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GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 10, 2011
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:
RCV000137466.6

Allele description [Variation Report for GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3]

GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3

Genes:
  • OPLAH:5-oxoprolinase, ATP-hydrolysing [Gene - OMIM - HGNC]
  • LOC130001258:ATAC-STARR-seq lymphoblastoid active region 28027 [Gene]
  • LOC130001259:ATAC-STARR-seq lymphoblastoid active region 28028 [Gene]
  • LOC130001261:ATAC-STARR-seq lymphoblastoid active region 28029 [Gene]
  • LOC130001262:ATAC-STARR-seq lymphoblastoid active region 28030 [Gene]
  • LOC130001263:ATAC-STARR-seq lymphoblastoid active region 28031 [Gene]
  • LOC130001264:ATAC-STARR-seq lymphoblastoid active region 28032 [Gene]
  • LOC130001265:ATAC-STARR-seq lymphoblastoid active region 28034 [Gene]
  • LOC130001266:ATAC-STARR-seq lymphoblastoid active region 28036 [Gene]
  • LOC130001267:ATAC-STARR-seq lymphoblastoid active region 28037 [Gene]
  • LOC130001270:ATAC-STARR-seq lymphoblastoid active region 28038 [Gene]
  • LOC130001276:ATAC-STARR-seq lymphoblastoid active region 28039 [Gene]
  • LOC130001277:ATAC-STARR-seq lymphoblastoid active region 28040 [Gene]
  • LOC130001278:ATAC-STARR-seq lymphoblastoid active region 28041 [Gene]
  • LOC130001279:ATAC-STARR-seq lymphoblastoid active region 28042 [Gene]
  • LOC130001280:ATAC-STARR-seq lymphoblastoid active region 28043 [Gene]
  • LOC130001281:ATAC-STARR-seq lymphoblastoid active region 28044 [Gene]
  • LOC130001282:ATAC-STARR-seq lymphoblastoid active region 28045 [Gene]
  • LOC130001283:ATAC-STARR-seq lymphoblastoid active region 28046 [Gene]
  • LOC130001284:ATAC-STARR-seq lymphoblastoid active region 28047 [Gene]
  • LOC130001285:ATAC-STARR-seq lymphoblastoid active region 28048 [Gene]
  • LOC130001286:ATAC-STARR-seq lymphoblastoid active region 28049 [Gene]
  • LOC130001287:ATAC-STARR-seq lymphoblastoid active region 28050 [Gene]
  • LOC130001288:ATAC-STARR-seq lymphoblastoid active region 28051 [Gene]
  • LOC130001290:ATAC-STARR-seq lymphoblastoid active region 28052 [Gene]
  • LOC130001294:ATAC-STARR-seq lymphoblastoid active region 28055 [Gene]
  • LOC130001295:ATAC-STARR-seq lymphoblastoid active region 28056 [Gene]
  • LOC130001296:ATAC-STARR-seq lymphoblastoid active region 28057 [Gene]
  • LOC130001297:ATAC-STARR-seq lymphoblastoid active region 28058 [Gene]
  • LOC130001298:ATAC-STARR-seq lymphoblastoid active region 28059 [Gene]
  • LOC130001299:ATAC-STARR-seq lymphoblastoid active region 28060 [Gene]
  • LOC130001300:ATAC-STARR-seq lymphoblastoid active region 28061 [Gene]
  • LOC130001301:ATAC-STARR-seq lymphoblastoid active region 28062 [Gene]
  • LOC130001309:ATAC-STARR-seq lymphoblastoid active region 28065 [Gene]
  • LOC130001311:ATAC-STARR-seq lymphoblastoid active region 28066 [Gene]
  • LOC130001322:ATAC-STARR-seq lymphoblastoid active region 28067 [Gene]
  • LOC130001323:ATAC-STARR-seq lymphoblastoid active region 28068 [Gene]
  • LOC130001326:ATAC-STARR-seq lymphoblastoid active region 28070 [Gene]
  • LOC130001329:ATAC-STARR-seq lymphoblastoid active region 28071 [Gene]
  • LOC130001332:ATAC-STARR-seq lymphoblastoid active region 28075 [Gene]
  • LOC130001333:ATAC-STARR-seq lymphoblastoid active region 28076 [Gene]
  • LOC130001336:ATAC-STARR-seq lymphoblastoid active region 28077 [Gene]
  • LOC130001338:ATAC-STARR-seq lymphoblastoid active region 28078 [Gene]
  • LOC130001340:ATAC-STARR-seq lymphoblastoid active region 28079 [Gene]
  • LOC130001343:ATAC-STARR-seq lymphoblastoid active region 28080 [Gene]
  • LOC130001346:ATAC-STARR-seq lymphoblastoid active region 28081 [Gene]
  • LOC130001355:ATAC-STARR-seq lymphoblastoid active region 28082 [Gene]
  • LOC130001356:ATAC-STARR-seq lymphoblastoid active region 28083 [Gene]
  • LOC130001359:ATAC-STARR-seq lymphoblastoid active region 28085 [Gene]
  • LOC130001362:ATAC-STARR-seq lymphoblastoid active region 28086 [Gene]
  • LOC130001363:ATAC-STARR-seq lymphoblastoid active region 28087 [Gene]
  • LOC130001365:ATAC-STARR-seq lymphoblastoid active region 28088 [Gene]
  • LOC130001368:ATAC-STARR-seq lymphoblastoid active region 28089 [Gene]
  • LOC130001369:ATAC-STARR-seq lymphoblastoid active region 28090 [Gene]
  • LOC130001382:ATAC-STARR-seq lymphoblastoid active region 28092 [Gene]
  • LOC130001383:ATAC-STARR-seq lymphoblastoid active region 28093 [Gene]
  • LOC130001384:ATAC-STARR-seq lymphoblastoid active region 28094 [Gene]
  • LOC130001391:ATAC-STARR-seq lymphoblastoid active region 28096 [Gene]
  • LOC130001394:ATAC-STARR-seq lymphoblastoid active region 28097 [Gene]
  • LOC130001397:ATAC-STARR-seq lymphoblastoid active region 28098 [Gene]
  • LOC130001408:ATAC-STARR-seq lymphoblastoid active region 28100 [Gene]
  • LOC130001409:ATAC-STARR-seq lymphoblastoid active region 28101 [Gene]
  • LOC130001417:ATAC-STARR-seq lymphoblastoid active region 28102 [Gene]
  • LOC130001418:ATAC-STARR-seq lymphoblastoid active region 28103 [Gene]
  • LOC130001423:ATAC-STARR-seq lymphoblastoid active region 28105 [Gene]
  • LOC130001425:ATAC-STARR-seq lymphoblastoid active region 28107 [Gene]
  • LOC130001426:ATAC-STARR-seq lymphoblastoid active region 28108 [Gene]
  • LOC130001427:ATAC-STARR-seq lymphoblastoid active region 28109 [Gene]
  • LOC130001429:ATAC-STARR-seq lymphoblastoid active region 28110 [Gene]
  • LOC130001430:ATAC-STARR-seq lymphoblastoid active region 28112 [Gene]
  • LOC130001431:ATAC-STARR-seq lymphoblastoid active region 28113 [Gene]
  • LOC130001252:ATAC-STARR-seq lymphoblastoid silent region 19572 [Gene]
  • LOC130001253:ATAC-STARR-seq lymphoblastoid silent region 19573 [Gene]
  • LOC130001254:ATAC-STARR-seq lymphoblastoid silent region 19574 [Gene]
  • LOC130001255:ATAC-STARR-seq lymphoblastoid silent region 19575 [Gene]
  • LOC130001256:ATAC-STARR-seq lymphoblastoid silent region 19576 [Gene]
  • LOC130001257:ATAC-STARR-seq lymphoblastoid silent region 19579 [Gene]
  • LOC130001260:ATAC-STARR-seq lymphoblastoid silent region 19580 [Gene]
  • LOC130001268:ATAC-STARR-seq lymphoblastoid silent region 19582 [Gene]
  • LOC130001269:ATAC-STARR-seq lymphoblastoid silent region 19583 [Gene]
  • LOC130001271:ATAC-STARR-seq lymphoblastoid silent region 19584 [Gene]
  • LOC130001272:ATAC-STARR-seq lymphoblastoid silent region 19585 [Gene]
  • LOC130001273:ATAC-STARR-seq lymphoblastoid silent region 19586 [Gene]
  • LOC130001274:ATAC-STARR-seq lymphoblastoid silent region 19587 [Gene]
  • LOC130001275:ATAC-STARR-seq lymphoblastoid silent region 19588 [Gene]
  • LOC130001289:ATAC-STARR-seq lymphoblastoid silent region 19590 [Gene]
  • LOC130001291:ATAC-STARR-seq lymphoblastoid silent region 19591 [Gene]
  • LOC130001292:ATAC-STARR-seq lymphoblastoid silent region 19592 [Gene]
  • LOC130001293:ATAC-STARR-seq lymphoblastoid silent region 19593 [Gene]
  • LOC130001302:ATAC-STARR-seq lymphoblastoid silent region 19594 [Gene]
  • LOC130001303:ATAC-STARR-seq lymphoblastoid silent region 19597 [Gene]
  • LOC130001304:ATAC-STARR-seq lymphoblastoid silent region 19598 [Gene]
  • LOC130001305:ATAC-STARR-seq lymphoblastoid silent region 19599 [Gene]
  • LOC130001306:ATAC-STARR-seq lymphoblastoid silent region 19600 [Gene]
  • LOC130001307:ATAC-STARR-seq lymphoblastoid silent region 19601 [Gene]
  • LOC130001308:ATAC-STARR-seq lymphoblastoid silent region 19602 [Gene]
  • LOC130001310:ATAC-STARR-seq lymphoblastoid silent region 19603 [Gene]
  • LOC130001312:ATAC-STARR-seq lymphoblastoid silent region 19604 [Gene]
  • LOC130001313:ATAC-STARR-seq lymphoblastoid silent region 19605 [Gene]
  • LOC130001314:ATAC-STARR-seq lymphoblastoid silent region 19606 [Gene]
  • LOC130001315:ATAC-STARR-seq lymphoblastoid silent region 19607 [Gene]
  • LOC130001316:ATAC-STARR-seq lymphoblastoid silent region 19608 [Gene]
  • LOC130001317:ATAC-STARR-seq lymphoblastoid silent region 19610 [Gene]
  • LOC130001318:ATAC-STARR-seq lymphoblastoid silent region 19611 [Gene]
  • LOC130001319:ATAC-STARR-seq lymphoblastoid silent region 19612 [Gene]
  • LOC130001320:ATAC-STARR-seq lymphoblastoid silent region 19613 [Gene]
  • LOC130001321:ATAC-STARR-seq lymphoblastoid silent region 19614 [Gene]
  • LOC130001324:ATAC-STARR-seq lymphoblastoid silent region 19617 [Gene]
  • LOC130001325:ATAC-STARR-seq lymphoblastoid silent region 19618 [Gene]
  • LOC130001327:ATAC-STARR-seq lymphoblastoid silent region 19620 [Gene]
  • LOC130001328:ATAC-STARR-seq lymphoblastoid silent region 19621 [Gene]
  • LOC130001330:ATAC-STARR-seq lymphoblastoid silent region 19622 [Gene]
  • LOC130001331:ATAC-STARR-seq lymphoblastoid silent region 19626 [Gene]
  • LOC130001334:ATAC-STARR-seq lymphoblastoid silent region 19628 [Gene]
  • LOC130001335:ATAC-STARR-seq lymphoblastoid silent region 19629 [Gene]
  • LOC130001337:ATAC-STARR-seq lymphoblastoid silent region 19630 [Gene]
  • LOC130001339:ATAC-STARR-seq lymphoblastoid silent region 19631 [Gene]
  • LOC130001341:ATAC-STARR-seq lymphoblastoid silent region 19632 [Gene]
  • LOC130001342:ATAC-STARR-seq lymphoblastoid silent region 19633 [Gene]
  • LOC130001344:ATAC-STARR-seq lymphoblastoid silent region 19634 [Gene]
  • LOC130001345:ATAC-STARR-seq lymphoblastoid silent region 19635 [Gene]
  • LOC130001347:ATAC-STARR-seq lymphoblastoid silent region 19636 [Gene]
  • LOC130001348:ATAC-STARR-seq lymphoblastoid silent region 19637 [Gene]
  • LOC130001349:ATAC-STARR-seq lymphoblastoid silent region 19638 [Gene]
  • LOC130001350:ATAC-STARR-seq lymphoblastoid silent region 19639 [Gene]
  • LOC130001351:ATAC-STARR-seq lymphoblastoid silent region 19641 [Gene]
  • LOC130001352:ATAC-STARR-seq lymphoblastoid silent region 19642 [Gene]
  • LOC130001353:ATAC-STARR-seq lymphoblastoid silent region 19643 [Gene]
  • LOC130001354:ATAC-STARR-seq lymphoblastoid silent region 19646 [Gene]
  • LOC130001357:ATAC-STARR-seq lymphoblastoid silent region 19647 [Gene]
  • LOC130001358:ATAC-STARR-seq lymphoblastoid silent region 19648 [Gene]
  • LOC130001360:ATAC-STARR-seq lymphoblastoid silent region 19651 [Gene]
  • LOC130001361:ATAC-STARR-seq lymphoblastoid silent region 19652 [Gene]
  • LOC130001364:ATAC-STARR-seq lymphoblastoid silent region 19654 [Gene]
  • LOC130001366:ATAC-STARR-seq lymphoblastoid silent region 19656 [Gene]
  • LOC130001367:ATAC-STARR-seq lymphoblastoid silent region 19657 [Gene]
  • LOC130001370:ATAC-STARR-seq lymphoblastoid silent region 19659 [Gene]
  • LOC130001371:ATAC-STARR-seq lymphoblastoid silent region 19660 [Gene]
  • LOC130001372:ATAC-STARR-seq lymphoblastoid silent region 19661 [Gene]
  • LOC130001373:ATAC-STARR-seq lymphoblastoid silent region 19662 [Gene]
  • LOC130001374:ATAC-STARR-seq lymphoblastoid silent region 19663 [Gene]
  • LOC130001375:ATAC-STARR-seq lymphoblastoid silent region 19664 [Gene]
  • LOC130001376:ATAC-STARR-seq lymphoblastoid silent region 19665 [Gene]
  • LOC130001377:ATAC-STARR-seq lymphoblastoid silent region 19666 [Gene]
  • LOC130001378:ATAC-STARR-seq lymphoblastoid silent region 19668 [Gene]
  • LOC130001379:ATAC-STARR-seq lymphoblastoid silent region 19669 [Gene]
  • LOC130001380:ATAC-STARR-seq lymphoblastoid silent region 19670 [Gene]
  • LOC130001381:ATAC-STARR-seq lymphoblastoid silent region 19671 [Gene]
  • LOC130001385:ATAC-STARR-seq lymphoblastoid silent region 19672 [Gene]
  • LOC130001386:ATAC-STARR-seq lymphoblastoid silent region 19673 [Gene]
  • LOC130001387:ATAC-STARR-seq lymphoblastoid silent region 19675 [Gene]
  • LOC130001388:ATAC-STARR-seq lymphoblastoid silent region 19676 [Gene]
  • LOC130001389:ATAC-STARR-seq lymphoblastoid silent region 19677 [Gene]
  • LOC130001390:ATAC-STARR-seq lymphoblastoid silent region 19678 [Gene]
  • LOC130001392:ATAC-STARR-seq lymphoblastoid silent region 19679 [Gene]
  • LOC130001393:ATAC-STARR-seq lymphoblastoid silent region 19680 [Gene]
  • LOC130001395:ATAC-STARR-seq lymphoblastoid silent region 19681 [Gene]
  • LOC130001396:ATAC-STARR-seq lymphoblastoid silent region 19682 [Gene]
  • LOC130001398:ATAC-STARR-seq lymphoblastoid silent region 19684 [Gene]
  • LOC130001399:ATAC-STARR-seq lymphoblastoid silent region 19685 [Gene]
  • LOC130001400:ATAC-STARR-seq lymphoblastoid silent region 19686 [Gene]
  • LOC130001401:ATAC-STARR-seq lymphoblastoid silent region 19689 [Gene]
  • LOC130001402:ATAC-STARR-seq lymphoblastoid silent region 19690 [Gene]
  • LOC130001403:ATAC-STARR-seq lymphoblastoid silent region 19691 [Gene]
  • LOC130001404:ATAC-STARR-seq lymphoblastoid silent region 19692 [Gene]
  • LOC130001405:ATAC-STARR-seq lymphoblastoid silent region 19695 [Gene]
  • LOC130001406:ATAC-STARR-seq lymphoblastoid silent region 19696 [Gene]
  • LOC130001407:ATAC-STARR-seq lymphoblastoid silent region 19697 [Gene]
  • LOC130001410:ATAC-STARR-seq lymphoblastoid silent region 19698 [Gene]
  • LOC130001411:ATAC-STARR-seq lymphoblastoid silent region 19699 [Gene]
  • LOC130001412:ATAC-STARR-seq lymphoblastoid silent region 19700 [Gene]
  • LOC130001413:ATAC-STARR-seq lymphoblastoid silent region 19702 [Gene]
  • LOC130001414:ATAC-STARR-seq lymphoblastoid silent region 19706 [Gene]
  • LOC130001415:ATAC-STARR-seq lymphoblastoid silent region 19707 [Gene]
  • LOC130001416:ATAC-STARR-seq lymphoblastoid silent region 19708 [Gene]
  • LOC130001419:ATAC-STARR-seq lymphoblastoid silent region 19709 [Gene]
  • LOC130001420:ATAC-STARR-seq lymphoblastoid silent region 19710 [Gene]
  • LOC130001421:ATAC-STARR-seq lymphoblastoid silent region 19711 [Gene]
  • LOC130001422:ATAC-STARR-seq lymphoblastoid silent region 19712 [Gene]
  • LOC130001424:ATAC-STARR-seq lymphoblastoid silent region 19714 [Gene]
  • LOC130001428:ATAC-STARR-seq lymphoblastoid silent region 19717 [Gene]
  • LOC130001432:ATAC-STARR-seq lymphoblastoid silent region 19718 [Gene]
  • BOP1:BOP1 ribosomal biogenesis factor [Gene - OMIM - HGNC]
  • LOC126860543:BRD4-independent group 4 enhancer GRCh37_chr8:141474198-141475397 [Gene]
  • LOC126860547:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:142745139-142746338 [Gene]
  • LOC110599578:CEB42 minisatellite repeat instability region [Gene]
  • COMMD5:COMM domain containing 5 [Gene - OMIM - HGNC]
  • LOC110673972:CYP11B1 promoter [Gene]
  • LOC106799833:CYP11B1 recombination region [Gene]
  • LOC110673971:CYP11B2 promoter [Gene]
  • LOC106799834:CYP11B2 recombination region [Gene]
  • DENND3:DENN domain containing 3 [Gene - OMIM - HGNC]
  • DENND3-AS1:DENND3 antisense RNA 1 [Gene - HGNC]
  • TOP1MT:DNA topoisomerase I mitochondrial [Gene - OMIM - HGNC]
  • ERICD:E2F1-regulated inhibitor of cell death [Gene - HGNC]
  • FBXL6:F-box and leucine rich repeat protein 6 [Gene - OMIM - HGNC]
  • GPR20:G protein-coupled receptor 20 [Gene - OMIM - HGNC]
  • GFUS:GDP-L-fucose synthase [Gene - OMIM - HGNC]
  • GLI4:GLI family zinc finger 4 [Gene - OMIM - HGNC]
  • HGH1:HGH1 homolog [Gene - OMIM - HGNC]
  • IQANK1:IQ motif and ankyrin repeat containing 1 [Gene - OMIM - HGNC]
  • JRK:Jrk helix-turn-helix protein [Gene - OMIM - HGNC]
  • LYPD2:LY6/PLAUR domain containing 2 [Gene - HGNC]
  • LY6E-DT:LY6E divergent transcript [Gene - HGNC]
  • LY6S-AS1:LY6S antisense RNA 1 [Gene - HGNC]
  • LYNX1-SLURP2:LYNX1-SLURP2 readthrough [Gene - HGNC]
  • LYNX1:Ly6/neurotoxin 1 [Gene - OMIM - HGNC]
  • MAFA:MAF bZIP transcription factor A [Gene - OMIM - HGNC]
  • MAF1:MAF1 homolog, negative regulator of RNA polymerase III [Gene - OMIM - HGNC]
  • MAFA-AS1:MAFA antisense RNA 1 [Gene - HGNC]
  • LOC126860544:MED14-independent group 3 enhancer GRCh37_chr8:141567119-141568318 [Gene]
  • LOC126860545:MED14-independent group 3 enhancer GRCh37_chr8:141569579-141570778 [Gene]
  • LOC126860548:MED14-independent group 3 enhancer GRCh37_chr8:143896321-143897520 [Gene]
  • LOC126860549:MED14-independent group 3 enhancer GRCh37_chr8:144911577-144912776 [Gene]
  • LOC126860550:MED14-independent group 3 enhancer GRCh37_chr8:145795054-145796253 [Gene]
  • LOC126860551:MED14-independent group 3 enhancer GRCh37_chr8:145926819-145928018 [Gene]
  • LOC129390057:MPRA-validated peak7187 silencer [Gene]
  • LOC129390058:MPRA-validated peak7188 silencer [Gene]
  • LOC129390059:MPRA-validated peak7190 silencer [Gene]
  • LOC129390060:MPRA-validated peak7195 silencer [Gene]
  • MINCR:MYC-induced long non-coding RNA [Gene - HGNC]
  • LOC126860541:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:140906595-140907794 [Gene]
  • LOC126860542:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:141319328-141320527 [Gene]
  • LOC126860546:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:141655407-141656606 [Gene]
  • LOC107983985:Putative chemokine-related protein FP248 [Gene]
  • RHPN1-AS1:RHPN1 antisense RNA 1 (head to head) [Gene - HGNC]
  • RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
  • ARHGAP39:Rho GTPase activating protein 39 [Gene - OMIM - HGNC]
  • SHARPIN:SHANK associated RH domain interactor [Gene - OMIM - HGNC]
  • SLC45A4-AS1:SLC45A4 antisense RNA 1 [Gene - HGNC]
  • LOC124188251:Sharpr-MPRA regulatory region 10254 [Gene]
  • LOC113788262:Sharpr-MPRA regulatory region 10587 [Gene]
  • LOC113788265:Sharpr-MPRA regulatory region 10662 [Gene]
  • LOC121740734:Sharpr-MPRA regulatory region 11049 [Gene]
  • LOC113788263:Sharpr-MPRA regulatory region 11335 [Gene]
  • LOC113788264:Sharpr-MPRA regulatory region 1162 [Gene]
  • LOC124188246:Sharpr-MPRA regulatory region 11851 [Gene]
  • LOC124188250:Sharpr-MPRA regulatory region 11949 [Gene]
  • LOC121740736:Sharpr-MPRA regulatory region 12231 [Gene]
  • LOC121740735:Sharpr-MPRA regulatory region 12380 [Gene]
  • LOC124188243:Sharpr-MPRA regulatory region 12881 [Gene]
  • LOC124188244:Sharpr-MPRA regulatory region 1454 [Gene]
  • LOC114004411:Sharpr-MPRA regulatory region 15097 [Gene]
  • LOC124188241:Sharpr-MPRA regulatory region 1764 [Gene]
  • LOC114004412:Sharpr-MPRA regulatory region 1869 [Gene]
  • LOC124188249:Sharpr-MPRA regulatory region 2015 [Gene]
  • LOC113788267:Sharpr-MPRA regulatory region 2030 [Gene]
  • LOC124188239:Sharpr-MPRA regulatory region 3867 [Gene]
  • LOC124188248:Sharpr-MPRA regulatory region 3935 [Gene]
  • LOC113788266:Sharpr-MPRA regulatory region 4007 [Gene]
  • LOC121331315:Sharpr-MPRA regulatory region 4846 [Gene]
  • LOC124188247:Sharpr-MPRA regulatory region 5026 [Gene]
  • LOC121331313:Sharpr-MPRA regulatory region 5092 [Gene]
  • LOC124188242:Sharpr-MPRA regulatory region 5779 [Gene]
  • LOC124188245:Sharpr-MPRA regulatory region 5782 [Gene]
  • LOC121331314:Sharpr-MPRA regulatory region 8265 [Gene]
  • LOC124188240:Sharpr-MPRA regulatory region 8823 [Gene]
  • LOC113788261:Sharpr-MPRA regulatory region 993 [Gene]
  • TMEM276-ZFTRAF1:TMEM276-ZFTRAF1 readthrough [Gene - HGNC]
  • TONSL-AS1:TONSL antisense RNA 1 [Gene - HGNC]
  • LOC110121218:VISTA enhancer hs1882 [Gene]
  • VPS28:VPS28 subunit of ESCRT-I [Gene - OMIM - HGNC]
  • WDR97:WD repeat domain 97 [Gene - HGNC]
  • ZFP41:ZFP41 zinc finger protein [Gene - HGNC]
  • ZNF252P-AS1:ZNF252P antisense RNA 1 [Gene - HGNC]
  • ADCK5:aarF domain containing kinase 5 [Gene - HGNC]
  • ARC:activity regulated cytoskeleton associated protein [Gene - OMIM - HGNC]
  • ADGRB1:adhesion G protein-coupled receptor B1 [Gene - OMIM - HGNC]
  • ASTILCS:antisense transcript of PTP4A3, liver carcinoma survival associated [Gene - HGNC]
  • AGO2:argonaute RISC catalytic component 2 [Gene - OMIM - HGNC]
  • CHRAC1:chromatin accessibility complex subunit 1 [Gene - OMIM - HGNC]
  • C8orf33:chromosome 8 open reading frame 33 [Gene - HGNC]
  • C8orf82:chromosome 8 open reading frame 82 [Gene - HGNC]
  • C8orf90:chromosome 8 open reading frame 90 [Gene - HGNC]
  • C8orf17:chromosome 8 putative open reading frame 17 [Gene - OMIM - HGNC]
  • CPSF1:cleavage and polyadenylation specific factor 1 [Gene - OMIM - HGNC]
  • CCDC166:coiled-coil domain containing 166 [Gene - HGNC]
  • CYP11B1:cytochrome P450 family 11 subfamily B member 1 [Gene - OMIM - HGNC]
  • CYP11B2:cytochrome P450 family 11 subfamily B member 2 [Gene - OMIM - HGNC]
  • CYC1:cytochrome c1 [Gene - OMIM - HGNC]
  • DGAT1:diacylglycerol O-acyltransferase 1 [Gene - OMIM - HGNC]
  • EPPK1:epiplakin 1 [Gene - OMIM - HGNC]
  • EEF1D:eukaryotic translation elongation factor 1 delta [Gene - OMIM - HGNC]
  • EXOSC4:exosome component 4 [Gene - OMIM - HGNC]
  • FAM83H:family with sequence similarity 83 member H [Gene - OMIM - HGNC]
  • FOXH1:forkhead box H1 [Gene - OMIM - HGNC]
  • GSDMD:gasdermin D [Gene - OMIM - HGNC]
  • GRINA:glutamate ionotropic receptor NMDA type subunit associated protein 1 [Gene - OMIM - HGNC]
  • GPT:glutamic--pyruvic transaminase [Gene - OMIM - HGNC]
  • GPAA1:glycosylphosphatidylinositol anchor attachment 1 [Gene - OMIM - HGNC]
  • GPIHBP1:glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 [Gene - OMIM - HGNC]
  • GML:glycosylphosphatidylinositol anchored molecule like [Gene - OMIM - HGNC]
  • HSF1:heat shock transcription factor 1 [Gene - OMIM - HGNC]
  • KIFC2:kinesin family member C2 [Gene - OMIM - HGNC]
  • LRRC14:leucine rich repeat containing 14 [Gene - OMIM - HGNC]
  • LRRC24:leucine rich repeat containing 24 [Gene - OMIM - HGNC]
  • LNCOC1:lncRNA associated with ovarian cancer 1 [Gene - HGNC]
  • LINC01300:long intergenic non-protein coding RNA 1300 [Gene - HGNC]
  • LINC02878:long intergenic non-protein coding RNA 2878 [Gene - HGNC]
  • LINC00051:long intergenic non-protein coding RNA 51 [Gene - HGNC]
  • LY6D:lymphocyte antigen 6 family member D [Gene - OMIM - HGNC]
  • LY6E:lymphocyte antigen 6 family member E [Gene - OMIM - HGNC]
  • LY6H:lymphocyte antigen 6 family member H [Gene - OMIM - HGNC]
  • LY6K:lymphocyte antigen 6 family member K [Gene - OMIM - HGNC]
  • LY6L:lymphocyte antigen 6 family member L [Gene - HGNC]
  • LY6S:lymphocyte antigen 6 family member S [Gene - HGNC]
  • MROH1:maestro heat like repeat family member 1 [Gene - HGNC]
  • MROH5:maestro heat like repeat family member 5 (gene/pseudogene) [Gene - HGNC]
  • MROH6:maestro heat like repeat family member 6 [Gene - HGNC]
  • MFSD3:major facilitator superfamily domain containing 3 [Gene - OMIM - HGNC]
  • MIR10400:microRNA 10400 [Gene - HGNC]
  • MIR1234:microRNA 1234 [Gene - HGNC]
  • MIR1302-7:microRNA 1302-7 [Gene - HGNC]
  • MIR151A:microRNA 151a [Gene - OMIM - HGNC]
  • MIR4472-1:microRNA 4472-1 [Gene - HGNC]
  • MIR4664:microRNA 4664 [Gene - HGNC]
  • MIR661:microRNA 661 [Gene - OMIM - HGNC]
  • MIR6845:microRNA 6845 [Gene - HGNC]
  • MIR6846:microRNA 6846 [Gene - HGNC]
  • MIR6847:microRNA 6847 [Gene - HGNC]
  • MIR6848:microRNA 6848 [Gene - HGNC]
  • MIR6849:microRNA 6849 [Gene - HGNC]
  • MIR6850:microRNA 6850 [Gene - HGNC]
  • MIR6893:microRNA 6893 [Gene - HGNC]
  • MIR7112:microRNA 7112 [Gene - HGNC]
  • MIR937:microRNA 937 [Gene - HGNC]
  • MIR939:microRNA 939 [Gene - HGNC]
  • MAPK15:mitogen-activated protein kinase 15 [Gene - OMIM - HGNC]
  • NAPRT:nicotinate phosphoribosyltransferase [Gene - OMIM - HGNC]
  • NRBP2:nuclear receptor binding protein 2 [Gene - OMIM - HGNC]
  • PEG13:paternally expressed 13 [Gene - HGNC]
  • PLEC:plectin [Gene - OMIM - HGNC]
  • PARP10:poly(ADP-ribose) polymerase family member 10 [Gene - OMIM - HGNC]
  • PUF60:poly(U) binding splicing factor 60 [Gene - OMIM - HGNC]
  • KCNK9:potassium two pore domain channel subfamily K member 9 [Gene - OMIM - HGNC]
  • PSCA:prostate stem cell antigen [Gene - OMIM - HGNC]
  • PPP1R16A:protein phosphatase 1 regulatory subunit 16A [Gene - OMIM - HGNC]
  • PTK2:protein tyrosine kinase 2 [Gene - OMIM - HGNC]
  • PTP4A3:protein tyrosine phosphatase 4A3 [Gene - OMIM - HGNC]
  • PYCR3:pyrroline-5-carboxylate reductase 3 [Gene - OMIM - HGNC]
  • RHPN1:rhophilin Rho GTPase binding protein 1 [Gene - OMIM - HGNC]
  • RPL8:ribosomal protein L8 [Gene - OMIM - HGNC]
  • SCX:scleraxis bHLH transcription factor [Gene - OMIM - HGNC]
  • SCRT1:scratch family transcriptional repressor 1 [Gene - OMIM - HGNC]
  • SCRIB:scribble planar cell polarity protein [Gene - OMIM - HGNC]
  • SLURP1:secreted LY6/PLAUR domain containing 1 [Gene - OMIM - HGNC]
  • SLURP2:secreted LY6/PLAUR domain containing 2 [Gene - HGNC]
  • SNORD149:small nucleolar RNA, C/D box 149 [Gene - HGNC]
  • SLC39A4:solute carrier family 39 member 4 [Gene - OMIM - HGNC]
  • SLC45A4:solute carrier family 45 member 4 [Gene - OMIM - HGNC]
  • SLC52A2:solute carrier family 52 member 2 [Gene - OMIM - HGNC]
  • SPATC1:spermatogenesis and centriole associated 1 [Gene - OMIM - HGNC]
  • TSNARE1:t-SNARE domain containing 1 [Gene - HGNC]
  • THEM6:thioesterase superfamily member 6 [Gene - HGNC]
  • TIGD5:tigger transposable element derived 5 [Gene - HGNC]
  • TONSL:tonsoku like, DNA repair protein [Gene - OMIM - HGNC]
  • TRAPPC9:trafficking protein particle complex subunit 9 [Gene - OMIM - HGNC]
  • TMEM249:transmembrane protein 249 [Gene - HGNC]
  • TMEM276:transmembrane protein 276 [Gene - HGNC]
  • LOC100130027:uncharacterized LOC100130027 [Gene]
  • LOC100310756:uncharacterized LOC100310756 [Gene]
  • LOC101928087:uncharacterized LOC101928087 [Gene]
  • LOC101928160:uncharacterized LOC101928160 [Gene]
  • LOC101928902:uncharacterized LOC101928902 [Gene]
  • LOC105375781:uncharacterized LOC105375781 [Gene]
  • LOC105375798:uncharacterized LOC105375798 [Gene]
  • ZC3H3:zinc finger CCCH-type containing 3 [Gene - OMIM - HGNC]
  • ZFTRAF1:zinc finger TRAF-type containing 1 [Gene - OMIM - HGNC]
  • ZNF16:zinc finger protein 16 [Gene - OMIM - HGNC]
  • ZNF250:zinc finger protein 250 [Gene - HGNC]
  • ZNF251:zinc finger protein 251 [Gene - HGNC]
  • ZNF34:zinc finger protein 34 [Gene - OMIM - HGNC]
  • ZNF517:zinc finger protein 517 [Gene - HGNC]
  • ZNF623:zinc finger protein 623 [Gene - HGNC]
  • ZNF696:zinc finger protein 696 [Gene - HGNC]
  • ZNF707:zinc finger protein 707 [Gene - HGNC]
  • ZNF7:zinc finger protein 7 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3
HGVS:
  • NC_000008.11:g.(?_139236824)_(145068712_?)dup
  • NC_000008.10:g.(?_140249067)_(146294098_?)dup
  • NC_000008.9:g.(?_140318249)_(146264902_?)dup
Links:
dbVar: nssv1415323; dbVar: nsv817397
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
SCV000177690ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Oct 10, 2011) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humanpaternalyes1not 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, SCV000177690.4

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

Last Updated: May 7, 2024