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GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 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:
RCV000136680.6

Allele description [Variation Report for GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3]

GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3

Genes:
  • HACD4:3-hydroxyacyl-CoA dehydratase 4 [Gene - OMIM - HGNC]
  • ADAMTSL1:ADAMTS like 1 [Gene - OMIM - HGNC]
  • LOC130001487:ATAC-STARR-seq lymphoblastoid active region 28148 [Gene]
  • LOC130001490:ATAC-STARR-seq lymphoblastoid active region 28149 [Gene]
  • LOC130001492:ATAC-STARR-seq lymphoblastoid active region 28150 [Gene]
  • LOC130001493:ATAC-STARR-seq lymphoblastoid active region 28152 [Gene]
  • LOC130001494:ATAC-STARR-seq lymphoblastoid active region 28153 [Gene]
  • LOC130001495:ATAC-STARR-seq lymphoblastoid active region 28154 [Gene]
  • LOC130001498:ATAC-STARR-seq lymphoblastoid active region 28156 [Gene]
  • LOC130001499:ATAC-STARR-seq lymphoblastoid active region 28157 [Gene]
  • LOC130001500:ATAC-STARR-seq lymphoblastoid active region 28159 [Gene]
  • LOC130001501:ATAC-STARR-seq lymphoblastoid active region 28160 [Gene]
  • LOC130001502:ATAC-STARR-seq lymphoblastoid active region 28161 [Gene]
  • LOC130001503:ATAC-STARR-seq lymphoblastoid active region 28163 [Gene]
  • LOC130001504:ATAC-STARR-seq lymphoblastoid active region 28164 [Gene]
  • LOC130001505:ATAC-STARR-seq lymphoblastoid active region 28165 [Gene]
  • LOC130001506:ATAC-STARR-seq lymphoblastoid active region 28167 [Gene]
  • LOC130001507:ATAC-STARR-seq lymphoblastoid active region 28168 [Gene]
  • LOC130001508:ATAC-STARR-seq lymphoblastoid active region 28169 [Gene]
  • LOC130001509:ATAC-STARR-seq lymphoblastoid active region 28170 [Gene]
  • LOC130001511:ATAC-STARR-seq lymphoblastoid active region 28171 [Gene]
  • LOC130001512:ATAC-STARR-seq lymphoblastoid active region 28172 [Gene]
  • LOC130001513:ATAC-STARR-seq lymphoblastoid active region 28173 [Gene]
  • LOC130001514:ATAC-STARR-seq lymphoblastoid active region 28174 [Gene]
  • LOC130001515:ATAC-STARR-seq lymphoblastoid active region 28175 [Gene]
  • LOC130001517:ATAC-STARR-seq lymphoblastoid active region 28176 [Gene]
  • LOC130001520:ATAC-STARR-seq lymphoblastoid active region 28177 [Gene]
  • LOC130001521:ATAC-STARR-seq lymphoblastoid active region 28178 [Gene]
  • LOC130001522:ATAC-STARR-seq lymphoblastoid active region 28179 [Gene]
  • LOC130001525:ATAC-STARR-seq lymphoblastoid active region 28180 [Gene]
  • LOC130001527:ATAC-STARR-seq lymphoblastoid active region 28181 [Gene]
  • LOC130001529:ATAC-STARR-seq lymphoblastoid active region 28182 [Gene]
  • LOC130001530:ATAC-STARR-seq lymphoblastoid active region 28183 [Gene]
  • LOC130001531:ATAC-STARR-seq lymphoblastoid active region 28185 [Gene]
  • LOC130001536:ATAC-STARR-seq lymphoblastoid active region 28186 [Gene]
  • LOC130001537:ATAC-STARR-seq lymphoblastoid active region 28187 [Gene]
  • LOC130001538:ATAC-STARR-seq lymphoblastoid active region 28191 [Gene]
  • LOC130001540:ATAC-STARR-seq lymphoblastoid active region 28192 [Gene]
  • LOC130001541:ATAC-STARR-seq lymphoblastoid active region 28193 [Gene]
  • LOC130001542:ATAC-STARR-seq lymphoblastoid active region 28198 [Gene]
  • LOC130001543:ATAC-STARR-seq lymphoblastoid active region 28199 [Gene]
  • LOC130001544:ATAC-STARR-seq lymphoblastoid active region 28200 [Gene]
  • LOC130001545:ATAC-STARR-seq lymphoblastoid active region 28201 [Gene]
  • LOC130001546:ATAC-STARR-seq lymphoblastoid active region 28202 [Gene]
  • LOC130001547:ATAC-STARR-seq lymphoblastoid active region 28203 [Gene]
  • LOC130001548:ATAC-STARR-seq lymphoblastoid active region 28204 [Gene]
  • LOC130001549:ATAC-STARR-seq lymphoblastoid active region 28205 [Gene]
  • LOC130001550:ATAC-STARR-seq lymphoblastoid active region 28206 [Gene]
  • LOC130001553:ATAC-STARR-seq lymphoblastoid active region 28207 [Gene]
  • LOC130001554:ATAC-STARR-seq lymphoblastoid active region 28209 [Gene]
  • LOC130001556:ATAC-STARR-seq lymphoblastoid active region 28210 [Gene]
  • LOC130001557:ATAC-STARR-seq lymphoblastoid active region 28213 [Gene]
  • LOC130001564:ATAC-STARR-seq lymphoblastoid active region 28214 [Gene]
  • LOC130001566:ATAC-STARR-seq lymphoblastoid active region 28216 [Gene]
  • LOC130001567:ATAC-STARR-seq lymphoblastoid active region 28217 [Gene]
  • LOC130001568:ATAC-STARR-seq lymphoblastoid active region 28218 [Gene]
  • LOC130001569:ATAC-STARR-seq lymphoblastoid active region 28219 [Gene]
  • LOC130001570:ATAC-STARR-seq lymphoblastoid active region 28220 [Gene]
  • LOC130001572:ATAC-STARR-seq lymphoblastoid active region 28222 [Gene]
  • LOC130001574:ATAC-STARR-seq lymphoblastoid active region 28224 [Gene]
  • LOC130001575:ATAC-STARR-seq lymphoblastoid active region 28227 [Gene]
  • LOC130001576:ATAC-STARR-seq lymphoblastoid active region 28228 [Gene]
  • LOC130001579:ATAC-STARR-seq lymphoblastoid active region 28229 [Gene]
  • LOC130001584:ATAC-STARR-seq lymphoblastoid active region 28230 [Gene]
  • LOC130001587:ATAC-STARR-seq lymphoblastoid active region 28232 [Gene]
  • LOC130001588:ATAC-STARR-seq lymphoblastoid active region 28233 [Gene]
  • LOC130001589:ATAC-STARR-seq lymphoblastoid active region 28234 [Gene]
  • LOC130001590:ATAC-STARR-seq lymphoblastoid active region 28235 [Gene]
  • LOC130001591:ATAC-STARR-seq lymphoblastoid active region 28236 [Gene]
  • LOC130001592:ATAC-STARR-seq lymphoblastoid active region 28237 [Gene]
  • LOC130001593:ATAC-STARR-seq lymphoblastoid active region 28238 [Gene]
  • LOC130001595:ATAC-STARR-seq lymphoblastoid active region 28239 [Gene]
  • LOC130001596:ATAC-STARR-seq lymphoblastoid active region 28240 [Gene]
  • LOC130001600:ATAC-STARR-seq lymphoblastoid active region 28241 [Gene]
  • LOC130001601:ATAC-STARR-seq lymphoblastoid active region 28243 [Gene]
  • LOC130001605:ATAC-STARR-seq lymphoblastoid active region 28244 [Gene]
  • LOC130001609:ATAC-STARR-seq lymphoblastoid active region 28245 [Gene]
  • LOC130001610:ATAC-STARR-seq lymphoblastoid active region 28246 [Gene]
  • LOC130001613:ATAC-STARR-seq lymphoblastoid active region 28247 [Gene]
  • LOC130001614:ATAC-STARR-seq lymphoblastoid active region 28253 [Gene]
  • LOC130001618:ATAC-STARR-seq lymphoblastoid active region 28254 [Gene]
  • LOC130001484:ATAC-STARR-seq lymphoblastoid silent region 19743 [Gene]
  • LOC130001485:ATAC-STARR-seq lymphoblastoid silent region 19744 [Gene]
  • LOC130001486:ATAC-STARR-seq lymphoblastoid silent region 19745 [Gene]
  • LOC130001488:ATAC-STARR-seq lymphoblastoid silent region 19746 [Gene]
  • LOC130001489:ATAC-STARR-seq lymphoblastoid silent region 19747 [Gene]
  • LOC130001491:ATAC-STARR-seq lymphoblastoid silent region 19748 [Gene]
  • LOC130001496:ATAC-STARR-seq lymphoblastoid silent region 19749 [Gene]
  • LOC130001497:ATAC-STARR-seq lymphoblastoid silent region 19752 [Gene]
  • LOC130001510:ATAC-STARR-seq lymphoblastoid silent region 19753 [Gene]
  • LOC130001516:ATAC-STARR-seq lymphoblastoid silent region 19754 [Gene]
  • LOC130001518:ATAC-STARR-seq lymphoblastoid silent region 19755 [Gene]
  • LOC130001519:ATAC-STARR-seq lymphoblastoid silent region 19756 [Gene]
  • LOC130001523:ATAC-STARR-seq lymphoblastoid silent region 19757 [Gene]
  • LOC130001524:ATAC-STARR-seq lymphoblastoid silent region 19758 [Gene]
  • LOC130001526:ATAC-STARR-seq lymphoblastoid silent region 19759 [Gene]
  • LOC130001528:ATAC-STARR-seq lymphoblastoid silent region 19762 [Gene]
  • LOC130001532:ATAC-STARR-seq lymphoblastoid silent region 19763 [Gene]
  • LOC130001533:ATAC-STARR-seq lymphoblastoid silent region 19764 [Gene]
  • LOC130001534:ATAC-STARR-seq lymphoblastoid silent region 19765 [Gene]
  • LOC130001535:ATAC-STARR-seq lymphoblastoid silent region 19766 [Gene]
  • LOC130001539:ATAC-STARR-seq lymphoblastoid silent region 19769 [Gene]
  • LOC130001551:ATAC-STARR-seq lymphoblastoid silent region 19770 [Gene]
  • LOC130001552:ATAC-STARR-seq lymphoblastoid silent region 19771 [Gene]
  • LOC130001555:ATAC-STARR-seq lymphoblastoid silent region 19772 [Gene]
  • LOC130001558:ATAC-STARR-seq lymphoblastoid silent region 19773 [Gene]
  • LOC130001559:ATAC-STARR-seq lymphoblastoid silent region 19774 [Gene]
  • LOC130001560:ATAC-STARR-seq lymphoblastoid silent region 19775 [Gene]
  • LOC130001561:ATAC-STARR-seq lymphoblastoid silent region 19776 [Gene]
  • LOC130001562:ATAC-STARR-seq lymphoblastoid silent region 19777 [Gene]
  • LOC130001563:ATAC-STARR-seq lymphoblastoid silent region 19780 [Gene]
  • LOC130001565:ATAC-STARR-seq lymphoblastoid silent region 19788 [Gene]
  • LOC130001571:ATAC-STARR-seq lymphoblastoid silent region 19791 [Gene]
  • LOC130001573:ATAC-STARR-seq lymphoblastoid silent region 19795 [Gene]
  • LOC130001577:ATAC-STARR-seq lymphoblastoid silent region 19796 [Gene]
  • LOC130001578:ATAC-STARR-seq lymphoblastoid silent region 19797 [Gene]
  • LOC130001580:ATAC-STARR-seq lymphoblastoid silent region 19798 [Gene]
  • LOC130001581:ATAC-STARR-seq lymphoblastoid silent region 19799 [Gene]
  • LOC130001582:ATAC-STARR-seq lymphoblastoid silent region 19800 [Gene]
  • LOC130001583:ATAC-STARR-seq lymphoblastoid silent region 19801 [Gene]
  • LOC130001585:ATAC-STARR-seq lymphoblastoid silent region 19803 [Gene]
  • LOC130001586:ATAC-STARR-seq lymphoblastoid silent region 19805 [Gene]
  • LOC130001594:ATAC-STARR-seq lymphoblastoid silent region 19806 [Gene]
  • LOC130001597:ATAC-STARR-seq lymphoblastoid silent region 19807 [Gene]
  • LOC130001598:ATAC-STARR-seq lymphoblastoid silent region 19808 [Gene]
  • LOC130001599:ATAC-STARR-seq lymphoblastoid silent region 19809 [Gene]
  • LOC130001602:ATAC-STARR-seq lymphoblastoid silent region 19810 [Gene]
  • LOC130001603:ATAC-STARR-seq lymphoblastoid silent region 19811 [Gene]
  • LOC130001604:ATAC-STARR-seq lymphoblastoid silent region 19812 [Gene]
  • LOC130001606:ATAC-STARR-seq lymphoblastoid silent region 19813 [Gene]
  • LOC130001607:ATAC-STARR-seq lymphoblastoid silent region 19814 [Gene]
  • LOC130001608:ATAC-STARR-seq lymphoblastoid silent region 19815 [Gene]
  • LOC130001611:ATAC-STARR-seq lymphoblastoid silent region 19816 [Gene]
  • LOC130001612:ATAC-STARR-seq lymphoblastoid silent region 19817 [Gene]
  • LOC130001615:ATAC-STARR-seq lymphoblastoid silent region 19819 [Gene]
  • LOC130001616:ATAC-STARR-seq lymphoblastoid silent region 19820 [Gene]
  • LOC130001617:ATAC-STARR-seq lymphoblastoid silent region 19821 [Gene]
  • LOC129929032:ATAC-STARR-seq lymphoblastoid silent region 19822 [Gene]
  • BNC2-AS1:BNC2 antisense RNA 1 [Gene - HGNC]
  • LOC126860581:BRD4-independent group 4 enhancer GRCh37_chr9:13791089-13792288 [Gene]
  • LOC126860588:BRD4-independent group 4 enhancer GRCh37_chr9:18769932-18771131 [Gene]
  • LOC126860589:BRD4-independent group 4 enhancer GRCh37_chr9:19379549-19380748 [Gene]
  • LOC126860590:BRD4-independent group 4 enhancer GRCh37_chr9:19446057-19447256 [Gene]
  • LOC126860596:BRD4-independent group 4 enhancer GRCh37_chr9:22102887-22104086 [Gene]
  • LOC126860599:BRD4-independent group 4 enhancer GRCh37_chr9:25247658-25248857 [Gene]
  • LOC126860576:BRD4-independent group 4 enhancer GRCh37_chr9:7712804-7714003 [Gene]
  • LOC126860577:BRD4-independent group 4 enhancer GRCh37_chr9:7756151-7757350 [Gene]
  • LOC126860579:BRD4-independent group 4 enhancer GRCh37_chr9:9998786-9999985 [Gene]
  • C9orf72:C9orf72-SMCR8 complex subunit [Gene - OMIM - HGNC]
  • CD274:CD274 molecule [Gene - OMIM - HGNC]
  • CDC37L1-DT:CDC37L1 divergent transcript [Gene - HGNC]
  • LOC126860584:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:16060174-16061373 [Gene]
  • LOC126860587:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:18071016-18072215 [Gene]
  • LOC126860593:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:21684484-21685683 [Gene]
  • LOC126860597:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:22117311-22118510 [Gene]
  • LOC126860567:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:5509079-5510278 [Gene]
  • LOC126860568:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:5762408-5763607 [Gene]
  • LOC126860570:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:6084860-6086059 [Gene]
  • CDKN2A-AS1:CDKN2A antisense RNA 1 [Gene - HGNC]
  • CDKN2B-AS1:CDKN2B antisense RNA 1 [Gene - OMIM - HGNC]
  • LOC116186936:CRISPRi-validated cis-regulatory element chr9.246 [Gene]
  • DENND4C:DENN domain containing 4C [Gene - HGNC]
  • DMRTA1:DMRT like family A1 [Gene - OMIM - HGNC]
  • ELAVL2:ELAV like RNA binding protein 2 [Gene - OMIM - HGNC]
  • FOCAD-AS1:FOCAD antisense RNA 1 [Gene - HGNC]
  • FREM1:FRAS1 related extracellular matrix 1 [Gene - OMIM - HGNC]
  • HAUS6:HAUS augmin like complex subunit 6 [Gene - OMIM - HGNC]
  • LOC111413010:HNF4 motif-containing MPRA enhancer 135 [Gene]
  • IFT74-AS1:IFT74 antisense RNA 1 [Gene - HGNC]
  • LOC107882132:INSL4 promoter region [Gene]
  • IZUMO3:IZUMO family member 3 [Gene - OMIM - HGNC]
  • JAK2:Janus kinase 2 [Gene - OMIM - HGNC]
  • LURAP1L-AS1:LURAP1L antisense RNA 1 [Gene - HGNC]
  • LOC126860585:MED14-independent group 3 enhancer GRCh37_chr9:16435259-16436458 [Gene]
  • LOC126860586:MED14-independent group 3 enhancer GRCh37_chr9:16867432-16868631 [Gene]
  • LOC126860591:MED14-independent group 3 enhancer GRCh37_chr9:19999298-20000497 [Gene]
  • LOC126860592:MED14-independent group 3 enhancer GRCh37_chr9:20276506-20277705 [Gene]
  • LOC126860595:MED14-independent group 3 enhancer GRCh37_chr9:22026023-22027222 [Gene]
  • LOC126860600:MED14-independent group 3 enhancer GRCh37_chr9:26746698-26747897 [Gene]
  • LOC126860569:MED14-independent group 3 enhancer GRCh37_chr9:5909826-5911025 [Gene]
  • LOC126860571:MED14-independent group 3 enhancer GRCh37_chr9:6086910-6088109 [Gene]
  • LOC126860575:MED14-independent group 3 enhancer GRCh37_chr9:7433352-7434551 [Gene]
  • LOC126860578:MED14-independent group 3 enhancer GRCh37_chr9:8485393-8486592 [Gene]
  • MIR31HG:MIR31 host gene [Gene - OMIM - HGNC]
  • MLLT3:MLLT3 super elongation complex subunit [Gene - OMIM - HGNC]
  • MOB3B:MOB kinase activator 3B [Gene - OMIM - HGNC]
  • LOC129390063:MPRA-validated peak7210 silencer [Gene]
  • LOC129390064:MPRA-validated peak7213 silencer [Gene]
  • LOC129390065:MPRA-validated peak7214 silencer [Gene]
  • NFIB-AS1:NFIB antisense RNA 1 [Gene - HGNC]
  • LOC132089668:Neanderthal introgressed variant-containing enhancer experimental_107116 [Gene]
  • LOC132089669:Neanderthal introgressed variant-containing enhancer experimental_107194 [Gene]
  • LOC132089670:Neanderthal introgressed variant-containing enhancer experimental_107208 [Gene]
  • LOC132089671:Neanderthal introgressed variant-containing enhancer experimental_107244 [Gene]
  • LOC126860580:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:12814001-12815200 [Gene]
  • LOC126860582:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:14812530-14813729 [Gene]
  • LOC126860583:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:16030074-16031273 [Gene]
  • LOC126860594:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:21832108-21833307 [Gene]
  • LOC126860598:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:24544345-24545544 [Gene]
  • LOC126860566:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:5437227-5438426 [Gene]
  • LOC126860572:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:6152686-6153885 [Gene]
  • LOC126860573:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:6566198-6567397 [Gene]
  • LOC126860574:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:7319761-7320960 [Gene]
  • PSIP1:PC4 and SRSF1 interacting protein 1 [Gene - OMIM - HGNC]
  • PTPRD-AS1:PTPRD antisense RNA 1 [Gene - HGNC]
  • PTPRD-DT:PTPRD divergent transcript [Gene - HGNC]
  • RANBP6:RAN binding protein 6 [Gene - HGNC]
  • RIC1:RIC1 homolog, RAB6A GEF complex partner 1 [Gene - OMIM - HGNC]
  • RCL1:RNA terminal phosphate cyclase like 1 [Gene - OMIM - HGNC]
  • RRAGA:Ras related GTP binding A [Gene - OMIM - HGNC]
  • SH3GL2:SH3 domain containing GRB2 like 2, endophilin A1 [Gene - OMIM - HGNC]
  • LOC124210611:Sharpr-MPRA regulatory region 10284 [Gene]
  • LOC113839554:Sharpr-MPRA regulatory region 10661 [Gene]
  • LOC124225056:Sharpr-MPRA regulatory region 10870 [Gene]
  • LOC121331321:Sharpr-MPRA regulatory region 12241 [Gene]
  • LOC121740739:Sharpr-MPRA regulatory region 12609 [Gene]
  • LOC121331322:Sharpr-MPRA regulatory region 13319 [Gene]
  • LOC124252625:Sharpr-MPRA regulatory region 13504 [Gene]
  • LOC124210614:Sharpr-MPRA regulatory region 1388 [Gene]
  • LOC124210616:Sharpr-MPRA regulatory region 14432 [Gene]
  • LOC124225047:Sharpr-MPRA regulatory region 14550 [Gene]
  • LOC114022704:Sharpr-MPRA regulatory region 14989 [Gene]
  • LOC114022702:Sharpr-MPRA regulatory region 15403 [Gene]
  • LOC121811699:Sharpr-MPRA regulatory region 1681 [Gene]
  • LOC111465019:Sharpr-MPRA regulatory region 2314 [Gene]
  • LOC121811700:Sharpr-MPRA regulatory region 2682 [Gene]
  • LOC124210613:Sharpr-MPRA regulatory region 3353 [Gene]
  • LOC124252623:Sharpr-MPRA regulatory region 4046 [Gene]
  • LOC124225050:Sharpr-MPRA regulatory region 4176 [Gene]
  • LOC121331319:Sharpr-MPRA regulatory region 4294 [Gene]
  • LOC124225051:Sharpr-MPRA regulatory region 5074 [Gene]
  • LOC124252622:Sharpr-MPRA regulatory region 5633 [Gene]
  • LOC121331323:Sharpr-MPRA regulatory region 6135 [Gene]
  • LOC124252624:Sharpr-MPRA regulatory region 6395 [Gene]
  • LOC124210612:Sharpr-MPRA regulatory region 6415 [Gene]
  • LOC124225057:Sharpr-MPRA regulatory region 6427 [Gene]
  • LOC124225053:Sharpr-MPRA regulatory region 7105 [Gene]
  • LOC113839543:Sharpr-MPRA regulatory region 7975 [Gene]
  • LOC124225052:Sharpr-MPRA regulatory region 8525 [Gene]
  • LOC124225048:Sharpr-MPRA regulatory region 8614 [Gene]
  • LOC124225049:Sharpr-MPRA regulatory region 8618 [Gene]
  • LOC121331320:Sharpr-MPRA regulatory region 8712 [Gene]
  • LOC124210615:Sharpr-MPRA regulatory region 873 [Gene]
  • LOC121811701:Sharpr-MPRA regulatory region 8746 [Gene]
  • LOC124225055:Sharpr-MPRA regulatory region 8935 [Gene]
  • LOC124225054:Sharpr-MPRA regulatory region 9002 [Gene]
  • LOC121811698:Sharpr-MPRA regulatory region 9164 [Gene]
  • TEK:TEK receptor tyrosine kinase [Gene - OMIM - HGNC]
  • TPD52L3:TPD52 like 3 [Gene - OMIM - HGNC]
  • LOC114827838:VISTA enhancer hs2537 [Gene]
  • LOC110120655:VISTA enhancer hs304 [Gene]
  • LOC110120656:VISTA enhancer hs305 [Gene]
  • LOC110120657:VISTA enhancer hs307 [Gene]
  • LOC110120658:VISTA enhancer hs309 [Gene]
  • LOC110120694:VISTA enhancer hs529 [Gene]
  • LOC110120727:VISTA enhancer hs643 [Gene]
  • LOC110120788:VISTA enhancer hs852 [Gene]
  • AK3:adenylate kinase 3 [Gene - OMIM - HGNC]
  • ACER2:alkaline ceramidase 2 [Gene - OMIM - HGNC]
  • BNC2:basonuclin zinc finger protein 2 [Gene - OMIM - HGNC]
  • BRD10:bromodomain containing 10 [Gene - HGNC]
  • CAAP1:caspase activity and apoptosis inhibitor 1 [Gene - HGNC]
  • CDC37L1:cell division cycle 37 like 1, HSP90 cochaperone [Gene - OMIM - HGNC]
  • CNTLN:centlein [Gene - OMIM - HGNC]
  • CER1:cerberus 1, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • LOC109504728:chromosome 9 open reading frame 72 repeat instability region [Gene]
  • CCDC171:coiled-coil domain containing 171 [Gene - HGNC]
  • CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]
  • CDKN2B:cyclin dependent kinase inhibitor 2B [Gene - OMIM - HGNC]
  • DMAC1:distal membrane arm assembly component 1 [Gene - OMIM - HGNC]
  • ERVFRD-3:endogenous retrovirus group FRD member 3 [Gene - HGNC]
  • ERMP1:endoplasmic reticulum metallopeptidase 1 [Gene - OMIM - HGNC]
  • EQTN:equatorin [Gene - OMIM - HGNC]
  • FOCAD:focadhesin [Gene - OMIM - HGNC]
  • GLDC:glycine decarboxylase [Gene - OMIM - HGNC]
  • INSL4:insulin like 4 [Gene - OMIM - HGNC]
  • INSL6:insulin like 6 [Gene - OMIM - HGNC]
  • IFNA10:interferon alpha 10 [Gene - OMIM - HGNC]
  • IFNA13:interferon alpha 13 [Gene - OMIM - HGNC]
  • IFNA14:interferon alpha 14 [Gene - OMIM - HGNC]
  • IFNA16:interferon alpha 16 [Gene - OMIM - HGNC]
  • IFNA17:interferon alpha 17 [Gene - OMIM - HGNC]
  • IFNA1:interferon alpha 1 [Gene - OMIM - HGNC]
  • IFNA21:interferon alpha 21 [Gene - OMIM - HGNC]
  • IFNA2:interferon alpha 2 [Gene - OMIM - HGNC]
  • IFNA4:interferon alpha 4 [Gene - OMIM - HGNC]
  • IFNA5:interferon alpha 5 [Gene - OMIM - HGNC]
  • IFNA6:interferon alpha 6 [Gene - OMIM - HGNC]
  • IFNA7:interferon alpha 7 [Gene - OMIM - HGNC]
  • IFNA8:interferon alpha 8 [Gene - OMIM - HGNC]
  • IFNB1:interferon beta 1 [Gene - OMIM - HGNC]
  • IFNE:interferon epsilon [Gene - OMIM - HGNC]
  • IFNK:interferon kappa [Gene - OMIM - HGNC]
  • IFNW1:interferon omega 1 [Gene - OMIM - HGNC]
  • IL33:interleukin 33 [Gene - OMIM - HGNC]
  • IFT74:intraflagellar transport 74 [Gene - OMIM - HGNC]
  • KLHL9:kelch like family member 9 [Gene - OMIM - HGNC]
  • LURAP1L:leucine rich adaptor protein 1 like [Gene - OMIM - HGNC]
  • LRRC19:leucine rich repeat containing 19 [Gene - OMIM - HGNC]
  • LINC01235:long intergenic non-protein coding RNA 1235 [Gene - HGNC]
  • LINC01239:long intergenic non-protein coding RNA 1239 [Gene - HGNC]
  • LINC01241:long intergenic non-protein coding RNA 1241 [Gene - HGNC]
  • LINC02851:long intergenic non-protein coding RNA 2851 [Gene - HGNC]
  • LINC03041:long intergenic non-protein coding RNA 3041 [Gene - HGNC]
  • LINC03106:long intergenic non-protein coding RNA 3106 [Gene - HGNC]
  • LINC00032:long intergenic non-protein coding RNA 32 [Gene - HGNC]
  • LINC00583:long intergenic non-protein coding RNA 583 [Gene - HGNC]
  • KDM4C:lysine demethylase 4C [Gene - OMIM - HGNC]
  • LOC107522029:meiotic recombination hotspot U [Gene]
  • MLANA:melan-A [Gene - OMIM - HGNC]
  • LOC128772329:melanoma risk locus-associated MPRA allelic enhancer 9:12581404 [Gene]
  • LOC128772330:melanoma risk locus-associated MPRA allelic enhancer 9:12636264 [Gene]
  • LOC128772331:melanoma risk locus-associated MPRA allelic enhancer 9:12651340 [Gene]
  • LOC128772332:melanoma risk locus-associated MPRA allelic enhancer 9:12660541 [Gene]
  • LOC128772333:melanoma risk locus-associated MPRA allelic enhancer 9:12671566 [Gene]
  • LOC128772334:melanoma risk locus-associated MPRA allelic enhancer 9:21720826 [Gene]
  • LOC128772335:melanoma risk locus-associated MPRA allelic enhancer 9:21760452 [Gene]
  • LOC128772336:melanoma risk locus-associated MPRA allelic enhancer 9:21805208 [Gene]
  • LOC128772337:melanoma risk locus-associated MPRA allelic enhancer 9:21959860 [Gene]
  • LOC128772338:melanoma risk locus-associated MPRA allelic enhancer 9:21962977 [Gene]
  • LOC128772339:melanoma risk locus-associated MPRA allelic enhancer 9:22068931 [Gene]
  • LOC128781591:melanoma risk locus-associated MPRA allelic enhancers 9:12675264 and 9:12675284 [Gene]
  • MTAP:methylthioadenosine phosphorylase [Gene - OMIM - HGNC]
  • MIR101-2:microRNA 101-2 [Gene - OMIM - HGNC]
  • MIR3152:microRNA 3152 [Gene - HGNC]
  • MIR31:microRNA 31 [Gene - OMIM - HGNC]
  • MIR4473:microRNA 4473 [Gene - HGNC]
  • MIR4474:microRNA 4474 [Gene - HGNC]
  • MIR4665:microRNA 4665 [Gene - HGNC]
  • MIR491:microRNA 491 [Gene - HGNC]
  • MPDZ:multiple PDZ domain crumbs cell polarity complex component [Gene - OMIM - HGNC]
  • NFIB:nuclear factor I B [Gene - OMIM - HGNC]
  • PLIN2:perilipin 2 [Gene - OMIM - HGNC]
  • PLAA:phospholipase A2 activating protein [Gene - OMIM - HGNC]
  • PLPP6:phospholipid phosphatase 6 [Gene - OMIM - HGNC]
  • PLGRKT:plasminogen receptor with a C-terminal lysine [Gene - OMIM - HGNC]
  • PDCD1LG2:programmed cell death 1 ligand 2 [Gene - OMIM - HGNC]
  • PTPRD:protein tyrosine phosphatase receptor type D [Gene - OMIM - HGNC]
  • RLN1:relaxin 1 [Gene - OMIM - HGNC]
  • RLN2:relaxin 2 [Gene - OMIM - HGNC]
  • RPS6:ribosomal protein S6 [Gene - OMIM - HGNC]
  • SCARNA8:small Cajal body-specific RNA 8 [Gene - OMIM - HGNC]
  • SNAPC3:small nuclear RNA activating complex polypeptide 3 [Gene - OMIM - HGNC]
  • SNORD137:small nucleolar RNA, C/D box 137 [Gene - HGNC]
  • SNORA30B:small nucleolar RNA, H/ACA box 30B [Gene - HGNC]
  • SLC24A2:solute carrier family 24 member 2 [Gene - OMIM - HGNC]
  • SPATA6L:spermatogenesis associated 6 like [Gene - HGNC]
  • SAXO1:stabilizer of axonemal microtubules 1 [Gene - OMIM - HGNC]
  • TRH-GTG1-6:tRNA-His (anticodon GTG) 1-6 [Gene - HGNC]
  • TTC39B:tetratricopeptide repeat domain 39B [Gene - OMIM - HGNC]
  • TUSC1:tumor suppressor candidate 1 [Gene - OMIM - HGNC]
  • TYRP1:tyrosinase related protein 1 [Gene - OMIM - HGNC]
  • UHRF2:ubiquitin like with PHD and ring finger domains 2 [Gene - OMIM - HGNC]
  • LOC101929563:uncharacterized LOC101929563 [Gene]
  • LOC105375972:uncharacterized LOC105375972 [Gene]
  • LOC105375976:uncharacterized LOC105375976 [Gene]
  • ZDHHC21:zinc finger DHHC-type palmitoyltransferase 21 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
9p24.1-21.2
Genomic location:
Preferred name:
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3
HGVS:
  • NC_000009.12:g.(?_4661872)_(27661572_?)dup
  • NC_000009.10:g.(?_4651872)_(27651570_?)dup
  • NC_000009.11:g.(?_4661872)_(27661570_?)dup
Links:
dbVar: nssv583243; dbVar: nsv534011
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
SCV000176784ISCA site 1

See additional submitters

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

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

Help

Summary from all submissions

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

Citations

PubMed

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, SCV000176784.4

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

Last Updated: Sep 1, 2024