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GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)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:
RCV000136612.7

Allele description [Variation Report for GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1]

GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1

Genes:
  • LOC108165613:11q24.3 distal HERV-mediated recombination region [Gene]
  • LOC108165612:11q24.3 proximal HERV-mediated recombination region [Gene]
  • ADAMTS15:ADAM metallopeptidase with thrombospondin type 1 motif 15 [Gene - OMIM - HGNC]
  • ADAMTS8:ADAM metallopeptidase with thrombospondin type 1 motif 8 [Gene - OMIM - HGNC]
  • LOC130007013:ATAC-STARR-seq lymphoblastoid active region 5697 [Gene]
  • LOC130007014:ATAC-STARR-seq lymphoblastoid active region 5698 [Gene]
  • LOC130007015:ATAC-STARR-seq lymphoblastoid active region 5699 [Gene]
  • LOC130007016:ATAC-STARR-seq lymphoblastoid active region 5700 [Gene]
  • LOC130007017:ATAC-STARR-seq lymphoblastoid active region 5702 [Gene]
  • LOC130007024:ATAC-STARR-seq lymphoblastoid active region 5703 [Gene]
  • LOC130007025:ATAC-STARR-seq lymphoblastoid active region 5704 [Gene]
  • LOC130007026:ATAC-STARR-seq lymphoblastoid active region 5705 [Gene]
  • LOC130007027:ATAC-STARR-seq lymphoblastoid active region 5706 [Gene]
  • LOC130007029:ATAC-STARR-seq lymphoblastoid active region 5707 [Gene]
  • LOC130007030:ATAC-STARR-seq lymphoblastoid active region 5708 [Gene]
  • LOC130007032:ATAC-STARR-seq lymphoblastoid active region 5710 [Gene]
  • LOC130007033:ATAC-STARR-seq lymphoblastoid active region 5711 [Gene]
  • LOC130007034:ATAC-STARR-seq lymphoblastoid active region 5712 [Gene]
  • LOC130007035:ATAC-STARR-seq lymphoblastoid active region 5713 [Gene]
  • LOC130007037:ATAC-STARR-seq lymphoblastoid active region 5714 [Gene]
  • LOC130007038:ATAC-STARR-seq lymphoblastoid active region 5715 [Gene]
  • LOC130007039:ATAC-STARR-seq lymphoblastoid active region 5716 [Gene]
  • LOC130007040:ATAC-STARR-seq lymphoblastoid active region 5717 [Gene]
  • LOC130007041:ATAC-STARR-seq lymphoblastoid active region 5718 [Gene]
  • LOC130007042:ATAC-STARR-seq lymphoblastoid active region 5719 [Gene]
  • LOC130007043:ATAC-STARR-seq lymphoblastoid active region 5720 [Gene]
  • LOC130007044:ATAC-STARR-seq lymphoblastoid active region 5721 [Gene]
  • LOC130007045:ATAC-STARR-seq lymphoblastoid active region 5722 [Gene]
  • LOC130007046:ATAC-STARR-seq lymphoblastoid active region 5723 [Gene]
  • LOC130007047:ATAC-STARR-seq lymphoblastoid active region 5724 [Gene]
  • LOC130007048:ATAC-STARR-seq lymphoblastoid active region 5725 [Gene]
  • LOC130007049:ATAC-STARR-seq lymphoblastoid active region 5728 [Gene]
  • LOC130007050:ATAC-STARR-seq lymphoblastoid active region 5730 [Gene]
  • LOC130007051:ATAC-STARR-seq lymphoblastoid active region 5731 [Gene]
  • LOC130007059:ATAC-STARR-seq lymphoblastoid active region 5733 [Gene]
  • LOC130007060:ATAC-STARR-seq lymphoblastoid active region 5734 [Gene]
  • LOC130007061:ATAC-STARR-seq lymphoblastoid active region 5735 [Gene]
  • LOC130007062:ATAC-STARR-seq lymphoblastoid active region 5736 [Gene]
  • LOC130007063:ATAC-STARR-seq lymphoblastoid active region 5737 [Gene]
  • LOC130007064:ATAC-STARR-seq lymphoblastoid active region 5738 [Gene]
  • LOC130007066:ATAC-STARR-seq lymphoblastoid active region 5740 [Gene]
  • LOC130007067:ATAC-STARR-seq lymphoblastoid active region 5741 [Gene]
  • LOC130007068:ATAC-STARR-seq lymphoblastoid active region 5742 [Gene]
  • LOC130007069:ATAC-STARR-seq lymphoblastoid active region 5743 [Gene]
  • LOC130007071:ATAC-STARR-seq lymphoblastoid active region 5745 [Gene]
  • LOC130007072:ATAC-STARR-seq lymphoblastoid active region 5746 [Gene]
  • LOC130007073:ATAC-STARR-seq lymphoblastoid active region 5747 [Gene]
  • LOC130007080:ATAC-STARR-seq lymphoblastoid active region 5748 [Gene]
  • LOC130007082:ATAC-STARR-seq lymphoblastoid active region 5749 [Gene]
  • LOC130007086:ATAC-STARR-seq lymphoblastoid active region 5750 [Gene]
  • LOC130007089:ATAC-STARR-seq lymphoblastoid active region 5752 [Gene]
  • LOC130007090:ATAC-STARR-seq lymphoblastoid active region 5753 [Gene]
  • LOC130007092:ATAC-STARR-seq lymphoblastoid active region 5754 [Gene]
  • LOC130007093:ATAC-STARR-seq lymphoblastoid active region 5755 [Gene]
  • LOC130007095:ATAC-STARR-seq lymphoblastoid active region 5756 [Gene]
  • LOC130007097:ATAC-STARR-seq lymphoblastoid active region 5757 [Gene]
  • LOC130007098:ATAC-STARR-seq lymphoblastoid active region 5758 [Gene]
  • LOC130007099:ATAC-STARR-seq lymphoblastoid active region 5759 [Gene]
  • LOC130007101:ATAC-STARR-seq lymphoblastoid active region 5760 [Gene]
  • LOC130007103:ATAC-STARR-seq lymphoblastoid active region 5761 [Gene]
  • LOC130007104:ATAC-STARR-seq lymphoblastoid active region 5762 [Gene]
  • LOC130007105:ATAC-STARR-seq lymphoblastoid active region 5763 [Gene]
  • LOC130007106:ATAC-STARR-seq lymphoblastoid active region 5764 [Gene]
  • LOC130007107:ATAC-STARR-seq lymphoblastoid active region 5765 [Gene]
  • LOC130007109:ATAC-STARR-seq lymphoblastoid active region 5766 [Gene]
  • LOC130007113:ATAC-STARR-seq lymphoblastoid active region 5767 [Gene]
  • LOC130007117:ATAC-STARR-seq lymphoblastoid active region 5768 [Gene]
  • LOC130007119:ATAC-STARR-seq lymphoblastoid active region 5769 [Gene]
  • LOC130007120:ATAC-STARR-seq lymphoblastoid active region 5770 [Gene]
  • LOC130007121:ATAC-STARR-seq lymphoblastoid active region 5771 [Gene]
  • LOC130007124:ATAC-STARR-seq lymphoblastoid active region 5772 [Gene]
  • LOC130007125:ATAC-STARR-seq lymphoblastoid active region 5773 [Gene]
  • LOC130007126:ATAC-STARR-seq lymphoblastoid active region 5774 [Gene]
  • LOC130007018:ATAC-STARR-seq lymphoblastoid silent region 4042 [Gene]
  • LOC130007019:ATAC-STARR-seq lymphoblastoid silent region 4043 [Gene]
  • LOC130007020:ATAC-STARR-seq lymphoblastoid silent region 4044 [Gene]
  • LOC130007021:ATAC-STARR-seq lymphoblastoid silent region 4045 [Gene]
  • LOC130007022:ATAC-STARR-seq lymphoblastoid silent region 4046 [Gene]
  • LOC130007023:ATAC-STARR-seq lymphoblastoid silent region 4047 [Gene]
  • LOC130007028:ATAC-STARR-seq lymphoblastoid silent region 4049 [Gene]
  • LOC130007031:ATAC-STARR-seq lymphoblastoid silent region 4052 [Gene]
  • LOC130007036:ATAC-STARR-seq lymphoblastoid silent region 4053 [Gene]
  • LOC130007052:ATAC-STARR-seq lymphoblastoid silent region 4056 [Gene]
  • LOC130007053:ATAC-STARR-seq lymphoblastoid silent region 4057 [Gene]
  • LOC130007054:ATAC-STARR-seq lymphoblastoid silent region 4058 [Gene]
  • LOC130007055:ATAC-STARR-seq lymphoblastoid silent region 4060 [Gene]
  • LOC130007056:ATAC-STARR-seq lymphoblastoid silent region 4061 [Gene]
  • LOC130007057:ATAC-STARR-seq lymphoblastoid silent region 4062 [Gene]
  • LOC130007058:ATAC-STARR-seq lymphoblastoid silent region 4063 [Gene]
  • LOC130007065:ATAC-STARR-seq lymphoblastoid silent region 4064 [Gene]
  • LOC130007070:ATAC-STARR-seq lymphoblastoid silent region 4065 [Gene]
  • LOC130007074:ATAC-STARR-seq lymphoblastoid silent region 4067 [Gene]
  • LOC130007075:ATAC-STARR-seq lymphoblastoid silent region 4068 [Gene]
  • LOC130007076:ATAC-STARR-seq lymphoblastoid silent region 4069 [Gene]
  • LOC130007077:ATAC-STARR-seq lymphoblastoid silent region 4070 [Gene]
  • LOC130007078:ATAC-STARR-seq lymphoblastoid silent region 4071 [Gene]
  • LOC130007079:ATAC-STARR-seq lymphoblastoid silent region 4072 [Gene]
  • LOC130007081:ATAC-STARR-seq lymphoblastoid silent region 4073 [Gene]
  • LOC130007083:ATAC-STARR-seq lymphoblastoid silent region 4074 [Gene]
  • LOC130007084:ATAC-STARR-seq lymphoblastoid silent region 4076 [Gene]
  • LOC130007085:ATAC-STARR-seq lymphoblastoid silent region 4077 [Gene]
  • LOC130007087:ATAC-STARR-seq lymphoblastoid silent region 4078 [Gene]
  • LOC130007088:ATAC-STARR-seq lymphoblastoid silent region 4079 [Gene]
  • LOC130007091:ATAC-STARR-seq lymphoblastoid silent region 4080 [Gene]
  • LOC130007094:ATAC-STARR-seq lymphoblastoid silent region 4081 [Gene]
  • LOC130007096:ATAC-STARR-seq lymphoblastoid silent region 4082 [Gene]
  • LOC130007100:ATAC-STARR-seq lymphoblastoid silent region 4083 [Gene]
  • LOC130007102:ATAC-STARR-seq lymphoblastoid silent region 4084 [Gene]
  • LOC130007108:ATAC-STARR-seq lymphoblastoid silent region 4085 [Gene]
  • LOC130007110:ATAC-STARR-seq lymphoblastoid silent region 4086 [Gene]
  • LOC130007111:ATAC-STARR-seq lymphoblastoid silent region 4087 [Gene]
  • LOC130007112:ATAC-STARR-seq lymphoblastoid silent region 4088 [Gene]
  • LOC130007114:ATAC-STARR-seq lymphoblastoid silent region 4089 [Gene]
  • LOC130007115:ATAC-STARR-seq lymphoblastoid silent region 4092 [Gene]
  • LOC130007116:ATAC-STARR-seq lymphoblastoid silent region 4093 [Gene]
  • LOC130007118:ATAC-STARR-seq lymphoblastoid silent region 4094 [Gene]
  • LOC130007122:ATAC-STARR-seq lymphoblastoid silent region 4095 [Gene]
  • LOC130007123:ATAC-STARR-seq lymphoblastoid silent region 4096 [Gene]
  • LOC130007127:ATAC-STARR-seq lymphoblastoid silent region 4097 [Gene]
  • LOC130007128:ATAC-STARR-seq lymphoblastoid silent region 4098 [Gene]
  • LOC130007129:ATAC-STARR-seq lymphoblastoid silent region 4099 [Gene]
  • B3GAT1-DT:B3GAT1 divergent transcript [Gene - HGNC]
  • BARX2:BARX homeobox 2 [Gene - OMIM - HGNC]
  • LOC126861377:BRD4-independent group 4 enhancer GRCh37_chr11:126208933-126210132 [Gene]
  • LOC126861378:BRD4-independent group 4 enhancer GRCh37_chr11:126923193-126924392 [Gene]
  • LOC126861379:BRD4-independent group 4 enhancer GRCh37_chr11:126924891-126926090 [Gene]
  • LOC126861385:BRD4-independent group 4 enhancer GRCh37_chr11:128868598-128869797 [Gene]
  • LOC126861390:BRD4-independent group 4 enhancer GRCh37_chr11:130347582-130348781 [Gene]
  • LOC126861393:BRD4-independent group 4 enhancer GRCh37_chr11:130741218-130742417 [Gene]
  • LOC126861399:BRD4-independent group 4 enhancer GRCh37_chr11:132483305-132484504 [Gene]
  • LOC126861401:BRD4-independent group 4 enhancer GRCh37_chr11:132780259-132781458 [Gene]
  • LOC126861407:BRD4-independent group 4 enhancer GRCh37_chr11:134617746-134618945 [Gene]
  • LOC126861409:BRD4-independent group 4 enhancer GRCh37_chr11:134818754-134819953 [Gene]
  • LOC108353823:CAGE-defined T cell enhancer downstream of ETS1 [Gene]
  • LOC126861376:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:125278650-125279849 [Gene]
  • LOC126861382:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:128362337-128363536 [Gene]
  • LOC126861383:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:128491606-128492805 [Gene]
  • LOC126861384:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:128570339-128571538 [Gene]
  • LOC126861387:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:129012637-129013836 [Gene]
  • LOC126861394:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:130868662-130869861 [Gene]
  • LOC126861395:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:131211673-131212872 [Gene]
  • LOC126861397:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:132188093-132189292 [Gene]
  • LOC126861398:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:132340747-132341946 [Gene]
  • LOC126861400:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:132502505-132503704 [Gene]
  • LOC126861403:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:133672578-133673777 [Gene]
  • LOC126861405:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:133916360-133917559 [Gene]
  • LOC126861406:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:134045931-134047130 [Gene]
  • LOC128462411:CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128391955-128393363 [Gene]
  • LOC128462392:CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128422800-128423300 [Gene]
  • LOC127823033:CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128480315-128481964 [Gene]
  • LOC128462393:CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128494058-128494944 [Gene]
  • LOC128462394:CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128563455-128564187 [Gene]
  • LOC116225304:CRISPRi-validated cis-regulatory element chr11.5907 [Gene]
  • LOC116225305:CRISPRi-validated cis-regulatory element chr11.5909 [Gene]
  • LOC116225306:CRISPRi-validated cis-regulatory element chr11.5910 [Gene]
  • LOC116225307:CRISPRi-validated cis-regulatory element chr11.6035 [Gene]
  • DDX25:DEAD-box helicase 25 [Gene - OMIM - HGNC]
  • EI24:EI24 autophagy associated transmembrane protein [Gene - OMIM - HGNC]
  • ETS1:ETS proto-oncogene 1, transcription factor [Gene - OMIM - HGNC]
  • ETS1-AS1:ETS1 antisense RNA 1 [Gene - HGNC]
  • FOXRED1:FAD dependent oxidoreductase domain containing 1 [Gene - OMIM - HGNC]
  • FLI1:Fli-1 proto-oncogene, ETS transcription factor [Gene - OMIM - HGNC]
  • GSEC:G-quadruplex forming sequence containing lncRNA [Gene - HGNC]
  • LOC111365219:HNF4 motif-containing MPRA enhancer 115 [Gene]
  • LOC111464985:HNF4 motif-containing MPRA enhancer 230 [Gene]
  • HYLS1:HYLS1 centriolar and ciliogenesis associated [Gene - OMIM - HGNC]
  • KCNJ5-AS1:KCNJ5 antisense RNA 1 [Gene - HGNC]
  • KIRREL3-AS1:KIRREL3 antisense RNA 1 [Gene - HGNC]
  • KIRREL3-AS2:KIRREL3 antisense RNA 2 [Gene - HGNC]
  • KIRREL3-AS3:KIRREL3 antisense RNA 3 [Gene - HGNC]
  • LOC126861380:MED14-independent group 3 enhancer GRCh37_chr11:127180643-127181842 [Gene]
  • LOC126861386:MED14-independent group 3 enhancer GRCh37_chr11:128931012-128932211 [Gene]
  • LOC126861392:MED14-independent group 3 enhancer GRCh37_chr11:130651600-130652799 [Gene]
  • LOC126861396:MED14-independent group 3 enhancer GRCh37_chr11:131958013-131959212 [Gene]
  • LOC126861404:MED14-independent group 3 enhancer GRCh37_chr11:133724195-133725394 [Gene]
  • LOC129390373:MPRA-validated peak1502 silencer [Gene]
  • LOC129390374:MPRA-validated peak1503 silencer [Gene]
  • LOC129390375:MPRA-validated peak1506 silencer [Gene]
  • LOC129390376:MPRA-validated peak1509 silencer [Gene]
  • LOC129390377:MPRA-validated peak1512 silencer [Gene]
  • LOC129390378:MPRA-validated peak1513 silencer [Gene]
  • LOC129390379:MPRA-validated peak1516 silencer [Gene]
  • LOC129390380:MPRA-validated peak1519 silencer [Gene]
  • LOC129390381:MPRA-validated peak1520 silencer [Gene]
  • LOC129390382:MPRA-validated peak1521 silencer [Gene]
  • LOC129390383:MPRA-validated peak1522 silencer [Gene]
  • LOC129390384:MPRA-validated peak1527 silencer [Gene]
  • NTM-AS1:NTM antisense RNA 1 [Gene - HGNC]
  • NTM-IT:NTM intronic transcript [Gene - HGNC]
  • LOC132089907:Neanderthal introgressed variant-containing enhancer experimental_19685 [Gene]
  • LOC132089908:Neanderthal introgressed variant-containing enhancer experimental_19765 [Gene]
  • OPCML-IT1:OPCML intronic transcript 1 [Gene - HGNC]
  • LOC126861381:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:128318161-128319360 [Gene]
  • LOC126861388:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:129509075-129510274 [Gene]
  • LOC126861389:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:130015754-130016953 [Gene]
  • LOC126861391:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:130381109-130382308 [Gene]
  • LOC126861402:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:133440092-133441291 [Gene]
  • LOC126861408:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:134721213-134722412 [Gene]
  • PKNOX2:PBX/knotted 1 homeobox 2 [Gene - OMIM - HGNC]
  • PKNOX2-AS1:PKNOX2 antisense RNA 1 [Gene - HGNC]
  • PRDM10:PR/SET domain 10 [Gene - OMIM - HGNC]
  • PRDM10-DT:PRDM10 divergent transcript [Gene - HGNC]
  • RPUSD4:RNA pseudouridine synthase D4 [Gene - OMIM - HGNC]
  • ARHGAP32:Rho GTPase activating protein 32 [Gene - OMIM - HGNC]
  • SRPRA:SRP receptor subunit alpha [Gene - OMIM - HGNC]
  • ST14:ST14 transmembrane serine protease matriptase [Gene - OMIM - HGNC]
  • ST3GAL4:ST3 beta-galactoside alpha-2,3-sialyltransferase 4 [Gene - OMIM - HGNC]
  • STT3A:STT3 oligosaccharyltransferase complex catalytic subunit A [Gene - OMIM - HGNC]
  • STT3A-AS1:STT3A antisense RNA 1 [Gene - HGNC]
  • LOC124625871:Sharpr-MPRA regulatory region 10235 [Gene]
  • LOC124625868:Sharpr-MPRA regulatory region 11395 [Gene]
  • LOC112061823:Sharpr-MPRA regulatory region 13105 [Gene]
  • LOC124625865:Sharpr-MPRA regulatory region 13231 [Gene]
  • LOC124625874:Sharpr-MPRA regulatory region 13378 [Gene]
  • LOC112067710:Sharpr-MPRA regulatory region 13397 [Gene]
  • LOC112061821:Sharpr-MPRA regulatory region 13423 [Gene]
  • LOC124625873:Sharpr-MPRA regulatory region 14910 [Gene]
  • LOC112061822:Sharpr-MPRA regulatory region 14954 [Gene]
  • LOC121392952:Sharpr-MPRA regulatory region 15285 [Gene]
  • LOC124625870:Sharpr-MPRA regulatory region 15352 [Gene]
  • LOC121392950:Sharpr-MPRA regulatory region 15716 [Gene]
  • LOC124625872:Sharpr-MPRA regulatory region 1894 [Gene]
  • LOC121392949:Sharpr-MPRA regulatory region 2302 [Gene]
  • LOC121392954:Sharpr-MPRA regulatory region 2456 [Gene]
  • LOC121832823:Sharpr-MPRA regulatory region 3666 [Gene]
  • LOC124625866:Sharpr-MPRA regulatory region 4861 [Gene]
  • LOC112061820:Sharpr-MPRA regulatory region 5906 [Gene]
  • LOC121392953:Sharpr-MPRA regulatory region 6145 [Gene]
  • LOC124625867:Sharpr-MPRA regulatory region 6222 [Gene]
  • LOC112067711:Sharpr-MPRA regulatory region 715 [Gene]
  • LOC124625863:Sharpr-MPRA regulatory region 8813 [Gene]
  • LOC121392951:Sharpr-MPRA regulatory region 8939 [Gene]
  • LOC121832822:Sharpr-MPRA regulatory region 9161 [Gene]
  • LOC124625875:Sharpr-MPRA regulatory region 927 [Gene]
  • LOC121832824:Sharpr-MPRA regulatory regions 3502 and 9399 [Gene]
  • TIRAP:TIR domain containing adaptor protein [Gene - OMIM - HGNC]
  • TIRAP-AS1:TIRAP antisense RNA 1 [Gene - HGNC]
  • LOC108281156:TMEM45B-NFRKB intergenic CAGE-defined mid-level expression enhancer [Gene]
  • VSIG10L2:V-set and immunoglobulin domain containing 10 like 2 [Gene - HGNC]
  • LOC110121418:VISTA enhancer hs1641 [Gene]
  • LOC110120853:VISTA enhancer hs335 [Gene]
  • VPS26B:VPS26 retromer complex component B [Gene - OMIM - HGNC]
  • ZBTB44-DT:ZBTB44 divergent transcript [Gene - HGNC]
  • ACRV1:acrosomal vesicle protein 1 [Gene - OMIM - HGNC]
  • ACAD8:acyl-CoA dehydrogenase family member 8 [Gene - OMIM - HGNC]
  • APLP2:amyloid beta precursor like protein 2 [Gene - OMIM - HGNC]
  • B3GAT1:beta-1,3-glucuronyltransferase 1 [Gene - OMIM - HGNC]
  • CDON:cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]
  • CHEK1:checkpoint kinase 1 [Gene - OMIM - HGNC]
  • DCPS:decapping enzyme, scavenger [Gene - OMIM - HGNC]
  • FAM118B:family with sequence similarity 118 member B [Gene - OMIM - HGNC]
  • FEZ1:fasciculation and elongation protein zeta 1 [Gene - OMIM - HGNC]
  • GLB1L2:galactosidase beta 1 like 2 [Gene - HGNC]
  • GLB1L3:galactosidase beta 1 like 3 [Gene - HGNC]
  • IGSF9B:immunoglobulin superfamily member 9B [Gene - OMIM - HGNC]
  • JAM3:junctional adhesion molecule 3 [Gene - OMIM - HGNC]
  • KIRREL3:kirre like nephrin family adhesion molecule 3 [Gene - OMIM - HGNC]
  • LINC01395:long intergenic non-protein coding RNA 1395 [Gene - HGNC]
  • LINC02098:long intergenic non-protein coding RNA 2098 [Gene - HGNC]
  • LINC02551:long intergenic non-protein coding RNA 2551 [Gene - HGNC]
  • LINC02697:long intergenic non-protein coding RNA 2697 [Gene - HGNC]
  • LINC02706:long intergenic non-protein coding RNA 2706 [Gene - HGNC]
  • LINC02712:long intergenic non-protein coding RNA 2712 [Gene - HGNC]
  • LINC02714:long intergenic non-protein coding RNA 2714 [Gene - HGNC]
  • LINC02725:long intergenic non-protein coding RNA 2725 [Gene - HGNC]
  • LINC02730:long intergenic non-protein coding RNA 2730 [Gene - HGNC]
  • LINC02731:long intergenic non-protein coding RNA 2731 [Gene - HGNC]
  • LINC02743:long intergenic non-protein coding RNA 2743 [Gene - HGNC]
  • LINC02873:long intergenic non-protein coding RNA 2873 [Gene - HGNC]
  • MIR3167:microRNA 3167 [Gene - HGNC]
  • MIR4697:microRNA 4697 [Gene - HGNC]
  • MIR6090:microRNA 6090 [Gene - HGNC]
  • MIR8052:microRNA 8052 [Gene - HGNC]
  • NTM:neurotrimin [Gene - OMIM - HGNC]
  • NCAPD3:non-SMC condensin II complex subunit D3 [Gene - OMIM - HGNC]
  • NFRKB:nuclear factor related to kappaB binding protein [Gene - OMIM - HGNC]
  • OPCML:opioid binding protein/cell adhesion molecule like [Gene - OMIM - HGNC]
  • KCNJ1:potassium inwardly rectifying channel subfamily J member 1 [Gene - OMIM - HGNC]
  • KCNJ5:potassium inwardly rectifying channel subfamily J member 5 [Gene - OMIM - HGNC]
  • PATE1:prostate and testis expressed 1 [Gene - OMIM - HGNC]
  • PATE2:prostate and testis expressed 2 [Gene - HGNC]
  • PATE3:prostate and testis expressed 3 [Gene - HGNC]
  • PATE4:prostate and testis expressed 4 [Gene - HGNC]
  • PUS3:pseudouridine synthase 3 [Gene - OMIM - HGNC]
  • LOC403312:putative uncharacterized protein MGC39545 [Gene]
  • SNORD153:small nucleolar RNA, C/D box 153 [Gene - HGNC]
  • SENCR:smooth muscle and endothelial cell enriched migration/differentiation-associated lncRNA [Gene - OMIM - HGNC]
  • SNX19:sorting nexin 19 [Gene - HGNC]
  • SPATA19:spermatogenesis associated 19 [Gene - OMIM - HGNC]
  • THYN1:thymocyte nuclear protein 1 [Gene - OMIM - HGNC]
  • TMEM45B:transmembrane protein 45B [Gene - HGNC]
  • TP53AIP1:tumor protein p53 regulated apoptosis inducing protein 1 [Gene - OMIM - HGNC]
  • LOC100507548:uncharacterized LOC100507548 [Gene]
  • LOC101929427:uncharacterized LOC101929427 [Gene]
  • LOC101929473:uncharacterized LOC101929473 [Gene]
  • LOC101929538:uncharacterized LOC101929538 [Gene]
  • LOC101929653:uncharacterized LOC101929653 [Gene]
  • LOC105369558:uncharacterized LOC105369558 [Gene]
  • LOC118567325:uncharacterized LOC118567325 [Gene]
  • LOC399975:uncharacterized LOC399975 [Gene]
  • ZBTB44:zinc finger and BTB domain containing 44 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11q24.2-25
Genomic location:
Preferred name:
GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1
HGVS:
  • NC_000011.10:g.(?_125241472)_(134998513_?)del
  • NC_000011.8:g.(?_124616578)_(134373617_?)del
  • NC_000011.9:g.(?_125111368)_(134868407_?)del
Links:
dbVar: nssv582515; dbVar: nsv533932
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000176704ISCA site 1

See additional submitters

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

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

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000176704.4

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

Last Updated: May 7, 2024