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GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000051822.6

Allele description [Variation Report for GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3]

GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3

Genes:
  • DHCR24:24-dehydrocholesterol reductase [Gene - OMIM - HGNC]
  • ALG6:ALG6 alpha-1,3-glucosyltransferase [Gene - OMIM - HGNC]
  • ANKRD13C-DT:ANKRD13C divergent transcript [Gene - OMIM - HGNC]
  • LOC129930552:ATAC-STARR-seq lymphoblastoid active region 1034 [Gene]
  • LOC129930553:ATAC-STARR-seq lymphoblastoid active region 1035 [Gene]
  • LOC129930555:ATAC-STARR-seq lymphoblastoid active region 1036 [Gene]
  • LOC129930559:ATAC-STARR-seq lymphoblastoid active region 1040 [Gene]
  • LOC129930560:ATAC-STARR-seq lymphoblastoid active region 1041 [Gene]
  • LOC129930563:ATAC-STARR-seq lymphoblastoid active region 1044 [Gene]
  • LOC129930566:ATAC-STARR-seq lymphoblastoid active region 1045 [Gene]
  • LOC129930570:ATAC-STARR-seq lymphoblastoid active region 1046 [Gene]
  • LOC129930571:ATAC-STARR-seq lymphoblastoid active region 1047 [Gene]
  • LOC129930573:ATAC-STARR-seq lymphoblastoid active region 1050 [Gene]
  • LOC129930576:ATAC-STARR-seq lymphoblastoid active region 1053 [Gene]
  • LOC129930577:ATAC-STARR-seq lymphoblastoid active region 1054 [Gene]
  • LOC129930578:ATAC-STARR-seq lymphoblastoid active region 1055 [Gene]
  • LOC129930579:ATAC-STARR-seq lymphoblastoid active region 1056 [Gene]
  • LOC129930580:ATAC-STARR-seq lymphoblastoid active region 1057 [Gene]
  • LOC129930581:ATAC-STARR-seq lymphoblastoid active region 1058 [Gene]
  • LOC129930582:ATAC-STARR-seq lymphoblastoid active region 1061 [Gene]
  • LOC129930583:ATAC-STARR-seq lymphoblastoid active region 1062 [Gene]
  • LOC129930584:ATAC-STARR-seq lymphoblastoid active region 1063 [Gene]
  • LOC129930586:ATAC-STARR-seq lymphoblastoid active region 1064 [Gene]
  • LOC129930589:ATAC-STARR-seq lymphoblastoid active region 1065 [Gene]
  • LOC129930592:ATAC-STARR-seq lymphoblastoid active region 1067 [Gene]
  • LOC129930593:ATAC-STARR-seq lymphoblastoid active region 1068 [Gene]
  • LOC129930595:ATAC-STARR-seq lymphoblastoid active region 1069 [Gene]
  • LOC129930596:ATAC-STARR-seq lymphoblastoid active region 1070 [Gene]
  • LOC129930597:ATAC-STARR-seq lymphoblastoid active region 1071 [Gene]
  • LOC129930601:ATAC-STARR-seq lymphoblastoid active region 1072 [Gene]
  • LOC129930602:ATAC-STARR-seq lymphoblastoid active region 1073 [Gene]
  • LOC129930603:ATAC-STARR-seq lymphoblastoid active region 1074 [Gene]
  • LOC129930604:ATAC-STARR-seq lymphoblastoid active region 1075 [Gene]
  • LOC129930605:ATAC-STARR-seq lymphoblastoid active region 1076 [Gene]
  • LOC129930606:ATAC-STARR-seq lymphoblastoid active region 1077 [Gene]
  • LOC129930607:ATAC-STARR-seq lymphoblastoid active region 1078 [Gene]
  • LOC129930608:ATAC-STARR-seq lymphoblastoid active region 1079 [Gene]
  • LOC129930609:ATAC-STARR-seq lymphoblastoid active region 1080 [Gene]
  • LOC129930610:ATAC-STARR-seq lymphoblastoid active region 1081 [Gene]
  • LOC129930611:ATAC-STARR-seq lymphoblastoid active region 1082 [Gene]
  • LOC129930612:ATAC-STARR-seq lymphoblastoid active region 1083 [Gene]
  • LOC129930613:ATAC-STARR-seq lymphoblastoid active region 1084 [Gene]
  • LOC129930614:ATAC-STARR-seq lymphoblastoid active region 1085 [Gene]
  • LOC129930615:ATAC-STARR-seq lymphoblastoid active region 1086 [Gene]
  • LOC129930616:ATAC-STARR-seq lymphoblastoid active region 1087 [Gene]
  • LOC129930617:ATAC-STARR-seq lymphoblastoid active region 1088 [Gene]
  • LOC129930618:ATAC-STARR-seq lymphoblastoid active region 1089 [Gene]
  • LOC129930619:ATAC-STARR-seq lymphoblastoid active region 1090 [Gene]
  • 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]
  • LOC129930781:ATAC-STARR-seq lymphoblastoid silent region 1000 [Gene]
  • LOC129930549:ATAC-STARR-seq lymphoblastoid silent region 894 [Gene]
  • LOC129930550:ATAC-STARR-seq lymphoblastoid silent region 895 [Gene]
  • LOC129930551:ATAC-STARR-seq lymphoblastoid silent region 896 [Gene]
  • LOC129930554:ATAC-STARR-seq lymphoblastoid silent region 897 [Gene]
  • LOC129930556:ATAC-STARR-seq lymphoblastoid silent region 898 [Gene]
  • LOC129930557:ATAC-STARR-seq lymphoblastoid silent region 899 [Gene]
  • LOC129930558:ATAC-STARR-seq lymphoblastoid silent region 901 [Gene]
  • LOC129930561:ATAC-STARR-seq lymphoblastoid silent region 902 [Gene]
  • LOC129930562:ATAC-STARR-seq lymphoblastoid silent region 904 [Gene]
  • LOC129930564:ATAC-STARR-seq lymphoblastoid silent region 905 [Gene]
  • LOC129930565:ATAC-STARR-seq lymphoblastoid silent region 906 [Gene]
  • LOC129930567:ATAC-STARR-seq lymphoblastoid silent region 907 [Gene]
  • LOC129930568:ATAC-STARR-seq lymphoblastoid silent region 908 [Gene]
  • LOC129930569:ATAC-STARR-seq lymphoblastoid silent region 909 [Gene]
  • LOC129930572:ATAC-STARR-seq lymphoblastoid silent region 912 [Gene]
  • LOC129930574:ATAC-STARR-seq lymphoblastoid silent region 913 [Gene]
  • LOC129930575:ATAC-STARR-seq lymphoblastoid silent region 915 [Gene]
  • LOC129930585:ATAC-STARR-seq lymphoblastoid silent region 917 [Gene]
  • LOC129930587:ATAC-STARR-seq lymphoblastoid silent region 918 [Gene]
  • LOC129930588:ATAC-STARR-seq lymphoblastoid silent region 920 [Gene]
  • LOC129930590:ATAC-STARR-seq lymphoblastoid silent region 923 [Gene]
  • LOC129930591:ATAC-STARR-seq lymphoblastoid silent region 924 [Gene]
  • LOC129930594:ATAC-STARR-seq lymphoblastoid silent region 927 [Gene]
  • LOC129930598:ATAC-STARR-seq lymphoblastoid silent region 928 [Gene]
  • LOC129930599:ATAC-STARR-seq lymphoblastoid silent region 929 [Gene]
  • LOC129930600:ATAC-STARR-seq lymphoblastoid silent region 930 [Gene]
  • LOC129930620:ATAC-STARR-seq lymphoblastoid silent region 934 [Gene]
  • LOC129930621:ATAC-STARR-seq lymphoblastoid silent region 936 [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]
  • 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]
  • 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]
  • LOC115801429:CRISPRi-validated cis-regulatory element chr1.6815 [Gene]
  • LOC115801430:CRISPRi-validated cis-regulatory element chr1.6877 [Gene]
  • CDCP2:CUB domain containing protein 2 [Gene - OMIM - HGNC]
  • CZIB:CXXC motif containing zinc binding protein [Gene - HGNC]
  • CZIB-DT:CZIB divergent transcript [Gene - HGNC]
  • DAB1:DAB adaptor protein 1 [Gene - OMIM - HGNC]
  • DAB1-AS1:DAB1 antisense RNA 1 [Gene - HGNC]
  • DEPDC1:DEP domain containing 1 [Gene - OMIM - HGNC]
  • DEPDC1-AS1:DEPDC1 antisense RNA 1 [Gene - HGNC]
  • DIRAS3:DIRAS family GTPase 3 [Gene - OMIM - HGNC]
  • DMRTB1:DMRT like family B with proline rich C-terminal 1 [Gene - OMIM - HGNC]
  • DOCK7-DT:DOCK7 divergent transcript [Gene - 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]
  • FYB2:FYN binding protein 2 [Gene - OMIM - HGNC]
  • GNG12:G protein subunit gamma 12 [Gene - OMIM - HGNC]
  • GLIS1:GLIS family zinc finger 1 [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]
  • JUN:Jun proto-oncogene, AP-1 transcription factor subunit [Gene - OMIM - HGNC]
  • KANK4:KN motif and ankyrin repeat domains 4 [Gene - OMIM - HGNC]
  • LRP8:LDL receptor related protein 8 [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]
  • LRP8-DT:LRP8 divergent transcript [Gene - HGNC]
  • LRRC7-AS1:LRRC7 antisense RNA 1 [Gene - HGNC]
  • MAGOH-DT:MAGOH divergent transcript [Gene - HGNC]
  • LOC112590807:MED14-independent group 3 enhancer GRCh37_chr1:54422389-54423588 [Gene]
  • LOC126805736:MED14-independent group 3 enhancer GRCh37_chr1:56598956-56600155 [Gene]
  • LOC126805737:MED14-independent group 3 enhancer GRCh37_chr1:59049763-59050962 [Gene]
  • LOC126805739:MED14-independent group 3 enhancer GRCh37_chr1:59220674-59221873 [Gene]
  • 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]
  • MIR4422HG:MIR4422 host gene [Gene - HGNC]
  • LOC129388524:MPRA-validated peak230 silencer [Gene]
  • LOC129388525:MPRA-validated peak232 silencer [Gene]
  • LOC129388526:MPRA-validated peak233 silencer [Gene]
  • LOC129388527:MPRA-validated peak234 silencer [Gene]
  • LOC129388528:MPRA-validated peak235 silencer [Gene]
  • LOC129388529:MPRA-validated peak239 silencer [Gene]
  • LOC129388530:MPRA-validated peak241 silencer [Gene]
  • LOC129388531:MPRA-validated peak242 silencer [Gene]
  • LOC129388532:MPRA-validated peak243 silencer [Gene]
  • LOC129388533:MPRA-validated peak246 silencer [Gene]
  • LOC129388534:MPRA-validated peak251 silencer [Gene]
  • 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]
  • MROH7-TTC4:MROH7-TTC4 readthrough (NMD candidate) [Gene - HGNC]
  • MYSM1:Myb like, SWIRM and MPN domains 1 [Gene - OMIM - HGNC]
  • LOC122056898:NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62416006-62416808 [Gene]
  • LOC112590808:NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:54518370-54518924 and GRCh37_chr1:54518925-54519480 [Gene]
  • NDC1:NDC1 transmembrane nucleoporin [Gene - OMIM - HGNC]
  • NEGR1-IT1:NEGR1 intronic transcript 1 [Gene - 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]
  • LOC132088728:Neanderthal introgressed variant-containing enhancer experimental_8495 [Gene]
  • LOC132088729:Neanderthal introgressed variant-containing enhancer experimental_8522 [Gene]
  • LOC132088730:Neanderthal introgressed variant-containing enhancer experimental_8540 [Gene]
  • LOC132088731:Neanderthal introgressed variant-containing enhancer experimental_8557 [Gene]
  • LOC132088732:Neanderthal introgressed variant-containing enhancer experimental_8565 [Gene]
  • LOC132088733:Neanderthal introgressed variant-containing enhancer experimental_8598 [Gene]
  • LOC132088734:Neanderthal introgressed variant-containing enhancer experimental_8694 [Gene]
  • LOC132088735:Neanderthal introgressed variant-containing enhancer experimental_8756 [Gene]
  • LOC132090664:Neanderthal introgressed variant-containing enhancer experimental_8792 [Gene]
  • OMA1:OMA1 zinc metallopeptidase [Gene - OMIM - HGNC]
  • LOC126805734:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:55894365-55895564 [Gene]
  • LOC126805735:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:56545398-56546597 [Gene]
  • LOC126805738:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:59192522-59193721 [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]
  • 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]
  • SSBP3-AS1:SSBP3 antisense RNA 1 [Gene - HGNC]
  • ST6GALNAC3:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 [Gene - OMIM - HGNC]
  • LOC120893140:Sharpr-MPRA regulatory region 10312 [Gene]
  • LOC122094846:Sharpr-MPRA regulatory region 10397 [Gene]
  • LOC122056881:Sharpr-MPRA regulatory region 1049 [Gene]
  • LOC122094839:Sharpr-MPRA regulatory region 10636 [Gene]
  • LOC122056892:Sharpr-MPRA regulatory region 10857 [Gene]
  • LOC121725024:Sharpr-MPRA regulatory region 10932 [Gene]
  • LOC122056878:Sharpr-MPRA regulatory region 11088 [Gene]
  • LOC121725028:Sharpr-MPRA regulatory region 11272 [Gene]
  • LOC120893134:Sharpr-MPRA regulatory region 11599 [Gene]
  • LOC112590818:Sharpr-MPRA regulatory region 12103 [Gene]
  • LOC122056897:Sharpr-MPRA regulatory region 1245 [Gene]
  • LOC122094847:Sharpr-MPRA regulatory region 12613 [Gene]
  • LOC120893137:Sharpr-MPRA regulatory region 12692 [Gene]
  • LOC121725023:Sharpr-MPRA regulatory region 12771 [Gene]
  • LOC121725029:Sharpr-MPRA regulatory region 12925 [Gene]
  • LOC122094843:Sharpr-MPRA regulatory region 13002 [Gene]
  • LOC122056893:Sharpr-MPRA regulatory region 13133 [Gene]
  • LOC122056874:Sharpr-MPRA regulatory region 13275 [Gene]
  • LOC122056876:Sharpr-MPRA regulatory region 13647 [Gene]
  • LOC122056877:Sharpr-MPRA regulatory region 13758 [Gene]
  • LOC122094841:Sharpr-MPRA regulatory region 13784 [Gene]
  • LOC121725027:Sharpr-MPRA regulatory region 14006 [Gene]
  • LOC120893139:Sharpr-MPRA regulatory region 14294 [Gene]
  • LOC122094848:Sharpr-MPRA regulatory region 15496 [Gene]
  • LOC122056890:Sharpr-MPRA regulatory region 1716 [Gene]
  • LOC120893138:Sharpr-MPRA regulatory region 2243 [Gene]
  • LOC112590804:Sharpr-MPRA regulatory region 2435 [Gene]
  • LOC112590817:Sharpr-MPRA regulatory region 2453 [Gene]
  • LOC112590810:Sharpr-MPRA regulatory region 2463 [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]
  • LOC121725025:Sharpr-MPRA regulatory region 3519 [Gene]
  • LOC122056880:Sharpr-MPRA regulatory region 3629 [Gene]
  • LOC112590819:Sharpr-MPRA regulatory region 3760 [Gene]
  • LOC112590806:Sharpr-MPRA regulatory region 3939 [Gene]
  • LOC122094840:Sharpr-MPRA regulatory region 3967 [Gene]
  • LOC122056896:Sharpr-MPRA regulatory region 4387 [Gene]
  • LOC120893136:Sharpr-MPRA regulatory region 4453 [Gene]
  • LOC122056875:Sharpr-MPRA regulatory region 4702 [Gene]
  • LOC121725026:Sharpr-MPRA regulatory region 4934 [Gene]
  • LOC120893135:Sharpr-MPRA regulatory region 5491 [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]
  • LOC122056889:Sharpr-MPRA regulatory region 6655 [Gene]
  • LOC112590809:Sharpr-MPRA regulatory region 6809 [Gene]
  • LOC122056879:Sharpr-MPRA regulatory region 6831 [Gene]
  • LOC122056873:Sharpr-MPRA regulatory region 753 [Gene]
  • LOC122056888:Sharpr-MPRA regulatory region 8067 [Gene]
  • LOC122056887:Sharpr-MPRA regulatory region 8485 [Gene]
  • LOC121725032:Sharpr-MPRA regulatory region 8716 [Gene]
  • LOC112590815:Sharpr-MPRA regulatory region 8799 [Gene]
  • LOC112590820:Sharpr-MPRA regulatory region 8849 [Gene]
  • LOC122056883:Sharpr-MPRA regulatory region 9062 [Gene]
  • LOC121725030:Sharpr-MPRA regulatory region 9183 [Gene]
  • LOC122056884:Sharpr-MPRA regulatory region 9243 [Gene]
  • LOC120893141:Sharpr-MPRA regulatory region 9273 [Gene]
  • LOC122056882:Sharpr-MPRA regulatory region 9770 [Gene]
  • LOC122094853:Sharpr-MPRA regulatory region 9784 [Gene]
  • TM2D1:TM2 domain containing 1 [Gene - OMIM - HGNC]
  • TNNI3K:TNNI3 interacting kinase [Gene - OMIM - HGNC]
  • LOC110121050:VISTA enhancer hs1309 [Gene]
  • LOC110121108:VISTA enhancer hs1450 [Gene]
  • LOC110121124:VISTA enhancer hs1484 [Gene]
  • LOC110121125:VISTA enhancer hs1485 [Gene]
  • LOC110121126:VISTA enhancer hs1487 [Gene]
  • LOC110121161:VISTA enhancer hs1622 [Gene]
  • LOC110120599:VISTA enhancer hs168 [Gene]
  • LOC110120600:VISTA enhancer hs169 [Gene]
  • LOC114827846:VISTA enhancer hs2585 [Gene]
  • LOC110120659:VISTA enhancer hs311 [Gene]
  • LOC110120763:VISTA enhancer hs764 [Gene]
  • WLS:Wnt ligand secretion mediator [Gene - OMIM - HGNC]
  • YIPF1:Yip1 domain family member 1 [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]
  • ACOT11:acyl-CoA thioesterase 11 [Gene - OMIM - HGNC]
  • AK4:adenylate kinase 4 [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]
  • BSND:barttin CLCNK type accessory subunit beta [Gene - OMIM - HGNC]
  • CACHD1:cache domain containing 1 [Gene - OMIM - HGNC]
  • CPT2:carnitine palmitoyltransferase 2 [Gene - OMIM - HGNC]
  • C1orf141:chromosome 1 open reading frame 141 [Gene - HGNC]
  • C1orf87:chromosome 1 open reading frame 87 [Gene - OMIM - HGNC]
  • CIMAP2:ciliary microtubule associated protein 2 [Gene - OMIM - HGNC]
  • C8A:complement C8 alpha chain [Gene - OMIM - HGNC]
  • C8B:complement C8 beta 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]
  • CYB5RL:cytochrome b5 reductase like [Gene - HGNC]
  • COA7:cytochrome c oxidase assembly factor 7 [Gene - OMIM - HGNC]
  • DOCK7:dedicator of cytokinesis 7 [Gene - OMIM - HGNC]
  • DLEU2L:deleted in lymphocytic leukemia 2 like [Gene - HGNC]
  • DNAI4:dynein axonemal intermediate chain 4 [Gene - OMIM - HGNC]
  • DYNLT5:dynein light chain Tctex-type family member 5 [Gene - OMIM - HGNC]
  • ECHDC2:enoyl-CoA hydratase domain containing 2 [Gene - HGNC]
  • FAM151A:family with sequence similarity 151 member A [Gene - HGNC]
  • FOXD3:forkhead box D3 [Gene - OMIM - HGNC]
  • FPGT:fucose-1-phosphate guanylyltransferase [Gene - OMIM - HGNC]
  • ERICH3:glutamate rich 3 [Gene - HGNC]
  • GPX7:glutathione peroxidase 7 [Gene - OMIM - HGNC]
  • GADD45A:growth arrest and DNA damage inducible alpha [Gene - OMIM - HGNC]
  • LOC112590805:hESC enhancers GRCh37_chr1:53858569-53859069 and GRCh37_chr1:53859129-53859812 [Gene]
  • 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]
  • IL12RB2:interleukin 12 receptor subunit beta 2 [Gene - OMIM - HGNC]
  • IL23R:interleukin 23 receptor [Gene - OMIM - HGNC]
  • IFT25:intraflagellar transport 25 [Gene - HGNC]
  • DIO1:iodothyronine deiodinase 1 [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]
  • LRRC42:leucine rich repeat containing 42 [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]
  • LINC01707:long intergenic non-protein coding RNA 1707 [Gene - HGNC]
  • LINC01739:long intergenic non-protein coding RNA 1739 [Gene - HGNC]
  • LINC01748:long intergenic non-protein coding RNA 1748 [Gene - HGNC]
  • LINC01753:long intergenic non-protein coding RNA 1753 [Gene - HGNC]
  • LINC01755:long intergenic non-protein coding RNA 1755 [Gene - HGNC]
  • LINC01758:long intergenic non-protein coding RNA 1758 [Gene - HGNC]
  • LINC01767:long intergenic non-protein coding RNA 1767 [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]
  • LINC02784:long intergenic non-protein coding RNA 2784 [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]
  • LDLRAD1:low density lipoprotein receptor class A domain containing 1 [Gene - HGNC]
  • MROH7:maestro heat like repeat family member 7 [Gene - HGNC]
  • MAGOH:mago homolog, exon junction complex subunit [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]
  • MIR4422:microRNA 4422 [Gene - HGNC]
  • MIR4711:microRNA 4711 [Gene - HGNC]
  • MIR4781:microRNA 4781 [Gene - HGNC]
  • MIR4794:microRNA 4794 [Gene - HGNC]
  • MIR6068:microRNA 6068 [Gene - HGNC]
  • MRPL37:mitochondrial ribosomal protein L37 [Gene - OMIM - HGNC]
  • MSH4:mutS homolog 4 [Gene - OMIM - HGNC]
  • NEGR1:neuronal growth regulator 1 [Gene - OMIM - HGNC]
  • NFIA:nuclear factor I A [Gene - OMIM - HGNC]
  • PDE4B:phosphodiesterase 4B [Gene - OMIM - HGNC]
  • PGM1:phosphoglucomutase 1 [Gene - OMIM - HGNC]
  • PLPP3:phospholipid phosphatase 3 [Gene - OMIM - HGNC]
  • PODN:podocan [Gene - OMIM - HGNC]
  • PARS2:prolyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • PCSK9:proprotein convertase subtilisin/kexin type 9 [Gene - OMIM - HGNC]
  • PTGER3:prostaglandin E receptor 3 [Gene - OMIM - HGNC]
  • PRKAA2:protein kinase AMP-activated catalytic subunit alpha 2 [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]
  • SRSF11:serine and arginine rich splicing factor 11 [Gene - OMIM - HGNC]
  • SHISAL2A:shisa like 2A [Gene - OMIM - HGNC]
  • SSBP3:single stranded DNA binding protein 3 [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]
  • SLC1A7:solute carrier family 1 member 7 [Gene - OMIM - HGNC]
  • SLC35D1:solute carrier family 35 member D1 [Gene - OMIM - HGNC]
  • SLC44A5:solute carrier family 44 member 5 [Gene - OMIM - HGNC]
  • SCP2:sterol carrier protein 2 [Gene - OMIM - HGNC]
  • TRK-CTT7-1:tRNA-Lys (anticodon CTT) 7-1 [Gene - HGNC]
  • TYW3:tRNA-yW synthesizing protein 3 homolog [Gene - OMIM - HGNC]
  • TTC22:tetratricopeptide repeat domain 22 [Gene - HGNC]
  • TTC4:tetratricopeptide repeat domain 4 [Gene - OMIM - HGNC]
  • TCEANC2:transcription elongation factor A N-terminal and central domain containing 2 [Gene - HGNC]
  • LOC107983962:translation initiation factor IF-2-like [Gene]
  • TMEM59:transmembrane protein 59 [Gene - OMIM - HGNC]
  • TMEM61:transmembrane protein 61 [Gene - HGNC]
  • TACSTD2:tumor associated calcium signal transducer 2 [Gene - OMIM - HGNC]
  • UBE2U:ubiquitin conjugating enzyme E2 U [Gene - HGNC]
  • USP1:ubiquitin specific peptidase 1 [Gene - OMIM - HGNC]
  • USP24:ubiquitin specific peptidase 24 [Gene - OMIM - HGNC]
  • LOC100507634:uncharacterized LOC100507634 [Gene]
  • LOC101926944:uncharacterized LOC101926944 [Gene]
  • LOC101926964:uncharacterized LOC101926964 [Gene]
  • LOC101927342:uncharacterized LOC101927342 [Gene]
  • LOC101929935:uncharacterized LOC101929935 [Gene]
  • LOC105378798:uncharacterized LOC105378798 [Gene]
  • HSD52:uncharacterized LOC729467 [Gene]
  • ZRANB2:zinc finger RANBP2-type containing 2 [Gene - OMIM - HGNC]
  • ZYG11A:zyg-11 family member A, cell cycle regulator [Gene - OMIM - HGNC]
  • ZYG11B:zyg-11 family member B, cell cycle regulator [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1p32.3-31.1
Genomic location:
Preferred name:
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3
HGVS:
  • NC_000001.11:g.(?_52595352)_(76767765_?)dup
  • NC_000001.10:g.(?_53061024)_(77233450_?)dup
  • NC_000001.9:g.(?_52833612)_(77006038_?)dup
Links:
dbVar: nssv578523; dbVar: nsv530344
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
SCV000079170GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000079170.5

#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