GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 18, 2014
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:: RCV000143752.6

Allele description [Variation Report for GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3]

GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3

Genes:

OGFOD1:2-oxoglutarate and iron dependent oxygenase domain containing 1 [Gene - OMIM - HGNC]
ACD:ACD shelterin complex subunit and telomerase recruitment factor [Gene - OMIM - HGNC]
ARL2BP:ADP ribosylation factor like GTPase 2 binding protein [Gene - OMIM - HGNC]
AKTIP:AKT interacting protein [Gene - OMIM - HGNC]
LOC130058974:ATAC-STARR-seq lymphoblastoid active region 10807 [Gene]
LOC130058986:ATAC-STARR-seq lymphoblastoid active region 10808 [Gene]
LOC130058987:ATAC-STARR-seq lymphoblastoid active region 10809 [Gene]
LOC130058988:ATAC-STARR-seq lymphoblastoid active region 10810 [Gene]
LOC130058990:ATAC-STARR-seq lymphoblastoid active region 10811 [Gene]
LOC130058991:ATAC-STARR-seq lymphoblastoid active region 10812 [Gene]
LOC130058992:ATAC-STARR-seq lymphoblastoid active region 10814 [Gene]
LOC130058993:ATAC-STARR-seq lymphoblastoid active region 10815 [Gene]
LOC130058994:ATAC-STARR-seq lymphoblastoid active region 10816 [Gene]
LOC130058997:ATAC-STARR-seq lymphoblastoid active region 10817 [Gene]
LOC130059001:ATAC-STARR-seq lymphoblastoid active region 10818 [Gene]
LOC130059004:ATAC-STARR-seq lymphoblastoid active region 10819 [Gene]
LOC130059005:ATAC-STARR-seq lymphoblastoid active region 10820 [Gene]
LOC130059006:ATAC-STARR-seq lymphoblastoid active region 10821 [Gene]
LOC130059008:ATAC-STARR-seq lymphoblastoid active region 10822 [Gene]
LOC130059009:ATAC-STARR-seq lymphoblastoid active region 10823 [Gene]
LOC130059010:ATAC-STARR-seq lymphoblastoid active region 10824 [Gene]
LOC130059011:ATAC-STARR-seq lymphoblastoid active region 10825 [Gene]
LOC130059013:ATAC-STARR-seq lymphoblastoid active region 10826 [Gene]
LOC130059014:ATAC-STARR-seq lymphoblastoid active region 10827 [Gene]
LOC130059016:ATAC-STARR-seq lymphoblastoid active region 10828 [Gene]
LOC130059018:ATAC-STARR-seq lymphoblastoid active region 10831 [Gene]
LOC130059019:ATAC-STARR-seq lymphoblastoid active region 10832 [Gene]
LOC130059020:ATAC-STARR-seq lymphoblastoid active region 10833 [Gene]
LOC130059021:ATAC-STARR-seq lymphoblastoid active region 10834 [Gene]
LOC130059022:ATAC-STARR-seq lymphoblastoid active region 10835 [Gene]
LOC130059023:ATAC-STARR-seq lymphoblastoid active region 10836 [Gene]
LOC130059024:ATAC-STARR-seq lymphoblastoid active region 10840 [Gene]
LOC130059025:ATAC-STARR-seq lymphoblastoid active region 10841 [Gene]
LOC130059029:ATAC-STARR-seq lymphoblastoid active region 10842 [Gene]
LOC130059030:ATAC-STARR-seq lymphoblastoid active region 10843 [Gene]
LOC130059032:ATAC-STARR-seq lymphoblastoid active region 10844 [Gene]
LOC130059033:ATAC-STARR-seq lymphoblastoid active region 10845 [Gene]
LOC130059034:ATAC-STARR-seq lymphoblastoid active region 10846 [Gene]
LOC130059040:ATAC-STARR-seq lymphoblastoid active region 10848 [Gene]
LOC130059042:ATAC-STARR-seq lymphoblastoid active region 10849 [Gene]
LOC130059043:ATAC-STARR-seq lymphoblastoid active region 10850 [Gene]
LOC130059046:ATAC-STARR-seq lymphoblastoid active region 10851 [Gene]
LOC130059048:ATAC-STARR-seq lymphoblastoid active region 10852 [Gene]
LOC130059051:ATAC-STARR-seq lymphoblastoid active region 10853 [Gene]
LOC130059052:ATAC-STARR-seq lymphoblastoid active region 10854 [Gene]
LOC130059053:ATAC-STARR-seq lymphoblastoid active region 10855 [Gene]
LOC130059054:ATAC-STARR-seq lymphoblastoid active region 10856 [Gene]
LOC130059055:ATAC-STARR-seq lymphoblastoid active region 10857 [Gene]
LOC130059056:ATAC-STARR-seq lymphoblastoid active region 10862 [Gene]
LOC130059060:ATAC-STARR-seq lymphoblastoid active region 10863 [Gene]
LOC130059061:ATAC-STARR-seq lymphoblastoid active region 10864 [Gene]
LOC130059062:ATAC-STARR-seq lymphoblastoid active region 10865 [Gene]
LOC130059063:ATAC-STARR-seq lymphoblastoid active region 10866 [Gene]
LOC130059064:ATAC-STARR-seq lymphoblastoid active region 10867 [Gene]
LOC130059065:ATAC-STARR-seq lymphoblastoid active region 10869 [Gene]
LOC130059066:ATAC-STARR-seq lymphoblastoid active region 10870 [Gene]
LOC130059067:ATAC-STARR-seq lymphoblastoid active region 10871 [Gene]
LOC130059068:ATAC-STARR-seq lymphoblastoid active region 10872 [Gene]
LOC130059069:ATAC-STARR-seq lymphoblastoid active region 10873 [Gene]
LOC130059070:ATAC-STARR-seq lymphoblastoid active region 10874 [Gene]
LOC130059071:ATAC-STARR-seq lymphoblastoid active region 10875 [Gene]
LOC130059072:ATAC-STARR-seq lymphoblastoid active region 10876 [Gene]
LOC130059073:ATAC-STARR-seq lymphoblastoid active region 10877 [Gene]
LOC130059074:ATAC-STARR-seq lymphoblastoid active region 10878 [Gene]
LOC130059075:ATAC-STARR-seq lymphoblastoid active region 10879 [Gene]
LOC130059076:ATAC-STARR-seq lymphoblastoid active region 10880 [Gene]
LOC130059077:ATAC-STARR-seq lymphoblastoid active region 10881 [Gene]
LOC130059082:ATAC-STARR-seq lymphoblastoid active region 10882 [Gene]
LOC130059083:ATAC-STARR-seq lymphoblastoid active region 10883 [Gene]
LOC130059085:ATAC-STARR-seq lymphoblastoid active region 10884 [Gene]
LOC130059087:ATAC-STARR-seq lymphoblastoid active region 10885 [Gene]
LOC130059090:ATAC-STARR-seq lymphoblastoid active region 10886 [Gene]
LOC130059091:ATAC-STARR-seq lymphoblastoid active region 10887 [Gene]
LOC130059093:ATAC-STARR-seq lymphoblastoid active region 10888 [Gene]
LOC130059095:ATAC-STARR-seq lymphoblastoid active region 10889 [Gene]
LOC130059097:ATAC-STARR-seq lymphoblastoid active region 10890 [Gene]
LOC130059098:ATAC-STARR-seq lymphoblastoid active region 10891 [Gene]
LOC130059099:ATAC-STARR-seq lymphoblastoid active region 10892 [Gene]
LOC130059100:ATAC-STARR-seq lymphoblastoid active region 10894 [Gene]
LOC130059101:ATAC-STARR-seq lymphoblastoid active region 10895 [Gene]
LOC130059102:ATAC-STARR-seq lymphoblastoid active region 10896 [Gene]
LOC130059103:ATAC-STARR-seq lymphoblastoid active region 10897 [Gene]
LOC130059105:ATAC-STARR-seq lymphoblastoid active region 10898 [Gene]
LOC130059106:ATAC-STARR-seq lymphoblastoid active region 10899 [Gene]
LOC130059107:ATAC-STARR-seq lymphoblastoid active region 10900 [Gene]
LOC130059109:ATAC-STARR-seq lymphoblastoid active region 10901 [Gene]
LOC130059112:ATAC-STARR-seq lymphoblastoid active region 10902 [Gene]
LOC130059113:ATAC-STARR-seq lymphoblastoid active region 10903 [Gene]
LOC130059114:ATAC-STARR-seq lymphoblastoid active region 10904 [Gene]
LOC130059115:ATAC-STARR-seq lymphoblastoid active region 10905 [Gene]
LOC130059116:ATAC-STARR-seq lymphoblastoid active region 10906 [Gene]
LOC130059117:ATAC-STARR-seq lymphoblastoid active region 10907 [Gene]
LOC130059118:ATAC-STARR-seq lymphoblastoid active region 10908 [Gene]
LOC130059119:ATAC-STARR-seq lymphoblastoid active region 10909 [Gene]
LOC130059121:ATAC-STARR-seq lymphoblastoid active region 10912 [Gene]
LOC130059122:ATAC-STARR-seq lymphoblastoid active region 10914 [Gene]
LOC130059123:ATAC-STARR-seq lymphoblastoid active region 10915 [Gene]
LOC130059124:ATAC-STARR-seq lymphoblastoid active region 10916 [Gene]
LOC130059125:ATAC-STARR-seq lymphoblastoid active region 10917 [Gene]
LOC130059127:ATAC-STARR-seq lymphoblastoid active region 10918 [Gene]
LOC130059128:ATAC-STARR-seq lymphoblastoid active region 10919 [Gene]
LOC130059131:ATAC-STARR-seq lymphoblastoid active region 10920 [Gene]
LOC130059132:ATAC-STARR-seq lymphoblastoid active region 10921 [Gene]
LOC130059137:ATAC-STARR-seq lymphoblastoid active region 10923 [Gene]
LOC130059138:ATAC-STARR-seq lymphoblastoid active region 10924 [Gene]
LOC130059141:ATAC-STARR-seq lymphoblastoid active region 10926 [Gene]
LOC130059144:ATAC-STARR-seq lymphoblastoid active region 10929 [Gene]
LOC130059146:ATAC-STARR-seq lymphoblastoid active region 10930 [Gene]
LOC130059147:ATAC-STARR-seq lymphoblastoid active region 10933 [Gene]
LOC130059150:ATAC-STARR-seq lymphoblastoid active region 10936 [Gene]
LOC130059153:ATAC-STARR-seq lymphoblastoid active region 10938 [Gene]
LOC130059154:ATAC-STARR-seq lymphoblastoid active region 10939 [Gene]
LOC130059155:ATAC-STARR-seq lymphoblastoid active region 10940 [Gene]
LOC130059157:ATAC-STARR-seq lymphoblastoid active region 10941 [Gene]
LOC130059163:ATAC-STARR-seq lymphoblastoid active region 10942 [Gene]
LOC130059164:ATAC-STARR-seq lymphoblastoid active region 10943 [Gene]
LOC130059167:ATAC-STARR-seq lymphoblastoid active region 10945 [Gene]
LOC130059168:ATAC-STARR-seq lymphoblastoid active region 10946 [Gene]
LOC130059170:ATAC-STARR-seq lymphoblastoid active region 10947 [Gene]
LOC130059171:ATAC-STARR-seq lymphoblastoid active region 10948 [Gene]
LOC130059173:ATAC-STARR-seq lymphoblastoid active region 10951 [Gene]
LOC130059180:ATAC-STARR-seq lymphoblastoid active region 10952 [Gene]
LOC130059183:ATAC-STARR-seq lymphoblastoid active region 10954 [Gene]
LOC130059184:ATAC-STARR-seq lymphoblastoid active region 10955 [Gene]
LOC130059186:ATAC-STARR-seq lymphoblastoid active region 10956 [Gene]
LOC130059187:ATAC-STARR-seq lymphoblastoid active region 10958 [Gene]
LOC130059189:ATAC-STARR-seq lymphoblastoid active region 10959 [Gene]
LOC130059191:ATAC-STARR-seq lymphoblastoid active region 10960 [Gene]
LOC130059192:ATAC-STARR-seq lymphoblastoid active region 10961 [Gene]
LOC130059193:ATAC-STARR-seq lymphoblastoid active region 10962 [Gene]
LOC130059199:ATAC-STARR-seq lymphoblastoid active region 10963 [Gene]
LOC130059200:ATAC-STARR-seq lymphoblastoid active region 10964 [Gene]
LOC130059204:ATAC-STARR-seq lymphoblastoid active region 10965 [Gene]
LOC130059205:ATAC-STARR-seq lymphoblastoid active region 10966 [Gene]
LOC130059207:ATAC-STARR-seq lymphoblastoid active region 10967 [Gene]
LOC130059208:ATAC-STARR-seq lymphoblastoid active region 10968 [Gene]
LOC130059210:ATAC-STARR-seq lymphoblastoid active region 10969 [Gene]
LOC130059211:ATAC-STARR-seq lymphoblastoid active region 10970 [Gene]
LOC130059212:ATAC-STARR-seq lymphoblastoid active region 10971 [Gene]
LOC130059213:ATAC-STARR-seq lymphoblastoid active region 10972 [Gene]
LOC130059214:ATAC-STARR-seq lymphoblastoid active region 10973 [Gene]
LOC130059219:ATAC-STARR-seq lymphoblastoid active region 10975 [Gene]
LOC130059221:ATAC-STARR-seq lymphoblastoid active region 10977 [Gene]
LOC130059222:ATAC-STARR-seq lymphoblastoid active region 10978 [Gene]
LOC130059230:ATAC-STARR-seq lymphoblastoid active region 10979 [Gene]
LOC130059231:ATAC-STARR-seq lymphoblastoid active region 10980 [Gene]
LOC130059232:ATAC-STARR-seq lymphoblastoid active region 10981 [Gene]
LOC130059235:ATAC-STARR-seq lymphoblastoid active region 10982 [Gene]
LOC130059236:ATAC-STARR-seq lymphoblastoid active region 10983 [Gene]
LOC130059237:ATAC-STARR-seq lymphoblastoid active region 10984 [Gene]
LOC130059239:ATAC-STARR-seq lymphoblastoid active region 10986 [Gene]
LOC130059240:ATAC-STARR-seq lymphoblastoid active region 10987 [Gene]
LOC130059241:ATAC-STARR-seq lymphoblastoid active region 10988 [Gene]
LOC130059243:ATAC-STARR-seq lymphoblastoid active region 10990 [Gene]
LOC130059246:ATAC-STARR-seq lymphoblastoid active region 10991 [Gene]
LOC130059247:ATAC-STARR-seq lymphoblastoid active region 10992 [Gene]
LOC130059250:ATAC-STARR-seq lymphoblastoid active region 10993 [Gene]
LOC130059251:ATAC-STARR-seq lymphoblastoid active region 10994 [Gene]
LOC130059252:ATAC-STARR-seq lymphoblastoid active region 10995 [Gene]
LOC130059253:ATAC-STARR-seq lymphoblastoid active region 10996 [Gene]
LOC130059254:ATAC-STARR-seq lymphoblastoid active region 10998 [Gene]
LOC130059259:ATAC-STARR-seq lymphoblastoid active region 10999 [Gene]
LOC130059260:ATAC-STARR-seq lymphoblastoid active region 11000 [Gene]
LOC130059261:ATAC-STARR-seq lymphoblastoid active region 11001 [Gene]
LOC130059263:ATAC-STARR-seq lymphoblastoid active region 11003 [Gene]
LOC130059264:ATAC-STARR-seq lymphoblastoid active region 11004 [Gene]
LOC130059265:ATAC-STARR-seq lymphoblastoid active region 11005 [Gene]
LOC130059268:ATAC-STARR-seq lymphoblastoid active region 11006 [Gene]
LOC130059270:ATAC-STARR-seq lymphoblastoid active region 11007 [Gene]
LOC130059271:ATAC-STARR-seq lymphoblastoid active region 11008 [Gene]
LOC130059275:ATAC-STARR-seq lymphoblastoid active region 11009 [Gene]
LOC130059276:ATAC-STARR-seq lymphoblastoid active region 11010 [Gene]
LOC130059277:ATAC-STARR-seq lymphoblastoid active region 11011 [Gene]
LOC130059278:ATAC-STARR-seq lymphoblastoid active region 11012 [Gene]
LOC130059279:ATAC-STARR-seq lymphoblastoid active region 11013 [Gene]
LOC130059280:ATAC-STARR-seq lymphoblastoid active region 11014 [Gene]
LOC130059281:ATAC-STARR-seq lymphoblastoid active region 11015 [Gene]
LOC130058975:ATAC-STARR-seq lymphoblastoid silent region 7462 [Gene]
LOC130058976:ATAC-STARR-seq lymphoblastoid silent region 7463 [Gene]
LOC130058977:ATAC-STARR-seq lymphoblastoid silent region 7464 [Gene]
LOC130058978:ATAC-STARR-seq lymphoblastoid silent region 7465 [Gene]
LOC130058979:ATAC-STARR-seq lymphoblastoid silent region 7468 [Gene]
LOC130058980:ATAC-STARR-seq lymphoblastoid silent region 7469 [Gene]
LOC130058981:ATAC-STARR-seq lymphoblastoid silent region 7470 [Gene]
LOC130058982:ATAC-STARR-seq lymphoblastoid silent region 7471 [Gene]
LOC130058983:ATAC-STARR-seq lymphoblastoid silent region 7475 [Gene]
LOC130058984:ATAC-STARR-seq lymphoblastoid silent region 7476 [Gene]
LOC130058985:ATAC-STARR-seq lymphoblastoid silent region 7477 [Gene]
LOC130058989:ATAC-STARR-seq lymphoblastoid silent region 7478 [Gene]
LOC130058995:ATAC-STARR-seq lymphoblastoid silent region 7481 [Gene]
LOC130058996:ATAC-STARR-seq lymphoblastoid silent region 7482 [Gene]
LOC130058998:ATAC-STARR-seq lymphoblastoid silent region 7483 [Gene]
LOC130058999:ATAC-STARR-seq lymphoblastoid silent region 7484 [Gene]
LOC130059000:ATAC-STARR-seq lymphoblastoid silent region 7485 [Gene]
LOC130059002:ATAC-STARR-seq lymphoblastoid silent region 7486 [Gene]
LOC130059003:ATAC-STARR-seq lymphoblastoid silent region 7487 [Gene]
LOC130059007:ATAC-STARR-seq lymphoblastoid silent region 7489 [Gene]
LOC130059012:ATAC-STARR-seq lymphoblastoid silent region 7490 [Gene]
LOC130059015:ATAC-STARR-seq lymphoblastoid silent region 7491 [Gene]
LOC130059017:ATAC-STARR-seq lymphoblastoid silent region 7492 [Gene]
LOC130059026:ATAC-STARR-seq lymphoblastoid silent region 7494 [Gene]
LOC130059027:ATAC-STARR-seq lymphoblastoid silent region 7495 [Gene]
LOC130059028:ATAC-STARR-seq lymphoblastoid silent region 7496 [Gene]
LOC130059031:ATAC-STARR-seq lymphoblastoid silent region 7500 [Gene]
LOC130059035:ATAC-STARR-seq lymphoblastoid silent region 7502 [Gene]
LOC130059036:ATAC-STARR-seq lymphoblastoid silent region 7503 [Gene]
LOC130059037:ATAC-STARR-seq lymphoblastoid silent region 7504 [Gene]
LOC130059038:ATAC-STARR-seq lymphoblastoid silent region 7505 [Gene]
LOC130059039:ATAC-STARR-seq lymphoblastoid silent region 7506 [Gene]
LOC130059041:ATAC-STARR-seq lymphoblastoid silent region 7507 [Gene]
LOC130059044:ATAC-STARR-seq lymphoblastoid silent region 7508 [Gene]
LOC130059045:ATAC-STARR-seq lymphoblastoid silent region 7509 [Gene]
LOC130059047:ATAC-STARR-seq lymphoblastoid silent region 7510 [Gene]
LOC130059049:ATAC-STARR-seq lymphoblastoid silent region 7511 [Gene]
LOC130059050:ATAC-STARR-seq lymphoblastoid silent region 7514 [Gene]
LOC130059057:ATAC-STARR-seq lymphoblastoid silent region 7516 [Gene]
LOC130059058:ATAC-STARR-seq lymphoblastoid silent region 7517 [Gene]
LOC130059059:ATAC-STARR-seq lymphoblastoid silent region 7518 [Gene]
LOC130059078:ATAC-STARR-seq lymphoblastoid silent region 7519 [Gene]
LOC130059079:ATAC-STARR-seq lymphoblastoid silent region 7520 [Gene]
LOC130059080:ATAC-STARR-seq lymphoblastoid silent region 7521 [Gene]
LOC130059081:ATAC-STARR-seq lymphoblastoid silent region 7522 [Gene]
LOC130059084:ATAC-STARR-seq lymphoblastoid silent region 7523 [Gene]
LOC130059086:ATAC-STARR-seq lymphoblastoid silent region 7524 [Gene]
LOC130059088:ATAC-STARR-seq lymphoblastoid silent region 7525 [Gene]
LOC130059089:ATAC-STARR-seq lymphoblastoid silent region 7526 [Gene]
LOC130059092:ATAC-STARR-seq lymphoblastoid silent region 7527 [Gene]
LOC130059094:ATAC-STARR-seq lymphoblastoid silent region 7528 [Gene]
LOC130059096:ATAC-STARR-seq lymphoblastoid silent region 7529 [Gene]
LOC130059104:ATAC-STARR-seq lymphoblastoid silent region 7531 [Gene]
LOC130059108:ATAC-STARR-seq lymphoblastoid silent region 7532 [Gene]
LOC130059110:ATAC-STARR-seq lymphoblastoid silent region 7533 [Gene]
LOC130059111:ATAC-STARR-seq lymphoblastoid silent region 7534 [Gene]
LOC130059120:ATAC-STARR-seq lymphoblastoid silent region 7536 [Gene]
LOC130059126:ATAC-STARR-seq lymphoblastoid silent region 7538 [Gene]
LOC130059129:ATAC-STARR-seq lymphoblastoid silent region 7539 [Gene]
LOC130059130:ATAC-STARR-seq lymphoblastoid silent region 7540 [Gene]
LOC130059133:ATAC-STARR-seq lymphoblastoid silent region 7543 [Gene]
LOC130059134:ATAC-STARR-seq lymphoblastoid silent region 7545 [Gene]
LOC130059135:ATAC-STARR-seq lymphoblastoid silent region 7546 [Gene]
LOC130059136:ATAC-STARR-seq lymphoblastoid silent region 7547 [Gene]
LOC130059139:ATAC-STARR-seq lymphoblastoid silent region 7548 [Gene]
LOC130059140:ATAC-STARR-seq lymphoblastoid silent region 7549 [Gene]
LOC130059142:ATAC-STARR-seq lymphoblastoid silent region 7550 [Gene]
LOC130059143:ATAC-STARR-seq lymphoblastoid silent region 7551 [Gene]
LOC130059145:ATAC-STARR-seq lymphoblastoid silent region 7554 [Gene]
LOC130059148:ATAC-STARR-seq lymphoblastoid silent region 7555 [Gene]
LOC130059149:ATAC-STARR-seq lymphoblastoid silent region 7556 [Gene]
LOC130059151:ATAC-STARR-seq lymphoblastoid silent region 7557 [Gene]
LOC130059152:ATAC-STARR-seq lymphoblastoid silent region 7558 [Gene]
LOC130059156:ATAC-STARR-seq lymphoblastoid silent region 7560 [Gene]
LOC130059158:ATAC-STARR-seq lymphoblastoid silent region 7561 [Gene]
LOC130059159:ATAC-STARR-seq lymphoblastoid silent region 7562 [Gene]
LOC130059160:ATAC-STARR-seq lymphoblastoid silent region 7565 [Gene]
LOC130059161:ATAC-STARR-seq lymphoblastoid silent region 7566 [Gene]
LOC130059162:ATAC-STARR-seq lymphoblastoid silent region 7568 [Gene]
LOC130059165:ATAC-STARR-seq lymphoblastoid silent region 7571 [Gene]
LOC130059166:ATAC-STARR-seq lymphoblastoid silent region 7572 [Gene]
LOC130059169:ATAC-STARR-seq lymphoblastoid silent region 7573 [Gene]
LOC130059172:ATAC-STARR-seq lymphoblastoid silent region 7575 [Gene]
LOC130059174:ATAC-STARR-seq lymphoblastoid silent region 7576 [Gene]
LOC130059175:ATAC-STARR-seq lymphoblastoid silent region 7577 [Gene]
LOC130059176:ATAC-STARR-seq lymphoblastoid silent region 7578 [Gene]
LOC130059177:ATAC-STARR-seq lymphoblastoid silent region 7580 [Gene]
LOC130059178:ATAC-STARR-seq lymphoblastoid silent region 7581 [Gene]
LOC130059179:ATAC-STARR-seq lymphoblastoid silent region 7582 [Gene]
LOC130059181:ATAC-STARR-seq lymphoblastoid silent region 7584 [Gene]
LOC130059182:ATAC-STARR-seq lymphoblastoid silent region 7585 [Gene]
LOC130059185:ATAC-STARR-seq lymphoblastoid silent region 7588 [Gene]
LOC130059188:ATAC-STARR-seq lymphoblastoid silent region 7593 [Gene]
LOC130059190:ATAC-STARR-seq lymphoblastoid silent region 7594 [Gene]
LOC130059194:ATAC-STARR-seq lymphoblastoid silent region 7595 [Gene]
LOC130059195:ATAC-STARR-seq lymphoblastoid silent region 7596 [Gene]
LOC130059196:ATAC-STARR-seq lymphoblastoid silent region 7597 [Gene]
LOC130059197:ATAC-STARR-seq lymphoblastoid silent region 7598 [Gene]
LOC130059198:ATAC-STARR-seq lymphoblastoid silent region 7600 [Gene]
LOC130059201:ATAC-STARR-seq lymphoblastoid silent region 7602 [Gene]
LOC130059202:ATAC-STARR-seq lymphoblastoid silent region 7604 [Gene]
LOC130059203:ATAC-STARR-seq lymphoblastoid silent region 7605 [Gene]
LOC130059206:ATAC-STARR-seq lymphoblastoid silent region 7606 [Gene]
LOC130059209:ATAC-STARR-seq lymphoblastoid silent region 7607 [Gene]
LOC130059215:ATAC-STARR-seq lymphoblastoid silent region 7608 [Gene]
LOC130059216:ATAC-STARR-seq lymphoblastoid silent region 7609 [Gene]
LOC130059217:ATAC-STARR-seq lymphoblastoid silent region 7610 [Gene]
LOC130059218:ATAC-STARR-seq lymphoblastoid silent region 7611 [Gene]
LOC130059220:ATAC-STARR-seq lymphoblastoid silent region 7613 [Gene]
LOC130059223:ATAC-STARR-seq lymphoblastoid silent region 7616 [Gene]
LOC130059224:ATAC-STARR-seq lymphoblastoid silent region 7617 [Gene]
LOC130059225:ATAC-STARR-seq lymphoblastoid silent region 7618 [Gene]
LOC130059226:ATAC-STARR-seq lymphoblastoid silent region 7619 [Gene]
LOC130059227:ATAC-STARR-seq lymphoblastoid silent region 7620 [Gene]
LOC130059228:ATAC-STARR-seq lymphoblastoid silent region 7621 [Gene]
LOC130059229:ATAC-STARR-seq lymphoblastoid silent region 7622 [Gene]
LOC130059233:ATAC-STARR-seq lymphoblastoid silent region 7623 [Gene]
LOC130059234:ATAC-STARR-seq lymphoblastoid silent region 7624 [Gene]
LOC130059238:ATAC-STARR-seq lymphoblastoid silent region 7626 [Gene]
LOC130059242:ATAC-STARR-seq lymphoblastoid silent region 7627 [Gene]
LOC130059244:ATAC-STARR-seq lymphoblastoid silent region 7628 [Gene]
LOC130059245:ATAC-STARR-seq lymphoblastoid silent region 7629 [Gene]
LOC130059248:ATAC-STARR-seq lymphoblastoid silent region 7631 [Gene]
LOC130059249:ATAC-STARR-seq lymphoblastoid silent region 7632 [Gene]
LOC130059255:ATAC-STARR-seq lymphoblastoid silent region 7633 [Gene]
LOC130059256:ATAC-STARR-seq lymphoblastoid silent region 7634 [Gene]
LOC130059257:ATAC-STARR-seq lymphoblastoid silent region 7635 [Gene]
LOC130059258:ATAC-STARR-seq lymphoblastoid silent region 7636 [Gene]
LOC130059262:ATAC-STARR-seq lymphoblastoid silent region 7637 [Gene]
LOC130059266:ATAC-STARR-seq lymphoblastoid silent region 7638 [Gene]
LOC130059267:ATAC-STARR-seq lymphoblastoid silent region 7639 [Gene]
LOC130059269:ATAC-STARR-seq lymphoblastoid silent region 7640 [Gene]
LOC130059272:ATAC-STARR-seq lymphoblastoid silent region 7641 [Gene]
LOC130059273:ATAC-STARR-seq lymphoblastoid silent region 7644 [Gene]
LOC130059274:ATAC-STARR-seq lymphoblastoid silent region 7645 [Gene]
ATP6V0D1-DT:ATP6V0D1 divergent transcript [Gene - HGNC]
ATP6V0D1:ATPase H+ transporting V0 subunit d1 [Gene - OMIM - HGNC]
BEAN1-AS1:BEAN1 antisense RNA 1 [Gene - HGNC]
LOC126862349:BRD4-independent group 4 enhancer GRCh37_chr16:52611160-52612359 [Gene]
LOC126862362:BRD4-independent group 4 enhancer GRCh37_chr16:57095254-57096453 [Gene]
LOC126862363:BRD4-independent group 4 enhancer GRCh37_chr16:58751959-58753158 [Gene]
LOC126862368:BRD4-independent group 4 enhancer GRCh37_chr16:64313604-64314803 [Gene]
LOC126862377:BRD4-independent group 4 enhancer GRCh37_chr16:67004920-67006119 [Gene]
LOC126862378:BRD4-independent group 4 enhancer GRCh37_chr16:67271286-67272485 [Gene]
BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]
CCL17:C-C motif chemokine ligand 17 [Gene - OMIM - HGNC]
CCL22:C-C motif chemokine ligand 22 [Gene - OMIM - HGNC]
CX3CL1:C-X3-C motif chemokine ligand 1 [Gene - OMIM - HGNC]
CTCF:CCCTC-binding factor [Gene - OMIM - HGNC]
CNOT1:CCR4-NOT transcription complex subunit 1 [Gene - OMIM - HGNC]
CDH8-AS1:CDH8 antisense RNA 1 [Gene - HGNC]
LOC126862343:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:50353005-50354204 [Gene]
LOC126862344:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:50430839-50432038 [Gene]
LOC126862345:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:51426797-51427996 [Gene]
LOC126862350:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:52662737-52663936 [Gene]
LOC126862351:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:52831610-52832809 [Gene]
LOC126862355:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:54965529-54966728 [Gene]
LOC126862357:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:55072974-55074173 [Gene]
LOC126862359:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:55813055-55814254 [Gene]
LOC126862361:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:56946332-56947531 [Gene]
LOC126862371:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:65691608-65692807 [Gene]
LOC126862374:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:66210191-66211390 [Gene]
LOC126862379:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:67717419-67718618 [Gene]
LOC126862380:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:67992978-67994177 [Gene]
LOC126862381:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:68298967-68300166 [Gene]
CHD9NB:CHD9 neighbor [Gene - HGNC]
CMTM1:CKLF like MARVEL transmembrane domain containing 1 [Gene - OMIM - HGNC]
CMTM2:CKLF like MARVEL transmembrane domain containing 2 [Gene - OMIM - HGNC]
CMTM3:CKLF like MARVEL transmembrane domain containing 3 [Gene - OMIM - HGNC]
CMTM4:CKLF like MARVEL transmembrane domain containing 4 [Gene - OMIM - HGNC]
CKLF-CMTM1:CKLF-CMTM1 readthrough [Gene - HGNC]
CTCF-DT:CTCF divergent transcript [Gene - HGNC]
CNEP1R1:CTD nuclear envelope phosphatase 1 regulatory subunit 1 [Gene - OMIM - HGNC]
CYLD-AS1:CYLD antisense RNA 1 [Gene - HGNC]
CYLD-AS2:CYLD antisense RNA 2 [Gene - HGNC]
CYLD:CYLD lysine 63 deubiquitinase [Gene - OMIM - HGNC]
DDX28:DEAD-box helicase 28 [Gene - OMIM - HGNC]
DPEP2NB:DPEP2 neighbor [Gene - HGNC]
DYNC1LI2-DT:DYNC1LI2 divergent transcript [Gene - HGNC]
E2F4:E2F transcription factor 4 [Gene - OMIM - HGNC]
FBXL8:F-box and leucine rich repeat protein 8 [Gene - OMIM - HGNC]
FTO:FTO alpha-ketoglutarate dependent dioxygenase [Gene - OMIM - HGNC]
FTO-IT1:FTO intronic transcript 1 [Gene - HGNC]
GNAO1:G protein subunit alpha o1 [Gene - OMIM - HGNC]
GINS3:GINS complex subunit 3 [Gene - OMIM - HGNC]
GNAO1-AS1:GNAO1 antisense RNA 1 [Gene - HGNC]
GNAO1-DT:GNAO1 divergent transcript [Gene - HGNC]
GFOD2:Gfo/Idh/MocA-like oxidoreductase domain containing 2 [Gene - OMIM - HGNC]
HEATR3:HEAT repeat containing 3 [Gene - OMIM - HGNC]
HEATR3-AS1:HEATR3 antisense RNA 1 [Gene - HGNC]
LOC126862342:MED14-independent group 3 enhancer GRCh37_chr16:50347343-50348542 [Gene]
LOC126862348:MED14-independent group 3 enhancer GRCh37_chr16:52331523-52332722 [Gene]
LOC126862354:MED14-independent group 3 enhancer GRCh37_chr16:53411888-53413087 [Gene]
LOC126862358:MED14-independent group 3 enhancer GRCh37_chr16:55786457-55787656 [Gene]
LOC126862360:MED14-independent group 3 enhancer GRCh37_chr16:56102252-56103451 [Gene]
LOC126862364:MED14-independent group 3 enhancer GRCh37_chr16:59100515-59101714 [Gene]
LOC126862365:MED14-independent group 3 enhancer GRCh37_chr16:61921436-61922635 [Gene]
LOC126862366:MED14-independent group 3 enhancer GRCh37_chr16:61966823-61968022 [Gene]
LOC126862367:MED14-independent group 3 enhancer GRCh37_chr16:62887250-62888449 [Gene]
LOC126862369:MED14-independent group 3 enhancer GRCh37_chr16:64567687-64568886 [Gene]
LOC126862370:MED14-independent group 3 enhancer GRCh37_chr16:65408883-65410082 [Gene]
LOC126862372:MED14-independent group 3 enhancer GRCh37_chr16:65966974-65968173 [Gene]
LOC126862373:MED14-independent group 3 enhancer GRCh37_chr16:66008681-66009880 [Gene]
LOC126862376:MED14-independent group 3 enhancer GRCh37_chr16:66975020-66976219 [Gene]
MMP2-AS1:MMP2 antisense RNA 1 [Gene - HGNC]
LOC129390789:MPRA-validated peak2585 silencer [Gene]
LOC129390790:MPRA-validated peak2586 silencer [Gene]
LOC129390791:MPRA-validated peak2587 silencer [Gene]
LOC129390792:MPRA-validated peak2588 silencer [Gene]
LOC129390793:MPRA-validated peak2589 silencer [Gene]
LOC129390794:MPRA-validated peak2593 silencer [Gene]
LOC129390795:MPRA-validated peak2596 silencer [Gene]
LOC129390796:MPRA-validated peak2606 silencer [Gene]
LOC129390797:MPRA-validated peak2607 silencer [Gene]
LOC129390798:MPRA-validated peak2609 silencer [Gene]
LOC129390799:MPRA-validated peak2614 silencer [Gene]
LOC129390800:MPRA-validated peak2616 silencer [Gene]
LOC129390801:MPRA-validated peak2617 silencer [Gene]
LOC129390802:MPRA-validated peak2618 silencer [Gene]
LOC129390803:MPRA-validated peak2620 silencer [Gene]
LOC129390804:MPRA-validated peak2621 silencer [Gene]
NDRG4:NDRG family member 4 [Gene - OMIM - HGNC]
NAE1:NEDD8 activating enzyme E1 subunit 1 [Gene - OMIM - HGNC]
NKD1:NKD inhibitor of WNT signaling pathway 1 [Gene - OMIM - HGNC]
NLRC5:NLR family CARD domain containing 5 [Gene - OMIM - HGNC]
NUP93-DT:NUP93 divergent transcript [Gene - HGNC]
LOC132090379:Neanderthal introgressed variant-containing enhancer experimental_43383 [Gene]
LOC132090380:Neanderthal introgressed variant-containing enhancer experimental_43384 [Gene]
LOC132090381:Neanderthal introgressed variant-containing enhancer experimental_43479 [Gene]
LOC132090382:Neanderthal introgressed variant-containing enhancer experimental_43482 [Gene]
LOC132090383:Neanderthal introgressed variant-containing enhancer experimental_43505 [Gene]
LOC132090384:Neanderthal introgressed variant-containing enhancer experimental_43539 [Gene]
LOC132090385:Neanderthal introgressed variant-containing enhancer experimental_43594 [Gene]
LOC132090386:Neanderthal introgressed variant-containing enhancer experimental_43689 [Gene]
LOC132090387:Neanderthal introgressed variant-containing enhancer experimental_43712 [Gene]
LOC132090388:Neanderthal introgressed variant-containing enhancer experimental_43740 [Gene]
LOC132090389:Neanderthal introgressed variant-containing enhancer experimental_43822 [Gene]
LOC132090390:Neanderthal introgressed variant-containing enhancer experimental_43903 [Gene]
LOC126862346:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:51611051-51612250 [Gene]
LOC126862347:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:51654939-51656138 [Gene]
LOC126862352:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:52846552-52847751 [Gene]
LOC126862353:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:53132870-53134069 [Gene]
LOC126862356:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:54985537-54986736 [Gene]
LOC126862375:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:66961058-66962257 [Gene]
RANBP10:RAN binding protein 10 [Gene - OMIM - HGNC]
RBL2:RB transcriptional corepressor like 2 [Gene - OMIM - HGNC]
RIPOR1:RHO family interacting cell polarization regulator 1 [Gene - OMIM - HGNC]
POLR2C:RNA polymerase II subunit C [Gene - OMIM - HGNC]
RPGRIP1L:RPGRIP1 like [Gene - OMIM - HGNC]
RRAD:RRAD, Ras related glycolysis inhibitor and calcium channel regulator [Gene - OMIM - HGNC]
SETD6:SET domain containing 6, protein lysine methyltransferase [Gene - OMIM - HGNC]
LOC125177336:Sharpr-MPRA regulatory region 10086 [Gene]
LOC112449716:Sharpr-MPRA regulatory region 10092 [Gene]
LOC125177330:Sharpr-MPRA regulatory region 101 [Gene]
LOC121587547:Sharpr-MPRA regulatory region 10529 [Gene]
LOC121587551:Sharpr-MPRA regulatory region 10574 [Gene]
LOC125177314:Sharpr-MPRA regulatory region 10961 [Gene]
LOC121847988:Sharpr-MPRA regulatory region 10980 [Gene]
LOC121847989:Sharpr-MPRA regulatory region 11051 [Gene]
LOC112469015:Sharpr-MPRA regulatory region 11181 [Gene]
LOC125177307:Sharpr-MPRA regulatory region 11329 [Gene]
LOC125177326:Sharpr-MPRA regulatory region 11516 [Gene]
LOC125177334:Sharpr-MPRA regulatory region 11796 [Gene]
LOC125177332:Sharpr-MPRA regulatory region 12004 [Gene]
LOC125177325:Sharpr-MPRA regulatory region 1225 [Gene]
LOC121587550:Sharpr-MPRA regulatory region 12647 [Gene]
LOC112469014:Sharpr-MPRA regulatory region 12864 [Gene]
LOC112469005:Sharpr-MPRA regulatory region 12884 [Gene]
LOC112469013:Sharpr-MPRA regulatory region 12894 [Gene]
LOC125177323:Sharpr-MPRA regulatory region 12895 [Gene]
LOC125177309:Sharpr-MPRA regulatory region 1297 [Gene]
LOC113939954:Sharpr-MPRA regulatory region 13482 [Gene]
LOC125177327:Sharpr-MPRA regulatory region 13659 [Gene]
LOC121587546:Sharpr-MPRA regulatory region 13851 [Gene]
LOC125177308:Sharpr-MPRA regulatory region 14141 [Gene]
LOC125177305:Sharpr-MPRA regulatory region 14159 [Gene]
LOC125177337:Sharpr-MPRA regulatory region 14438 [Gene]
LOC125177320:Sharpr-MPRA regulatory region 1622 [Gene]
LOC125177317:Sharpr-MPRA regulatory region 182 [Gene]
LOC121847987:Sharpr-MPRA regulatory region 2137 [Gene]
LOC125177313:Sharpr-MPRA regulatory region 2551 [Gene]
LOC112469004:Sharpr-MPRA regulatory region 2679 [Gene]
LOC121587548:Sharpr-MPRA regulatory region 2773 [Gene]
LOC125177333:Sharpr-MPRA regulatory region 2980 [Gene]
LOC112469006:Sharpr-MPRA regulatory region 3054 [Gene]
LOC125177312:Sharpr-MPRA regulatory region 3100 [Gene]
LOC125177316:Sharpr-MPRA regulatory region 3138 [Gene]
LOC125177318:Sharpr-MPRA regulatory region 3823 [Gene]
LOC112469011:Sharpr-MPRA regulatory region 3942 [Gene]
LOC121587545:Sharpr-MPRA regulatory region 4020 [Gene]
LOC112449715:Sharpr-MPRA regulatory region 4070 [Gene]
LOC112469012:Sharpr-MPRA regulatory region 4701 [Gene]
LOC112469016:Sharpr-MPRA regulatory region 4953 [Gene]
LOC112469003:Sharpr-MPRA regulatory region 5065 [Gene]
LOC125177324:Sharpr-MPRA regulatory region 5344 [Gene]
LOC125177315:Sharpr-MPRA regulatory region 5485 [Gene]
LOC112469007:Sharpr-MPRA regulatory region 5957 [Gene]
LOC125177340:Sharpr-MPRA regulatory region 6227 [Gene]
LOC125177319:Sharpr-MPRA regulatory region 6357 [Gene]
LOC125177322:Sharpr-MPRA regulatory region 6435 [Gene]
LOC125177338:Sharpr-MPRA regulatory region 6452 [Gene]
LOC125177328:Sharpr-MPRA regulatory region 6563 [Gene]
LOC112469010:Sharpr-MPRA regulatory region 7405 [Gene]
LOC125177339:Sharpr-MPRA regulatory region 7518 [Gene]
LOC112449717:Sharpr-MPRA regulatory region 7594 [Gene]
LOC125177341:Sharpr-MPRA regulatory region 7703 [Gene]
LOC112469009:Sharpr-MPRA regulatory region 7942 [Gene]
LOC112469008:Sharpr-MPRA regulatory region 83 [Gene]
LOC121587549:Sharpr-MPRA regulatory region 8452 [Gene]
LOC125177306:Sharpr-MPRA regulatory region 8986 [Gene]
LOC125177342:Sharpr-MPRA regulatory region 9240 [Gene]
LOC125177311:Sharpr-MPRA regulatory region 9242 [Gene]
THAP11:THAP domain containing 11 [Gene - OMIM - HGNC]
TRADD:TNFRSF1A associated via death domain [Gene - OMIM - HGNC]
TOX3:TOX high mobility group box family member 3 [Gene - OMIM - HGNC]
USB1:U6 snRNA biogenesis phosphodiesterase 1 [Gene - OMIM - HGNC]
B3GNT9:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 [Gene - HGNC]
LOC110121339:VISTA enhancer hs1300 [Gene]
LOC110121356:VISTA enhancer hs1383 [Gene]
LOC110120835:VISTA enhancer hs151 [Gene]
LOC110120836:VISTA enhancer hs152 [Gene]
LOC110120837:VISTA enhancer hs155 [Gene]
LOC110120838:VISTA enhancer hs156 [Gene]
LOC110120839:VISTA enhancer hs157 [Gene]
LOC110120840:VISTA enhancer hs161 [Gene]
LOC110120841:VISTA enhancer hs162 [Gene]
LOC110121443:VISTA enhancer hs1760 [Gene]
LOC110120574:VISTA enhancer hs23 [Gene]
LOC110120575:VISTA enhancer hs26 [Gene]
LOC110120576:VISTA enhancer hs27 [Gene]
LOC110120577:VISTA enhancer hs37 [Gene]
LOC110120578:VISTA enhancer hs43 [Gene]
LOC110120579:VISTA enhancer hs51 [Gene]
LOC110120580:VISTA enhancer hs52 [Gene]
LOC110120581:VISTA enhancer hs59 [Gene]
LOC110120912:VISTA enhancer hs625 [Gene]
LOC110120582:VISTA enhancer hs65 [Gene]
LOC110120583:VISTA enhancer hs71 [Gene]
LOC110120584:VISTA enhancer hs72 [Gene]
LOC110120585:VISTA enhancer hs73 [Gene]
LOC110120586:VISTA enhancer hs74 [Gene]
LOC110120587:VISTA enhancer hs76 [Gene]
LOC110120588:VISTA enhancer hs79 [Gene]
LOC110120939:VISTA enhancer hs848 [Gene]
ADCY7:adenylate cyclase 7 [Gene - OMIM - HGNC]
ADGRG1:adhesion G protein-coupled receptor G1 [Gene - OMIM - HGNC]
ADGRG3:adhesion G protein-coupled receptor G3 [Gene - OMIM - HGNC]
ADGRG5:adhesion G protein-coupled receptor G5 [Gene - OMIM - HGNC]
AGRP:agouti related neuropeptide [Gene - OMIM - HGNC]
AMFR:autocrine motility factor receptor [Gene - OMIM - HGNC]
BEAN1:brain expressed associated with NEDD4 1 [Gene - OMIM - HGNC]
BRD7:bromodomain containing 7 [Gene - OMIM - HGNC]
CDH11:cadherin 11 [Gene - OMIM - HGNC]
CDH16:cadherin 16 [Gene - OMIM - HGNC]
CDH5:cadherin 5 [Gene - OMIM - HGNC]
CDH8:cadherin 8 [Gene - OMIM - HGNC]
CAPNS2:calpain small subunit 2 [Gene - OMIM - HGNC]
CASC16:cancer susceptibility 16 [Gene - HGNC]
CASC22:cancer susceptibility 22 [Gene - HGNC]
CARMIL2:capping protein regulator and myosin 1 linker 2 [Gene - OMIM - HGNC]
CA7:carbonic anhydrase 7 [Gene - OMIM - HGNC]
CES1:carboxylesterase 1 [Gene - OMIM - HGNC]
CES2:carboxylesterase 2 [Gene - OMIM - HGNC]
CES3:carboxylesterase 3 [Gene - OMIM - HGNC]
CES4A:carboxylesterase 4A [Gene - HGNC]
CES5A:carboxylesterase 5A [Gene - OMIM - HGNC]
CSNK2A2:casein kinase 2 alpha 2 [Gene - OMIM - HGNC]
CENPT:centromere protein T [Gene - OMIM - HGNC]
CKLF:chemokine like factor [Gene - OMIM - HGNC]
CETP:cholesteryl ester transfer protein [Gene - OMIM - HGNC]
CHD9:chromodomain helicase DNA binding protein 9 [Gene - OMIM - HGNC]
C16orf86:chromosome 16 open reading frame 86 [Gene - HGNC]
CTRL:chymotrypsin like [Gene - OMIM - HGNC]
CFAP20:cilia and flagella associated protein 20 [Gene - OMIM - HGNC]
CFAP263:cilia and flagella associated protein 263 [Gene - OMIM - HGNC]
COQ9:coenzyme Q9 [Gene - OMIM - HGNC]
CCDC102A:coiled-coil domain containing 102A [Gene - HGNC]
CRNDE:colorectal neoplasia differentially expressed [Gene - OMIM - HGNC]
CPNE2:copine 2 [Gene - OMIM - HGNC]
CBFB:core-binding factor subunit beta [Gene - OMIM - HGNC]
CNGB1:cyclic nucleotide gated channel subunit beta 1 [Gene - OMIM - HGNC]
CIAPIN1:cytokine induced apoptosis inhibitor 1 [Gene - OMIM - HGNC]
CIAO2B:cytosolic iron-sulfur assembly component 2B [Gene - OMIM - HGNC]
DUS2:dihydrouridine synthase 2 [Gene - OMIM - HGNC]
DPEP2:dipeptidase 2 [Gene - OMIM - HGNC]
DPEP3:dipeptidase 3 [Gene - OMIM - HGNC]
DOK4:docking protein 4 [Gene - OMIM - HGNC]
DYNC1LI2:dynein cytoplasmic 1 light intermediate chain 2 [Gene - OMIM - HGNC]
DRC7:dynein regulatory complex subunit 7 [Gene - OMIM - HGNC]
ELMO3:engulfment and cell motility 3 [Gene - OMIM - HGNC]
EDC4:enhancer of mRNA decapping 4 [Gene - OMIM - HGNC]
ENKD1:enkurin domain containing 1 [Gene - HGNC]
ESRP2:epithelial splicing regulatory protein 2 [Gene - OMIM - HGNC]
EXOC3L1:exocyst complex component 3 like 1 [Gene - OMIM - HGNC]
FHOD1:formin homology 2 domain containing 1 [Gene - OMIM - HGNC]
FRA16B:fragile site, distamycin A type, rare, fra(16)(q22.1) [Gene - OMIM - HGNC]
GOT2:glutamic-oxaloacetic transaminase 2 [Gene - OMIM - HGNC]
HSF4:heat shock transcription factor 4 [Gene - OMIM - HGNC]
HNRNPA1L3:heterogeneous nuclear ribonucleoprotein A1 like 3 [Gene - HGNC]
HERPUD1:homocysteine inducible ER protein with ubiquitin like domain 1 [Gene - OMIM - HGNC]
HSD11B2:hydroxysteroid 11-beta dehydrogenase 2 [Gene - OMIM - HGNC]
IRX3:iroquois homeobox 3 [Gene - OMIM - HGNC]
IRX5:iroquois homeobox 5 [Gene - OMIM - HGNC]
IRX6:iroquois homeobox 6 [Gene - OMIM - HGNC]
KATNB1:katanin regulatory subunit B1 [Gene - OMIM - HGNC]
KIFC3:kinesin family member C3 [Gene - OMIM - HGNC]
LCAT:lecithin-cholesterol acyltransferase [Gene - OMIM - HGNC]
LRRC29:leucine rich repeat containing 29 [Gene - HGNC]
LRRC36:leucine rich repeat containing 36 [Gene - HGNC]
LINC01571:long intergenic non-protein coding RNA 1571 [Gene - HGNC]
LINC02126:long intergenic non-protein coding RNA 2126 [Gene - HGNC]
LINC02127:long intergenic non-protein coding RNA 2127 [Gene - HGNC]
LINC02128:long intergenic non-protein coding RNA 2128 [Gene - HGNC]
LINC02137:long intergenic non-protein coding RNA 2137 [Gene - HGNC]
LINC02140:long intergenic non-protein coding RNA 2140 [Gene - HGNC]
LINC02141:long intergenic non-protein coding RNA 2141 [Gene - HGNC]
LINC02168:long intergenic non-protein coding RNA 2168 [Gene - HGNC]
LINC02169:long intergenic non-protein coding RNA 2169 [Gene - HGNC]
LINC02178:long intergenic non-protein coding RNA 2178 [Gene - HGNC]
LINC02180:long intergenic non-protein coding RNA 2180 [Gene - HGNC]
LINC02911:long intergenic non-protein coding RNA 2911 [Gene - HGNC]
LINC03064:long intergenic non-protein coding RNA 3064 [Gene - HGNC]
LINC00919:long intergenic non-protein coding RNA 919 [Gene - HGNC]
LINC00920:long intergenic non-protein coding RNA 920 [Gene - HGNC]
LINC00922:long intergenic non-protein coding RNA 922 [Gene - HGNC]
LPCAT2:lysophosphatidylcholine acyltransferase 2 [Gene - OMIM - HGNC]
MMP15:matrix metallopeptidase 15 [Gene - OMIM - HGNC]
MMP2:matrix metallopeptidase 2 [Gene - OMIM - HGNC]
MT1A:metallothionein 1A [Gene - OMIM - HGNC]
MT1B:metallothionein 1B [Gene - OMIM - HGNC]
MT1E:metallothionein 1E [Gene - OMIM - HGNC]
MT1F:metallothionein 1F [Gene - OMIM - HGNC]
MT1G:metallothionein 1G [Gene - OMIM - HGNC]
MT1H:metallothionein 1H [Gene - OMIM - HGNC]
MT1M:metallothionein 1M [Gene - OMIM - HGNC]
MT1X:metallothionein 1X [Gene - OMIM - HGNC]
MT2A:metallothionein 2A [Gene - OMIM - HGNC]
MT3:metallothionein 3 [Gene - OMIM - HGNC]
MT4:metallothionein 4 [Gene - OMIM - HGNC]
MIR138-2:microRNA 138-2 [Gene - OMIM - HGNC]
MIR3181:microRNA 3181 [Gene - HGNC]
MIR328:microRNA 328 [Gene - OMIM - HGNC]
MIR3935:microRNA 3935 [Gene - HGNC]
MIR6771:microRNA 6771 [Gene - HGNC]
MIR6772:microRNA 6772 [Gene - HGNC]
MIR6773:microRNA 6773 [Gene - HGNC]
MIR6863:microRNA 6863 [Gene - HGNC]
MATCAP1:microtubule associated tyrosine carboxypeptidase 1 [Gene - OMIM - HGNC]
NRN1L:neuritin 1 like [Gene - HGNC]
NFATC3:nuclear factor of activated T cells 3 [Gene - OMIM - HGNC]
NUTF2:nuclear transport factor 2 [Gene - OMIM - HGNC]
NOL3:nucleolar protein 3 [Gene - OMIM - HGNC]
NUP93:nucleoporin 93 [Gene - OMIM - HGNC]
NOD2:nucleotide binding oligomerization domain containing 2 [Gene - OMIM - HGNC]
NUDT21:nudix hydrolase 21 [Gene - OMIM - HGNC]
PARD6A:par-6 family cell polarity regulator alpha [Gene - OMIM - HGNC]
PHAF1:phagosome assembly factor 1 [Gene - HGNC]
PLA2G15:phospholipase A2 group XV [Gene - OMIM - HGNC]
PLLP:plasmolipin [Gene - OMIM - HGNC]
PLEKHG4:pleckstrin homology and RhoGEF domain containing G4 [Gene - OMIM - HGNC]
KCTD19:potassium channel tetramerization domain containing 19 [Gene - OMIM - HGNC]
PSMB10:proteasome 20S subunit beta 10 [Gene - OMIM - HGNC]
PSME3IP1:proteasome activator subunit 3 interacting protein 1 [Gene - OMIM - HGNC]
PRMT7:protein arginine methyltransferase 7 [Gene - OMIM - HGNC]
PSKH1:protein serine kinase H1 [Gene - OMIM - HGNC]
PDP2:pyruvate dehydrogenase phosphatase catalytic subunit 2 [Gene - OMIM - HGNC]
RSPRY1:ring finger and SPRY domain containing 1 [Gene - OMIM - HGNC]
PRSS54:serine protease 54 [Gene - HGNC]
SNORA46:small nucleolar RNA, H/ACA box 46 [Gene - HGNC]
SNORA50A:small nucleolar RNA, H/ACA box 50A [Gene - HGNC]
SLC12A3:solute carrier family 12 member 3 [Gene - OMIM - HGNC]
SLC12A4:solute carrier family 12 member 4 [Gene - OMIM - HGNC]
SLC38A7:solute carrier family 38 member 7 [Gene - OMIM - HGNC]
SLC6A2:solute carrier family 6 member 2 [Gene - OMIM - HGNC]
SLC7A6OS:solute carrier family 7 member 6 opposite strand [Gene - OMIM - HGNC]
SLC7A6:solute carrier family 7 member 6 [Gene - OMIM - HGNC]
SLC9A5:solute carrier family 9 member A5 [Gene - OMIM - HGNC]
SNX20:sorting nexin 20 [Gene - OMIM - HGNC]
SALL1:spalt like transcription factor 1 [Gene - OMIM - HGNC]
SPMIP8:sperm microtubule inner protein 8 [Gene - OMIM - HGNC]
SMPD3:sphingomyelin phosphodiesterase 3 [Gene - OMIM - HGNC]
TRL-CAG2-1:tRNA-Leu (anticodon CAG) 2-1 [Gene - HGNC]
TRL-CAG2-2:tRNA-Leu (anticodon CAG) 2-2 [Gene - HGNC]
TERB1:telomere repeat binding bouquet formation protein 1 [Gene - OMIM - HGNC]
TENT4B:terminal nucleotidyltransferase 4B [Gene - OMIM - HGNC]
TK2:thymidine kinase 2 [Gene - OMIM - HGNC]
TSNAXIP1:translin associated factor X interacting protein 1 [Gene - OMIM - HGNC]
TMEM208:transmembrane protein 208 [Gene - OMIM - HGNC]
TPPP3:tubulin polymerization promoting protein family member 3 [Gene - OMIM - HGNC]
LOC100505942:uncharacterized LOC100505942 [Gene]
LOC101927272:uncharacterized LOC101927272 [Gene]
LOC101927480:uncharacterized LOC101927480 [Gene]
LOC101927556:uncharacterized LOC101927556 [Gene]
LOC102723373:uncharacterized LOC102723373 [Gene]
LOC102725116:uncharacterized LOC102725116 [Gene]
LOC105371296:uncharacterized LOC105371296 [Gene]
LOC388282:uncharacterized LOC388282 [Gene]
ZDHHC1:zinc finger DHHC-type containing 1 [Gene - HGNC]
ZNF319:zinc finger protein 319 [Gene - HGNC]
ZNF423:zinc finger protein 423 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

16q12.1-22.1

Genomic location:

Preferred name:

GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3

HGVS:

NC_000016.10:g.(?_49685521)_(68401712_?)dup
NC_000016.9:g.(?_49719432)_(68435615_?)dup

Links:

dbVar: nssv3395390; dbVar: nsv996203

Observations:

Condition(s)

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

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PREDICTED: Homo sapiens LLGL scribble cell polarity complex component 2 (LLGL2),...
PREDICTED: Homo sapiens LLGL scribble cell polarity complex component 2 (LLGL2), transcript variant X7, mRNA
gi|2217311729|ref|XM_047435978.1|

Nucleotide
Acinetobacter sp. strain 23A3887 extended-spectrum class C beta-lactamase ADC-35...
Acinetobacter sp. strain 23A3887 extended-spectrum class C beta-lactamase ADC-353 (blaADC) gene, blaADC-353 allele, complete cds
gi|2675378999|gb|PP328951.1|

Nucleotide
hypothetical protein Lpp48_00195 [Lacticaseibacillus paracasei subsp. paracasei ...
hypothetical protein Lpp48_00195 [Lacticaseibacillus paracasei subsp. paracasei Lpp48]
gi|511487119|gb|EPD12119.1||gnl|WGS |Lpp48_00195

Protein
Hepatitis C virus isolate V2094 NS3-4A protease gene, partial cds
Hepatitis C virus isolate V2094 NS3-4A protease gene, partial cds
gi|422094954|gb|KC127101.1|

Nucleotide
serine protease HTRA2, mitochondrial isoform 1 preproprotein [Homo sapiens]
serine protease HTRA2, mitochondrial isoform 1 preproprotein [Homo sapiens]
gi|7019477|ref|NP_037379.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000183633	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Mar 18, 2014)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000183633

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Mar 18, 2014)

unknown

clinical testing

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

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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

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, SCV000183633.4

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

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

Last Updated: May 7, 2024

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