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GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1 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:
RCV000053841.4

Allele description [Variation Report for GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1]

GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1

Genes:
  • ALG6:ALG6 alpha-1,3-glucosyltransferase [Gene - OMIM - HGNC]
  • ANKRD13C-DT:ANKRD13C divergent transcript [Gene - OMIM - HGNC]
  • 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]
  • 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]
  • 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]
  • 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]
  • LOC115801429:CRISPRi-validated cis-regulatory element chr1.6815 [Gene]
  • LOC115801430:CRISPRi-validated cis-regulatory element chr1.6877 [Gene]
  • 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]
  • 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]
  • FGGY:FGGY carbohydrate kinase domain containing [Gene - OMIM - HGNC]
  • FOXD3-AS1:FOXD3 antisense RNA 1 [Gene - HGNC]
  • GNG12:G protein subunit gamma 12 [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]
  • L1TD1:LINE1 type transposase domain containing 1 [Gene - HGNC]
  • LRRC7-AS1:LRRC7 antisense RNA 1 [Gene - HGNC]
  • 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]
  • MIER1:MIER1 transcriptional regulator [Gene - OMIM - HGNC]
  • 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]
  • MYSM1:Myb like, SWIRM and MPN domains 1 [Gene - OMIM - HGNC]
  • LOC122056898:NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62416006-62416808 [Gene]
  • 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]
  • OMA1:OMA1 zinc metallopeptidase [Gene - OMIM - HGNC]
  • 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]
  • 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]
  • SERBP1:SERPINE1 mRNA binding protein 1 [Gene - OMIM - HGNC]
  • SGIP1:SH3GL interacting endocytic adaptor 1 [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]
  • LOC121725029:Sharpr-MPRA regulatory region 12925 [Gene]
  • LOC122094843:Sharpr-MPRA regulatory region 13002 [Gene]
  • LOC122056893:Sharpr-MPRA regulatory region 13133 [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]
  • LOC112590817:Sharpr-MPRA regulatory region 2453 [Gene]
  • LOC122056895:Sharpr-MPRA regulatory region 2485 [Gene]
  • LOC122094842:Sharpr-MPRA regulatory region 321 [Gene]
  • LOC122056891:Sharpr-MPRA regulatory region 331 [Gene]
  • LOC121725025:Sharpr-MPRA regulatory region 3519 [Gene]
  • LOC112590819:Sharpr-MPRA regulatory region 3760 [Gene]
  • LOC122094840:Sharpr-MPRA regulatory region 3967 [Gene]
  • LOC122056896:Sharpr-MPRA regulatory region 4387 [Gene]
  • LOC121725026:Sharpr-MPRA regulatory region 4934 [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]
  • LOC122056888:Sharpr-MPRA regulatory region 8067 [Gene]
  • LOC122056887:Sharpr-MPRA regulatory region 8485 [Gene]
  • LOC112590815:Sharpr-MPRA regulatory region 8799 [Gene]
  • LOC121725030:Sharpr-MPRA regulatory region 9183 [Gene]
  • LOC120893141:Sharpr-MPRA regulatory region 9273 [Gene]
  • TM2D1:TM2 domain containing 1 [Gene - OMIM - 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]
  • LOC110120659:VISTA enhancer hs311 [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]
  • AK4:adenylate kinase 4 [Gene - OMIM - HGNC]
  • ANGPTL3:angiopoietin like 3 [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]
  • C1orf141:chromosome 1 open reading frame 141 [Gene - HGNC]
  • C1orf87:chromosome 1 open reading frame 87 [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]
  • DNAI4:dynein axonemal intermediate chain 4 [Gene - OMIM - HGNC]
  • DYNLT5:dynein light chain Tctex-type family member 5 [Gene - OMIM - HGNC]
  • FOXD3:forkhead box D3 [Gene - OMIM - 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]
  • 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]
  • LRRC7:leucine rich repeat containing 7 [Gene - OMIM - HGNC]
  • LINC01358:long intergenic non-protein coding RNA 1358 [Gene - HGNC]
  • LINC01359:long intergenic non-protein coding RNA 1359 [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]
  • LINC01758:long intergenic non-protein coding RNA 1758 [Gene - HGNC]
  • LINC01788:long intergenic non-protein coding RNA 1788 [Gene - HGNC]
  • LINC02777:long intergenic non-protein coding RNA 2777 [Gene - HGNC]
  • LINC02791:long intergenic non-protein coding RNA 2791 [Gene - HGNC]
  • LINC03102:long intergenic non-protein coding RNA 3102 [Gene - HGNC]
  • LINC00466:long intergenic non-protein coding RNA 466 [Gene - 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]
  • MIR4711:microRNA 4711 [Gene - HGNC]
  • MIR4794:microRNA 4794 [Gene - HGNC]
  • MIR6068:microRNA 6068 [Gene - HGNC]
  • NFIA:nuclear factor I A [Gene - OMIM - HGNC]
  • PDE4B:phosphodiesterase 4B [Gene - OMIM - HGNC]
  • PGM1:phosphoglucomutase 1 [Gene - OMIM - HGNC]
  • PTGER3:prostaglandin E receptor 3 [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]
  • SLC35D1:solute carrier family 35 member D1 [Gene - OMIM - HGNC]
  • LOC107983962:translation initiation factor IF-2-like [Gene]
  • 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]
  • LOC101926944:uncharacterized LOC101926944 [Gene]
  • LOC101926964:uncharacterized LOC101926964 [Gene]
  • HSD52:uncharacterized LOC729467 [Gene]
  • ZRANB2:zinc finger RANBP2-type containing 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p32.2-31.1
Genomic location:
Preferred name:
GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1
HGVS:
  • NC_000001.11:g.(?_57350574)_(71325924_?)del
  • NC_000001.10:g.(?_57816246)_(71791607_?)del
  • NC_000001.9:g.(?_57588834)_(71564195_?)del
Links:
dbVar: nssv577207; dbVar: nsv532508
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
SCV000081204GeneDx
criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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, SCV000081204.4

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

Last Updated: Oct 14, 2023