GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 AND See cases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 18, 2014
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000143746.6
Allele description [Variation Report for GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1]
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1
- Genes:
- ADAMTS19:ADAM metallopeptidase with thrombospondin type 1 motif 19 [Gene - OMIM - HGNC]
- ADAMTS19-AS1:ADAMTS19 antisense RNA 1 [Gene - HGNC]
- ARL14EPL:ADP ribosylation factor like GTPase 14 effector protein like [Gene - HGNC]
- APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
- ARB2A:ARB2 cotranscriptional regulator A [Gene - HGNC]
- ARRDC3-AS1:ARRDC3 antisense RNA 1 [Gene - HGNC]
- LOC129994213:ATAC-STARR-seq lymphoblastoid active region 22788 [Gene]
- LOC129994217:ATAC-STARR-seq lymphoblastoid active region 22789 [Gene]
- LOC129994218:ATAC-STARR-seq lymphoblastoid active region 22791 [Gene]
- LOC129994219:ATAC-STARR-seq lymphoblastoid active region 22792 [Gene]
- LOC129994220:ATAC-STARR-seq lymphoblastoid active region 22793 [Gene]
- LOC129994221:ATAC-STARR-seq lymphoblastoid active region 22795 [Gene]
- LOC129994222:ATAC-STARR-seq lymphoblastoid active region 22796 [Gene]
- LOC129994223:ATAC-STARR-seq lymphoblastoid active region 22797 [Gene]
- LOC129994228:ATAC-STARR-seq lymphoblastoid active region 22798 [Gene]
- LOC129994229:ATAC-STARR-seq lymphoblastoid active region 22799 [Gene]
- LOC129994230:ATAC-STARR-seq lymphoblastoid active region 22800 [Gene]
- LOC129994233:ATAC-STARR-seq lymphoblastoid active region 22801 [Gene]
- LOC129994234:ATAC-STARR-seq lymphoblastoid active region 22802 [Gene]
- LOC129994235:ATAC-STARR-seq lymphoblastoid active region 22803 [Gene]
- LOC129994236:ATAC-STARR-seq lymphoblastoid active region 22804 [Gene]
- LOC129994237:ATAC-STARR-seq lymphoblastoid active region 22805 [Gene]
- LOC129994238:ATAC-STARR-seq lymphoblastoid active region 22806 [Gene]
- LOC129994239:ATAC-STARR-seq lymphoblastoid active region 22807 [Gene]
- LOC129994240:ATAC-STARR-seq lymphoblastoid active region 22808 [Gene]
- LOC129994241:ATAC-STARR-seq lymphoblastoid active region 22809 [Gene]
- LOC129994242:ATAC-STARR-seq lymphoblastoid active region 22810 [Gene]
- LOC129994243:ATAC-STARR-seq lymphoblastoid active region 22811 [Gene]
- LOC129994244:ATAC-STARR-seq lymphoblastoid active region 22812 [Gene]
- LOC129994245:ATAC-STARR-seq lymphoblastoid active region 22813 [Gene]
- LOC129994248:ATAC-STARR-seq lymphoblastoid active region 22814 [Gene]
- LOC129994249:ATAC-STARR-seq lymphoblastoid active region 22815 [Gene]
- LOC129994252:ATAC-STARR-seq lymphoblastoid active region 22816 [Gene]
- LOC129994253:ATAC-STARR-seq lymphoblastoid active region 22817 [Gene]
- LOC129994255:ATAC-STARR-seq lymphoblastoid active region 22818 [Gene]
- LOC129994256:ATAC-STARR-seq lymphoblastoid active region 22819 [Gene]
- LOC129994257:ATAC-STARR-seq lymphoblastoid active region 22820 [Gene]
- LOC129994258:ATAC-STARR-seq lymphoblastoid active region 22821 [Gene]
- LOC129994259:ATAC-STARR-seq lymphoblastoid active region 22822 [Gene]
- LOC129994260:ATAC-STARR-seq lymphoblastoid active region 22823 [Gene]
- LOC129994261:ATAC-STARR-seq lymphoblastoid active region 22824 [Gene]
- LOC129994262:ATAC-STARR-seq lymphoblastoid active region 22825 [Gene]
- LOC129994263:ATAC-STARR-seq lymphoblastoid active region 22826 [Gene]
- LOC129994265:ATAC-STARR-seq lymphoblastoid active region 22827 [Gene]
- LOC129994267:ATAC-STARR-seq lymphoblastoid active region 22828 [Gene]
- LOC129994271:ATAC-STARR-seq lymphoblastoid active region 22829 [Gene]
- LOC129994272:ATAC-STARR-seq lymphoblastoid active region 22830 [Gene]
- LOC129994274:ATAC-STARR-seq lymphoblastoid active region 22831 [Gene]
- LOC129994275:ATAC-STARR-seq lymphoblastoid active region 22832 [Gene]
- LOC129994276:ATAC-STARR-seq lymphoblastoid active region 22833 [Gene]
- LOC129994277:ATAC-STARR-seq lymphoblastoid active region 22834 [Gene]
- LOC129994278:ATAC-STARR-seq lymphoblastoid active region 22835 [Gene]
- LOC129994279:ATAC-STARR-seq lymphoblastoid active region 22836 [Gene]
- LOC129994281:ATAC-STARR-seq lymphoblastoid active region 22838 [Gene]
- LOC129994282:ATAC-STARR-seq lymphoblastoid active region 22839 [Gene]
- LOC129994283:ATAC-STARR-seq lymphoblastoid active region 22840 [Gene]
- LOC129994284:ATAC-STARR-seq lymphoblastoid active region 22841 [Gene]
- LOC129994285:ATAC-STARR-seq lymphoblastoid active region 22842 [Gene]
- LOC129994286:ATAC-STARR-seq lymphoblastoid active region 22843 [Gene]
- LOC129994288:ATAC-STARR-seq lymphoblastoid active region 22845 [Gene]
- LOC129994289:ATAC-STARR-seq lymphoblastoid active region 22846 [Gene]
- LOC129994290:ATAC-STARR-seq lymphoblastoid active region 22847 [Gene]
- LOC129994291:ATAC-STARR-seq lymphoblastoid active region 22848 [Gene]
- LOC129994292:ATAC-STARR-seq lymphoblastoid active region 22849 [Gene]
- LOC129994293:ATAC-STARR-seq lymphoblastoid active region 22850 [Gene]
- LOC129994294:ATAC-STARR-seq lymphoblastoid active region 22851 [Gene]
- LOC129994295:ATAC-STARR-seq lymphoblastoid active region 22852 [Gene]
- LOC129994296:ATAC-STARR-seq lymphoblastoid active region 22853 [Gene]
- LOC129994297:ATAC-STARR-seq lymphoblastoid active region 22854 [Gene]
- LOC129994300:ATAC-STARR-seq lymphoblastoid active region 22856 [Gene]
- LOC129994302:ATAC-STARR-seq lymphoblastoid active region 22858 [Gene]
- LOC129994303:ATAC-STARR-seq lymphoblastoid active region 22859 [Gene]
- LOC129994304:ATAC-STARR-seq lymphoblastoid active region 22860 [Gene]
- LOC129994307:ATAC-STARR-seq lymphoblastoid active region 22861 [Gene]
- LOC129994308:ATAC-STARR-seq lymphoblastoid active region 22862 [Gene]
- LOC129994309:ATAC-STARR-seq lymphoblastoid active region 22863 [Gene]
- LOC129994310:ATAC-STARR-seq lymphoblastoid active region 22864 [Gene]
- LOC129994312:ATAC-STARR-seq lymphoblastoid active region 22867 [Gene]
- LOC129994313:ATAC-STARR-seq lymphoblastoid active region 22868 [Gene]
- LOC129994315:ATAC-STARR-seq lymphoblastoid active region 22869 [Gene]
- LOC129994317:ATAC-STARR-seq lymphoblastoid active region 22870 [Gene]
- LOC129994321:ATAC-STARR-seq lymphoblastoid active region 22872 [Gene]
- LOC129994322:ATAC-STARR-seq lymphoblastoid active region 22873 [Gene]
- LOC129994323:ATAC-STARR-seq lymphoblastoid active region 22874 [Gene]
- LOC129994324:ATAC-STARR-seq lymphoblastoid active region 22875 [Gene]
- LOC129994328:ATAC-STARR-seq lymphoblastoid active region 22876 [Gene]
- LOC129994332:ATAC-STARR-seq lymphoblastoid active region 22878 [Gene]
- LOC129994333:ATAC-STARR-seq lymphoblastoid active region 22879 [Gene]
- LOC129994334:ATAC-STARR-seq lymphoblastoid active region 22880 [Gene]
- LOC129994336:ATAC-STARR-seq lymphoblastoid active region 22881 [Gene]
- LOC129994337:ATAC-STARR-seq lymphoblastoid active region 22882 [Gene]
- LOC129994342:ATAC-STARR-seq lymphoblastoid active region 22884 [Gene]
- LOC129994343:ATAC-STARR-seq lymphoblastoid active region 22885 [Gene]
- LOC129994344:ATAC-STARR-seq lymphoblastoid active region 22886 [Gene]
- LOC129994345:ATAC-STARR-seq lymphoblastoid active region 22887 [Gene]
- LOC129994346:ATAC-STARR-seq lymphoblastoid active region 22888 [Gene]
- LOC129994347:ATAC-STARR-seq lymphoblastoid active region 22889 [Gene]
- LOC129994348:ATAC-STARR-seq lymphoblastoid active region 22890 [Gene]
- LOC129994350:ATAC-STARR-seq lymphoblastoid active region 22891 [Gene]
- LOC129994354:ATAC-STARR-seq lymphoblastoid active region 22892 [Gene]
- LOC129994355:ATAC-STARR-seq lymphoblastoid active region 22893 [Gene]
- LOC129994356:ATAC-STARR-seq lymphoblastoid active region 22894 [Gene]
- LOC129994357:ATAC-STARR-seq lymphoblastoid active region 22895 [Gene]
- LOC129994358:ATAC-STARR-seq lymphoblastoid active region 22896 [Gene]
- LOC129994359:ATAC-STARR-seq lymphoblastoid active region 22897 [Gene]
- LOC129994360:ATAC-STARR-seq lymphoblastoid active region 22898 [Gene]
- LOC129994361:ATAC-STARR-seq lymphoblastoid active region 22899 [Gene]
- LOC129994363:ATAC-STARR-seq lymphoblastoid active region 22900 [Gene]
- LOC129994364:ATAC-STARR-seq lymphoblastoid active region 22901 [Gene]
- LOC129994365:ATAC-STARR-seq lymphoblastoid active region 22903 [Gene]
- LOC129994368:ATAC-STARR-seq lymphoblastoid active region 22904 [Gene]
- LOC129994371:ATAC-STARR-seq lymphoblastoid active region 22910 [Gene]
- LOC129994375:ATAC-STARR-seq lymphoblastoid active region 22913 [Gene]
- LOC129994377:ATAC-STARR-seq lymphoblastoid active region 22914 [Gene]
- LOC129994378:ATAC-STARR-seq lymphoblastoid active region 22915 [Gene]
- LOC129994379:ATAC-STARR-seq lymphoblastoid active region 22916 [Gene]
- LOC129994381:ATAC-STARR-seq lymphoblastoid active region 22921 [Gene]
- LOC129994384:ATAC-STARR-seq lymphoblastoid active region 22922 [Gene]
- LOC129994385:ATAC-STARR-seq lymphoblastoid active region 22923 [Gene]
- LOC129994388:ATAC-STARR-seq lymphoblastoid active region 22925 [Gene]
- LOC129994390:ATAC-STARR-seq lymphoblastoid active region 22926 [Gene]
- LOC129994391:ATAC-STARR-seq lymphoblastoid active region 22927 [Gene]
- LOC129994393:ATAC-STARR-seq lymphoblastoid active region 22928 [Gene]
- LOC129994394:ATAC-STARR-seq lymphoblastoid active region 22929 [Gene]
- LOC129994395:ATAC-STARR-seq lymphoblastoid active region 22930 [Gene]
- LOC129994396:ATAC-STARR-seq lymphoblastoid active region 22931 [Gene]
- LOC129994397:ATAC-STARR-seq lymphoblastoid active region 22932 [Gene]
- LOC129994398:ATAC-STARR-seq lymphoblastoid active region 22933 [Gene]
- LOC129994399:ATAC-STARR-seq lymphoblastoid active region 22934 [Gene]
- LOC129994402:ATAC-STARR-seq lymphoblastoid active region 22936 [Gene]
- LOC129994405:ATAC-STARR-seq lymphoblastoid active region 22939 [Gene]
- LOC129994406:ATAC-STARR-seq lymphoblastoid active region 22940 [Gene]
- LOC129994407:ATAC-STARR-seq lymphoblastoid active region 22941 [Gene]
- LOC129994408:ATAC-STARR-seq lymphoblastoid active region 22942 [Gene]
- LOC129994409:ATAC-STARR-seq lymphoblastoid active region 22943 [Gene]
- LOC129994410:ATAC-STARR-seq lymphoblastoid active region 22944 [Gene]
- LOC129994412:ATAC-STARR-seq lymphoblastoid active region 22945 [Gene]
- LOC129994415:ATAC-STARR-seq lymphoblastoid active region 22946 [Gene]
- LOC129994416:ATAC-STARR-seq lymphoblastoid active region 22948 [Gene]
- LOC129994417:ATAC-STARR-seq lymphoblastoid active region 22950 [Gene]
- LOC129994418:ATAC-STARR-seq lymphoblastoid active region 22951 [Gene]
- LOC129994419:ATAC-STARR-seq lymphoblastoid active region 22952 [Gene]
- LOC129994420:ATAC-STARR-seq lymphoblastoid active region 22953 [Gene]
- LOC129994421:ATAC-STARR-seq lymphoblastoid active region 22954 [Gene]
- LOC129994422:ATAC-STARR-seq lymphoblastoid active region 22955 [Gene]
- LOC129994423:ATAC-STARR-seq lymphoblastoid active region 22956 [Gene]
- LOC129994425:ATAC-STARR-seq lymphoblastoid active region 22957 [Gene]
- LOC129994426:ATAC-STARR-seq lymphoblastoid active region 22958 [Gene]
- LOC129994429:ATAC-STARR-seq lymphoblastoid active region 22959 [Gene]
- LOC129994431:ATAC-STARR-seq lymphoblastoid active region 22960 [Gene]
- LOC129994432:ATAC-STARR-seq lymphoblastoid active region 22961 [Gene]
- LOC129994434:ATAC-STARR-seq lymphoblastoid active region 22962 [Gene]
- LOC129994435:ATAC-STARR-seq lymphoblastoid active region 22963 [Gene]
- LOC129994436:ATAC-STARR-seq lymphoblastoid active region 22964 [Gene]
- LOC129994437:ATAC-STARR-seq lymphoblastoid active region 22965 [Gene]
- LOC129994438:ATAC-STARR-seq lymphoblastoid active region 22966 [Gene]
- LOC129994439:ATAC-STARR-seq lymphoblastoid active region 22967 [Gene]
- LOC129994440:ATAC-STARR-seq lymphoblastoid active region 22968 [Gene]
- LOC129994441:ATAC-STARR-seq lymphoblastoid active region 22969 [Gene]
- LOC129994442:ATAC-STARR-seq lymphoblastoid active region 22971 [Gene]
- LOC129994443:ATAC-STARR-seq lymphoblastoid active region 22972 [Gene]
- LOC129994444:ATAC-STARR-seq lymphoblastoid active region 22973 [Gene]
- LOC129994445:ATAC-STARR-seq lymphoblastoid active region 22974 [Gene]
- LOC129994446:ATAC-STARR-seq lymphoblastoid active region 22975 [Gene]
- LOC129994447:ATAC-STARR-seq lymphoblastoid active region 22976 [Gene]
- LOC129994448:ATAC-STARR-seq lymphoblastoid active region 22977 [Gene]
- LOC129994449:ATAC-STARR-seq lymphoblastoid active region 22978 [Gene]
- LOC129994451:ATAC-STARR-seq lymphoblastoid active region 22979 [Gene]
- LOC129994452:ATAC-STARR-seq lymphoblastoid active region 22980 [Gene]
- LOC129994453:ATAC-STARR-seq lymphoblastoid active region 22981 [Gene]
- LOC129994454:ATAC-STARR-seq lymphoblastoid active region 22982 [Gene]
- LOC129994455:ATAC-STARR-seq lymphoblastoid active region 22983 [Gene]
- LOC129994456:ATAC-STARR-seq lymphoblastoid active region 22984 [Gene]
- LOC129994457:ATAC-STARR-seq lymphoblastoid active region 22985 [Gene]
- LOC129994458:ATAC-STARR-seq lymphoblastoid active region 22986 [Gene]
- LOC129994459:ATAC-STARR-seq lymphoblastoid active region 22987 [Gene]
- LOC129994460:ATAC-STARR-seq lymphoblastoid active region 22989 [Gene]
- LOC129994461:ATAC-STARR-seq lymphoblastoid active region 22990 [Gene]
- LOC129994462:ATAC-STARR-seq lymphoblastoid active region 22991 [Gene]
- LOC129994463:ATAC-STARR-seq lymphoblastoid active region 22992 [Gene]
- LOC129994466:ATAC-STARR-seq lymphoblastoid active region 22995 [Gene]
- LOC129994467:ATAC-STARR-seq lymphoblastoid active region 22996 [Gene]
- LOC129994468:ATAC-STARR-seq lymphoblastoid active region 22997 [Gene]
- LOC129994470:ATAC-STARR-seq lymphoblastoid active region 22998 [Gene]
- LOC129994471:ATAC-STARR-seq lymphoblastoid active region 22999 [Gene]
- LOC129994472:ATAC-STARR-seq lymphoblastoid active region 23000 [Gene]
- LOC129994473:ATAC-STARR-seq lymphoblastoid active region 23001 [Gene]
- LOC129994476:ATAC-STARR-seq lymphoblastoid active region 23002 [Gene]
- LOC129994479:ATAC-STARR-seq lymphoblastoid active region 23003 [Gene]
- LOC129994480:ATAC-STARR-seq lymphoblastoid active region 23004 [Gene]
- LOC129994483:ATAC-STARR-seq lymphoblastoid active region 23005 [Gene]
- LOC129994484:ATAC-STARR-seq lymphoblastoid active region 23006 [Gene]
- LOC129994485:ATAC-STARR-seq lymphoblastoid active region 23007 [Gene]
- LOC129994486:ATAC-STARR-seq lymphoblastoid active region 23008 [Gene]
- LOC129994488:ATAC-STARR-seq lymphoblastoid active region 23009 [Gene]
- LOC129994489:ATAC-STARR-seq lymphoblastoid active region 23010 [Gene]
- LOC129994490:ATAC-STARR-seq lymphoblastoid active region 23011 [Gene]
- LOC129994491:ATAC-STARR-seq lymphoblastoid active region 23012 [Gene]
- LOC129994492:ATAC-STARR-seq lymphoblastoid active region 23013 [Gene]
- LOC129994493:ATAC-STARR-seq lymphoblastoid active region 23014 [Gene]
- LOC129994494:ATAC-STARR-seq lymphoblastoid active region 23015 [Gene]
- LOC129994496:ATAC-STARR-seq lymphoblastoid active region 23018 [Gene]
- LOC129994497:ATAC-STARR-seq lymphoblastoid active region 23019 [Gene]
- LOC129994498:ATAC-STARR-seq lymphoblastoid active region 23020 [Gene]
- LOC129994499:ATAC-STARR-seq lymphoblastoid active region 23021 [Gene]
- LOC129994500:ATAC-STARR-seq lymphoblastoid active region 23022 [Gene]
- LOC129994503:ATAC-STARR-seq lymphoblastoid active region 23023 [Gene]
- LOC129994504:ATAC-STARR-seq lymphoblastoid active region 23024 [Gene]
- LOC129994505:ATAC-STARR-seq lymphoblastoid active region 23025 [Gene]
- LOC129994509:ATAC-STARR-seq lymphoblastoid active region 23026 [Gene]
- LOC129994510:ATAC-STARR-seq lymphoblastoid active region 23027 [Gene]
- LOC129994511:ATAC-STARR-seq lymphoblastoid active region 23028 [Gene]
- LOC129994512:ATAC-STARR-seq lymphoblastoid active region 23029 [Gene]
- LOC129994513:ATAC-STARR-seq lymphoblastoid active region 23030 [Gene]
- LOC129994514:ATAC-STARR-seq lymphoblastoid active region 23031 [Gene]
- LOC129994515:ATAC-STARR-seq lymphoblastoid active region 23032 [Gene]
- LOC129994520:ATAC-STARR-seq lymphoblastoid active region 23033 [Gene]
- LOC129994522:ATAC-STARR-seq lymphoblastoid active region 23034 [Gene]
- LOC129994524:ATAC-STARR-seq lymphoblastoid active region 23035 [Gene]
- LOC129994525:ATAC-STARR-seq lymphoblastoid active region 23036 [Gene]
- LOC129994527:ATAC-STARR-seq lymphoblastoid active region 23037 [Gene]
- LOC129994528:ATAC-STARR-seq lymphoblastoid active region 23038 [Gene]
- LOC129994534:ATAC-STARR-seq lymphoblastoid active region 23040 [Gene]
- LOC129994535:ATAC-STARR-seq lymphoblastoid active region 23041 [Gene]
- LOC129994537:ATAC-STARR-seq lymphoblastoid active region 23042 [Gene]
- LOC129994538:ATAC-STARR-seq lymphoblastoid active region 23043 [Gene]
- LOC129994539:ATAC-STARR-seq lymphoblastoid active region 23044 [Gene]
- LOC129994540:ATAC-STARR-seq lymphoblastoid active region 23045 [Gene]
- LOC129994544:ATAC-STARR-seq lymphoblastoid active region 23046 [Gene]
- LOC129994545:ATAC-STARR-seq lymphoblastoid active region 23047 [Gene]
- LOC129994212:ATAC-STARR-seq lymphoblastoid silent region 16175 [Gene]
- LOC129994214:ATAC-STARR-seq lymphoblastoid silent region 16176 [Gene]
- LOC129994215:ATAC-STARR-seq lymphoblastoid silent region 16177 [Gene]
- LOC129994216:ATAC-STARR-seq lymphoblastoid silent region 16179 [Gene]
- LOC129994224:ATAC-STARR-seq lymphoblastoid silent region 16180 [Gene]
- LOC129994225:ATAC-STARR-seq lymphoblastoid silent region 16181 [Gene]
- LOC129994226:ATAC-STARR-seq lymphoblastoid silent region 16182 [Gene]
- LOC129994227:ATAC-STARR-seq lymphoblastoid silent region 16183 [Gene]
- LOC129994231:ATAC-STARR-seq lymphoblastoid silent region 16186 [Gene]
- LOC129994232:ATAC-STARR-seq lymphoblastoid silent region 16187 [Gene]
- LOC129994246:ATAC-STARR-seq lymphoblastoid silent region 16188 [Gene]
- LOC129994247:ATAC-STARR-seq lymphoblastoid silent region 16189 [Gene]
- LOC129994250:ATAC-STARR-seq lymphoblastoid silent region 16193 [Gene]
- LOC129994251:ATAC-STARR-seq lymphoblastoid silent region 16194 [Gene]
- LOC129994254:ATAC-STARR-seq lymphoblastoid silent region 16196 [Gene]
- LOC129994264:ATAC-STARR-seq lymphoblastoid silent region 16197 [Gene]
- LOC129994266:ATAC-STARR-seq lymphoblastoid silent region 16198 [Gene]
- LOC129994268:ATAC-STARR-seq lymphoblastoid silent region 16199 [Gene]
- LOC129994269:ATAC-STARR-seq lymphoblastoid silent region 16200 [Gene]
- LOC129994270:ATAC-STARR-seq lymphoblastoid silent region 16201 [Gene]
- LOC129994273:ATAC-STARR-seq lymphoblastoid silent region 16202 [Gene]
- LOC129994280:ATAC-STARR-seq lymphoblastoid silent region 16204 [Gene]
- LOC129994287:ATAC-STARR-seq lymphoblastoid silent region 16206 [Gene]
- LOC129994298:ATAC-STARR-seq lymphoblastoid silent region 16207 [Gene]
- LOC129994299:ATAC-STARR-seq lymphoblastoid silent region 16208 [Gene]
- LOC129994301:ATAC-STARR-seq lymphoblastoid silent region 16209 [Gene]
- LOC129994305:ATAC-STARR-seq lymphoblastoid silent region 16210 [Gene]
- LOC129994306:ATAC-STARR-seq lymphoblastoid silent region 16211 [Gene]
- LOC129994311:ATAC-STARR-seq lymphoblastoid silent region 16212 [Gene]
- LOC129994314:ATAC-STARR-seq lymphoblastoid silent region 16213 [Gene]
- LOC129994316:ATAC-STARR-seq lymphoblastoid silent region 16214 [Gene]
- LOC129994318:ATAC-STARR-seq lymphoblastoid silent region 16215 [Gene]
- LOC129994319:ATAC-STARR-seq lymphoblastoid silent region 16216 [Gene]
- LOC129994320:ATAC-STARR-seq lymphoblastoid silent region 16217 [Gene]
- LOC129994325:ATAC-STARR-seq lymphoblastoid silent region 16218 [Gene]
- LOC129994326:ATAC-STARR-seq lymphoblastoid silent region 16219 [Gene]
- LOC129994327:ATAC-STARR-seq lymphoblastoid silent region 16220 [Gene]
- LOC129994329:ATAC-STARR-seq lymphoblastoid silent region 16221 [Gene]
- LOC129994330:ATAC-STARR-seq lymphoblastoid silent region 16222 [Gene]
- LOC129994331:ATAC-STARR-seq lymphoblastoid silent region 16223 [Gene]
- LOC129994335:ATAC-STARR-seq lymphoblastoid silent region 16224 [Gene]
- LOC129994338:ATAC-STARR-seq lymphoblastoid silent region 16225 [Gene]
- LOC129994339:ATAC-STARR-seq lymphoblastoid silent region 16226 [Gene]
- LOC129994340:ATAC-STARR-seq lymphoblastoid silent region 16227 [Gene]
- LOC129994341:ATAC-STARR-seq lymphoblastoid silent region 16228 [Gene]
- LOC129994349:ATAC-STARR-seq lymphoblastoid silent region 16229 [Gene]
- LOC129994351:ATAC-STARR-seq lymphoblastoid silent region 16230 [Gene]
- LOC129994352:ATAC-STARR-seq lymphoblastoid silent region 16231 [Gene]
- LOC129994353:ATAC-STARR-seq lymphoblastoid silent region 16232 [Gene]
- LOC129994362:ATAC-STARR-seq lymphoblastoid silent region 16233 [Gene]
- LOC129994366:ATAC-STARR-seq lymphoblastoid silent region 16234 [Gene]
- LOC129994367:ATAC-STARR-seq lymphoblastoid silent region 16235 [Gene]
- LOC129994369:ATAC-STARR-seq lymphoblastoid silent region 16236 [Gene]
- LOC129994370:ATAC-STARR-seq lymphoblastoid silent region 16237 [Gene]
- LOC129994372:ATAC-STARR-seq lymphoblastoid silent region 16238 [Gene]
- LOC129994373:ATAC-STARR-seq lymphoblastoid silent region 16239 [Gene]
- LOC129994374:ATAC-STARR-seq lymphoblastoid silent region 16240 [Gene]
- LOC129994376:ATAC-STARR-seq lymphoblastoid silent region 16241 [Gene]
- LOC129994380:ATAC-STARR-seq lymphoblastoid silent region 16242 [Gene]
- LOC129994382:ATAC-STARR-seq lymphoblastoid silent region 16243 [Gene]
- LOC129994383:ATAC-STARR-seq lymphoblastoid silent region 16244 [Gene]
- LOC129994386:ATAC-STARR-seq lymphoblastoid silent region 16245 [Gene]
- LOC129994387:ATAC-STARR-seq lymphoblastoid silent region 16246 [Gene]
- LOC129994389:ATAC-STARR-seq lymphoblastoid silent region 16247 [Gene]
- LOC129994392:ATAC-STARR-seq lymphoblastoid silent region 16248 [Gene]
- LOC129994400:ATAC-STARR-seq lymphoblastoid silent region 16252 [Gene]
- LOC129994401:ATAC-STARR-seq lymphoblastoid silent region 16254 [Gene]
- LOC129994403:ATAC-STARR-seq lymphoblastoid silent region 16255 [Gene]
- LOC129994404:ATAC-STARR-seq lymphoblastoid silent region 16256 [Gene]
- LOC129994411:ATAC-STARR-seq lymphoblastoid silent region 16257 [Gene]
- LOC129994413:ATAC-STARR-seq lymphoblastoid silent region 16258 [Gene]
- LOC129994414:ATAC-STARR-seq lymphoblastoid silent region 16259 [Gene]
- LOC129994424:ATAC-STARR-seq lymphoblastoid silent region 16260 [Gene]
- LOC129994427:ATAC-STARR-seq lymphoblastoid silent region 16261 [Gene]
- LOC129994428:ATAC-STARR-seq lymphoblastoid silent region 16262 [Gene]
- LOC129994430:ATAC-STARR-seq lymphoblastoid silent region 16263 [Gene]
- LOC129994433:ATAC-STARR-seq lymphoblastoid silent region 16264 [Gene]
- LOC129994450:ATAC-STARR-seq lymphoblastoid silent region 16265 [Gene]
- LOC129994464:ATAC-STARR-seq lymphoblastoid silent region 16267 [Gene]
- LOC129994465:ATAC-STARR-seq lymphoblastoid silent region 16268 [Gene]
- LOC129994469:ATAC-STARR-seq lymphoblastoid silent region 16269 [Gene]
- LOC129994474:ATAC-STARR-seq lymphoblastoid silent region 16270 [Gene]
- LOC129994475:ATAC-STARR-seq lymphoblastoid silent region 16271 [Gene]
- LOC129994477:ATAC-STARR-seq lymphoblastoid silent region 16272 [Gene]
- LOC129994478:ATAC-STARR-seq lymphoblastoid silent region 16274 [Gene]
- LOC129994481:ATAC-STARR-seq lymphoblastoid silent region 16275 [Gene]
- LOC129994482:ATAC-STARR-seq lymphoblastoid silent region 16276 [Gene]
- LOC129994487:ATAC-STARR-seq lymphoblastoid silent region 16277 [Gene]
- LOC129994495:ATAC-STARR-seq lymphoblastoid silent region 16279 [Gene]
- LOC129994501:ATAC-STARR-seq lymphoblastoid silent region 16280 [Gene]
- LOC129994502:ATAC-STARR-seq lymphoblastoid silent region 16281 [Gene]
- LOC129994506:ATAC-STARR-seq lymphoblastoid silent region 16284 [Gene]
- LOC129994507:ATAC-STARR-seq lymphoblastoid silent region 16287 [Gene]
- LOC129994508:ATAC-STARR-seq lymphoblastoid silent region 16288 [Gene]
- LOC129994516:ATAC-STARR-seq lymphoblastoid silent region 16289 [Gene]
- LOC129994517:ATAC-STARR-seq lymphoblastoid silent region 16290 [Gene]
- LOC129994518:ATAC-STARR-seq lymphoblastoid silent region 16291 [Gene]
- LOC129994519:ATAC-STARR-seq lymphoblastoid silent region 16292 [Gene]
- LOC129994521:ATAC-STARR-seq lymphoblastoid silent region 16293 [Gene]
- LOC129994523:ATAC-STARR-seq lymphoblastoid silent region 16294 [Gene]
- LOC129994526:ATAC-STARR-seq lymphoblastoid silent region 16295 [Gene]
- LOC129994529:ATAC-STARR-seq lymphoblastoid silent region 16296 [Gene]
- LOC129994530:ATAC-STARR-seq lymphoblastoid silent region 16297 [Gene]
- LOC129994531:ATAC-STARR-seq lymphoblastoid silent region 16298 [Gene]
- LOC129994532:ATAC-STARR-seq lymphoblastoid silent region 16299 [Gene]
- LOC129994533:ATAC-STARR-seq lymphoblastoid silent region 16302 [Gene]
- LOC129994536:ATAC-STARR-seq lymphoblastoid silent region 16303 [Gene]
- LOC129994541:ATAC-STARR-seq lymphoblastoid silent region 16304 [Gene]
- LOC129994542:ATAC-STARR-seq lymphoblastoid silent region 16305 [Gene]
- LOC129994543:ATAC-STARR-seq lymphoblastoid silent region 16306 [Gene]
- LOC126807467:BRD4-independent group 4 enhancer GRCh37_chr5:101517472-101518671 [Gene]
- LOC126807470:BRD4-independent group 4 enhancer GRCh37_chr5:103707754-103708953 [Gene]
- LOC126807475:BRD4-independent group 4 enhancer GRCh37_chr5:111333199-111334398 [Gene]
- LOC126807476:BRD4-independent group 4 enhancer GRCh37_chr5:111496090-111497289 [Gene]
- LOC126807482:BRD4-independent group 4 enhancer GRCh37_chr5:114404076-114405275 [Gene]
- LOC126807487:BRD4-independent group 4 enhancer GRCh37_chr5:116277759-116278958 [Gene]
- LOC126807490:BRD4-independent group 4 enhancer GRCh37_chr5:120609330-120610529 [Gene]
- LOC126807492:BRD4-independent group 4 enhancer GRCh37_chr5:121464631-121465830 [Gene]
- LOC126807496:BRD4-independent group 4 enhancer GRCh37_chr5:125573255-125574454 [Gene]
- LOC126807500:BRD4-independent group 4 enhancer GRCh37_chr5:127087897-127089096 [Gene]
- LOC126807501:BRD4-independent group 4 enhancer GRCh37_chr5:127680731-127681930 [Gene]
- LOC126807502:BRD4-independent group 4 enhancer GRCh37_chr5:127772173-127773372 [Gene]
- LOC126807453:BRD4-independent group 4 enhancer GRCh37_chr5:93800512-93801711 [Gene]
- LOC126807454:BRD4-independent group 4 enhancer GRCh37_chr5:94128945-94130144 [Gene]
- LOC126807461:BRD4-independent group 4 enhancer GRCh37_chr5:97321439-97322638 [Gene]
- CDC42SE2:CDC42 small effector 2 [Gene - OMIM - HGNC]
- LOC126807468:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:102363594-102364793 [Gene]
- LOC126807471:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:106620899-106622098 [Gene]
- LOC126807473:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:107060476-107061675 [Gene]
- LOC126807478:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:112417522-112418721 [Gene]
- LOC126807485:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:115823690-115824889 [Gene]
- LOC126807491:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:121434535-121435734 [Gene]
- LOC126807494:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:122364057-122365256 [Gene]
- LOC126807497:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:125695125-125696324 [Gene]
- LOC126807504:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:129865421-129866620 [Gene]
- LOC126807456:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:95197672-95198871 [Gene]
- LOC126807458:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:96116076-96117275 [Gene]
- LOC126807459:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:96459480-96460679 [Gene]
- LOC126807463:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:97803996-97805195 [Gene]
- CHD1-DT:CHD1 divergent transcript [Gene - HGNC]
- COMMD10:COMM domain containing 10 [Gene - OMIM - HGNC]
- DMXL1-DT:DMXL1 divergent transcript [Gene - HGNC]
- DTWD2:DTW domain containing 2 [Gene - HGNC]
- DMXL1:Dmx like 1 [Gene - OMIM - HGNC]
- EPB41L4A-AS1:EPB41L4A antisense RNA 1 [Gene - HGNC]
- EPB41L4A-DT:EPB41L4A divergent transcript [Gene - HGNC]
- FBXL17:F-box and leucine rich repeat protein 17 [Gene - OMIM - HGNC]
- FAM174A-DT:FAM174A divergent transcript [Gene - HGNC]
- FER:FER tyrosine kinase [Gene - OMIM - HGNC]
- GPR150:G protein-coupled receptor 150 [Gene - HGNC]
- GRAMD2B:GRAM domain containing 2B [Gene - OMIM - HGNC]
- KIAA0825:KIAA0825 [Gene - OMIM - HGNC]
- LIX1-AS1:LIX1 and RIOK2 antisense RNA 1 [Gene - HGNC]
- LMNB1-DT:LMNB1 divergent transcript [Gene - HGNC]
- LYRM7:LYR motif containing 7 [Gene - OMIM - HGNC]
- MAN2A1-DT:MAN2A1 divergent transcript [Gene - HGNC]
- MCC:MCC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
- MCTP1-AS1:MCTP1 antisense RNA 1 [Gene - HGNC]
- LOC126807466:MED14-independent group 3 enhancer GRCh37_chr5:100112471-100113670 [Gene]
- LOC126807469:MED14-independent group 3 enhancer GRCh37_chr5:103652082-103653281 [Gene]
- LOC126807472:MED14-independent group 3 enhancer GRCh37_chr5:106946073-106947272 [Gene]
- LOC126807474:MED14-independent group 3 enhancer GRCh37_chr5:110865742-110866941 [Gene]
- LOC126807480:MED14-independent group 3 enhancer GRCh37_chr5:113010540-113011739 [Gene]
- LOC126807481:MED14-independent group 3 enhancer GRCh37_chr5:114368052-114369251 [Gene]
- LOC126807486:MED14-independent group 3 enhancer GRCh37_chr5:115853599-115854798 [Gene]
- LOC126807488:MED14-independent group 3 enhancer GRCh37_chr5:117814027-117815226 [Gene]
- LOC126807493:MED14-independent group 3 enhancer GRCh37_chr5:121602368-121603567 [Gene]
- LOC126807495:MED14-independent group 3 enhancer GRCh37_chr5:123592390-123593589 [Gene]
- LOC126807452:MED14-independent group 3 enhancer GRCh37_chr5:92694967-92696166 [Gene]
- LOC126807457:MED14-independent group 3 enhancer GRCh37_chr5:95992448-95993647 [Gene]
- LOC126807462:MED14-independent group 3 enhancer GRCh37_chr5:97386261-97387460 [Gene]
- LOC126807464:MED14-independent group 3 enhancer GRCh37_chr5:98114818-98116017 [Gene]
- LOC129389322:MPRA-validated peak5355 silencer [Gene]
- LOC129389323:MPRA-validated peak5358 silencer [Gene]
- LOC129389324:MPRA-validated peak5360 silencer [Gene]
- LOC129389325:MPRA-validated peak5361 silencer [Gene]
- LOC129389326:MPRA-validated peak5362 silencer [Gene]
- LOC129389327:MPRA-validated peak5367 silencer [Gene]
- LOC129389328:MPRA-validated peak5368 silencer [Gene]
- LOC129389329:MPRA-validated peak5369 silencer [Gene]
- LOC129389330:MPRA-validated peak5372 silencer [Gene]
- LOC129389331:MPRA-validated peak5373 silencer [Gene]
- LOC129389332:MPRA-validated peak5379 silencer [Gene]
- LOC129389333:MPRA-validated peak5381 silencer [Gene]
- LOC129389334:MPRA-validated peak5386 silencer [Gene]
- LOC129389335:MPRA-validated peak5387 silencer [Gene]
- LOC129389336:MPRA-validated peak5393 silencer [Gene]
- LOC129389337:MPRA-validated peak5394 silencer [Gene]
- LOC129389338:MPRA-validated peak5404 silencer [Gene]
- LOC129389339:MPRA-validated peak5405 silencer [Gene]
- LOC129389340:MPRA-validated peak5407 silencer [Gene]
- LOC129389341:MPRA-validated peak5410 silencer [Gene]
- LOC129389342:MPRA-validated peak5411 silencer [Gene]
- LOC129389343:MPRA-validated peak5412 silencer [Gene]
- LOC129389344:MPRA-validated peak5419 silencer [Gene]
- LOC129389345:MPRA-validated peak5421 silencer [Gene]
- LOC129389346:MPRA-validated peak5422 silencer [Gene]
- LOC129389347:MPRA-validated peak5423 silencer [Gene]
- LOC129389348:MPRA-validated peak5426 silencer [Gene]
- LOC129389349:MPRA-validated peak5429 silencer [Gene]
- LOC129389350:MPRA-validated peak5430 silencer [Gene]
- LOC129389351:MPRA-validated peak5434 silencer [Gene]
- LOC129389352:MPRA-validated peak5441 silencer [Gene]
- LOC129389353:MPRA-validated peak5446 silencer [Gene]
- LOC129389354:MPRA-validated peak5448 silencer [Gene]
- LOC129389355:MPRA-validated peak5451 silencer [Gene]
- LOC129389356:MPRA-validated peak5452 silencer [Gene]
- LOC129389357:MPRA-validated peak5453 silencer [Gene]
- LOC129389358:MPRA-validated peak5455 silencer [Gene]
- LOC129389359:MPRA-validated peak5456 silencer [Gene]
- LOC129389360:MPRA-validated peak5458 silencer [Gene]
- LOC129389361:MPRA-validated peak5459 silencer [Gene]
- NR2F1-AS1:NR2F1 antisense RNA 1 [Gene - HGNC]
- NREP-AS1:NREP antisense RNA 1 [Gene - HGNC]
- LOC132089159:Neanderthal introgressed variant-containing enhancer experimental_80648 [Gene]
- LOC132089160:Neanderthal introgressed variant-containing enhancer experimental_80715 [Gene]
- LOC132089162:Neanderthal introgressed variant-containing enhancer experimental_80810 [Gene]
- LOC132090732:Neanderthal introgressed variant-containing enhancer experimental_80867 [Gene]
- LOC132089163:Neanderthal introgressed variant-containing enhancer experimental_80935 [Gene]
- LOC112997557:OCT4-NANOG hESC enhancers GRCh37_chr5:129502144-129502824 and GRCh37_chr5:129502825-129503503 [Gene]
- LOC126807477:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:112226954-112228153 [Gene]
- LOC126807479:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:112502443-112503642 [Gene]
- LOC126807483:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:114795999-114797198 [Gene]
- LOC126807484:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:115265650-115266849 [Gene]
- LOC126807489:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:118134858-118136057 [Gene]
- LOC126807498:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:125780518-125781717 [Gene]
- LOC126807499:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:126590405-126591604 [Gene]
- LOC126807503:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:129541966-129543165 [Gene]
- LOC126807451:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:92413889-92415088 [Gene]
- LOC126807455:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:94926949-94928148 [Gene]
- LOC126807460:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:96724001-96725200 [Gene]
- LOC126807465:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:98240158-98241357 [Gene]
- POU5F2:POU domain class 5, transcription factor 2 [Gene - HGNC]
- PRDM6:PR/SET domain 6 [Gene - OMIM - HGNC]
- PRDM6-AS1:PRDM6 antisense RNA 1 [Gene - HGNC]
- RGMB-AS1:RGMB antisense RNA 1 [Gene - HGNC]
- RIOK2:RIO kinase 2 [Gene - OMIM - HGNC]
- RHOBTB3:Rho related BTB domain containing 3 [Gene - OMIM - HGNC]
- RFESD:Rieske Fe-S domain containing [Gene - HGNC]
- SEMA6A-AS1:SEMA6A antisense RNA 1 [Gene - HGNC]
- SEMA6A-AS2:SEMA6A antisense RNA 2 [Gene - HGNC]
- SKIC3:SKI3 subunit of superkiller complex [Gene - OMIM - HGNC]
- SLC12A2-DT:SLC12A2 divergent transcript [Gene - HGNC]
- SLF1:SMC5-SMC6 complex localization factor 1 [Gene - OMIM - HGNC]
- ST8SIA4:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 [Gene - OMIM - HGNC]
- STARD4-AS1:STARD4 antisense RNA 1 [Gene - HGNC]
- LOC123497959:Sharpr-MPRA regulatory region 10011 [Gene]
- LOC112997555:Sharpr-MPRA regulatory region 10286 [Gene]
- LOC113002596:Sharpr-MPRA regulatory region 10583 [Gene]
- LOC114004395:Sharpr-MPRA regulatory region 11450 [Gene]
- LOC123497936:Sharpr-MPRA regulatory region 1264 [Gene]
- LOC123497962:Sharpr-MPRA regulatory region 12893 [Gene]
- LOC121725214:Sharpr-MPRA regulatory region 12983 [Gene]
- LOC123497961:Sharpr-MPRA regulatory region 13182 [Gene]
- LOC123497950:Sharpr-MPRA regulatory region 13215 [Gene]
- LOC121079954:Sharpr-MPRA regulatory region 13332 [Gene]
- LOC121079957:Sharpr-MPRA regulatory region 13961 [Gene]
- LOC123497939:Sharpr-MPRA regulatory region 13970 [Gene]
- LOC121079952:Sharpr-MPRA regulatory region 14586 [Gene]
- LOC121079956:Sharpr-MPRA regulatory region 14787 [Gene]
- LOC123497937:Sharpr-MPRA regulatory region 14810 [Gene]
- LOC123497956:Sharpr-MPRA regulatory region 14872 [Gene]
- LOC123497942:Sharpr-MPRA regulatory region 14932 [Gene]
- LOC123497960:Sharpr-MPRA regulatory region 15152 [Gene]
- LOC121725213:Sharpr-MPRA regulatory region 1653 [Gene]
- LOC121079953:Sharpr-MPRA regulatory region 1662 [Gene]
- LOC123497945:Sharpr-MPRA regulatory region 1674 [Gene]
- LOC123497951:Sharpr-MPRA regulatory region 1675 [Gene]
- LOC123497966:Sharpr-MPRA regulatory region 1831 [Gene]
- LOC123497940:Sharpr-MPRA regulatory region 2204 [Gene]
- LOC112997552:Sharpr-MPRA regulatory region 2532 [Gene]
- LOC121079951:Sharpr-MPRA regulatory region 2569 [Gene]
- LOC121079959:Sharpr-MPRA regulatory region 293 [Gene]
- LOC112997556:Sharpr-MPRA regulatory region 3880 [Gene]
- LOC123497943:Sharpr-MPRA regulatory region 4368 [Gene]
- LOC121079955:Sharpr-MPRA regulatory region 5089 [Gene]
- LOC123497947:Sharpr-MPRA regulatory region 5849 [Gene]
- LOC121725216:Sharpr-MPRA regulatory region 5951 [Gene]
- LOC123497958:Sharpr-MPRA regulatory region 6110 [Gene]
- LOC123497953:Sharpr-MPRA regulatory region 6283 [Gene]
- LOC123497965:Sharpr-MPRA regulatory region 657 [Gene]
- LOC123497949:Sharpr-MPRA regulatory region 6746 [Gene]
- LOC121725212:Sharpr-MPRA regulatory region 6875 [Gene]
- LOC112997554:Sharpr-MPRA regulatory region 6 [Gene]
- LOC123497941:Sharpr-MPRA regulatory region 7163 [Gene]
- LOC123497946:Sharpr-MPRA regulatory region 7406 [Gene]
- LOC123497954:Sharpr-MPRA regulatory region 7502 [Gene]
- LOC123497948:Sharpr-MPRA regulatory region 7585 [Gene]
- LOC123497964:Sharpr-MPRA regulatory region 7820 [Gene]
- LOC123497938:Sharpr-MPRA regulatory region 8230 [Gene]
- LOC121079958:Sharpr-MPRA regulatory region 8609 [Gene]
- LOC121725211:Sharpr-MPRA regulatory region 8638 [Gene]
- LOC123497944:Sharpr-MPRA regulatory region 9279 [Gene]
- LOC121725215:Sharpr-MPRA regulatory region 9285 [Gene]
- LOC123497955:Sharpr-MPRA regulatory region 9424 [Gene]
- LOC123497963:Sharpr-MPRA regulatory region 9682 [Gene]
- LOC112997553:Sharpr-MPRA regulatory region 9882 [Gene]
- STARD4:StAR related lipid transfer domain containing 4 [Gene - OMIM - HGNC]
- TICAM2-AS1:TICAM2 antisense RNA 1 [Gene - HGNC]
- TICAM2:TIR domain containing adaptor molecule 2 [Gene - OMIM - HGNC]
- TMED7-TICAM2:TMED7-TICAM2 readthrough [Gene - HGNC]
- TNFAIP8:TNF alpha induced protein 8 [Gene - OMIM - HGNC]
- LOC110120966:VISTA enhancer hs1024 [Gene]
- LOC110120971:VISTA enhancer hs1039 [Gene]
- LOC110120974:VISTA enhancer hs1049 [Gene]
- LOC110120977:VISTA enhancer hs1060 [Gene]
- LOC110120982:VISTA enhancer hs1079 [Gene]
- LOC110120991:VISTA enhancer hs1109 [Gene]
- LOC110121009:VISTA enhancer hs1153 [Gene]
- LOC110121012:VISTA enhancer hs1170 [Gene]
- LOC110121013:VISTA enhancer hs1172 [Gene]
- LOC110121035:VISTA enhancer hs1227 [Gene]
- LOC110121070:VISTA enhancer hs1345 [Gene]
- LOC110121082:VISTA enhancer hs1371 [Gene]
- LOC110121084:VISTA enhancer hs1375 [Gene]
- LOC110121147:VISTA enhancer hs1577 [Gene]
- LOC110121173:VISTA enhancer hs1643 [Gene]
- LOC110121176:VISTA enhancer hs1649 [Gene]
- LOC110121194:VISTA enhancer hs1734 [Gene]
- LOC110120605:VISTA enhancer hs191 [Gene]
- LOC110121303:VISTA enhancer hs2325 [Gene]
- LOC110120640:VISTA enhancer hs269 [Gene]
- LOC110120641:VISTA enhancer hs271 [Gene]
- LOC110120699:VISTA enhancer hs546 [Gene]
- LOC110120744:VISTA enhancer hs682 [Gene]
- LOC110120808:VISTA enhancer hs952 [Gene]
- LOC110120815:VISTA enhancer hs971 [Gene]
- WDR36:WD repeat domain 36 [Gene - OMIM - HGNC]
- YTHDC2:YTH N6-methyladenosine RNA binding protein C2 [Gene - OMIM - HGNC]
- ZNF474-AS1:ZNF474 antisense RNA 1 [Gene - HGNC]
- AP3S1:adaptor related protein complex 3 subunit sigma 1 [Gene - OMIM - HGNC]
- ALDH7A1:aldehyde dehydrogenase 7 family member A1 [Gene - OMIM - HGNC]
- ARSK:arylsulfatase family member K [Gene - OMIM - HGNC]
- ATG12:autophagy related 12 [Gene - OMIM - HGNC]
- CAMK4:calcium/calmodulin dependent protein kinase IV [Gene - OMIM - HGNC]
- CAST:calpastatin [Gene - OMIM - HGNC]
- CSNK1G3:casein kinase 1 gamma 3 [Gene - OMIM - HGNC]
- CEP120:centrosomal protein 120 [Gene - OMIM - HGNC]
- CHSY3:chondroitin sulfate synthase 3 [Gene - OMIM - HGNC]
- CHD1:chromodomain helicase DNA binding protein 1 [Gene - OMIM - HGNC]
- C5orf63:chromosome 5 open reading frame 63 [Gene - HGNC]
- CCDC112:coiled-coil domain containing 112 [Gene - HGNC]
- CCDC192:coiled-coil domain containing 192 [Gene - HGNC]
- CTXN3:cortexin 3 [Gene - OMIM - HGNC]
- CDO1:cysteine dioxygenase type 1 [Gene - OMIM - HGNC]
- DCP2:decapping mRNA 2 [Gene - OMIM - HGNC]
- PPIP5K2:diphosphoinositol pentakisphosphate kinase 2 [Gene - OMIM - HGNC]
- ELL2:elongation factor for RNA polymerase II 2 [Gene - OMIM - HGNC]
- ERAP1:endoplasmic reticulum aminopeptidase 1 [Gene - OMIM - HGNC]
- ERAP2:endoplasmic reticulum aminopeptidase 2 [Gene - OMIM - HGNC]
- EFNA5:ephrin A5 [Gene - OMIM - HGNC]
- EPB41L4A:erythrocyte membrane protein band 4.1 like 4A [Gene - OMIM - HGNC]
- FAM170A:family with sequence similarity 170 member A [Gene - OMIM - HGNC]
- FAM174A:family with sequence similarity 174 member A [Gene - HGNC]
- FAM81B:family with sequence similarity 81 member B [Gene - HGNC]
- FEM1C:fem-1 homolog C [Gene - OMIM - HGNC]
- FTMT:ferritin mitochondrial [Gene - OMIM - HGNC]
- FBN2:fibrillin 2 [Gene - OMIM - HGNC]
- GLRX:glutaredoxin [Gene - OMIM - HGNC]
- GIN1:gypsy retrotransposon integrase 1 [Gene - HGNC]
- HINT1:histidine triad nucleotide binding protein 1 [Gene - OMIM - HGNC]
- HSD17B4:hydroxysteroid 17-beta dehydrogenase 4 [Gene - OMIM - HGNC]
- ISOC1:isochorismatase domain containing 1 [Gene - OMIM - HGNC]
- LVRN:laeverin [Gene - OMIM - HGNC]
- LMNB1:lamin B1 [Gene - OMIM - HGNC]
- LNPEP:leucyl and cystinyl aminopeptidase [Gene - OMIM - HGNC]
- LIX1:limb and CNS expressed 1 [Gene - OMIM - HGNC]
- LINCADL:lincRNA adipogenesis and lipogenesis associated [Gene - HGNC]
- LINC01023:long intergenic non-protein coding RNA 1023 [Gene - HGNC]
- LINC01170:long intergenic non-protein coding RNA 1170 [Gene - HGNC]
- LINC01340:long intergenic non-protein coding RNA 1340 [Gene - HGNC]
- LINC01554:long intergenic non-protein coding RNA 1554 [Gene - HGNC]
- LINC01846:long intergenic non-protein coding RNA 1846 [Gene - HGNC]
- LINC01848:long intergenic non-protein coding RNA 1848 [Gene - HGNC]
- LINC01950:long intergenic non-protein coding RNA 1950 [Gene - HGNC]
- LINC01957:long intergenic non-protein coding RNA 1957 [Gene - HGNC]
- LINC02039:long intergenic non-protein coding RNA 2039 [Gene - HGNC]
- LINC02113:long intergenic non-protein coding RNA 2113 [Gene - HGNC]
- LINC02115:long intergenic non-protein coding RNA 2115 [Gene - HGNC]
- LINC02147:long intergenic non-protein coding RNA 2147 [Gene - HGNC]
- LINC02148:long intergenic non-protein coding RNA 2148 [Gene - HGNC]
- LINC02200:long intergenic non-protein coding RNA 2200 [Gene - HGNC]
- LINC02201:long intergenic non-protein coding RNA 2201 [Gene - HGNC]
- LINC02208:long intergenic non-protein coding RNA 2208 [Gene - HGNC]
- LINC02214:long intergenic non-protein coding RNA 2214 [Gene - HGNC]
- LINC02215:long intergenic non-protein coding RNA 2215 [Gene - HGNC]
- LINC02216:long intergenic non-protein coding RNA 2216 [Gene - HGNC]
- LINC02234:long intergenic non-protein coding RNA 2234 [Gene - HGNC]
- LINC02240:long intergenic non-protein coding RNA 2240 [Gene - HGNC]
- LINC00491:long intergenic non-protein coding RNA 491 [Gene - HGNC]
- LINC00492:long intergenic non-protein coding RNA 492 [Gene - HGNC]
- LINC00992:long intergenic non-protein coding RNA 992 [Gene - HGNC]
- LOX:lysyl oxidase [Gene - OMIM - HGNC]
- MACIR:macrophage immunometabolism regulator [Gene - OMIM - HGNC]
- MAN2A1:mannosidase alpha class 2A member 1 [Gene - OMIM - HGNC]
- MARCHF3:membrane associated ring-CH-type finger 3 [Gene - OMIM - HGNC]
- MINAR2:membrane integral NOTCH2 associated receptor 2 [Gene - OMIM - HGNC]
- MIR12130:microRNA 12130 [Gene - HGNC]
- MIR1244-2:microRNA 1244-2 [Gene - HGNC]
- MIR2277:microRNA 2277 [Gene - HGNC]
- MIR4460:microRNA 4460 [Gene - HGNC]
- MIR4633:microRNA 4633 [Gene - HGNC]
- MIR548F3:microRNA 548f-3 [Gene - HGNC]
- MIR548P:microRNA 548p [Gene - HGNC]
- MIR5706:microRNA 5706 [Gene - HGNC]
- MIR583:microRNA 583 [Gene - HGNC]
- MCTP1:multiple C2 and transmembrane domain containing 1 [Gene - OMIM - HGNC]
- MEGF10:multiple EGF like domains 10 [Gene - OMIM - HGNC]
- NREP:neuronal regeneration related protein [Gene - OMIM - HGNC]
- NR2F1:nuclear receptor subfamily 2 group F member 1 [Gene - OMIM - HGNC]
- NUDT12:nudix hydrolase 12 [Gene - OMIM - HGNC]
- PAM:peptidylglycine alpha-amidating monooxygenase [Gene - OMIM - HGNC]
- PPIC:peptidylprolyl isomerase C [Gene - OMIM - HGNC]
- PHAX:phosphorylated adaptor for RNA export [Gene - OMIM - HGNC]
- KCNN2:potassium calcium-activated channel subfamily N member 2 [Gene - OMIM - HGNC]
- PJA2:praja ring finger ubiquitin ligase 2 [Gene - OMIM - HGNC]
- PRR16:proline rich 16 [Gene - OMIM - HGNC]
- PRRC1:proline rich coiled-coil 1 [Gene - HGNC]
- PCSK1:proprotein convertase subtilisin/kexin type 1 [Gene - OMIM - HGNC]
- PGGT1B:protein geranylgeranyltransferase type I subunit beta [Gene - OMIM - HGNC]
- REEP5:receptor accessory protein 5 [Gene - OMIM - HGNC]
- RGMB:repulsive guidance molecule BMP co-receptor b [Gene - OMIM - HGNC]
- SEMA6A:semaphorin 6A [Gene - OMIM - HGNC]
- SRFBP1:serum response factor binding protein 1 [Gene - OMIM - HGNC]
- SRP19:signal recognition particle 19 [Gene - OMIM - HGNC]
- SNORA13:small nucleolar RNA, H/ACA box 13 [Gene - HGNC]
- SLC12A2:solute carrier family 12 member 2 [Gene - OMIM - HGNC]
- SLC25A46:solute carrier family 25 member 46 [Gene - OMIM - HGNC]
- SLC27A6:solute carrier family 27 member 6 [Gene - OMIM - HGNC]
- SLCO4C1:solute carrier organic anion transporter family member 4C1 [Gene - OMIM - HGNC]
- SLCO6A1:solute carrier organic anion transporter family member 6A1 [Gene - OMIM - HGNC]
- SNX24:sorting nexin 24 [Gene - HGNC]
- SNX2:sorting nexin 2 [Gene - OMIM - HGNC]
- SPMIP10:sperm microtubule inner protein 10 [Gene - HGNC]
- SPATA9:spermatogenesis associated 9 [Gene - OMIM - HGNC]
- SNCAIP:synuclein alpha interacting protein [Gene - OMIM - HGNC]
- TSSK1B:testis specific serine kinase 1B [Gene - OMIM - HGNC]
- TSLP:thymic stromal lymphopoietin [Gene - OMIM - HGNC]
- TMED7:transmembrane p24 trafficking protein 7 [Gene - OMIM - HGNC]
- TMEM232:transmembrane protein 232 [Gene - OMIM - HGNC]
- TRIM36:tripartite motif containing 36 [Gene - OMIM - HGNC]
- LOC100289230:uncharacterized LOC100289230 [Gene]
- LOC101927023:uncharacterized LOC101927023 [Gene]
- LOC101927078:uncharacterized LOC101927078 [Gene]
- LOC101927190:uncharacterized LOC101927190 [Gene]
- LOC101927357:uncharacterized LOC101927357 [Gene]
- LOC101927421:uncharacterized LOC101927421 [Gene]
- LOC101927488:uncharacterized LOC101927488 [Gene]
- LOC101929710:uncharacterized LOC101929710 [Gene]
- LOC102467216:uncharacterized LOC102467216 [Gene]
- LOC102467217:uncharacterized LOC102467217 [Gene]
- LOC102467226:uncharacterized LOC102467226 [Gene]
- LOC102724720:uncharacterized LOC102724720 [Gene]
- LOC105379082:uncharacterized LOC105379082 [Gene]
- LOC105379109:uncharacterized LOC105379109 [Gene]
- LOC105379157:uncharacterized LOC105379157 [Gene]
- MGC32805:uncharacterized LOC153163 [Gene]
- LOC285638:uncharacterized LOC285638 [Gene]
- ZNF474:zinc finger protein 474 [Gene - HGNC]
- ZNF475:zinc finger protein 475 [Gene - HGNC]
- ZNF608:zinc finger protein 608 [Gene - HGNC]
- Variant type:
- copy number loss
- Cytogenetic location:
- 5q14.3-31.1
- Genomic location:
- Preferred name:
- GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1
- HGVS:
- NC_000005.10:g.(?_91411708)_(131319563_?)del
- NC_000005.8:g.(?_90743281)_(130683155_?)del
- NC_000005.9:g.(?_90707525)_(130655256_?)del
This HGVS expression did not pass validation- Links:
- dbVar: nssv3395377; dbVar: nsv996190
- Observations:
- 1
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000183620 | ISCA site 1
| no assertion criteria provided | Pathogenic (Mar 18, 2014) | unknown | clinical testing |
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
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, SCV000183620.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided |
Last Updated: Sep 1, 2024