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GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 18, 2011
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:
RCV000135654.6

Allele description [Variation Report for GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3]

GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3

Genes:
  • ALG14:ALG14 UDP-N-acetylglucosaminyltransferase subunit [Gene - OMIM - HGNC]
  • ALG14-AS1:ALG14 antisense RNA 1 [Gene - HGNC]
  • LOC129930818:ATAC-STARR-seq lymphoblastoid active region 1242 [Gene]
  • LOC129930819:ATAC-STARR-seq lymphoblastoid active region 1243 [Gene]
  • LOC129930820:ATAC-STARR-seq lymphoblastoid active region 1244 [Gene]
  • LOC129930822:ATAC-STARR-seq lymphoblastoid active region 1245 [Gene]
  • LOC129930828:ATAC-STARR-seq lymphoblastoid active region 1246 [Gene]
  • LOC129930830:ATAC-STARR-seq lymphoblastoid active region 1247 [Gene]
  • LOC129930833:ATAC-STARR-seq lymphoblastoid active region 1248 [Gene]
  • LOC129930835:ATAC-STARR-seq lymphoblastoid active region 1249 [Gene]
  • LOC129930836:ATAC-STARR-seq lymphoblastoid active region 1250 [Gene]
  • LOC129930837:ATAC-STARR-seq lymphoblastoid active region 1251 [Gene]
  • LOC129930838:ATAC-STARR-seq lymphoblastoid active region 1252 [Gene]
  • LOC129930841:ATAC-STARR-seq lymphoblastoid active region 1253 [Gene]
  • LOC129930842:ATAC-STARR-seq lymphoblastoid active region 1254 [Gene]
  • LOC129930843:ATAC-STARR-seq lymphoblastoid active region 1255 [Gene]
  • LOC129930849:ATAC-STARR-seq lymphoblastoid active region 1256 [Gene]
  • LOC129930850:ATAC-STARR-seq lymphoblastoid active region 1257 [Gene]
  • LOC129930851:ATAC-STARR-seq lymphoblastoid active region 1258 [Gene]
  • LOC129930852:ATAC-STARR-seq lymphoblastoid active region 1259 [Gene]
  • LOC129930854:ATAC-STARR-seq lymphoblastoid active region 1260 [Gene]
  • LOC129930855:ATAC-STARR-seq lymphoblastoid active region 1261 [Gene]
  • LOC129930856:ATAC-STARR-seq lymphoblastoid active region 1262 [Gene]
  • LOC129930857:ATAC-STARR-seq lymphoblastoid active region 1263 [Gene]
  • LOC129930858:ATAC-STARR-seq lymphoblastoid active region 1264 [Gene]
  • LOC129930861:ATAC-STARR-seq lymphoblastoid active region 1265 [Gene]
  • LOC129930864:ATAC-STARR-seq lymphoblastoid active region 1266 [Gene]
  • LOC129930868:ATAC-STARR-seq lymphoblastoid active region 1267 [Gene]
  • LOC129930869:ATAC-STARR-seq lymphoblastoid active region 1268 [Gene]
  • LOC129930870:ATAC-STARR-seq lymphoblastoid active region 1269 [Gene]
  • LOC129930875:ATAC-STARR-seq lymphoblastoid active region 1270 [Gene]
  • LOC129930879:ATAC-STARR-seq lymphoblastoid active region 1273 [Gene]
  • LOC129930880:ATAC-STARR-seq lymphoblastoid active region 1274 [Gene]
  • LOC129930881:ATAC-STARR-seq lymphoblastoid active region 1275 [Gene]
  • LOC129930882:ATAC-STARR-seq lymphoblastoid active region 1276 [Gene]
  • LOC129930883:ATAC-STARR-seq lymphoblastoid active region 1277 [Gene]
  • LOC129930884:ATAC-STARR-seq lymphoblastoid active region 1278 [Gene]
  • LOC129930885:ATAC-STARR-seq lymphoblastoid active region 1279 [Gene]
  • LOC129930886:ATAC-STARR-seq lymphoblastoid active region 1280 [Gene]
  • LOC129930887:ATAC-STARR-seq lymphoblastoid active region 1281 [Gene]
  • LOC129930888:ATAC-STARR-seq lymphoblastoid active region 1285 [Gene]
  • LOC129930889:ATAC-STARR-seq lymphoblastoid active region 1286 [Gene]
  • LOC129930890:ATAC-STARR-seq lymphoblastoid active region 1287 [Gene]
  • LOC129930895:ATAC-STARR-seq lymphoblastoid active region 1288 [Gene]
  • LOC129930897:ATAC-STARR-seq lymphoblastoid active region 1289 [Gene]
  • LOC129930898:ATAC-STARR-seq lymphoblastoid active region 1290 [Gene]
  • LOC129930899:ATAC-STARR-seq lymphoblastoid active region 1291 [Gene]
  • LOC129930900:ATAC-STARR-seq lymphoblastoid active region 1293 [Gene]
  • LOC129930903:ATAC-STARR-seq lymphoblastoid active region 1294 [Gene]
  • LOC129930904:ATAC-STARR-seq lymphoblastoid active region 1295 [Gene]
  • LOC129930906:ATAC-STARR-seq lymphoblastoid active region 1296 [Gene]
  • LOC129930908:ATAC-STARR-seq lymphoblastoid active region 1297 [Gene]
  • LOC129930909:ATAC-STARR-seq lymphoblastoid active region 1298 [Gene]
  • LOC129930911:ATAC-STARR-seq lymphoblastoid active region 1299 [Gene]
  • LOC129930916:ATAC-STARR-seq lymphoblastoid active region 1301 [Gene]
  • LOC129930918:ATAC-STARR-seq lymphoblastoid active region 1302 [Gene]
  • LOC129930920:ATAC-STARR-seq lymphoblastoid active region 1303 [Gene]
  • LOC129930921:ATAC-STARR-seq lymphoblastoid active region 1304 [Gene]
  • LOC129930922:ATAC-STARR-seq lymphoblastoid active region 1305 [Gene]
  • LOC129930923:ATAC-STARR-seq lymphoblastoid active region 1306 [Gene]
  • LOC129930924:ATAC-STARR-seq lymphoblastoid active region 1307 [Gene]
  • LOC129930925:ATAC-STARR-seq lymphoblastoid active region 1308 [Gene]
  • LOC129930926:ATAC-STARR-seq lymphoblastoid active region 1309 [Gene]
  • LOC129930927:ATAC-STARR-seq lymphoblastoid active region 1310 [Gene]
  • LOC129930928:ATAC-STARR-seq lymphoblastoid active region 1312 [Gene]
  • LOC129930929:ATAC-STARR-seq lymphoblastoid active region 1313 [Gene]
  • LOC129930930:ATAC-STARR-seq lymphoblastoid active region 1314 [Gene]
  • LOC129930934:ATAC-STARR-seq lymphoblastoid active region 1316 [Gene]
  • LOC129930935:ATAC-STARR-seq lymphoblastoid active region 1317 [Gene]
  • LOC129930938:ATAC-STARR-seq lymphoblastoid active region 1318 [Gene]
  • LOC129930939:ATAC-STARR-seq lymphoblastoid active region 1319 [Gene]
  • LOC129930940:ATAC-STARR-seq lymphoblastoid active region 1321 [Gene]
  • LOC129930941:ATAC-STARR-seq lymphoblastoid active region 1322 [Gene]
  • LOC129930942:ATAC-STARR-seq lymphoblastoid active region 1323 [Gene]
  • LOC129930945:ATAC-STARR-seq lymphoblastoid active region 1324 [Gene]
  • LOC129930947:ATAC-STARR-seq lymphoblastoid active region 1325 [Gene]
  • LOC129930949:ATAC-STARR-seq lymphoblastoid active region 1327 [Gene]
  • LOC129930951:ATAC-STARR-seq lymphoblastoid active region 1328 [Gene]
  • LOC129930952:ATAC-STARR-seq lymphoblastoid active region 1329 [Gene]
  • LOC129930953:ATAC-STARR-seq lymphoblastoid active region 1330 [Gene]
  • LOC129930954:ATAC-STARR-seq lymphoblastoid active region 1331 [Gene]
  • LOC129930955:ATAC-STARR-seq lymphoblastoid active region 1333 [Gene]
  • LOC129930957:ATAC-STARR-seq lymphoblastoid active region 1335 [Gene]
  • LOC129930958:ATAC-STARR-seq lymphoblastoid active region 1336 [Gene]
  • LOC129930959:ATAC-STARR-seq lymphoblastoid active region 1337 [Gene]
  • LOC129930961:ATAC-STARR-seq lymphoblastoid active region 1339 [Gene]
  • LOC129930962:ATAC-STARR-seq lymphoblastoid active region 1340 [Gene]
  • LOC129930963:ATAC-STARR-seq lymphoblastoid active region 1341 [Gene]
  • LOC129930964:ATAC-STARR-seq lymphoblastoid active region 1342 [Gene]
  • LOC129930967:ATAC-STARR-seq lymphoblastoid active region 1343 [Gene]
  • LOC129930971:ATAC-STARR-seq lymphoblastoid active region 1345 [Gene]
  • LOC129930976:ATAC-STARR-seq lymphoblastoid active region 1346 [Gene]
  • LOC129930977:ATAC-STARR-seq lymphoblastoid active region 1347 [Gene]
  • LOC129930980:ATAC-STARR-seq lymphoblastoid active region 1348 [Gene]
  • LOC129930982:ATAC-STARR-seq lymphoblastoid active region 1349 [Gene]
  • LOC129930983:ATAC-STARR-seq lymphoblastoid active region 1350 [Gene]
  • LOC129930987:ATAC-STARR-seq lymphoblastoid active region 1351 [Gene]
  • LOC129930988:ATAC-STARR-seq lymphoblastoid active region 1352 [Gene]
  • LOC129930989:ATAC-STARR-seq lymphoblastoid active region 1353 [Gene]
  • LOC129930990:ATAC-STARR-seq lymphoblastoid active region 1354 [Gene]
  • LOC129930996:ATAC-STARR-seq lymphoblastoid active region 1355 [Gene]
  • LOC129930997:ATAC-STARR-seq lymphoblastoid active region 1356 [Gene]
  • LOC129931003:ATAC-STARR-seq lymphoblastoid active region 1357 [Gene]
  • LOC129931004:ATAC-STARR-seq lymphoblastoid active region 1358 [Gene]
  • LOC129931005:ATAC-STARR-seq lymphoblastoid active region 1359 [Gene]
  • LOC129931006:ATAC-STARR-seq lymphoblastoid active region 1360 [Gene]
  • LOC129931007:ATAC-STARR-seq lymphoblastoid active region 1361 [Gene]
  • LOC129931008:ATAC-STARR-seq lymphoblastoid active region 1363 [Gene]
  • LOC129931009:ATAC-STARR-seq lymphoblastoid active region 1364 [Gene]
  • LOC129931011:ATAC-STARR-seq lymphoblastoid active region 1365 [Gene]
  • LOC129931012:ATAC-STARR-seq lymphoblastoid active region 1366 [Gene]
  • LOC129931014:ATAC-STARR-seq lymphoblastoid active region 1367 [Gene]
  • LOC129931015:ATAC-STARR-seq lymphoblastoid active region 1368 [Gene]
  • LOC129931016:ATAC-STARR-seq lymphoblastoid active region 1369 [Gene]
  • LOC129931017:ATAC-STARR-seq lymphoblastoid active region 1370 [Gene]
  • LOC129931018:ATAC-STARR-seq lymphoblastoid active region 1371 [Gene]
  • LOC129931019:ATAC-STARR-seq lymphoblastoid active region 1372 [Gene]
  • LOC129931020:ATAC-STARR-seq lymphoblastoid active region 1373 [Gene]
  • LOC129931021:ATAC-STARR-seq lymphoblastoid active region 1376 [Gene]
  • LOC129931022:ATAC-STARR-seq lymphoblastoid active region 1379 [Gene]
  • LOC129931023:ATAC-STARR-seq lymphoblastoid active region 1380 [Gene]
  • LOC129931026:ATAC-STARR-seq lymphoblastoid active region 1381 [Gene]
  • LOC129931027:ATAC-STARR-seq lymphoblastoid active region 1382 [Gene]
  • LOC129931028:ATAC-STARR-seq lymphoblastoid active region 1383 [Gene]
  • LOC129931029:ATAC-STARR-seq lymphoblastoid active region 1385 [Gene]
  • LOC129931030:ATAC-STARR-seq lymphoblastoid active region 1386 [Gene]
  • LOC129931031:ATAC-STARR-seq lymphoblastoid active region 1388 [Gene]
  • LOC129931032:ATAC-STARR-seq lymphoblastoid active region 1389 [Gene]
  • LOC129931033:ATAC-STARR-seq lymphoblastoid active region 1390 [Gene]
  • LOC129931037:ATAC-STARR-seq lymphoblastoid active region 1392 [Gene]
  • LOC129931038:ATAC-STARR-seq lymphoblastoid active region 1393 [Gene]
  • LOC129931039:ATAC-STARR-seq lymphoblastoid active region 1394 [Gene]
  • LOC129931040:ATAC-STARR-seq lymphoblastoid active region 1395 [Gene]
  • LOC129931041:ATAC-STARR-seq lymphoblastoid active region 1396 [Gene]
  • LOC129931042:ATAC-STARR-seq lymphoblastoid active region 1397 [Gene]
  • LOC129931043:ATAC-STARR-seq lymphoblastoid active region 1398 [Gene]
  • LOC129931044:ATAC-STARR-seq lymphoblastoid active region 1399 [Gene]
  • LOC129931045:ATAC-STARR-seq lymphoblastoid active region 1400 [Gene]
  • LOC129931046:ATAC-STARR-seq lymphoblastoid active region 1401 [Gene]
  • LOC129931048:ATAC-STARR-seq lymphoblastoid active region 1402 [Gene]
  • LOC129931049:ATAC-STARR-seq lymphoblastoid active region 1403 [Gene]
  • LOC129931050:ATAC-STARR-seq lymphoblastoid active region 1404 [Gene]
  • LOC129931051:ATAC-STARR-seq lymphoblastoid active region 1405 [Gene]
  • LOC129931052:ATAC-STARR-seq lymphoblastoid active region 1406 [Gene]
  • LOC129931053:ATAC-STARR-seq lymphoblastoid active region 1407 [Gene]
  • LOC129931054:ATAC-STARR-seq lymphoblastoid active region 1408 [Gene]
  • LOC129931055:ATAC-STARR-seq lymphoblastoid active region 1409 [Gene]
  • LOC129931056:ATAC-STARR-seq lymphoblastoid active region 1410 [Gene]
  • LOC129931058:ATAC-STARR-seq lymphoblastoid active region 1411 [Gene]
  • LOC129931060:ATAC-STARR-seq lymphoblastoid active region 1412 [Gene]
  • LOC129931062:ATAC-STARR-seq lymphoblastoid active region 1413 [Gene]
  • LOC129930821:ATAC-STARR-seq lymphoblastoid silent region 1008 [Gene]
  • LOC129930823:ATAC-STARR-seq lymphoblastoid silent region 1009 [Gene]
  • LOC129930824:ATAC-STARR-seq lymphoblastoid silent region 1010 [Gene]
  • LOC129930825:ATAC-STARR-seq lymphoblastoid silent region 1011 [Gene]
  • LOC129930826:ATAC-STARR-seq lymphoblastoid silent region 1012 [Gene]
  • LOC129930827:ATAC-STARR-seq lymphoblastoid silent region 1013 [Gene]
  • LOC129930829:ATAC-STARR-seq lymphoblastoid silent region 1015 [Gene]
  • LOC129930831:ATAC-STARR-seq lymphoblastoid silent region 1016 [Gene]
  • LOC129930832:ATAC-STARR-seq lymphoblastoid silent region 1017 [Gene]
  • LOC129930834:ATAC-STARR-seq lymphoblastoid silent region 1018 [Gene]
  • LOC129930839:ATAC-STARR-seq lymphoblastoid silent region 1019 [Gene]
  • LOC129930840:ATAC-STARR-seq lymphoblastoid silent region 1020 [Gene]
  • LOC129930844:ATAC-STARR-seq lymphoblastoid silent region 1021 [Gene]
  • LOC129930845:ATAC-STARR-seq lymphoblastoid silent region 1022 [Gene]
  • LOC129930846:ATAC-STARR-seq lymphoblastoid silent region 1023 [Gene]
  • LOC129930847:ATAC-STARR-seq lymphoblastoid silent region 1024 [Gene]
  • LOC129930848:ATAC-STARR-seq lymphoblastoid silent region 1025 [Gene]
  • LOC129930853:ATAC-STARR-seq lymphoblastoid silent region 1026 [Gene]
  • LOC129930859:ATAC-STARR-seq lymphoblastoid silent region 1027 [Gene]
  • LOC129930860:ATAC-STARR-seq lymphoblastoid silent region 1028 [Gene]
  • LOC129930862:ATAC-STARR-seq lymphoblastoid silent region 1029 [Gene]
  • LOC129930863:ATAC-STARR-seq lymphoblastoid silent region 1030 [Gene]
  • LOC129930865:ATAC-STARR-seq lymphoblastoid silent region 1031 [Gene]
  • LOC129930866:ATAC-STARR-seq lymphoblastoid silent region 1032 [Gene]
  • LOC129930867:ATAC-STARR-seq lymphoblastoid silent region 1033 [Gene]
  • LOC129930871:ATAC-STARR-seq lymphoblastoid silent region 1034 [Gene]
  • LOC129930872:ATAC-STARR-seq lymphoblastoid silent region 1035 [Gene]
  • LOC129930873:ATAC-STARR-seq lymphoblastoid silent region 1036 [Gene]
  • LOC129930874:ATAC-STARR-seq lymphoblastoid silent region 1037 [Gene]
  • LOC129930876:ATAC-STARR-seq lymphoblastoid silent region 1039 [Gene]
  • LOC129930877:ATAC-STARR-seq lymphoblastoid silent region 1040 [Gene]
  • LOC129930878:ATAC-STARR-seq lymphoblastoid silent region 1041 [Gene]
  • LOC129930891:ATAC-STARR-seq lymphoblastoid silent region 1043 [Gene]
  • LOC129930892:ATAC-STARR-seq lymphoblastoid silent region 1044 [Gene]
  • LOC129930893:ATAC-STARR-seq lymphoblastoid silent region 1045 [Gene]
  • LOC129930894:ATAC-STARR-seq lymphoblastoid silent region 1049 [Gene]
  • LOC129930896:ATAC-STARR-seq lymphoblastoid silent region 1050 [Gene]
  • LOC129930901:ATAC-STARR-seq lymphoblastoid silent region 1051 [Gene]
  • LOC129930902:ATAC-STARR-seq lymphoblastoid silent region 1052 [Gene]
  • LOC129930905:ATAC-STARR-seq lymphoblastoid silent region 1053 [Gene]
  • LOC129930907:ATAC-STARR-seq lymphoblastoid silent region 1054 [Gene]
  • LOC129930910:ATAC-STARR-seq lymphoblastoid silent region 1055 [Gene]
  • LOC129930912:ATAC-STARR-seq lymphoblastoid silent region 1056 [Gene]
  • LOC129930913:ATAC-STARR-seq lymphoblastoid silent region 1057 [Gene]
  • LOC129930914:ATAC-STARR-seq lymphoblastoid silent region 1058 [Gene]
  • LOC129930915:ATAC-STARR-seq lymphoblastoid silent region 1060 [Gene]
  • LOC129930917:ATAC-STARR-seq lymphoblastoid silent region 1063 [Gene]
  • LOC129930919:ATAC-STARR-seq lymphoblastoid silent region 1066 [Gene]
  • LOC129930931:ATAC-STARR-seq lymphoblastoid silent region 1070 [Gene]
  • LOC129930932:ATAC-STARR-seq lymphoblastoid silent region 1074 [Gene]
  • LOC129930933:ATAC-STARR-seq lymphoblastoid silent region 1075 [Gene]
  • LOC129930936:ATAC-STARR-seq lymphoblastoid silent region 1076 [Gene]
  • LOC129930937:ATAC-STARR-seq lymphoblastoid silent region 1077 [Gene]
  • LOC129930943:ATAC-STARR-seq lymphoblastoid silent region 1078 [Gene]
  • LOC129930944:ATAC-STARR-seq lymphoblastoid silent region 1079 [Gene]
  • LOC129930946:ATAC-STARR-seq lymphoblastoid silent region 1080 [Gene]
  • LOC129930948:ATAC-STARR-seq lymphoblastoid silent region 1081 [Gene]
  • LOC129930950:ATAC-STARR-seq lymphoblastoid silent region 1082 [Gene]
  • LOC129930956:ATAC-STARR-seq lymphoblastoid silent region 1084 [Gene]
  • LOC129930960:ATAC-STARR-seq lymphoblastoid silent region 1085 [Gene]
  • LOC129930965:ATAC-STARR-seq lymphoblastoid silent region 1086 [Gene]
  • LOC129930966:ATAC-STARR-seq lymphoblastoid silent region 1087 [Gene]
  • LOC129930968:ATAC-STARR-seq lymphoblastoid silent region 1089 [Gene]
  • LOC129930969:ATAC-STARR-seq lymphoblastoid silent region 1090 [Gene]
  • LOC129930970:ATAC-STARR-seq lymphoblastoid silent region 1091 [Gene]
  • LOC129930972:ATAC-STARR-seq lymphoblastoid silent region 1092 [Gene]
  • LOC129930973:ATAC-STARR-seq lymphoblastoid silent region 1093 [Gene]
  • LOC129930974:ATAC-STARR-seq lymphoblastoid silent region 1094 [Gene]
  • LOC129930975:ATAC-STARR-seq lymphoblastoid silent region 1095 [Gene]
  • LOC129930978:ATAC-STARR-seq lymphoblastoid silent region 1097 [Gene]
  • LOC129930979:ATAC-STARR-seq lymphoblastoid silent region 1098 [Gene]
  • LOC129930981:ATAC-STARR-seq lymphoblastoid silent region 1099 [Gene]
  • LOC129930984:ATAC-STARR-seq lymphoblastoid silent region 1100 [Gene]
  • LOC129930985:ATAC-STARR-seq lymphoblastoid silent region 1101 [Gene]
  • LOC129930986:ATAC-STARR-seq lymphoblastoid silent region 1102 [Gene]
  • LOC129930991:ATAC-STARR-seq lymphoblastoid silent region 1104 [Gene]
  • LOC129930992:ATAC-STARR-seq lymphoblastoid silent region 1105 [Gene]
  • LOC129930993:ATAC-STARR-seq lymphoblastoid silent region 1106 [Gene]
  • LOC129930994:ATAC-STARR-seq lymphoblastoid silent region 1107 [Gene]
  • LOC129930995:ATAC-STARR-seq lymphoblastoid silent region 1108 [Gene]
  • LOC129930998:ATAC-STARR-seq lymphoblastoid silent region 1109 [Gene]
  • LOC129930999:ATAC-STARR-seq lymphoblastoid silent region 1110 [Gene]
  • LOC129931000:ATAC-STARR-seq lymphoblastoid silent region 1111 [Gene]
  • LOC129931001:ATAC-STARR-seq lymphoblastoid silent region 1112 [Gene]
  • LOC129931002:ATAC-STARR-seq lymphoblastoid silent region 1113 [Gene]
  • LOC129931010:ATAC-STARR-seq lymphoblastoid silent region 1115 [Gene]
  • LOC129931013:ATAC-STARR-seq lymphoblastoid silent region 1117 [Gene]
  • LOC129931024:ATAC-STARR-seq lymphoblastoid silent region 1119 [Gene]
  • LOC129931025:ATAC-STARR-seq lymphoblastoid silent region 1120 [Gene]
  • LOC129931034:ATAC-STARR-seq lymphoblastoid silent region 1122 [Gene]
  • LOC129931035:ATAC-STARR-seq lymphoblastoid silent region 1123 [Gene]
  • LOC129931036:ATAC-STARR-seq lymphoblastoid silent region 1124 [Gene]
  • LOC129931047:ATAC-STARR-seq lymphoblastoid silent region 1125 [Gene]
  • LOC129931057:ATAC-STARR-seq lymphoblastoid silent region 1126 [Gene]
  • LOC129931059:ATAC-STARR-seq lymphoblastoid silent region 1127 [Gene]
  • LOC129931061:ATAC-STARR-seq lymphoblastoid silent region 1128 [Gene]
  • ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]
  • ABCD3:ATP binding cassette subfamily D member 3 [Gene - OMIM - HGNC]
  • BCAR3:BCAR3 adaptor protein, NSP family member [Gene - OMIM - HGNC]
  • BCAR3-AS1:BCAR3 antisense RNA 1 [Gene - HGNC]
  • BCL10-AS1:BCL10 antisense RNA 1 [Gene - HGNC]
  • BCL10:BCL10 immune signaling adaptor [Gene - OMIM - HGNC]
  • LOC126805807:BRD4-independent group 4 enhancer GRCh37_chr1:101177825-101179024 [Gene]
  • LOC126805813:BRD4-independent group 4 enhancer GRCh37_chr1:102676249-102677448 [Gene]
  • LOC126805778:BRD4-independent group 4 enhancer GRCh37_chr1:88153692-88154891 [Gene]
  • LOC126805782:BRD4-independent group 4 enhancer GRCh37_chr1:89267398-89268597 [Gene]
  • LOC126805784:BRD4-independent group 4 enhancer GRCh37_chr1:89521826-89523025 [Gene]
  • LOC126805786:BRD4-independent group 4 enhancer GRCh37_chr1:90876847-90878046 [Gene]
  • LOC126805794:BRD4-independent group 4 enhancer GRCh37_chr1:94502188-94503387 [Gene]
  • LOC126805795:BRD4-independent group 4 enhancer GRCh37_chr1:94533422-94534621 [Gene]
  • LOC126805798:BRD4-independent group 4 enhancer GRCh37_chr1:95302044-95303243 [Gene]
  • LOC126805799:BRD4-independent group 4 enhancer GRCh37_chr1:95376115-95377314 [Gene]
  • LOC126805806:BRD4-independent group 4 enhancer GRCh37_chr1:99839496-99840695 [Gene]
  • BTBD8:BTB domain containing 8 [Gene - OMIM - HGNC]
  • BARHL2:BarH like homeobox 2 [Gene - OMIM - HGNC]
  • CCDC18-AS1:CCDC18 antisense RNA 1 [Gene - HGNC]
  • LOC126805809:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:101490870-101492069 [Gene]
  • LOC126805811:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:101918390-101919589 [Gene]
  • LOC126805812:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:102129620-102130819 [Gene]
  • LOC126805769:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:84621187-84622386 [Gene]
  • LOC126805771:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:85741508-85742707 [Gene]
  • LOC126805772:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:85754924-85756123 [Gene]
  • LOC126805773:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:85960912-85962111 [Gene]
  • LOC126805777:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:88079486-88080685 [Gene]
  • LOC126805780:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:88641175-88642374 [Gene]
  • LOC126805783:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:89487936-89489135 [Gene]
  • LOC126805785:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:89614414-89615613 [Gene]
  • LOC126805788:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:92202312-92203511 [Gene]
  • LOC126805793:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501 [Gene]
  • LOC126805805:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:99770787-99771986 [Gene]
  • CLCA4-AS1:CLCA4 antisense RNA 1 [Gene - HGNC]
  • CNN3-DT:CNN3 divergent transcript [Gene - HGNC]
  • LOC115801431:CRISPRi-validated cis-regulatory element chr1.7351 [Gene]
  • LOC115801432:CRISPRi-validated cis-regulatory element chr1.7352 [Gene]
  • LOC115801433:CRISPRi-validated cis-regulatory element chr1.7353 [Gene]
  • LOC115801434:CRISPRi-validated cis-regulatory element chr1.7357 [Gene]
  • LOC115801435:CRISPRi-validated cis-regulatory element chr1.7358 [Gene]
  • LOC115801436:CRISPRi-validated cis-regulatory element chr1.7359 [Gene]
  • DPH5-DT:DPH5 divergent transcript [Gene - HGNC]
  • DPYD-AS1:DPYD antisense RNA 1 [Gene - HGNC]
  • DPYD-AS2:DPYD antisense RNA 2 [Gene - HGNC]
  • GNG5:G protein subunit gamma 5 [Gene - OMIM - HGNC]
  • GPR88:G protein-coupled receptor 88 [Gene - OMIM - HGNC]
  • LOC111556158:HNF4 motif-containing MPRA enhancer 127 [Gene]
  • LMO4:LIM domain only 4 [Gene - OMIM - HGNC]
  • LRRC8C-DT:LRRC8C divergent transcript [Gene - HGNC]
  • LRRC8D-DT:LRRC8D divergent transcript [Gene - HGNC]
  • LOC126805808:MED14-independent group 3 enhancer GRCh37_chr1:101301135-101302334 [Gene]
  • LOC126805775:MED14-independent group 3 enhancer GRCh37_chr1:87113290-87114489 [Gene]
  • LOC126805776:MED14-independent group 3 enhancer GRCh37_chr1:87239295-87240494 [Gene]
  • LOC126805779:MED14-independent group 3 enhancer GRCh37_chr1:88500769-88501968 [Gene]
  • LOC126805781:MED14-independent group 3 enhancer GRCh37_chr1:89239743-89240942 [Gene]
  • LOC126805789:MED14-independent group 3 enhancer GRCh37_chr1:94127441-94128640 [Gene]
  • LOC126805791:MED14-independent group 3 enhancer GRCh37_chr1:94166702-94167901 [Gene]
  • LOC126805800:MED14-independent group 3 enhancer GRCh37_chr1:96207937-96209136 [Gene]
  • LOC126805802:MED14-independent group 3 enhancer GRCh37_chr1:98789036-98790235 [Gene]
  • LOC126805803:MED14-independent group 3 enhancer GRCh37_chr1:98816624-98817823 [Gene]
  • LOC126805804:MED14-independent group 3 enhancer GRCh37_chr1:98981623-98982822 [Gene]
  • MIR137HG:MIR137 host gene [Gene - HGNC]
  • LOC129388556:MPRA-validated peak299 silencer [Gene]
  • LOC129388557:MPRA-validated peak307 silencer [Gene]
  • LOC129388558:MPRA-validated peak312 silencer [Gene]
  • LOC129388559:MPRA-validated peak313 silencer [Gene]
  • LOC129388560:MPRA-validated peak316 silencer [Gene]
  • LOC129388561:MPRA-validated peak321 silencer [Gene]
  • LOC129388562:MPRA-validated peak323 silencer [Gene]
  • LOC129388563:MPRA-validated peak324 silencer [Gene]
  • LOC129388564:MPRA-validated peak325 silencer [Gene]
  • LOC129388565:MPRA-validated peak328 silencer [Gene]
  • LOC129388566:MPRA-validated peak335 silencer [Gene]
  • LOC129388567:MPRA-validated peak338 silencer [Gene]
  • LOC129388568:MPRA-validated peak339 silencer [Gene]
  • LOC132088738:Neanderthal introgressed variant-containing enhancer experimental_9272 [Gene]
  • LOC132088739:Neanderthal introgressed variant-containing enhancer experimental_9316 [Gene]
  • LOC132088740:Neanderthal introgressed variant-containing enhancer experimental_9389 [Gene]
  • LOC132088741:Neanderthal introgressed variant-containing enhancer experimental_9402 [Gene]
  • LOC132088742:Neanderthal introgressed variant-containing enhancer experimental_9414 [Gene]
  • LOC132090665:Neanderthal introgressed variant-containing enhancer experimental_9432 [Gene]
  • LOC132088743:Neanderthal introgressed variant-containing enhancer experimental_9445 [Gene]
  • LOC132088745:Neanderthal introgressed variant-containing enhancer experimental_9486 [Gene]
  • LOC132088747:Neanderthal introgressed variant-containing enhancer experimental_9624 [Gene]
  • LOC126805810:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:101724915-101726114 [Gene]
  • LOC126805814:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:103344928-103346127 [Gene]
  • LOC126805770:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:84830842-84832041 [Gene]
  • LOC126805774:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:86072656-86073855 [Gene]
  • LOC126805787:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:92047752-92048951 [Gene]
  • LOC126805790:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:94158555-94159754 [Gene]
  • LOC126805792:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:94203124-94204323 [Gene]
  • LOC126805796:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:94736061-94737260 [Gene]
  • LOC126805797:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:95070951-95072150 [Gene]
  • LOC126805801:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:96828291-96829490 [Gene]
  • PKN2-AS1:PKN2 antisense RNA 1 [Gene - HGNC]
  • PLPPR5-AS1:PLPPR5 antisense RNA 1 [Gene - HGNC]
  • RBMXL1:RBMX like 1 [Gene - HGNC]
  • RTCA:RNA 3'-terminal phosphate cyclase [Gene - OMIM - HGNC]
  • RNPC3:RNA binding region (RNP1, RRM) containing 3 [Gene - OMIM - HGNC]
  • RPAP2:RNA polymerase II associated protein 2 [Gene - OMIM - HGNC]
  • RNPC3-DT:RNPC3 divergent transcript [Gene - HGNC]
  • RTCA-AS1:RTCA antisense RNA 1 [Gene - HGNC]
  • RWDD3:RWD domain containing 3 [Gene - OMIM - HGNC]
  • RWDD3-DT:RWDD3 divergent transcript [Gene - HGNC]
  • ARHGAP29:Rho GTPase activating protein 29 [Gene - OMIM - HGNC]
  • S1PR1-DT:S1PR1 divergent transcript [Gene - HGNC]
  • SASS6:SAS-6 centriolar assembly protein [Gene - OMIM - HGNC]
  • SETSIP:SET like protein [Gene - HGNC]
  • SH3GLB1:SH3 domain containing GRB2 like, endophilin B1 [Gene - OMIM - HGNC]
  • SLC44A3-AS1:SLC44A3 antisense RNA 1 [Gene - HGNC]
  • SSX2IP:SSX family member 2 interacting protein [Gene - OMIM - HGNC]
  • LOC122094883:Sharpr-MPRA regulatory region 10093 [Gene]
  • LOC121725040:Sharpr-MPRA regulatory region 10321 [Gene]
  • LOC122094862:Sharpr-MPRA regulatory region 10367 [Gene]
  • LOC121725039:Sharpr-MPRA regulatory region 11191 [Gene]
  • LOC122094871:Sharpr-MPRA regulatory region 11866 [Gene]
  • LOC122094868:Sharpr-MPRA regulatory region 12717 [Gene]
  • LOC122094865:Sharpr-MPRA regulatory region 12731 [Gene]
  • LOC122094867:Sharpr-MPRA regulatory region 13174 [Gene]
  • LOC121725036:Sharpr-MPRA regulatory region 13288 [Gene]
  • LOC122094885:Sharpr-MPRA regulatory region 13340 [Gene]
  • LOC122094880:Sharpr-MPRA regulatory region 13515 [Gene]
  • LOC122094872:Sharpr-MPRA regulatory region 13550 [Gene]
  • LOC112590827:Sharpr-MPRA regulatory region 13810 [Gene]
  • LOC122094861:Sharpr-MPRA regulatory region 13956 [Gene]
  • LOC122094859:Sharpr-MPRA regulatory region 1395 [Gene]
  • LOC122094863:Sharpr-MPRA regulatory region 14100 [Gene]
  • LOC122094886:Sharpr-MPRA regulatory region 14415 [Gene]
  • LOC122094876:Sharpr-MPRA regulatory region 14437 [Gene]
  • LOC122094882:Sharpr-MPRA regulatory region 14613 [Gene]
  • LOC122094890:Sharpr-MPRA regulatory region 14885 [Gene]
  • LOC122094879:Sharpr-MPRA regulatory region 15484 [Gene]
  • LOC120893147:Sharpr-MPRA regulatory region 2220 [Gene]
  • LOC120893148:Sharpr-MPRA regulatory region 2368 [Gene]
  • LOC121725041:Sharpr-MPRA regulatory region 2553 [Gene]
  • LOC121725035:Sharpr-MPRA regulatory region 3408 [Gene]
  • LOC121725037:Sharpr-MPRA regulatory region 3870 [Gene]
  • LOC120893144:Sharpr-MPRA regulatory region 4548 [Gene]
  • LOC112590826:Sharpr-MPRA regulatory region 4673 [Gene]
  • LOC122094860:Sharpr-MPRA regulatory region 4932 [Gene]
  • LOC122094875:Sharpr-MPRA regulatory region 5000 [Gene]
  • LOC120893146:Sharpr-MPRA regulatory region 5145 [Gene]
  • LOC122094888:Sharpr-MPRA regulatory region 5182 [Gene]
  • LOC112590824:Sharpr-MPRA regulatory region 5313 [Gene]
  • LOC122094869:Sharpr-MPRA regulatory region 5366 [Gene]
  • LOC122094856:Sharpr-MPRA regulatory region 5400 [Gene]
  • LOC113939989:Sharpr-MPRA regulatory region 5460 [Gene]
  • LOC122094887:Sharpr-MPRA regulatory region 5467 [Gene]
  • LOC121725042:Sharpr-MPRA regulatory region 5488 [Gene]
  • LOC122094884:Sharpr-MPRA regulatory region 5706 [Gene]
  • LOC121725038:Sharpr-MPRA regulatory region 610 [Gene]
  • LOC122094889:Sharpr-MPRA regulatory region 6134 [Gene]
  • LOC122094866:Sharpr-MPRA regulatory region 6980 [Gene]
  • LOC122094877:Sharpr-MPRA regulatory region 7015 [Gene]
  • LOC122094864:Sharpr-MPRA regulatory region 7299 [Gene]
  • LOC122094870:Sharpr-MPRA regulatory region 7481 [Gene]
  • LOC122094873:Sharpr-MPRA regulatory region 755 [Gene]
  • LOC120893145:Sharpr-MPRA regulatory region 874 [Gene]
  • LOC122094857:Sharpr-MPRA regulatory region 8792 [Gene]
  • LOC122094874:Sharpr-MPRA regulatory region 8830 [Gene]
  • LOC122094858:Sharpr-MPRA regulatory region 9281 [Gene]
  • LOC122094881:Sharpr-MPRA regulatory region 9288 [Gene]
  • LOC122094878:Sharpr-MPRA regulatory region 980 [Gene]
  • LOC112590828:Sharpr-MPRA regulatory region 9909 [Gene]
  • TLCD4:TLC domain containing 4 [Gene - HGNC]
  • TLCD4-RWDD3:TLCD4-RWDD3 readthrough [Gene - HGNC]
  • TTLL7-IT1:TTLL7 intronic transcript 1 [Gene - HGNC]
  • LOC110120959:VISTA enhancer hs1002 [Gene]
  • LOC110120990:VISTA enhancer hs1107 [Gene]
  • LOC110121010:VISTA enhancer hs1161 [Gene]
  • LOC110121023:VISTA enhancer hs1198 [Gene]
  • LOC110121031:VISTA enhancer hs1217 [Gene]
  • LOC110120664:VISTA enhancer hs327 [Gene]
  • LOC110120716:VISTA enhancer hs612 [Gene]
  • LOC110120739:VISTA enhancer hs671 [Gene]
  • LOC110120776:VISTA enhancer hs809 [Gene]
  • LOC110120795:VISTA enhancer hs878 [Gene]
  • LOC110120602:VISTA enhancers hs174 and hs322 [Gene]
  • AMY1A:amylase alpha 1A [Gene - OMIM - HGNC]
  • AMY1B:amylase alpha 1B [Gene - OMIM - HGNC]
  • AMY1C:amylase alpha 1C [Gene - OMIM - HGNC]
  • AMY2A:amylase alpha 2A [Gene - OMIM - HGNC]
  • AMY2B:amylase alpha 2B [Gene - OMIM - HGNC]
  • AGL:amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [Gene - OMIM - HGNC]
  • BRDT:bromodomain testis associated [Gene - OMIM - HGNC]
  • CNN3:calponin 3 [Gene - OMIM - HGNC]
  • CDC14A:cell division cycle 14A [Gene - OMIM - HGNC]
  • CDC7:cell division cycle 7 [Gene - OMIM - HGNC]
  • CCN1:cellular communication network factor 1 [Gene - OMIM - HGNC]
  • CTBS:chitobiase [Gene - OMIM - HGNC]
  • CLCA1:chloride channel accessory 1 [Gene - OMIM - HGNC]
  • CLCA2:chloride channel accessory 2 [Gene - OMIM - HGNC]
  • CLCA4:chloride channel accessory 4 [Gene - OMIM - HGNC]
  • C1orf146:chromosome 1 open reading frame 146 [Gene - OMIM - HGNC]
  • C1orf52:chromosome 1 open reading frame 52 [Gene - HGNC]
  • F3:coagulation factor III, tissue factor [Gene - OMIM - HGNC]
  • CCDC18:coiled-coil domain containing 18 [Gene - HGNC]
  • COL11A1:collagen type XI alpha 1 chain [Gene - OMIM - HGNC]
  • COL24A1:collagen type XXIV alpha 1 chain [Gene - OMIM - HGNC]
  • DNTTIP2:deoxynucleotidyltransferase terminal interacting protein 2 [Gene - OMIM - HGNC]
  • DNASE2B:deoxyribonuclease 2 beta [Gene - OMIM - HGNC]
  • DBT:dihydrolipoamide branched chain transacylase E2 [Gene - OMIM - HGNC]
  • DPYD:dihydropyrimidine dehydrogenase [Gene - OMIM - HGNC]
  • DDAH1:dimethylarginine dimethylaminohydrolase 1 [Gene - OMIM - HGNC]
  • DPH5:diphthamide biosynthesis 5 [Gene - OMIM - HGNC]
  • DIPK1A:divergent protein kinase domain 1A [Gene - OMIM - HGNC]
  • DR1:down-regulator of transcription 1 [Gene - OMIM - HGNC]
  • DNAI3:dynein axonemal intermediate chain 3 [Gene - OMIM - HGNC]
  • EVI5:ecotropic viral integration site 5 [Gene - OMIM - HGNC]
  • EPHX4:epoxide hydrolase 4 [Gene - OMIM - HGNC]
  • EXTL2:exostosin like glycosyltransferase 2 [Gene - OMIM - HGNC]
  • FRRS1:ferric chelate reductase 1 [Gene - OMIM - HGNC]
  • FNBP1L:formin binding protein 1 like [Gene - OMIM - HGNC]
  • GTF2B:general transcription factor IIB [Gene - OMIM - HGNC]
  • GLMN:glomulin, FKBP associated protein [Gene - OMIM - HGNC]
  • GCLM:glutamate-cysteine ligase modifier subunit [Gene - OMIM - HGNC]
  • GFI1:growth factor independent 1 transcriptional repressor [Gene - OMIM - HGNC]
  • GBP1:guanylate binding protein 1 [Gene - OMIM - HGNC]
  • GBP2:guanylate binding protein 2 [Gene - OMIM - HGNC]
  • GBP3:guanylate binding protein 3 [Gene - OMIM - HGNC]
  • GBP4:guanylate binding protein 4 [Gene - OMIM - HGNC]
  • GBP5:guanylate binding protein 5 [Gene - OMIM - HGNC]
  • GBP7:guanylate binding protein 7 [Gene - OMIM - HGNC]
  • GBP6:guanylate binding protein family member 6 [Gene - OMIM - HGNC]
  • HFM1:helicase for meiosis 1 [Gene - OMIM - HGNC]
  • HS2ST1:heparan sulfate 2-O-sulfotransferase 1 [Gene - OMIM - HGNC]
  • KYAT3:kynurenine aminotransferase 3 [Gene - OMIM - HGNC]
  • LRRC39:leucine rich repeat containing 39 [Gene - HGNC]
  • LRRC8B:leucine rich repeat containing 8 VRAC subunit B [Gene - OMIM - HGNC]
  • LRRC8C:leucine rich repeat containing 8 VRAC subunit C [Gene - OMIM - HGNC]
  • LRRC8D:leucine rich repeat containing 8 VRAC subunit D [Gene - OMIM - HGNC]
  • LINC01140:long intergenic non-protein coding RNA 1140 [Gene - HGNC]
  • LINC01307:long intergenic non-protein coding RNA 1307 [Gene - HGNC]
  • LINC01349:long intergenic non-protein coding RNA 1349 [Gene - HGNC]
  • LINC01364:long intergenic non-protein coding RNA 1364 [Gene - HGNC]
  • LINC01461:long intergenic non-protein coding RNA 1461 [Gene - HGNC]
  • LINC01555:long intergenic non-protein coding RNA 1555 [Gene - HGNC]
  • LINC01650:long intergenic non-protein coding RNA 1650 [Gene - HGNC]
  • LINC01708:long intergenic non-protein coding RNA 1708 [Gene - HGNC]
  • LINC01709:long intergenic non-protein coding RNA 1709 [Gene - HGNC]
  • LINC01725:long intergenic non-protein coding RNA 1725 [Gene - HGNC]
  • LINC01760:long intergenic non-protein coding RNA 1760 [Gene - HGNC]
  • LINC01761:long intergenic non-protein coding RNA 1761 [Gene - HGNC]
  • LINC01763:long intergenic non-protein coding RNA 1763 [Gene - HGNC]
  • LINC01776:long intergenic non-protein coding RNA 1776 [Gene - HGNC]
  • LINC01787:long intergenic non-protein coding RNA 1787 [Gene - HGNC]
  • LINC01930:long intergenic non-protein coding RNA 1930 [Gene - HGNC]
  • LINC02607:long intergenic non-protein coding RNA 2607 [Gene - HGNC]
  • LINC02609:long intergenic non-protein coding RNA 2609 [Gene - HGNC]
  • LINC02787:long intergenic non-protein coding RNA 2787 [Gene - HGNC]
  • LINC02788:long intergenic non-protein coding RNA 2788 [Gene - HGNC]
  • LINC02790:long intergenic non-protein coding RNA 2790 [Gene - HGNC]
  • LINC02795:long intergenic non-protein coding RNA 2795 [Gene - HGNC]
  • LINC02801:long intergenic non-protein coding RNA 2801 [Gene - HGNC]
  • LPAR3:lysophosphatidic acid receptor 3 [Gene - OMIM - HGNC]
  • MFSD14A:major facilitator superfamily domain containing 14A [Gene - OMIM - HGNC]
  • LOC107457601:meiotic recombination hotspot Q [Gene]
  • MTF2:metal response element binding transcription factor 2 [Gene - OMIM - HGNC]
  • MIR12133:microRNA 12133 [Gene - HGNC]
  • MIR137:microRNA 137 [Gene - OMIM - HGNC]
  • MIR2682:microRNA 2682 [Gene - HGNC]
  • MIR378G:microRNA 378g [Gene - HGNC]
  • MIR4423:microRNA 4423 [Gene - HGNC]
  • MIR553:microRNA 553 [Gene - HGNC]
  • MIR760:microRNA 760 [Gene - HGNC]
  • MIR7856:microRNA 7856 [Gene - HGNC]
  • MCOLN2:mucolipin TRP cation channel 2 [Gene - OMIM - HGNC]
  • MCOLN3:mucolipin TRP cation channel 3 [Gene - OMIM - HGNC]
  • OLFM3:olfactomedin 3 [Gene - OMIM - HGNC]
  • ODF2L:outer dense fiber of sperm tails 2 like [Gene - OMIM - HGNC]
  • PALMD:palmdelphin [Gene - OMIM - HGNC]
  • PLPPR4:phospholipid phosphatase related 4 [Gene - OMIM - HGNC]
  • PLPPR5:phospholipid phosphatase related 5 [Gene - OMIM - HGNC]
  • PTBP2:polypyrimidine tract binding protein 2 [Gene - OMIM - HGNC]
  • PKN2:protein kinase N2 [Gene - OMIM - HGNC]
  • PRKACB:protein kinase cAMP-activated catalytic subunit beta [Gene - OMIM - HGNC]
  • RPL5:ribosomal protein L5 [Gene - OMIM - HGNC]
  • RPF1:ribosome production factor 1 homolog [Gene - HGNC]
  • SELENOF:selenoprotein F [Gene - OMIM - HGNC]
  • SNORD21:small nucleolar RNA, C/D box 21 [Gene - OMIM - HGNC]
  • SNORD3G:small nucleolar RNA, C/D box 3G [Gene - HGNC]
  • SNORA66:small nucleolar RNA, H/ACA box 66 [Gene - HGNC]
  • SLC30A7:solute carrier family 30 member 7 [Gene - OMIM - HGNC]
  • SLC35A3:solute carrier family 35 member A3 [Gene - OMIM - HGNC]
  • SLC44A3:solute carrier family 44 member 3 [Gene - OMIM - HGNC]
  • SNX7:sorting nexin 7 [Gene - OMIM - HGNC]
  • SPATA1:spermatogenesis associated 1 [Gene - HGNC]
  • S1PR1:sphingosine-1-phosphate receptor 1 [Gene - OMIM - HGNC]
  • SAMD13:sterile alpha motif domain containing 13 [Gene - OMIM - HGNC]
  • SYDE2:synapse defective Rho GTPase homolog 2 [Gene - HGNC]
  • TRMT13:tRNA methyltransferase 13 homolog [Gene - HGNC]
  • TRR-TCT1-1:tRNA-Arg (anticodon TCT) 1-1 [Gene - HGNC]
  • TRC-GCA7-1:tRNA-Cys (anticodon GCA) 7-1 [Gene - HGNC]
  • TGFBR3:transforming growth factor beta receptor 3 [Gene - OMIM - HGNC]
  • TMED5:transmembrane p24 trafficking protein 5 [Gene - OMIM - HGNC]
  • TTLL7:tubulin tyrosine ligase like 7 [Gene - OMIM - HGNC]
  • LOC101927560:uncharacterized LOC101927560 [Gene]
  • LOC128092251:uncharacterized LOC128092251 [Gene]
  • VCAM1:vascular cell adhesion molecule 1 [Gene - OMIM - HGNC]
  • ZNHIT6:zinc finger HIT-type containing 6 [Gene - OMIM - HGNC]
  • ZNF326:zinc finger protein 326 [Gene - OMIM - HGNC]
  • ZNF644:zinc finger protein 644 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1p31.1-21.1
Genomic location:
Preferred name:
GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3
HGVS:
  • NC_000001.11:g.(?_83457325)_(104273917_?)dup
  • NC_000001.10:g.(?_83923008)_(104816539_?)dup
  • NC_000001.9:g.(?_83695596)_(104618062_?)dup
Links:
dbVar: nssv706398; dbVar: nsv530496
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000175537ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Feb 18, 2011) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical 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, SCV000175537.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024