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GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)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:
RCV000136558.5

Allele description [Variation Report for GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1]

GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1

Genes:
  • PXYLP1:2-phosphoxylose phosphatase 1 [Gene - OMIM - HGNC]
  • XRN1:5'-3' exoribonuclease 1 [Gene - OMIM - HGNC]
  • ALG1L2:ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 [Gene - HGNC]
  • LOC129937560:ATAC-STARR-seq lymphoblastoid active region 20519 [Gene]
  • LOC129937561:ATAC-STARR-seq lymphoblastoid active region 20520 [Gene]
  • LOC129937562:ATAC-STARR-seq lymphoblastoid active region 20521 [Gene]
  • LOC129937565:ATAC-STARR-seq lymphoblastoid active region 20522 [Gene]
  • LOC129937567:ATAC-STARR-seq lymphoblastoid active region 20523 [Gene]
  • LOC129937569:ATAC-STARR-seq lymphoblastoid active region 20524 [Gene]
  • LOC129937570:ATAC-STARR-seq lymphoblastoid active region 20525 [Gene]
  • LOC129937572:ATAC-STARR-seq lymphoblastoid active region 20526 [Gene]
  • LOC129937574:ATAC-STARR-seq lymphoblastoid active region 20527 [Gene]
  • LOC129937575:ATAC-STARR-seq lymphoblastoid active region 20528 [Gene]
  • LOC129937576:ATAC-STARR-seq lymphoblastoid active region 20529 [Gene]
  • LOC129937577:ATAC-STARR-seq lymphoblastoid active region 20532 [Gene]
  • LOC129937579:ATAC-STARR-seq lymphoblastoid active region 20534 [Gene]
  • LOC129937580:ATAC-STARR-seq lymphoblastoid active region 20536 [Gene]
  • LOC129937585:ATAC-STARR-seq lymphoblastoid active region 20539 [Gene]
  • LOC129937588:ATAC-STARR-seq lymphoblastoid active region 20540 [Gene]
  • LOC129937589:ATAC-STARR-seq lymphoblastoid active region 20541 [Gene]
  • LOC129937590:ATAC-STARR-seq lymphoblastoid active region 20542 [Gene]
  • LOC129937591:ATAC-STARR-seq lymphoblastoid active region 20543 [Gene]
  • LOC129937593:ATAC-STARR-seq lymphoblastoid active region 20544 [Gene]
  • LOC129937594:ATAC-STARR-seq lymphoblastoid active region 20545 [Gene]
  • LOC129937595:ATAC-STARR-seq lymphoblastoid active region 20546 [Gene]
  • LOC129937596:ATAC-STARR-seq lymphoblastoid active region 20547 [Gene]
  • LOC129937597:ATAC-STARR-seq lymphoblastoid active region 20548 [Gene]
  • LOC129937598:ATAC-STARR-seq lymphoblastoid active region 20549 [Gene]
  • LOC129937599:ATAC-STARR-seq lymphoblastoid active region 20550 [Gene]
  • LOC129937603:ATAC-STARR-seq lymphoblastoid active region 20553 [Gene]
  • LOC129937605:ATAC-STARR-seq lymphoblastoid active region 20554 [Gene]
  • LOC129937606:ATAC-STARR-seq lymphoblastoid active region 20555 [Gene]
  • LOC129937607:ATAC-STARR-seq lymphoblastoid active region 20556 [Gene]
  • LOC129937608:ATAC-STARR-seq lymphoblastoid active region 20557 [Gene]
  • LOC129937609:ATAC-STARR-seq lymphoblastoid active region 20558 [Gene]
  • LOC129937610:ATAC-STARR-seq lymphoblastoid active region 20559 [Gene]
  • LOC129937611:ATAC-STARR-seq lymphoblastoid active region 20560 [Gene]
  • LOC129937614:ATAC-STARR-seq lymphoblastoid active region 20562 [Gene]
  • LOC129937615:ATAC-STARR-seq lymphoblastoid active region 20563 [Gene]
  • LOC129937616:ATAC-STARR-seq lymphoblastoid active region 20564 [Gene]
  • LOC129937617:ATAC-STARR-seq lymphoblastoid active region 20565 [Gene]
  • LOC129937618:ATAC-STARR-seq lymphoblastoid active region 20566 [Gene]
  • LOC129937619:ATAC-STARR-seq lymphoblastoid active region 20567 [Gene]
  • LOC129937620:ATAC-STARR-seq lymphoblastoid active region 20568 [Gene]
  • LOC129937621:ATAC-STARR-seq lymphoblastoid active region 20569 [Gene]
  • LOC129937622:ATAC-STARR-seq lymphoblastoid active region 20570 [Gene]
  • LOC129937623:ATAC-STARR-seq lymphoblastoid active region 20571 [Gene]
  • LOC129937624:ATAC-STARR-seq lymphoblastoid active region 20572 [Gene]
  • LOC129937626:ATAC-STARR-seq lymphoblastoid active region 20573 [Gene]
  • LOC129937627:ATAC-STARR-seq lymphoblastoid active region 20574 [Gene]
  • LOC129937628:ATAC-STARR-seq lymphoblastoid active region 20575 [Gene]
  • LOC129937629:ATAC-STARR-seq lymphoblastoid active region 20576 [Gene]
  • LOC129937630:ATAC-STARR-seq lymphoblastoid active region 20577 [Gene]
  • LOC129937631:ATAC-STARR-seq lymphoblastoid active region 20578 [Gene]
  • LOC129937632:ATAC-STARR-seq lymphoblastoid active region 20579 [Gene]
  • LOC129937633:ATAC-STARR-seq lymphoblastoid active region 20580 [Gene]
  • LOC129937634:ATAC-STARR-seq lymphoblastoid active region 20586 [Gene]
  • LOC129937635:ATAC-STARR-seq lymphoblastoid active region 20588 [Gene]
  • LOC129937638:ATAC-STARR-seq lymphoblastoid active region 20589 [Gene]
  • LOC129937639:ATAC-STARR-seq lymphoblastoid active region 20590 [Gene]
  • LOC129937641:ATAC-STARR-seq lymphoblastoid active region 20591 [Gene]
  • LOC129937642:ATAC-STARR-seq lymphoblastoid active region 20592 [Gene]
  • LOC129937643:ATAC-STARR-seq lymphoblastoid active region 20594 [Gene]
  • LOC129937644:ATAC-STARR-seq lymphoblastoid active region 20595 [Gene]
  • LOC129937645:ATAC-STARR-seq lymphoblastoid active region 20598 [Gene]
  • LOC129937646:ATAC-STARR-seq lymphoblastoid active region 20599 [Gene]
  • LOC129937647:ATAC-STARR-seq lymphoblastoid active region 20600 [Gene]
  • LOC129937648:ATAC-STARR-seq lymphoblastoid active region 20601 [Gene]
  • LOC129937650:ATAC-STARR-seq lymphoblastoid active region 20602 [Gene]
  • LOC129937651:ATAC-STARR-seq lymphoblastoid active region 20603 [Gene]
  • LOC129937653:ATAC-STARR-seq lymphoblastoid active region 20604 [Gene]
  • LOC129937654:ATAC-STARR-seq lymphoblastoid active region 20605 [Gene]
  • LOC129937655:ATAC-STARR-seq lymphoblastoid active region 20606 [Gene]
  • LOC129937659:ATAC-STARR-seq lymphoblastoid active region 20607 [Gene]
  • LOC129937660:ATAC-STARR-seq lymphoblastoid active region 20608 [Gene]
  • LOC129937661:ATAC-STARR-seq lymphoblastoid active region 20611 [Gene]
  • LOC129937662:ATAC-STARR-seq lymphoblastoid active region 20615 [Gene]
  • LOC129937666:ATAC-STARR-seq lymphoblastoid active region 20616 [Gene]
  • LOC129937667:ATAC-STARR-seq lymphoblastoid active region 20617 [Gene]
  • LOC129937668:ATAC-STARR-seq lymphoblastoid active region 20618 [Gene]
  • LOC129937669:ATAC-STARR-seq lymphoblastoid active region 20619 [Gene]
  • LOC129937670:ATAC-STARR-seq lymphoblastoid active region 20620 [Gene]
  • LOC129937673:ATAC-STARR-seq lymphoblastoid active region 20622 [Gene]
  • LOC129937674:ATAC-STARR-seq lymphoblastoid active region 20623 [Gene]
  • LOC129937675:ATAC-STARR-seq lymphoblastoid active region 20625 [Gene]
  • LOC129937676:ATAC-STARR-seq lymphoblastoid active region 20626 [Gene]
  • LOC129937677:ATAC-STARR-seq lymphoblastoid active region 20627 [Gene]
  • LOC129937678:ATAC-STARR-seq lymphoblastoid active region 20628 [Gene]
  • LOC129937679:ATAC-STARR-seq lymphoblastoid active region 20629 [Gene]
  • LOC129937681:ATAC-STARR-seq lymphoblastoid active region 20630 [Gene]
  • LOC129937684:ATAC-STARR-seq lymphoblastoid active region 20631 [Gene]
  • LOC129937685:ATAC-STARR-seq lymphoblastoid active region 20632 [Gene]
  • LOC129937687:ATAC-STARR-seq lymphoblastoid active region 20633 [Gene]
  • LOC129937688:ATAC-STARR-seq lymphoblastoid active region 20634 [Gene]
  • LOC129937689:ATAC-STARR-seq lymphoblastoid active region 20635 [Gene]
  • LOC129937690:ATAC-STARR-seq lymphoblastoid active region 20637 [Gene]
  • LOC129937691:ATAC-STARR-seq lymphoblastoid active region 20638 [Gene]
  • LOC129937696:ATAC-STARR-seq lymphoblastoid active region 20640 [Gene]
  • LOC129937701:ATAC-STARR-seq lymphoblastoid active region 20641 [Gene]
  • LOC129937702:ATAC-STARR-seq lymphoblastoid active region 20642 [Gene]
  • LOC129937703:ATAC-STARR-seq lymphoblastoid active region 20643 [Gene]
  • LOC129937704:ATAC-STARR-seq lymphoblastoid active region 20644 [Gene]
  • LOC129937705:ATAC-STARR-seq lymphoblastoid active region 20645 [Gene]
  • LOC129937708:ATAC-STARR-seq lymphoblastoid active region 20647 [Gene]
  • LOC129937709:ATAC-STARR-seq lymphoblastoid active region 20650 [Gene]
  • LOC129937712:ATAC-STARR-seq lymphoblastoid active region 20651 [Gene]
  • LOC129937713:ATAC-STARR-seq lymphoblastoid active region 20652 [Gene]
  • LOC129937714:ATAC-STARR-seq lymphoblastoid active region 20653 [Gene]
  • LOC129937559:ATAC-STARR-seq lymphoblastoid silent region 14730 [Gene]
  • LOC129937563:ATAC-STARR-seq lymphoblastoid silent region 14731 [Gene]
  • LOC129937564:ATAC-STARR-seq lymphoblastoid silent region 14732 [Gene]
  • LOC129937566:ATAC-STARR-seq lymphoblastoid silent region 14733 [Gene]
  • LOC129937568:ATAC-STARR-seq lymphoblastoid silent region 14734 [Gene]
  • LOC129937571:ATAC-STARR-seq lymphoblastoid silent region 14735 [Gene]
  • LOC129937573:ATAC-STARR-seq lymphoblastoid silent region 14736 [Gene]
  • LOC129937578:ATAC-STARR-seq lymphoblastoid silent region 14738 [Gene]
  • LOC129937581:ATAC-STARR-seq lymphoblastoid silent region 14739 [Gene]
  • LOC129937582:ATAC-STARR-seq lymphoblastoid silent region 14740 [Gene]
  • LOC129937583:ATAC-STARR-seq lymphoblastoid silent region 14741 [Gene]
  • LOC129937584:ATAC-STARR-seq lymphoblastoid silent region 14742 [Gene]
  • LOC129937586:ATAC-STARR-seq lymphoblastoid silent region 14743 [Gene]
  • LOC129937587:ATAC-STARR-seq lymphoblastoid silent region 14744 [Gene]
  • LOC129937592:ATAC-STARR-seq lymphoblastoid silent region 14745 [Gene]
  • LOC129937600:ATAC-STARR-seq lymphoblastoid silent region 14746 [Gene]
  • LOC129937601:ATAC-STARR-seq lymphoblastoid silent region 14747 [Gene]
  • LOC129937602:ATAC-STARR-seq lymphoblastoid silent region 14748 [Gene]
  • LOC129937604:ATAC-STARR-seq lymphoblastoid silent region 14749 [Gene]
  • LOC129937612:ATAC-STARR-seq lymphoblastoid silent region 14750 [Gene]
  • LOC129937613:ATAC-STARR-seq lymphoblastoid silent region 14751 [Gene]
  • LOC129937625:ATAC-STARR-seq lymphoblastoid silent region 14754 [Gene]
  • LOC129937636:ATAC-STARR-seq lymphoblastoid silent region 14760 [Gene]
  • LOC129937637:ATAC-STARR-seq lymphoblastoid silent region 14761 [Gene]
  • LOC129937640:ATAC-STARR-seq lymphoblastoid silent region 14762 [Gene]
  • LOC129937649:ATAC-STARR-seq lymphoblastoid silent region 14764 [Gene]
  • LOC129937652:ATAC-STARR-seq lymphoblastoid silent region 14765 [Gene]
  • LOC129937656:ATAC-STARR-seq lymphoblastoid silent region 14766 [Gene]
  • LOC129937657:ATAC-STARR-seq lymphoblastoid silent region 14767 [Gene]
  • LOC129937658:ATAC-STARR-seq lymphoblastoid silent region 14768 [Gene]
  • LOC129937663:ATAC-STARR-seq lymphoblastoid silent region 14769 [Gene]
  • LOC129937664:ATAC-STARR-seq lymphoblastoid silent region 14770 [Gene]
  • LOC129937665:ATAC-STARR-seq lymphoblastoid silent region 14771 [Gene]
  • LOC129937671:ATAC-STARR-seq lymphoblastoid silent region 14772 [Gene]
  • LOC129937672:ATAC-STARR-seq lymphoblastoid silent region 14773 [Gene]
  • LOC129937680:ATAC-STARR-seq lymphoblastoid silent region 14774 [Gene]
  • LOC129937682:ATAC-STARR-seq lymphoblastoid silent region 14775 [Gene]
  • LOC129937683:ATAC-STARR-seq lymphoblastoid silent region 14776 [Gene]
  • LOC129937686:ATAC-STARR-seq lymphoblastoid silent region 14777 [Gene]
  • LOC129937692:ATAC-STARR-seq lymphoblastoid silent region 14780 [Gene]
  • LOC129937693:ATAC-STARR-seq lymphoblastoid silent region 14781 [Gene]
  • LOC129937694:ATAC-STARR-seq lymphoblastoid silent region 14782 [Gene]
  • LOC129937695:ATAC-STARR-seq lymphoblastoid silent region 14783 [Gene]
  • LOC129937697:ATAC-STARR-seq lymphoblastoid silent region 14784 [Gene]
  • LOC129937698:ATAC-STARR-seq lymphoblastoid silent region 14787 [Gene]
  • LOC129937699:ATAC-STARR-seq lymphoblastoid silent region 14788 [Gene]
  • LOC129937700:ATAC-STARR-seq lymphoblastoid silent region 14789 [Gene]
  • LOC129937706:ATAC-STARR-seq lymphoblastoid silent region 14790 [Gene]
  • LOC129937707:ATAC-STARR-seq lymphoblastoid silent region 14791 [Gene]
  • LOC129937710:ATAC-STARR-seq lymphoblastoid silent region 14793 [Gene]
  • LOC129937711:ATAC-STARR-seq lymphoblastoid silent region 14794 [Gene]
  • ATP1B3:ATPase Na+/K+ transporting subunit beta 3 [Gene - OMIM - HGNC]
  • ATP2C1:ATPase secretory pathway Ca2+ transporting 1 [Gene - OMIM - HGNC]
  • ATR:ATR serine/threonine kinase [Gene - OMIM - HGNC]
  • BFSP2-AS1:BFSP2 antisense RNA 1 [Gene - HGNC]
  • LOC126806814:BRD4-independent group 4 enhancer GRCh37_chr3:132337002-132338201 [Gene]
  • LOC126806816:BRD4-independent group 4 enhancer GRCh37_chr3:132996224-132997423 [Gene]
  • LOC126806818:BRD4-independent group 4 enhancer GRCh37_chr3:134145749-134146948 [Gene]
  • LOC126806823:BRD4-independent group 4 enhancer GRCh37_chr3:139191689-139192888 [Gene]
  • LOC126806825:BRD4-independent group 4 enhancer GRCh37_chr3:139917505-139918704 [Gene]
  • LOC126806826:BRD4-independent group 4 enhancer GRCh37_chr3:140105082-140106281 [Gene]
  • LOC126806827:BRD4-independent group 4 enhancer GRCh37_chr3:140141804-140143003 [Gene]
  • LOC126806830:BRD4-independent group 4 enhancer GRCh37_chr3:142203676-142204875 [Gene]
  • LOC126806812:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:130126750-130127949 [Gene]
  • LOC126806817:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:134059546-134060745 [Gene]
  • LOC126806824:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:139256460-139257659 [Gene]
  • CDV3:CDV3 homolog [Gene - OMIM - HGNC]
  • CLSTN2-AS1:CLSTN2 antisense RNA 1 [Gene - HGNC]
  • COPB2-DT:COPB2 divergent transcript [Gene - HGNC]
  • COPB2:COPI coat complex subunit beta 2 [Gene - OMIM - HGNC]
  • LOC115995522:CRISPRi-validated cis-regulatory element chr3.4045 [Gene]
  • LOC115995523:CRISPRi-validated cis-regulatory element chr3.4087 [Gene]
  • LOC115995524:CRISPRi-validated cis-regulatory element chr3.4237 [Gene]
  • LOC115995525:CRISPRi-validated cis-regulatory element chr3.4238 [Gene]
  • LOC115995526:CRISPRi-validated cis-regulatory element chr3.4297 [Gene]
  • DZIP1L:DAZ interacting zinc finger protein 1 like [Gene - OMIM - HGNC]
  • TOPBP1:DNA topoisomerase II binding protein 1 [Gene - OMIM - HGNC]
  • DNAJC13:DnaJ heat shock protein family (Hsp40) member C13 [Gene - OMIM - HGNC]
  • EPHB1:EPH receptor B1 [Gene - OMIM - HGNC]
  • FOXL2NB:FOXL2 neighbor [Gene - HGNC]
  • FAIM:Fas apoptotic inhibitory molecule [Gene - OMIM - HGNC]
  • GRK7:G protein-coupled receptor kinase 7 [Gene - OMIM - HGNC]
  • LOC111365202:HNF1 motif-containing MPRA enhancer 82 [Gene]
  • IL20RB-AS1:IL20RB antisense RNA 1 [Gene - HGNC]
  • LOC126806813:MED14-independent group 3 enhancer GRCh37_chr3:131735283-131736482 [Gene]
  • LOC126806820:MED14-independent group 3 enhancer GRCh37_chr3:135788758-135789957 [Gene]
  • LOC126806821:MED14-independent group 3 enhancer GRCh37_chr3:137038167-137039366 [Gene]
  • LOC126806822:MED14-independent group 3 enhancer GRCh37_chr3:137050490-137051689 [Gene]
  • LOC129389135:MPRA-validated peak4828 silencer [Gene]
  • LOC129389136:MPRA-validated peak4829 silencer [Gene]
  • LOC129389137:MPRA-validated peak4833 silencer [Gene]
  • LOC129389138:MPRA-validated peak4836 silencer [Gene]
  • LOC129389139:MPRA-validated peak4840 silencer [Gene]
  • LOC129389140:MPRA-validated peak4841 silencer [Gene]
  • LOC129389141:MPRA-validated peak4844 silencer [Gene]
  • LOC129389142:MPRA-validated peak4845 silencer [Gene]
  • LOC129389143:MPRA-validated peak4849 silencer [Gene]
  • MSL2:MSL complex subunit 2 [Gene - OMIM - HGNC]
  • NCK1:NCK adaptor protein 1 [Gene - OMIM - HGNC]
  • NCK1-DT:NCK1 divergent transcript [Gene - HGNC]
  • NEK11:NIMA related kinase 11 [Gene - OMIM - HGNC]
  • NME9:NME/NM23 family member 9 [Gene - OMIM - HGNC]
  • NPHP3-AS1:NPHP3 antisense RNA 1 [Gene - HGNC]
  • NPHP3-ACAD11:NPHP3-ACAD11 readthrough (NMD candidate) [Gene - HGNC]
  • NUDT16-DT:NUDT16 divergent transcript [Gene - HGNC]
  • LOC132088865:Neanderthal introgressed variant-containing enhancer experimental_64660 [Gene]
  • LOC132088866:Neanderthal introgressed variant-containing enhancer experimental_64751 [Gene]
  • LOC132088869:Neanderthal introgressed variant-containing enhancer experimental_64847 [Gene]
  • LOC126806815:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:132348758-132349957 [Gene]
  • LOC126806819:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:135232323-135233522 [Gene]
  • LOC126806828:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:140185495-140186694 [Gene]
  • LOC126806829:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:141086748-141087947 [Gene]
  • LOC126806831:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:142677150-142678349 [Gene]
  • PAQR9-AS1:PAQR9 antisense RNA 1 [Gene - HGNC]
  • PISRT1:PISRT1 lncRNA [Gene - HGNC]
  • PLS1-AS1:PLS1 antisense RNA 1 [Gene - HGNC]
  • RAB6B:RAB6B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RASA2:RAS p21 protein activator 2 [Gene - OMIM - HGNC]
  • RASA2-IT1:RASA2 intronic transcript 1 [Gene - HGNC]
  • SLC9A9-AS1:SLC9A9 antisense RNA 1 [Gene - HGNC]
  • LOC108281117:SOX14 promoter region [Gene]
  • SRPRB:SRP receptor subunit beta [Gene - OMIM - HGNC]
  • SOX14:SRY-box transcription factor 14 [Gene - OMIM - HGNC]
  • STAG1:STAG1 cohesin complex component [Gene - OMIM - HGNC]
  • STAG1-DT:STAG1 divergent transcript [Gene - HGNC]
  • LOC112903842:Sharpr-MPRA regulatory region 12219 [Gene]
  • LOC112903840:Sharpr-MPRA regulatory region 1318 [Gene]
  • LOC112903836:Sharpr-MPRA regulatory region 13907 [Gene]
  • LOC123038191:Sharpr-MPRA regulatory region 14292 [Gene]
  • LOC123038185:Sharpr-MPRA regulatory region 14374 [Gene]
  • LOC123038183:Sharpr-MPRA regulatory region 15178 [Gene]
  • LOC123038192:Sharpr-MPRA regulatory region 1798 [Gene]
  • LOC112903838:Sharpr-MPRA regulatory region 3094 [Gene]
  • LOC121048716:Sharpr-MPRA regulatory region 3462 [Gene]
  • LOC121048713:Sharpr-MPRA regulatory region 3980 [Gene]
  • LOC112903839:Sharpr-MPRA regulatory region 3993 [Gene]
  • LOC123038195:Sharpr-MPRA regulatory region 4576 [Gene]
  • LOC123038194:Sharpr-MPRA regulatory region 4874 [Gene]
  • LOC112903837:Sharpr-MPRA regulatory region 4898 [Gene]
  • LOC121048711:Sharpr-MPRA regulatory region 6102 [Gene]
  • LOC121048715:Sharpr-MPRA regulatory region 6947 [Gene]
  • LOC123038182:Sharpr-MPRA regulatory region 7150 [Gene]
  • LOC121048714:Sharpr-MPRA regulatory region 7279 [Gene]
  • LOC123038189:Sharpr-MPRA regulatory region 765 [Gene]
  • LOC121048712:Sharpr-MPRA regulatory region 8152 [Gene]
  • LOC123038186:Sharpr-MPRA regulatory region 8229 [Gene]
  • LOC121725155:Sharpr-MPRA regulatory region 8475 [Gene]
  • LOC123038184:Sharpr-MPRA regulatory region 8682 [Gene]
  • LOC123038193:Sharpr-MPRA regulatory region 9070 [Gene]
  • LOC112903835:Sharpr-MPRA regulatory region 9074 [Gene]
  • LOC123038190:Sharpr-MPRA regulatory region 9179 [Gene]
  • LOC123038187:Sharpr-MPRA regulatory region 9661 [Gene]
  • LOC123038188:Sharpr-MPRA regulatory region 9743 [Gene]
  • LOC121048710:Sharpr-MPRA regulatory regions 684 and 10996 [Gene]
  • TMCC1-DT:TMCC1 divergent transcript [Gene - HGNC]
  • TMEM108-AS1:TMEM108 antisense RNA 1 [Gene - HGNC]
  • U2SURP:U2 snRNP associated SURP domain containing [Gene - OMIM - HGNC]
  • LOC110121244:VISTA enhancer hs2041 [Gene]
  • LOC110120612:VISTA enhancer hs208 [Gene]
  • LOC110120613:VISTA enhancer hs209 [Gene]
  • LOC110120614:VISTA enhancer hs210 [Gene]
  • LOC110120732:VISTA enhancer hs653 [Gene]
  • LOC110120785:VISTA enhancer hs843 [Gene]
  • ACP3:acid phosphatase 3 [Gene - OMIM - HGNC]
  • ACAD11:acyl-CoA dehydrogenase family member 11 [Gene - OMIM - HGNC]
  • A4GNT:alpha-1,4-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • ANAPC13:anaphase promoting complex subunit 13 [Gene - OMIM - HGNC]
  • AMOTL2:angiomotin like 2 [Gene - OMIM - HGNC]
  • ARMC8:armadillo repeat containing 8 [Gene - OMIM - HGNC]
  • ASTE1:asteroid homolog 1 [Gene - HGNC]
  • ACKR4:atypical chemokine receptor 4 [Gene - OMIM - HGNC]
  • BFSP2:beaded filament structural protein 2 [Gene - OMIM - HGNC]
  • BPESC1:blepharophimosis, epicanthus inversus and ptosis candidate 1 [Gene - OMIM - HGNC]
  • CLSTN2:calsyntenin 2 [Gene - OMIM - HGNC]
  • CHST2:carbohydrate sulfotransferase 2 [Gene - OMIM - HGNC]
  • CEP63:centrosomal protein 63 [Gene - OMIM - HGNC]
  • CEP70:centrosomal protein 70 [Gene - OMIM - HGNC]
  • C3orf36:chromosome 3 putative open reading frame 36 [Gene - HGNC]
  • CLDN18:claudin 18 [Gene - OMIM - HGNC]
  • COL6A5:collagen type VI alpha 5 chain [Gene - OMIM - HGNC]
  • COL6A6:collagen type VI alpha 6 chain [Gene - OMIM - HGNC]
  • CPNE4:copine 4 [Gene - OMIM - HGNC]
  • DBR1:debranching RNA lariats 1 [Gene - OMIM - HGNC]
  • ESYT3:extended synaptotagmin 3 [Gene - OMIM - HGNC]
  • FOXL2:forkhead box L2 [Gene - OMIM - HGNC]
  • GK5:glycerol kinase 5 [Gene - HGNC]
  • IL20RB:interleukin 20 receptor subunit beta [Gene - OMIM - HGNC]
  • KY:kyphoscoliosis peptidase [Gene - OMIM - HGNC]
  • LINC01210:long intergenic non-protein coding RNA 1210 [Gene - HGNC]
  • LINC01391:long intergenic non-protein coding RNA 1391 [Gene - HGNC]
  • LINC02000:long intergenic non-protein coding RNA 2000 [Gene - HGNC]
  • LINC02004:long intergenic non-protein coding RNA 2004 [Gene - HGNC]
  • LINC02014:long intergenic non-protein coding RNA 2014 [Gene - HGNC]
  • LINC02021:long intergenic non-protein coding RNA 2021 [Gene - HGNC]
  • LINC02618:long intergenic non-protein coding RNA 2618 [Gene - HGNC]
  • MIR4788:microRNA 4788 [Gene - HGNC]
  • MIR5704:microRNA 5704 [Gene - HGNC]
  • MIR6827:microRNA 6827 [Gene - HGNC]
  • MRPL3:mitochondrial ribosomal protein L3 [Gene - OMIM - HGNC]
  • MRPS22:mitochondrial ribosomal protein S22 [Gene - OMIM - HGNC]
  • MRAS:muscle RAS oncogene homolog [Gene - OMIM - HGNC]
  • NPHP3:nephrocystin 3 [Gene - OMIM - HGNC]
  • NMNAT3:nicotinamide nucleotide adenylyltransferase 3 [Gene - OMIM - HGNC]
  • NUDT16:nudix hydrolase 16 [Gene - OMIM - HGNC]
  • PIK3CB:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta [Gene - OMIM - HGNC]
  • PIK3R4:phosphoinositide-3-kinase regulatory subunit 4 [Gene - OMIM - HGNC]
  • PLS1:plastin 1 [Gene - OMIM - HGNC]
  • PCOLCE2:procollagen C-endopeptidase enhancer 2 [Gene - OMIM - HGNC]
  • PAQR9:progestin and adipoQ receptor family member 9 [Gene - OMIM - HGNC]
  • PRR23A:proline rich 23A [Gene - HGNC]
  • PRR23B:proline rich 23B [Gene - HGNC]
  • PRR23C:proline rich 23C [Gene - HGNC]
  • PCCB:propionyl-CoA carboxylase subunit beta [Gene - OMIM - HGNC]
  • PPP2R3A:protein phosphatase 2 regulatory subunit B''alpha [Gene - OMIM - HGNC]
  • RYK:receptor like tyrosine kinase [Gene - OMIM - HGNC]
  • RBP1:retinol binding protein 1 [Gene - OMIM - HGNC]
  • RBP2:retinol binding protein 2 [Gene - OMIM - HGNC]
  • RNF7:ring finger protein 7 [Gene - OMIM - HGNC]
  • SNORA58:small nucleolar RNA, H/ACA box 58 [Gene - HGNC]
  • SLC25A36:solute carrier family 25 member 36 [Gene - OMIM - HGNC]
  • SLC35G2:solute carrier family 35 member G2 [Gene - OMIM - HGNC]
  • SLC9A9:solute carrier family 9 member A9 [Gene - OMIM - HGNC]
  • SLCO2A1:solute carrier organic anion transporter family member 2A1 [Gene - OMIM - HGNC]
  • SPSB4:splA/ryanodine receptor domain and SOCS box containing 4 [Gene - OMIM - HGNC]
  • TRC-GCA6-1:tRNA-Cys (anticodon GCA) 6-1 [Gene - HGNC]
  • TRC-GCA9-1:tRNA-Cys (anticodon GCA) 9-1 [Gene - HGNC]
  • TRH:thyrotropin releasing hormone [Gene - OMIM - HGNC]
  • TFDP2:transcription factor Dp-2 [Gene - OMIM - HGNC]
  • TF:transferrin [Gene - OMIM - HGNC]
  • TRPC1:transient receptor potential cation channel subfamily C member 1 [Gene - OMIM - HGNC]
  • TMCC1:transmembrane and coiled-coil domain family 1 [Gene - OMIM - HGNC]
  • TMEM108:transmembrane protein 108 [Gene - OMIM - HGNC]
  • TRIM42:tripartite motif containing 42 [Gene - OMIM - HGNC]
  • UBA5:ubiquitin like modifier activating enzyme 5 [Gene - OMIM - HGNC]
  • LOC100289361:uncharacterized LOC100289361 [Gene]
  • LOC100507389:uncharacterized LOC100507389 [Gene]
  • LOC101927432:uncharacterized LOC101927432 [Gene]
  • LOC105374114:uncharacterized LOC105374114 [Gene]
  • ZBTB38:zinc finger and BTB domain containing 38 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3q22.1-24
Genomic location:
Preferred name:
GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1
HGVS:
  • NC_000003.12:g.(?_129817243)_(143381624_?)del
  • NC_000003.10:g.(?_131018776)_(144583156_?)del
  • NC_000003.11:g.(?_129536086)_(143100466_?)del
Links:
dbVar: nssv583018; dbVar: nsv533871
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
SCV000176641ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		not providedclinical 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, SCV000176641.4

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

Last Updated: Oct 28, 2023