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GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3 AND Neurodevelopmental disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 24, 2023
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:
RCV003327615.2

Allele description [Variation Report for GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3]

GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3

Genes:
  • ASAP1-IT1:ASAP1 intronic transcript 1 [Gene - HGNC]
  • ASAP1-IT2:ASAP1 intronic transcript 2 [Gene - HGNC]
  • LOC130000983:ATAC-STARR-seq lymphoblastoid active region 27822 [Gene]
  • LOC130000984:ATAC-STARR-seq lymphoblastoid active region 27823 [Gene]
  • LOC130000985:ATAC-STARR-seq lymphoblastoid active region 27824 [Gene]
  • LOC130000986:ATAC-STARR-seq lymphoblastoid active region 27825 [Gene]
  • LOC130000987:ATAC-STARR-seq lymphoblastoid active region 27826 [Gene]
  • LOC130000988:ATAC-STARR-seq lymphoblastoid active region 27827 [Gene]
  • LOC130000989:ATAC-STARR-seq lymphoblastoid active region 27828 [Gene]
  • LOC130000990:ATAC-STARR-seq lymphoblastoid active region 27830 [Gene]
  • LOC130000991:ATAC-STARR-seq lymphoblastoid active region 27831 [Gene]
  • LOC130000994:ATAC-STARR-seq lymphoblastoid active region 27832 [Gene]
  • LOC130000995:ATAC-STARR-seq lymphoblastoid active region 27833 [Gene]
  • LOC130000996:ATAC-STARR-seq lymphoblastoid active region 27834 [Gene]
  • LOC130001000:ATAC-STARR-seq lymphoblastoid active region 27835 [Gene]
  • LOC130001001:ATAC-STARR-seq lymphoblastoid active region 27836 [Gene]
  • LOC130001005:ATAC-STARR-seq lymphoblastoid active region 27837 [Gene]
  • LOC130001006:ATAC-STARR-seq lymphoblastoid active region 27838 [Gene]
  • LOC130001007:ATAC-STARR-seq lymphoblastoid active region 27839 [Gene]
  • LOC130001008:ATAC-STARR-seq lymphoblastoid active region 27840 [Gene]
  • LOC130001011:ATAC-STARR-seq lymphoblastoid active region 27841 [Gene]
  • LOC130001012:ATAC-STARR-seq lymphoblastoid active region 27842 [Gene]
  • LOC130001013:ATAC-STARR-seq lymphoblastoid active region 27843 [Gene]
  • LOC130001014:ATAC-STARR-seq lymphoblastoid active region 27844 [Gene]
  • LOC130001017:ATAC-STARR-seq lymphoblastoid active region 27848 [Gene]
  • LOC130001018:ATAC-STARR-seq lymphoblastoid active region 27849 [Gene]
  • LOC130001019:ATAC-STARR-seq lymphoblastoid active region 27850 [Gene]
  • LOC130001021:ATAC-STARR-seq lymphoblastoid active region 27851 [Gene]
  • LOC130001022:ATAC-STARR-seq lymphoblastoid active region 27852 [Gene]
  • LOC130001023:ATAC-STARR-seq lymphoblastoid active region 27853 [Gene]
  • LOC130001027:ATAC-STARR-seq lymphoblastoid active region 27854 [Gene]
  • LOC130001028:ATAC-STARR-seq lymphoblastoid active region 27856 [Gene]
  • LOC130001030:ATAC-STARR-seq lymphoblastoid active region 27857 [Gene]
  • LOC130001032:ATAC-STARR-seq lymphoblastoid active region 27859 [Gene]
  • LOC130001033:ATAC-STARR-seq lymphoblastoid active region 27860 [Gene]
  • LOC130001034:ATAC-STARR-seq lymphoblastoid active region 27861 [Gene]
  • LOC130001035:ATAC-STARR-seq lymphoblastoid active region 27862 [Gene]
  • LOC130001036:ATAC-STARR-seq lymphoblastoid active region 27863 [Gene]
  • LOC130001038:ATAC-STARR-seq lymphoblastoid active region 27864 [Gene]
  • LOC130001040:ATAC-STARR-seq lymphoblastoid active region 27865 [Gene]
  • LOC130001041:ATAC-STARR-seq lymphoblastoid active region 27866 [Gene]
  • LOC130001043:ATAC-STARR-seq lymphoblastoid active region 27867 [Gene]
  • LOC130001044:ATAC-STARR-seq lymphoblastoid active region 27868 [Gene]
  • LOC130001045:ATAC-STARR-seq lymphoblastoid active region 27869 [Gene]
  • LOC130001047:ATAC-STARR-seq lymphoblastoid active region 27870 [Gene]
  • LOC130001050:ATAC-STARR-seq lymphoblastoid active region 27871 [Gene]
  • LOC130001051:ATAC-STARR-seq lymphoblastoid active region 27872 [Gene]
  • LOC130001053:ATAC-STARR-seq lymphoblastoid active region 27873 [Gene]
  • LOC130001054:ATAC-STARR-seq lymphoblastoid active region 27874 [Gene]
  • LOC130001056:ATAC-STARR-seq lymphoblastoid active region 27875 [Gene]
  • LOC130001062:ATAC-STARR-seq lymphoblastoid active region 27876 [Gene]
  • LOC130001063:ATAC-STARR-seq lymphoblastoid active region 27877 [Gene]
  • LOC130001064:ATAC-STARR-seq lymphoblastoid active region 27878 [Gene]
  • LOC130001066:ATAC-STARR-seq lymphoblastoid active region 27879 [Gene]
  • LOC130001067:ATAC-STARR-seq lymphoblastoid active region 27880 [Gene]
  • LOC130001072:ATAC-STARR-seq lymphoblastoid active region 27881 [Gene]
  • LOC130001073:ATAC-STARR-seq lymphoblastoid active region 27882 [Gene]
  • LOC130001074:ATAC-STARR-seq lymphoblastoid active region 27884 [Gene]
  • LOC130001075:ATAC-STARR-seq lymphoblastoid active region 27885 [Gene]
  • LOC130001076:ATAC-STARR-seq lymphoblastoid active region 27886 [Gene]
  • LOC130001078:ATAC-STARR-seq lymphoblastoid active region 27887 [Gene]
  • LOC130001079:ATAC-STARR-seq lymphoblastoid active region 27888 [Gene]
  • LOC130001080:ATAC-STARR-seq lymphoblastoid active region 27889 [Gene]
  • LOC130001081:ATAC-STARR-seq lymphoblastoid active region 27890 [Gene]
  • LOC130001082:ATAC-STARR-seq lymphoblastoid active region 27891 [Gene]
  • LOC130001083:ATAC-STARR-seq lymphoblastoid active region 27892 [Gene]
  • LOC130001084:ATAC-STARR-seq lymphoblastoid active region 27893 [Gene]
  • LOC130001085:ATAC-STARR-seq lymphoblastoid active region 27894 [Gene]
  • LOC130001086:ATAC-STARR-seq lymphoblastoid active region 27895 [Gene]
  • LOC130001088:ATAC-STARR-seq lymphoblastoid active region 27896 [Gene]
  • LOC130001089:ATAC-STARR-seq lymphoblastoid active region 27897 [Gene]
  • LOC130001091:ATAC-STARR-seq lymphoblastoid active region 27898 [Gene]
  • LOC130001093:ATAC-STARR-seq lymphoblastoid active region 27899 [Gene]
  • LOC130001094:ATAC-STARR-seq lymphoblastoid active region 27900 [Gene]
  • LOC130001095:ATAC-STARR-seq lymphoblastoid active region 27901 [Gene]
  • LOC130001096:ATAC-STARR-seq lymphoblastoid active region 27902 [Gene]
  • LOC130001097:ATAC-STARR-seq lymphoblastoid active region 27903 [Gene]
  • LOC130001098:ATAC-STARR-seq lymphoblastoid active region 27904 [Gene]
  • LOC130001099:ATAC-STARR-seq lymphoblastoid active region 27905 [Gene]
  • LOC130001100:ATAC-STARR-seq lymphoblastoid active region 27906 [Gene]
  • LOC130001101:ATAC-STARR-seq lymphoblastoid active region 27907 [Gene]
  • LOC130001102:ATAC-STARR-seq lymphoblastoid active region 27908 [Gene]
  • LOC130001103:ATAC-STARR-seq lymphoblastoid active region 27909 [Gene]
  • LOC130001104:ATAC-STARR-seq lymphoblastoid active region 27910 [Gene]
  • LOC130001105:ATAC-STARR-seq lymphoblastoid active region 27913 [Gene]
  • LOC130001107:ATAC-STARR-seq lymphoblastoid active region 27914 [Gene]
  • LOC130001109:ATAC-STARR-seq lymphoblastoid active region 27915 [Gene]
  • LOC130001110:ATAC-STARR-seq lymphoblastoid active region 27916 [Gene]
  • LOC130001111:ATAC-STARR-seq lymphoblastoid active region 27917 [Gene]
  • LOC130001112:ATAC-STARR-seq lymphoblastoid active region 27920 [Gene]
  • LOC130001113:ATAC-STARR-seq lymphoblastoid active region 27921 [Gene]
  • LOC130001114:ATAC-STARR-seq lymphoblastoid active region 27922 [Gene]
  • LOC130001115:ATAC-STARR-seq lymphoblastoid active region 27923 [Gene]
  • LOC130001116:ATAC-STARR-seq lymphoblastoid active region 27924 [Gene]
  • LOC130001117:ATAC-STARR-seq lymphoblastoid active region 27925 [Gene]
  • LOC130001118:ATAC-STARR-seq lymphoblastoid active region 27926 [Gene]
  • LOC130001119:ATAC-STARR-seq lymphoblastoid active region 27927 [Gene]
  • LOC130001120:ATAC-STARR-seq lymphoblastoid active region 27928 [Gene]
  • LOC130001123:ATAC-STARR-seq lymphoblastoid active region 27929 [Gene]
  • LOC130001125:ATAC-STARR-seq lymphoblastoid active region 27930 [Gene]
  • LOC130001126:ATAC-STARR-seq lymphoblastoid active region 27931 [Gene]
  • LOC130001127:ATAC-STARR-seq lymphoblastoid active region 27932 [Gene]
  • LOC130001129:ATAC-STARR-seq lymphoblastoid active region 27933 [Gene]
  • LOC130001132:ATAC-STARR-seq lymphoblastoid active region 27934 [Gene]
  • LOC130001133:ATAC-STARR-seq lymphoblastoid active region 27935 [Gene]
  • LOC130001134:ATAC-STARR-seq lymphoblastoid active region 27936 [Gene]
  • LOC130001135:ATAC-STARR-seq lymphoblastoid active region 27937 [Gene]
  • LOC130001136:ATAC-STARR-seq lymphoblastoid active region 27938 [Gene]
  • LOC130001137:ATAC-STARR-seq lymphoblastoid active region 27939 [Gene]
  • LOC130001138:ATAC-STARR-seq lymphoblastoid active region 27940 [Gene]
  • LOC130001139:ATAC-STARR-seq lymphoblastoid active region 27941 [Gene]
  • LOC130001141:ATAC-STARR-seq lymphoblastoid active region 27942 [Gene]
  • LOC130001142:ATAC-STARR-seq lymphoblastoid active region 27943 [Gene]
  • LOC130001143:ATAC-STARR-seq lymphoblastoid active region 27944 [Gene]
  • LOC130001144:ATAC-STARR-seq lymphoblastoid active region 27945 [Gene]
  • LOC130001146:ATAC-STARR-seq lymphoblastoid active region 27946 [Gene]
  • LOC130001151:ATAC-STARR-seq lymphoblastoid active region 27949 [Gene]
  • LOC130001152:ATAC-STARR-seq lymphoblastoid active region 27950 [Gene]
  • LOC130001153:ATAC-STARR-seq lymphoblastoid active region 27951 [Gene]
  • LOC130001154:ATAC-STARR-seq lymphoblastoid active region 27953 [Gene]
  • LOC130001156:ATAC-STARR-seq lymphoblastoid active region 27954 [Gene]
  • LOC130001157:ATAC-STARR-seq lymphoblastoid active region 27956 [Gene]
  • LOC130001158:ATAC-STARR-seq lymphoblastoid active region 27957 [Gene]
  • LOC130001159:ATAC-STARR-seq lymphoblastoid active region 27958 [Gene]
  • LOC130001161:ATAC-STARR-seq lymphoblastoid active region 27959 [Gene]
  • LOC130001163:ATAC-STARR-seq lymphoblastoid active region 27960 [Gene]
  • LOC130001164:ATAC-STARR-seq lymphoblastoid active region 27961 [Gene]
  • LOC130001165:ATAC-STARR-seq lymphoblastoid active region 27963 [Gene]
  • LOC130001167:ATAC-STARR-seq lymphoblastoid active region 27964 [Gene]
  • LOC130001168:ATAC-STARR-seq lymphoblastoid active region 27965 [Gene]
  • LOC130001169:ATAC-STARR-seq lymphoblastoid active region 27966 [Gene]
  • LOC130001171:ATAC-STARR-seq lymphoblastoid active region 27967 [Gene]
  • LOC130001172:ATAC-STARR-seq lymphoblastoid active region 27968 [Gene]
  • LOC130001173:ATAC-STARR-seq lymphoblastoid active region 27969 [Gene]
  • LOC130001175:ATAC-STARR-seq lymphoblastoid active region 27970 [Gene]
  • LOC130001176:ATAC-STARR-seq lymphoblastoid active region 27971 [Gene]
  • LOC130001177:ATAC-STARR-seq lymphoblastoid active region 27972 [Gene]
  • LOC130001179:ATAC-STARR-seq lymphoblastoid active region 27973 [Gene]
  • LOC130001180:ATAC-STARR-seq lymphoblastoid active region 27974 [Gene]
  • LOC130001181:ATAC-STARR-seq lymphoblastoid active region 27975 [Gene]
  • LOC130001182:ATAC-STARR-seq lymphoblastoid active region 27976 [Gene]
  • LOC130001187:ATAC-STARR-seq lymphoblastoid active region 27979 [Gene]
  • LOC130001188:ATAC-STARR-seq lymphoblastoid active region 27980 [Gene]
  • LOC130001189:ATAC-STARR-seq lymphoblastoid active region 27981 [Gene]
  • LOC130001190:ATAC-STARR-seq lymphoblastoid active region 27982 [Gene]
  • LOC130001191:ATAC-STARR-seq lymphoblastoid active region 27983 [Gene]
  • LOC130001192:ATAC-STARR-seq lymphoblastoid active region 27984 [Gene]
  • LOC130001193:ATAC-STARR-seq lymphoblastoid active region 27985 [Gene]
  • LOC130001194:ATAC-STARR-seq lymphoblastoid active region 27986 [Gene]
  • LOC130001200:ATAC-STARR-seq lymphoblastoid active region 27987 [Gene]
  • LOC130001201:ATAC-STARR-seq lymphoblastoid active region 27988 [Gene]
  • LOC130001203:ATAC-STARR-seq lymphoblastoid active region 27989 [Gene]
  • LOC130001204:ATAC-STARR-seq lymphoblastoid active region 27990 [Gene]
  • LOC130001206:ATAC-STARR-seq lymphoblastoid active region 27991 [Gene]
  • LOC130001209:ATAC-STARR-seq lymphoblastoid active region 27992 [Gene]
  • LOC130001211:ATAC-STARR-seq lymphoblastoid active region 27993 [Gene]
  • LOC130001214:ATAC-STARR-seq lymphoblastoid active region 27994 [Gene]
  • LOC130001215:ATAC-STARR-seq lymphoblastoid active region 27995 [Gene]
  • LOC130001217:ATAC-STARR-seq lymphoblastoid active region 27996 [Gene]
  • LOC130001218:ATAC-STARR-seq lymphoblastoid active region 27997 [Gene]
  • LOC130001219:ATAC-STARR-seq lymphoblastoid active region 27998 [Gene]
  • LOC130001220:ATAC-STARR-seq lymphoblastoid active region 27999 [Gene]
  • LOC130001221:ATAC-STARR-seq lymphoblastoid active region 28000 [Gene]
  • LOC130001222:ATAC-STARR-seq lymphoblastoid active region 28001 [Gene]
  • LOC130001224:ATAC-STARR-seq lymphoblastoid active region 28002 [Gene]
  • LOC130001225:ATAC-STARR-seq lymphoblastoid active region 28003 [Gene]
  • LOC130001226:ATAC-STARR-seq lymphoblastoid active region 28004 [Gene]
  • LOC130001229:ATAC-STARR-seq lymphoblastoid active region 28007 [Gene]
  • LOC130001231:ATAC-STARR-seq lymphoblastoid active region 28008 [Gene]
  • LOC130001232:ATAC-STARR-seq lymphoblastoid active region 28009 [Gene]
  • LOC130001233:ATAC-STARR-seq lymphoblastoid active region 28010 [Gene]
  • LOC130001234:ATAC-STARR-seq lymphoblastoid active region 28011 [Gene]
  • LOC130001235:ATAC-STARR-seq lymphoblastoid active region 28012 [Gene]
  • LOC130001236:ATAC-STARR-seq lymphoblastoid active region 28013 [Gene]
  • LOC130001237:ATAC-STARR-seq lymphoblastoid active region 28014 [Gene]
  • LOC130001238:ATAC-STARR-seq lymphoblastoid active region 28015 [Gene]
  • LOC130001239:ATAC-STARR-seq lymphoblastoid active region 28016 [Gene]
  • LOC130001240:ATAC-STARR-seq lymphoblastoid active region 28017 [Gene]
  • LOC130001241:ATAC-STARR-seq lymphoblastoid active region 28018 [Gene]
  • LOC130001242:ATAC-STARR-seq lymphoblastoid active region 28019 [Gene]
  • LOC130001243:ATAC-STARR-seq lymphoblastoid active region 28020 [Gene]
  • LOC130001244:ATAC-STARR-seq lymphoblastoid active region 28021 [Gene]
  • LOC130001245:ATAC-STARR-seq lymphoblastoid active region 28022 [Gene]
  • LOC130000992:ATAC-STARR-seq lymphoblastoid silent region 19473 [Gene]
  • LOC130000993:ATAC-STARR-seq lymphoblastoid silent region 19474 [Gene]
  • LOC130000997:ATAC-STARR-seq lymphoblastoid silent region 19475 [Gene]
  • LOC130000998:ATAC-STARR-seq lymphoblastoid silent region 19476 [Gene]
  • LOC130000999:ATAC-STARR-seq lymphoblastoid silent region 19477 [Gene]
  • LOC130001002:ATAC-STARR-seq lymphoblastoid silent region 19478 [Gene]
  • LOC130001003:ATAC-STARR-seq lymphoblastoid silent region 19479 [Gene]
  • LOC130001004:ATAC-STARR-seq lymphoblastoid silent region 19480 [Gene]
  • LOC130001009:ATAC-STARR-seq lymphoblastoid silent region 19481 [Gene]
  • LOC130001010:ATAC-STARR-seq lymphoblastoid silent region 19482 [Gene]
  • LOC130001015:ATAC-STARR-seq lymphoblastoid silent region 19483 [Gene]
  • LOC130001016:ATAC-STARR-seq lymphoblastoid silent region 19484 [Gene]
  • LOC130001020:ATAC-STARR-seq lymphoblastoid silent region 19485 [Gene]
  • LOC130001024:ATAC-STARR-seq lymphoblastoid silent region 19486 [Gene]
  • LOC130001025:ATAC-STARR-seq lymphoblastoid silent region 19487 [Gene]
  • LOC130001026:ATAC-STARR-seq lymphoblastoid silent region 19488 [Gene]
  • LOC130001029:ATAC-STARR-seq lymphoblastoid silent region 19489 [Gene]
  • LOC130001031:ATAC-STARR-seq lymphoblastoid silent region 19490 [Gene]
  • LOC130001037:ATAC-STARR-seq lymphoblastoid silent region 19491 [Gene]
  • LOC130001039:ATAC-STARR-seq lymphoblastoid silent region 19492 [Gene]
  • LOC130001042:ATAC-STARR-seq lymphoblastoid silent region 19493 [Gene]
  • LOC130001046:ATAC-STARR-seq lymphoblastoid silent region 19494 [Gene]
  • LOC130001048:ATAC-STARR-seq lymphoblastoid silent region 19496 [Gene]
  • LOC130001049:ATAC-STARR-seq lymphoblastoid silent region 19497 [Gene]
  • LOC130001052:ATAC-STARR-seq lymphoblastoid silent region 19498 [Gene]
  • LOC130001055:ATAC-STARR-seq lymphoblastoid silent region 19499 [Gene]
  • LOC130001057:ATAC-STARR-seq lymphoblastoid silent region 19502 [Gene]
  • LOC130001058:ATAC-STARR-seq lymphoblastoid silent region 19503 [Gene]
  • LOC130001059:ATAC-STARR-seq lymphoblastoid silent region 19504 [Gene]
  • LOC130001060:ATAC-STARR-seq lymphoblastoid silent region 19505 [Gene]
  • LOC130001061:ATAC-STARR-seq lymphoblastoid silent region 19506 [Gene]
  • LOC130001065:ATAC-STARR-seq lymphoblastoid silent region 19507 [Gene]
  • LOC130001068:ATAC-STARR-seq lymphoblastoid silent region 19508 [Gene]
  • LOC130001069:ATAC-STARR-seq lymphoblastoid silent region 19509 [Gene]
  • LOC130001070:ATAC-STARR-seq lymphoblastoid silent region 19510 [Gene]
  • LOC130001071:ATAC-STARR-seq lymphoblastoid silent region 19511 [Gene]
  • LOC130001077:ATAC-STARR-seq lymphoblastoid silent region 19514 [Gene]
  • LOC130001087:ATAC-STARR-seq lymphoblastoid silent region 19515 [Gene]
  • LOC130001090:ATAC-STARR-seq lymphoblastoid silent region 19516 [Gene]
  • LOC130001092:ATAC-STARR-seq lymphoblastoid silent region 19517 [Gene]
  • LOC130001106:ATAC-STARR-seq lymphoblastoid silent region 19518 [Gene]
  • LOC130001108:ATAC-STARR-seq lymphoblastoid silent region 19519 [Gene]
  • LOC130001121:ATAC-STARR-seq lymphoblastoid silent region 19520 [Gene]
  • LOC130001122:ATAC-STARR-seq lymphoblastoid silent region 19521 [Gene]
  • LOC130001124:ATAC-STARR-seq lymphoblastoid silent region 19523 [Gene]
  • LOC130001128:ATAC-STARR-seq lymphoblastoid silent region 19524 [Gene]
  • LOC130001130:ATAC-STARR-seq lymphoblastoid silent region 19525 [Gene]
  • LOC130001131:ATAC-STARR-seq lymphoblastoid silent region 19526 [Gene]
  • LOC130001140:ATAC-STARR-seq lymphoblastoid silent region 19527 [Gene]
  • LOC130001145:ATAC-STARR-seq lymphoblastoid silent region 19528 [Gene]
  • LOC129929031:ATAC-STARR-seq lymphoblastoid silent region 19530 [Gene]
  • LOC130001147:ATAC-STARR-seq lymphoblastoid silent region 19531 [Gene]
  • LOC130001148:ATAC-STARR-seq lymphoblastoid silent region 19532 [Gene]
  • LOC130001149:ATAC-STARR-seq lymphoblastoid silent region 19533 [Gene]
  • LOC130001150:ATAC-STARR-seq lymphoblastoid silent region 19534 [Gene]
  • LOC130001155:ATAC-STARR-seq lymphoblastoid silent region 19535 [Gene]
  • LOC130001160:ATAC-STARR-seq lymphoblastoid silent region 19536 [Gene]
  • LOC130001162:ATAC-STARR-seq lymphoblastoid silent region 19537 [Gene]
  • LOC130001166:ATAC-STARR-seq lymphoblastoid silent region 19538 [Gene]
  • LOC130001170:ATAC-STARR-seq lymphoblastoid silent region 19539 [Gene]
  • LOC130001174:ATAC-STARR-seq lymphoblastoid silent region 19540 [Gene]
  • LOC130001178:ATAC-STARR-seq lymphoblastoid silent region 19541 [Gene]
  • LOC130001183:ATAC-STARR-seq lymphoblastoid silent region 19542 [Gene]
  • LOC130001184:ATAC-STARR-seq lymphoblastoid silent region 19543 [Gene]
  • LOC130001185:ATAC-STARR-seq lymphoblastoid silent region 19544 [Gene]
  • LOC130001186:ATAC-STARR-seq lymphoblastoid silent region 19545 [Gene]
  • LOC130001195:ATAC-STARR-seq lymphoblastoid silent region 19546 [Gene]
  • LOC130001196:ATAC-STARR-seq lymphoblastoid silent region 19551 [Gene]
  • LOC130001197:ATAC-STARR-seq lymphoblastoid silent region 19552 [Gene]
  • LOC130001198:ATAC-STARR-seq lymphoblastoid silent region 19553 [Gene]
  • LOC130001199:ATAC-STARR-seq lymphoblastoid silent region 19554 [Gene]
  • LOC130001202:ATAC-STARR-seq lymphoblastoid silent region 19555 [Gene]
  • LOC130001205:ATAC-STARR-seq lymphoblastoid silent region 19556 [Gene]
  • LOC130001207:ATAC-STARR-seq lymphoblastoid silent region 19557 [Gene]
  • LOC130001208:ATAC-STARR-seq lymphoblastoid silent region 19559 [Gene]
  • LOC130001210:ATAC-STARR-seq lymphoblastoid silent region 19560 [Gene]
  • LOC130001212:ATAC-STARR-seq lymphoblastoid silent region 19561 [Gene]
  • LOC130001213:ATAC-STARR-seq lymphoblastoid silent region 19562 [Gene]
  • LOC130001216:ATAC-STARR-seq lymphoblastoid silent region 19563 [Gene]
  • LOC130001223:ATAC-STARR-seq lymphoblastoid silent region 19564 [Gene]
  • LOC130001227:ATAC-STARR-seq lymphoblastoid silent region 19565 [Gene]
  • LOC130001228:ATAC-STARR-seq lymphoblastoid silent region 19566 [Gene]
  • LOC130001230:ATAC-STARR-seq lymphoblastoid silent region 19567 [Gene]
  • LOC130001246:ATAC-STARR-seq lymphoblastoid silent region 19568 [Gene]
  • LOC130001247:ATAC-STARR-seq lymphoblastoid silent region 19569 [Gene]
  • ATAD2:ATPase family AAA domain containing 2 [Gene - OMIM - HGNC]
  • ASAP1:ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 [Gene - OMIM - HGNC]
  • LOC126860480:BRD4-independent group 4 enhancer GRCh37_chr8:120079461-120080660 [Gene]
  • LOC126860483:BRD4-independent group 4 enhancer GRCh37_chr8:120450916-120452115 [Gene]
  • LOC126860485:BRD4-independent group 4 enhancer GRCh37_chr8:123701812-123703011 [Gene]
  • LOC126860487:BRD4-independent group 4 enhancer GRCh37_chr8:123809400-123810599 [Gene]
  • LOC126860492:BRD4-independent group 4 enhancer GRCh37_chr8:124160865-124162064 [Gene]
  • LOC126860493:BRD4-independent group 4 enhancer GRCh37_chr8:124539974-124541173 [Gene]
  • LOC126860496:BRD4-independent group 4 enhancer GRCh37_chr8:125638519-125639718 [Gene]
  • LOC121740730:BRD4-independent group 4 enhancer GRCh37_chr8:125860005-125861204 [Gene]
  • LOC126860497:BRD4-independent group 4 enhancer GRCh37_chr8:125968524-125969723 [Gene]
  • LOC126860499:BRD4-independent group 4 enhancer GRCh37_chr8:126201101-126202300 [Gene]
  • LOC126860505:BRD4-independent group 4 enhancer GRCh37_chr8:127445690-127446889 [Gene]
  • LOC126860513:BRD4-independent group 4 enhancer GRCh37_chr8:129908740-129909939 [Gene]
  • LOC126860515:BRD4-independent group 4 enhancer GRCh37_chr8:130343219-130344418 [Gene]
  • LOC126860516:BRD4-independent group 4 enhancer GRCh37_chr8:130598970-130600169 [Gene]
  • LOC126860521:BRD4-independent group 4 enhancer GRCh37_chr8:131915981-131917180 [Gene]
  • LOC126860527:BRD4-independent group 4 enhancer GRCh37_chr8:134061257-134062456 [Gene]
  • LOC108228207:CASC19-CCAT1 intergenic CAGE-defined high expression enhancer [Gene]
  • LOC108353813:CCAT1 intron CAGE-defined B cell enhancer [Gene]
  • CCDC26:CCDC26 long non-coding RNA [Gene - OMIM - HGNC]
  • LOC126860477:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:118400318-118401517 [Gene]
  • LOC126860484:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:121567323-121568522 [Gene]
  • LOC126860486:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:123705641-123706840 [Gene]
  • LOC126860489:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:123848010-123849209 [Gene]
  • LOC126860490:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:123874507-123875706 [Gene]
  • LOC126860495:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:125632749-125633948 [Gene]
  • LOC126860502:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:126691873-126693072 [Gene]
  • LOC126860503:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:127059506-127060705 [Gene]
  • LOC126860506:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:128352096-128353295 [Gene]
  • LOC126860508:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:128754894-128756093 [Gene]
  • LOC126860511:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:129179416-129180615 [Gene]
  • LOC126860512:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:129799489-129800688 [Gene]
  • LOC126860518:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:130722337-130723536 [Gene]
  • LOC126860519:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:131540148-131541347 [Gene]
  • LOC126860520:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:131739458-131740657 [Gene]
  • LOC126860531:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:134259869-134261068 [Gene]
  • LOC126860533:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:135593335-135594534 [Gene]
  • LOC126860534:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:135976682-135977881 [Gene]
  • LOC108281119:COLEC10 intron CAGE-defined low expression enhancer [Gene]
  • LOC124188234:CRISPRi-validated CCDC26 and MYC e5 enhancer [Gene]
  • LOC128598890:CRISPRi-validated CCDC26, MYC and PVT1 e6 enhancer [Gene]
  • LOC128598891:CRISPRi-validated CCDC26, MYC and PVT1 e7 enhancer [Gene]
  • LOC128598887:CRISPRi-validated MYC e1 enhancer [Gene]
  • LOC128598888:CRISPRi-validated MYC e2 enhancer [Gene]
  • LOC128598889:CRISPRi-validated MYC e3 enhancer [Gene]
  • LOC127460344:CRISPRi-validated MYC e4 enhancer [Gene]
  • CYRIB:CYFIP related Rac1 interactor B [Gene - OMIM - HGNC]
  • DEPTOR:DEP domain containing MTOR interacting protein [Gene - OMIM - HGNC]
  • DSCC1:DNA replication and sister chromatid cohesion 1 [Gene - OMIM - HGNC]
  • EFR3A:EFR3 homolog A [Gene - OMIM - HGNC]
  • LOC108491824:EXT1 intron enhancer-blocking element 8-1-1 [Gene]
  • FBXO32:F-box protein 32 [Gene - OMIM - HGNC]
  • FAM83A-AS1:FAM83A antisense RNA 1 [Gene - HGNC]
  • FER1L6-AS1:FER1L6 antisense RNA 1 [Gene - HGNC]
  • FER1L6-AS2:FER1L6 antisense RNA 2 [Gene - HGNC]
  • HAS2-AS1:HAS2 antisense RNA 1 [Gene - OMIM - HGNC]
  • HHLA1:HHLA1 neighbor of OC90 [Gene - OMIM - HGNC]
  • LOC111365183:HNF1 motif-containing MPRA enhancer 31 [Gene]
  • LOC111556135:HNF1 motif-containing MPRA enhancer 57 [Gene]
  • HPYR1:Helicobacter pylori responsive 1 [Gene - HGNC]
  • KHDRBS3:KH RNA binding domain containing, signal transduction associated 3 [Gene - OMIM - HGNC]
  • LRATD2:LRAT domain containing 2 [Gene - OMIM - HGNC]
  • MAL2-AS1:MAL2 antisense RNA 1 [Gene - HGNC]
  • MTBP:MDM2 binding protein [Gene - OMIM - HGNC]
  • LOC126860481:MED14-independent group 3 enhancer GRCh37_chr8:120181673-120182872 [Gene]
  • LOC126860507:MED14-independent group 3 enhancer GRCh37_chr8:128672691-128673890 [Gene]
  • LOC126860509:MED14-independent group 3 enhancer GRCh37_chr8:128866418-128867617 [Gene]
  • LOC126860510:MED14-independent group 3 enhancer GRCh37_chr8:129077402-129078601 [Gene]
  • LOC126860514:MED14-independent group 3 enhancer GRCh37_chr8:129995267-129996466 [Gene]
  • LOC126860523:MED14-independent group 3 enhancer GRCh37_chr8:132798484-132799683 [Gene]
  • LOC126860525:MED14-independent group 3 enhancer GRCh37_chr8:133036851-133038050 [Gene]
  • LOC126860526:MED14-independent group 3 enhancer GRCh37_chr8:133358485-133359684 [Gene]
  • MIR30DHG:MIR30D and MIR30B host gene [Gene - HGNC]
  • LOC129390042:MPRA-validated peak7153 silencer [Gene]
  • LOC129390043:MPRA-validated peak7156 silencer [Gene]
  • LOC129390044:MPRA-validated peak7157 silencer [Gene]
  • LOC129390045:MPRA-validated peak7161 silencer [Gene]
  • LOC129390046:MPRA-validated peak7162 silencer [Gene]
  • LOC129390047:MPRA-validated peak7163 silencer [Gene]
  • LOC129390048:MPRA-validated peak7166 silencer [Gene]
  • LOC129390049:MPRA-validated peak7170 silencer [Gene]
  • LOC129390050:MPRA-validated peak7171 silencer [Gene]
  • LOC129390051:MPRA-validated peak7173 silencer [Gene]
  • LOC129390052:MPRA-validated peak7175 silencer [Gene]
  • LOC129390053:MPRA-validated peak7177 silencer [Gene]
  • LOC129390054:MPRA-validated peak7178 silencer [Gene]
  • LOC129390055:MPRA-validated peak7183 silencer [Gene]
  • MTSS1:MTSS I-BAR domain containing 1 [Gene - OMIM - HGNC]
  • MYC:MYC proto-oncogene, bHLH transcription factor [Gene - OMIM - HGNC]
  • NDRG1:N-myc downstream regulated 1 [Gene - OMIM - HGNC]
  • NTAQ1:N-terminal glutamine amidase 1 [Gene - HGNC]
  • NDUFB9:NADH:ubiquinone oxidoreductase subunit B9 [Gene - OMIM - HGNC]
  • LOC111589211:NFE2L2 motif-containing MPRA enhancer 239 [Gene]
  • LOC111365157:NFE2L2 motif-containing MPRA enhancer 33 [Gene]
  • NSMCE2:NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase [Gene - OMIM - HGNC]
  • LOC132089557:Neanderthal introgressed variant-containing enhancer experimental_101181 [Gene]
  • LOC132089558:Neanderthal introgressed variant-containing enhancer experimental_101228 [Gene]
  • LOC132089559:Neanderthal introgressed variant-containing enhancer experimental_101271 [Gene]
  • LOC132089560:Neanderthal introgressed variant-containing enhancer experimental_101278 [Gene]
  • LOC126860476:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:116981560-116982759 [Gene]
  • LOC126860478:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:119030582-119031781 [Gene]
  • LOC126860479:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:119451504-119452703 [Gene]
  • LOC126860482:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:120218741-120219940 [Gene]
  • LOC126860488:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:123817802-123819001 [Gene]
  • LOC126860491:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:124000413-124001612 [Gene]
  • LOC126860494:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:125283358-125284557 [Gene]
  • LOC126860498:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:126043836-126045035 [Gene]
  • LOC126860500:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:126525111-126526310 [Gene]
  • LOC126860501:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:126667345-126668544 [Gene]
  • LOC126860504:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:127155224-127156423 [Gene]
  • LOC121331312:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:129566785-129567984 [Gene]
  • LOC126860517:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:130719165-130720364 [Gene]
  • LOC126860522:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:132230433-132231632 [Gene]
  • LOC126860524:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:132868859-132870058 [Gene]
  • LOC126860528:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134194436-134195635 [Gene]
  • LOC126860529:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134224019-134225218 [Gene]
  • LOC126860530:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134229946-134231145 [Gene]
  • LOC126860532:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134305980-134307179 [Gene]
  • PHF20L1:PHD finger protein 20 like 1 [Gene - OMIM - HGNC]
  • POU5F1B:POU class 5 homeobox 1B [Gene - OMIM - HGNC]
  • LOC108254690:PVT1 intron CAGE-defined low expression enhancer [Gene]
  • PVT1:Pvt1 oncogene [Gene - OMIM - HGNC]
  • RAD21-AS1:RAD21 antisense RNA 1 [Gene - HGNC]
  • RAD21:RAD21 cohesin complex component [Gene - OMIM - HGNC]
  • RNF139-DT:RNF139 divergent transcript [Gene - HGNC]
  • SAMD12-AS1:SAMD12 antisense RNA 1 [Gene - HGNC]
  • SQLE-DT:SQLE divergent transcript [Gene - HGNC]
  • ST3GAL1:ST3 beta-galactoside alpha-2,3-sialyltransferase 1 [Gene - OMIM - HGNC]
  • ST3GAL1-DT:ST3GAL1 divergent transcript [Gene - HGNC]
  • LOC121740729:Sharpr-MPRA regulatory region 10356 [Gene]
  • LOC121331310:Sharpr-MPRA regulatory region 10947 [Gene]
  • LOC113788251:Sharpr-MPRA regulatory region 11925 [Gene]
  • LOC124188220:Sharpr-MPRA regulatory region 12119 [Gene]
  • LOC113788258:Sharpr-MPRA regulatory region 13712 [Gene]
  • LOC124188218:Sharpr-MPRA regulatory region 1385 [Gene]
  • LOC113788249:Sharpr-MPRA regulatory region 1392 [Gene]
  • LOC121740731:Sharpr-MPRA regulatory region 14038 [Gene]
  • LOC124188221:Sharpr-MPRA regulatory region 14070 [Gene]
  • LOC124188206:Sharpr-MPRA regulatory region 14285 [Gene]
  • LOC124188212:Sharpr-MPRA regulatory region 14891 [Gene]
  • LOC124188217:Sharpr-MPRA regulatory region 15016 [Gene]
  • LOC124188210:Sharpr-MPRA regulatory region 15323 [Gene]
  • LOC124188219:Sharpr-MPRA regulatory region 15371 [Gene]
  • LOC121740728:Sharpr-MPRA regulatory region 15420 [Gene]
  • LOC124188230:Sharpr-MPRA regulatory region 15510 [Gene]
  • LOC124188215:Sharpr-MPRA regulatory region 1583 [Gene]
  • LOC121740732:Sharpr-MPRA regulatory region 1737 [Gene]
  • LOC113788254:Sharpr-MPRA regulatory region 2006 [Gene]
  • LOC113788255:Sharpr-MPRA regulatory region 2045 [Gene]
  • LOC113788248:Sharpr-MPRA regulatory region 238 [Gene]
  • LOC121331311:Sharpr-MPRA regulatory region 2557 [Gene]
  • LOC124188222:Sharpr-MPRA regulatory region 2678 [Gene]
  • LOC113788252:Sharpr-MPRA regulatory region 2746 [Gene]
  • LOC124188211:Sharpr-MPRA regulatory region 2819 [Gene]
  • LOC113788247:Sharpr-MPRA regulatory region 2988 [Gene]
  • LOC113788257:Sharpr-MPRA regulatory region 3250 [Gene]
  • LOC124188237:Sharpr-MPRA regulatory region 3770 [Gene]
  • LOC124188233:Sharpr-MPRA regulatory region 4396 [Gene]
  • LOC113788253:Sharpr-MPRA regulatory region 4427 [Gene]
  • LOC124188228:Sharpr-MPRA regulatory region 547 [Gene]
  • LOC124188235:Sharpr-MPRA regulatory region 603 [Gene]
  • LOC113788256:Sharpr-MPRA regulatory region 6197 [Gene]
  • LOC124188227:Sharpr-MPRA regulatory region 6550 [Gene]
  • LOC124188224:Sharpr-MPRA regulatory region 6874 [Gene]
  • LOC121740726:Sharpr-MPRA regulatory region 6921 [Gene]
  • LOC124188208:Sharpr-MPRA regulatory region 7200 [Gene]
  • LOC124188213:Sharpr-MPRA regulatory region 7296 [Gene]
  • LOC124188209:Sharpr-MPRA regulatory region 7316 [Gene]
  • LOC124188231:Sharpr-MPRA regulatory region 7 [Gene]
  • LOC124188223:Sharpr-MPRA regulatory region 8202 [Gene]
  • LOC124188225:Sharpr-MPRA regulatory region 8491 [Gene]
  • LOC124188207:Sharpr-MPRA regulatory region 8624 [Gene]
  • LOC124188226:Sharpr-MPRA regulatory region 8664 [Gene]
  • LOC124174319:Sharpr-MPRA regulatory region 9276 [Gene]
  • LOC121740727:Sharpr-MPRA regulatory region 9283 [Gene]
  • LOC121740733:Sharpr-MPRA regulatory region 9765 [Gene]
  • LOC124188236:Sharpr-MPRA regulatory region 9796 [Gene]
  • LOC124188229:Sharpr-MPRA regulatory region 9947 [Gene]
  • SLA:Src like adaptor [Gene - OMIM - HGNC]
  • TAF2:TATA-box binding protein associated factor 2 [Gene - OMIM - HGNC]
  • TBC1D31:TBC1 domain family member 31 [Gene - HGNC]
  • TNFRSF11B:TNF receptor superfamily member 11b [Gene - OMIM - HGNC]
  • TRIB1AL:TRIB1 associated lncRNA [Gene - HGNC]
  • TATDN1:TatD DNase domain containing 1 [Gene - OMIM - HGNC]
  • UTP23:UTP23 small subunit processome component [Gene - HGNC]
  • LOC110121123:VISTA enhancer hs1482 [Gene]
  • LOC110121191:VISTA enhancer hs1709 [Gene]
  • LOC110121217:VISTA enhancer hs1877 [Gene]
  • LOC114827840:VISTA enhancer hs2563 [Gene]
  • WASHC5:WASH complex subunit 5 [Gene - OMIM - HGNC]
  • WASHC5-AS1:WASHC5 antisense RNA 1 [Gene - HGNC]
  • ZFAT-AS1:ZFAT antisense RNA 1 [Gene - HGNC]
  • ZHX1-C8orf76:ZHX1-C8orf76 readthrough [Gene - HGNC]
  • ADCY8:adenylate cyclase 8 [Gene - OMIM - HGNC]
  • AARD:alanine and arginine rich domain containing protein [Gene - HGNC]
  • ANXA13:annexin A13 [Gene - OMIM - HGNC]
  • CASC11:cancer susceptibility 11 [Gene - OMIM - HGNC]
  • CASC19:cancer susceptibility 19 [Gene - OMIM - HGNC]
  • CASC21:cancer susceptibility 21 [Gene - OMIM - HGNC]
  • CASC8:cancer susceptibility 8 [Gene - OMIM - HGNC]
  • CCN3:cellular communication network factor 3 [Gene - OMIM - HGNC]
  • CCN4:cellular communication network factor 4 [Gene - OMIM - HGNC]
  • C8orf76:chromosome 8 open reading frame 76 [Gene - HGNC]
  • COL14A1:collagen type XIV alpha 1 chain [Gene - OMIM - HGNC]
  • COLEC10:collectin subfamily member 10 [Gene - OMIM - HGNC]
  • CCAT1:colon cancer associated transcript 1 [Gene - OMIM - HGNC]
  • CCAT2:colon cancer associated transcript 2 [Gene - OMIM - HGNC]
  • DERL1:derlin 1 [Gene - OMIM - HGNC]
  • DNAAF11:dynein axonemal assembly factor 11 [Gene - OMIM - HGNC]
  • ENPP2:ectonucleotide pyrophosphatase/phosphodiesterase 2 [Gene - OMIM - HGNC]
  • EIF3H:eukaryotic translation initiation factor 3 subunit H [Gene - OMIM - HGNC]
  • EXT1:exostosin glycosyltransferase 1 [Gene - OMIM - HGNC]
  • FAM83A:family with sequence similarity 83 member A [Gene - HGNC]
  • FAM91A1:family with sequence similarity 91 member A1 [Gene - HGNC]
  • FER1L6:fer-1 like family member 6 [Gene - HGNC]
  • GSDMC:gasdermin C [Gene - OMIM - HGNC]
  • HAS2:hyaluronan synthase 2 [Gene - OMIM - HGNC]
  • KLHL38:kelch like family member 38 [Gene - HGNC]
  • LINC01151:long intergenic non-protein coding RNA 1151 [Gene - HGNC]
  • LINC01591:long intergenic non-protein coding RNA 1591 [Gene - HGNC]
  • LINC02855:long intergenic non-protein coding RNA 2855 [Gene - HGNC]
  • LINC02912:long intergenic non-protein coding RNA 2912 [Gene - HGNC]
  • LINC02964:long intergenic non-protein coding RNA 2964 [Gene - HGNC]
  • LINC03024:long intergenic non-protein coding RNA 3024 [Gene - HGNC]
  • LINC00536:long intergenic non-protein coding RNA 536 [Gene - HGNC]
  • LINC00824:long intergenic non-protein coding RNA 824 [Gene - HGNC]
  • LINC00861:long intergenic non-protein coding RNA 861 [Gene - HGNC]
  • LINC00964:long intergenic non-protein coding RNA 964 [Gene - HGNC]
  • LINC00976:long intergenic non-protein coding RNA 976 [Gene - HGNC]
  • LINC00977:long intergenic non-protein coding RNA 977 [Gene - HGNC]
  • MAL2:mal, T cell differentiation protein 2 [Gene - OMIM - HGNC]
  • MED30:mediator complex subunit 30 [Gene - OMIM - HGNC]
  • MIR1204:microRNA 1204 [Gene - HGNC]
  • MIR1205:microRNA 1205 [Gene - HGNC]
  • MIR1206:microRNA 1206 [Gene - HGNC]
  • MIR1207:microRNA 1207 [Gene - HGNC]
  • MIR1208:microRNA 1208 [Gene - HGNC]
  • MIR30B:microRNA 30b [Gene - OMIM - HGNC]
  • MIR30D:microRNA 30d [Gene - OMIM - HGNC]
  • MIR3610:microRNA 3610 [Gene - HGNC]
  • MIR3686:microRNA 3686 [Gene - HGNC]
  • MIR4662A:microRNA 4662a [Gene - HGNC]
  • MIR4662B:microRNA 4662b [Gene - HGNC]
  • MIR4663:microRNA 4663 [Gene - HGNC]
  • MIR5194:microRNA 5194 [Gene - HGNC]
  • MIR548AA1:microRNA 548aa-1 [Gene - HGNC]
  • MIR548AZ:microRNA 548az [Gene - HGNC]
  • MIR548D1:microRNA 548d-1 [Gene - HGNC]
  • MIR6844:microRNA 6844 [Gene - HGNC]
  • MIR7848:microRNA 7848 [Gene - HGNC]
  • MRPL13:mitochondrial ribosomal protein L13 [Gene - OMIM - HGNC]
  • NCRNA00250:non-protein coding RNA 250 [Gene]
  • LOC106867047:origin of replication upstream of MYC [Gene]
  • OC90:otoconin 90 [Gene - OMIM - HGNC]
  • PTCSC1:papillary thyroid carcinoma susceptibility candidate 1 [Gene - OMIM - HGNC]
  • KCNQ3:potassium voltage-gated channel subfamily Q member 3 [Gene - OMIM - HGNC]
  • PRNCR1:prostate cancer associated non-coding RNA 1 [Gene - OMIM - HGNC]
  • PCAT1:prostate cancer associated transcript 1 [Gene - OMIM - HGNC]
  • PCAT2:prostate cancer associated transcript 2 [Gene - OMIM - HGNC]
  • RNF139:ring finger protein 139 [Gene - OMIM - HGNC]
  • SNORD168:small nucleolar RNA, C/D box 168 [Gene - HGNC]
  • SMILR:smooth muscle induced lncRNA, enhancer of proliferation [Gene - HGNC]
  • SLC30A8:solute carrier family 30 member 8 [Gene - OMIM - HGNC]
  • SQLE:squalene epoxidase [Gene - OMIM - HGNC]
  • SAMD12:sterile alpha motif domain containing 12 [Gene - OMIM - HGNC]
  • SNTB1:syntrophin beta 1 [Gene - OMIM - HGNC]
  • TRMT12:tRNA methyltransferase 12 homolog [Gene - OMIM - HGNC]
  • TRM-CAT1-1:tRNA-Met (anticodon CAT) 1-1 [Gene - HGNC]
  • TG:thyroglobulin [Gene - OMIM - HGNC]
  • TRPS1:transcriptional repressor GATA binding 1 [Gene - OMIM - HGNC]
  • TMEM65:transmembrane protein 65 [Gene - OMIM - HGNC]
  • TMEM71:transmembrane protein 71 [Gene - OMIM - HGNC]
  • TRIB1:tribbles pseudokinase 1 [Gene - OMIM - HGNC]
  • LOC101927513:uncharacterized LOC101927513 [Gene]
  • LOC101927543:uncharacterized LOC101927543 [Gene]
  • LOC101927588:uncharacterized LOC101927588 [Gene]
  • LOC101927657:uncharacterized LOC101927657 [Gene]
  • LOC101927798:uncharacterized LOC101927798 [Gene]
  • LOC101927822:uncharacterized LOC101927822 [Gene]
  • LOC101927845:uncharacterized LOC101927845 [Gene]
  • LOC105375713:uncharacterized LOC105375713 [Gene]
  • LOC105375742:uncharacterized LOC105375742 [Gene]
  • LOC105375743:uncharacterized LOC105375743 [Gene]
  • LOC105375747:uncharacterized LOC105375747 [Gene]
  • LOC105375750:uncharacterized LOC105375750 [Gene]
  • LOC105375751:uncharacterized LOC105375751 [Gene]
  • LOC105375759:uncharacterized LOC105375759 [Gene]
  • ZFAT:zinc finger and AT-hook domain containing [Gene - OMIM - HGNC]
  • ZNF572:zinc finger protein 572 [Gene - HGNC]
  • ZHX1:zinc fingers and homeoboxes 1 [Gene - OMIM - HGNC]
  • ZHX2:zinc fingers and homeoboxes 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8q23.3-24.23
Genomic location:
Chr8: 115586904 - 135607135 (on Assembly GRCh38)
Preferred name:
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3
HGVS:

    Condition(s)

    Name:
    Neurodevelopmental disorder
    Identifiers:
    MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004034267Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Aug 24, 2023)     		de novoresearch

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyesnot providednot providednot providednot providednot providedresearch

    Citations

    PubMed

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV004034267.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedresearch PubMed (1)

    Description

    A confirmed de novo heterozygous duplication of 8q23.3-q24.23 encompassing 72 genes (https://genescout.omim.org/) was identified by exome sequencing in one individual with agenesis of corpus callosum ([GRCh38] chr8:115586904_135607135x3). These breakpoints have been estimated by exome sequencing only and therefore may not reflect the true breakpoints. The patient phenotype is nonspecific, but is consistent with cases described in the literature and/or published databases with overlapping variants. There are no known triplosensitive genes contained within the duplicated region, but a triplosensitivity predictor suggests that at least one gene (NSMCE2) included in this duplication is triplosensitive (https://www.deciphergenomics.org/). In summary, the 8q23.3-q24.23 duplication meets criteria to be classified as pathogenic. The ACMG/ClinGen evidence codes and points used in this curation are as follows: 1: 0 points, 2: 0 points, 3: 0.90 points, 4-5: 0.15 points; Total: 1.05 points; Riggs 2020 (PMID: 31690835).

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Mar 30, 2024