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GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 14, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000138172.5

Allele description

GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3

Genes:
  • ADORA2A-AS1:ADORA2A antisense RNA 1 [Gene - HGNC]
  • LOC129929044:ATAC-STARR-seq lymphoblastoid active region 18754 [Gene]
  • LOC129929045:ATAC-STARR-seq lymphoblastoid active region 18755 [Gene]
  • LOC130067094:ATAC-STARR-seq lymphoblastoid active region 18756 [Gene]
  • LOC130067095:ATAC-STARR-seq lymphoblastoid active region 18759 [Gene]
  • LOC130067097:ATAC-STARR-seq lymphoblastoid active region 18761 [Gene]
  • LOC130067098:ATAC-STARR-seq lymphoblastoid active region 18762 [Gene]
  • LOC130067099:ATAC-STARR-seq lymphoblastoid active region 18763 [Gene]
  • LOC130067100:ATAC-STARR-seq lymphoblastoid active region 18764 [Gene]
  • LOC130067101:ATAC-STARR-seq lymphoblastoid active region 18765 [Gene]
  • LOC130067102:ATAC-STARR-seq lymphoblastoid active region 18766 [Gene]
  • LOC130067104:ATAC-STARR-seq lymphoblastoid active region 18767 [Gene]
  • LOC130067105:ATAC-STARR-seq lymphoblastoid active region 18768 [Gene]
  • LOC130067106:ATAC-STARR-seq lymphoblastoid active region 18769 [Gene]
  • LOC130067110:ATAC-STARR-seq lymphoblastoid active region 18770 [Gene]
  • LOC130067111:ATAC-STARR-seq lymphoblastoid active region 18771 [Gene]
  • LOC130067114:ATAC-STARR-seq lymphoblastoid active region 18772 [Gene]
  • LOC130067115:ATAC-STARR-seq lymphoblastoid active region 18773 [Gene]
  • LOC130067116:ATAC-STARR-seq lymphoblastoid active region 18774 [Gene]
  • LOC130067117:ATAC-STARR-seq lymphoblastoid active region 18775 [Gene]
  • LOC130067118:ATAC-STARR-seq lymphoblastoid active region 18776 [Gene]
  • LOC130067119:ATAC-STARR-seq lymphoblastoid active region 18777 [Gene]
  • LOC130067121:ATAC-STARR-seq lymphoblastoid active region 18778 [Gene]
  • LOC130067123:ATAC-STARR-seq lymphoblastoid active region 18779 [Gene]
  • LOC130067124:ATAC-STARR-seq lymphoblastoid active region 18780 [Gene]
  • LOC130067127:ATAC-STARR-seq lymphoblastoid active region 18782 [Gene]
  • LOC130067128:ATAC-STARR-seq lymphoblastoid active region 18783 [Gene]
  • LOC130067129:ATAC-STARR-seq lymphoblastoid active region 18784 [Gene]
  • LOC130067130:ATAC-STARR-seq lymphoblastoid active region 18785 [Gene]
  • LOC130067134:ATAC-STARR-seq lymphoblastoid active region 18786 [Gene]
  • LOC130067137:ATAC-STARR-seq lymphoblastoid active region 18787 [Gene]
  • LOC130067140:ATAC-STARR-seq lymphoblastoid active region 18788 [Gene]
  • LOC130067141:ATAC-STARR-seq lymphoblastoid active region 18789 [Gene]
  • LOC130067142:ATAC-STARR-seq lymphoblastoid active region 18790 [Gene]
  • LOC130067147:ATAC-STARR-seq lymphoblastoid active region 18791 [Gene]
  • LOC130067150:ATAC-STARR-seq lymphoblastoid active region 18792 [Gene]
  • LOC130067151:ATAC-STARR-seq lymphoblastoid active region 18793 [Gene]
  • LOC130067153:ATAC-STARR-seq lymphoblastoid active region 18794 [Gene]
  • LOC130067154:ATAC-STARR-seq lymphoblastoid active region 18795 [Gene]
  • LOC130067155:ATAC-STARR-seq lymphoblastoid active region 18796 [Gene]
  • LOC130067158:ATAC-STARR-seq lymphoblastoid active region 18797 [Gene]
  • LOC130067159:ATAC-STARR-seq lymphoblastoid active region 18798 [Gene]
  • LOC130067160:ATAC-STARR-seq lymphoblastoid active region 18799 [Gene]
  • LOC130067161:ATAC-STARR-seq lymphoblastoid active region 18800 [Gene]
  • LOC130067162:ATAC-STARR-seq lymphoblastoid active region 18801 [Gene]
  • LOC130067163:ATAC-STARR-seq lymphoblastoid active region 18802 [Gene]
  • LOC130067165:ATAC-STARR-seq lymphoblastoid active region 18804 [Gene]
  • LOC130067166:ATAC-STARR-seq lymphoblastoid active region 18805 [Gene]
  • LOC130067167:ATAC-STARR-seq lymphoblastoid active region 18806 [Gene]
  • LOC130067171:ATAC-STARR-seq lymphoblastoid active region 18809 [Gene]
  • LOC130067172:ATAC-STARR-seq lymphoblastoid active region 18810 [Gene]
  • LOC130067177:ATAC-STARR-seq lymphoblastoid active region 18813 [Gene]
  • LOC130067179:ATAC-STARR-seq lymphoblastoid active region 18815 [Gene]
  • LOC130067183:ATAC-STARR-seq lymphoblastoid active region 18817 [Gene]
  • LOC130067186:ATAC-STARR-seq lymphoblastoid active region 18820 [Gene]
  • LOC130067187:ATAC-STARR-seq lymphoblastoid active region 18822 [Gene]
  • LOC130067189:ATAC-STARR-seq lymphoblastoid active region 18823 [Gene]
  • LOC130067190:ATAC-STARR-seq lymphoblastoid active region 18824 [Gene]
  • LOC130067192:ATAC-STARR-seq lymphoblastoid active region 18825 [Gene]
  • LOC130067193:ATAC-STARR-seq lymphoblastoid active region 18827 [Gene]
  • LOC130067196:ATAC-STARR-seq lymphoblastoid active region 18829 [Gene]
  • LOC130067197:ATAC-STARR-seq lymphoblastoid active region 18830 [Gene]
  • LOC130067200:ATAC-STARR-seq lymphoblastoid active region 18831 [Gene]
  • LOC130067201:ATAC-STARR-seq lymphoblastoid active region 18832 [Gene]
  • LOC130067203:ATAC-STARR-seq lymphoblastoid active region 18833 [Gene]
  • LOC130067204:ATAC-STARR-seq lymphoblastoid active region 18834 [Gene]
  • LOC130067205:ATAC-STARR-seq lymphoblastoid active region 18835 [Gene]
  • LOC130067206:ATAC-STARR-seq lymphoblastoid active region 18836 [Gene]
  • LOC130067211:ATAC-STARR-seq lymphoblastoid active region 18837 [Gene]
  • LOC130067215:ATAC-STARR-seq lymphoblastoid active region 18838 [Gene]
  • LOC130067216:ATAC-STARR-seq lymphoblastoid active region 18840 [Gene]
  • LOC130067218:ATAC-STARR-seq lymphoblastoid active region 18842 [Gene]
  • LOC130067221:ATAC-STARR-seq lymphoblastoid active region 18843 [Gene]
  • LOC130067222:ATAC-STARR-seq lymphoblastoid active region 18844 [Gene]
  • LOC130067226:ATAC-STARR-seq lymphoblastoid active region 18845 [Gene]
  • LOC130067227:ATAC-STARR-seq lymphoblastoid active region 18846 [Gene]
  • LOC130067228:ATAC-STARR-seq lymphoblastoid active region 18847 [Gene]
  • LOC130067231:ATAC-STARR-seq lymphoblastoid active region 18848 [Gene]
  • LOC130067234:ATAC-STARR-seq lymphoblastoid active region 18849 [Gene]
  • LOC130067236:ATAC-STARR-seq lymphoblastoid active region 18850 [Gene]
  • LOC130067237:ATAC-STARR-seq lymphoblastoid active region 18851 [Gene]
  • LOC130067238:ATAC-STARR-seq lymphoblastoid active region 18852 [Gene]
  • LOC130067239:ATAC-STARR-seq lymphoblastoid active region 18853 [Gene]
  • LOC130067242:ATAC-STARR-seq lymphoblastoid active region 18854 [Gene]
  • LOC130067243:ATAC-STARR-seq lymphoblastoid active region 18855 [Gene]
  • LOC130067244:ATAC-STARR-seq lymphoblastoid active region 18856 [Gene]
  • LOC130067250:ATAC-STARR-seq lymphoblastoid active region 18858 [Gene]
  • LOC130067251:ATAC-STARR-seq lymphoblastoid active region 18859 [Gene]
  • LOC130067253:ATAC-STARR-seq lymphoblastoid active region 18860 [Gene]
  • LOC130067255:ATAC-STARR-seq lymphoblastoid active region 18861 [Gene]
  • LOC130067256:ATAC-STARR-seq lymphoblastoid active region 18862 [Gene]
  • LOC130067257:ATAC-STARR-seq lymphoblastoid active region 18863 [Gene]
  • LOC130067258:ATAC-STARR-seq lymphoblastoid active region 18864 [Gene]
  • LOC130067260:ATAC-STARR-seq lymphoblastoid active region 18865 [Gene]
  • LOC130067262:ATAC-STARR-seq lymphoblastoid active region 18872 [Gene]
  • LOC130067264:ATAC-STARR-seq lymphoblastoid active region 18873 [Gene]
  • LOC130067265:ATAC-STARR-seq lymphoblastoid active region 18874 [Gene]
  • LOC130067266:ATAC-STARR-seq lymphoblastoid active region 18875 [Gene]
  • LOC130067267:ATAC-STARR-seq lymphoblastoid active region 18876 [Gene]
  • LOC130067268:ATAC-STARR-seq lymphoblastoid active region 18877 [Gene]
  • LOC130067269:ATAC-STARR-seq lymphoblastoid active region 18878 [Gene]
  • LOC130067270:ATAC-STARR-seq lymphoblastoid active region 18879 [Gene]
  • LOC130067271:ATAC-STARR-seq lymphoblastoid active region 18880 [Gene]
  • LOC130067272:ATAC-STARR-seq lymphoblastoid active region 18881 [Gene]
  • LOC130067273:ATAC-STARR-seq lymphoblastoid active region 18882 [Gene]
  • LOC130067274:ATAC-STARR-seq lymphoblastoid active region 18883 [Gene]
  • LOC130067275:ATAC-STARR-seq lymphoblastoid active region 18884 [Gene]
  • LOC130067276:ATAC-STARR-seq lymphoblastoid active region 18885 [Gene]
  • LOC130067279:ATAC-STARR-seq lymphoblastoid active region 18886 [Gene]
  • LOC130067283:ATAC-STARR-seq lymphoblastoid active region 18888 [Gene]
  • LOC130067285:ATAC-STARR-seq lymphoblastoid active region 18889 [Gene]
  • LOC130067286:ATAC-STARR-seq lymphoblastoid active region 18890 [Gene]
  • LOC130067287:ATAC-STARR-seq lymphoblastoid active region 18891 [Gene]
  • LOC130067288:ATAC-STARR-seq lymphoblastoid active region 18892 [Gene]
  • LOC130067289:ATAC-STARR-seq lymphoblastoid active region 18893 [Gene]
  • LOC130067290:ATAC-STARR-seq lymphoblastoid active region 18894 [Gene]
  • LOC130067291:ATAC-STARR-seq lymphoblastoid active region 18895 [Gene]
  • LOC130067293:ATAC-STARR-seq lymphoblastoid active region 18897 [Gene]
  • LOC130067295:ATAC-STARR-seq lymphoblastoid active region 18898 [Gene]
  • LOC130067296:ATAC-STARR-seq lymphoblastoid active region 18899 [Gene]
  • LOC130067300:ATAC-STARR-seq lymphoblastoid active region 18904 [Gene]
  • LOC130067301:ATAC-STARR-seq lymphoblastoid active region 18905 [Gene]
  • LOC130067302:ATAC-STARR-seq lymphoblastoid active region 18906 [Gene]
  • LOC130067303:ATAC-STARR-seq lymphoblastoid active region 18907 [Gene]
  • LOC130067304:ATAC-STARR-seq lymphoblastoid active region 18908 [Gene]
  • LOC130067305:ATAC-STARR-seq lymphoblastoid active region 18909 [Gene]
  • LOC130067306:ATAC-STARR-seq lymphoblastoid active region 18910 [Gene]
  • LOC130067308:ATAC-STARR-seq lymphoblastoid active region 18911 [Gene]
  • LOC130067309:ATAC-STARR-seq lymphoblastoid active region 18912 [Gene]
  • LOC130067310:ATAC-STARR-seq lymphoblastoid active region 18913 [Gene]
  • LOC130067311:ATAC-STARR-seq lymphoblastoid active region 18914 [Gene]
  • LOC130067313:ATAC-STARR-seq lymphoblastoid active region 18916 [Gene]
  • LOC130067314:ATAC-STARR-seq lymphoblastoid active region 18917 [Gene]
  • LOC130067315:ATAC-STARR-seq lymphoblastoid active region 18918 [Gene]
  • LOC130067316:ATAC-STARR-seq lymphoblastoid active region 18919 [Gene]
  • LOC129869694:ATAC-STARR-seq lymphoblastoid silent region 13538 [Gene]
  • LOC130067093:ATAC-STARR-seq lymphoblastoid silent region 13540 [Gene]
  • LOC130067096:ATAC-STARR-seq lymphoblastoid silent region 13543 [Gene]
  • LOC130067103:ATAC-STARR-seq lymphoblastoid silent region 13547 [Gene]
  • LOC130067107:ATAC-STARR-seq lymphoblastoid silent region 13548 [Gene]
  • LOC130067108:ATAC-STARR-seq lymphoblastoid silent region 13549 [Gene]
  • LOC130067109:ATAC-STARR-seq lymphoblastoid silent region 13550 [Gene]
  • LOC130067112:ATAC-STARR-seq lymphoblastoid silent region 13551 [Gene]
  • LOC130067113:ATAC-STARR-seq lymphoblastoid silent region 13552 [Gene]
  • LOC130067120:ATAC-STARR-seq lymphoblastoid silent region 13553 [Gene]
  • LOC130067122:ATAC-STARR-seq lymphoblastoid silent region 13554 [Gene]
  • LOC130067125:ATAC-STARR-seq lymphoblastoid silent region 13556 [Gene]
  • LOC130067126:ATAC-STARR-seq lymphoblastoid silent region 13557 [Gene]
  • LOC130067131:ATAC-STARR-seq lymphoblastoid silent region 13558 [Gene]
  • LOC130067132:ATAC-STARR-seq lymphoblastoid silent region 13559 [Gene]
  • LOC130067133:ATAC-STARR-seq lymphoblastoid silent region 13560 [Gene]
  • LOC130067135:ATAC-STARR-seq lymphoblastoid silent region 13561 [Gene]
  • LOC130067136:ATAC-STARR-seq lymphoblastoid silent region 13562 [Gene]
  • LOC130067138:ATAC-STARR-seq lymphoblastoid silent region 13563 [Gene]
  • LOC130067139:ATAC-STARR-seq lymphoblastoid silent region 13564 [Gene]
  • LOC130067143:ATAC-STARR-seq lymphoblastoid silent region 13565 [Gene]
  • LOC130067144:ATAC-STARR-seq lymphoblastoid silent region 13566 [Gene]
  • LOC130067145:ATAC-STARR-seq lymphoblastoid silent region 13567 [Gene]
  • LOC130067146:ATAC-STARR-seq lymphoblastoid silent region 13568 [Gene]
  • LOC130067148:ATAC-STARR-seq lymphoblastoid silent region 13569 [Gene]
  • LOC130067149:ATAC-STARR-seq lymphoblastoid silent region 13570 [Gene]
  • LOC130067152:ATAC-STARR-seq lymphoblastoid silent region 13573 [Gene]
  • LOC130067156:ATAC-STARR-seq lymphoblastoid silent region 13574 [Gene]
  • LOC130067157:ATAC-STARR-seq lymphoblastoid silent region 13576 [Gene]
  • LOC130067164:ATAC-STARR-seq lymphoblastoid silent region 13579 [Gene]
  • LOC130067168:ATAC-STARR-seq lymphoblastoid silent region 13581 [Gene]
  • LOC130067169:ATAC-STARR-seq lymphoblastoid silent region 13582 [Gene]
  • LOC130067170:ATAC-STARR-seq lymphoblastoid silent region 13583 [Gene]
  • LOC130067173:ATAC-STARR-seq lymphoblastoid silent region 13584 [Gene]
  • LOC130067174:ATAC-STARR-seq lymphoblastoid silent region 13585 [Gene]
  • LOC130067175:ATAC-STARR-seq lymphoblastoid silent region 13586 [Gene]
  • LOC130067176:ATAC-STARR-seq lymphoblastoid silent region 13587 [Gene]
  • LOC130067178:ATAC-STARR-seq lymphoblastoid silent region 13591 [Gene]
  • LOC130067180:ATAC-STARR-seq lymphoblastoid silent region 13592 [Gene]
  • LOC130067181:ATAC-STARR-seq lymphoblastoid silent region 13593 [Gene]
  • LOC130067182:ATAC-STARR-seq lymphoblastoid silent region 13594 [Gene]
  • LOC130067184:ATAC-STARR-seq lymphoblastoid silent region 13595 [Gene]
  • LOC130067185:ATAC-STARR-seq lymphoblastoid silent region 13596 [Gene]
  • LOC130067188:ATAC-STARR-seq lymphoblastoid silent region 13597 [Gene]
  • LOC130067191:ATAC-STARR-seq lymphoblastoid silent region 13600 [Gene]
  • LOC130067194:ATAC-STARR-seq lymphoblastoid silent region 13602 [Gene]
  • LOC130067195:ATAC-STARR-seq lymphoblastoid silent region 13603 [Gene]
  • LOC130067198:ATAC-STARR-seq lymphoblastoid silent region 13604 [Gene]
  • LOC130067199:ATAC-STARR-seq lymphoblastoid silent region 13605 [Gene]
  • LOC130067202:ATAC-STARR-seq lymphoblastoid silent region 13606 [Gene]
  • LOC130067207:ATAC-STARR-seq lymphoblastoid silent region 13607 [Gene]
  • LOC130067208:ATAC-STARR-seq lymphoblastoid silent region 13608 [Gene]
  • LOC130067209:ATAC-STARR-seq lymphoblastoid silent region 13609 [Gene]
  • LOC130067210:ATAC-STARR-seq lymphoblastoid silent region 13610 [Gene]
  • LOC130067212:ATAC-STARR-seq lymphoblastoid silent region 13611 [Gene]
  • LOC130067213:ATAC-STARR-seq lymphoblastoid silent region 13612 [Gene]
  • LOC130067214:ATAC-STARR-seq lymphoblastoid silent region 13613 [Gene]
  • LOC130067217:ATAC-STARR-seq lymphoblastoid silent region 13614 [Gene]
  • LOC130067219:ATAC-STARR-seq lymphoblastoid silent region 13615 [Gene]
  • LOC130067220:ATAC-STARR-seq lymphoblastoid silent region 13616 [Gene]
  • LOC130067223:ATAC-STARR-seq lymphoblastoid silent region 13617 [Gene]
  • LOC130067224:ATAC-STARR-seq lymphoblastoid silent region 13618 [Gene]
  • LOC130067225:ATAC-STARR-seq lymphoblastoid silent region 13619 [Gene]
  • LOC130067229:ATAC-STARR-seq lymphoblastoid silent region 13620 [Gene]
  • LOC130067230:ATAC-STARR-seq lymphoblastoid silent region 13621 [Gene]
  • LOC130067232:ATAC-STARR-seq lymphoblastoid silent region 13622 [Gene]
  • LOC130067233:ATAC-STARR-seq lymphoblastoid silent region 13623 [Gene]
  • LOC130067235:ATAC-STARR-seq lymphoblastoid silent region 13624 [Gene]
  • LOC130067240:ATAC-STARR-seq lymphoblastoid silent region 13625 [Gene]
  • LOC130067241:ATAC-STARR-seq lymphoblastoid silent region 13626 [Gene]
  • LOC130067245:ATAC-STARR-seq lymphoblastoid silent region 13627 [Gene]
  • LOC130067246:ATAC-STARR-seq lymphoblastoid silent region 13628 [Gene]
  • LOC130067247:ATAC-STARR-seq lymphoblastoid silent region 13629 [Gene]
  • LOC130067248:ATAC-STARR-seq lymphoblastoid silent region 13630 [Gene]
  • LOC130067249:ATAC-STARR-seq lymphoblastoid silent region 13631 [Gene]
  • LOC130067252:ATAC-STARR-seq lymphoblastoid silent region 13634 [Gene]
  • LOC130067254:ATAC-STARR-seq lymphoblastoid silent region 13635 [Gene]
  • LOC130067259:ATAC-STARR-seq lymphoblastoid silent region 13637 [Gene]
  • LOC130067261:ATAC-STARR-seq lymphoblastoid silent region 13638 [Gene]
  • LOC130067263:ATAC-STARR-seq lymphoblastoid silent region 13642 [Gene]
  • LOC130067277:ATAC-STARR-seq lymphoblastoid silent region 13645 [Gene]
  • LOC130067278:ATAC-STARR-seq lymphoblastoid silent region 13646 [Gene]
  • LOC130067280:ATAC-STARR-seq lymphoblastoid silent region 13648 [Gene]
  • LOC130067281:ATAC-STARR-seq lymphoblastoid silent region 13649 [Gene]
  • LOC130067282:ATAC-STARR-seq lymphoblastoid silent region 13650 [Gene]
  • LOC130067284:ATAC-STARR-seq lymphoblastoid silent region 13651 [Gene]
  • LOC130067292:ATAC-STARR-seq lymphoblastoid silent region 13652 [Gene]
  • LOC130067294:ATAC-STARR-seq lymphoblastoid silent region 13653 [Gene]
  • LOC130067297:ATAC-STARR-seq lymphoblastoid silent region 13654 [Gene]
  • LOC130067298:ATAC-STARR-seq lymphoblastoid silent region 13655 [Gene]
  • LOC130067299:ATAC-STARR-seq lymphoblastoid silent region 13656 [Gene]
  • LOC130067307:ATAC-STARR-seq lymphoblastoid silent region 13659 [Gene]
  • LOC130067312:ATAC-STARR-seq lymphoblastoid silent region 13660 [Gene]
  • BCR:BCR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • LOC107963955:BCR-ABL major-breakpoint cluster region [Gene]
  • LOC107963948:BCR-ABL micro-breakpoint cluster region [Gene]
  • LOC107963947:BCR-ABL p200 breakpoint cluster region [Gene]
  • LOC107966125:BCR-ABL p225 breakpoint cluster region [Gene]
  • BPIFC:BPI fold containing family C [Gene - OMIM - HGNC]
  • LOC126863103:BRD4-independent group 4 enhancer GRCh37_chr22:26099534-26100733 [Gene]
  • LOC126863107:BRD4-independent group 4 enhancer GRCh37_chr22:26902046-26903245 [Gene]
  • LOC126863117:BRD4-independent group 4 enhancer GRCh37_chr22:29378648-29379847 [Gene]
  • LOC126863118:BRD4-independent group 4 enhancer GRCh37_chr22:30601719-30602918 [Gene]
  • LOC126863119:BRD4-independent group 4 enhancer GRCh37_chr22:30982632-30983831 [Gene]
  • LOC126863122:BRD4-independent group 4 enhancer GRCh37_chr22:32042322-32043521 [Gene]
  • LOC126863128:BRD4-independent group 4 enhancer GRCh37_chr22:35033073-35034272 [Gene]
  • CABP7-DT:CABP7 divergent transcript [Gene - HGNC]
  • LOC126863102:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:25421915-25423114 [Gene]
  • LOC126863105:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:26866926-26868125 [Gene]
  • LOC126863108:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:27179387-27180586 [Gene]
  • LOC126863110:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:27566132-27567331 [Gene]
  • LOC126863114:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:28604851-28606050 [Gene]
  • LOC126863116:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:29299851-29301050 [Gene]
  • LOC126863120:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:31112835-31114034 [Gene]
  • LOC126863125:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:33056914-33058113 [Gene]
  • LOC126863126:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:33506225-33507424 [Gene]
  • LOC126863129:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:35156231-35157430 [Gene]
  • LOC126863130:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:35300277-35301476 [Gene]
  • LOC126863131:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:35472054-35473253 [Gene]
  • LOC126863133:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:35718923-35720122 [Gene]
  • LOC116309128:CRISPRi-validated cis-regulatory element chr22.1058 [Gene]
  • LOC116309129:CRISPRi-validated cis-regulatory element chr22.1165 [Gene]
  • LOC116309130:CRISPRi-validated cis-regulatory element chr22.1257 [Gene]
  • DDTL:D-dopachrome tautomerase like [Gene - HGNC]
  • DDT:D-dopachrome tautomerase [Gene - OMIM - HGNC]
  • DEPDC5:DEP domain containing 5, GATOR1 subcomplex subunit [Gene - OMIM - HGNC]
  • EMID1:EMI domain containing 1 [Gene - OMIM - HGNC]
  • EWSR1:EWS RNA binding protein 1 [Gene - OMIM - HGNC]
  • FBXO7:F-box protein 7 [Gene - OMIM - HGNC]
  • GRK3:G protein-coupled receptor kinase 3 [Gene - OMIM - HGNC]
  • GRK3-AS1:GRK3 antisense RNA 1 [Gene - HGNC]
  • HMGXB4:HMG-box containing 4 [Gene - OMIM - HGNC]
  • HORMAD2:HORMA domain containing 2 [Gene - OMIM - HGNC]
  • HORMAD2-AS1:HORMAD2 and MTMR3 antisense RNA 1 [Gene - HGNC]
  • HPS4:HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 [Gene - OMIM - HGNC]
  • HSCB:HscB mitochondrial iron-sulfur cluster cochaperone [Gene - OMIM - HGNC]
  • KIAA1656:KIAA1656 protein [Gene]
  • KIAA1671-AS1:KIAA1671 antisense RNA 1 [Gene - HGNC]
  • KIAA1671:KIAA1671 [Gene - HGNC]
  • LARGE-AS1:LARGE antisense RNA 1 [Gene - HGNC]
  • LARGE1:LARGE xylosyl- and glucuronyltransferase 1 [Gene - OMIM - HGNC]
  • LHFPL7:LHFPL tetraspan subfamily member 7 [Gene - HGNC]
  • LIF-AS1:LIF antisense RNA 1 [Gene - HGNC]
  • LIF-AS2:LIF antisense RNA 2 [Gene - HGNC]
  • LIF:LIF interleukin 6 family cytokine [Gene - OMIM - HGNC]
  • LIMK2:LIM domain kinase 2 [Gene - OMIM - HGNC]
  • LOC126863104:MED14-independent group 3 enhancer GRCh37_chr22:26837982-26839181 [Gene]
  • LOC126863106:MED14-independent group 3 enhancer GRCh37_chr22:26889254-26890453 [Gene]
  • LOC126863115:MED14-independent group 3 enhancer GRCh37_chr22:28711524-28712723 [Gene]
  • LOC126863127:MED14-independent group 3 enhancer GRCh37_chr22:33833834-33835033 [Gene]
  • LOC126863132:MED14-independent group 3 enhancer GRCh37_chr22:35567219-35568418 [Gene]
  • LOC126863135:MED14-independent group 3 enhancer GRCh37_chr22:36448074-36449273 [Gene]
  • LOC126863136:MED14-independent group 3 enhancer GRCh37_chr22:36530251-36531450 [Gene]
  • MIATNB:MIAT neighbor [Gene - HGNC]
  • MIF-AS1:MIF antisense RNA 1 [Gene - HGNC]
  • MN1:MN1 proto-oncogene, transcriptional regulator [Gene - OMIM - HGNC]
  • MORC2:MORC family CW-type zinc finger 2 [Gene - OMIM - HGNC]
  • MORC2-AS1:MORC2 antisense RNA 1 [Gene - HGNC]
  • LOC129391273:MPRA-validated peak4472 silencer [Gene]
  • LOC129391274:MPRA-validated peak4474 silencer [Gene]
  • LOC129391275:MPRA-validated peak4478 silencer [Gene]
  • LOC129391276:MPRA-validated peak4480 silencer [Gene]
  • LOC129391277:MPRA-validated peak4481 silencer [Gene]
  • LOC129391278:MPRA-validated peak4483 silencer [Gene]
  • LOC129391279:MPRA-validated peak4484 silencer [Gene]
  • MYO18B-AS1:MYO18B antisense RNA 1 [Gene - HGNC]
  • NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]
  • LOC132090642:Neanderthal introgressed variant-containing enhancer experimental_63138 [Gene]
  • LOC132090643:Neanderthal introgressed variant-containing enhancer experimental_63172 [Gene]
  • LOC132090644:Neanderthal introgressed variant-containing enhancer experimental_63191 [Gene]
  • LOC132090645:Neanderthal introgressed variant-containing enhancer experimental_63195 [Gene]
  • LOC132090646:Neanderthal introgressed variant-containing enhancer experimental_63206 [Gene]
  • LOC132090647:Neanderthal introgressed variant-containing enhancer experimental_63211 [Gene]
  • LOC132090648:Neanderthal introgressed variant-containing enhancer experimental_63238 [Gene]
  • LOC132090649:Neanderthal introgressed variant-containing enhancer experimental_63240 [Gene]
  • LOC132090921:Neanderthal introgressed variant-containing enhancer experimental_63244 [Gene]
  • LOC108178988:OSBP2 intron CAGE-defined high expression enhancer [Gene]
  • LOC126863109:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:27415462-27416661 [Gene]
  • LOC108353816:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:27530043-27531242 [Gene]
  • LOC126863111:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:27622369-27623568 [Gene]
  • LOC126863112:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:27870511-27871710 [Gene]
  • LOC126863113:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:28113736-28114935 [Gene]
  • LOC126863121:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:31225743-31226942 [Gene]
  • LOC126863123:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:32057235-32058434 [Gene]
  • LOC126863124:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:32225023-32226222 [Gene]
  • LOC126863134:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:35772530-35773729 [Gene]
  • PIK3IP1-DT:PIK3IP1 divergent transcript [Gene - HGNC]
  • PATZ1:POZ/BTB and AT hook containing zinc finger 1 [Gene - OMIM - HGNC]
  • RASL10A:RAS like family 10 member A [Gene - OMIM - HGNC]
  • RASD2:RASD family member 2 [Gene - OMIM - HGNC]
  • RFPL1S:RFPL1 antisense RNA 1 [Gene - OMIM - HGNC]
  • RFPL3S:RFPL3 antisense [Gene - OMIM - HGNC]
  • RTCB:RNA 2',3'-cyclic phosphate and 5'-OH ligase [Gene - OMIM - HGNC]
  • RBFOX2:RNA binding fox-1 homolog 2 [Gene - OMIM - HGNC]
  • SEC14L2:SEC14 like lipid binding 2 [Gene - OMIM - HGNC]
  • SEC14L3:SEC14 like lipid binding 3 [Gene - OMIM - HGNC]
  • SEC14L4:SEC14 like lipid binding 4 [Gene - OMIM - HGNC]
  • SEC14L6:SEC14 like lipid binding 6 [Gene - HGNC]
  • SEZ6L-AS1:SEZ6L antisense RNA 1 [Gene - HGNC]
  • SFI1:SFI1 centrin binding protein [Gene - OMIM - HGNC]
  • SLC5A4-AS1:SLC5A4 antisense RNA 1 [Gene - HGNC]
  • SPECC1L-ADORA2A:SPECC1L-ADORA2A readthrough (NMD candidate) [Gene - HGNC]
  • SRRD:SRR1 domain containing [Gene - OMIM - HGNC]
  • SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]
  • SYN3-AS1:SYN3 antisense RNA 1 [Gene - HGNC]
  • LOC121853040:Sharpr-MPRA regulatory region 10016 [Gene]
  • LOC125424409:Sharpr-MPRA regulatory region 1002 [Gene]
  • LOC121627934:Sharpr-MPRA regulatory region 1007 [Gene]
  • LOC112695088:Sharpr-MPRA regulatory region 10159 [Gene]
  • LOC112695079:Sharpr-MPRA regulatory region 10236 [Gene]
  • LOC112694770:Sharpr-MPRA regulatory region 10281 [Gene]
  • LOC125446216:Sharpr-MPRA regulatory region 10283 [Gene]
  • LOC121853039:Sharpr-MPRA regulatory region 1030 [Gene]
  • LOC125446213:Sharpr-MPRA regulatory region 10387 [Gene]
  • LOC121627935:Sharpr-MPRA regulatory region 10625 [Gene]
  • LOC112695074:Sharpr-MPRA regulatory region 11195 [Gene]
  • LOC121853041:Sharpr-MPRA regulatory region 11360 [Gene]
  • LOC125446225:Sharpr-MPRA regulatory region 1139 [Gene]
  • LOC112695087:Sharpr-MPRA regulatory region 12398 [Gene]
  • LOC121627936:Sharpr-MPRA regulatory region 12592 [Gene]
  • LOC121627937:Sharpr-MPRA regulatory region 13066 [Gene]
  • LOC112695075:Sharpr-MPRA regulatory region 13625 [Gene]
  • LOC112695085:Sharpr-MPRA regulatory region 13794 [Gene]
  • LOC125446215:Sharpr-MPRA regulatory region 13809 [Gene]
  • LOC125424402:Sharpr-MPRA regulatory region 13977 [Gene]
  • LOC121853037:Sharpr-MPRA regulatory region 14204 [Gene]
  • LOC125424403:Sharpr-MPRA regulatory region 14748 [Gene]
  • LOC112695084:Sharpr-MPRA regulatory region 14933 [Gene]
  • LOC125424401:Sharpr-MPRA regulatory region 1539 [Gene]
  • LOC121627933:Sharpr-MPRA regulatory region 15419 [Gene]
  • LOC125424396:Sharpr-MPRA regulatory region 1554 [Gene]
  • LOC125446224:Sharpr-MPRA regulatory region 1840 [Gene]
  • LOC112695078:Sharpr-MPRA regulatory region 2042 [Gene]
  • LOC125424400:Sharpr-MPRA regulatory region 2564 [Gene]
  • LOC125446218:Sharpr-MPRA regulatory region 2577 [Gene]
  • LOC112695077:Sharpr-MPRA regulatory region 2653 [Gene]
  • LOC121853038:Sharpr-MPRA regulatory region 2919 [Gene]
  • LOC125424397:Sharpr-MPRA regulatory region 3008 [Gene]
  • LOC125424404:Sharpr-MPRA regulatory region 3066 [Gene]
  • LOC125446214:Sharpr-MPRA regulatory region 3108 [Gene]
  • LOC125446223:Sharpr-MPRA regulatory region 329 [Gene]
  • LOC121627938:Sharpr-MPRA regulatory region 3696 [Gene]
  • LOC125424398:Sharpr-MPRA regulatory region 3699 [Gene]
  • LOC125424395:Sharpr-MPRA regulatory region 3793 [Gene]
  • LOC112695080:Sharpr-MPRA regulatory region 4237 [Gene]
  • LOC125424393:Sharpr-MPRA regulatory region 4313 [Gene]
  • LOC112695081:Sharpr-MPRA regulatory region 4664 [Gene]
  • LOC125446226:Sharpr-MPRA regulatory region 479 [Gene]
  • LOC112695076:Sharpr-MPRA regulatory region 4816 [Gene]
  • LOC125446208:Sharpr-MPRA regulatory region 4838 [Gene]
  • LOC125446207:Sharpr-MPRA regulatory region 506 [Gene]
  • LOC125424413:Sharpr-MPRA regulatory region 5107 [Gene]
  • LOC112694772:Sharpr-MPRA regulatory region 5469 [Gene]
  • LOC125446219:Sharpr-MPRA regulatory region 5531 [Gene]
  • LOC125446209:Sharpr-MPRA regulatory region 5766 [Gene]
  • LOC112694771:Sharpr-MPRA regulatory region 5864 [Gene]
  • LOC125446220:Sharpr-MPRA regulatory region 592 [Gene]
  • LOC112695086:Sharpr-MPRA regulatory region 5994 [Gene]
  • LOC121627939:Sharpr-MPRA regulatory region 672 [Gene]
  • LOC125424408:Sharpr-MPRA regulatory region 7329 [Gene]
  • LOC125424394:Sharpr-MPRA regulatory region 8041 [Gene]
  • LOC121627940:Sharpr-MPRA regulatory region 8125 [Gene]
  • LOC125424407:Sharpr-MPRA regulatory region 8650 [Gene]
  • LOC121853042:Sharpr-MPRA regulatory region 8708 [Gene]
  • LOC125446212:Sharpr-MPRA regulatory region 8961 [Gene]
  • LOC125424410:Sharpr-MPRA regulatory region 9271 [Gene]
  • LOC125424399:Sharpr-MPRA regulatory region 9438 [Gene]
  • LOC125446222:Sharpr-MPRA regulatory region 960 [Gene]
  • LOC125446217:Sharpr-MPRA regulatory region 9733 [Gene]
  • LOC111828507:Sharpr-MPRA regulatory regions 2672 and 6919 [Gene]
  • LOC111828506:Sharpr-MPRA regulatory regions 962 and 2236 [Gene]
  • TBC1D10A:TBC1 domain family member 10A [Gene - OMIM - HGNC]
  • TFIP11-DT:TFIP11 divergent transcript [Gene - HGNC]
  • THOC5:THO complex subunit 5 [Gene - OMIM - HGNC]
  • TIMP3:TIMP metallopeptidase inhibitor 3 [Gene - OMIM - HGNC]
  • TTC28-AS1:TTC28 antisense RNA 1 [Gene - HGNC]
  • VPREB3:V-set pre-B cell surrogate light chain 3 [Gene - OMIM - HGNC]
  • LOC110121337:VISTA enhancer hs1271 [Gene]
  • LOC110121419:VISTA enhancer hs1645 [Gene]
  • LOC110121499:VISTA enhancer hs2240 [Gene]
  • XBP1:X-box binding protein 1 [Gene - OMIM - HGNC]
  • YWHAH-AS1:YWHAH antisense RNA 1 [Gene - HGNC]
  • ZNRF3-AS1:ZNRF3 antisense RNA 1 [Gene - HGNC]
  • ASCC2:activating signal cointegrator 1 complex subunit 2 [Gene - OMIM - HGNC]
  • AP1B1:adaptor related protein complex 1 subunit beta 1 [Gene - OMIM - HGNC]
  • ADORA2A:adenosine A2a receptor [Gene - OMIM - HGNC]
  • APOL2:apolipoprotein L2 [Gene - OMIM - HGNC]
  • APOL3:apolipoprotein L3 [Gene - OMIM - HGNC]
  • APOL4:apolipoprotein L4 [Gene - OMIM - HGNC]
  • APOL5:apolipoprotein L5 [Gene - OMIM - HGNC]
  • APOL6:apolipoprotein L6 [Gene - OMIM - HGNC]
  • ASPHD2:aspartate beta-hydroxylase domain containing 2 [Gene - HGNC]
  • DRICH1:aspartate rich 1 [Gene - HGNC]
  • UPB1:beta-ureidopropionase 1 [Gene - OMIM - HGNC]
  • CABIN1:calcineurin binding protein 1 [Gene - OMIM - HGNC]
  • CABP7:calcium binding protein 7 [Gene - OMIM - HGNC]
  • CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
  • C22orf15:chromosome 22 open reading frame 15 [Gene - HGNC]
  • C22orf31:chromosome 22 open reading frame 31 [Gene - HGNC]
  • C22orf42:chromosome 22 open reading frame 42 [Gene - HGNC]
  • CCDC117:coiled-coil domain containing 117 [Gene - HGNC]
  • CCDC157:coiled-coil domain containing 157 [Gene - OMIM - HGNC]
  • CHCHD10:coiled-coil-helix-coiled-coil-helix domain containing 10 [Gene - OMIM - HGNC]
  • LOC106780824:conserved acetylation island sequence 2 enhancer [Gene]
  • CRYBA4:crystallin beta A4 [Gene - OMIM - HGNC]
  • CRYBB1:crystallin beta B1 [Gene - OMIM - HGNC]
  • CRYBB2:crystallin beta B2 [Gene - OMIM - HGNC]
  • CRYBB3:crystallin beta B3 [Gene - OMIM - HGNC]
  • CPMER:cytoplasmic mesoderm regulator [Gene - HGNC]
  • CASTOR1:cytosolic arginine sensor for mTORC1 subunit 1 [Gene - OMIM - HGNC]
  • DERL3:derlin 3 [Gene - OMIM - HGNC]
  • DRG1:developmentally regulated GTP binding protein 1 [Gene - OMIM - HGNC]
  • DUSP18:dual specificity phosphatase 18 [Gene - OMIM - HGNC]
  • EIF4ENIF1:eukaryotic translation initiation factor 4E nuclear import factor 1 [Gene - OMIM - HGNC]
  • FAM230I:family with sequence similarity 230 member I [Gene - HGNC]
  • GAL3ST1:galactose-3-O-sulfotransferase 1 [Gene - OMIM - HGNC]
  • GGT1:gamma-glutamyltransferase 1 [Gene - OMIM - HGNC]
  • GGT5:gamma-glutamyltransferase 5 [Gene - OMIM - HGNC]
  • GSTT2:glutathione S-transferase theta 2 (gene/pseudogene) [Gene - OMIM - HGNC]
  • GSTT2B:glutathione S-transferase theta 2B [Gene - HGNC]
  • GSTT4:glutathione S-transferase theta 4 [Gene - HGNC]
  • GAS2L1:growth arrest specific 2 like 1 [Gene - OMIM - HGNC]
  • GUCD1:guanylyl cyclase domain containing 1 [Gene - OMIM - HGNC]
  • HMOX1:heme oxygenase 1 [Gene - OMIM - HGNC]
  • IGLL1:immunoglobulin lambda like polypeptide 1 [Gene - OMIM - HGNC]
  • INPP5J:inositol polyphosphate-5-phosphatase J [Gene - OMIM - HGNC]
  • ISX:intestine specific homeobox [Gene - OMIM - HGNC]
  • KREMEN1:kringle containing transmembrane protein 1 [Gene - OMIM - HGNC]
  • LRRC75B:leucine rich repeat containing 75B [Gene - HGNC]
  • LINC01399:long intergenic non-protein coding RNA 1399 [Gene - HGNC]
  • LINC01422:long intergenic non-protein coding RNA 1422 [Gene - HGNC]
  • LINC01521:long intergenic non-protein coding RNA 1521 [Gene - HGNC]
  • LINC01638:long intergenic non-protein coding RNA 1638 [Gene - HGNC]
  • LINC01640:long intergenic non-protein coding RNA 1640 [Gene - HGNC]
  • LINC01643:long intergenic non-protein coding RNA 1643 [Gene - HGNC]
  • LINC01659:long intergenic non-protein coding RNA 1659 [Gene - HGNC]
  • LINC02554:long intergenic non-protein coding RNA 2554 [Gene - HGNC]
  • LINC02556:long intergenic non-protein coding RNA 2556 [Gene - HGNC]
  • LINC02557:long intergenic non-protein coding RNA 2557 [Gene - HGNC]
  • LINC02558:long intergenic non-protein coding RNA 2558 [Gene - HGNC]
  • LINC02559:long intergenic non-protein coding RNA 2559 [Gene - HGNC]
  • LINC02885:long intergenic non-protein coding RNA 2885 [Gene - HGNC]
  • MIF:macrophage migration inhibitory factor [Gene - OMIM - HGNC]
  • MMP11:matrix metallopeptidase 11 [Gene - OMIM - HGNC]
  • MIR3199-1:microRNA 3199-1 [Gene - HGNC]
  • MIR3199-2:microRNA 3199-2 [Gene - HGNC]
  • MIR3200:microRNA 3200 [Gene - HGNC]
  • MIR3909:microRNA 3909 [Gene - HGNC]
  • MIR3928:microRNA 3928 [Gene - HGNC]
  • MIR4764:microRNA 4764 [Gene - HGNC]
  • MIR548J:microRNA 548j [Gene - HGNC]
  • MIR5739:microRNA 5739 [Gene - HGNC]
  • MIR6069:microRNA 6069 [Gene - HGNC]
  • MIR6817:microRNA 6817 [Gene - HGNC]
  • MIR6818:microRNA 6818 [Gene - HGNC]
  • MIR7109:microRNA 7109 [Gene - HGNC]
  • MCM5:minichromosome maintenance complex component 5 [Gene - OMIM - HGNC]
  • MTFP1:mitochondrial fission process 1 [Gene - OMIM - HGNC]
  • MIAT:myocardial infarction associated transcript [Gene - OMIM - HGNC]
  • MB:myoglobin [Gene - OMIM - HGNC]
  • MYO18B:myosin XVIIIB [Gene - OMIM - HGNC]
  • MTMR3:myotubularin related protein 3 [Gene - OMIM - HGNC]
  • NEFH:neurofilament heavy chain [Gene - OMIM - HGNC]
  • NIPSNAP1:nipsnap homolog 1 [Gene - OMIM - HGNC]
  • OSM:oncostatin M [Gene - OMIM - HGNC]
  • NOA3:origin of replication NOA3 [Gene]
  • LOC107275225:origin of replication in OSBP2 [Gene]
  • LOC107275221:origin of replication in RNF185 [Gene]
  • LOC107275224:origin of replication in TBC1D10A [Gene]
  • OSBP2:oxysterol binding protein 2 [Gene - OMIM - HGNC]
  • PES1:pescadillo ribosomal biogenesis factor 1 [Gene - OMIM - HGNC]
  • PITPNB:phosphatidylinositol transfer protein beta [Gene - OMIM - HGNC]
  • PISD:phosphatidylserine decarboxylase [Gene - OMIM - HGNC]
  • PIK3IP1:phosphoinositide-3-kinase interacting protein 1 [Gene - OMIM - HGNC]
  • PLA2G3:phospholipase A2 group III [Gene - OMIM - HGNC]
  • PIWIL3:piwi like RNA-mediated gene silencing 3 [Gene - OMIM - HGNC]
  • PRR14L:proline rich 14 like [Gene - HGNC]
  • PCAT14:prostate cancer associated transcript 14 [Gene - HGNC]
  • RGL4:ral guanine nucleotide dissociation stimulator like 4 [Gene - OMIM - HGNC]
  • RFPL1:ret finger protein like 1 [Gene - OMIM - HGNC]
  • RFPL2:ret finger protein like 2 [Gene - OMIM - HGNC]
  • RFPL3:ret finger protein like 3 [Gene - OMIM - HGNC]
  • RHBDD3:rhomboid domain containing 3 [Gene - HGNC]
  • RNF185:ring finger protein 185 [Gene - OMIM - HGNC]
  • RNF215:ring finger protein 215 [Gene - HGNC]
  • SEZ6L:seizure related 6 homolog like [Gene - OMIM - HGNC]
  • SELENOM:selenoprotein M [Gene - OMIM - HGNC]
  • LOC111721702:skeletal muscle cis-regulatory module in CABIN1 intron [Gene]
  • LOC111721701:skeletal muscle cis-regulatory module in DERL3 and SLC2A11 intergenic region [Gene]
  • SGSM1:small G protein signaling modulator 1 [Gene - OMIM - HGNC]
  • SNRPD3:small nuclear ribonucleoprotein D3 polypeptide [Gene - OMIM - HGNC]
  • SNORD125:small nucleolar RNA, C/D box 125 [Gene - HGNC]
  • SNORA50B:small nucleolar RNA, H/ACA box 50B [Gene - HGNC]
  • SMTN:smoothelin [Gene - OMIM - HGNC]
  • SLC2A11:solute carrier family 2 member 11 [Gene - OMIM - HGNC]
  • SLC35E4:solute carrier family 35 member E4 [Gene - HGNC]
  • SLC5A1:solute carrier family 5 member 1 [Gene - OMIM - HGNC]
  • SLC5A4:solute carrier family 5 member 4 [Gene - OMIM - HGNC]
  • SPECC1L:sperm antigen with calponin homology and coiled-coil domains 1 like [Gene - OMIM - HGNC]
  • SF3A1:splicing factor 3a subunit 1 [Gene - OMIM - HGNC]
  • SUSD2:sushi domain containing 2 [Gene - OMIM - HGNC]
  • SYN3:synapsin III [Gene - OMIM - HGNC]
  • TOM1:target of myb1 membrane trafficking protein [Gene - OMIM - HGNC]
  • TUG1:taurine up-regulated 1 [Gene - OMIM - HGNC]
  • TTC28:tetratricopeptide repeat domain 28 [Gene - OMIM - HGNC]
  • TCN2:transcobalamin 2 [Gene - OMIM - HGNC]
  • TFIP11:tuftelin interacting protein 11 [Gene - OMIM - HGNC]
  • YWHAH:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta [Gene - OMIM - HGNC]
  • TPST2:tyrosylprotein sulfotransferase 2 [Gene - OMIM - HGNC]
  • UQCR10:ubiquinol-cytochrome c reductase, complex III subunit X [Gene - OMIM - HGNC]
  • LOC105372969:uncharacterized LOC105372969 [Gene]
  • LOC105372971:uncharacterized LOC105372971 [Gene]
  • LOC105372977:uncharacterized LOC105372977 [Gene]
  • LOC105372988:uncharacterized LOC105372988 [Gene]
  • LOC105372990:uncharacterized LOC105372990 [Gene]
  • LOC107985544:uncharacterized LOC107985544 [Gene]
  • LOC110091768:uncharacterized LOC110091768 [Gene]
  • LOC284898:uncharacterized LOC284898 [Gene]
  • LOC284912:uncharacterized LOC284912 [Gene]
  • LOC339666:uncharacterized LOC339666 [Gene]
  • ZNRF3:zinc and ring finger 3 [Gene - OMIM - HGNC]
  • ZMAT5:zinc finger matrin-type 5 [Gene - OMIM - HGNC]
  • ZNF70:zinc finger protein 70 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
22q11.23-12.3
Genomic location:
Preferred name:
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3
HGVS:
  • NC_000022.11:g.(?_23279231)_(36247369_?)dup
  • NC_000022.10:g.(?_23621418)_(36643415_?)dup
  • NC_000022.9:g.(?_21951418)_(34973361_?)dup
Links:
dbVar: nssv1495103; dbVar: nsv869372
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000178439ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Feb 14, 2012) 		not providedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000178439.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023