GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 12, 2011
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000052879.7

Allele description [Variation Report for GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3]

GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3

Genes:

ADAMTS10:ADAM metallopeptidase with thrombospondin type 1 motif 10 [Gene - OMIM - HGNC]
LOC108783649:AMH 5' regulatory region [Gene]
ARHGEF18-AS1:ARHGEF18 antisense RNA 1 [Gene - HGNC]
LOC130063012:ATAC-STARR-seq lymphoblastoid active region 13640 [Gene]
LOC130063014:ATAC-STARR-seq lymphoblastoid active region 13641 [Gene]
LOC130063016:ATAC-STARR-seq lymphoblastoid active region 13643 [Gene]
LOC130063017:ATAC-STARR-seq lymphoblastoid active region 13644 [Gene]
LOC130063018:ATAC-STARR-seq lymphoblastoid active region 13645 [Gene]
LOC130063019:ATAC-STARR-seq lymphoblastoid active region 13646 [Gene]
LOC130063020:ATAC-STARR-seq lymphoblastoid active region 13647 [Gene]
LOC130063021:ATAC-STARR-seq lymphoblastoid active region 13648 [Gene]
LOC130063022:ATAC-STARR-seq lymphoblastoid active region 13650 [Gene]
LOC130063023:ATAC-STARR-seq lymphoblastoid active region 13651 [Gene]
LOC130063024:ATAC-STARR-seq lymphoblastoid active region 13652 [Gene]
LOC130063025:ATAC-STARR-seq lymphoblastoid active region 13654 [Gene]
LOC130063026:ATAC-STARR-seq lymphoblastoid active region 13655 [Gene]
LOC130063027:ATAC-STARR-seq lymphoblastoid active region 13657 [Gene]
LOC130063028:ATAC-STARR-seq lymphoblastoid active region 13658 [Gene]
LOC130063033:ATAC-STARR-seq lymphoblastoid active region 13664 [Gene]
LOC130063034:ATAC-STARR-seq lymphoblastoid active region 13665 [Gene]
LOC130063039:ATAC-STARR-seq lymphoblastoid active region 13668 [Gene]
LOC130063040:ATAC-STARR-seq lymphoblastoid active region 13669 [Gene]
LOC130063041:ATAC-STARR-seq lymphoblastoid active region 13670 [Gene]
LOC130063042:ATAC-STARR-seq lymphoblastoid active region 13671 [Gene]
LOC130063046:ATAC-STARR-seq lymphoblastoid active region 13672 [Gene]
LOC130063047:ATAC-STARR-seq lymphoblastoid active region 13673 [Gene]
LOC130063050:ATAC-STARR-seq lymphoblastoid active region 13674 [Gene]
LOC130063051:ATAC-STARR-seq lymphoblastoid active region 13675 [Gene]
LOC130063055:ATAC-STARR-seq lymphoblastoid active region 13676 [Gene]
LOC130063056:ATAC-STARR-seq lymphoblastoid active region 13677 [Gene]
LOC130063057:ATAC-STARR-seq lymphoblastoid active region 13678 [Gene]
LOC130063058:ATAC-STARR-seq lymphoblastoid active region 13679 [Gene]
LOC130063060:ATAC-STARR-seq lymphoblastoid active region 13680 [Gene]
LOC130063061:ATAC-STARR-seq lymphoblastoid active region 13683 [Gene]
LOC130063062:ATAC-STARR-seq lymphoblastoid active region 13684 [Gene]
LOC129929036:ATAC-STARR-seq lymphoblastoid active region 13685 [Gene]
LOC130063068:ATAC-STARR-seq lymphoblastoid active region 13686 [Gene]
LOC130063071:ATAC-STARR-seq lymphoblastoid active region 13687 [Gene]
LOC130063072:ATAC-STARR-seq lymphoblastoid active region 13691 [Gene]
LOC130063073:ATAC-STARR-seq lymphoblastoid active region 13692 [Gene]
LOC130063074:ATAC-STARR-seq lymphoblastoid active region 13693 [Gene]
LOC130063075:ATAC-STARR-seq lymphoblastoid active region 13694 [Gene]
LOC130063079:ATAC-STARR-seq lymphoblastoid active region 13696 [Gene]
LOC130063080:ATAC-STARR-seq lymphoblastoid active region 13697 [Gene]
LOC130063081:ATAC-STARR-seq lymphoblastoid active region 13698 [Gene]
LOC130063082:ATAC-STARR-seq lymphoblastoid active region 13702 [Gene]
LOC130063083:ATAC-STARR-seq lymphoblastoid active region 13703 [Gene]
LOC130063084:ATAC-STARR-seq lymphoblastoid active region 13707 [Gene]
LOC130063086:ATAC-STARR-seq lymphoblastoid active region 13708 [Gene]
LOC130063087:ATAC-STARR-seq lymphoblastoid active region 13709 [Gene]
LOC130063088:ATAC-STARR-seq lymphoblastoid active region 13710 [Gene]
LOC130063089:ATAC-STARR-seq lymphoblastoid active region 13711 [Gene]
LOC130063090:ATAC-STARR-seq lymphoblastoid active region 13713 [Gene]
LOC130063092:ATAC-STARR-seq lymphoblastoid active region 13714 [Gene]
LOC130063093:ATAC-STARR-seq lymphoblastoid active region 13715 [Gene]
LOC130063094:ATAC-STARR-seq lymphoblastoid active region 13716 [Gene]
LOC130063096:ATAC-STARR-seq lymphoblastoid active region 13717 [Gene]
LOC130063099:ATAC-STARR-seq lymphoblastoid active region 13718 [Gene]
LOC130063101:ATAC-STARR-seq lymphoblastoid active region 13719 [Gene]
LOC130063104:ATAC-STARR-seq lymphoblastoid active region 13720 [Gene]
LOC130063112:ATAC-STARR-seq lymphoblastoid active region 13722 [Gene]
LOC130063113:ATAC-STARR-seq lymphoblastoid active region 13723 [Gene]
LOC130063115:ATAC-STARR-seq lymphoblastoid active region 13724 [Gene]
LOC130063124:ATAC-STARR-seq lymphoblastoid active region 13727 [Gene]
LOC130063125:ATAC-STARR-seq lymphoblastoid active region 13728 [Gene]
LOC130063126:ATAC-STARR-seq lymphoblastoid active region 13729 [Gene]
LOC130063127:ATAC-STARR-seq lymphoblastoid active region 13730 [Gene]
LOC130063135:ATAC-STARR-seq lymphoblastoid active region 13732 [Gene]
LOC130063141:ATAC-STARR-seq lymphoblastoid active region 13733 [Gene]
LOC130063145:ATAC-STARR-seq lymphoblastoid active region 13735 [Gene]
LOC130063146:ATAC-STARR-seq lymphoblastoid active region 13736 [Gene]
LOC130063147:ATAC-STARR-seq lymphoblastoid active region 13737 [Gene]
LOC130063149:ATAC-STARR-seq lymphoblastoid active region 13738 [Gene]
LOC130063156:ATAC-STARR-seq lymphoblastoid active region 13740 [Gene]
LOC130063164:ATAC-STARR-seq lymphoblastoid active region 13742 [Gene]
LOC130063165:ATAC-STARR-seq lymphoblastoid active region 13743 [Gene]
LOC130063166:ATAC-STARR-seq lymphoblastoid active region 13744 [Gene]
LOC130063167:ATAC-STARR-seq lymphoblastoid active region 13745 [Gene]
LOC130063169:ATAC-STARR-seq lymphoblastoid active region 13746 [Gene]
LOC130063171:ATAC-STARR-seq lymphoblastoid active region 13748 [Gene]
LOC130063172:ATAC-STARR-seq lymphoblastoid active region 13750 [Gene]
LOC130063175:ATAC-STARR-seq lymphoblastoid active region 13751 [Gene]
LOC130063178:ATAC-STARR-seq lymphoblastoid active region 13752 [Gene]
LOC130063188:ATAC-STARR-seq lymphoblastoid active region 13753 [Gene]
LOC130063189:ATAC-STARR-seq lymphoblastoid active region 13754 [Gene]
LOC130063190:ATAC-STARR-seq lymphoblastoid active region 13755 [Gene]
LOC130063191:ATAC-STARR-seq lymphoblastoid active region 13757 [Gene]
LOC130063192:ATAC-STARR-seq lymphoblastoid active region 13758 [Gene]
LOC130063195:ATAC-STARR-seq lymphoblastoid active region 13759 [Gene]
LOC130063196:ATAC-STARR-seq lymphoblastoid active region 13760 [Gene]
LOC130063197:ATAC-STARR-seq lymphoblastoid active region 13761 [Gene]
LOC130063198:ATAC-STARR-seq lymphoblastoid active region 13762 [Gene]
LOC130063199:ATAC-STARR-seq lymphoblastoid active region 13763 [Gene]
LOC130063200:ATAC-STARR-seq lymphoblastoid active region 13764 [Gene]
LOC130063201:ATAC-STARR-seq lymphoblastoid active region 13766 [Gene]
LOC130063205:ATAC-STARR-seq lymphoblastoid active region 13767 [Gene]
LOC130063207:ATAC-STARR-seq lymphoblastoid active region 13771 [Gene]
LOC130063208:ATAC-STARR-seq lymphoblastoid active region 13772 [Gene]
LOC130063209:ATAC-STARR-seq lymphoblastoid active region 13773 [Gene]
LOC130063212:ATAC-STARR-seq lymphoblastoid active region 13774 [Gene]
LOC130063213:ATAC-STARR-seq lymphoblastoid active region 13775 [Gene]
LOC130063214:ATAC-STARR-seq lymphoblastoid active region 13776 [Gene]
LOC130063222:ATAC-STARR-seq lymphoblastoid active region 13778 [Gene]
LOC130063228:ATAC-STARR-seq lymphoblastoid active region 13783 [Gene]
LOC130063231:ATAC-STARR-seq lymphoblastoid active region 13784 [Gene]
LOC130063232:ATAC-STARR-seq lymphoblastoid active region 13785 [Gene]
LOC130063236:ATAC-STARR-seq lymphoblastoid active region 13787 [Gene]
LOC130063237:ATAC-STARR-seq lymphoblastoid active region 13788 [Gene]
LOC130063240:ATAC-STARR-seq lymphoblastoid active region 13789 [Gene]
LOC130063241:ATAC-STARR-seq lymphoblastoid active region 13790 [Gene]
LOC130063242:ATAC-STARR-seq lymphoblastoid active region 13791 [Gene]
LOC130063243:ATAC-STARR-seq lymphoblastoid active region 13792 [Gene]
LOC130063244:ATAC-STARR-seq lymphoblastoid active region 13796 [Gene]
LOC130063245:ATAC-STARR-seq lymphoblastoid active region 13797 [Gene]
LOC130063246:ATAC-STARR-seq lymphoblastoid active region 13798 [Gene]
LOC130063247:ATAC-STARR-seq lymphoblastoid active region 13799 [Gene]
LOC130063251:ATAC-STARR-seq lymphoblastoid active region 13800 [Gene]
LOC130063252:ATAC-STARR-seq lymphoblastoid active region 13801 [Gene]
LOC130063253:ATAC-STARR-seq lymphoblastoid active region 13802 [Gene]
LOC130063256:ATAC-STARR-seq lymphoblastoid active region 13805 [Gene]
LOC130063257:ATAC-STARR-seq lymphoblastoid active region 13806 [Gene]
LOC130063258:ATAC-STARR-seq lymphoblastoid active region 13807 [Gene]
LOC130063259:ATAC-STARR-seq lymphoblastoid active region 13808 [Gene]
LOC130063260:ATAC-STARR-seq lymphoblastoid active region 13809 [Gene]
LOC130063265:ATAC-STARR-seq lymphoblastoid active region 13810 [Gene]
LOC130063266:ATAC-STARR-seq lymphoblastoid active region 13811 [Gene]
LOC130063267:ATAC-STARR-seq lymphoblastoid active region 13812 [Gene]
LOC130063268:ATAC-STARR-seq lymphoblastoid active region 13813 [Gene]
LOC130063269:ATAC-STARR-seq lymphoblastoid active region 13814 [Gene]
LOC130063271:ATAC-STARR-seq lymphoblastoid active region 13816 [Gene]
LOC130063273:ATAC-STARR-seq lymphoblastoid active region 13817 [Gene]
LOC130063275:ATAC-STARR-seq lymphoblastoid active region 13818 [Gene]
LOC130063276:ATAC-STARR-seq lymphoblastoid active region 13819 [Gene]
LOC130063284:ATAC-STARR-seq lymphoblastoid active region 13821 [Gene]
LOC130063285:ATAC-STARR-seq lymphoblastoid active region 13822 [Gene]
LOC130063286:ATAC-STARR-seq lymphoblastoid active region 13823 [Gene]
LOC130063289:ATAC-STARR-seq lymphoblastoid active region 13824 [Gene]
LOC130063293:ATAC-STARR-seq lymphoblastoid active region 13825 [Gene]
LOC130063297:ATAC-STARR-seq lymphoblastoid active region 13827 [Gene]
LOC130063298:ATAC-STARR-seq lymphoblastoid active region 13828 [Gene]
LOC130063299:ATAC-STARR-seq lymphoblastoid active region 13829 [Gene]
LOC130063300:ATAC-STARR-seq lymphoblastoid active region 13830 [Gene]
LOC130063301:ATAC-STARR-seq lymphoblastoid active region 13831 [Gene]
LOC130063304:ATAC-STARR-seq lymphoblastoid active region 13832 [Gene]
LOC130063305:ATAC-STARR-seq lymphoblastoid active region 13833 [Gene]
LOC130063306:ATAC-STARR-seq lymphoblastoid active region 13834 [Gene]
LOC130063307:ATAC-STARR-seq lymphoblastoid active region 13835 [Gene]
LOC130063308:ATAC-STARR-seq lymphoblastoid active region 13836 [Gene]
LOC130063309:ATAC-STARR-seq lymphoblastoid active region 13837 [Gene]
LOC130063310:ATAC-STARR-seq lymphoblastoid active region 13838 [Gene]
LOC130063311:ATAC-STARR-seq lymphoblastoid active region 13839 [Gene]
LOC130063312:ATAC-STARR-seq lymphoblastoid active region 13840 [Gene]
LOC130063313:ATAC-STARR-seq lymphoblastoid active region 13841 [Gene]
LOC130063314:ATAC-STARR-seq lymphoblastoid active region 13844 [Gene]
LOC130063315:ATAC-STARR-seq lymphoblastoid active region 13845 [Gene]
LOC130063316:ATAC-STARR-seq lymphoblastoid active region 13846 [Gene]
LOC130063317:ATAC-STARR-seq lymphoblastoid active region 13847 [Gene]
LOC130063318:ATAC-STARR-seq lymphoblastoid active region 13848 [Gene]
LOC130063319:ATAC-STARR-seq lymphoblastoid active region 13849 [Gene]
LOC130063320:ATAC-STARR-seq lymphoblastoid active region 13850 [Gene]
LOC130063321:ATAC-STARR-seq lymphoblastoid active region 13851 [Gene]
LOC130063322:ATAC-STARR-seq lymphoblastoid active region 13852 [Gene]
LOC130063323:ATAC-STARR-seq lymphoblastoid active region 13853 [Gene]
LOC130063324:ATAC-STARR-seq lymphoblastoid active region 13854 [Gene]
LOC130063325:ATAC-STARR-seq lymphoblastoid active region 13855 [Gene]
LOC130063326:ATAC-STARR-seq lymphoblastoid active region 13856 [Gene]
LOC130063327:ATAC-STARR-seq lymphoblastoid active region 13857 [Gene]
LOC130063329:ATAC-STARR-seq lymphoblastoid active region 13859 [Gene]
LOC130063333:ATAC-STARR-seq lymphoblastoid active region 13861 [Gene]
LOC130063334:ATAC-STARR-seq lymphoblastoid active region 13862 [Gene]
LOC130063335:ATAC-STARR-seq lymphoblastoid active region 13863 [Gene]
LOC130063341:ATAC-STARR-seq lymphoblastoid active region 13864 [Gene]
LOC130063342:ATAC-STARR-seq lymphoblastoid active region 13866 [Gene]
LOC130063343:ATAC-STARR-seq lymphoblastoid active region 13867 [Gene]
LOC130063344:ATAC-STARR-seq lymphoblastoid active region 13868 [Gene]
LOC130063345:ATAC-STARR-seq lymphoblastoid active region 13869 [Gene]
LOC130063348:ATAC-STARR-seq lymphoblastoid active region 13870 [Gene]
LOC130063349:ATAC-STARR-seq lymphoblastoid active region 13871 [Gene]
LOC130063350:ATAC-STARR-seq lymphoblastoid active region 13872 [Gene]
LOC130063351:ATAC-STARR-seq lymphoblastoid active region 13874 [Gene]
LOC130063357:ATAC-STARR-seq lymphoblastoid active region 13875 [Gene]
LOC130063358:ATAC-STARR-seq lymphoblastoid active region 13876 [Gene]
LOC130063359:ATAC-STARR-seq lymphoblastoid active region 13877 [Gene]
LOC130063360:ATAC-STARR-seq lymphoblastoid active region 13878 [Gene]
LOC130063361:ATAC-STARR-seq lymphoblastoid active region 13879 [Gene]
LOC130063363:ATAC-STARR-seq lymphoblastoid active region 13880 [Gene]
LOC130063364:ATAC-STARR-seq lymphoblastoid active region 13881 [Gene]
LOC130063365:ATAC-STARR-seq lymphoblastoid active region 13882 [Gene]
LOC130063367:ATAC-STARR-seq lymphoblastoid active region 13883 [Gene]
LOC130063368:ATAC-STARR-seq lymphoblastoid active region 13884 [Gene]
LOC130063369:ATAC-STARR-seq lymphoblastoid active region 13885 [Gene]
LOC130063370:ATAC-STARR-seq lymphoblastoid active region 13886 [Gene]
LOC130063377:ATAC-STARR-seq lymphoblastoid active region 13887 [Gene]
LOC130063379:ATAC-STARR-seq lymphoblastoid active region 13888 [Gene]
LOC130063380:ATAC-STARR-seq lymphoblastoid active region 13889 [Gene]
LOC130063382:ATAC-STARR-seq lymphoblastoid active region 13890 [Gene]
LOC130063383:ATAC-STARR-seq lymphoblastoid active region 13891 [Gene]
LOC130063384:ATAC-STARR-seq lymphoblastoid active region 13892 [Gene]
LOC130063386:ATAC-STARR-seq lymphoblastoid active region 13893 [Gene]
LOC130063387:ATAC-STARR-seq lymphoblastoid active region 13894 [Gene]
LOC130063388:ATAC-STARR-seq lymphoblastoid active region 13895 [Gene]
LOC130063389:ATAC-STARR-seq lymphoblastoid active region 13896 [Gene]
LOC130063390:ATAC-STARR-seq lymphoblastoid active region 13897 [Gene]
LOC130063391:ATAC-STARR-seq lymphoblastoid active region 13898 [Gene]
LOC130063392:ATAC-STARR-seq lymphoblastoid active region 13899 [Gene]
LOC130063393:ATAC-STARR-seq lymphoblastoid active region 13900 [Gene]
LOC130063394:ATAC-STARR-seq lymphoblastoid active region 13901 [Gene]
LOC130063395:ATAC-STARR-seq lymphoblastoid active region 13902 [Gene]
LOC130063402:ATAC-STARR-seq lymphoblastoid active region 13904 [Gene]
LOC130063403:ATAC-STARR-seq lymphoblastoid active region 13905 [Gene]
LOC130063411:ATAC-STARR-seq lymphoblastoid active region 13906 [Gene]
LOC130063412:ATAC-STARR-seq lymphoblastoid active region 13907 [Gene]
LOC130063413:ATAC-STARR-seq lymphoblastoid active region 13908 [Gene]
LOC130063416:ATAC-STARR-seq lymphoblastoid active region 13910 [Gene]
LOC130063421:ATAC-STARR-seq lymphoblastoid active region 13913 [Gene]
LOC130063422:ATAC-STARR-seq lymphoblastoid active region 13914 [Gene]
LOC130063428:ATAC-STARR-seq lymphoblastoid active region 13916 [Gene]
LOC130063429:ATAC-STARR-seq lymphoblastoid active region 13917 [Gene]
LOC130063432:ATAC-STARR-seq lymphoblastoid active region 13918 [Gene]
LOC130063434:ATAC-STARR-seq lymphoblastoid active region 13919 [Gene]
LOC130063435:ATAC-STARR-seq lymphoblastoid active region 13920 [Gene]
LOC130063436:ATAC-STARR-seq lymphoblastoid active region 13921 [Gene]
LOC130063437:ATAC-STARR-seq lymphoblastoid active region 13922 [Gene]
LOC130063438:ATAC-STARR-seq lymphoblastoid active region 13923 [Gene]
LOC130063442:ATAC-STARR-seq lymphoblastoid active region 13924 [Gene]
LOC130063445:ATAC-STARR-seq lymphoblastoid active region 13925 [Gene]
LOC130063446:ATAC-STARR-seq lymphoblastoid active region 13926 [Gene]
LOC130063448:ATAC-STARR-seq lymphoblastoid active region 13927 [Gene]
LOC130063449:ATAC-STARR-seq lymphoblastoid active region 13928 [Gene]
LOC130063451:ATAC-STARR-seq lymphoblastoid active region 13929 [Gene]
LOC130063452:ATAC-STARR-seq lymphoblastoid active region 13930 [Gene]
LOC130063453:ATAC-STARR-seq lymphoblastoid active region 13931 [Gene]
LOC130063454:ATAC-STARR-seq lymphoblastoid active region 13932 [Gene]
LOC130063398:ATAC-STARR-seq lymphoblastoid silent region 10000 [Gene]
LOC130063399:ATAC-STARR-seq lymphoblastoid silent region 10001 [Gene]
LOC130063400:ATAC-STARR-seq lymphoblastoid silent region 10002 [Gene]
LOC130063401:ATAC-STARR-seq lymphoblastoid silent region 10003 [Gene]
LOC130063404:ATAC-STARR-seq lymphoblastoid silent region 10006 [Gene]
LOC130063405:ATAC-STARR-seq lymphoblastoid silent region 10007 [Gene]
LOC130063406:ATAC-STARR-seq lymphoblastoid silent region 10008 [Gene]
LOC130063407:ATAC-STARR-seq lymphoblastoid silent region 10009 [Gene]
LOC130063408:ATAC-STARR-seq lymphoblastoid silent region 10010 [Gene]
LOC130063409:ATAC-STARR-seq lymphoblastoid silent region 10011 [Gene]
LOC130063410:ATAC-STARR-seq lymphoblastoid silent region 10012 [Gene]
LOC130063414:ATAC-STARR-seq lymphoblastoid silent region 10013 [Gene]
LOC130063415:ATAC-STARR-seq lymphoblastoid silent region 10014 [Gene]
LOC130063417:ATAC-STARR-seq lymphoblastoid silent region 10016 [Gene]
LOC130063418:ATAC-STARR-seq lymphoblastoid silent region 10017 [Gene]
LOC130063419:ATAC-STARR-seq lymphoblastoid silent region 10018 [Gene]
LOC130063420:ATAC-STARR-seq lymphoblastoid silent region 10019 [Gene]
LOC130063423:ATAC-STARR-seq lymphoblastoid silent region 10020 [Gene]
LOC130063424:ATAC-STARR-seq lymphoblastoid silent region 10021 [Gene]
LOC130063425:ATAC-STARR-seq lymphoblastoid silent region 10024 [Gene]
LOC130063426:ATAC-STARR-seq lymphoblastoid silent region 10025 [Gene]
LOC130063427:ATAC-STARR-seq lymphoblastoid silent region 10026 [Gene]
LOC130063430:ATAC-STARR-seq lymphoblastoid silent region 10027 [Gene]
LOC130063431:ATAC-STARR-seq lymphoblastoid silent region 10030 [Gene]
LOC130063433:ATAC-STARR-seq lymphoblastoid silent region 10031 [Gene]
LOC130063439:ATAC-STARR-seq lymphoblastoid silent region 10032 [Gene]
LOC130063440:ATAC-STARR-seq lymphoblastoid silent region 10033 [Gene]
LOC130063441:ATAC-STARR-seq lymphoblastoid silent region 10034 [Gene]
LOC130063443:ATAC-STARR-seq lymphoblastoid silent region 10035 [Gene]
LOC130063444:ATAC-STARR-seq lymphoblastoid silent region 10036 [Gene]
LOC130063447:ATAC-STARR-seq lymphoblastoid silent region 10037 [Gene]
LOC130063450:ATAC-STARR-seq lymphoblastoid silent region 10038 [Gene]
LOC130063009:ATAC-STARR-seq lymphoblastoid silent region 9757 [Gene]
LOC130063010:ATAC-STARR-seq lymphoblastoid silent region 9758 [Gene]
LOC130063011:ATAC-STARR-seq lymphoblastoid silent region 9759 [Gene]
LOC130063013:ATAC-STARR-seq lymphoblastoid silent region 9761 [Gene]
LOC130063015:ATAC-STARR-seq lymphoblastoid silent region 9762 [Gene]
LOC130063029:ATAC-STARR-seq lymphoblastoid silent region 9768 [Gene]
LOC130063030:ATAC-STARR-seq lymphoblastoid silent region 9769 [Gene]
LOC130063031:ATAC-STARR-seq lymphoblastoid silent region 9770 [Gene]
LOC130063032:ATAC-STARR-seq lymphoblastoid silent region 9771 [Gene]
LOC130063035:ATAC-STARR-seq lymphoblastoid silent region 9773 [Gene]
LOC130063036:ATAC-STARR-seq lymphoblastoid silent region 9774 [Gene]
LOC130063037:ATAC-STARR-seq lymphoblastoid silent region 9775 [Gene]
LOC130063038:ATAC-STARR-seq lymphoblastoid silent region 9776 [Gene]
LOC130063043:ATAC-STARR-seq lymphoblastoid silent region 9778 [Gene]
LOC130063044:ATAC-STARR-seq lymphoblastoid silent region 9779 [Gene]
LOC130063045:ATAC-STARR-seq lymphoblastoid silent region 9780 [Gene]
LOC130063048:ATAC-STARR-seq lymphoblastoid silent region 9781 [Gene]
LOC130063049:ATAC-STARR-seq lymphoblastoid silent region 9782 [Gene]
LOC130063052:ATAC-STARR-seq lymphoblastoid silent region 9783 [Gene]
LOC130063053:ATAC-STARR-seq lymphoblastoid silent region 9784 [Gene]
LOC130063054:ATAC-STARR-seq lymphoblastoid silent region 9785 [Gene]
LOC130063059:ATAC-STARR-seq lymphoblastoid silent region 9786 [Gene]
LOC130063063:ATAC-STARR-seq lymphoblastoid silent region 9789 [Gene]
LOC130063064:ATAC-STARR-seq lymphoblastoid silent region 9790 [Gene]
LOC130063065:ATAC-STARR-seq lymphoblastoid silent region 9791 [Gene]
LOC130063066:ATAC-STARR-seq lymphoblastoid silent region 9792 [Gene]
LOC130063067:ATAC-STARR-seq lymphoblastoid silent region 9793 [Gene]
LOC130063069:ATAC-STARR-seq lymphoblastoid silent region 9794 [Gene]
LOC130063070:ATAC-STARR-seq lymphoblastoid silent region 9795 [Gene]
LOC130063076:ATAC-STARR-seq lymphoblastoid silent region 9797 [Gene]
LOC130063077:ATAC-STARR-seq lymphoblastoid silent region 9798 [Gene]
LOC130063078:ATAC-STARR-seq lymphoblastoid silent region 9799 [Gene]
LOC130063085:ATAC-STARR-seq lymphoblastoid silent region 9803 [Gene]
LOC130063091:ATAC-STARR-seq lymphoblastoid silent region 9804 [Gene]
LOC130063095:ATAC-STARR-seq lymphoblastoid silent region 9805 [Gene]
LOC130063097:ATAC-STARR-seq lymphoblastoid silent region 9806 [Gene]
LOC130063098:ATAC-STARR-seq lymphoblastoid silent region 9807 [Gene]
LOC130063100:ATAC-STARR-seq lymphoblastoid silent region 9808 [Gene]
LOC130063102:ATAC-STARR-seq lymphoblastoid silent region 9809 [Gene]
LOC130063103:ATAC-STARR-seq lymphoblastoid silent region 9810 [Gene]
LOC130063105:ATAC-STARR-seq lymphoblastoid silent region 9812 [Gene]
LOC130063106:ATAC-STARR-seq lymphoblastoid silent region 9813 [Gene]
LOC130063107:ATAC-STARR-seq lymphoblastoid silent region 9814 [Gene]
LOC130063108:ATAC-STARR-seq lymphoblastoid silent region 9815 [Gene]
LOC130063109:ATAC-STARR-seq lymphoblastoid silent region 9816 [Gene]
LOC130063110:ATAC-STARR-seq lymphoblastoid silent region 9817 [Gene]
LOC130063111:ATAC-STARR-seq lymphoblastoid silent region 9818 [Gene]
LOC130063114:ATAC-STARR-seq lymphoblastoid silent region 9819 [Gene]
LOC130063116:ATAC-STARR-seq lymphoblastoid silent region 9820 [Gene]
LOC130063117:ATAC-STARR-seq lymphoblastoid silent region 9821 [Gene]
LOC130063118:ATAC-STARR-seq lymphoblastoid silent region 9822 [Gene]
LOC130063119:ATAC-STARR-seq lymphoblastoid silent region 9823 [Gene]
LOC130063120:ATAC-STARR-seq lymphoblastoid silent region 9824 [Gene]
LOC130063121:ATAC-STARR-seq lymphoblastoid silent region 9829 [Gene]
LOC130063122:ATAC-STARR-seq lymphoblastoid silent region 9830 [Gene]
LOC130063123:ATAC-STARR-seq lymphoblastoid silent region 9831 [Gene]
LOC130063128:ATAC-STARR-seq lymphoblastoid silent region 9832 [Gene]
LOC130063129:ATAC-STARR-seq lymphoblastoid silent region 9833 [Gene]
LOC130063130:ATAC-STARR-seq lymphoblastoid silent region 9834 [Gene]
LOC130063131:ATAC-STARR-seq lymphoblastoid silent region 9835 [Gene]
LOC130063132:ATAC-STARR-seq lymphoblastoid silent region 9836 [Gene]
LOC130063133:ATAC-STARR-seq lymphoblastoid silent region 9837 [Gene]
LOC130063134:ATAC-STARR-seq lymphoblastoid silent region 9838 [Gene]
LOC130063136:ATAC-STARR-seq lymphoblastoid silent region 9839 [Gene]
LOC130063137:ATAC-STARR-seq lymphoblastoid silent region 9840 [Gene]
LOC130063138:ATAC-STARR-seq lymphoblastoid silent region 9841 [Gene]
LOC130063139:ATAC-STARR-seq lymphoblastoid silent region 9842 [Gene]
LOC130063140:ATAC-STARR-seq lymphoblastoid silent region 9843 [Gene]
LOC130063142:ATAC-STARR-seq lymphoblastoid silent region 9844 [Gene]
LOC130063143:ATAC-STARR-seq lymphoblastoid silent region 9845 [Gene]
LOC130063144:ATAC-STARR-seq lymphoblastoid silent region 9846 [Gene]
LOC130063148:ATAC-STARR-seq lymphoblastoid silent region 9847 [Gene]
LOC130063150:ATAC-STARR-seq lymphoblastoid silent region 9848 [Gene]
LOC130063151:ATAC-STARR-seq lymphoblastoid silent region 9849 [Gene]
LOC130063152:ATAC-STARR-seq lymphoblastoid silent region 9850 [Gene]
LOC130063153:ATAC-STARR-seq lymphoblastoid silent region 9851 [Gene]
LOC130063154:ATAC-STARR-seq lymphoblastoid silent region 9852 [Gene]
LOC130063155:ATAC-STARR-seq lymphoblastoid silent region 9853 [Gene]
LOC130063157:ATAC-STARR-seq lymphoblastoid silent region 9854 [Gene]
LOC130063158:ATAC-STARR-seq lymphoblastoid silent region 9855 [Gene]
LOC130063159:ATAC-STARR-seq lymphoblastoid silent region 9856 [Gene]
LOC130063160:ATAC-STARR-seq lymphoblastoid silent region 9857 [Gene]
LOC130063161:ATAC-STARR-seq lymphoblastoid silent region 9859 [Gene]
LOC130063162:ATAC-STARR-seq lymphoblastoid silent region 9860 [Gene]
LOC130063163:ATAC-STARR-seq lymphoblastoid silent region 9861 [Gene]
LOC130063168:ATAC-STARR-seq lymphoblastoid silent region 9864 [Gene]
LOC130063170:ATAC-STARR-seq lymphoblastoid silent region 9865 [Gene]
LOC130063173:ATAC-STARR-seq lymphoblastoid silent region 9868 [Gene]
LOC130063174:ATAC-STARR-seq lymphoblastoid silent region 9869 [Gene]
LOC130063176:ATAC-STARR-seq lymphoblastoid silent region 9870 [Gene]
LOC130063177:ATAC-STARR-seq lymphoblastoid silent region 9871 [Gene]
LOC130063179:ATAC-STARR-seq lymphoblastoid silent region 9872 [Gene]
LOC130063180:ATAC-STARR-seq lymphoblastoid silent region 9873 [Gene]
LOC130063181:ATAC-STARR-seq lymphoblastoid silent region 9874 [Gene]
LOC130063182:ATAC-STARR-seq lymphoblastoid silent region 9875 [Gene]
LOC130063183:ATAC-STARR-seq lymphoblastoid silent region 9876 [Gene]
LOC130063184:ATAC-STARR-seq lymphoblastoid silent region 9877 [Gene]
LOC130063185:ATAC-STARR-seq lymphoblastoid silent region 9878 [Gene]
LOC130063186:ATAC-STARR-seq lymphoblastoid silent region 9879 [Gene]
LOC130063187:ATAC-STARR-seq lymphoblastoid silent region 9880 [Gene]
LOC130063193:ATAC-STARR-seq lymphoblastoid silent region 9881 [Gene]
LOC130063194:ATAC-STARR-seq lymphoblastoid silent region 9882 [Gene]
LOC130063202:ATAC-STARR-seq lymphoblastoid silent region 9883 [Gene]
LOC130063203:ATAC-STARR-seq lymphoblastoid silent region 9884 [Gene]
LOC130063204:ATAC-STARR-seq lymphoblastoid silent region 9885 [Gene]
LOC130063206:ATAC-STARR-seq lymphoblastoid silent region 9886 [Gene]
LOC130063210:ATAC-STARR-seq lymphoblastoid silent region 9890 [Gene]
LOC130063211:ATAC-STARR-seq lymphoblastoid silent region 9891 [Gene]
LOC130063215:ATAC-STARR-seq lymphoblastoid silent region 9892 [Gene]
LOC130063216:ATAC-STARR-seq lymphoblastoid silent region 9893 [Gene]
LOC130063217:ATAC-STARR-seq lymphoblastoid silent region 9894 [Gene]
LOC130063218:ATAC-STARR-seq lymphoblastoid silent region 9895 [Gene]
LOC130063219:ATAC-STARR-seq lymphoblastoid silent region 9896 [Gene]
LOC130063220:ATAC-STARR-seq lymphoblastoid silent region 9897 [Gene]
LOC130063221:ATAC-STARR-seq lymphoblastoid silent region 9898 [Gene]
LOC130063223:ATAC-STARR-seq lymphoblastoid silent region 9900 [Gene]
LOC130063224:ATAC-STARR-seq lymphoblastoid silent region 9901 [Gene]
LOC130063225:ATAC-STARR-seq lymphoblastoid silent region 9902 [Gene]
LOC130063226:ATAC-STARR-seq lymphoblastoid silent region 9903 [Gene]
LOC130063227:ATAC-STARR-seq lymphoblastoid silent region 9904 [Gene]
LOC130063229:ATAC-STARR-seq lymphoblastoid silent region 9906 [Gene]
LOC130063230:ATAC-STARR-seq lymphoblastoid silent region 9907 [Gene]
LOC130063233:ATAC-STARR-seq lymphoblastoid silent region 9908 [Gene]
LOC130063234:ATAC-STARR-seq lymphoblastoid silent region 9909 [Gene]
LOC130063235:ATAC-STARR-seq lymphoblastoid silent region 9913 [Gene]
LOC130063238:ATAC-STARR-seq lymphoblastoid silent region 9914 [Gene]
LOC130063239:ATAC-STARR-seq lymphoblastoid silent region 9915 [Gene]
LOC130063248:ATAC-STARR-seq lymphoblastoid silent region 9920 [Gene]
LOC130063249:ATAC-STARR-seq lymphoblastoid silent region 9921 [Gene]
LOC130063250:ATAC-STARR-seq lymphoblastoid silent region 9922 [Gene]
LOC130063254:ATAC-STARR-seq lymphoblastoid silent region 9923 [Gene]
LOC130063255:ATAC-STARR-seq lymphoblastoid silent region 9924 [Gene]
LOC130063261:ATAC-STARR-seq lymphoblastoid silent region 9926 [Gene]
LOC130063262:ATAC-STARR-seq lymphoblastoid silent region 9927 [Gene]
LOC130063263:ATAC-STARR-seq lymphoblastoid silent region 9928 [Gene]
LOC130063264:ATAC-STARR-seq lymphoblastoid silent region 9929 [Gene]
LOC130063270:ATAC-STARR-seq lymphoblastoid silent region 9931 [Gene]
LOC130063272:ATAC-STARR-seq lymphoblastoid silent region 9936 [Gene]
LOC130063274:ATAC-STARR-seq lymphoblastoid silent region 9938 [Gene]
LOC130063277:ATAC-STARR-seq lymphoblastoid silent region 9939 [Gene]
LOC130063278:ATAC-STARR-seq lymphoblastoid silent region 9940 [Gene]
LOC130063279:ATAC-STARR-seq lymphoblastoid silent region 9941 [Gene]
LOC130063280:ATAC-STARR-seq lymphoblastoid silent region 9942 [Gene]
LOC130063281:ATAC-STARR-seq lymphoblastoid silent region 9943 [Gene]
LOC130063282:ATAC-STARR-seq lymphoblastoid silent region 9944 [Gene]
LOC130063283:ATAC-STARR-seq lymphoblastoid silent region 9945 [Gene]
LOC130063287:ATAC-STARR-seq lymphoblastoid silent region 9947 [Gene]
LOC130063288:ATAC-STARR-seq lymphoblastoid silent region 9948 [Gene]
LOC130063290:ATAC-STARR-seq lymphoblastoid silent region 9950 [Gene]
LOC130063291:ATAC-STARR-seq lymphoblastoid silent region 9951 [Gene]
LOC130063292:ATAC-STARR-seq lymphoblastoid silent region 9952 [Gene]
LOC130063294:ATAC-STARR-seq lymphoblastoid silent region 9954 [Gene]
LOC130063295:ATAC-STARR-seq lymphoblastoid silent region 9955 [Gene]
LOC130063296:ATAC-STARR-seq lymphoblastoid silent region 9956 [Gene]
LOC130063302:ATAC-STARR-seq lymphoblastoid silent region 9958 [Gene]
LOC130063303:ATAC-STARR-seq lymphoblastoid silent region 9959 [Gene]
LOC130063328:ATAC-STARR-seq lymphoblastoid silent region 9960 [Gene]
LOC130063330:ATAC-STARR-seq lymphoblastoid silent region 9961 [Gene]
LOC130063331:ATAC-STARR-seq lymphoblastoid silent region 9962 [Gene]
LOC130063332:ATAC-STARR-seq lymphoblastoid silent region 9963 [Gene]
LOC130063336:ATAC-STARR-seq lymphoblastoid silent region 9964 [Gene]
LOC130063337:ATAC-STARR-seq lymphoblastoid silent region 9966 [Gene]
LOC130063338:ATAC-STARR-seq lymphoblastoid silent region 9967 [Gene]
LOC130063339:ATAC-STARR-seq lymphoblastoid silent region 9968 [Gene]
LOC130063340:ATAC-STARR-seq lymphoblastoid silent region 9969 [Gene]
LOC130063346:ATAC-STARR-seq lymphoblastoid silent region 9970 [Gene]
LOC130063347:ATAC-STARR-seq lymphoblastoid silent region 9971 [Gene]
LOC130063352:ATAC-STARR-seq lymphoblastoid silent region 9973 [Gene]
LOC130063353:ATAC-STARR-seq lymphoblastoid silent region 9974 [Gene]
LOC130063354:ATAC-STARR-seq lymphoblastoid silent region 9975 [Gene]
LOC130063355:ATAC-STARR-seq lymphoblastoid silent region 9976 [Gene]
LOC130063356:ATAC-STARR-seq lymphoblastoid silent region 9977 [Gene]
LOC130063362:ATAC-STARR-seq lymphoblastoid silent region 9978 [Gene]
LOC130063366:ATAC-STARR-seq lymphoblastoid silent region 9980 [Gene]
LOC130063371:ATAC-STARR-seq lymphoblastoid silent region 9981 [Gene]
LOC130063372:ATAC-STARR-seq lymphoblastoid silent region 9982 [Gene]
LOC130063373:ATAC-STARR-seq lymphoblastoid silent region 9983 [Gene]
LOC130063374:ATAC-STARR-seq lymphoblastoid silent region 9984 [Gene]
LOC130063375:ATAC-STARR-seq lymphoblastoid silent region 9985 [Gene]
LOC130063376:ATAC-STARR-seq lymphoblastoid silent region 9986 [Gene]
LOC130063378:ATAC-STARR-seq lymphoblastoid silent region 9987 [Gene]
LOC130063381:ATAC-STARR-seq lymphoblastoid silent region 9989 [Gene]
LOC130063385:ATAC-STARR-seq lymphoblastoid silent region 9990 [Gene]
LOC130063396:ATAC-STARR-seq lymphoblastoid silent region 9991 [Gene]
LOC130063397:ATAC-STARR-seq lymphoblastoid silent region 9996 [Gene]
ATCAY:ATCAY kinesin light chain interacting caytaxin [Gene - OMIM - HGNC]
LOC126862841:BRD4-independent group 4 enhancer GRCh37_chr19:4703720-4704919 [Gene]
LOC126862846:BRD4-independent group 4 enhancer GRCh37_chr19:5648485-5649684 [Gene]
BTBD2:BTB domain containing 2 [Gene - OMIM - HGNC]
CCL25:C-C motif chemokine ligand 25 [Gene - OMIM - HGNC]
CLEC4G:C-type lectin domain family 4 member G [Gene - OMIM - HGNC]
CLEC4M:C-type lectin domain family 4 member M [Gene - OMIM - HGNC]
CACTIN-AS1:CACTIN antisense RNA 1 [Gene - HGNC]
CD209:CD209 molecule [Gene - OMIM - HGNC]
LOC117307477:CD209 promoter region [Gene]
CD320:CD320 molecule [Gene - OMIM - HGNC]
CD70:CD70 molecule [Gene - OMIM - HGNC]
LOC121627846:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:2168563-2169762 [Gene]
LOC126862842:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:4713085-4714284 [Gene]
LOC126862845:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:5611821-5613020 [Gene]
LOC126862847:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:5953075-5954274 [Gene]
LOC126862850:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:9650343-9651542 [Gene]
LOC117282006:CLEC4G promoter region [Gene]
LOC117307478:CLEC4M promoter region [Gene]
LOC116276499:CRISPRi-validated cis-regulatory element chr19.1096 [Gene]
LOC116276500:CRISPRi-validated cis-regulatory element chr19.1358 [Gene]
LOC116276497:CRISPRi-validated cis-regulatory element chr19.488 [Gene]
LOC116276498:CRISPRi-validated cis-regulatory element chr19.489 [Gene]
CELF5:CUGBP Elav-like family member 5 [Gene - OMIM - HGNC]
DENND1C:DENN domain containing 1C [Gene - OMIM - HGNC]
DIRAS1:DIRAS family GTPase 1 [Gene - OMIM - HGNC]
DOT1L:DOT1 like histone lysine methyltransferase [Gene - OMIM - HGNC]
DPP9-AS1:DPP9 antisense RNA 1 [Gene - HGNC]
ELAVL1:ELAV like RNA binding protein 1 [Gene - OMIM - HGNC]
EBI3:Epstein-Barr virus induced 3 [Gene - OMIM - HGNC]
FCER2:Fc epsilon receptor II [Gene - OMIM - HGNC]
GNA11:G protein subunit alpha 11 [Gene - OMIM - HGNC]
GNA15:G protein subunit alpha 15 [Gene - OMIM - HGNC]
GNG7:G protein subunit gamma 7 [Gene - OMIM - HGNC]
GPR108:G protein-coupled receptor 108 [Gene - OMIM - HGNC]
LOC111413022:GATA motif-containing MPRA enhancer 154 [Gene]
GIPC3:GIPC PDZ domain containing family member 3 [Gene - OMIM - HGNC]
GNA15-DT:GNA15 divergent transcript [Gene - HGNC]
LOC108348031:GNG7 intron CAGE-defined B cell enhancer [Gene]
HDGFL2:HDGF like 2 [Gene - OMIM - HGNC]
LOC111556134:HNF4 motif-containing MPRA enhancer 50 [Gene]
IZUMO4:IZUMO family member 4 [Gene - OMIM - HGNC]
KHSRP:KH-type splicing regulatory protein [Gene - OMIM - HGNC]
KANK3:KN motif and ankyrin repeat domains 3 [Gene - OMIM - HGNC]
LSM7:LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated [Gene - OMIM - HGNC]
MKNK2:MAPK interacting serine/threonine kinase 2 [Gene - OMIM - HGNC]
LOC126862844:MED14-independent group 3 enhancer GRCh37_chr19:5172675-5173874 [Gene]
LOC126862849:MED14-independent group 3 enhancer GRCh37_chr19:9150106-9151305 [Gene]
MIR7-3HG:MIR7-3 host gene [Gene - HGNC]
MLLT1:MLLT1 super elongation complex subunit [Gene - OMIM - HGNC]
MOB3A:MOB kinase activator 3A [Gene - HGNC]
MPND:MPN domain containing [Gene - HGNC]
LOC129391022:MPRA-validated peak3230 silencer [Gene]
LOC129391023:MPRA-validated peak3237 silencer [Gene]
LOC129391024:MPRA-validated peak3238 silencer [Gene]
LOC129391025:MPRA-validated peak3239 silencer [Gene]
LOC129391026:MPRA-validated peak3244 silencer [Gene]
LOC129391027:MPRA-validated peak3246 silencer [Gene]
LOC129391028:MPRA-validated peak3248 silencer [Gene]
LOC129391029:MPRA-validated peak3250 silencer [Gene]
LOC129391030:MPRA-validated peak3252 silencer [Gene]
LOC129391031:MPRA-validated peak3254 silencer [Gene]
LOC129391032:MPRA-validated peak3255 silencer [Gene]
LOC129391033:MPRA-validated peak3257 silencer [Gene]
LOC129391034:MPRA-validated peak3265 silencer [Gene]
LOC129391035:MPRA-validated peak3267 silencer [Gene]
LOC129391036:MPRA-validated peak3273 silencer [Gene]
LOC129391037:MPRA-validated peak3276 silencer [Gene]
LOC129391038:MPRA-validated peak3284 silencer [Gene]
LOC129391039:MPRA-validated peak3287 silencer [Gene]
LOC129391040:MPRA-validated peak3300 silencer [Gene]
LOC129391041:MPRA-validated peak3304 silencer [Gene]
LOC129391042:MPRA-validated peak3307 silencer [Gene]
LOC129391043:MPRA-validated peak3310 silencer [Gene]
LOC129391044:MPRA-validated peak3311 silencer [Gene]
LOC129391045:MPRA-validated peak3312 silencer [Gene]
LOC129391046:MPRA-validated peak3313 silencer [Gene]
LOC129391047:MPRA-validated peak3314 silencer [Gene]
LOC129391048:MPRA-validated peak3317 silencer [Gene]
LOC129391049:MPRA-validated peak3319 silencer [Gene]
LOC129391050:MPRA-validated peak3320 silencer [Gene]
LOC129391051:MPRA-validated peak3321 silencer [Gene]
LOC129391052:MPRA-validated peak3325 silencer [Gene]
LOC129391053:MPRA-validated peak3327 silencer [Gene]
LOC129391054:MPRA-validated peak3333 silencer [Gene]
LOC129391055:MPRA-validated peak3335 silencer [Gene]
LOC129391056:MPRA-validated peak3337 silencer [Gene]
LOC129391057:MPRA-validated peak3341 silencer [Gene]
NDUFA11:NADH:ubiquinone oxidoreductase subunit A11 [Gene - OMIM - HGNC]
NDUFA7:NADH:ubiquinone oxidoreductase subunit A7 [Gene - OMIM - HGNC]
NFILZ:NFIL3 like basic leucine zipper [Gene - HGNC]
LOC132090552:Neanderthal introgressed variant-containing enhancer experimental_51629 [Gene]
LOC132090553:Neanderthal introgressed variant-containing enhancer experimental_51701 [Gene]
LOC132090903:Neanderthal introgressed variant-containing enhancer experimental_51717 [Gene]
LOC132090555:Neanderthal introgressed variant-containing enhancer experimental_51725 [Gene]
LOC132090556:Neanderthal introgressed variant-containing enhancer experimental_51744 [Gene]
LOC126862839:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:2626979-2628178 [Gene]
LOC126862840:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:4694063-4695262 [Gene]
LOC126862843:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:4812531-4813730 [Gene]
LOC126862848:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:9070485-9071684 [Gene]
PEAK3:PEAK family member 3 [Gene - OMIM - HGNC]
PET100:PET100 cytochrome c oxidase chaperone [Gene - OMIM - HGNC]
PRAM1:PML-RARA regulated adaptor molecule 1 [Gene - OMIM - HGNC]
PTPRS-AS1:PTPRS antisense RNA 1 [Gene - HGNC]
PCP2:Purkinje cell protein 2 [Gene - OMIM - HGNC]
RAB11B-AS1:RAB11B antisense RNA 1 [Gene - HGNC]
RAB11B:RAB11B, member RAS oncogene family [Gene - OMIM - HGNC]
RANBP3:RAN binding protein 3 [Gene - OMIM - HGNC]
RANBP3-DT:RANBP3 divergent transcript [Gene - HGNC]
ARHGEF18:Rho/Rac guanine nucleotide exchange factor 18 [Gene - OMIM - HGNC]
SH2D3A:SH2 domain containing 3A [Gene - OMIM - HGNC]
SH3GL1:SH3 domain containing GRB2 like 1, endophilin A2 [Gene - OMIM - HGNC]
LOC112552148:Sharpr-MPRA regulatory region 10046 [Gene]
LOC125371451:Sharpr-MPRA regulatory region 10296 [Gene]
LOC112552174:Sharpr-MPRA regulatory region 10376 [Gene]
LOC113939974:Sharpr-MPRA regulatory region 11104 [Gene]
LOC121627848:Sharpr-MPRA regulatory region 11171 [Gene]
LOC112577456:Sharpr-MPRA regulatory region 11228 [Gene]
LOC125371465:Sharpr-MPRA regulatory region 11629 [Gene]
LOC125371455:Sharpr-MPRA regulatory region 11650 [Gene]
LOC121627853:Sharpr-MPRA regulatory region 11822 [Gene]
LOC125371471:Sharpr-MPRA regulatory region 12836 [Gene]
LOC112577455:Sharpr-MPRA regulatory region 13171 [Gene]
LOC112543480:Sharpr-MPRA regulatory region 13242 [Gene]
LOC113939970:Sharpr-MPRA regulatory region 13254 [Gene]
LOC121627852:Sharpr-MPRA regulatory region 13405 [Gene]
LOC125371452:Sharpr-MPRA regulatory region 13615 [Gene]
LOC113939971:Sharpr-MPRA regulatory region 15136 [Gene]
LOC125371453:Sharpr-MPRA regulatory region 15218 [Gene]
LOC125371473:Sharpr-MPRA regulatory region 15409 [Gene]
LOC125371461:Sharpr-MPRA regulatory region 2060 [Gene]
LOC121852973:Sharpr-MPRA regulatory region 208 [Gene]
LOC125371468:Sharpr-MPRA regulatory region 2174 [Gene]
LOC121627847:Sharpr-MPRA regulatory region 2271 [Gene]
LOC121627849:Sharpr-MPRA regulatory region 2607 [Gene]
LOC125371462:Sharpr-MPRA regulatory region 2774 [Gene]
LOC121627855:Sharpr-MPRA regulatory region 2878 [Gene]
LOC112543477:Sharpr-MPRA regulatory region 3019 [Gene]
LOC112552176:Sharpr-MPRA regulatory region 310 [Gene]
LOC112543481:Sharpr-MPRA regulatory region 323 [Gene]
LOC125371450:Sharpr-MPRA regulatory region 3290 [Gene]
LOC125371459:Sharpr-MPRA regulatory region 3293 [Gene]
LOC125371464:Sharpr-MPRA regulatory region 3427 [Gene]
LOC121852975:Sharpr-MPRA regulatory region 343 [Gene]
LOC125371470:Sharpr-MPRA regulatory region 3488 [Gene]
LOC125371469:Sharpr-MPRA regulatory region 3551 [Gene]
LOC121852974:Sharpr-MPRA regulatory region 3644 [Gene]
LOC121627854:Sharpr-MPRA regulatory region 4105 [Gene]
LOC112543475:Sharpr-MPRA regulatory region 4128 [Gene]
LOC112543476:Sharpr-MPRA regulatory region 4130 [Gene]
LOC121627851:Sharpr-MPRA regulatory region 4167 [Gene]
LOC125371467:Sharpr-MPRA regulatory region 435 [Gene]
LOC121852976:Sharpr-MPRA regulatory region 5032 [Gene]
LOC112543482:Sharpr-MPRA regulatory region 5698 [Gene]
LOC125371466:Sharpr-MPRA regulatory region 6634 [Gene]
LOC112543490:Sharpr-MPRA regulatory region 6873 [Gene]
LOC125371472:Sharpr-MPRA regulatory region 689 [Gene]
LOC125371460:Sharpr-MPRA regulatory region 7356 [Gene]
LOC121627850:Sharpr-MPRA regulatory region 7851 [Gene]
LOC121852972:Sharpr-MPRA regulatory region 8051 [Gene]
LOC112577457:Sharpr-MPRA regulatory region 8899 [Gene]
LOC112577458:Sharpr-MPRA regulatory region 9055 [Gene]
LOC125371463:Sharpr-MPRA regulatory region 9390 [Gene]
LOC125371457:Sharpr-MPRA regulatory region 9621 [Gene]
LOC112552175:Sharpr-MPRA regulatory region 9916 [Gene]
LOC111828491:Sharpr-MPRA regulatory regions 262 and 14493 [Gene]
LOC111828495:Sharpr-MPRA regulatory regions 733 and 12449 [Gene]
SHD:Src homology 2 domain containing transforming protein D [Gene - OMIM - HGNC]
TINCR:TINCR ubiquitin domain containing [Gene - OMIM - HGNC]
TICAM1:TIR domain containing adaptor molecule 1 [Gene - OMIM - HGNC]
TLE2:TLE family member 2, transcriptional corepressor [Gene - OMIM - HGNC]
TLE5:TLE family member 5, transcriptional modulator [Gene - OMIM - HGNC]
TLE6:TLE family member 6, subcortical maternal complex member [Gene - OMIM - HGNC]
TNFAIP8L1:TNF alpha induced protein 8 like 1 [Gene - OMIM - HGNC]
TNFSF14:TNF superfamily member 14 [Gene - OMIM - HGNC]
TNFSF9:TNF superfamily member 9 [Gene - OMIM - HGNC]
UBXN6:UBX domain protein 6 [Gene - OMIM - HGNC]
XAB2:XPA binding protein 2 [Gene - OMIM - HGNC]
YJU2:YJU2 splicing factor homolog [Gene - HGNC]
ZNF426-DT:ZNF426 divergent transcript [Gene - HGNC]
ZNF559-ZNF177:ZNF559-ZNF177 readthrough [Gene - HGNC]
ZNF561-AS1:ZNF561 antisense RNA 1 (head to head) [Gene - HGNC]
ACTL9:actin like 9 [Gene - OMIM - HGNC]
ACSBG2:acyl-CoA synthetase bubblegum family member 2 [Gene - OMIM - HGNC]
AP3D1:adaptor related protein complex 3 subunit delta 1 [Gene - OMIM - HGNC]
LOC390877:adenylate kinase isoenzyme 1-like [Gene]
ADGRE1:adhesion G protein-coupled receptor E1 [Gene - OMIM - HGNC]
ALKBH7:alkB homolog 7 [Gene - OMIM - HGNC]
ACER1:alkaline ceramidase 1 [Gene - OMIM - HGNC]
APBA3:amyloid beta precursor protein binding family A member 3 [Gene - OMIM - HGNC]
ANGPTL4:angiopoietin like 4 [Gene - OMIM - HGNC]
ANKRD24:ankyrin repeat domain 24 [Gene - OMIM - HGNC]
AMH:anti-Mullerian hormone [Gene - OMIM - HGNC]
ARRDC5:arrestin domain containing 5 [Gene - HGNC]
CREB3L3:cAMP responsive element binding protein 3 like 3 [Gene - OMIM - HGNC]
CACTIN:cactin, spliceosome C complex subunit [Gene - OMIM - HGNC]
CAPS:calcyphosine [Gene - OMIM - HGNC]
CAMSAP3:calmodulin regulated spectrin associated protein family member 3 [Gene - OMIM - HGNC]
CSNK1G2:casein kinase 1 gamma 2 [Gene - OMIM - HGNC]
CLPP:caseinolytic mitochondrial matrix peptidase proteolytic subunit [Gene - OMIM - HGNC]
CATSPERD:cation channel sperm associated auxiliary subunit delta [Gene - OMIM - HGNC]
CERS4:ceramide synthase 4 [Gene - OMIM - HGNC]
CHAF1A:chromatin assembly factor 1 subunit A [Gene - OMIM - HGNC]
C3:complement C3 [Gene - OMIM - HGNC]
CTXN1:cortexin 1 [Gene - OMIM - HGNC]
CRB3:crumbs cell polarity complex component 3 [Gene - OMIM - HGNC]
DAPK3:death associated protein kinase 3 [Gene - OMIM - HGNC]
DOHH:deoxyhypusine hydroxylase [Gene - OMIM - HGNC]
DUS3L:dihydrouridine synthase 3 like [Gene - HGNC]
DPP9:dipeptidyl peptidase 9 [Gene - OMIM - HGNC]
EVI5L:ecotropic viral integration site 5 like [Gene - HGNC]
EEF2:eukaryotic translation elongation factor 2 [Gene - OMIM - HGNC]
FEM1A:fem-1 homolog A [Gene - OMIM - HGNC]
FBN3:fibrillin 3 [Gene - OMIM - HGNC]
FSD1:fibronectin type III and SPRY domain containing 1 [Gene - OMIM - HGNC]
FZR1:fizzy and cell division cycle 20 related 1 [Gene - OMIM - HGNC]
FUT3:fucosyltransferase 3 (Lewis blood group) [Gene - OMIM - HGNC]
FUT5:fucosyltransferase 5 [Gene - OMIM - HGNC]
FUT6:fucosyltransferase 6 [Gene - OMIM - HGNC]
GTF2F1:general transcription factor IIF subunit 1 [Gene - OMIM - HGNC]
GADD45B:growth arrest and DNA damage inducible beta [Gene - OMIM - HGNC]
HNRNPM:heterogeneous nuclear ribonucleoprotein M [Gene - OMIM - HGNC]
HMG20B:high mobility group 20B [Gene - OMIM - HGNC]
HSD11B1L:hydroxysteroid 11-beta dehydrogenase 1 like [Gene - HGNC]
INSR:insulin receptor [Gene - OMIM - HGNC]
JSRP1:junctional sarcoplasmic reticulum protein 1 [Gene - OMIM - HGNC]
LMNB2:lamin B2 [Gene - OMIM - HGNC]
LRG1:leucine rich alpha-2-glycoprotein 1 [Gene - OMIM - HGNC]
LINGO3:leucine rich repeat and Ig domain containing 3 [Gene - OMIM - HGNC]
LRRC8E:leucine rich repeat containing 8 VRAC subunit E [Gene - OMIM - HGNC]
LONP1:lon peptidase 1, mitochondrial [Gene - OMIM - HGNC]
LINC01775:long intergenic non-protein coding RNA 1775 [Gene - HGNC]
KDM4B:lysine demethylase 4B [Gene - OMIM - HGNC]
MFSD12:major facilitator superfamily domain containing 12 [Gene - OMIM - HGNC]
MCEMP1:mast cell expressed membrane protein 1 [Gene - OMIM - HGNC]
MATK:megakaryocyte-associated tyrosine kinase [Gene - OMIM - HGNC]
LOC128772422:melanoma risk locus-associated MPRA allelic enhancer 19:3540539 [Gene]
LOC128772423:melanoma risk locus-associated MPRA allelic enhancer 19:3542983 [Gene]
LOC128772424:melanoma risk locus-associated MPRA allelic enhancer 19:3550926 [Gene]
MARCHF2:membrane associated ring-CH-type finger 2 [Gene - OMIM - HGNC]
MBD3L1:methyl-CpG binding domain protein 3 like 1 [Gene - OMIM - HGNC]
MBD3L2:methyl-CpG binding domain protein 3 like 2 [Gene - OMIM - HGNC]
MBD3L2B:methyl-CpG binding domain protein 3 like 2B [Gene - HGNC]
MBD3L3:methyl-CpG binding domain protein 3 like 3 [Gene - HGNC]
MBD3L4:methyl-CpG binding domain protein 3 like 4 [Gene - HGNC]
MBD3L5:methyl-CpG binding domain protein 3 like 5 [Gene - HGNC]
MIR1227:microRNA 1227 [Gene - HGNC]
MIR3940:microRNA 3940 [Gene - HGNC]
MIR4321:microRNA 4321 [Gene - HGNC]
MIR4746:microRNA 4746 [Gene - HGNC]
MIR4747:microRNA 4747 [Gene - HGNC]
MIR4999:microRNA 4999 [Gene - HGNC]
MIR637:microRNA 637 [Gene - HGNC]
MIR6789:microRNA 6789 [Gene - HGNC]
MIR6790:microRNA 6790 [Gene - HGNC]
MIR6791:microRNA 6791 [Gene - HGNC]
MIR6792:microRNA 6792 [Gene - HGNC]
MIR6885:microRNA 6885 [Gene - HGNC]
MIR7-3:microRNA 7-3 [Gene - HGNC]
MIR7108:microRNA 7108 [Gene - HGNC]
MIR7850:microRNA 7850 [Gene - HGNC]
MICOS13:mitochondrial contact site and cristae organizing system subunit 13 [Gene - OMIM - HGNC]
MRPL54:mitochondrial ribosomal protein L54 [Gene - OMIM - HGNC]
MAP2K2:mitogen-activated protein kinase kinase 2 [Gene - OMIM - HGNC]
MAP2K7:mitogen-activated protein kinase kinase 7 [Gene - OMIM - HGNC]
MUC16:mucin 16, cell surface associated [Gene - OMIM - HGNC]
MCOLN1:mucolipin TRP cation channel 1 [Gene - OMIM - HGNC]
MYDGF:myeloid derived growth factor [Gene - OMIM - HGNC]
MYO1F:myosin IF [Gene - OMIM - HGNC]
NRTN:neurturin [Gene - OMIM - HGNC]
NCLN:nicalin [Gene - OMIM - HGNC]
NMRK2:nicotinamide riboside kinase 2 [Gene - OMIM - HGNC]
NFIC:nuclear factor I C [Gene - OMIM - HGNC]
OR1M1:olfactory receptor family 1 subfamily M member 1 [Gene - HGNC]
OR2Z1:olfactory receptor family 2 subfamily Z member 1 [Gene - HGNC]
OR7D2:olfactory receptor family 7 subfamily D member 2 [Gene - HGNC]
OR7D4:olfactory receptor family 7 subfamily D member 4 [Gene - OMIM - HGNC]
OR7E24:olfactory receptor family 7 subfamily E member 24 [Gene - HGNC]
OR7G1:olfactory receptor family 7 subfamily G member 1 [Gene - HGNC]
OR7G2:olfactory receptor family 7 subfamily G member 2 [Gene - HGNC]
OR7G3:olfactory receptor family 7 subfamily G member 3 [Gene - HGNC]
LOC106804547:origin of replication adjacent to lamin B2 [Gene]
OAZ1:ornithine decarboxylase antizyme 1 [Gene - OMIM - HGNC]
PNPLA6:patatin like phospholipase domain containing 6 [Gene - OMIM - HGNC]
PLIN3:perilipin 3 [Gene - OMIM - HGNC]
PLIN4:perilipin 4 [Gene - OMIM - HGNC]
PLIN5:perilipin 5 [Gene - OMIM - HGNC]
PEX11G:peroxisomal biogenesis factor 11 gamma [Gene - OMIM - HGNC]
PSPN:persephin [Gene - OMIM - HGNC]
PIP5K1C:phosphatidylinositol-4-phosphate 5-kinase type 1 gamma [Gene - OMIM - HGNC]
PLEKHJ1:pleckstrin homology domain containing J1 [Gene - OMIM - HGNC]
PRR22:proline rich 22 [Gene - HGNC]
PRR36:proline rich 36 [Gene - HGNC]
PIAS4:protein inhibitor of activated STAT 4 [Gene - OMIM - HGNC]
PTPRS:protein tyrosine phosphatase receptor type S [Gene - OMIM - HGNC]
RFX2:regulatory factor X2 [Gene - OMIM - HGNC]
RETN:resistin [Gene - OMIM - HGNC]
RAX2:retina and anterior neural fold homeobox 2 [Gene - OMIM - HGNC]
RPL36:ribosomal protein L36 [Gene - OMIM - HGNC]
RPS28:ribosomal protein S28 [Gene - OMIM - HGNC]
SAFB2:scaffold attachment factor B2 [Gene - OMIM - HGNC]
SAFB:scaffold attachment factor B [Gene - OMIM - HGNC]
SEMA6B:semaphorin 6B [Gene - OMIM - HGNC]
SPPL2B:signal peptide peptidase like 2B [Gene - OMIM - HGNC]
STAP2:signal transducing adaptor family member 2 [Gene - OMIM - HGNC]
SIRT6:sirtuin 6 [Gene - OMIM - HGNC]
LOC111721712:skeletal muscle cis-regulatory module in NFIC intron [Gene]
SGTA:small glutamine rich tetratricopeptide repeat co-chaperone alpha [Gene - OMIM - HGNC]
SMIM24:small integral membrane protein 24 [Gene - HGNC]
SMIM44:small integral membrane protein 44 [Gene - HGNC]
SNAPC2:small nuclear RNA activating complex polypeptide 2 [Gene - OMIM - HGNC]
SNORD37:small nucleolar RNA, C/D box 37 [Gene - HGNC]
SLC25A23:solute carrier family 25 member 23 [Gene - OMIM - HGNC]
SLC25A41:solute carrier family 25 member 41 [Gene - OMIM - HGNC]
SLC39A3:solute carrier family 39 member 3 [Gene - OMIM - HGNC]
S1PR4:sphingosine-1-phosphate receptor 4 [Gene - OMIM - HGNC]
SF3A2:splicing factor 3a subunit 2 [Gene - OMIM - HGNC]
SAXO5:stabilizer of axonemal microtubules 5 [Gene - HGNC]
STXBP2:syntaxin binding protein 2 [Gene - OMIM - HGNC]
TRG-TCC1-1:tRNA-Gly (anticodon TCC) 1-1 [Gene - OMIM - HGNC]
TRV-CAC3-1:tRNA-Val (anticodon CAC) 3-1 [Gene - OMIM - HGNC]
TEKTIP1:tektin bundle interacting protein 1 [Gene - HGNC]
THOP1:thimet oligopeptidase 1 [Gene - OMIM - HGNC]
TBXA2R:thromboxane A2 receptor [Gene - OMIM - HGNC]
TRIP10:thyroid hormone receptor interactor 10 [Gene - OMIM - HGNC]
TJP3:tight junction protein 3 [Gene - OMIM - HGNC]
TRAPPC5:trafficking protein particle complex subunit 5 [Gene - HGNC]
TGFBR3L:transforming growth factor beta receptor 3 like [Gene - HGNC]
TIMM13:translocase of inner mitochondrial membrane 13 [Gene - OMIM - HGNC]
TIMM44:translocase of inner mitochondrial membrane 44 [Gene - OMIM - HGNC]
TMIGD2:transmembrane and immunoglobulin domain containing 2 [Gene - OMIM - HGNC]
TMPRSS9:transmembrane serine protease 9 [Gene - OMIM - HGNC]
TUBB4A:tubulin beta 4A class IVa [Gene - OMIM - HGNC]
UHRF1:ubiquitin like with PHD and ring finger domains 1 [Gene - OMIM - HGNC]
LOC101928844:uncharacterized LOC101928844 [Gene]
LOC105372244:uncharacterized LOC105372244 [Gene]
LOC105372253:uncharacterized LOC105372253 [Gene]
LOC105372255:uncharacterized LOC105372255 [Gene]
VAV1:vav guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
VMAC:vimentin type intermediate filament associated coiled-coil protein [Gene - OMIM - HGNC]
ZNRF4:zinc and ring finger 4 [Gene - OMIM - HGNC]
ZFR2:zinc finger RNA binding protein 2 [Gene - OMIM - HGNC]
ZBTB7A:zinc finger and BTB domain containing 7A [Gene - OMIM - HGNC]
ZNF121:zinc finger protein 121 [Gene - OMIM - HGNC]
ZNF177:zinc finger protein 177 [Gene - OMIM - HGNC]
ZNF266:zinc finger protein 266 [Gene - OMIM - HGNC]
ZNF317:zinc finger protein 317 [Gene - OMIM - HGNC]
ZNF358:zinc finger protein 358 [Gene - OMIM - HGNC]
ZNF414:zinc finger protein 414 [Gene - HGNC]
ZNF426:zinc finger protein 426 [Gene - HGNC]
ZNF554:zinc finger protein 554 [Gene - HGNC]
ZNF555:zinc finger protein 555 [Gene - HGNC]
ZNF556:zinc finger protein 556 [Gene - HGNC]
ZNF557:zinc finger protein 557 [Gene - HGNC]
ZNF558:zinc finger protein 558 [Gene - HGNC]
ZNF559:zinc finger protein 559 [Gene - HGNC]
ZNF560:zinc finger protein 560 [Gene - HGNC]
ZNF561:zinc finger protein 561 [Gene - HGNC]
ZNF562:zinc finger protein 562 [Gene - HGNC]
ZNF57:zinc finger protein 57 [Gene - HGNC]
ZNF699:zinc finger protein 699 [Gene - OMIM - HGNC]
ZNF77:zinc finger protein 77 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

19p13.3-13.2

Genomic location:

Preferred name:

GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3

HGVS:

NC_000019.10:g.(?_1972245)_(9648879_?)dup
NC_000019.8:g.(?_1923244)_(9620555_?)dup
NC_000019.9:g.(?_1972244)_(9759555_?)dup

Links:

dbVar: nssv578796; dbVar: nsv531593

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
SCV000080233	GeneDx	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Pathogenic (Aug 12, 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

SCV000080233

GeneDx

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))

Pathogenic
(Aug 12, 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

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

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

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

PubMed [citation]

PMID:: 21844811
PMCID:: PMC3661946

Details of each submission

From GeneDx, SCV000080233.5

#	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