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GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 AND Microcephaly

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:
RCV003327707.3

Allele description [Variation Report for GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1]

GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1

Genes:
  • ADAMDEC1:ADAM like decysin 1 [Gene - OMIM - HGNC]
  • ADAM28:ADAM metallopeptidase domain 28 [Gene - OMIM - HGNC]
  • ADAM7:ADAM metallopeptidase domain 7 [Gene - OMIM - HGNC]
  • ADAM7-AS2:ADAM7 antisense RNA 2 [Gene - HGNC]
  • ADAM7-AS1:ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1 [Gene - HGNC]
  • ASAH1-AS1:ASAH1 antisense RNA 1 [Gene - HGNC]
  • LOC129999917:ATAC-STARR-seq lymphoblastoid active region 27042 [Gene]
  • LOC129999920:ATAC-STARR-seq lymphoblastoid active region 27043 [Gene]
  • LOC129999921:ATAC-STARR-seq lymphoblastoid active region 27044 [Gene]
  • LOC129999922:ATAC-STARR-seq lymphoblastoid active region 27045 [Gene]
  • LOC129999928:ATAC-STARR-seq lymphoblastoid active region 27046 [Gene]
  • LOC129999932:ATAC-STARR-seq lymphoblastoid active region 27047 [Gene]
  • LOC129999936:ATAC-STARR-seq lymphoblastoid active region 27048 [Gene]
  • LOC129999937:ATAC-STARR-seq lymphoblastoid active region 27049 [Gene]
  • LOC129999938:ATAC-STARR-seq lymphoblastoid active region 27050 [Gene]
  • LOC129999939:ATAC-STARR-seq lymphoblastoid active region 27051 [Gene]
  • LOC129999941:ATAC-STARR-seq lymphoblastoid active region 27053 [Gene]
  • LOC129999944:ATAC-STARR-seq lymphoblastoid active region 27055 [Gene]
  • LOC129999945:ATAC-STARR-seq lymphoblastoid active region 27056 [Gene]
  • LOC129999946:ATAC-STARR-seq lymphoblastoid active region 27057 [Gene]
  • LOC129999947:ATAC-STARR-seq lymphoblastoid active region 27058 [Gene]
  • LOC129999949:ATAC-STARR-seq lymphoblastoid active region 27059 [Gene]
  • LOC129999950:ATAC-STARR-seq lymphoblastoid active region 27060 [Gene]
  • LOC129999952:ATAC-STARR-seq lymphoblastoid active region 27061 [Gene]
  • LOC129999953:ATAC-STARR-seq lymphoblastoid active region 27062 [Gene]
  • LOC129999954:ATAC-STARR-seq lymphoblastoid active region 27063 [Gene]
  • LOC129999956:ATAC-STARR-seq lymphoblastoid active region 27064 [Gene]
  • LOC129999957:ATAC-STARR-seq lymphoblastoid active region 27065 [Gene]
  • LOC129999959:ATAC-STARR-seq lymphoblastoid active region 27066 [Gene]
  • LOC129999960:ATAC-STARR-seq lymphoblastoid active region 27067 [Gene]
  • LOC129999961:ATAC-STARR-seq lymphoblastoid active region 27068 [Gene]
  • LOC129999963:ATAC-STARR-seq lymphoblastoid active region 27069 [Gene]
  • LOC129999965:ATAC-STARR-seq lymphoblastoid active region 27070 [Gene]
  • LOC129999966:ATAC-STARR-seq lymphoblastoid active region 27071 [Gene]
  • LOC129999967:ATAC-STARR-seq lymphoblastoid active region 27075 [Gene]
  • LOC129999972:ATAC-STARR-seq lymphoblastoid active region 27076 [Gene]
  • LOC129999978:ATAC-STARR-seq lymphoblastoid active region 27078 [Gene]
  • LOC129999981:ATAC-STARR-seq lymphoblastoid active region 27079 [Gene]
  • LOC129999983:ATAC-STARR-seq lymphoblastoid active region 27081 [Gene]
  • LOC129999994:ATAC-STARR-seq lymphoblastoid active region 27082 [Gene]
  • LOC129999998:ATAC-STARR-seq lymphoblastoid active region 27086 [Gene]
  • LOC130000004:ATAC-STARR-seq lymphoblastoid active region 27087 [Gene]
  • LOC130000005:ATAC-STARR-seq lymphoblastoid active region 27088 [Gene]
  • LOC130000006:ATAC-STARR-seq lymphoblastoid active region 27089 [Gene]
  • LOC130000007:ATAC-STARR-seq lymphoblastoid active region 27090 [Gene]
  • LOC130000008:ATAC-STARR-seq lymphoblastoid active region 27092 [Gene]
  • LOC130000009:ATAC-STARR-seq lymphoblastoid active region 27093 [Gene]
  • LOC130000010:ATAC-STARR-seq lymphoblastoid active region 27094 [Gene]
  • LOC130000011:ATAC-STARR-seq lymphoblastoid active region 27095 [Gene]
  • LOC130000013:ATAC-STARR-seq lymphoblastoid active region 27096 [Gene]
  • LOC130000015:ATAC-STARR-seq lymphoblastoid active region 27097 [Gene]
  • LOC130000016:ATAC-STARR-seq lymphoblastoid active region 27100 [Gene]
  • LOC130000020:ATAC-STARR-seq lymphoblastoid active region 27102 [Gene]
  • LOC130000021:ATAC-STARR-seq lymphoblastoid active region 27107 [Gene]
  • LOC130000023:ATAC-STARR-seq lymphoblastoid active region 27108 [Gene]
  • LOC130000024:ATAC-STARR-seq lymphoblastoid active region 27109 [Gene]
  • LOC130000025:ATAC-STARR-seq lymphoblastoid active region 27110 [Gene]
  • LOC130000026:ATAC-STARR-seq lymphoblastoid active region 27111 [Gene]
  • LOC130000027:ATAC-STARR-seq lymphoblastoid active region 27113 [Gene]
  • LOC130000029:ATAC-STARR-seq lymphoblastoid active region 27114 [Gene]
  • LOC130000031:ATAC-STARR-seq lymphoblastoid active region 27115 [Gene]
  • LOC130000032:ATAC-STARR-seq lymphoblastoid active region 27116 [Gene]
  • LOC130000034:ATAC-STARR-seq lymphoblastoid active region 27119 [Gene]
  • LOC130000037:ATAC-STARR-seq lymphoblastoid active region 27120 [Gene]
  • LOC130000038:ATAC-STARR-seq lymphoblastoid active region 27121 [Gene]
  • LOC130000047:ATAC-STARR-seq lymphoblastoid active region 27123 [Gene]
  • LOC130000048:ATAC-STARR-seq lymphoblastoid active region 27124 [Gene]
  • LOC130000051:ATAC-STARR-seq lymphoblastoid active region 27125 [Gene]
  • LOC130000054:ATAC-STARR-seq lymphoblastoid active region 27126 [Gene]
  • LOC130000056:ATAC-STARR-seq lymphoblastoid active region 27127 [Gene]
  • LOC130000060:ATAC-STARR-seq lymphoblastoid active region 27128 [Gene]
  • LOC130000061:ATAC-STARR-seq lymphoblastoid active region 27129 [Gene]
  • LOC130000063:ATAC-STARR-seq lymphoblastoid active region 27130 [Gene]
  • LOC130000064:ATAC-STARR-seq lymphoblastoid active region 27131 [Gene]
  • LOC130000065:ATAC-STARR-seq lymphoblastoid active region 27132 [Gene]
  • LOC130000066:ATAC-STARR-seq lymphoblastoid active region 27133 [Gene]
  • LOC130000067:ATAC-STARR-seq lymphoblastoid active region 27134 [Gene]
  • LOC130000069:ATAC-STARR-seq lymphoblastoid active region 27135 [Gene]
  • LOC130000070:ATAC-STARR-seq lymphoblastoid active region 27136 [Gene]
  • LOC130000071:ATAC-STARR-seq lymphoblastoid active region 27138 [Gene]
  • LOC130000073:ATAC-STARR-seq lymphoblastoid active region 27139 [Gene]
  • LOC130000075:ATAC-STARR-seq lymphoblastoid active region 27140 [Gene]
  • LOC130000076:ATAC-STARR-seq lymphoblastoid active region 27141 [Gene]
  • LOC130000077:ATAC-STARR-seq lymphoblastoid active region 27143 [Gene]
  • LOC130000078:ATAC-STARR-seq lymphoblastoid active region 27144 [Gene]
  • LOC130000079:ATAC-STARR-seq lymphoblastoid active region 27145 [Gene]
  • LOC130000080:ATAC-STARR-seq lymphoblastoid active region 27146 [Gene]
  • LOC130000081:ATAC-STARR-seq lymphoblastoid active region 27147 [Gene]
  • LOC130000082:ATAC-STARR-seq lymphoblastoid active region 27148 [Gene]
  • LOC130000083:ATAC-STARR-seq lymphoblastoid active region 27149 [Gene]
  • LOC130000084:ATAC-STARR-seq lymphoblastoid active region 27150 [Gene]
  • LOC130000085:ATAC-STARR-seq lymphoblastoid active region 27151 [Gene]
  • LOC130000086:ATAC-STARR-seq lymphoblastoid active region 27152 [Gene]
  • LOC130000087:ATAC-STARR-seq lymphoblastoid active region 27153 [Gene]
  • LOC130000090:ATAC-STARR-seq lymphoblastoid active region 27154 [Gene]
  • LOC130000091:ATAC-STARR-seq lymphoblastoid active region 27155 [Gene]
  • LOC130000092:ATAC-STARR-seq lymphoblastoid active region 27156 [Gene]
  • LOC130000094:ATAC-STARR-seq lymphoblastoid active region 27157 [Gene]
  • LOC130000095:ATAC-STARR-seq lymphoblastoid active region 27158 [Gene]
  • LOC130000096:ATAC-STARR-seq lymphoblastoid active region 27159 [Gene]
  • LOC130000097:ATAC-STARR-seq lymphoblastoid active region 27160 [Gene]
  • LOC130000099:ATAC-STARR-seq lymphoblastoid active region 27162 [Gene]
  • LOC130000100:ATAC-STARR-seq lymphoblastoid active region 27163 [Gene]
  • LOC130000101:ATAC-STARR-seq lymphoblastoid active region 27164 [Gene]
  • LOC130000102:ATAC-STARR-seq lymphoblastoid active region 27165 [Gene]
  • LOC130000104:ATAC-STARR-seq lymphoblastoid active region 27166 [Gene]
  • LOC130000105:ATAC-STARR-seq lymphoblastoid active region 27167 [Gene]
  • LOC130000106:ATAC-STARR-seq lymphoblastoid active region 27168 [Gene]
  • LOC130000112:ATAC-STARR-seq lymphoblastoid active region 27169 [Gene]
  • LOC130000113:ATAC-STARR-seq lymphoblastoid active region 27170 [Gene]
  • LOC130000114:ATAC-STARR-seq lymphoblastoid active region 27171 [Gene]
  • LOC130000115:ATAC-STARR-seq lymphoblastoid active region 27173 [Gene]
  • LOC130000116:ATAC-STARR-seq lymphoblastoid active region 27174 [Gene]
  • LOC130000123:ATAC-STARR-seq lymphoblastoid active region 27176 [Gene]
  • LOC130000124:ATAC-STARR-seq lymphoblastoid active region 27177 [Gene]
  • LOC130000125:ATAC-STARR-seq lymphoblastoid active region 27178 [Gene]
  • LOC130000126:ATAC-STARR-seq lymphoblastoid active region 27179 [Gene]
  • LOC130000127:ATAC-STARR-seq lymphoblastoid active region 27180 [Gene]
  • LOC130000128:ATAC-STARR-seq lymphoblastoid active region 27181 [Gene]
  • LOC130000129:ATAC-STARR-seq lymphoblastoid active region 27182 [Gene]
  • LOC130000130:ATAC-STARR-seq lymphoblastoid active region 27183 [Gene]
  • LOC130000133:ATAC-STARR-seq lymphoblastoid active region 27184 [Gene]
  • LOC130000136:ATAC-STARR-seq lymphoblastoid active region 27186 [Gene]
  • LOC130000137:ATAC-STARR-seq lymphoblastoid active region 27187 [Gene]
  • LOC130000138:ATAC-STARR-seq lymphoblastoid active region 27188 [Gene]
  • LOC130000139:ATAC-STARR-seq lymphoblastoid active region 27189 [Gene]
  • LOC130000140:ATAC-STARR-seq lymphoblastoid active region 27190 [Gene]
  • LOC130000141:ATAC-STARR-seq lymphoblastoid active region 27191 [Gene]
  • LOC130000142:ATAC-STARR-seq lymphoblastoid active region 27192 [Gene]
  • LOC130000143:ATAC-STARR-seq lymphoblastoid active region 27193 [Gene]
  • LOC130000144:ATAC-STARR-seq lymphoblastoid active region 27194 [Gene]
  • LOC130000145:ATAC-STARR-seq lymphoblastoid active region 27195 [Gene]
  • LOC130000146:ATAC-STARR-seq lymphoblastoid active region 27196 [Gene]
  • LOC130000147:ATAC-STARR-seq lymphoblastoid active region 27197 [Gene]
  • LOC130000148:ATAC-STARR-seq lymphoblastoid active region 27198 [Gene]
  • LOC130000149:ATAC-STARR-seq lymphoblastoid active region 27199 [Gene]
  • LOC130000150:ATAC-STARR-seq lymphoblastoid active region 27200 [Gene]
  • LOC130000151:ATAC-STARR-seq lymphoblastoid active region 27202 [Gene]
  • LOC130000153:ATAC-STARR-seq lymphoblastoid active region 27203 [Gene]
  • LOC130000154:ATAC-STARR-seq lymphoblastoid active region 27204 [Gene]
  • LOC130000155:ATAC-STARR-seq lymphoblastoid active region 27205 [Gene]
  • LOC130000156:ATAC-STARR-seq lymphoblastoid active region 27206 [Gene]
  • LOC130000157:ATAC-STARR-seq lymphoblastoid active region 27207 [Gene]
  • LOC130000158:ATAC-STARR-seq lymphoblastoid active region 27208 [Gene]
  • LOC130000160:ATAC-STARR-seq lymphoblastoid active region 27209 [Gene]
  • LOC129999918:ATAC-STARR-seq lymphoblastoid silent region 18950 [Gene]
  • LOC129999919:ATAC-STARR-seq lymphoblastoid silent region 18951 [Gene]
  • LOC129999923:ATAC-STARR-seq lymphoblastoid silent region 18955 [Gene]
  • LOC129999924:ATAC-STARR-seq lymphoblastoid silent region 18956 [Gene]
  • LOC129999925:ATAC-STARR-seq lymphoblastoid silent region 18957 [Gene]
  • LOC129999926:ATAC-STARR-seq lymphoblastoid silent region 18958 [Gene]
  • LOC129999927:ATAC-STARR-seq lymphoblastoid silent region 18959 [Gene]
  • LOC129999929:ATAC-STARR-seq lymphoblastoid silent region 18960 [Gene]
  • LOC129999930:ATAC-STARR-seq lymphoblastoid silent region 18961 [Gene]
  • LOC129999931:ATAC-STARR-seq lymphoblastoid silent region 18962 [Gene]
  • LOC129999933:ATAC-STARR-seq lymphoblastoid silent region 18963 [Gene]
  • LOC129999934:ATAC-STARR-seq lymphoblastoid silent region 18964 [Gene]
  • LOC129999935:ATAC-STARR-seq lymphoblastoid silent region 18965 [Gene]
  • LOC129999940:ATAC-STARR-seq lymphoblastoid silent region 18966 [Gene]
  • LOC129999942:ATAC-STARR-seq lymphoblastoid silent region 18967 [Gene]
  • LOC129999943:ATAC-STARR-seq lymphoblastoid silent region 18968 [Gene]
  • LOC129999948:ATAC-STARR-seq lymphoblastoid silent region 18969 [Gene]
  • LOC129999951:ATAC-STARR-seq lymphoblastoid silent region 18970 [Gene]
  • LOC129999955:ATAC-STARR-seq lymphoblastoid silent region 18971 [Gene]
  • LOC129999958:ATAC-STARR-seq lymphoblastoid silent region 18972 [Gene]
  • LOC129999962:ATAC-STARR-seq lymphoblastoid silent region 18973 [Gene]
  • LOC129999964:ATAC-STARR-seq lymphoblastoid silent region 18974 [Gene]
  • LOC129999968:ATAC-STARR-seq lymphoblastoid silent region 18975 [Gene]
  • LOC129999969:ATAC-STARR-seq lymphoblastoid silent region 18976 [Gene]
  • LOC129999970:ATAC-STARR-seq lymphoblastoid silent region 18977 [Gene]
  • LOC129999971:ATAC-STARR-seq lymphoblastoid silent region 18978 [Gene]
  • LOC129999973:ATAC-STARR-seq lymphoblastoid silent region 18979 [Gene]
  • LOC129999974:ATAC-STARR-seq lymphoblastoid silent region 18980 [Gene]
  • LOC129999975:ATAC-STARR-seq lymphoblastoid silent region 18981 [Gene]
  • LOC129999976:ATAC-STARR-seq lymphoblastoid silent region 18982 [Gene]
  • LOC129999977:ATAC-STARR-seq lymphoblastoid silent region 18984 [Gene]
  • LOC129999979:ATAC-STARR-seq lymphoblastoid silent region 18985 [Gene]
  • LOC129999980:ATAC-STARR-seq lymphoblastoid silent region 18986 [Gene]
  • LOC129999982:ATAC-STARR-seq lymphoblastoid silent region 18989 [Gene]
  • LOC129999984:ATAC-STARR-seq lymphoblastoid silent region 18990 [Gene]
  • LOC129999985:ATAC-STARR-seq lymphoblastoid silent region 18991 [Gene]
  • LOC129999986:ATAC-STARR-seq lymphoblastoid silent region 18994 [Gene]
  • LOC129999987:ATAC-STARR-seq lymphoblastoid silent region 18995 [Gene]
  • LOC129999988:ATAC-STARR-seq lymphoblastoid silent region 18996 [Gene]
  • LOC129999989:ATAC-STARR-seq lymphoblastoid silent region 18997 [Gene]
  • LOC129999990:ATAC-STARR-seq lymphoblastoid silent region 18998 [Gene]
  • LOC129999991:ATAC-STARR-seq lymphoblastoid silent region 18999 [Gene]
  • LOC129999992:ATAC-STARR-seq lymphoblastoid silent region 19000 [Gene]
  • LOC129999993:ATAC-STARR-seq lymphoblastoid silent region 19001 [Gene]
  • LOC129999995:ATAC-STARR-seq lymphoblastoid silent region 19003 [Gene]
  • LOC129999996:ATAC-STARR-seq lymphoblastoid silent region 19004 [Gene]
  • LOC129999997:ATAC-STARR-seq lymphoblastoid silent region 19006 [Gene]
  • LOC129999999:ATAC-STARR-seq lymphoblastoid silent region 19008 [Gene]
  • LOC130000000:ATAC-STARR-seq lymphoblastoid silent region 19009 [Gene]
  • LOC130000001:ATAC-STARR-seq lymphoblastoid silent region 19010 [Gene]
  • LOC130000002:ATAC-STARR-seq lymphoblastoid silent region 19011 [Gene]
  • LOC130000003:ATAC-STARR-seq lymphoblastoid silent region 19012 [Gene]
  • LOC130000012:ATAC-STARR-seq lymphoblastoid silent region 19013 [Gene]
  • LOC130000014:ATAC-STARR-seq lymphoblastoid silent region 19015 [Gene]
  • LOC130000017:ATAC-STARR-seq lymphoblastoid silent region 19017 [Gene]
  • LOC130000018:ATAC-STARR-seq lymphoblastoid silent region 19018 [Gene]
  • LOC130000019:ATAC-STARR-seq lymphoblastoid silent region 19019 [Gene]
  • LOC130000022:ATAC-STARR-seq lymphoblastoid silent region 19020 [Gene]
  • LOC130000028:ATAC-STARR-seq lymphoblastoid silent region 19022 [Gene]
  • LOC130000030:ATAC-STARR-seq lymphoblastoid silent region 19023 [Gene]
  • LOC130000033:ATAC-STARR-seq lymphoblastoid silent region 19024 [Gene]
  • LOC130000035:ATAC-STARR-seq lymphoblastoid silent region 19025 [Gene]
  • LOC130000036:ATAC-STARR-seq lymphoblastoid silent region 19026 [Gene]
  • LOC130000039:ATAC-STARR-seq lymphoblastoid silent region 19027 [Gene]
  • LOC130000040:ATAC-STARR-seq lymphoblastoid silent region 19028 [Gene]
  • LOC130000041:ATAC-STARR-seq lymphoblastoid silent region 19029 [Gene]
  • LOC130000042:ATAC-STARR-seq lymphoblastoid silent region 19030 [Gene]
  • LOC130000043:ATAC-STARR-seq lymphoblastoid silent region 19031 [Gene]
  • LOC130000044:ATAC-STARR-seq lymphoblastoid silent region 19032 [Gene]
  • LOC130000045:ATAC-STARR-seq lymphoblastoid silent region 19033 [Gene]
  • LOC130000046:ATAC-STARR-seq lymphoblastoid silent region 19034 [Gene]
  • LOC130000049:ATAC-STARR-seq lymphoblastoid silent region 19035 [Gene]
  • LOC130000050:ATAC-STARR-seq lymphoblastoid silent region 19036 [Gene]
  • LOC130000052:ATAC-STARR-seq lymphoblastoid silent region 19037 [Gene]
  • LOC130000053:ATAC-STARR-seq lymphoblastoid silent region 19038 [Gene]
  • LOC130000055:ATAC-STARR-seq lymphoblastoid silent region 19039 [Gene]
  • LOC130000057:ATAC-STARR-seq lymphoblastoid silent region 19040 [Gene]
  • LOC130000058:ATAC-STARR-seq lymphoblastoid silent region 19041 [Gene]
  • LOC130000059:ATAC-STARR-seq lymphoblastoid silent region 19042 [Gene]
  • LOC130000062:ATAC-STARR-seq lymphoblastoid silent region 19045 [Gene]
  • LOC130000068:ATAC-STARR-seq lymphoblastoid silent region 19046 [Gene]
  • LOC130000072:ATAC-STARR-seq lymphoblastoid silent region 19047 [Gene]
  • LOC130000074:ATAC-STARR-seq lymphoblastoid silent region 19048 [Gene]
  • LOC130000088:ATAC-STARR-seq lymphoblastoid silent region 19049 [Gene]
  • LOC130000089:ATAC-STARR-seq lymphoblastoid silent region 19050 [Gene]
  • LOC130000093:ATAC-STARR-seq lymphoblastoid silent region 19051 [Gene]
  • LOC130000098:ATAC-STARR-seq lymphoblastoid silent region 19052 [Gene]
  • LOC130000103:ATAC-STARR-seq lymphoblastoid silent region 19053 [Gene]
  • LOC130000107:ATAC-STARR-seq lymphoblastoid silent region 19054 [Gene]
  • LOC130000108:ATAC-STARR-seq lymphoblastoid silent region 19055 [Gene]
  • LOC130000109:ATAC-STARR-seq lymphoblastoid silent region 19056 [Gene]
  • LOC130000110:ATAC-STARR-seq lymphoblastoid silent region 19057 [Gene]
  • LOC130000111:ATAC-STARR-seq lymphoblastoid silent region 19058 [Gene]
  • LOC130000117:ATAC-STARR-seq lymphoblastoid silent region 19060 [Gene]
  • LOC130000118:ATAC-STARR-seq lymphoblastoid silent region 19062 [Gene]
  • LOC130000119:ATAC-STARR-seq lymphoblastoid silent region 19063 [Gene]
  • LOC130000120:ATAC-STARR-seq lymphoblastoid silent region 19064 [Gene]
  • LOC130000121:ATAC-STARR-seq lymphoblastoid silent region 19065 [Gene]
  • LOC130000122:ATAC-STARR-seq lymphoblastoid silent region 19066 [Gene]
  • LOC130000131:ATAC-STARR-seq lymphoblastoid silent region 19068 [Gene]
  • LOC130000132:ATAC-STARR-seq lymphoblastoid silent region 19069 [Gene]
  • LOC130000134:ATAC-STARR-seq lymphoblastoid silent region 19070 [Gene]
  • LOC130000135:ATAC-STARR-seq lymphoblastoid silent region 19072 [Gene]
  • LOC130000152:ATAC-STARR-seq lymphoblastoid silent region 19073 [Gene]
  • LOC130000159:ATAC-STARR-seq lymphoblastoid silent region 19074 [Gene]
  • LOC130000161:ATAC-STARR-seq lymphoblastoid silent region 19075 [Gene]
  • LOC130000162:ATAC-STARR-seq lymphoblastoid silent region 19076 [Gene]
  • ATP6V1B2:ATPase H+ transporting V1 subunit B2 [Gene - OMIM - HGNC]
  • BNIP3L:BCL2 interacting protein 3 like [Gene - OMIM - HGNC]
  • BIN3-IT1:BIN3 intronic transcript 1 [Gene - HGNC]
  • LOC126860306:BRD4-independent group 4 enhancer GRCh37_chr8:13223844-13225043 [Gene]
  • LOC126860310:BRD4-independent group 4 enhancer GRCh37_chr8:18522753-18523952 [Gene]
  • LOC126860311:BRD4-independent group 4 enhancer GRCh37_chr8:18696773-18697972 [Gene]
  • LOC126860316:BRD4-independent group 4 enhancer GRCh37_chr8:19522068-19523267 [Gene]
  • LOC126860317:BRD4-independent group 4 enhancer GRCh37_chr8:19589033-19590232 [Gene]
  • LOC126860319:BRD4-independent group 4 enhancer GRCh37_chr8:20269567-20270766 [Gene]
  • LOC121294075:BRD4-independent group 4 enhancer GRCh37_chr8:21349495-21350694 [Gene]
  • LOC126860323:BRD4-independent group 4 enhancer GRCh37_chr8:22048316-22049515 [Gene]
  • LOC113788269:BRD4-independent group 4 enhancer GRCh37_chr8:22052064-22053263 [Gene]
  • LOC113788271:BRD4-independent group 4 enhancer GRCh37_chr8:23618596-23619795 [Gene]
  • LOC126860329:BRD4-independent group 4 enhancer GRCh37_chr8:24244666-24245865 [Gene]
  • LOC126860330:BRD4-independent group 4 enhancer GRCh37_chr8:24811677-24812876 [Gene]
  • LOC126860332:BRD4-independent group 4 enhancer GRCh37_chr8:26239047-26240246 [Gene]
  • LOC126860333:BRD4-independent group 4 enhancer GRCh37_chr8:28130200-28131399 [Gene]
  • CNOT7:CCR4-NOT transcription complex subunit 7 [Gene - OMIM - HGNC]
  • LOC126860307:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:15041688-15042887 [Gene]
  • LOC126860309:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:17193352-17194551 [Gene]
  • LOC126860313:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:19051482-19052681 [Gene]
  • LOC126860315:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:19435762-19436961 [Gene]
  • LOC126860318:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:20021901-20023100 [Gene]
  • LOC126860320:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:20925197-20926396 [Gene]
  • LOC126860321:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:21024826-21026025 [Gene]
  • LOC126860322:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:21417498-21418697 [Gene]
  • LOC126860327:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:23655625-23656824 [Gene]
  • LOC126860328:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:23747587-23748786 [Gene]
  • LOC126860331:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:25336688-25337887 [Gene]
  • LOC126860337:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:29449049-29450248 [Gene]
  • LOC116186922:CRISPRi-validated cis-regulatory element chr8.526 [Gene]
  • LOC116186923:CRISPRi-validated cis-regulatory element chr8.740 [Gene]
  • LOC116186924:CRISPRi-validated cis-regulatory element chr8.847 [Gene]
  • LOC116186925:CRISPRi-validated cis-regulatory element chr8.973 [Gene]
  • DCTN6-DT:DCTN6 divergent transcript [Gene - HGNC]
  • DLC1:DLC1 Rho GTPase activating protein [Gene - OMIM - HGNC]
  • EBF2:EBF transcription factor 2 [Gene - OMIM - HGNC]
  • ENTPD4-DT:ENTPD4 divergent transcript [Gene - HGNC]
  • EXTL3-AS1:EXTL3 antisense RNA 1 [Gene - HGNC]
  • FBXO16:F-box protein 16 [Gene - OMIM - HGNC]
  • FHIP2B:FHF complex subunit HOOK interacting protein 2B [Gene - OMIM - HGNC]
  • LOC111465018:GATA motif-containing MPRA enhancer 260 [Gene]
  • GFRA2:GDNF family receptor alpha 2 [Gene - OMIM - HGNC]
  • HR:HR lysine demethylase and nuclear receptor corepressor [Gene - OMIM - HGNC]
  • HRURF:HR upstream open reading frame [Gene - OMIM - HGNC]
  • LONRF1:LON peptidase N-terminal domain and ring finger 1 [Gene - HGNC]
  • LOXL2-AS1:LOXL2 antisense RNA 1 [Gene - HGNC]
  • LZTS1-AS1:LZTS1 antisense RNA 1 [Gene - HGNC]
  • LOC126860305:MED14-independent group 3 enhancer GRCh37_chr8:12947375-12948574 [Gene]
  • LOC126860312:MED14-independent group 3 enhancer GRCh37_chr8:18797082-18798281 [Gene]
  • LOC126860314:MED14-independent group 3 enhancer GRCh37_chr8:19394183-19395382 [Gene]
  • LOC126860325:MED14-independent group 3 enhancer GRCh37_chr8:22601507-22602706 [Gene]
  • LOC126860335:MED14-independent group 3 enhancer GRCh37_chr8:29386565-29387764 [Gene]
  • LOC126860336:MED14-independent group 3 enhancer GRCh37_chr8:29412676-29413875 [Gene]
  • LOC126860338:MED14-independent group 3 enhancer GRCh37_chr8:29525986-29527185 [Gene]
  • LOC126860339:MED14-independent group 3 enhancer GRCh37_chr8:29627558-29628757 [Gene]
  • LOC126860340:MED14-independent group 3 enhancer GRCh37_chr8:29914456-29915655 [Gene]
  • LOC129389957:MPRA-validated peak6913 silencer [Gene]
  • LOC129389958:MPRA-validated peak6918 silencer [Gene]
  • LOC129389959:MPRA-validated peak6924 silencer [Gene]
  • LOC129389960:MPRA-validated peak6932 silencer [Gene]
  • LOC129389961:MPRA-validated peak6933 silencer [Gene]
  • LOC129389962:MPRA-validated peak6935 silencer [Gene]
  • LOC129389963:MPRA-validated peak6937 silencer [Gene]
  • LOC129389964:MPRA-validated peak6940 silencer [Gene]
  • LOC129389965:MPRA-validated peak6942 silencer [Gene]
  • LOC129389966:MPRA-validated peak6945 silencer [Gene]
  • LOC129389967:MPRA-validated peak6951 silencer [Gene]
  • LOC129389968:MPRA-validated peak6954 silencer [Gene]
  • LOC129389969:MPRA-validated peak6960 silencer [Gene]
  • LOC129389970:MPRA-validated peak6961 silencer [Gene]
  • LOC129389971:MPRA-validated peak6966 silencer [Gene]
  • LOC129389972:MPRA-validated peak6969 silencer [Gene]
  • LOC129389973:MPRA-validated peak6971 silencer [Gene]
  • LOC129389974:MPRA-validated peak6972 silencer [Gene]
  • LOC129389975:MPRA-validated peak6973 silencer [Gene]
  • MTUS1-DT:MTUS1 divergent transcript [Gene - HGNC]
  • NAT1:N-acetyltransferase 1 [Gene - OMIM - HGNC]
  • NAT2:N-acetyltransferase 2 [Gene - OMIM - HGNC]
  • ASAH1:N-acylsphingosine amidohydrolase 1 [Gene - OMIM - HGNC]
  • NKX2-6:NK2 homeobox 6 [Gene - OMIM - HGNC]
  • NKX3-1:NK3 homeobox 1 [Gene - OMIM - HGNC]
  • LOC132090783:Neanderthal introgressed variant-containing enhancer experimental_101206 [Gene]
  • LOC132089561:Neanderthal introgressed variant-containing enhancer experimental_101305 [Gene]
  • LOC132089562:Neanderthal introgressed variant-containing enhancer experimental_101359 [Gene]
  • LOC132089563:Neanderthal introgressed variant-containing enhancer experimental_101439 [Gene]
  • LOC132089564:Neanderthal introgressed variant-containing enhancer experimental_101469 [Gene]
  • LOC132089565:Neanderthal introgressed variant-containing enhancer experimental_101507 [Gene]
  • LOC132089566:Neanderthal introgressed variant-containing enhancer experimental_101599 [Gene]
  • LOC132089567:Neanderthal introgressed variant-containing enhancer experimental_101611 [Gene]
  • LOC132089568:Neanderthal introgressed variant-containing enhancer experimental_101653 [Gene]
  • LOC132089569:Neanderthal introgressed variant-containing enhancer experimental_101701 [Gene]
  • LOC132089570:Neanderthal introgressed variant-containing enhancer experimental_101766 [Gene]
  • LOC132089571:Neanderthal introgressed variant-containing enhancer experimental_101789 [Gene]
  • LOC132089572:Neanderthal introgressed variant-containing enhancer experimental_101818 [Gene]
  • LOC132089573:Neanderthal introgressed variant-containing enhancer experimental_101852 [Gene]
  • LOC132089574:Neanderthal introgressed variant-containing enhancer experimental_101878 [Gene]
  • LOC132089575:Neanderthal introgressed variant-containing enhancer experimental_101891 [Gene]
  • LOC132089576:Neanderthal introgressed variant-containing enhancer experimental_101912 [Gene]
  • LOC132089577:Neanderthal introgressed variant-containing enhancer experimental_101932 [Gene]
  • LOC132089578:Neanderthal introgressed variant-containing enhancer experimental_102128 [Gene]
  • LOC132089579:Neanderthal introgressed variant-containing enhancer experimental_102145 [Gene]
  • LOC132089580:Neanderthal introgressed variant-containing enhancer experimental_102166 [Gene]
  • LOC132089581:Neanderthal introgressed variant-containing enhancer experimental_102220 [Gene]
  • LOC132089582:Neanderthal introgressed variant-containing enhancer experimental_102343 [Gene]
  • LOC132089583:Neanderthal introgressed variant-containing enhancer experimental_102346 [Gene]
  • LOC132089584:Neanderthal introgressed variant-containing enhancer experimental_102562 [Gene]
  • LOC132089585:Neanderthal introgressed variant-containing enhancer experimental_102576 [Gene]
  • LOC132089586:Neanderthal introgressed variant-containing enhancer experimental_102632 [Gene]
  • LOC132089587:Neanderthal introgressed variant-containing enhancer experimental_102756 [Gene]
  • LOC132089588:Neanderthal introgressed variant-containing enhancer experimental_102784 [Gene]
  • LOC132089589:Neanderthal introgressed variant-containing enhancer experimental_102790 [Gene]
  • LOC132089590:Neanderthal introgressed variant-containing enhancer experimental_102823 [Gene]
  • LOC132089591:Neanderthal introgressed variant-containing enhancer experimental_102829 [Gene]
  • LOC132090784:Neanderthal introgressed variant-containing enhancer experimental_102832 [Gene]
  • LOC132089592:Neanderthal introgressed variant-containing enhancer experimental_102836 [Gene]
  • LOC132089593:Neanderthal introgressed variant-containing enhancer experimental_102848 [Gene]
  • LOC132090785:Neanderthal introgressed variant-containing enhancer experimental_102863 [Gene]
  • LOC132089594:Neanderthal introgressed variant-containing enhancer experimental_102872 [Gene]
  • LOC132089595:Neanderthal introgressed variant-containing enhancer experimental_102873 [Gene]
  • LOC132089597:Neanderthal introgressed variant-containing enhancer experimental_103076 [Gene]
  • LOC132205968:Neanderthal introgressed variant-containing enhancers experimental_101563 and experimental_101568 [Gene]
  • LOC132205969:Neanderthal introgressed variant-containing enhancers experimental_102032 and experimental_102034 [Gene]
  • LOC126860308:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:16683483-16684682 [Gene]
  • LOC126860324:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:22084886-22086085 [Gene]
  • LOC126860326:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:22921484-22922683 [Gene]
  • LOC126860334:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:28913988-28915187 [Gene]
  • PDLIM2:PDZ and LIM domain 2 [Gene - OMIM - HGNC]
  • PBK:PDZ binding kinase [Gene - OMIM - HGNC]
  • PIWIL2-DT:PIWIL2 divergent transcript [Gene - HGNC]
  • PNMA2:PNMA family member 2 [Gene - OMIM - HGNC]
  • R3HCC1:R3H domain and coiled-coil containing 1 [Gene - HGNC]
  • POLR3D:RNA polymerase III subunit D [Gene - OMIM - HGNC]
  • RHOBTB2:Rho related BTB domain containing 2 [Gene - OMIM - HGNC]
  • LOC108254664:SCARA5 intron CAGE-defined high expression enhancer [Gene]
  • SH2D4A:SH2 domain containing 4A [Gene - OMIM - HGNC]
  • LOC121294074:Sharpr-MPRA regulatory region 10012 [Gene]
  • LOC124110277:Sharpr-MPRA regulatory region 10035 [Gene]
  • LOC113788272:Sharpr-MPRA regulatory region 10080 [Gene]
  • LOC124153119:Sharpr-MPRA regulatory region 10265 [Gene]
  • LOC113788273:Sharpr-MPRA regulatory region 10341 [Gene]
  • LOC113788274:Sharpr-MPRA regulatory region 10380 [Gene]
  • LOC113788268:Sharpr-MPRA regulatory region 10631 [Gene]
  • LOC124153133:Sharpr-MPRA regulatory region 11135 [Gene]
  • LOC124153127:Sharpr-MPRA regulatory region 1118 [Gene]
  • LOC124153118:Sharpr-MPRA regulatory region 11422 [Gene]
  • LOC124153120:Sharpr-MPRA regulatory region 12029 [Gene]
  • LOC124153130:Sharpr-MPRA regulatory region 12075 [Gene]
  • LOC113788270:Sharpr-MPRA regulatory region 12406 [Gene]
  • LOC124153131:Sharpr-MPRA regulatory region 1267 [Gene]
  • LOC124153117:Sharpr-MPRA regulatory region 13343 [Gene]
  • LOC124153123:Sharpr-MPRA regulatory region 13358 [Gene]
  • LOC121331296:Sharpr-MPRA regulatory region 13363 [Gene]
  • LOC124153129:Sharpr-MPRA regulatory region 13890 [Gene]
  • LOC124049166:Sharpr-MPRA regulatory region 1393 [Gene]
  • LOC121740713:Sharpr-MPRA regulatory region 13991 [Gene]
  • LOC124110276:Sharpr-MPRA regulatory region 14094 [Gene]
  • LOC124153111:Sharpr-MPRA regulatory region 14364 [Gene]
  • LOC124153137:Sharpr-MPRA regulatory region 14750 [Gene]
  • LOC121740714:Sharpr-MPRA regulatory region 1589 [Gene]
  • LOC121294073:Sharpr-MPRA regulatory region 1875 [Gene]
  • LOC124153128:Sharpr-MPRA regulatory region 188 [Gene]
  • LOC124110275:Sharpr-MPRA regulatory region 2048 [Gene]
  • LOC124153112:Sharpr-MPRA regulatory region 2266 [Gene]
  • LOC124153126:Sharpr-MPRA regulatory region 2993 [Gene]
  • LOC124153121:Sharpr-MPRA regulatory region 3420 [Gene]
  • LOC121331297:Sharpr-MPRA regulatory region 3532 [Gene]
  • LOC121294076:Sharpr-MPRA regulatory region 3596 [Gene]
  • LOC124153136:Sharpr-MPRA regulatory region 3682 [Gene]
  • LOC124153114:Sharpr-MPRA regulatory region 4415 [Gene]
  • LOC113788275:Sharpr-MPRA regulatory region 4987 [Gene]
  • LOC121740712:Sharpr-MPRA regulatory region 6380 [Gene]
  • LOC121740711:Sharpr-MPRA regulatory region 6582 [Gene]
  • LOC124153116:Sharpr-MPRA regulatory region 772 [Gene]
  • LOC124153134:Sharpr-MPRA regulatory region 8281 [Gene]
  • LOC124153124:Sharpr-MPRA regulatory region 8456 [Gene]
  • LOC121331295:Sharpr-MPRA regulatory region 858 [Gene]
  • LOC124153135:Sharpr-MPRA regulatory region 8795 [Gene]
  • LOC124153132:Sharpr-MPRA regulatory region 9089 [Gene]
  • LOC124153122:Sharpr-MPRA regulatory region 9444 [Gene]
  • LOC124153125:Sharpr-MPRA regulatory region 9467 [Gene]
  • LOC124153115:Sharpr-MPRA regulatory region 9780 [Gene]
  • LOC124153113:Sharpr-MPRA regulatory region 9839 [Gene]
  • TNFRSF10A:TNF receptor superfamily member 10a [Gene - OMIM - HGNC]
  • TNFRSF10B:TNF receptor superfamily member 10b [Gene - OMIM - HGNC]
  • TNFRSF10C:TNF receptor superfamily member 10c [Gene - OMIM - HGNC]
  • TNFRSF10D:TNF receptor superfamily member 10d [Gene - OMIM - HGNC]
  • LOC111255645:TNFRSF10A 5' regulatory region [Gene]
  • TNFRSF10A-DT:TNFRSF10A divergent transcript [Gene - HGNC]
  • LOC111255642:TNFRSF10B 5' regulatory region [Gene]
  • LOC110121062:VISTA enhancer hs1329 [Gene]
  • LOC110121196:VISTA enhancer hs1741 [Gene]
  • LOC114827823:VISTA enhancer hs1927 [Gene]
  • LOC110120768:VISTA enhancer hs781 [Gene]
  • LOC110120769:VISTA enhancer hs782 [Gene]
  • LOC110120770:VISTA enhancer hs783 [Gene]
  • VPS37A:VPS37A subunit of ESCRT-I [Gene - OMIM - HGNC]
  • ADRA1A:adrenoceptor alpha 1A [Gene - OMIM - HGNC]
  • BMP1:bone morphogenetic protein 1 [Gene - OMIM - HGNC]
  • BIN3:bridging integrator 3 [Gene - OMIM - HGNC]
  • CCAR2:cell cycle and apoptosis regulator 2 [Gene - OMIM - HGNC]
  • CDCA2:cell division cycle associated 2 [Gene - OMIM - HGNC]
  • CHMP7:charged multivesicular body protein 7 [Gene - OMIM - HGNC]
  • CHRNA2:cholinergic receptor nicotinic alpha 2 subunit [Gene - OMIM - HGNC]
  • CSGALNACT1:chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Gene - OMIM - HGNC]
  • C8orf48:chromosome 8 open reading frame 48 [Gene - HGNC]
  • C8orf58:chromosome 8 open reading frame 58 [Gene - HGNC]
  • CLU:clusterin [Gene - OMIM - HGNC]
  • CCDC25:coiled-coil domain containing 25 [Gene - OMIM - HGNC]
  • DOCK5:dedicator of cytokinesis 5 [Gene - OMIM - HGNC]
  • DMTN:dematin actin binding protein [Gene - OMIM - HGNC]
  • DPYSL2:dihydropyrimidinase like 2 [Gene - OMIM - HGNC]
  • DOK2:docking protein 2 [Gene - OMIM - HGNC]
  • DUSP4:dual specificity phosphatase 4 [Gene - OMIM - HGNC]
  • DCTN6:dynactin subunit 6 [Gene - OMIM - HGNC]
  • EGR3:early growth response 3 [Gene - OMIM - HGNC]
  • ENTPD4:ectonucleoside triphosphate diphosphohydrolase 4 [Gene - OMIM - HGNC]
  • ELP3:elongator acetyltransferase complex subunit 3 [Gene - OMIM - HGNC]
  • EPHX2:epoxide hydrolase 2 [Gene - OMIM - HGNC]
  • ESCO2:establishment of sister chromatid cohesion N-acetyltransferase 2 [Gene - OMIM - HGNC]
  • EXTL3:exostosin like glycosyltransferase 3 [Gene - OMIM - HGNC]
  • XPO7:exportin 7 [Gene - OMIM - HGNC]
  • FGL1:fibrinogen like 1 [Gene - OMIM - HGNC]
  • FGF17:fibroblast growth factor 17 [Gene - OMIM - HGNC]
  • FGF20:fibroblast growth factor 20 [Gene - OMIM - HGNC]
  • FZD3:frizzled class receptor 3 [Gene - OMIM - HGNC]
  • GNRH1:gonadotropin releasing hormone 1 [Gene - OMIM - HGNC]
  • HMBOX1:homeobox containing 1 [Gene - OMIM - HGNC]
  • INTS10:integrator complex subunit 10 [Gene - OMIM - HGNC]
  • INTS9:integrator complex subunit 9 [Gene - OMIM - HGNC]
  • KIF13B:kinesin family member 13B [Gene - OMIM - HGNC]
  • LEPROTL1:leptin receptor overlapping transcript like 1 [Gene - OMIM - HGNC]
  • LGI3:leucine rich repeat LGI family member 3 [Gene - OMIM - HGNC]
  • LZTS1:leucine zipper tumor suppressor 1 [Gene - OMIM - HGNC]
  • LPL:lipoprotein lipase [Gene - OMIM - HGNC]
  • LINC02099:long intergenic non-protein coding RNA 2099 [Gene - HGNC]
  • LINC02153:long intergenic non-protein coding RNA 2153 [Gene - HGNC]
  • LINC02209:long intergenic non-protein coding RNA 2209 [Gene - HGNC]
  • LINC02948:long intergenic non-protein coding RNA 2948 [Gene - HGNC]
  • LINC03019:long intergenic non-protein coding RNA 3019 [Gene - HGNC]
  • LINC03023:long intergenic non-protein coding RNA 3023 [Gene - HGNC]
  • LINC03093:long intergenic non-protein coding RNA 3093 [Gene - HGNC]
  • LINC00589:long intergenic non-protein coding RNA 589 [Gene - HGNC]
  • LINC00681:long intergenic non-protein coding RNA 681 [Gene - HGNC]
  • LOXL2:lysyl oxidase like 2 [Gene - OMIM - HGNC]
  • MSR1:macrophage scavenger receptor 1 [Gene - OMIM - HGNC]
  • LOC128772327:melanoma risk locus-associated MPRA allelic enhancer 8:21964802 [Gene]
  • LOC128772328:melanoma risk locus-associated MPRA allelic enhancer 8:22014424 [Gene]
  • MBOAT4:membrane bound O-acyltransferase domain containing 4 [Gene - OMIM - HGNC]
  • MIR3148:microRNA 3148 [Gene - HGNC]
  • MIR320A:microRNA 320a [Gene - OMIM - HGNC]
  • MIR3622A:microRNA 3622a [Gene - HGNC]
  • MIR3622B:microRNA 3622b [Gene - HGNC]
  • MIR383:microRNA 383 [Gene - HGNC]
  • MIR3926-1:microRNA 3926-1 [Gene - HGNC]
  • MIR3926-2:microRNA 3926-2 [Gene - HGNC]
  • MIR4287:microRNA 4287 [Gene - HGNC]
  • MIR4288:microRNA 4288 [Gene - HGNC]
  • MIR548H4:microRNA 548h-4 [Gene - HGNC]
  • MIR548V:microRNA 548v [Gene - HGNC]
  • MIR6841:microRNA 6841 [Gene - HGNC]
  • MIR6842:microRNA 6842 [Gene - HGNC]
  • MIR6843:microRNA 6843 [Gene - HGNC]
  • MIR6876:microRNA 6876 [Gene - HGNC]
  • MTUS1:microtubule associated scaffold protein 1 [Gene - OMIM - HGNC]
  • MICU3:mitochondrial calcium uptake family member 3 [Gene - OMIM - HGNC]
  • MTMR7:myotubularin related protein 7 [Gene - OMIM - HGNC]
  • NEFL:neurofilament light chain [Gene - OMIM - HGNC]
  • NEFM:neurofilament medium chain [Gene - OMIM - HGNC]
  • NUGGC:nuclear GTPase, germinal center associated [Gene - OMIM - HGNC]
  • NPM2:nucleophosmin/nucleoplasmin 2 [Gene - OMIM - HGNC]
  • NUDT18:nudix hydrolase 18 [Gene - OMIM - HGNC]
  • PCM1:pericentriolar material 1 [Gene - OMIM - HGNC]
  • PEBP4:phosphatidylethanolamine binding protein 4 [Gene - OMIM - HGNC]
  • PHYHIP:phytanoyl-CoA 2-hydroxylase interacting protein [Gene - OMIM - HGNC]
  • PIWIL2:piwi like RNA-mediated gene silencing 2 [Gene - OMIM - HGNC]
  • PDGFRL:platelet derived growth factor receptor like [Gene - OMIM - HGNC]
  • PSD3:pleckstrin and Sec7 domain containing 3 [Gene - OMIM - HGNC]
  • KCTD9:potassium channel tetramerization domain containing 9 [Gene - OMIM - HGNC]
  • PNOC:prepronociceptin [Gene - OMIM - HGNC]
  • PPP2R2A:protein phosphatase 2 regulatory subunit Balpha [Gene - OMIM - HGNC]
  • PPP3CC:protein phosphatase 3 catalytic subunit gamma [Gene - OMIM - HGNC]
  • PTK2B:protein tyrosine kinase 2 beta [Gene - OMIM - HGNC]
  • REEP4:receptor accessory protein 4 [Gene - OMIM - HGNC]
  • SGCZ:sarcoglycan zeta [Gene - OMIM - HGNC]
  • SCARA3:scavenger receptor class A member 3 [Gene - OMIM - HGNC]
  • SCARA5:scavenger receptor class A member 5 [Gene - OMIM - HGNC]
  • SNORD3F:small nucleolar RNA, C/D box 3F [Gene - HGNC]
  • SLC18A1:solute carrier family 18 member A1 [Gene - OMIM - HGNC]
  • SLC25A37:solute carrier family 25 member 37 [Gene - OMIM - HGNC]
  • SLC39A14:solute carrier family 39 member 14 [Gene - OMIM - HGNC]
  • SLC7A2:solute carrier family 7 member 2 [Gene - OMIM - HGNC]
  • SORBS3:sorbin and SH3 domain containing 3 [Gene - OMIM - HGNC]
  • STC1:stanniocalcin 1 [Gene - OMIM - HGNC]
  • STMN4:stathmin 4 [Gene - OMIM - HGNC]
  • SARAF:store-operated calcium entry associated regulatory factor [Gene - OMIM - HGNC]
  • SFTPC:surfactant protein C [Gene - OMIM - HGNC]
  • TRMT9B:tRNA methyltransferase 9B (putative) [Gene - OMIM - HGNC]
  • TRIM35:tripartite motif containing 35 [Gene - OMIM - HGNC]
  • TUSC3:tumor suppressor candidate 3 [Gene - OMIM - HGNC]
  • LOC100128993:uncharacterized LOC100128993 [Gene]
  • LOC101929237:uncharacterized LOC101929237 [Gene]
  • LOC101929258:uncharacterized LOC101929258 [Gene]
  • LOC101929470:uncharacterized LOC101929470 [Gene]
  • LOC102725080:uncharacterized LOC102725080 [Gene]
  • LOC105379292:uncharacterized LOC105379292 [Gene]
  • LOC105379301:uncharacterized LOC105379301 [Gene]
  • LOC105379311:uncharacterized LOC105379311 [Gene]
  • LOC105379314:uncharacterized LOC105379314 [Gene]
  • LOC105379327:uncharacterized LOC105379327 [Gene]
  • LOC105379331:uncharacterized LOC105379331 [Gene]
  • LOC105379342:uncharacterized LOC105379342 [Gene]
  • LOC107986876:uncharacterized LOC107986876 [Gene]
  • LOC254896:uncharacterized LOC254896 [Gene]
  • LOC124901868:vegetative cell wall protein gp1 [Gene]
  • ZDHHC2:zinc finger DHHC-type palmitoyltransferase 2 [Gene - OMIM - HGNC]
  • ZNF395:zinc finger protein 395 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
8p23.1-12
Genomic location:
Chr8: 12721809 - 30183737 (on Assembly GRCh38)
Preferred name:
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1
HGVS:

    Condition(s)

    Name:
    Microcephaly
    Synonyms:
    Microcephaly (disease)
    Identifiers:
    MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004034237Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
    criteria provided, single submitter

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

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyesnot 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. doi: 10.1038/s41436-021-01150-9.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV004034237.1

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

    Description

    A heterozygous deletion of 8p23.1-p12 encompassing 105 genes (https://genescout.omim.org/) was identified by exome sequencing of one individual with microcephaly and neurodevelopmental disorder ([GRCh38] chr8:12721809_30183737x1). The presence of this deletion was validated by ddPCR. These breakpoints have been estimated by exome sequencing only and therefore may not reflect the true breakpoints. Inheritance information is unavailable. The patient phenotype is nonspecific, but is consistent with cases described in the literature and/or published databases with overlapping variants. More than two HI predictors suggest that more than 10 genes (XPO7, INTS10, EBF2, DLC1, HMBOX1, etc) included in this deletion are haploinsufficient (https://www.deciphergenomics.org/). In summary, the 8p23.1-p1 2 deletion 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: 0.15 points, 3: 0.90 points, 4-5: 0.10 points; Total: 1.15 points; Riggs 2020 (PMID: 31690835).

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Mar 30, 2024