GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 AND See cases

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

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:: RCV000050768.6

Allele description

GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3

Genes:

ADORA2A-AS1:ADORA2A antisense RNA 1 [Gene - HGNC]
ARVCF:ARVCF delta catenin family member [Gene - OMIM - HGNC]
LOC130066953:ATAC-STARR-seq lymphoblastoid active region 18658 [Gene]
LOC130066957:ATAC-STARR-seq lymphoblastoid active region 18660 [Gene]
LOC130066959:ATAC-STARR-seq lymphoblastoid active region 18663 [Gene]
LOC130066963:ATAC-STARR-seq lymphoblastoid active region 18664 [Gene]
LOC130066964:ATAC-STARR-seq lymphoblastoid active region 18665 [Gene]
LOC130066968:ATAC-STARR-seq lymphoblastoid active region 18666 [Gene]
LOC130066969:ATAC-STARR-seq lymphoblastoid active region 18667 [Gene]
LOC130066970:ATAC-STARR-seq lymphoblastoid active region 18668 [Gene]
LOC130066971:ATAC-STARR-seq lymphoblastoid active region 18669 [Gene]
LOC130066973:ATAC-STARR-seq lymphoblastoid active region 18670 [Gene]
LOC130066977:ATAC-STARR-seq lymphoblastoid active region 18671 [Gene]
LOC130066982:ATAC-STARR-seq lymphoblastoid active region 18672 [Gene]
LOC130066984:ATAC-STARR-seq lymphoblastoid active region 18673 [Gene]
LOC130066995:ATAC-STARR-seq lymphoblastoid active region 18678 [Gene]
LOC130066997:ATAC-STARR-seq lymphoblastoid active region 18679 [Gene]
LOC130066998:ATAC-STARR-seq lymphoblastoid active region 18680 [Gene]
LOC130066999:ATAC-STARR-seq lymphoblastoid active region 18681 [Gene]
LOC130067000:ATAC-STARR-seq lymphoblastoid active region 18682 [Gene]
LOC130067002:ATAC-STARR-seq lymphoblastoid active region 18683 [Gene]
LOC130067004:ATAC-STARR-seq lymphoblastoid active region 18684 [Gene]
LOC130067005:ATAC-STARR-seq lymphoblastoid active region 18685 [Gene]
LOC130067006:ATAC-STARR-seq lymphoblastoid active region 18686 [Gene]
LOC130067007:ATAC-STARR-seq lymphoblastoid active region 18687 [Gene]
LOC130067009:ATAC-STARR-seq lymphoblastoid active region 18688 [Gene]
LOC130067011:ATAC-STARR-seq lymphoblastoid active region 18689 [Gene]
LOC130067012:ATAC-STARR-seq lymphoblastoid active region 18690 [Gene]
LOC130067013:ATAC-STARR-seq lymphoblastoid active region 18691 [Gene]
LOC130067014:ATAC-STARR-seq lymphoblastoid active region 18692 [Gene]
LOC130067015:ATAC-STARR-seq lymphoblastoid active region 18693 [Gene]
LOC130067017:ATAC-STARR-seq lymphoblastoid active region 18694 [Gene]
LOC130067020:ATAC-STARR-seq lymphoblastoid active region 18695 [Gene]
LOC130067023:ATAC-STARR-seq lymphoblastoid active region 18698 [Gene]
LOC130067029:ATAC-STARR-seq lymphoblastoid active region 18702 [Gene]
LOC130067030:ATAC-STARR-seq lymphoblastoid active region 18703 [Gene]
LOC130067031:ATAC-STARR-seq lymphoblastoid active region 18704 [Gene]
LOC130067034:ATAC-STARR-seq lymphoblastoid active region 18705 [Gene]
LOC130067035:ATAC-STARR-seq lymphoblastoid active region 18706 [Gene]
LOC130067036:ATAC-STARR-seq lymphoblastoid active region 18707 [Gene]
LOC130067037:ATAC-STARR-seq lymphoblastoid active region 18708 [Gene]
LOC130067038:ATAC-STARR-seq lymphoblastoid active region 18709 [Gene]
LOC130067039:ATAC-STARR-seq lymphoblastoid active region 18710 [Gene]
LOC130067041:ATAC-STARR-seq lymphoblastoid active region 18712 [Gene]
LOC130067043:ATAC-STARR-seq lymphoblastoid active region 18713 [Gene]
LOC130067045:ATAC-STARR-seq lymphoblastoid active region 18714 [Gene]
LOC130067046:ATAC-STARR-seq lymphoblastoid active region 18715 [Gene]
LOC130067047:ATAC-STARR-seq lymphoblastoid active region 18719 [Gene]
LOC130067048:ATAC-STARR-seq lymphoblastoid active region 18720 [Gene]
LOC130067050:ATAC-STARR-seq lymphoblastoid active region 18721 [Gene]
LOC130067051:ATAC-STARR-seq lymphoblastoid active region 18722 [Gene]
LOC130067052:ATAC-STARR-seq lymphoblastoid active region 18723 [Gene]
LOC130067057:ATAC-STARR-seq lymphoblastoid active region 18724 [Gene]
LOC130067058:ATAC-STARR-seq lymphoblastoid active region 18725 [Gene]
LOC130067059:ATAC-STARR-seq lymphoblastoid active region 18726 [Gene]
LOC130067060:ATAC-STARR-seq lymphoblastoid active region 18727 [Gene]
LOC130067061:ATAC-STARR-seq lymphoblastoid active region 18728 [Gene]
LOC130067062:ATAC-STARR-seq lymphoblastoid active region 18729 [Gene]
LOC130067063:ATAC-STARR-seq lymphoblastoid active region 18730 [Gene]
LOC130067065:ATAC-STARR-seq lymphoblastoid active region 18731 [Gene]
LOC130067066:ATAC-STARR-seq lymphoblastoid active region 18732 [Gene]
LOC130067067:ATAC-STARR-seq lymphoblastoid active region 18733 [Gene]
LOC130067068:ATAC-STARR-seq lymphoblastoid active region 18734 [Gene]
LOC130067069:ATAC-STARR-seq lymphoblastoid active region 18735 [Gene]
LOC130067070:ATAC-STARR-seq lymphoblastoid active region 18736 [Gene]
LOC130067071:ATAC-STARR-seq lymphoblastoid active region 18737 [Gene]
LOC130067073:ATAC-STARR-seq lymphoblastoid active region 18738 [Gene]
LOC130067074:ATAC-STARR-seq lymphoblastoid active region 18739 [Gene]
LOC130067075:ATAC-STARR-seq lymphoblastoid active region 18740 [Gene]
LOC130067076:ATAC-STARR-seq lymphoblastoid active region 18741 [Gene]
LOC130067078:ATAC-STARR-seq lymphoblastoid active region 18742 [Gene]
LOC130067079:ATAC-STARR-seq lymphoblastoid active region 18743 [Gene]
LOC130067080:ATAC-STARR-seq lymphoblastoid active region 18744 [Gene]
LOC130067083:ATAC-STARR-seq lymphoblastoid active region 18746 [Gene]
LOC130067084:ATAC-STARR-seq lymphoblastoid active region 18747 [Gene]
LOC130067086:ATAC-STARR-seq lymphoblastoid active region 18748 [Gene]
LOC130067087:ATAC-STARR-seq lymphoblastoid active region 18749 [Gene]
LOC129929043:ATAC-STARR-seq lymphoblastoid active region 18750 [Gene]
LOC129869693:ATAC-STARR-seq lymphoblastoid active region 18751 [Gene]
LOC130067092:ATAC-STARR-seq lymphoblastoid active region 18753 [Gene]
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]
LOC130066948:ATAC-STARR-seq lymphoblastoid silent region 13450 [Gene]
LOC130066949:ATAC-STARR-seq lymphoblastoid silent region 13451 [Gene]
LOC130066950:ATAC-STARR-seq lymphoblastoid silent region 13452 [Gene]
LOC130066951:ATAC-STARR-seq lymphoblastoid silent region 13454 [Gene]
LOC130066952:ATAC-STARR-seq lymphoblastoid silent region 13457 [Gene]
LOC130066954:ATAC-STARR-seq lymphoblastoid silent region 13459 [Gene]
LOC130066955:ATAC-STARR-seq lymphoblastoid silent region 13460 [Gene]
LOC130066956:ATAC-STARR-seq lymphoblastoid silent region 13462 [Gene]
LOC130066958:ATAC-STARR-seq lymphoblastoid silent region 13463 [Gene]
LOC130066960:ATAC-STARR-seq lymphoblastoid silent region 13467 [Gene]
LOC130066961:ATAC-STARR-seq lymphoblastoid silent region 13468 [Gene]
LOC130066962:ATAC-STARR-seq lymphoblastoid silent region 13469 [Gene]
LOC130066965:ATAC-STARR-seq lymphoblastoid silent region 13470 [Gene]
LOC130066966:ATAC-STARR-seq lymphoblastoid silent region 13471 [Gene]
LOC130066967:ATAC-STARR-seq lymphoblastoid silent region 13472 [Gene]
LOC130066972:ATAC-STARR-seq lymphoblastoid silent region 13473 [Gene]
LOC130066974:ATAC-STARR-seq lymphoblastoid silent region 13474 [Gene]
LOC130066975:ATAC-STARR-seq lymphoblastoid silent region 13475 [Gene]
LOC130066976:ATAC-STARR-seq lymphoblastoid silent region 13476 [Gene]
LOC130066978:ATAC-STARR-seq lymphoblastoid silent region 13477 [Gene]
LOC130066979:ATAC-STARR-seq lymphoblastoid silent region 13478 [Gene]
LOC130066980:ATAC-STARR-seq lymphoblastoid silent region 13481 [Gene]
LOC130066981:ATAC-STARR-seq lymphoblastoid silent region 13482 [Gene]
LOC130066983:ATAC-STARR-seq lymphoblastoid silent region 13484 [Gene]
LOC130066985:ATAC-STARR-seq lymphoblastoid silent region 13485 [Gene]
LOC130066986:ATAC-STARR-seq lymphoblastoid silent region 13486 [Gene]
LOC130066987:ATAC-STARR-seq lymphoblastoid silent region 13487 [Gene]
LOC130066988:ATAC-STARR-seq lymphoblastoid silent region 13488 [Gene]
LOC130066989:ATAC-STARR-seq lymphoblastoid silent region 13489 [Gene]
LOC130066990:ATAC-STARR-seq lymphoblastoid silent region 13490 [Gene]
LOC130066991:ATAC-STARR-seq lymphoblastoid silent region 13491 [Gene]
LOC130066992:ATAC-STARR-seq lymphoblastoid silent region 13492 [Gene]
LOC130066993:ATAC-STARR-seq lymphoblastoid silent region 13493 [Gene]
LOC130066994:ATAC-STARR-seq lymphoblastoid silent region 13494 [Gene]
LOC130066996:ATAC-STARR-seq lymphoblastoid silent region 13496 [Gene]
LOC130067001:ATAC-STARR-seq lymphoblastoid silent region 13497 [Gene]
LOC130067003:ATAC-STARR-seq lymphoblastoid silent region 13499 [Gene]
LOC130067008:ATAC-STARR-seq lymphoblastoid silent region 13500 [Gene]
LOC130067010:ATAC-STARR-seq lymphoblastoid silent region 13502 [Gene]
LOC130067016:ATAC-STARR-seq lymphoblastoid silent region 13504 [Gene]
LOC130067018:ATAC-STARR-seq lymphoblastoid silent region 13505 [Gene]
LOC130067019:ATAC-STARR-seq lymphoblastoid silent region 13506 [Gene]
LOC130067021:ATAC-STARR-seq lymphoblastoid silent region 13507 [Gene]
LOC130067022:ATAC-STARR-seq lymphoblastoid silent region 13508 [Gene]
LOC130067024:ATAC-STARR-seq lymphoblastoid silent region 13509 [Gene]
LOC130067025:ATAC-STARR-seq lymphoblastoid silent region 13510 [Gene]
LOC130067026:ATAC-STARR-seq lymphoblastoid silent region 13511 [Gene]
LOC130067027:ATAC-STARR-seq lymphoblastoid silent region 13512 [Gene]
LOC130067028:ATAC-STARR-seq lymphoblastoid silent region 13513 [Gene]
LOC130067032:ATAC-STARR-seq lymphoblastoid silent region 13514 [Gene]
LOC130067033:ATAC-STARR-seq lymphoblastoid silent region 13515 [Gene]
LOC130067040:ATAC-STARR-seq lymphoblastoid silent region 13517 [Gene]
LOC130067042:ATAC-STARR-seq lymphoblastoid silent region 13519 [Gene]
LOC130067044:ATAC-STARR-seq lymphoblastoid silent region 13520 [Gene]
LOC130067049:ATAC-STARR-seq lymphoblastoid silent region 13522 [Gene]
LOC130067053:ATAC-STARR-seq lymphoblastoid silent region 13523 [Gene]
LOC130067054:ATAC-STARR-seq lymphoblastoid silent region 13524 [Gene]
LOC130067055:ATAC-STARR-seq lymphoblastoid silent region 13525 [Gene]
LOC130067056:ATAC-STARR-seq lymphoblastoid silent region 13526 [Gene]
LOC130067064:ATAC-STARR-seq lymphoblastoid silent region 13527 [Gene]
LOC130067072:ATAC-STARR-seq lymphoblastoid silent region 13528 [Gene]
LOC130067077:ATAC-STARR-seq lymphoblastoid silent region 13529 [Gene]
LOC130067081:ATAC-STARR-seq lymphoblastoid silent region 13530 [Gene]
LOC130067082:ATAC-STARR-seq lymphoblastoid silent region 13531 [Gene]
LOC130067085:ATAC-STARR-seq lymphoblastoid silent region 13532 [Gene]
LOC130067088:ATAC-STARR-seq lymphoblastoid silent region 13533 [Gene]
LOC130067089:ATAC-STARR-seq lymphoblastoid silent region 13534 [Gene]
LOC130067090:ATAC-STARR-seq lymphoblastoid silent region 13535 [Gene]
LOC130067091:ATAC-STARR-seq lymphoblastoid silent region 13536 [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]
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]
LOC107963951:BCR-ABL minor-breakpoint cluster region [Gene]
LOC107966121:BCR-ABL p195 breakpoint cluster region [Gene]
LOC107963947:BCR-ABL p200 breakpoint cluster region [Gene]
LOC107966125:BCR-ABL p225 breakpoint cluster region [Gene]
LOC126863097:BRD4-independent group 4 enhancer GRCh37_chr22:19220751-19221950 [Gene]
LOC126863098:BRD4-independent group 4 enhancer GRCh37_chr22:19894389-19895588 [Gene]
LOC126863100:BRD4-independent group 4 enhancer GRCh37_chr22:22145734-22146933 [Gene]
LOC126863101:BRD4-independent group 4 enhancer GRCh37_chr22:22874253-22875452 [Gene]
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]
CABP7-DT:CABP7 divergent transcript [Gene - HGNC]
LOC126863099:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:22064332-22065531 [Gene]
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]
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]
LOC116309126:CRISPRi-validated cis-regulatory element chr22.250 [Gene]
LOC116309127:CRISPRi-validated cis-regulatory element chr22.431 [Gene]
CRKL:CRK like proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
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]
DGCR8:DGCR8 microprocessor complex subunit [Gene - OMIM - HGNC]
TOP3B:DNA topoisomerase III beta [Gene - OMIM - HGNC]
DGCR11:DiGeorge syndrome critical region gene 11 [Gene - HGNC]
DGCR2:DiGeorge syndrome critical region gene 2 [Gene - OMIM - HGNC]
DGCR5:DiGeorge syndrome critical region gene 5 [Gene - OMIM - HGNC]
DGCR6L:DiGeorge syndrome critical region gene 6 like [Gene - OMIM - HGNC]
DGCR6:DiGeorge syndrome critical region gene 6 [Gene - OMIM - HGNC]
EMID1:EMI domain containing 1 [Gene - OMIM - HGNC]
EWSR1:EWS RNA binding protein 1 [Gene - OMIM - HGNC]
GNAZ:G protein subunit alpha z [Gene - OMIM - HGNC]
GNB1L:G protein subunit beta 1 like [Gene - OMIM - HGNC]
GRK3:G protein-coupled receptor kinase 3 [Gene - OMIM - HGNC]
GRK3-AS1:GRK3 antisense RNA 1 [Gene - HGNC]
HIC2:HIC ZBTB transcriptional repressor 2 [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]
LOC108491837:IGL region enhancer-blocking element 22-2 [Gene]
KIAA1656:KIAA1656 protein [Gene]
KIAA1671-AS1:KIAA1671 antisense RNA 1 [Gene - HGNC]
KIAA1671:KIAA1671 [Gene - 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]
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]
LOC129391263:MPRA-validated peak4453 silencer [Gene]
LOC129391262:MPRA-validated peak4455 silencer [Gene]
LOC129391264:MPRA-validated peak4456 silencer [Gene]
LOC129391265:MPRA-validated peak4458 silencer [Gene]
LOC129391266:MPRA-validated peak4460 silencer [Gene]
LOC129391267:MPRA-validated peak4461 silencer [Gene]
LOC129391268:MPRA-validated peak4462 silencer [Gene]
LOC129391269:MPRA-validated peak4464 silencer [Gene]
LOC129391270:MPRA-validated peak4465 silencer [Gene]
LOC129391271:MPRA-validated peak4466 silencer [Gene]
LOC129391272:MPRA-validated peak4467 silencer [Gene]
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]
MYO18B-AS1:MYO18B antisense RNA 1 [Gene - HGNC]
NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]
LOC132090627:Neanderthal introgressed variant-containing enhancer experimental_62558 [Gene]
LOC132090918:Neanderthal introgressed variant-containing enhancer experimental_62637 [Gene]
LOC132090919:Neanderthal introgressed variant-containing enhancer experimental_62654 [Gene]
LOC132090920:Neanderthal introgressed variant-containing enhancer experimental_62657 [Gene]
LOC132090628:Neanderthal introgressed variant-containing enhancer experimental_62670 [Gene]
LOC132090629:Neanderthal introgressed variant-containing enhancer experimental_62725 [Gene]
LOC132090630:Neanderthal introgressed variant-containing enhancer experimental_62734 [Gene]
LOC132090631:Neanderthal introgressed variant-containing enhancer experimental_62743 [Gene]
LOC132090632:Neanderthal introgressed variant-containing enhancer experimental_62777 [Gene]
LOC132090633:Neanderthal introgressed variant-containing enhancer experimental_62783 [Gene]
LOC132090634:Neanderthal introgressed variant-containing enhancer experimental_62800 [Gene]
LOC132090635:Neanderthal introgressed variant-containing enhancer experimental_62813 [Gene]
LOC132090636:Neanderthal introgressed variant-containing enhancer experimental_62823 [Gene]
LOC132090637:Neanderthal introgressed variant-containing enhancer experimental_62834 [Gene]
LOC132090638:Neanderthal introgressed variant-containing enhancer experimental_62844 [Gene]
LOC132090639:Neanderthal introgressed variant-containing enhancer experimental_63007 [Gene]
LOC132090640:Neanderthal introgressed variant-containing enhancer experimental_63076 [Gene]
LOC132090641:Neanderthal introgressed variant-containing enhancer experimental_63111 [Gene]
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]
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]
PIK3IP1-DT:PIK3IP1 divergent transcript [Gene - HGNC]
PATZ1:POZ/BTB and AT hook containing zinc finger 1 [Gene - OMIM - HGNC]
PPM1F-AS1:PPM1F antisense RNA 1 [Gene - HGNC]
PRAME:PRAME nuclear receptor transcriptional regulator [Gene - OMIM - HGNC]
RAB36:RAB36, member RAS oncogene family [Gene - OMIM - HGNC]
LOC108491832:RAB36-BCR intergenic enhancer-blocking element 22-1 [Gene]
RANBP1:RAN binding protein 1 [Gene - OMIM - HGNC]
RASL10A:RAS like family 10 member A [Gene - OMIM - HGNC]
RFPL1S:RFPL1 antisense RNA 1 [Gene - OMIM - HGNC]
RIMBP3:RIMS binding protein 3 [Gene - OMIM - HGNC]
RIMBP3B:RIMS binding protein 3B [Gene - OMIM - HGNC]
RIMBP3C:RIMS binding protein 3C [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]
SEPT5-GP1BB:SEPT5-GP1BB readthrough [Gene]
SEZ6L-AS1:SEZ6L antisense RNA 1 [Gene - HGNC]
SFI1:SFI1 centrin binding protein [Gene - OMIM - 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]
LOC121853040:Sharpr-MPRA regulatory region 10016 [Gene]
LOC125424409:Sharpr-MPRA regulatory region 1002 [Gene]
LOC121627934:Sharpr-MPRA regulatory region 1007 [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]
LOC121627931:Sharpr-MPRA regulatory region 10319 [Gene]
LOC125446213:Sharpr-MPRA regulatory region 10387 [Gene]
LOC112694764:Sharpr-MPRA regulatory region 10527 [Gene]
LOC121627930:Sharpr-MPRA regulatory region 10582 [Gene]
LOC121627935:Sharpr-MPRA regulatory region 10625 [Gene]
LOC125424389:Sharpr-MPRA regulatory region 10827 [Gene]
LOC112695074:Sharpr-MPRA regulatory region 11195 [Gene]
LOC125424387:Sharpr-MPRA regulatory region 11316 [Gene]
LOC114004361:Sharpr-MPRA regulatory region 11686 [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]
LOC121627929:Sharpr-MPRA regulatory region 13949 [Gene]
LOC125424402:Sharpr-MPRA regulatory region 13977 [Gene]
LOC121853037:Sharpr-MPRA regulatory region 14204 [Gene]
LOC121627932:Sharpr-MPRA regulatory region 14215 [Gene]
LOC125424403:Sharpr-MPRA regulatory region 14748 [Gene]
LOC112695084:Sharpr-MPRA regulatory region 14933 [Gene]
LOC125424386:Sharpr-MPRA regulatory region 15144 [Gene]
LOC125424401:Sharpr-MPRA regulatory region 1539 [Gene]
LOC121627933:Sharpr-MPRA regulatory region 15419 [Gene]
LOC125424396:Sharpr-MPRA regulatory region 1554 [Gene]
LOC125424390:Sharpr-MPRA regulatory region 1853 [Gene]
LOC112695078:Sharpr-MPRA regulatory region 2042 [Gene]
LOC112694766:Sharpr-MPRA regulatory region 2516 [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]
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]
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]
LOC125446209:Sharpr-MPRA regulatory region 5766 [Gene]
LOC112694771:Sharpr-MPRA regulatory region 5864 [Gene]
LOC121853036:Sharpr-MPRA regulatory region 5876 [Gene]
LOC125424391:Sharpr-MPRA regulatory region 5890 [Gene]
LOC112695086:Sharpr-MPRA regulatory region 5994 [Gene]
LOC125424408:Sharpr-MPRA regulatory region 7329 [Gene]
LOC125424392:Sharpr-MPRA regulatory region 7390 [Gene]
LOC121853035:Sharpr-MPRA regulatory region 7478 [Gene]
LOC112694768:Sharpr-MPRA regulatory region 76 [Gene]
LOC125424394:Sharpr-MPRA regulatory region 8041 [Gene]
LOC112694767:Sharpr-MPRA regulatory region 818 [Gene]
LOC125424407:Sharpr-MPRA regulatory region 8650 [Gene]
LOC125446212:Sharpr-MPRA regulatory region 8961 [Gene]
LOC125424410:Sharpr-MPRA regulatory region 9271 [Gene]
LOC125424399:Sharpr-MPRA regulatory region 9438 [Gene]
LOC125446217:Sharpr-MPRA regulatory region 9733 [Gene]
LOC125424388:Sharpr-MPRA regulatory region 9836 [Gene]
LOC111828507:Sharpr-MPRA regulatory regions 2672 and 6919 [Gene]
LOC111828506:Sharpr-MPRA regulatory regions 962 and 2236 [Gene]
TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]
TBC1D10A:TBC1 domain family member 10A [Gene - OMIM - HGNC]
TFIP11-DT:TFIP11 divergent transcript [Gene - HGNC]
THAP7:THAP domain containing 7 [Gene - OMIM - HGNC]
THAP7-AS1:THAP7 antisense RNA 1 [Gene - HGNC]
THOC5:THO complex subunit 5 [Gene - OMIM - HGNC]
TTC28-AS1:TTC28 antisense RNA 1 [Gene - HGNC]
UFD1-AS1:UFD1 antisense RNA 1 [Gene - HGNC]
VPREB1:V-set pre-B cell surrogate light chain 1 [Gene - OMIM - HGNC]
VPREB3:V-set pre-B cell surrogate light chain 3 [Gene - OMIM - HGNC]
LOC110121337:VISTA enhancer hs1271 [Gene]
LOC110121413:VISTA enhancer hs1620 [Gene]
LOC110121419:VISTA enhancer hs1645 [Gene]
LOC110121474:VISTA enhancer hs2026 [Gene]
LOC110121499:VISTA enhancer hs2240 [Gene]
LOC110120888:VISTA enhancer hs515 [Gene]
XBP1:X-box binding protein 1 [Gene - OMIM - HGNC]
YDJC:YdjC chitooligosaccharide deacetylase homolog [Gene - OMIM - 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]
AIFM3:apoptosis inducing factor mitochondria associated 3 [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]
COMT:catechol-O-methyltransferase [Gene - OMIM - HGNC]
CDC45:cell division cycle 45 [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]
C22orf39:chromosome 22 open reading frame 39 [Gene - HGNC]
CLTCL1:clathrin heavy chain like 1 [Gene - OMIM - HGNC]
CLDN5:claudin 5 [Gene - OMIM - HGNC]
CCDC116:coiled-coil domain containing 116 [Gene - HGNC]
CCDC117:coiled-coil domain containing 117 [Gene - HGNC]
CCDC157:coiled-coil domain containing 157 [Gene - OMIM - HGNC]
CCDC188:coiled-coil domain containing 188 [Gene - 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]
LOC108510655:enhancer-blocking element 22-3 upstream of CCDC188 [Gene]
ESS2:ess-2 splicing factor homolog [Gene - OMIM - HGNC]
EIF4ENIF1:eukaryotic translation initiation factor 4E nuclear import factor 1 [Gene - OMIM - HGNC]
FAM230A:family with sequence similarity 230 member A [Gene - HGNC]
FAM230B:family with sequence similarity 230 member B [Gene - HGNC]
FAM230D:family with sequence similarity 230 member D [Gene - HGNC]
FAM230E:family with sequence similarity 230 member E [Gene - HGNC]
FAM230F:family with sequence similarity 230 member F [Gene - HGNC]
FAM230G:family with sequence similarity 230 member G [Gene - HGNC]
FAM230H:family with sequence similarity 230 member H [Gene - HGNC]
FAM230I:family with sequence similarity 230 member I [Gene - HGNC]
FAM230J:family with sequence similarity 230 member J [Gene - HGNC]
FAM246A:family with sequence similarity 246 member A [Gene - HGNC]
FAM246B:family with sequence similarity 246 member B [Gene - HGNC]
FAM246C:family with sequence similarity 246 member C (gene/pseudogene) [Gene - HGNC]
FAM247A:family with sequence similarity 247 member A [Gene - HGNC]
FAM247B:family with sequence similarity 247 member B [Gene - HGNC]
GAL3ST1:galactose-3-O-sulfotransferase 1 [Gene - OMIM - HGNC]
GGT1:gamma-glutamyltransferase 1 [Gene - OMIM - HGNC]
GGT2:gamma-glutamyltransferase 2 [Gene - OMIM - HGNC]
GGT5:gamma-glutamyltransferase 5 [Gene - OMIM - HGNC]
GGTLC2:gamma-glutamyltransferase light chain 2 [Gene - OMIM - HGNC]
GGTLC3:gamma-glutamyltransferase light chain family member 3 [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]
GP1BB:glycoprotein Ib platelet subunit beta [Gene - OMIM - HGNC]
GSC2:goosecoid homeobox 2 [Gene - OMIM - HGNC]
GAS2L1:growth arrest specific 2 like 1 [Gene - OMIM - HGNC]
GUCD1:guanylyl cyclase domain containing 1 [Gene - OMIM - HGNC]
HIRA:histone cell cycle regulator [Gene - OMIM - HGNC]
HSERVPRODH:human-specific endogenous retroviral insert PRODH enhancer [Gene]
IGLC1:immunoglobulin lambda constant 1 [Gene - OMIM - HGNC]
IGLC2:immunoglobulin lambda constant 2 [Gene - HGNC]
IGLC3:immunoglobulin lambda constant 3 (Kern-Oz+ marker) [Gene - HGNC]
IGLC7:immunoglobulin lambda constant 7 [Gene - HGNC]
IGLJ1:immunoglobulin lambda joining 1 [Gene - HGNC]
IGLJ2:immunoglobulin lambda joining 2 [Gene - HGNC]
IGLJ3:immunoglobulin lambda joining 3 [Gene - HGNC]
IGLJ4:immunoglobulin lambda joining 4 (non-functional) [Gene - HGNC]
IGLJ5:immunoglobulin lambda joining 5 (non-functional) [Gene - HGNC]
IGLJ6:immunoglobulin lambda joining 6 [Gene - HGNC]
IGLJ7:immunoglobulin lambda joining 7 [Gene - HGNC]
IGLL1:immunoglobulin lambda like polypeptide 1 [Gene - OMIM - HGNC]
IGLL5:immunoglobulin lambda like polypeptide 5 [Gene - HGNC]
IGL:immunoglobulin lambda locus [Gene - HGNC]
IGLV1-36:immunoglobulin lambda variable 1-36 [Gene - HGNC]
IGLV1-40:immunoglobulin lambda variable 1-40 [Gene - HGNC]
IGLV1-44:immunoglobulin lambda variable 1-44 [Gene - HGNC]
IGLV1-47:immunoglobulin lambda variable 1-47 [Gene - HGNC]
IGLV1-50:immunoglobulin lambda variable 1-50 (non-functional) [Gene - HGNC]
IGLV1-51:immunoglobulin lambda variable 1-51 [Gene - HGNC]
IGLV10-54:immunoglobulin lambda variable 10-54 [Gene - HGNC]
IGLV11-55:immunoglobulin lambda variable 11-55 (non-functional) [Gene - HGNC]
IGLV2-11:immunoglobulin lambda variable 2-11 [Gene - HGNC]
IGLV2-14:immunoglobulin lambda variable 2-14 [Gene - HGNC]
IGLV2-18:immunoglobulin lambda variable 2-18 [Gene - HGNC]
IGLV2-23:immunoglobulin lambda variable 2-23 [Gene - HGNC]
IGLV2-33:immunoglobulin lambda variable 2-33 (non-functional) [Gene - HGNC]
IGLV2-8:immunoglobulin lambda variable 2-8 [Gene - HGNC]
IGLV3-10:immunoglobulin lambda variable 3-10 [Gene - HGNC]
IGLV3-12:immunoglobulin lambda variable 3-12 [Gene - HGNC]
IGLV3-16:immunoglobulin lambda variable 3-16 [Gene - HGNC]
IGLV3-19:immunoglobulin lambda variable 3-19 [Gene - HGNC]
IGLV3-1:immunoglobulin lambda variable 3-1 [Gene - HGNC]
IGLV3-21:immunoglobulin lambda variable 3-21 [Gene - HGNC]
IGLV3-22:immunoglobulin lambda variable 3-22 [Gene - HGNC]
IGLV3-25:immunoglobulin lambda variable 3-25 [Gene - HGNC]
IGLV3-27:immunoglobulin lambda variable 3-27 [Gene - HGNC]
IGLV3-32:immunoglobulin lambda variable 3-32 (non-functional) [Gene - HGNC]
IGLV3-9:immunoglobulin lambda variable 3-9 [Gene - HGNC]
IGLV4-3:immunoglobulin lambda variable 4-3 [Gene - HGNC]
IGLV4-60:immunoglobulin lambda variable 4-60 [Gene - HGNC]
IGLV4-69:immunoglobulin lambda variable 4-69 [Gene - HGNC]
IGLV5-37:immunoglobulin lambda variable 5-37 [Gene - HGNC]
IGLV5-45:immunoglobulin lambda variable 5-45 [Gene - HGNC]
IGLV5-48:immunoglobulin lambda variable 5-48 (non-functional) [Gene - HGNC]
IGLV5-52:immunoglobulin lambda variable 5-52 [Gene - HGNC]
IGLV6-57:immunoglobulin lambda variable 6-57 [Gene - HGNC]
IGLV7-43:immunoglobulin lambda variable 7-43 [Gene - HGNC]
IGLV7-46:immunoglobulin lambda variable 7-46 [Gene - HGNC]
IGLV8-61:immunoglobulin lambda variable 8-61 [Gene - HGNC]
IGLV9-49:immunoglobulin lambda variable 9-49 [Gene - HGNC]
INPP5J:inositol polyphosphate-5-phosphatase J [Gene - OMIM - HGNC]
KLHL22:kelch like family member 22 [Gene - OMIM - HGNC]
KREMEN1:kringle containing transmembrane protein 1 [Gene - OMIM - HGNC]
LRRC74B:leucine rich repeat containing 74B [Gene - HGNC]
LRRC75B:leucine rich repeat containing 75B [Gene - HGNC]
LZTR1:leucine zipper like post translational regulator 1 [Gene - OMIM - HGNC]
LINC01311:long intergenic non-protein coding RNA 1311 [Gene - HGNC]
LINC01422:long intergenic non-protein coding RNA 1422 [Gene - HGNC]
LINC01521:long intergenic non-protein coding RNA 1521 [Gene - HGNC]
LINC01637:long intergenic non-protein coding RNA 1637 [Gene - HGNC]
LINC01638:long intergenic non-protein coding RNA 1638 [Gene - HGNC]
LINC01651:long intergenic non-protein coding RNA 1651 [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]
LINC02559:long intergenic non-protein coding RNA 2559 [Gene - HGNC]
LINC02891:long intergenic non-protein coding RNA 2891 [Gene - HGNC]
LINC00895:long intergenic non-protein coding RNA 895 [Gene - HGNC]
LINC00896:long intergenic non-protein coding RNA 896 [Gene - HGNC]
MIF:macrophage migration inhibitory factor [Gene - OMIM - HGNC]
MMP11:matrix metallopeptidase 11 [Gene - OMIM - HGNC]
MED15:mediator complex subunit 15 [Gene - OMIM - HGNC]
MIR1286:microRNA 1286 [Gene - HGNC]
MIR1306:microRNA 1306 [Gene - HGNC]
MIR130B:microRNA 130b [Gene - OMIM - HGNC]
MIR185:microRNA 185 [Gene - OMIM - HGNC]
MIR301B:microRNA 301b [Gene - HGNC]
MIR3199-1:microRNA 3199-1 [Gene - HGNC]
MIR3199-2:microRNA 3199-2 [Gene - HGNC]
MIR3200:microRNA 3200 [Gene - HGNC]
MIR3618:microRNA 3618 [Gene - HGNC]
MIR3928:microRNA 3928 [Gene - HGNC]
MIR4761:microRNA 4761 [Gene - HGNC]
MIR548J:microRNA 548j [Gene - HGNC]
MIR5571:microRNA 5571 [Gene - HGNC]
MIR5739:microRNA 5739 [Gene - HGNC]
MIR649:microRNA 649 [Gene - HGNC]
MIR650:microRNA 650 [Gene - OMIM - HGNC]
MIR6816:microRNA 6816 [Gene - HGNC]
MIR6817:microRNA 6817 [Gene - HGNC]
MIR6818:microRNA 6818 [Gene - HGNC]
MIR7109:microRNA 7109 [Gene - HGNC]
MTFP1:mitochondrial fission process 1 [Gene - OMIM - HGNC]
MRPL40:mitochondrial ribosomal protein L40 [Gene - OMIM - HGNC]
MAPK1:mitogen-activated protein kinase 1 [Gene - OMIM - HGNC]
MIAT:myocardial infarction associated transcript [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]
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]
PPIL2:peptidylprolyl isomerase like 2 [Gene - OMIM - HGNC]
PES1:pescadillo ribosomal biogenesis factor 1 [Gene - OMIM - HGNC]
PI4KA:phosphatidylinositol 4-kinase alpha [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]
PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]
PRR14L:proline rich 14 like [Gene - HGNC]
PCAT14:prostate cancer associated transcript 14 [Gene - HGNC]
PPM1F:protein phosphatase, Mg2+/Mn2+ dependent 1F [Gene - OMIM - HGNC]
P2RX6:purinergic receptor P2X 6 [Gene - OMIM - HGNC]
RSPH14:radial spoke head 14 homolog [Gene - OMIM - HGNC]
RGL4:ral guanine nucleotide dissociation stimulator like 4 [Gene - OMIM - HGNC]
RFPL1:ret finger protein like 1 [Gene - OMIM - HGNC]
RTN4R:reticulon 4 receptor [Gene - OMIM - HGNC]
RTL10:retrotransposon Gag like 10 [Gene - HGNC]
RHBDD3:rhomboid domain containing 3 [Gene - HGNC]
RNF185:ring finger protein 185 [Gene - OMIM - HGNC]
RNF215:ring finger protein 215 [Gene - HGNC]
SCARF2:scavenger receptor class F member 2 [Gene - OMIM - HGNC]
SEZ6L:seizure related 6 homolog like [Gene - OMIM - HGNC]
SELENOM:selenoprotein M [Gene - OMIM - HGNC]
SEPTIN5:septin 5 [Gene - OMIM - HGNC]
SERPIND1:serpin family D member 1 [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]
SNORA77B:small nucleolar RNA, H/ACA box 77B [Gene - HGNC]
SMTN:smoothelin [Gene - OMIM - HGNC]
SLC2A11:solute carrier family 2 member 11 [Gene - OMIM - HGNC]
SLC25A1:solute carrier family 25 member 1 [Gene - OMIM - HGNC]
SLC35E4:solute carrier family 35 member E4 [Gene - HGNC]
SLC7A4:solute carrier family 7 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]
SDF2L1:stromal cell derived factor 2 like 1 [Gene - OMIM - HGNC]
SUSD2:sushi domain containing 2 [Gene - OMIM - HGNC]
SNAP29:synaptosome associated protein 29 [Gene - OMIM - HGNC]
TRMT2A:tRNA methyltransferase 2 homolog A [Gene - OMIM - HGNC]
TUG1:taurine up-regulated 1 [Gene - OMIM - HGNC]
TSSK2:testis specific serine kinase 2 [Gene - OMIM - HGNC]
TTC28:tetratricopeptide repeat domain 28 [Gene - OMIM - HGNC]
TXNRD2:thioredoxin reductase 2 [Gene - OMIM - HGNC]
TCN2:transcobalamin 2 [Gene - OMIM - HGNC]
TMEM191B:transmembrane protein 191B [Gene - HGNC]
TMEM191C:transmembrane protein 191C [Gene - HGNC]
TANGO2:transport and golgi organization 2 homolog [Gene - OMIM - HGNC]
TFIP11:tuftelin interacting protein 11 [Gene - OMIM - HGNC]
TPST2:tyrosylprotein sulfotransferase 2 [Gene - OMIM - HGNC]
UQCR10:ubiquinol-cytochrome c reductase, complex III subunit X [Gene - OMIM - HGNC]
UBE2L3:ubiquitin conjugating enzyme E2 L3 [Gene - OMIM - HGNC]
UFD1:ubiquitin recognition factor in ER associated degradation 1 [Gene - OMIM - HGNC]
USP41:ubiquitin specific peptidase 41 [Gene - 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]
LOC122455341:uncharacterized LOC122455341 [Gene]
LOC284898:uncharacterized LOC284898 [Gene]
LL22NC03-63E9.3:uncharacterized LOC648691 [Gene]
YPEL1:yippee like 1 [Gene - OMIM - HGNC]
ZNRF3:zinc and ring finger 3 [Gene - OMIM - HGNC]
ZDHHC8:zinc finger DHHC-type palmitoyltransferase 8 [Gene - OMIM - HGNC]
ZMAT5:zinc finger matrin-type 5 [Gene - OMIM - HGNC]
ZNF280A:zinc finger protein 280A [Gene - HGNC]
ZNF280B:zinc finger protein 280B [Gene - HGNC]
ZNF70:zinc finger protein 70 [Gene - OMIM - HGNC]
ZNF74:zinc finger protein 74 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

22q11.21-12.3

Genomic location:

Preferred name:

GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3

HGVS:

NC_000022.11:g.(?_18178957)_(31821193_?)dup
NC_000022.10:g.(?_18661724)_(32217179_?)dup
NC_000022.9:g.(?_17041724)_(30547179_?)dup

Links:

dbVar: nssv578922; dbVar: nsv529371

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
SCV000078101	ISCA site 4 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	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

SCV000078101

ISCA site 4

See additional submitters

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 ISCA site 4, SCV000078101.5

#	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