GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 16, 2013
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:: RCV000143508.6

Allele description [Variation Report for GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3]

GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3

Genes:

ADAMDEC1:ADAM like decysin 1 [Gene - OMIM - HGNC]
ADAM18:ADAM metallopeptidase domain 18 [Gene - OMIM - HGNC]
ADAM28:ADAM metallopeptidase domain 28 [Gene - OMIM - HGNC]
ADAM2:ADAM metallopeptidase domain 2 [Gene - OMIM - HGNC]
ADAM32:ADAM metallopeptidase domain 32 [Gene - OMIM - HGNC]
LOC100130964:ADAM metallopeptidase domain 3A-like [Gene]
ADAM7:ADAM metallopeptidase domain 7 [Gene - OMIM - HGNC]
ADAM9:ADAM metallopeptidase domain 9 [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]
ASH2L:ASH2 like, histone lysine methyltransferase complex subunit [Gene - OMIM - HGNC]
LOC129999916:ATAC-STARR-seq lymphoblastoid active region 27041 [Gene]
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]
LOC130000163:ATAC-STARR-seq lymphoblastoid active region 27212 [Gene]
LOC130000167:ATAC-STARR-seq lymphoblastoid active region 27213 [Gene]
LOC130000172:ATAC-STARR-seq lymphoblastoid active region 27214 [Gene]
LOC130000179:ATAC-STARR-seq lymphoblastoid active region 27216 [Gene]
LOC130000180:ATAC-STARR-seq lymphoblastoid active region 27217 [Gene]
LOC130000182:ATAC-STARR-seq lymphoblastoid active region 27218 [Gene]
LOC130000185:ATAC-STARR-seq lymphoblastoid active region 27220 [Gene]
LOC130000187:ATAC-STARR-seq lymphoblastoid active region 27221 [Gene]
LOC130000189:ATAC-STARR-seq lymphoblastoid active region 27222 [Gene]
LOC130000195:ATAC-STARR-seq lymphoblastoid active region 27224 [Gene]
LOC130000197:ATAC-STARR-seq lymphoblastoid active region 27225 [Gene]
LOC130000198:ATAC-STARR-seq lymphoblastoid active region 27226 [Gene]
LOC130000199:ATAC-STARR-seq lymphoblastoid active region 27227 [Gene]
LOC130000200:ATAC-STARR-seq lymphoblastoid active region 27228 [Gene]
LOC130000201:ATAC-STARR-seq lymphoblastoid active region 27229 [Gene]
LOC130000202:ATAC-STARR-seq lymphoblastoid active region 27231 [Gene]
LOC130000203:ATAC-STARR-seq lymphoblastoid active region 27232 [Gene]
LOC130000207:ATAC-STARR-seq lymphoblastoid active region 27233 [Gene]
LOC130000208:ATAC-STARR-seq lymphoblastoid active region 27234 [Gene]
LOC130000209:ATAC-STARR-seq lymphoblastoid active region 27235 [Gene]
LOC130000210:ATAC-STARR-seq lymphoblastoid active region 27236 [Gene]
LOC130000211:ATAC-STARR-seq lymphoblastoid active region 27237 [Gene]
LOC130000215:ATAC-STARR-seq lymphoblastoid active region 27239 [Gene]
LOC130000216:ATAC-STARR-seq lymphoblastoid active region 27240 [Gene]
LOC130000218:ATAC-STARR-seq lymphoblastoid active region 27241 [Gene]
LOC130000220:ATAC-STARR-seq lymphoblastoid active region 27245 [Gene]
LOC130000221:ATAC-STARR-seq lymphoblastoid active region 27246 [Gene]
LOC130000225:ATAC-STARR-seq lymphoblastoid active region 27247 [Gene]
LOC130000231:ATAC-STARR-seq lymphoblastoid active region 27250 [Gene]
LOC130000234:ATAC-STARR-seq lymphoblastoid active region 27253 [Gene]
LOC130000235:ATAC-STARR-seq lymphoblastoid active region 27254 [Gene]
LOC130000238:ATAC-STARR-seq lymphoblastoid active region 27255 [Gene]
LOC130000239:ATAC-STARR-seq lymphoblastoid active region 27256 [Gene]
LOC130000243:ATAC-STARR-seq lymphoblastoid active region 27257 [Gene]
LOC130000244:ATAC-STARR-seq lymphoblastoid active region 27258 [Gene]
LOC130000246:ATAC-STARR-seq lymphoblastoid active region 27259 [Gene]
LOC130000247:ATAC-STARR-seq lymphoblastoid active region 27260 [Gene]
LOC130000248:ATAC-STARR-seq lymphoblastoid active region 27261 [Gene]
LOC130000249:ATAC-STARR-seq lymphoblastoid active region 27262 [Gene]
LOC130000250:ATAC-STARR-seq lymphoblastoid active region 27263 [Gene]
LOC130000251:ATAC-STARR-seq lymphoblastoid active region 27265 [Gene]
LOC130000252:ATAC-STARR-seq lymphoblastoid active region 27266 [Gene]
LOC130000255:ATAC-STARR-seq lymphoblastoid active region 27267 [Gene]
LOC130000256:ATAC-STARR-seq lymphoblastoid active region 27269 [Gene]
LOC130000257:ATAC-STARR-seq lymphoblastoid active region 27270 [Gene]
LOC130000259:ATAC-STARR-seq lymphoblastoid active region 27271 [Gene]
LOC130000260:ATAC-STARR-seq lymphoblastoid active region 27274 [Gene]
LOC130000261:ATAC-STARR-seq lymphoblastoid active region 27275 [Gene]
LOC130000263:ATAC-STARR-seq lymphoblastoid active region 27276 [Gene]
LOC130000264:ATAC-STARR-seq lymphoblastoid active region 27277 [Gene]
LOC130000266:ATAC-STARR-seq lymphoblastoid active region 27278 [Gene]
LOC130000267:ATAC-STARR-seq lymphoblastoid active region 27279 [Gene]
LOC130000268:ATAC-STARR-seq lymphoblastoid active region 27280 [Gene]
LOC129999915:ATAC-STARR-seq lymphoblastoid silent region 18949 [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]
LOC130000164:ATAC-STARR-seq lymphoblastoid silent region 19077 [Gene]
LOC130000165:ATAC-STARR-seq lymphoblastoid silent region 19078 [Gene]
LOC130000166:ATAC-STARR-seq lymphoblastoid silent region 19079 [Gene]
LOC130000168:ATAC-STARR-seq lymphoblastoid silent region 19080 [Gene]
LOC130000169:ATAC-STARR-seq lymphoblastoid silent region 19082 [Gene]
LOC130000170:ATAC-STARR-seq lymphoblastoid silent region 19083 [Gene]
LOC130000171:ATAC-STARR-seq lymphoblastoid silent region 19084 [Gene]
LOC130000173:ATAC-STARR-seq lymphoblastoid silent region 19085 [Gene]
LOC130000174:ATAC-STARR-seq lymphoblastoid silent region 19086 [Gene]
LOC130000175:ATAC-STARR-seq lymphoblastoid silent region 19087 [Gene]
LOC130000176:ATAC-STARR-seq lymphoblastoid silent region 19088 [Gene]
LOC130000177:ATAC-STARR-seq lymphoblastoid silent region 19091 [Gene]
LOC130000178:ATAC-STARR-seq lymphoblastoid silent region 19093 [Gene]
LOC130000181:ATAC-STARR-seq lymphoblastoid silent region 19094 [Gene]
LOC130000183:ATAC-STARR-seq lymphoblastoid silent region 19095 [Gene]
LOC130000184:ATAC-STARR-seq lymphoblastoid silent region 19096 [Gene]
LOC130000186:ATAC-STARR-seq lymphoblastoid silent region 19098 [Gene]
LOC130000188:ATAC-STARR-seq lymphoblastoid silent region 19099 [Gene]
LOC130000190:ATAC-STARR-seq lymphoblastoid silent region 19100 [Gene]
LOC130000191:ATAC-STARR-seq lymphoblastoid silent region 19101 [Gene]
LOC130000192:ATAC-STARR-seq lymphoblastoid silent region 19102 [Gene]
LOC130000193:ATAC-STARR-seq lymphoblastoid silent region 19103 [Gene]
LOC130000194:ATAC-STARR-seq lymphoblastoid silent region 19104 [Gene]
LOC130000196:ATAC-STARR-seq lymphoblastoid silent region 19105 [Gene]
LOC130000204:ATAC-STARR-seq lymphoblastoid silent region 19108 [Gene]
LOC130000205:ATAC-STARR-seq lymphoblastoid silent region 19109 [Gene]
LOC130000206:ATAC-STARR-seq lymphoblastoid silent region 19110 [Gene]
LOC130000212:ATAC-STARR-seq lymphoblastoid silent region 19111 [Gene]
LOC130000213:ATAC-STARR-seq lymphoblastoid silent region 19112 [Gene]
LOC130000214:ATAC-STARR-seq lymphoblastoid silent region 19113 [Gene]
LOC130000217:ATAC-STARR-seq lymphoblastoid silent region 19115 [Gene]
LOC130000219:ATAC-STARR-seq lymphoblastoid silent region 19116 [Gene]
LOC130000222:ATAC-STARR-seq lymphoblastoid silent region 19117 [Gene]
LOC130000223:ATAC-STARR-seq lymphoblastoid silent region 19119 [Gene]
LOC130000224:ATAC-STARR-seq lymphoblastoid silent region 19120 [Gene]
LOC130000226:ATAC-STARR-seq lymphoblastoid silent region 19122 [Gene]
LOC130000227:ATAC-STARR-seq lymphoblastoid silent region 19123 [Gene]
LOC130000228:ATAC-STARR-seq lymphoblastoid silent region 19125 [Gene]
LOC130000229:ATAC-STARR-seq lymphoblastoid silent region 19126 [Gene]
LOC130000230:ATAC-STARR-seq lymphoblastoid silent region 19127 [Gene]
LOC130000232:ATAC-STARR-seq lymphoblastoid silent region 19128 [Gene]
LOC130000233:ATAC-STARR-seq lymphoblastoid silent region 19129 [Gene]
LOC130000236:ATAC-STARR-seq lymphoblastoid silent region 19131 [Gene]
LOC130000237:ATAC-STARR-seq lymphoblastoid silent region 19132 [Gene]
LOC130000240:ATAC-STARR-seq lymphoblastoid silent region 19133 [Gene]
LOC130000241:ATAC-STARR-seq lymphoblastoid silent region 19134 [Gene]
LOC130000242:ATAC-STARR-seq lymphoblastoid silent region 19135 [Gene]
LOC130000245:ATAC-STARR-seq lymphoblastoid silent region 19136 [Gene]
LOC130000253:ATAC-STARR-seq lymphoblastoid silent region 19137 [Gene]
LOC130000254:ATAC-STARR-seq lymphoblastoid silent region 19138 [Gene]
LOC130000258:ATAC-STARR-seq lymphoblastoid silent region 19139 [Gene]
LOC130000262:ATAC-STARR-seq lymphoblastoid silent region 19140 [Gene]
LOC130000265:ATAC-STARR-seq lymphoblastoid silent region 19141 [Gene]
ATP6V1B2:ATPase H+ transporting V1 subunit B2 [Gene - OMIM - HGNC]
BAG4:BAG cochaperone 4 [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]
LOC126860343:BRD4-independent group 4 enhancer GRCh37_chr8:31165622-31166821 [Gene]
LOC126860344:BRD4-independent group 4 enhancer GRCh37_chr8:32490269-32491468 [Gene]
LOC126860346:BRD4-independent group 4 enhancer GRCh37_chr8:32617179-32618378 [Gene]
LOC126860353:BRD4-independent group 4 enhancer GRCh37_chr8:35717700-35718899 [Gene]
LOC126860354:BRD4-independent group 4 enhancer GRCh37_chr8:36347406-36348605 [Gene]
LOC126860360:BRD4-independent group 4 enhancer GRCh37_chr8:37638448-37639647 [Gene]
LOC126860362:BRD4-independent group 4 enhancer GRCh37_chr8:39038237-39039436 [Gene]
LOC126860364:BRD4-independent group 4 enhancer GRCh37_chr8:40206788-40207987 [Gene]
BRF2:BRF2 RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
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]
LOC126860350:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:34939898-34941097 [Gene]
LOC126860352:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:35686142-35687341 [Gene]
LOC126860358:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:37188590-37189789 [Gene]
LOC116186926:CRISPRi-validated cis-regulatory element chr8.1136 [Gene]
LOC116186927:CRISPRi-validated cis-regulatory element chr8.1253 [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]
DDHD2:DDHD domain containing 2 [Gene - OMIM - 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]
ERLIN2:ER lipid raft associated 2 [Gene - OMIM - 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]
LOC111500313:HNF1 motif-containing MPRA enhancer 269 [Gene]
LOC111413020:HNF4 motif-containing MPRA enhancer 150 [Gene]
HR:HR lysine demethylase and nuclear receptor corepressor [Gene - OMIM - HGNC]
HRURF:HR upstream open reading frame [Gene - OMIM - HGNC]
HTRA4:HtrA serine peptidase 4 [Gene - OMIM - HGNC]
LONRF1:LON peptidase N-terminal domain and ring finger 1 [Gene - HGNC]
LOXL2-AS1:LOXL2 antisense RNA 1 [Gene - HGNC]
LSM1:LSM1 homolog, mRNA degradation associated [Gene - OMIM - HGNC]
LZTS1-AS1:LZTS1 antisense RNA 1 [Gene - HGNC]
MAK16:MAK16 homolog [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]
LOC126860342:MED14-independent group 3 enhancer GRCh37_chr8:31029565-31030764 [Gene]
LOC126860345:MED14-independent group 3 enhancer GRCh37_chr8:32500376-32501575 [Gene]
LOC126860347:MED14-independent group 3 enhancer GRCh37_chr8:32986477-32987676 [Gene]
LOC126860348:MED14-independent group 3 enhancer GRCh37_chr8:33612557-33613756 [Gene]
LOC126860355:MED14-independent group 3 enhancer GRCh37_chr8:36780820-36782019 [Gene]
LOC126860357:MED14-independent group 3 enhancer GRCh37_chr8:37136489-37137688 [Gene]
LOC126860361:MED14-independent group 3 enhancer GRCh37_chr8:38724712-38725911 [Gene]
LOC126860363:MED14-independent group 3 enhancer GRCh37_chr8:39084432-39085631 [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]
LOC129389976:MPRA-validated peak6979 silencer [Gene]
LOC129389977:MPRA-validated peak6984 silencer [Gene]
LOC129389978:MPRA-validated peak6988 silencer [Gene]
LOC129389979:MPRA-validated peak6990 silencer [Gene]
LOC129389980:MPRA-validated peak6991 silencer [Gene]
LOC129389981:MPRA-validated peak6993 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]
NRG1-IT1:NRG1 intronic transcript 1 [Gene - HGNC]
NRG1-IT3:NRG1 intronic transcript 3 [Gene - HGNC]
LOC107133509:NUP98-NSD3 recombination region [Gene]
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]
LOC132089599:Neanderthal introgressed variant-containing enhancer experimental_103242 [Gene]
LOC132089600:Neanderthal introgressed variant-containing enhancer experimental_103270 [Gene]
LOC132089601:Neanderthal introgressed variant-containing enhancer experimental_103276 [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]
LOC126860341:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:30106253-30107452 [Gene]
LOC126860349:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:34714442-34715641 [Gene]
LOC126860351:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:35344139-35345338 [Gene]
LOC126860356:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:37000266-37001465 [Gene]
LOC126860359:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:37378682-37379881 [Gene]
LOC113788279:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:38385147-38386346 [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]
RAB11FIP1:RAB11 family interacting protein 1 [Gene - OMIM - HGNC]
RBPMS-AS1:RBPMS antisense RNA 1 [Gene - HGNC]
RBPMS:RNA binding protein, mRNA processing factor [Gene - OMIM - 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]
SIRLNT:SIRT1 regulating lncRNA tumor promoter [Gene - HGNC]
LOC108863620:STAR 5' regulatory region [Gene]
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]
LOC124153149:Sharpr-MPRA regulatory region 10821 [Gene]
LOC124153133:Sharpr-MPRA regulatory region 11135 [Gene]
LOC124153127:Sharpr-MPRA regulatory region 1118 [Gene]
LOC124153144:Sharpr-MPRA regulatory region 11218 [Gene]
LOC124153118:Sharpr-MPRA regulatory region 11422 [Gene]
LOC124153120:Sharpr-MPRA regulatory region 12029 [Gene]
LOC124153130:Sharpr-MPRA regulatory region 12075 [Gene]
LOC121331299:Sharpr-MPRA regulatory region 12355 [Gene]
LOC113788270:Sharpr-MPRA regulatory region 12406 [Gene]
LOC124153152:Sharpr-MPRA regulatory region 1248 [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]
LOC113788280:Sharpr-MPRA regulatory region 13542 [Gene]
LOC113788277:Sharpr-MPRA regulatory region 13802 [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]
LOC124153141:Sharpr-MPRA regulatory region 14794 [Gene]
LOC124153150:Sharpr-MPRA regulatory region 15086 [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]
LOC113788276:Sharpr-MPRA regulatory region 2547 [Gene]
LOC124153151:Sharpr-MPRA regulatory region 279 [Gene]
LOC124153126:Sharpr-MPRA regulatory region 2993 [Gene]
LOC124153153:Sharpr-MPRA regulatory region 3146 [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]
LOC124153139:Sharpr-MPRA regulatory region 3907 [Gene]
LOC124153114:Sharpr-MPRA regulatory region 4415 [Gene]
LOC124153145:Sharpr-MPRA regulatory region 4493 [Gene]
LOC124153146:Sharpr-MPRA regulatory region 4585 [Gene]
LOC113788275:Sharpr-MPRA regulatory region 4987 [Gene]
LOC124153148:Sharpr-MPRA regulatory region 511 [Gene]
LOC124153142:Sharpr-MPRA regulatory region 5217 [Gene]
LOC121740715:Sharpr-MPRA regulatory region 5273 [Gene]
LOC124153138:Sharpr-MPRA regulatory region 541 [Gene]
LOC113788278:Sharpr-MPRA regulatory region 54 [Gene]
LOC124153140:Sharpr-MPRA regulatory region 6165 [Gene]
LOC121740712:Sharpr-MPRA regulatory region 6380 [Gene]
LOC121740711:Sharpr-MPRA regulatory region 6582 [Gene]
LOC114004413:Sharpr-MPRA regulatory region 7305 [Gene]
LOC124153116:Sharpr-MPRA regulatory region 772 [Gene]
LOC124153147:Sharpr-MPRA regulatory region 7766 [Gene]
LOC124153143:Sharpr-MPRA regulatory region 823 [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]
LOC121331298:Sharpr-MPRA regulatory region 9155 [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]
TTI2:TELO2 interacting protein 2 [Gene - OMIM - HGNC]
TM2D2:TM2 domain containing 2 [Gene - OMIM - HGNC]
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]
UBXN8:UBX domain protein 8 [Gene - OMIM - HGNC]
LOC110121062:VISTA enhancer hs1329 [Gene]
LOC110121182:VISTA enhancer hs1665 [Gene]
LOC110121192:VISTA enhancer hs1715 [Gene]
LOC110121196:VISTA enhancer hs1741 [Gene]
LOC114827823:VISTA enhancer hs1927 [Gene]
LOC110121233:VISTA enhancer hs1962 [Gene]
LOC110120654:VISTA enhancer hs302 [Gene]
LOC110120721:VISTA enhancer hs631 [Gene]
LOC110120768:VISTA enhancer hs781 [Gene]
LOC110120769:VISTA enhancer hs782 [Gene]
LOC110120770:VISTA enhancer hs783 [Gene]
LOC110120781:VISTA enhancer hs834 [Gene]
VPS37A:VPS37A subunit of ESCRT-I [Gene - OMIM - HGNC]
WRN:WRN RecQ like helicase [Gene - OMIM - HGNC]
ADGRA2:adhesion G protein-coupled receptor A2 [Gene - OMIM - HGNC]
ADRA1A:adrenoceptor alpha 1A [Gene - OMIM - HGNC]
ADRB3:adrenoceptor beta 3 [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]
DUSP26:dual specificity phosphatase 26 [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]
EIF4EBP1:eukaryotic translation initiation factor 4E binding protein 1 [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]
FGFR1:fibroblast growth factor receptor 1 [Gene - OMIM - HGNC]
FZD3:frizzled class receptor 3 [Gene - OMIM - HGNC]
FUT10:fucosyltransferase 10 [Gene - OMIM - HGNC]
GTF2E2:general transcription factor IIE subunit 2 [Gene - OMIM - HGNC]
GOT1L1:glutamic-oxaloacetic transaminase 1 like 1 [Gene - HGNC]
GSR:glutathione-disulfide reductase [Gene - OMIM - HGNC]
GNRH1:gonadotropin releasing hormone 1 [Gene - OMIM - HGNC]
LOC108004525:heart enhancer 24 [Gene]
HMBOX1:homeobox containing 1 [Gene - OMIM - HGNC]
IDO1:indoleamine 2,3-dioxygenase 1 [Gene - OMIM - HGNC]
IDO2:indoleamine 2,3-dioxygenase 2 [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]
LETM2:leucine zipper and EF-hand containing transmembrane protein 2 [Gene - OMIM - HGNC]
LZTS1:leucine zipper tumor suppressor 1 [Gene - OMIM - HGNC]
LPL:lipoprotein lipase [Gene - OMIM - HGNC]
LINC01288:long intergenic non-protein coding RNA 1288 [Gene - HGNC]
LINC01605:long intergenic non-protein coding RNA 1605 [Gene - 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]
LINC02866:long intergenic non-protein coding RNA 2866 [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]
LINC03042:long intergenic non-protein coding RNA 3042 [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]
MIR5692A2:microRNA 5692a-2 [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]
NRG1:neuregulin 1 [Gene - OMIM - HGNC]
NEFL:neurofilament light chain [Gene - OMIM - HGNC]
NEFM:neurofilament medium chain [Gene - OMIM - HGNC]
LOC108281187:nontranscribed ENCODE-defined enhancer downstream of SMARCE1P4 [Gene]
NUGGC:nuclear GTPase, germinal center associated [Gene - OMIM - HGNC]
NSD3:nuclear receptor binding SET domain protein 3 [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]
PLPP5:phospholipid phosphatase 5 [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]
PLEKHA2:pleckstrin homology domain containing A2 [Gene - OMIM - HGNC]
KCNU1:potassium calcium-activated channel subfamily U member 1 [Gene - OMIM - HGNC]
KCTD9:potassium channel tetramerization domain containing 9 [Gene - OMIM - HGNC]
PNOC:prepronociceptin [Gene - OMIM - HGNC]
PPP2CB:protein phosphatase 2 catalytic subunit beta [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]
PURG:purine rich element binding protein G [Gene - OMIM - HGNC]
PLPBP:pyridoxal phosphate binding protein [Gene - OMIM - HGNC]
REEP4:receptor accessory protein 4 [Gene - OMIM - HGNC]
RNF122:ring finger protein 122 [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]
SMIM18:small integral membrane protein 18 [Gene - HGNC]
SNORD13:small nucleolar RNA, C/D box 13 [Gene - OMIM - HGNC]
SNORD38D:small nucleolar RNA, C/D box 38D [Gene - 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]
STAR:steroidogenic acute regulatory protein [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]
TEX15:testis expressed 15, meiosis and synapsis associated [Gene - OMIM - HGNC]
TCIM:transcriptional and immune response regulator [Gene - OMIM - HGNC]
TACC1:transforming acidic coiled-coil containing protein 1 [Gene - OMIM - HGNC]
TRIM35:tripartite motif containing 35 [Gene - OMIM - HGNC]
TUSC3:tumor suppressor candidate 3 [Gene - OMIM - HGNC]
UNC5D:unc-5 netrin receptor D [Gene - OMIM - HGNC]
LOC100128993:uncharacterized LOC100128993 [Gene]
LOC100507403:uncharacterized LOC100507403 [Gene]
LOC101929237:uncharacterized LOC101929237 [Gene]
LOC101929258:uncharacterized LOC101929258 [Gene]
LOC101929470:uncharacterized LOC101929470 [Gene]
LOC101929550:uncharacterized LOC101929550 [Gene]
LOC101929622:uncharacterized LOC101929622 [Gene]
LOC101929881:uncharacterized LOC101929881 [Gene]
LOC102723701:uncharacterized LOC102723701 [Gene]
LOC102723716:uncharacterized LOC102723716 [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]
LOC105379362:uncharacterized LOC105379362 [Gene]
LOC105379364:uncharacterized LOC105379364 [Gene]
LOC105379379:uncharacterized LOC105379379 [Gene]
LOC105379385:uncharacterized LOC105379385 [Gene]
LOC107986876:uncharacterized LOC107986876 [Gene]
LOC128092250:uncharacterized LOC128092250 [Gene]
LOC254896:uncharacterized LOC254896 [Gene]
LOC729732:uncharacterized LOC729732 [Gene]
LOC124901868:vegetative cell wall protein gp1 [Gene]
ZDHHC2:zinc finger DHHC-type palmitoyltransferase 2 [Gene - OMIM - HGNC]
ZMAT4:zinc finger matrin-type 4 [Gene - HGNC]
ZNF395:zinc finger protein 395 [Gene - OMIM - HGNC]
ZNF703:zinc finger protein 703 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

8p23.1-11.21

Genomic location:

Preferred name:

GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3

HGVS:

NC_000008.11:g.(?_12633490)_(40685533_?)dup
NC_000008.10:g.(?_12490999)_(40543052_?)dup

Links:

dbVar: nssv3397147; dbVar: nsv995550

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000182974	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Jul 16, 2013)	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

SCV000182974

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Jul 16, 2013)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
human	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, SCV000182974.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	human	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: Sep 1, 2024

ClinVar

Relating variation to medicine