNA 4536-1 [Gene - HGNC]
MIR4536-2:microRNA 4536-2 [Gene - HGNC]
MIR545:microRNA 545 [Gene - HGNC]
MIR548AN:microRNA 548an [Gene - HGNC]
MIR548I4:microRNA 548i-4 [Gene - HGNC]
MIR548M:microRNA 548m [Gene - HGNC]
MIR652:microRNA 652 [Gene - HGNC]
MIR676:microRNA 676 [Gene - HGNC]
MIR6857:microRNA 6857 [Gene - HGNC]
MIR6894:microRNA 6894 [Gene - HGNC]
MIR6895:microRNA 6895 [Gene - HGNC]
MIR764:microRNA 764 [Gene - HGNC]
MIR8088:microRNA 8088 [Gene - HGNC]
MIR98:microRNA 98 [Gene - OMIM - HGNC]
MIRLET7F2:microRNA let-7f-2 [Gene - OMIM - HGNC]
MID2:midline 2 [Gene - OMIM - HGNC]
MSN:moesin [Gene - OMIM - HGNC]
MORF4L2:mortality factor 4 like 2 [Gene - OMIM - HGNC]
MTMR8:myotubularin related protein 8 [Gene - OMIM - HGNC]
NBDY:negative regulator of P-body association [Gene - OMIM - HGNC]
NEXMIF:neurite extension and migration factor [Gene - OMIM - HGNC]
NLGN3:neuroligin 3 [Gene - OMIM - HGNC]
NONO:non-POU domain containing octamer binding [Gene - OMIM - HGNC]
NXF2:nuclear RNA export factor 2 [Gene - OMIM - HGNC]
NXF2B:nuclear RNA export factor 2B [Gene - HGNC]
NXF3:nuclear RNA export factor 3 [Gene - OMIM - HGNC]
NXF5:nuclear RNA export factor 5 [Gene - OMIM - HGNC]
NCBP2L:nuclear cap binding protein subunit 2 like [Gene - HGNC]
NXT2:nuclear transport factor 2 like export factor 2 [Gene - OMIM - HGNC]
NUP62CL:nucleoporin 62 C-terminal like [Gene - HGNC]
NAP1L2:nucleosome assembly protein 1 like 2 [Gene - OMIM - HGNC]
NAP1L3:nucleosome assembly protein 1 like 3 [Gene - OMIM - HGNC]
NUDT10:nudix hydrolase 10 [Gene - OMIM - HGNC]
NUDT11:nudix hydrolase 11 [Gene - OMIM - HGNC]
OPHN1:oligophrenin 1 [Gene - OMIM - HGNC]
PAK3:p21 (RAC1) activated kinase 3 [Gene - OMIM - HGNC]
PIN4:peptidylprolyl cis/trans isomerase, NIMA-interacting 4 [Gene - OMIM - HGNC]
PGK1:phosphoglycerate kinase 1 [Gene - OMIM - HGNC]
PGAM4:phosphoglycerate mutase family member 4 [Gene - OMIM - HGNC]
PRPS1:phosphoribosyl pyrophosphate synthetase 1 [Gene - OMIM - HGNC]
PHKA1:phosphorylase kinase regulatory subunit alpha 1 [Gene - OMIM - HGNC]
PLS3:plastin 3 [Gene - OMIM - HGNC]
PABPC1L2A:poly(A) binding protein cytoplasmic 1 like 2A [Gene - HGNC]
PABPC1L2B:poly(A) binding protein cytoplasmic 1 like 2B [Gene - HGNC]
PABPC5:poly(A) binding protein cytoplasmic 5 [Gene - OMIM - HGNC]
PBDC1:polysaccharide biosynthesis domain containing 1 [Gene - HGNC]
KCNE5:potassium voltage-gated channel subfamily E regulatory subunit 5 [Gene - OMIM - HGNC]
PJA1:praja ring finger ubiquitin ligase 1 [Gene - OMIM - HGNC]
PGRMC1:progesterone receptor membrane component 1 [Gene - OMIM - HGNC]
PSMD10:proteasome 26S subunit, non-ATPase 10 [Gene - OMIM - HGNC]
PLP1:proteolipid protein 1 [Gene - OMIM - HGNC]
PCDH11X:protocadherin 11 X-linked [Gene - OMIM - HGNC]
PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
P2RY4:pyrimidinergic receptor P2Y4 [Gene - OMIM - HGNC]
RPA4:replication protein A4 [Gene - OMIM - HGNC]
RTL3:retrotransposon Gag like 3 [Gene - HGNC]
RTL4:retrotransposon Gag like 4 [Gene - HGNC]
RTL5:retrotransposon Gag like 5 [Gene - HGNC]
RTL9:retrotransposon Gag like 9 [Gene - OMIM - HGNC]
RPL36A:ribosomal protein L36a [Gene - OMIM - HGNC]
RPS4X:ribosomal protein S4 X-linked [Gene - OMIM - HGNC]
RPS6KA6:ribosomal protein S6 kinase A6 [Gene - OMIM - HGNC]
RNF128:ring finger protein 128 [Gene - OMIM - HGNC]
RLIM:ring finger protein, LIM domain interacting [Gene - OMIM - HGNC]
RIPPLY1:ripply transcriptional repressor 1 [Gene - OMIM - HGNC]
SERTM2:serine rich and transmembrane domain containing 2 [Gene - HGNC]
SERPINA7:serpin family A member 7 [Gene - OMIM - HGNC]
SHROOM4:shroom family member 4 [Gene - OMIM - HGNC]
SNORD3E:small nucleolar RNA, C/D box 3E [Gene - HGNC]
SNORD96B:small nucleolar RNA, C/D box 96B [Gene - HGNC]
SNORA109:small nucleolar RNA, H/ACA box 109 [Gene - HGNC]
SNORA11:small nucleolar RNA, H/ACA box 11 [Gene - OMIM - HGNC]
SNORA11D:small nucleolar RNA, H/ACA box 11D [Gene - HGNC]
SNORA11E:small nucleolar RNA, H/ACA box 11E [Gene - HGNC]
SNORA11G:small nucleolar RNA, H/ACA box 11G [Gene - HGNC]
SNORA35:small nucleolar RNA, H/ACA box 35 [Gene - HGNC]
SNORA35B:small nucleolar RNA, H/ACA box 35B [Gene - HGNC]
SLC16A2:solute carrier family 16 member 2 [Gene - OMIM - HGNC]
SLC25A53:solute carrier family 25 member 53 [Gene - OMIM - HGNC]
SLC6A14:solute carrier family 6 member 14 [Gene - OMIM - HGNC]
SLC7A3:solute carrier family 7 member 3 [Gene - OMIM - HGNC]
SNX12:sorting nexin 12 [Gene - OMIM - HGNC]
SATL1:spermidine/spermine N1-acetyl transferase like 1 [Gene - HGNC]
SPIN2A:spindlin family member 2A [Gene - OMIM - HGNC]
SPIN2B:spindlin family member 2B [Gene - OMIM - HGNC]
SPIN3:spindlin family member 3 [Gene - HGNC]
SPIN4:spindlin family member 4 [Gene - OMIM - HGNC]
SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]
SRPX2:sushi repeat containing protein X-linked 2 [Gene - OMIM - HGNC]
SYTL4:synaptotagmin like 4 [Gene - OMIM - HGNC]
TCP11X1:t-complex 11 family, X-linked 1 [Gene - HGNC]
TCP11X2:t-complex 11 family, X-linked 2 [Gene - HGNC]
TRMT2B:tRNA methyltransferase 2 homolog B [Gene - HGNC]
TNMD:tenomodulin [Gene - OMIM - HGNC]
TENT5D:terminal nucleotidyltransferase 5D [Gene - OMIM - HGNC]
TEX11:testis expressed 11 [Gene - OMIM - HGNC]
TEX13A:testis expressed 13A [Gene - OMIM - HGNC]
TEX13B:testis expressed 13B [Gene - OMIM - HGNC]
TSPAN6:tetraspanin 6 [Gene - OMIM - HGNC]
TMSB15A:thymosin beta 15A [Gene - OMIM - HGNC]
TMSB15B:thymosin beta 15B [Gene - OMIM - HGNC]
TMSB15C:thymosin beta 15C [Gene - HGNC]
TCEAL1:transcription elongation factor A like 1 [Gene - OMIM - HGNC]
TCEAL2:transcription elongation factor A like 2 [Gene - HGNC]
TCEAL3:transcription elongation factor A like 3 [Gene - HGNC]
TCEAL4:transcription elongation factor A like 4 [Gene - HGNC]
TCEAL5:transcription elongation factor A like 5 [Gene - HGNC]
TCEAL6:transcription elongation factor A like 6 [Gene - HGNC]
TCEAL7:transcription elongation factor A like 7 [Gene - OMIM - HGNC]
TCEAL8:transcription elongation factor A like 8 [Gene - HGNC]
TCEAL9:transcription elongation factor A like 9 [Gene - HGNC]
TRPC5:transient receptor potential cation channel subfamily C member 5 [Gene - OMIM - HGNC]
TIMM8A:translocase of inner mitochondrial membrane 8A [Gene - OMIM - HGNC]
TMEM164:transmembrane protein 164 [Gene - HGNC]
TMEM31:transmembrane protein 31 [Gene - OMIM - HGNC]
TMEM35A:transmembrane protein 35A [Gene - HGNC]
TRO:trophinin [Gene - OMIM - HGNC]
UBQLN2:ubiquilin 2 [Gene - OMIM - HGNC]
USP51:ubiquitin specific peptidase 51 [Gene - HGNC]
LL0XNC01-250H12.3:uncharacterized LL0XNC01-250H12.3 [Gene]
LOC100126447:uncharacterized LOC100126447 [Gene]
LOC100132741:uncharacterized LOC100132741 [Gene]
LOC101928128:uncharacterized LOC101928128 [Gene]
LOC101928335:uncharacterized LOC101928335 [Gene]
LOC101928437:uncharacterized LOC101928437 [Gene]
LOC105373244:uncharacterized LOC105373244 [Gene]
LOC105373311:uncharacterized LOC105373311 [Gene]
LOC128031833:uncharacterized LOC128031833 [Gene]
LOC286437:uncharacterized LOC286437 [Gene]
UPRT:uracil phosphoribosyltransferase homolog [Gene - OMIM - HGNC]
ZC4H2:zinc finger C4H2-type containing [Gene - OMIM - HGNC]
ZC3H12B:zinc finger CCCH-type containing 12B [Gene - OMIM - HGNC]
ZCCHC12:zinc finger CCHC-type containing 12 [Gene - OMIM - HGNC]
ZCCHC13:zinc finger CCHC-type containing 13 [Gene - HGNC]
ZCCHC18:zinc finger CCHC-type containing 18 [Gene - HGNC]
ZDHHC15:zinc finger DHHC-type palmitoyltransferase 15 [Gene - OMIM - HGNC]
ZMYM3:zinc finger MYM-type containing 3 [Gene - OMIM - HGNC]
ZXDA:zinc finger X-linked duplicated A [Gene - OMIM - HGNC]
ZXDB:zinc finger X-linked duplicated B [Gene - OMIM - HGNC]
ZMAT1:zinc finger matrin-type 1 [Gene - OMIM - HGNC]
ZNF711:zinc finger protein 711 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

Xp11.22-q24

Genomic location:

Preferred name:

GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)

HGVS:

NC_000023.11:g.(?_50289384)_(119297604_?)del
NC_000023.10:g.(?_50032384)_(118431567_?)del
NC_000023.9:g.(?_50049124)_(118315595_?)del

Links:

dbVar: nssv3396862; dbVar: nsv995297

Observations:

Condition(s)

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

Recent activity

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Homo sapiens transmembrane protein 200B (TMEM200B), transcript variant 2, mRNA
Homo sapiens transmembrane protein 200B (TMEM200B), transcript variant 2, mRNA
gi|1519245640|ref|NM_001003682.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000182720	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Apr 29, 2013)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000182720

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Apr 29, 2013)

unknown

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]

PMID:: 20466091
PMCID:: PMC2869000

Details of each submission

From ISCA site 1, SCV000182720.4

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

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

Last Updated: Sep 1, 2024

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