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GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)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:
RCV000142708.5

Allele description

GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1

Genes:
  • ARL4A:ADP ribosylation factor like GTPase 4A [Gene - OMIM - HGNC]
  • LOC129997994:ATAC-STARR-seq lymphoblastoid active region 25660 [Gene]
  • LOC129997995:ATAC-STARR-seq lymphoblastoid active region 25661 [Gene]
  • LOC129997997:ATAC-STARR-seq lymphoblastoid active region 25662 [Gene]
  • LOC129997998:ATAC-STARR-seq lymphoblastoid active region 25664 [Gene]
  • LOC129997999:ATAC-STARR-seq lymphoblastoid active region 25665 [Gene]
  • LOC129998001:ATAC-STARR-seq lymphoblastoid active region 25666 [Gene]
  • LOC129998002:ATAC-STARR-seq lymphoblastoid active region 25667 [Gene]
  • LOC129998003:ATAC-STARR-seq lymphoblastoid active region 25668 [Gene]
  • LOC129998006:ATAC-STARR-seq lymphoblastoid active region 25669 [Gene]
  • LOC129998007:ATAC-STARR-seq lymphoblastoid active region 25670 [Gene]
  • LOC129998008:ATAC-STARR-seq lymphoblastoid active region 25671 [Gene]
  • LOC129998009:ATAC-STARR-seq lymphoblastoid active region 25672 [Gene]
  • LOC129998014:ATAC-STARR-seq lymphoblastoid active region 25675 [Gene]
  • LOC129998015:ATAC-STARR-seq lymphoblastoid active region 25676 [Gene]
  • LOC129998016:ATAC-STARR-seq lymphoblastoid active region 25677 [Gene]
  • LOC129998017:ATAC-STARR-seq lymphoblastoid active region 25678 [Gene]
  • LOC129998018:ATAC-STARR-seq lymphoblastoid active region 25679 [Gene]
  • LOC129998019:ATAC-STARR-seq lymphoblastoid active region 25680 [Gene]
  • LOC129998021:ATAC-STARR-seq lymphoblastoid active region 25682 [Gene]
  • LOC129998022:ATAC-STARR-seq lymphoblastoid active region 25685 [Gene]
  • LOC129998024:ATAC-STARR-seq lymphoblastoid active region 25686 [Gene]
  • LOC129998025:ATAC-STARR-seq lymphoblastoid active region 25687 [Gene]
  • LOC129998026:ATAC-STARR-seq lymphoblastoid active region 25688 [Gene]
  • LOC129998028:ATAC-STARR-seq lymphoblastoid active region 25691 [Gene]
  • LOC129998029:ATAC-STARR-seq lymphoblastoid active region 25692 [Gene]
  • LOC129998030:ATAC-STARR-seq lymphoblastoid active region 25693 [Gene]
  • LOC129998031:ATAC-STARR-seq lymphoblastoid active region 25694 [Gene]
  • LOC129998037:ATAC-STARR-seq lymphoblastoid active region 25695 [Gene]
  • LOC129998038:ATAC-STARR-seq lymphoblastoid active region 25696 [Gene]
  • LOC129998039:ATAC-STARR-seq lymphoblastoid active region 25697 [Gene]
  • LOC129998040:ATAC-STARR-seq lymphoblastoid active region 25698 [Gene]
  • LOC129998041:ATAC-STARR-seq lymphoblastoid active region 25699 [Gene]
  • LOC129998045:ATAC-STARR-seq lymphoblastoid active region 25700 [Gene]
  • LOC129998047:ATAC-STARR-seq lymphoblastoid active region 25702 [Gene]
  • LOC129998050:ATAC-STARR-seq lymphoblastoid active region 25704 [Gene]
  • LOC129998051:ATAC-STARR-seq lymphoblastoid active region 25705 [Gene]
  • LOC129998052:ATAC-STARR-seq lymphoblastoid active region 25706 [Gene]
  • LOC129998055:ATAC-STARR-seq lymphoblastoid active region 25707 [Gene]
  • LOC129998056:ATAC-STARR-seq lymphoblastoid active region 25708 [Gene]
  • LOC129998059:ATAC-STARR-seq lymphoblastoid active region 25712 [Gene]
  • LOC129998060:ATAC-STARR-seq lymphoblastoid active region 25713 [Gene]
  • LOC129998062:ATAC-STARR-seq lymphoblastoid active region 25714 [Gene]
  • LOC129998063:ATAC-STARR-seq lymphoblastoid active region 25715 [Gene]
  • LOC129998064:ATAC-STARR-seq lymphoblastoid active region 25719 [Gene]
  • LOC129998065:ATAC-STARR-seq lymphoblastoid active region 25720 [Gene]
  • LOC129998067:ATAC-STARR-seq lymphoblastoid active region 25721 [Gene]
  • LOC129998068:ATAC-STARR-seq lymphoblastoid active region 25722 [Gene]
  • LOC129998069:ATAC-STARR-seq lymphoblastoid active region 25723 [Gene]
  • LOC129998072:ATAC-STARR-seq lymphoblastoid active region 25724 [Gene]
  • LOC129998073:ATAC-STARR-seq lymphoblastoid active region 25725 [Gene]
  • LOC129998074:ATAC-STARR-seq lymphoblastoid active region 25726 [Gene]
  • LOC129998076:ATAC-STARR-seq lymphoblastoid active region 25727 [Gene]
  • LOC129998077:ATAC-STARR-seq lymphoblastoid active region 25728 [Gene]
  • LOC129998079:ATAC-STARR-seq lymphoblastoid active region 25729 [Gene]
  • LOC129998081:ATAC-STARR-seq lymphoblastoid active region 25730 [Gene]
  • LOC129998082:ATAC-STARR-seq lymphoblastoid active region 25731 [Gene]
  • LOC129998083:ATAC-STARR-seq lymphoblastoid active region 25736 [Gene]
  • LOC129998084:ATAC-STARR-seq lymphoblastoid active region 25737 [Gene]
  • LOC129998085:ATAC-STARR-seq lymphoblastoid active region 25738 [Gene]
  • LOC129998088:ATAC-STARR-seq lymphoblastoid active region 25739 [Gene]
  • LOC129998090:ATAC-STARR-seq lymphoblastoid active region 25741 [Gene]
  • LOC129998091:ATAC-STARR-seq lymphoblastoid active region 25742 [Gene]
  • LOC129998092:ATAC-STARR-seq lymphoblastoid active region 25743 [Gene]
  • LOC129998093:ATAC-STARR-seq lymphoblastoid active region 25744 [Gene]
  • LOC129998094:ATAC-STARR-seq lymphoblastoid active region 25746 [Gene]
  • LOC129998095:ATAC-STARR-seq lymphoblastoid active region 25747 [Gene]
  • LOC129998096:ATAC-STARR-seq lymphoblastoid active region 25748 [Gene]
  • LOC129998097:ATAC-STARR-seq lymphoblastoid active region 25749 [Gene]
  • LOC129998098:ATAC-STARR-seq lymphoblastoid active region 25750 [Gene]
  • LOC129998099:ATAC-STARR-seq lymphoblastoid active region 25751 [Gene]
  • LOC129998100:ATAC-STARR-seq lymphoblastoid active region 25752 [Gene]
  • LOC129998101:ATAC-STARR-seq lymphoblastoid active region 25753 [Gene]
  • LOC129998104:ATAC-STARR-seq lymphoblastoid active region 25754 [Gene]
  • LOC129998106:ATAC-STARR-seq lymphoblastoid active region 25755 [Gene]
  • LOC129998107:ATAC-STARR-seq lymphoblastoid active region 25756 [Gene]
  • LOC129998108:ATAC-STARR-seq lymphoblastoid active region 25757 [Gene]
  • LOC129998109:ATAC-STARR-seq lymphoblastoid active region 25758 [Gene]
  • LOC129998110:ATAC-STARR-seq lymphoblastoid active region 25759 [Gene]
  • LOC129998111:ATAC-STARR-seq lymphoblastoid active region 25760 [Gene]
  • LOC129998112:ATAC-STARR-seq lymphoblastoid active region 25761 [Gene]
  • LOC129998115:ATAC-STARR-seq lymphoblastoid active region 25762 [Gene]
  • LOC129998116:ATAC-STARR-seq lymphoblastoid active region 25763 [Gene]
  • LOC129998117:ATAC-STARR-seq lymphoblastoid active region 25764 [Gene]
  • LOC129998118:ATAC-STARR-seq lymphoblastoid active region 25765 [Gene]
  • LOC129998119:ATAC-STARR-seq lymphoblastoid active region 25766 [Gene]
  • LOC129998120:ATAC-STARR-seq lymphoblastoid active region 25767 [Gene]
  • LOC129998121:ATAC-STARR-seq lymphoblastoid active region 25768 [Gene]
  • LOC129997992:ATAC-STARR-seq lymphoblastoid silent region 17973 [Gene]
  • LOC129997993:ATAC-STARR-seq lymphoblastoid silent region 17975 [Gene]
  • LOC129997996:ATAC-STARR-seq lymphoblastoid silent region 17976 [Gene]
  • LOC129998000:ATAC-STARR-seq lymphoblastoid silent region 17979 [Gene]
  • LOC129998004:ATAC-STARR-seq lymphoblastoid silent region 17981 [Gene]
  • LOC129998005:ATAC-STARR-seq lymphoblastoid silent region 17982 [Gene]
  • LOC129998010:ATAC-STARR-seq lymphoblastoid silent region 17983 [Gene]
  • LOC129998011:ATAC-STARR-seq lymphoblastoid silent region 17984 [Gene]
  • LOC129998012:ATAC-STARR-seq lymphoblastoid silent region 17985 [Gene]
  • LOC129998013:ATAC-STARR-seq lymphoblastoid silent region 17986 [Gene]
  • LOC129998020:ATAC-STARR-seq lymphoblastoid silent region 17987 [Gene]
  • LOC129998023:ATAC-STARR-seq lymphoblastoid silent region 17988 [Gene]
  • LOC129998027:ATAC-STARR-seq lymphoblastoid silent region 17989 [Gene]
  • LOC129998032:ATAC-STARR-seq lymphoblastoid silent region 17990 [Gene]
  • LOC129998033:ATAC-STARR-seq lymphoblastoid silent region 17991 [Gene]
  • LOC129998034:ATAC-STARR-seq lymphoblastoid silent region 17992 [Gene]
  • LOC129998035:ATAC-STARR-seq lymphoblastoid silent region 17993 [Gene]
  • LOC129998036:ATAC-STARR-seq lymphoblastoid silent region 17994 [Gene]
  • LOC129998042:ATAC-STARR-seq lymphoblastoid silent region 17995 [Gene]
  • LOC129998043:ATAC-STARR-seq lymphoblastoid silent region 17996 [Gene]
  • LOC129998044:ATAC-STARR-seq lymphoblastoid silent region 17997 [Gene]
  • LOC129998046:ATAC-STARR-seq lymphoblastoid silent region 17998 [Gene]
  • LOC129998048:ATAC-STARR-seq lymphoblastoid silent region 17999 [Gene]
  • LOC129998049:ATAC-STARR-seq lymphoblastoid silent region 18000 [Gene]
  • LOC129998053:ATAC-STARR-seq lymphoblastoid silent region 18001 [Gene]
  • LOC129998054:ATAC-STARR-seq lymphoblastoid silent region 18002 [Gene]
  • LOC129998057:ATAC-STARR-seq lymphoblastoid silent region 18003 [Gene]
  • LOC129998058:ATAC-STARR-seq lymphoblastoid silent region 18004 [Gene]
  • LOC129998061:ATAC-STARR-seq lymphoblastoid silent region 18005 [Gene]
  • LOC129998066:ATAC-STARR-seq lymphoblastoid silent region 18006 [Gene]
  • LOC129998070:ATAC-STARR-seq lymphoblastoid silent region 18007 [Gene]
  • LOC129998071:ATAC-STARR-seq lymphoblastoid silent region 18008 [Gene]
  • LOC129998075:ATAC-STARR-seq lymphoblastoid silent region 18011 [Gene]
  • LOC129998078:ATAC-STARR-seq lymphoblastoid silent region 18012 [Gene]
  • LOC129998080:ATAC-STARR-seq lymphoblastoid silent region 18013 [Gene]
  • LOC129998086:ATAC-STARR-seq lymphoblastoid silent region 18014 [Gene]
  • LOC129998087:ATAC-STARR-seq lymphoblastoid silent region 18015 [Gene]
  • LOC129998089:ATAC-STARR-seq lymphoblastoid silent region 18016 [Gene]
  • LOC129998102:ATAC-STARR-seq lymphoblastoid silent region 18018 [Gene]
  • LOC129998103:ATAC-STARR-seq lymphoblastoid silent region 18019 [Gene]
  • LOC129998105:ATAC-STARR-seq lymphoblastoid silent region 18020 [Gene]
  • LOC129998113:ATAC-STARR-seq lymphoblastoid silent region 18021 [Gene]
  • LOC129998114:ATAC-STARR-seq lymphoblastoid silent region 18022 [Gene]
  • LOC129998122:ATAC-STARR-seq lymphoblastoid silent region 18023 [Gene]
  • LOC129998123:ATAC-STARR-seq lymphoblastoid silent region 18024 [Gene]
  • ABCB5:ATP binding cassette subfamily B member 5 [Gene - OMIM - HGNC]
  • LOC126859942:BRD4-independent group 4 enhancer GRCh37_chr7:12596820-12598019 [Gene]
  • LOC126859944:BRD4-independent group 4 enhancer GRCh37_chr7:12714709-12715908 [Gene]
  • LOC126859945:BRD4-independent group 4 enhancer GRCh37_chr7:12963056-12964255 [Gene]
  • LOC126859949:BRD4-independent group 4 enhancer GRCh37_chr7:16116228-16117427 [Gene]
  • LOC126859955:BRD4-independent group 4 enhancer GRCh37_chr7:19183777-19184976 [Gene]
  • LOC126859959:BRD4-independent group 4 enhancer GRCh37_chr7:20866537-20867736 [Gene]
  • LOC126859961:BRD4-independent group 4 enhancer GRCh37_chr7:21639662-21640861 [Gene]
  • LOC126859962:BRD4-independent group 4 enhancer GRCh37_chr7:21937780-21938979 [Gene]
  • LOC126859963:BRD4-independent group 4 enhancer GRCh37_chr7:22766269-22767468 [Gene]
  • LOC126859964:BRD4-independent group 4 enhancer GRCh37_chr7:22898129-22899328 [Gene]
  • LOC126859967:BRD4-independent group 4 enhancer GRCh37_chr7:24317744-24318943 [Gene]
  • LOC126859969:BRD4-independent group 4 enhancer GRCh37_chr7:25560334-25561533 [Gene]
  • LOC108254689:CAGE-defined low expression enhancer in LOC100506178-LOC401312 intergenic region [Gene]
  • LOC126859943:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:12635263-12636462 [Gene]
  • LOC126859946:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:13056242-13057441 [Gene]
  • LOC126859958:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:20681108-20682307 [Gene]
  • LOC126859968:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:24865671-24866870 [Gene]
  • CRPPA:CDP-L-ribitol pyrophosphorylase A [Gene - OMIM - HGNC]
  • LOC116183085:CRISPRi-validated cis-regulatory element chr7.1000 [Gene]
  • LOC116183086:CRISPRi-validated cis-regulatory element chr7.1154 [Gene]
  • LOC116183087:CRISPRi-validated cis-regulatory element chr7.1155 [Gene]
  • CRPPA-AS1:CRPPA antisense RNA 1 [Gene - HGNC]
  • ETV1:ETS variant transcription factor 1 [Gene - OMIM - HGNC]
  • FERD3L:Fer3 like bHLH transcription factor [Gene - OMIM - HGNC]
  • LOC111591502:GATA motif-containing MPRA enhancer 275 [Gene]
  • LOC111365192:GATA motif-containing MPRA enhancer 55/56 [Gene]
  • HDAC9-AS1:HDAC9 antisense RNA 1 [Gene - HGNC]
  • LOC111413014:HNF4 motif-containing MPRA enhancer 142 [Gene]
  • IL6-AS1:IL6 antisense RNA 1 [Gene - HGNC]
  • ITGB8-AS1:ITGB8 antisense RNA 1 [Gene - HGNC]
  • KLHL7-DT:KLHL7 divergent transcript [Gene - HGNC]
  • MACC1-AS1:MACC1 antisense RNA 1 [Gene - HGNC]
  • LOC126859948:MED14-independent group 3 enhancer GRCh37_chr7:14119884-14121083 [Gene]
  • LOC126859951:MED14-independent group 3 enhancer GRCh37_chr7:17411084-17412283 [Gene]
  • LOC126859953:MED14-independent group 3 enhancer GRCh37_chr7:18459909-18461108 [Gene]
  • LOC126859957:MED14-independent group 3 enhancer GRCh37_chr7:20434600-20435799 [Gene]
  • MACC1:MET transcriptional regulator MACC1 [Gene - OMIM - HGNC]
  • LOC129389744:MPRA-validated peak6384 silencer [Gene]
  • LOC129389745:MPRA-validated peak6385 silencer [Gene]
  • LOC129389746:MPRA-validated peak6386 silencer [Gene]
  • LOC129389747:MPRA-validated peak6387 silencer [Gene]
  • LOC129389748:MPRA-validated peak6388 silencer [Gene]
  • LOC129389749:MPRA-validated peak6389 silencer [Gene]
  • LOC129389750:MPRA-validated peak6391 silencer [Gene]
  • LOC129389751:MPRA-validated peak6392 silencer [Gene]
  • LOC129389752:MPRA-validated peak6396 silencer [Gene]
  • LOC129389753:MPRA-validated peak6397 silencer [Gene]
  • LOC129389754:MPRA-validated peak6401 silencer [Gene]
  • LOC129389755:MPRA-validated peak6403 silencer [Gene]
  • LOC129389756:MPRA-validated peak6405 silencer [Gene]
  • LOC129389757:MPRA-validated peak6410 silencer [Gene]
  • LOC129389758:MPRA-validated peak6411 silencer [Gene]
  • LOC129389759:MPRA-validated peak6414 silencer [Gene]
  • LOC129389760:MPRA-validated peak6415 silencer [Gene]
  • LOC129389761:MPRA-validated peak6419 silencer [Gene]
  • LOC129389762:MPRA-validated peak6420 silencer [Gene]
  • LOC129389763:MPRA-validated peak6423 silencer [Gene]
  • LOC129389764:MPRA-validated peak6424 silencer [Gene]
  • LOC129389765:MPRA-validated peak6425 silencer [Gene]
  • LOC129389766:MPRA-validated peak6433 silencer [Gene]
  • LOC129389767:MPRA-validated peak6435 silencer [Gene]
  • LOC129389768:MPRA-validated peak6439 silencer [Gene]
  • LOC129389769:MPRA-validated peak6442 silencer [Gene]
  • LOC129389770:MPRA-validated peak6444 silencer [Gene]
  • NDUFA4:NDUFA4 mitochondrial complex associated [Gene - OMIM - HGNC]
  • LOC111365184:NFE2L2 motif-containing MPRA enhancer 39 [Gene]
  • LOC132089521:Neanderthal introgressed variant-containing enhancer experimental_98149 [Gene]
  • LOC132089523:Neanderthal introgressed variant-containing enhancer experimental_98226 [Gene]
  • LOC126859941:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:12105584-12106783 [Gene]
  • LOC126859947:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:13818290-13819489 [Gene]
  • LOC126859950:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:17273731-17274930 [Gene]
  • LOC126859952:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:17445039-17446238 [Gene]
  • LOC126859954:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:18548259-18549458 [Gene]
  • LOC126859956:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:20256832-20258031 [Gene]
  • LOC126859960:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:21050446-21051645 [Gene]
  • LOC126859965:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:23060419-23061618 [Gene]
  • LOC126859966:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:24168801-24170000 [Gene]
  • PHF14:PHD finger protein 14 [Gene - OMIM - HGNC]
  • POLR1F:RNA polymerase I subunit F [Gene - OMIM - HGNC]
  • RAPGEF5:Rap guanine nucleotide exchange factor 5 [Gene - OMIM - HGNC]
  • STEAP1B:STEAP family member 1B [Gene - HGNC]
  • STEAP1B-AS1:STEAP1B antisense RNA 1 [Gene - HGNC]
  • LOC123924919:Sharpr-MPRA regulatory region 10260 [Gene]
  • LOC123924904:Sharpr-MPRA regulatory region 10361 [Gene]
  • LOC123924911:Sharpr-MPRA regulatory region 11479 [Gene]
  • LOC123924902:Sharpr-MPRA regulatory region 11821 [Gene]
  • LOC123924910:Sharpr-MPRA regulatory region 12164 [Gene]
  • LOC121175337:Sharpr-MPRA regulatory region 12520 [Gene]
  • LOC123924906:Sharpr-MPRA regulatory region 12730 [Gene]
  • LOC123924921:Sharpr-MPRA regulatory region 13058 [Gene]
  • LOC113743975:Sharpr-MPRA regulatory region 1382 [Gene]
  • LOC123924905:Sharpr-MPRA regulatory region 14677 [Gene]
  • LOC113687203:Sharpr-MPRA regulatory region 14752 [Gene]
  • LOC123924908:Sharpr-MPRA regulatory region 14985 [Gene]
  • LOC123924915:Sharpr-MPRA regulatory region 1729 [Gene]
  • LOC123924920:Sharpr-MPRA regulatory region 3197 [Gene]
  • LOC123924917:Sharpr-MPRA regulatory region 4516 [Gene]
  • LOC123924903:Sharpr-MPRA regulatory region 5173 [Gene]
  • LOC123924916:Sharpr-MPRA regulatory region 5184 [Gene]
  • LOC123924901:Sharpr-MPRA regulatory region 6026 [Gene]
  • LOC123924918:Sharpr-MPRA regulatory region 6228 [Gene]
  • LOC123924909:Sharpr-MPRA regulatory region 6485 [Gene]
  • LOC123924914:Sharpr-MPRA regulatory region 6645 [Gene]
  • LOC123924907:Sharpr-MPRA regulatory region 6845 [Gene]
  • LOC123924913:Sharpr-MPRA regulatory region 7324 [Gene]
  • LOC113687186:Sharpr-MPRA regulatory region 7861 [Gene]
  • LOC113748383:Sharpr-MPRA regulatory region 9537 [Gene]
  • LOC123924912:Sharpr-MPRA regulatory regions 10536 and 6796 [Gene]
  • SP4:Sp4 transcription factor [Gene - OMIM - HGNC]
  • SP8:Sp8 transcription factor [Gene - OMIM - HGNC]
  • LOC110120961:VISTA enhancer hs1007 [Gene]
  • LOC110120964:VISTA enhancer hs1019 [Gene]
  • LOC110120589:VISTA enhancer hs110 [Gene]
  • LOC110121006:VISTA enhancer hs1148 [Gene]
  • LOC110121034:VISTA enhancer hs1226 [Gene]
  • LOC110121058:VISTA enhancer hs1325 [Gene]
  • LOC110121156:VISTA enhancer hs1600 [Gene]
  • LOC110121185:VISTA enhancer hs1677 [Gene]
  • LOC110120650:VISTA enhancer hs294 [Gene]
  • LOC110120700:VISTA enhancer hs550 [Gene]
  • LOC110120728:VISTA enhancer hs644 [Gene]
  • LOC110120749:VISTA enhancer hs701 [Gene]
  • LOC110120758:VISTA enhancer hs749 [Gene]
  • LOC110120772:VISTA enhancer hs793 [Gene]
  • LOC110120775:VISTA enhancer hs807 [Gene]
  • LOC110120778:VISTA enhancer hs816 [Gene]
  • LOC110120786:VISTA enhancer hs844 [Gene]
  • AGMO:alkylglycerol monooxygenase [Gene - OMIM - HGNC]
  • ANKMY2:ankyrin repeat and MYND domain containing 2 [Gene - HGNC]
  • AGR2:anterior gradient 2, protein disulphide isomerase family member [Gene - OMIM - HGNC]
  • AGR3:anterior gradient 3, protein disulphide isomerase family member [Gene - OMIM - HGNC]
  • AHR:aryl hydrocarbon receptor [Gene - OMIM - HGNC]
  • BZW2:basic leucine zipper and W2 domains 2 [Gene - OMIM - HGNC]
  • CDCA7L:cell division cycle associated 7 like [Gene - OMIM - HGNC]
  • CCDC126:coiled-coil domain containing 126 [Gene - HGNC]
  • CYCS:cytochrome c, somatic [Gene - OMIM - HGNC]
  • DGKB:diacylglycerol kinase beta [Gene - OMIM - HGNC]
  • DNAH11:dynein axonemal heavy chain 11 [Gene - OMIM - HGNC]
  • LOC110121290:eExon 18 TWIST1 limb enhancer [Gene]
  • LOC110121291:eExon 19 TWIST1 limb enhancer [Gene]
  • FAM221A:family with sequence similarity 221 member A [Gene - HGNC]
  • GSDME:gasdermin E [Gene - OMIM - HGNC]
  • GIRGL:glutamine insufficiency regulator of glutaminase lncRNA [Gene - HGNC]
  • GPNMB:glycoprotein nmb [Gene - OMIM - HGNC]
  • HDAC9:histone deacetylase 9 [Gene - OMIM - HGNC]
  • HYCC1:hyccin PI4KA lipid kinase complex subunit 1 [Gene - OMIM - HGNC]
  • IGF2BP3:insulin like growth factor 2 mRNA binding protein 3 [Gene - OMIM - HGNC]
  • ITGB8:integrin subunit beta 8 [Gene - OMIM - HGNC]
  • IL6:interleukin 6 [Gene - OMIM - HGNC]
  • KLHL7:kelch like family member 7 [Gene - OMIM - HGNC]
  • LRRC72:leucine rich repeat containing 72 [Gene - HGNC]
  • LINC01162:long intergenic non-protein coding RNA 1162 [Gene - HGNC]
  • LINC02587:long intergenic non-protein coding RNA 2587 [Gene - HGNC]
  • LINC02888:long intergenic non-protein coding RNA 2888 [Gene - HGNC]
  • LINC02889:long intergenic non-protein coding RNA 2889 [Gene - HGNC]
  • LINC03007:long intergenic non-protein coding RNA 3007 [Gene - HGNC]
  • LOC128772304:melanoma risk locus-associated MPRA allelic enhancer 7:17134708 [Gene]
  • LOC128772305:melanoma risk locus-associated MPRA allelic enhancer 7:22097966 [Gene]
  • LOC128772306:melanoma risk locus-associated MPRA allelic enhancer 7:22117733 [Gene]
  • LOC128772307:melanoma risk locus-associated MPRA allelic enhancer 7:22118756 [Gene]
  • LOC128772308:melanoma risk locus-associated MPRA allelic enhancer 7:22119917 [Gene]
  • LOC128772309:melanoma risk locus-associated MPRA allelic enhancer 7:22121421 [Gene]
  • LOC128772310:melanoma risk locus-associated MPRA allelic enhancer 7:22123422 [Gene]
  • LOC128772311:melanoma risk locus-associated MPRA allelic enhancer 7:22141595 [Gene]
  • MEOX2:mesenchyme homeobox 2 [Gene - OMIM - HGNC]
  • MIR1183:microRNA 1183 [Gene - HGNC]
  • MIR1302-6:microRNA 1302-6 [Gene - HGNC]
  • MIR3146:microRNA 3146 [Gene - HGNC]
  • MALSU1:mitochondrial assembly of ribosomal large subunit 1 [Gene - OMIM - HGNC]
  • NPVF:neuropeptide VF precursor [Gene - OMIM - HGNC]
  • NPY:neuropeptide Y [Gene - OMIM - HGNC]
  • NUP42:nucleoporin 42 [Gene - OMIM - HGNC]
  • OSBPL3:oxysterol binding protein like 3 [Gene - OMIM - HGNC]
  • PRPS1L1:phosphoribosyl pyrophosphate synthetase 1 like 1 [Gene - OMIM - HGNC]
  • PALS2:protein associated with LIN7 2, MAGUK p55 family member [Gene - OMIM - HGNC]
  • SCIN:scinderin [Gene - OMIM - HGNC]
  • SOSTDC1:sclerostin domain containing 1 [Gene - OMIM - HGNC]
  • STK31:serine/threonine kinase 31 [Gene - OMIM - HGNC]
  • SNHG26:small nucleolar RNA host gene 26 [Gene - HGNC]
  • SNORD65C:small nucleolar RNA, C/D box 65C [Gene - HGNC]
  • SNORD93:small nucleolar RNA, C/D box 93 [Gene - HGNC]
  • SNX13:sorting nexin 13 [Gene - OMIM - HGNC]
  • SPMIP4:sperm microtubule inner protein 4 [Gene - OMIM - HGNC]
  • TSPAN13:tetraspanin 13 [Gene - OMIM - HGNC]
  • THSD7A:thrombospondin type 1 domain containing 7A [Gene - OMIM - HGNC]
  • TRA2A:transformer 2 alpha homolog [Gene - OMIM - HGNC]
  • TOMM7:translocase of outer mitochondrial membrane 7 [Gene - OMIM - HGNC]
  • TMEM106B:transmembrane protein 106B [Gene - OMIM - HGNC]
  • TMEM196:transmembrane protein 196 [Gene - HGNC]
  • TWIST1:twist family bHLH transcription factor 1 [Gene - OMIM - HGNC]
  • LOC100131472:uncharacterized LOC100131472 [Gene]
  • LOC101927668:uncharacterized LOC101927668 [Gene]
  • LOC101927769:uncharacterized LOC101927769 [Gene]
  • LOC102725191:uncharacterized LOC102725191 [Gene]
  • LOC105375166:uncharacterized LOC105375166 [Gene]
  • LOC105375181:uncharacterized LOC105375181 [Gene]
  • LOC401312:uncharacterized LOC401312 [Gene]
  • MGC4859:uncharacterized LOC79150 [Gene]
  • VWDE:von Willebrand factor D and EGF domains [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7p21.3-15.2
Genomic location:
Preferred name:
GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1
HGVS:
  • NC_000007.14:g.(?_10610069)_(25760560_?)del
  • NC_000007.12:g.(?_10616221)_(25766705_?)del
  • NC_000007.13:g.(?_10649696)_(25800180_?)del
Links:
dbVar: nssv582803; dbVar: nsv534242
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
SCV000177020ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humande novoyes1not 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, SCV000177020.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023