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GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 2010
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:
RCV000136913.5

Allele description

GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1

Genes:
  • ALG6:ALG6 alpha-1,3-glucosyltransferase [Gene - OMIM - HGNC]
  • ANKRD13C-DT:ANKRD13C divergent transcript [Gene - OMIM - HGNC]
  • LOC129930622:ATAC-STARR-seq lymphoblastoid active region 1092 [Gene]
  • LOC129930623:ATAC-STARR-seq lymphoblastoid active region 1093 [Gene]
  • LOC129930626:ATAC-STARR-seq lymphoblastoid active region 1094 [Gene]
  • LOC129930627:ATAC-STARR-seq lymphoblastoid active region 1095 [Gene]
  • LOC129930628:ATAC-STARR-seq lymphoblastoid active region 1096 [Gene]
  • LOC129930629:ATAC-STARR-seq lymphoblastoid active region 1097 [Gene]
  • LOC129930630:ATAC-STARR-seq lymphoblastoid active region 1098 [Gene]
  • LOC129930631:ATAC-STARR-seq lymphoblastoid active region 1099 [Gene]
  • LOC129930632:ATAC-STARR-seq lymphoblastoid active region 1100 [Gene]
  • LOC129930633:ATAC-STARR-seq lymphoblastoid active region 1101 [Gene]
  • LOC129930634:ATAC-STARR-seq lymphoblastoid active region 1102 [Gene]
  • LOC129930635:ATAC-STARR-seq lymphoblastoid active region 1103 [Gene]
  • LOC129930636:ATAC-STARR-seq lymphoblastoid active region 1104 [Gene]
  • LOC129930637:ATAC-STARR-seq lymphoblastoid active region 1105 [Gene]
  • LOC129930638:ATAC-STARR-seq lymphoblastoid active region 1106 [Gene]
  • LOC129930639:ATAC-STARR-seq lymphoblastoid active region 1107 [Gene]
  • LOC129930641:ATAC-STARR-seq lymphoblastoid active region 1108 [Gene]
  • LOC129930642:ATAC-STARR-seq lymphoblastoid active region 1109 [Gene]
  • LOC129930645:ATAC-STARR-seq lymphoblastoid active region 1110 [Gene]
  • LOC129930647:ATAC-STARR-seq lymphoblastoid active region 1111 [Gene]
  • LOC129930649:ATAC-STARR-seq lymphoblastoid active region 1112 [Gene]
  • LOC129930650:ATAC-STARR-seq lymphoblastoid active region 1113 [Gene]
  • LOC129930652:ATAC-STARR-seq lymphoblastoid active region 1115 [Gene]
  • LOC129930654:ATAC-STARR-seq lymphoblastoid active region 1118 [Gene]
  • LOC129930656:ATAC-STARR-seq lymphoblastoid active region 1119 [Gene]
  • LOC129930657:ATAC-STARR-seq lymphoblastoid active region 1120 [Gene]
  • LOC129930658:ATAC-STARR-seq lymphoblastoid active region 1121 [Gene]
  • LOC129930659:ATAC-STARR-seq lymphoblastoid active region 1122 [Gene]
  • LOC129930660:ATAC-STARR-seq lymphoblastoid active region 1123 [Gene]
  • LOC129930664:ATAC-STARR-seq lymphoblastoid active region 1124 [Gene]
  • LOC129930666:ATAC-STARR-seq lymphoblastoid active region 1125 [Gene]
  • LOC129930667:ATAC-STARR-seq lymphoblastoid active region 1126 [Gene]
  • LOC129930668:ATAC-STARR-seq lymphoblastoid active region 1127 [Gene]
  • LOC129930670:ATAC-STARR-seq lymphoblastoid active region 1128 [Gene]
  • LOC129930677:ATAC-STARR-seq lymphoblastoid active region 1129 [Gene]
  • LOC129930678:ATAC-STARR-seq lymphoblastoid active region 1130 [Gene]
  • LOC129930679:ATAC-STARR-seq lymphoblastoid active region 1131 [Gene]
  • LOC129930680:ATAC-STARR-seq lymphoblastoid active region 1132 [Gene]
  • LOC129930681:ATAC-STARR-seq lymphoblastoid active region 1133 [Gene]
  • LOC129930682:ATAC-STARR-seq lymphoblastoid active region 1134 [Gene]
  • LOC129930684:ATAC-STARR-seq lymphoblastoid active region 1135 [Gene]
  • LOC129930685:ATAC-STARR-seq lymphoblastoid active region 1136 [Gene]
  • LOC129930686:ATAC-STARR-seq lymphoblastoid active region 1137 [Gene]
  • LOC129930687:ATAC-STARR-seq lymphoblastoid active region 1138 [Gene]
  • LOC129930688:ATAC-STARR-seq lymphoblastoid active region 1139 [Gene]
  • LOC129930690:ATAC-STARR-seq lymphoblastoid active region 1140 [Gene]
  • LOC129930697:ATAC-STARR-seq lymphoblastoid active region 1141 [Gene]
  • LOC129930698:ATAC-STARR-seq lymphoblastoid active region 1142 [Gene]
  • LOC129930699:ATAC-STARR-seq lymphoblastoid active region 1143 [Gene]
  • LOC129930703:ATAC-STARR-seq lymphoblastoid active region 1144 [Gene]
  • LOC129930704:ATAC-STARR-seq lymphoblastoid active region 1145 [Gene]
  • LOC129930705:ATAC-STARR-seq lymphoblastoid active region 1146 [Gene]
  • LOC129930706:ATAC-STARR-seq lymphoblastoid active region 1147 [Gene]
  • LOC129930707:ATAC-STARR-seq lymphoblastoid active region 1148 [Gene]
  • LOC129930708:ATAC-STARR-seq lymphoblastoid active region 1149 [Gene]
  • LOC129930709:ATAC-STARR-seq lymphoblastoid active region 1150 [Gene]
  • LOC129930710:ATAC-STARR-seq lymphoblastoid active region 1151 [Gene]
  • LOC129930711:ATAC-STARR-seq lymphoblastoid active region 1152 [Gene]
  • LOC129930712:ATAC-STARR-seq lymphoblastoid active region 1153 [Gene]
  • LOC129930713:ATAC-STARR-seq lymphoblastoid active region 1154 [Gene]
  • LOC129930714:ATAC-STARR-seq lymphoblastoid active region 1155 [Gene]
  • LOC129930715:ATAC-STARR-seq lymphoblastoid active region 1156 [Gene]
  • LOC129930716:ATAC-STARR-seq lymphoblastoid active region 1157 [Gene]
  • LOC129930717:ATAC-STARR-seq lymphoblastoid active region 1158 [Gene]
  • LOC129930718:ATAC-STARR-seq lymphoblastoid active region 1159 [Gene]
  • LOC129930719:ATAC-STARR-seq lymphoblastoid active region 1160 [Gene]
  • LOC129930720:ATAC-STARR-seq lymphoblastoid active region 1164 [Gene]
  • LOC129930721:ATAC-STARR-seq lymphoblastoid active region 1165 [Gene]
  • LOC129930722:ATAC-STARR-seq lymphoblastoid active region 1166 [Gene]
  • LOC129930723:ATAC-STARR-seq lymphoblastoid active region 1167 [Gene]
  • LOC129930725:ATAC-STARR-seq lymphoblastoid active region 1168 [Gene]
  • LOC129930731:ATAC-STARR-seq lymphoblastoid active region 1169 [Gene]
  • LOC129930732:ATAC-STARR-seq lymphoblastoid active region 1170 [Gene]
  • LOC129930733:ATAC-STARR-seq lymphoblastoid active region 1171 [Gene]
  • LOC129930734:ATAC-STARR-seq lymphoblastoid active region 1172 [Gene]
  • LOC129930735:ATAC-STARR-seq lymphoblastoid active region 1173 [Gene]
  • LOC129930736:ATAC-STARR-seq lymphoblastoid active region 1174 [Gene]
  • LOC129930739:ATAC-STARR-seq lymphoblastoid active region 1175 [Gene]
  • LOC129930740:ATAC-STARR-seq lymphoblastoid active region 1176 [Gene]
  • LOC129930741:ATAC-STARR-seq lymphoblastoid active region 1177 [Gene]
  • LOC129930742:ATAC-STARR-seq lymphoblastoid active region 1180 [Gene]
  • LOC129930748:ATAC-STARR-seq lymphoblastoid active region 1183 [Gene]
  • LOC129930749:ATAC-STARR-seq lymphoblastoid active region 1184 [Gene]
  • LOC129930750:ATAC-STARR-seq lymphoblastoid active region 1185 [Gene]
  • LOC129930752:ATAC-STARR-seq lymphoblastoid active region 1186 [Gene]
  • LOC129930753:ATAC-STARR-seq lymphoblastoid active region 1187 [Gene]
  • LOC129930754:ATAC-STARR-seq lymphoblastoid active region 1193 [Gene]
  • LOC129930755:ATAC-STARR-seq lymphoblastoid active region 1194 [Gene]
  • LOC129930757:ATAC-STARR-seq lymphoblastoid active region 1195 [Gene]
  • LOC129930758:ATAC-STARR-seq lymphoblastoid active region 1196 [Gene]
  • LOC129930760:ATAC-STARR-seq lymphoblastoid active region 1197 [Gene]
  • LOC129930762:ATAC-STARR-seq lymphoblastoid active region 1198 [Gene]
  • LOC129930766:ATAC-STARR-seq lymphoblastoid active region 1199 [Gene]
  • LOC129930767:ATAC-STARR-seq lymphoblastoid active region 1201 [Gene]
  • LOC129930769:ATAC-STARR-seq lymphoblastoid active region 1202 [Gene]
  • LOC129930770:ATAC-STARR-seq lymphoblastoid active region 1203 [Gene]
  • LOC129930773:ATAC-STARR-seq lymphoblastoid active region 1204 [Gene]
  • LOC129930774:ATAC-STARR-seq lymphoblastoid active region 1205 [Gene]
  • LOC129930775:ATAC-STARR-seq lymphoblastoid active region 1206 [Gene]
  • LOC129930776:ATAC-STARR-seq lymphoblastoid active region 1207 [Gene]
  • LOC129930777:ATAC-STARR-seq lymphoblastoid active region 1208 [Gene]
  • LOC129930779:ATAC-STARR-seq lymphoblastoid active region 1209 [Gene]
  • LOC129930782:ATAC-STARR-seq lymphoblastoid active region 1210 [Gene]
  • LOC129930783:ATAC-STARR-seq lymphoblastoid active region 1212 [Gene]
  • LOC129930784:ATAC-STARR-seq lymphoblastoid active region 1213 [Gene]
  • LOC129930785:ATAC-STARR-seq lymphoblastoid active region 1214 [Gene]
  • LOC129930787:ATAC-STARR-seq lymphoblastoid active region 1215 [Gene]
  • LOC129930788:ATAC-STARR-seq lymphoblastoid active region 1216 [Gene]
  • LOC129930790:ATAC-STARR-seq lymphoblastoid active region 1218 [Gene]
  • LOC129930792:ATAC-STARR-seq lymphoblastoid active region 1219 [Gene]
  • LOC129930793:ATAC-STARR-seq lymphoblastoid active region 1220 [Gene]
  • LOC129930794:ATAC-STARR-seq lymphoblastoid active region 1221 [Gene]
  • LOC129930795:ATAC-STARR-seq lymphoblastoid active region 1222 [Gene]
  • LOC129930798:ATAC-STARR-seq lymphoblastoid active region 1223 [Gene]
  • LOC129930799:ATAC-STARR-seq lymphoblastoid active region 1224 [Gene]
  • LOC129930800:ATAC-STARR-seq lymphoblastoid active region 1225 [Gene]
  • LOC129930801:ATAC-STARR-seq lymphoblastoid active region 1226 [Gene]
  • LOC129930802:ATAC-STARR-seq lymphoblastoid active region 1227 [Gene]
  • LOC129930803:ATAC-STARR-seq lymphoblastoid active region 1228 [Gene]
  • LOC129930804:ATAC-STARR-seq lymphoblastoid active region 1229 [Gene]
  • LOC129930805:ATAC-STARR-seq lymphoblastoid active region 1230 [Gene]
  • LOC129930806:ATAC-STARR-seq lymphoblastoid active region 1231 [Gene]
  • LOC129930807:ATAC-STARR-seq lymphoblastoid active region 1232 [Gene]
  • LOC129930808:ATAC-STARR-seq lymphoblastoid active region 1233 [Gene]
  • LOC129930809:ATAC-STARR-seq lymphoblastoid active region 1234 [Gene]
  • LOC129930810:ATAC-STARR-seq lymphoblastoid active region 1235 [Gene]
  • LOC129930811:ATAC-STARR-seq lymphoblastoid active region 1236 [Gene]
  • LOC129930812:ATAC-STARR-seq lymphoblastoid active region 1237 [Gene]
  • LOC129930813:ATAC-STARR-seq lymphoblastoid active region 1238 [Gene]
  • LOC129930814:ATAC-STARR-seq lymphoblastoid active region 1239 [Gene]
  • LOC129930815:ATAC-STARR-seq lymphoblastoid active region 1240 [Gene]
  • LOC129930817:ATAC-STARR-seq lymphoblastoid active region 1241 [Gene]
  • 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]
  • LOC129930781:ATAC-STARR-seq lymphoblastoid silent region 1000 [Gene]
  • LOC129930786:ATAC-STARR-seq lymphoblastoid silent region 1001 [Gene]
  • LOC129930789:ATAC-STARR-seq lymphoblastoid silent region 1002 [Gene]
  • LOC129930791:ATAC-STARR-seq lymphoblastoid silent region 1004 [Gene]
  • LOC129930796:ATAC-STARR-seq lymphoblastoid silent region 1005 [Gene]
  • LOC129930797:ATAC-STARR-seq lymphoblastoid silent region 1006 [Gene]
  • LOC129930816:ATAC-STARR-seq lymphoblastoid silent region 1007 [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]
  • LOC129930624:ATAC-STARR-seq lymphoblastoid silent region 937 [Gene]
  • LOC129930625:ATAC-STARR-seq lymphoblastoid silent region 938 [Gene]
  • LOC129930640:ATAC-STARR-seq lymphoblastoid silent region 939 [Gene]
  • LOC129930643:ATAC-STARR-seq lymphoblastoid silent region 940 [Gene]
  • LOC129930644:ATAC-STARR-seq lymphoblastoid silent region 941 [Gene]
  • LOC129930646:ATAC-STARR-seq lymphoblastoid silent region 942 [Gene]
  • LOC129930648:ATAC-STARR-seq lymphoblastoid silent region 943 [Gene]
  • LOC129930651:ATAC-STARR-seq lymphoblastoid silent region 944 [Gene]
  • LOC129930653:ATAC-STARR-seq lymphoblastoid silent region 945 [Gene]
  • LOC129930655:ATAC-STARR-seq lymphoblastoid silent region 946 [Gene]
  • LOC129930661:ATAC-STARR-seq lymphoblastoid silent region 947 [Gene]
  • LOC129930662:ATAC-STARR-seq lymphoblastoid silent region 948 [Gene]
  • LOC129930663:ATAC-STARR-seq lymphoblastoid silent region 949 [Gene]
  • LOC129930665:ATAC-STARR-seq lymphoblastoid silent region 950 [Gene]
  • LOC129930669:ATAC-STARR-seq lymphoblastoid silent region 951 [Gene]
  • LOC129930671:ATAC-STARR-seq lymphoblastoid silent region 952 [Gene]
  • LOC129930672:ATAC-STARR-seq lymphoblastoid silent region 953 [Gene]
  • LOC129930673:ATAC-STARR-seq lymphoblastoid silent region 954 [Gene]
  • LOC129930674:ATAC-STARR-seq lymphoblastoid silent region 955 [Gene]
  • LOC129930675:ATAC-STARR-seq lymphoblastoid silent region 956 [Gene]
  • LOC129930676:ATAC-STARR-seq lymphoblastoid silent region 957 [Gene]
  • LOC129930683:ATAC-STARR-seq lymphoblastoid silent region 958 [Gene]
  • LOC129930689:ATAC-STARR-seq lymphoblastoid silent region 959 [Gene]
  • LOC129930691:ATAC-STARR-seq lymphoblastoid silent region 960 [Gene]
  • LOC129930692:ATAC-STARR-seq lymphoblastoid silent region 961 [Gene]
  • LOC129930693:ATAC-STARR-seq lymphoblastoid silent region 962 [Gene]
  • LOC129930694:ATAC-STARR-seq lymphoblastoid silent region 963 [Gene]
  • LOC129930695:ATAC-STARR-seq lymphoblastoid silent region 964 [Gene]
  • LOC129930696:ATAC-STARR-seq lymphoblastoid silent region 965 [Gene]
  • LOC129930700:ATAC-STARR-seq lymphoblastoid silent region 968 [Gene]
  • LOC129930701:ATAC-STARR-seq lymphoblastoid silent region 969 [Gene]
  • LOC129930702:ATAC-STARR-seq lymphoblastoid silent region 970 [Gene]
  • LOC129930724:ATAC-STARR-seq lymphoblastoid silent region 973 [Gene]
  • LOC129930726:ATAC-STARR-seq lymphoblastoid silent region 974 [Gene]
  • LOC129930727:ATAC-STARR-seq lymphoblastoid silent region 975 [Gene]
  • LOC129930728:ATAC-STARR-seq lymphoblastoid silent region 976 [Gene]
  • LOC129930729:ATAC-STARR-seq lymphoblastoid silent region 977 [Gene]
  • LOC129930730:ATAC-STARR-seq lymphoblastoid silent region 978 [Gene]
  • LOC129930737:ATAC-STARR-seq lymphoblastoid silent region 979 [Gene]
  • LOC129930738:ATAC-STARR-seq lymphoblastoid silent region 980 [Gene]
  • LOC129930743:ATAC-STARR-seq lymphoblastoid silent region 981 [Gene]
  • LOC129930744:ATAC-STARR-seq lymphoblastoid silent region 982 [Gene]
  • LOC129930745:ATAC-STARR-seq lymphoblastoid silent region 983 [Gene]
  • LOC129930746:ATAC-STARR-seq lymphoblastoid silent region 984 [Gene]
  • LOC129930747:ATAC-STARR-seq lymphoblastoid silent region 986 [Gene]
  • LOC129930751:ATAC-STARR-seq lymphoblastoid silent region 987 [Gene]
  • LOC129930756:ATAC-STARR-seq lymphoblastoid silent region 989 [Gene]
  • LOC129930759:ATAC-STARR-seq lymphoblastoid silent region 990 [Gene]
  • LOC129930761:ATAC-STARR-seq lymphoblastoid silent region 991 [Gene]
  • LOC129930763:ATAC-STARR-seq lymphoblastoid silent region 992 [Gene]
  • LOC129930764:ATAC-STARR-seq lymphoblastoid silent region 993 [Gene]
  • LOC129930765:ATAC-STARR-seq lymphoblastoid silent region 994 [Gene]
  • LOC129930768:ATAC-STARR-seq lymphoblastoid silent region 995 [Gene]
  • LOC129930771:ATAC-STARR-seq lymphoblastoid silent region 996 [Gene]
  • LOC129930772:ATAC-STARR-seq lymphoblastoid silent region 997 [Gene]
  • LOC129930778:ATAC-STARR-seq lymphoblastoid silent region 998 [Gene]
  • LOC129930780:ATAC-STARR-seq lymphoblastoid silent region 999 [Gene]
  • BCL10-AS1:BCL10 antisense RNA 1 [Gene - HGNC]
  • BCL10:BCL10 immune signaling adaptor [Gene - OMIM - HGNC]
  • LOC126805742:BRD4-independent group 4 enhancer GRCh37_chr1:60505410-60506609 [Gene]
  • LOC126805745:BRD4-independent group 4 enhancer GRCh37_chr1:62071813-62073012 [Gene]
  • LOC126805748:BRD4-independent group 4 enhancer GRCh37_chr1:64868467-64869666 [Gene]
  • LOC126805749:BRD4-independent group 4 enhancer GRCh37_chr1:65312286-65313485 [Gene]
  • LOC126805752:BRD4-independent group 4 enhancer GRCh37_chr1:68613408-68614607 [Gene]
  • LOC126805756:BRD4-independent group 4 enhancer GRCh37_chr1:70818812-70820011 [Gene]
  • LOC126805759:BRD4-independent group 4 enhancer GRCh37_chr1:73648977-73650176 [Gene]
  • LOC126805764:BRD4-independent group 4 enhancer GRCh37_chr1:77962170-77963369 [Gene]
  • LOC126805765:BRD4-independent group 4 enhancer GRCh37_chr1:78383688-78384887 [Gene]
  • LOC126805768:BRD4-independent group 4 enhancer GRCh37_chr1:83240976-83242175 [Gene]
  • LOC112590812:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:59348667-59349866 [Gene]
  • LOC126805740:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:59764225-59765424 [Gene]
  • LOC126805743:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:60807761-60808960 [Gene]
  • LOC126805754:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:68924860-68926059 [Gene]
  • LOC126805760:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:75597021-75598220 [Gene]
  • LOC126805761:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:75841149-75842348 [Gene]
  • LOC126805762:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:76929871-76931070 [Gene]
  • LOC126805767:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:79157716-79158915 [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]
  • LOC115801429:CRISPRi-validated cis-regulatory element chr1.6815 [Gene]
  • LOC115801430:CRISPRi-validated cis-regulatory element chr1.6877 [Gene]
  • DEPDC1:DEP domain containing 1 [Gene - OMIM - HGNC]
  • DEPDC1-AS1:DEPDC1 antisense RNA 1 [Gene - HGNC]
  • DIRAS3:DIRAS family GTPase 3 [Gene - OMIM - HGNC]
  • DOCK7-DT:DOCK7 divergent transcript [Gene - HGNC]
  • DNAJB4:DnaJ heat shock protein family (Hsp40) member B4 [Gene - OMIM - HGNC]
  • DNAJC6:DnaJ heat shock protein family (Hsp40) member C6 [Gene - OMIM - HGNC]
  • EFCAB7:EF-hand calcium binding domain 7 [Gene - OMIM - HGNC]
  • ERICH3-AS1:ERICH3 antisense RNA 1 [Gene - HGNC]
  • FGGY:FGGY carbohydrate kinase domain containing [Gene - OMIM - HGNC]
  • FOXD3-AS1:FOXD3 antisense RNA 1 [Gene - HGNC]
  • FPGT-TNNI3K:FPGT-TNNI3K readthrough [Gene - HGNC]
  • GNG12:G protein subunit gamma 12 [Gene - OMIM - HGNC]
  • GNG5:G protein subunit gamma 5 [Gene - OMIM - HGNC]
  • GIPC2:GIPC PDZ domain containing family member 2 [Gene - OMIM - HGNC]
  • GNG12-AS1:GNG12, DIRAS3 and WLS antisense RNA 1 [Gene - OMIM - HGNC]
  • JUN-DT:JUN divergent transcript [Gene - HGNC]
  • JAK1:Janus kinase 1 [Gene - OMIM - HGNC]
  • KANK4:KN motif and ankyrin repeat domains 4 [Gene - OMIM - HGNC]
  • LHX8-AS1:LHX8 antisense RNA 1 [Gene - HGNC]
  • LHX8:LIM homeobox 8 [Gene - OMIM - HGNC]
  • L1TD1:LINE1 type transposase domain containing 1 [Gene - HGNC]
  • LRRC7-AS1:LRRC7 antisense RNA 1 [Gene - HGNC]
  • LOC126805741:MED14-independent group 3 enhancer GRCh37_chr1:60380537-60381736 [Gene]
  • LOC126805746:MED14-independent group 3 enhancer GRCh37_chr1:62190259-62191458 [Gene]
  • LOC126805750:MED14-independent group 3 enhancer GRCh37_chr1:66866019-66867218 [Gene]
  • LOC126805755:MED14-independent group 3 enhancer GRCh37_chr1:69520590-69521789 [Gene]
  • LOC126805757:MED14-independent group 3 enhancer GRCh37_chr1:72466099-72467298 [Gene]
  • MIER1:MIER1 transcriptional regulator [Gene - OMIM - HGNC]
  • LOC129388535:MPRA-validated peak254 silencer [Gene]
  • LOC129388536:MPRA-validated peak255 silencer [Gene]
  • LOC129388537:MPRA-validated peak256 silencer [Gene]
  • LOC129388538:MPRA-validated peak258 silencer [Gene]
  • LOC129388539:MPRA-validated peak260 silencer [Gene]
  • LOC129388540:MPRA-validated peak261 silencer [Gene]
  • LOC129388541:MPRA-validated peak264 silencer [Gene]
  • LOC129388542:MPRA-validated peak269 silencer [Gene]
  • LOC129388543:MPRA-validated peak272 silencer [Gene]
  • LOC129388544:MPRA-validated peak274 silencer [Gene]
  • LOC129388545:MPRA-validated peak275 silencer [Gene]
  • LOC129388546:MPRA-validated peak278 silencer [Gene]
  • LOC129388547:MPRA-validated peak281 silencer [Gene]
  • LOC129388548:MPRA-validated peak283 silencer [Gene]
  • LOC129388549:MPRA-validated peak284 silencer [Gene]
  • LOC129388550:MPRA-validated peak287 silencer [Gene]
  • LOC129388551:MPRA-validated peak288 silencer [Gene]
  • LOC129388552:MPRA-validated peak289 silencer [Gene]
  • LOC129388553:MPRA-validated peak293 silencer [Gene]
  • LOC129388554:MPRA-validated peak295 silencer [Gene]
  • LOC129388555:MPRA-validated peak297 silencer [Gene]
  • LOC129388556:MPRA-validated peak299 silencer [Gene]
  • LOC122056898:NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62416006-62416808 [Gene]
  • NEGR1-IT1:NEGR1 intronic transcript 1 [Gene - HGNC]
  • NEXN-AS1:NEXN antisense RNA 1 [Gene - OMIM - HGNC]
  • LOC111501769:NFE2L2 motif-containing MPRA enhancer 286 [Gene]
  • NFIA-AS1:NFIA antisense RNA 1 [Gene - HGNC]
  • NFIA-AS2:NFIA antisense RNA 2 [Gene - HGNC]
  • LOC132090664:Neanderthal introgressed variant-containing enhancer experimental_8792 [Gene]
  • LOC132088736:Neanderthal introgressed variant-containing enhancer experimental_9048 [Gene]
  • LOC132088737:Neanderthal introgressed variant-containing enhancer experimental_9174 [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]
  • LOC126805744:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:61946773-61947972 [Gene]
  • LOC126805747:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:64728314-64729513 [Gene]
  • LOC126805751:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:68151855-68153054 [Gene]
  • LOC126805753:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:68849743-68850942 [Gene]
  • LOC126805758:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:72750040-72751239 [Gene]
  • LOC126805763:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:77463853-77465052 [Gene]
  • LOC126805766:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:78805687-78806886 [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]
  • PATJ:PATJ crumbs cell polarity complex component [Gene - OMIM - HGNC]
  • PATJ-DT:PATJ divergent transcript [Gene - HGNC]
  • PDE4B-AS1:PDE4B antisense RNA 1 [Gene - HGNC]
  • ROR1-AS1:ROR1 antisense RNA 1 [Gene - HGNC]
  • RABGGTB:Rab geranylgeranyltransferase subunit beta [Gene - OMIM - HGNC]
  • SERBP1:SERPINE1 mRNA binding protein 1 [Gene - OMIM - HGNC]
  • SGIP1:SH3GL interacting endocytic adaptor 1 [Gene - OMIM - HGNC]
  • SSX2IP:SSX family member 2 interacting protein [Gene - OMIM - HGNC]
  • ST6GALNAC3:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 [Gene - OMIM - HGNC]
  • ST6GALNAC5:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 [Gene - OMIM - HGNC]
  • LOC120893140:Sharpr-MPRA regulatory region 10312 [Gene]
  • LOC122094846:Sharpr-MPRA regulatory region 10397 [Gene]
  • LOC122094839:Sharpr-MPRA regulatory region 10636 [Gene]
  • LOC122056892:Sharpr-MPRA regulatory region 10857 [Gene]
  • LOC121725028:Sharpr-MPRA regulatory region 11272 [Gene]
  • LOC112590818:Sharpr-MPRA regulatory region 12103 [Gene]
  • LOC122056897:Sharpr-MPRA regulatory region 1245 [Gene]
  • LOC122094847:Sharpr-MPRA regulatory region 12613 [Gene]
  • LOC122094852:Sharpr-MPRA regulatory region 12904 [Gene]
  • LOC121725029:Sharpr-MPRA regulatory region 12925 [Gene]
  • LOC122094843:Sharpr-MPRA regulatory region 13002 [Gene]
  • LOC122056893:Sharpr-MPRA regulatory region 13133 [Gene]
  • LOC121725036:Sharpr-MPRA regulatory region 13288 [Gene]
  • LOC122094841:Sharpr-MPRA regulatory region 13784 [Gene]
  • LOC121725027:Sharpr-MPRA regulatory region 14006 [Gene]
  • LOC120893143:Sharpr-MPRA regulatory region 14351 [Gene]
  • LOC122094848:Sharpr-MPRA regulatory region 15496 [Gene]
  • LOC112590817:Sharpr-MPRA regulatory region 2453 [Gene]
  • LOC122056895:Sharpr-MPRA regulatory region 2485 [Gene]
  • LOC122094842:Sharpr-MPRA regulatory region 321 [Gene]
  • LOC121725033:Sharpr-MPRA regulatory region 3313 [Gene]
  • LOC122056891:Sharpr-MPRA regulatory region 331 [Gene]
  • LOC121725035:Sharpr-MPRA regulatory region 3408 [Gene]
  • LOC112590819:Sharpr-MPRA regulatory region 3760 [Gene]
  • LOC121725037:Sharpr-MPRA regulatory region 3870 [Gene]
  • LOC120893142:Sharpr-MPRA regulatory region 3902 [Gene]
  • LOC122094840:Sharpr-MPRA regulatory region 3967 [Gene]
  • LOC122056896:Sharpr-MPRA regulatory region 4387 [Gene]
  • LOC120893144:Sharpr-MPRA regulatory region 4548 [Gene]
  • LOC121725026:Sharpr-MPRA regulatory region 4934 [Gene]
  • LOC122094856:Sharpr-MPRA regulatory region 5400 [Gene]
  • LOC122094851:Sharpr-MPRA regulatory region 5584 [Gene]
  • LOC122094844:Sharpr-MPRA regulatory region 5730 [Gene]
  • LOC122056894:Sharpr-MPRA regulatory region 5981 [Gene]
  • LOC122094850:Sharpr-MPRA regulatory region 6160 [Gene]
  • LOC122094845:Sharpr-MPRA regulatory region 6178 [Gene]
  • LOC112590814:Sharpr-MPRA regulatory region 6224 [Gene]
  • LOC122094849:Sharpr-MPRA regulatory region 6234 [Gene]
  • LOC112590816:Sharpr-MPRA regulatory region 6411 [Gene]
  • LOC122094854:Sharpr-MPRA regulatory region 6537 [Gene]
  • LOC122094855:Sharpr-MPRA regulatory region 7267 [Gene]
  • LOC121725034:Sharpr-MPRA regulatory region 8606 [Gene]
  • LOC121725032:Sharpr-MPRA regulatory region 8716 [Gene]
  • LOC122094857:Sharpr-MPRA regulatory region 8792 [Gene]
  • LOC112590815:Sharpr-MPRA regulatory region 8799 [Gene]
  • LOC112590820:Sharpr-MPRA regulatory region 8849 [Gene]
  • LOC121725030:Sharpr-MPRA regulatory region 9183 [Gene]
  • LOC120893141:Sharpr-MPRA regulatory region 9273 [Gene]
  • LOC122094853:Sharpr-MPRA regulatory region 9784 [Gene]
  • TM2D1:TM2 domain containing 1 [Gene - OMIM - HGNC]
  • TNNI3K:TNNI3 interacting kinase [Gene - OMIM - HGNC]
  • TTLL7-IT1:TTLL7 intronic transcript 1 [Gene - HGNC]
  • LOC110121050:VISTA enhancer hs1309 [Gene]
  • LOC110121108:VISTA enhancer hs1450 [Gene]
  • LOC110121124:VISTA enhancer hs1484 [Gene]
  • LOC110121125:VISTA enhancer hs1485 [Gene]
  • LOC110120599:VISTA enhancer hs168 [Gene]
  • LOC110120600:VISTA enhancer hs169 [Gene]
  • LOC110121238:VISTA enhancer hs1989 [Gene]
  • LOC110120659:VISTA enhancer hs311 [Gene]
  • LOC110120683:VISTA enhancer hs442 [Gene]
  • LOC110120763:VISTA enhancer hs764 [Gene]
  • WLS:Wnt ligand secretion mediator [Gene - OMIM - HGNC]
  • ZRANB2-AS1:ZRANB2 antisense RNA 1 [Gene - HGNC]
  • ZRANB2-DT:ZRANB2 divergent transcript [Gene - HGNC]
  • ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]
  • AK4:adenylate kinase 4 [Gene - OMIM - HGNC]
  • AK5:adenylate kinase 5 [Gene - OMIM - HGNC]
  • ADGRL2:adhesion G protein-coupled receptor L2 [Gene - OMIM - HGNC]
  • ADGRL4:adhesion G protein-coupled receptor L4 [Gene - OMIM - HGNC]
  • ANGPTL3:angiopoietin like 3 [Gene - OMIM - HGNC]
  • ASB17:ankyrin repeat and SOCS box containing 17 [Gene - OMIM - HGNC]
  • ANKRD13C:ankyrin repeat domain 13C [Gene - OMIM - HGNC]
  • ATG4C:autophagy related 4C cysteine peptidase [Gene - OMIM - HGNC]
  • CACHD1:cache domain containing 1 [Gene - OMIM - HGNC]
  • CCN1:cellular communication network factor 1 [Gene - OMIM - HGNC]
  • CTBS:chitobiase [Gene - OMIM - HGNC]
  • C1orf141:chromosome 1 open reading frame 141 [Gene - HGNC]
  • C1orf52:chromosome 1 open reading frame 52 [Gene - HGNC]
  • C1orf87:chromosome 1 open reading frame 87 [Gene - OMIM - HGNC]
  • COL24A1:collagen type XXIV alpha 1 chain [Gene - OMIM - HGNC]
  • CRYZ:crystallin zeta [Gene - OMIM - HGNC]
  • CTH:cystathionine gamma-lyase [Gene - OMIM - HGNC]
  • CYP2J2:cytochrome P450 family 2 subfamily J member 2 [Gene - OMIM - HGNC]
  • DOCK7:dedicator of cytokinesis 7 [Gene - OMIM - HGNC]
  • DLEU2L:deleted in lymphocytic leukemia 2 like [Gene - HGNC]
  • DNASE2B:deoxyribonuclease 2 beta [Gene - OMIM - HGNC]
  • DDAH1:dimethylarginine dimethylaminohydrolase 1 [Gene - OMIM - HGNC]
  • DNAI3:dynein axonemal intermediate chain 3 [Gene - OMIM - HGNC]
  • DNAI4:dynein axonemal intermediate chain 4 [Gene - OMIM - HGNC]
  • DYNLT5:dynein light chain Tctex-type family member 5 [Gene - OMIM - HGNC]
  • FUBP1:far upstream element binding protein 1 [Gene - OMIM - HGNC]
  • FOXD3:forkhead box D3 [Gene - OMIM - HGNC]
  • FPGT:fucose-1-phosphate guanylyltransferase [Gene - OMIM - HGNC]
  • ERICH3:glutamate rich 3 [Gene - HGNC]
  • GADD45A:growth arrest and DNA damage inducible alpha [Gene - OMIM - HGNC]
  • HOOK1:hook microtubule tethering protein 1 [Gene - OMIM - HGNC]
  • INSL5:insulin like 5 [Gene - OMIM - HGNC]
  • ITGB3BP:integrin subunit beta 3 binding protein [Gene - OMIM - HGNC]
  • IFI44L:interferon induced protein 44 like [Gene - OMIM - HGNC]
  • IFI44:interferon induced protein 44 [Gene - OMIM - HGNC]
  • IL12RB2:interleukin 12 receptor subunit beta 2 [Gene - OMIM - HGNC]
  • IL23R:interleukin 23 receptor [Gene - OMIM - HGNC]
  • LEPROT:leptin receptor overlapping transcript [Gene - OMIM - HGNC]
  • LEPR:leptin receptor [Gene - OMIM - HGNC]
  • LRRC40:leucine rich repeat containing 40 [Gene - HGNC]
  • LRRC53:leucine rich repeat containing 53 [Gene - HGNC]
  • LRRC7:leucine rich repeat containing 7 [Gene - OMIM - HGNC]
  • LRRIQ3:leucine rich repeats and IQ motif containing 3 [Gene - OMIM - HGNC]
  • LINC01358:long intergenic non-protein coding RNA 1358 [Gene - HGNC]
  • LINC01359:long intergenic non-protein coding RNA 1359 [Gene - HGNC]
  • LINC01360:long intergenic non-protein coding RNA 1360 [Gene - HGNC]
  • LINC01361:long intergenic non-protein coding RNA 1361 [Gene - HGNC]
  • LINC01362:long intergenic non-protein coding RNA 1362 [Gene - HGNC]
  • LINC01461:long intergenic non-protein coding RNA 1461 [Gene - HGNC]
  • LINC01555:long intergenic non-protein coding RNA 1555 [Gene - HGNC]
  • LINC01707:long intergenic non-protein coding RNA 1707 [Gene - HGNC]
  • LINC01712:long intergenic non-protein coding RNA 1712 [Gene - HGNC]
  • LINC01725:long intergenic non-protein coding RNA 1725 [Gene - HGNC]
  • LINC01739:long intergenic non-protein coding RNA 1739 [Gene - HGNC]
  • LINC01748:long intergenic non-protein coding RNA 1748 [Gene - HGNC]
  • LINC01758:long intergenic non-protein coding RNA 1758 [Gene - HGNC]
  • LINC01781:long intergenic non-protein coding RNA 1781 [Gene - HGNC]
  • LINC01788:long intergenic non-protein coding RNA 1788 [Gene - HGNC]
  • LINC02238:long intergenic non-protein coding RNA 2238 [Gene - HGNC]
  • LINC02567:long intergenic non-protein coding RNA 2567 [Gene - HGNC]
  • LINC02777:long intergenic non-protein coding RNA 2777 [Gene - HGNC]
  • LINC02791:long intergenic non-protein coding RNA 2791 [Gene - HGNC]
  • LINC02796:long intergenic non-protein coding RNA 2796 [Gene - HGNC]
  • LINC03102:long intergenic non-protein coding RNA 3102 [Gene - HGNC]
  • LINC00466:long intergenic non-protein coding RNA 466 [Gene - HGNC]
  • LPAR3:lysophosphatidic acid receptor 3 [Gene - OMIM - HGNC]
  • LOC128772198:melanoma risk locus-associated MPRA allelic enhancer 1:63727542 [Gene]
  • MIR101-1:microRNA 101-1 [Gene - OMIM - HGNC]
  • MIR12132:microRNA 12132 [Gene - HGNC]
  • MIR1262:microRNA 1262 [Gene - HGNC]
  • MIR186:microRNA 186 [Gene - HGNC]
  • MIR3116-1:microRNA 3116-1 [Gene - HGNC]
  • MIR3116-2:microRNA 3116-2 [Gene - HGNC]
  • MIR3117:microRNA 3117 [Gene - HGNC]
  • MIR3671:microRNA 3671 [Gene - HGNC]
  • MIR4423:microRNA 4423 [Gene - HGNC]
  • MIR4711:microRNA 4711 [Gene - HGNC]
  • MIR4794:microRNA 4794 [Gene - HGNC]
  • MIR6068:microRNA 6068 [Gene - HGNC]
  • MIR7156:microRNA 7156 [Gene - HGNC]
  • MIGA1:mitoguardin 1 [Gene - OMIM - HGNC]
  • MCOLN2:mucolipin TRP cation channel 2 [Gene - OMIM - HGNC]
  • MCOLN3:mucolipin TRP cation channel 3 [Gene - OMIM - HGNC]
  • MSH4:mutS homolog 4 [Gene - OMIM - HGNC]
  • NEGR1:neuronal growth regulator 1 [Gene - OMIM - HGNC]
  • NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
  • NFIA:nuclear factor I A [Gene - OMIM - HGNC]
  • PIGK:phosphatidylinositol glycan anchor biosynthesis class K [Gene - OMIM - HGNC]
  • PDE4B:phosphodiesterase 4B [Gene - OMIM - HGNC]
  • PGM1:phosphoglucomutase 1 [Gene - OMIM - HGNC]
  • PTGER3:prostaglandin E receptor 3 [Gene - OMIM - HGNC]
  • PTGFR:prostaglandin F receptor [Gene - OMIM - HGNC]
  • PRKACB:protein kinase cAMP-activated catalytic subunit beta [Gene - OMIM - HGNC]
  • ROR1:receptor tyrosine kinase like orphan receptor 1 [Gene - OMIM - HGNC]
  • RPE65:retinoid isomerohydrolase RPE65 [Gene - OMIM - HGNC]
  • RAVER2:ribonucleoprotein, PTB binding 2 [Gene - OMIM - HGNC]
  • RPF1:ribosome production factor 1 homolog [Gene - HGNC]
  • SRSF11:serine and arginine rich splicing factor 11 [Gene - OMIM - HGNC]
  • SNORD45A:small nucleolar RNA, C/D box 45A [Gene - HGNC]
  • SNORD45B:small nucleolar RNA, C/D box 45B [Gene - HGNC]
  • SNORD45C:small nucleolar RNA, C/D box 45C [Gene - HGNC]
  • SLC35D1:solute carrier family 35 member D1 [Gene - OMIM - HGNC]
  • SLC44A5:solute carrier family 44 member 5 [Gene - OMIM - HGNC]
  • SPATA1:spermatogenesis associated 1 [Gene - HGNC]
  • SAMD13:sterile alpha motif domain containing 13 [Gene - HGNC]
  • SYDE2:synapse defective Rho GTPase homolog 2 [Gene - HGNC]
  • TYW3:tRNA-yW synthesizing protein 3 homolog [Gene - OMIM - HGNC]
  • LOC107983962:translation initiation factor IF-2-like [Gene]
  • TTLL7:tubulin tyrosine ligase like 7 [Gene - OMIM - HGNC]
  • UBE2U:ubiquitin conjugating enzyme E2 U [Gene - HGNC]
  • USP1:ubiquitin specific peptidase 1 [Gene - OMIM - HGNC]
  • USP33:ubiquitin specific peptidase 33 [Gene - OMIM - HGNC]
  • LOC101926944:uncharacterized LOC101926944 [Gene]
  • LOC101926964:uncharacterized LOC101926964 [Gene]
  • LOC101927342:uncharacterized LOC101927342 [Gene]
  • LOC101927434:uncharacterized LOC101927434 [Gene]
  • LOC101927560:uncharacterized LOC101927560 [Gene]
  • LOC105378798:uncharacterized LOC105378798 [Gene]
  • HSD52:uncharacterized LOC729467 [Gene]
  • MGC27382:uncharacterized MGC27382 [Gene]
  • ZNHIT6:zinc finger HIT-type containing 6 [Gene - OMIM - HGNC]
  • ZRANB2:zinc finger RANBP2-type containing 2 [Gene - OMIM - HGNC]
  • ZZZ3:zinc finger ZZ-type containing 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p32.1-22.3
Genomic location:
Preferred name:
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1
HGVS:
  • NC_000001.11:g.(?_58819605)_(86098611_?)del
  • NC_000001.10:g.(?_59285277)_(86564294_?)del
  • NC_000001.9:g.(?_59057865)_(86336882_?)del
Links:
dbVar: nssv582846; dbVar: nsv534275
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000177052ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		not providedclinical 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, SCV000177052.4

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

Last Updated: Oct 14, 2023