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GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 2013
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:
RCV000142010.5

Allele description [Variation Report for GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3]

GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3

Genes:
  • HMCES:5-hydroxymethylcytosine binding, ES cell specific [Gene - OMIM - HGNC]
  • ACAD9-DT:ACAD9 divergent transcript [Gene - HGNC]
  • ALDH1L1-AS1:ALDH1L1 antisense RNA 1 [Gene - HGNC]
  • ALDH1L1-AS2:ALDH1L1 antisense RNA 2 [Gene - HGNC]
  • ALG1L2:ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 [Gene - HGNC]
  • LOC129937461:ATAC-STARR-seq lymphoblastoid active region 20437 [Gene]
  • LOC129937465:ATAC-STARR-seq lymphoblastoid active region 20439 [Gene]
  • LOC129937467:ATAC-STARR-seq lymphoblastoid active region 20441 [Gene]
  • LOC129937469:ATAC-STARR-seq lymphoblastoid active region 20445 [Gene]
  • LOC129937470:ATAC-STARR-seq lymphoblastoid active region 20446 [Gene]
  • LOC129937471:ATAC-STARR-seq lymphoblastoid active region 20447 [Gene]
  • LOC129937475:ATAC-STARR-seq lymphoblastoid active region 20449 [Gene]
  • LOC129937476:ATAC-STARR-seq lymphoblastoid active region 20450 [Gene]
  • LOC129937478:ATAC-STARR-seq lymphoblastoid active region 20451 [Gene]
  • LOC129937479:ATAC-STARR-seq lymphoblastoid active region 20452 [Gene]
  • LOC129937480:ATAC-STARR-seq lymphoblastoid active region 20453 [Gene]
  • LOC129937481:ATAC-STARR-seq lymphoblastoid active region 20454 [Gene]
  • LOC129937483:ATAC-STARR-seq lymphoblastoid active region 20455 [Gene]
  • LOC129937484:ATAC-STARR-seq lymphoblastoid active region 20456 [Gene]
  • LOC129937490:ATAC-STARR-seq lymphoblastoid active region 20458 [Gene]
  • LOC129937494:ATAC-STARR-seq lymphoblastoid active region 20459 [Gene]
  • LOC129937495:ATAC-STARR-seq lymphoblastoid active region 20460 [Gene]
  • LOC129937496:ATAC-STARR-seq lymphoblastoid active region 20463 [Gene]
  • LOC129937497:ATAC-STARR-seq lymphoblastoid active region 20464 [Gene]
  • LOC129937498:ATAC-STARR-seq lymphoblastoid active region 20468 [Gene]
  • LOC129937499:ATAC-STARR-seq lymphoblastoid active region 20469 [Gene]
  • LOC129937500:ATAC-STARR-seq lymphoblastoid active region 20470 [Gene]
  • LOC129937501:ATAC-STARR-seq lymphoblastoid active region 20471 [Gene]
  • LOC129937502:ATAC-STARR-seq lymphoblastoid active region 20472 [Gene]
  • LOC129937503:ATAC-STARR-seq lymphoblastoid active region 20473 [Gene]
  • LOC129937505:ATAC-STARR-seq lymphoblastoid active region 20475 [Gene]
  • LOC129937509:ATAC-STARR-seq lymphoblastoid active region 20476 [Gene]
  • LOC129937511:ATAC-STARR-seq lymphoblastoid active region 20477 [Gene]
  • LOC129937513:ATAC-STARR-seq lymphoblastoid active region 20478 [Gene]
  • LOC129937514:ATAC-STARR-seq lymphoblastoid active region 20479 [Gene]
  • LOC129937515:ATAC-STARR-seq lymphoblastoid active region 20482 [Gene]
  • LOC129937516:ATAC-STARR-seq lymphoblastoid active region 20483 [Gene]
  • LOC129937519:ATAC-STARR-seq lymphoblastoid active region 20484 [Gene]
  • LOC129937520:ATAC-STARR-seq lymphoblastoid active region 20487 [Gene]
  • LOC129937522:ATAC-STARR-seq lymphoblastoid active region 20488 [Gene]
  • LOC129937523:ATAC-STARR-seq lymphoblastoid active region 20489 [Gene]
  • LOC129937524:ATAC-STARR-seq lymphoblastoid active region 20490 [Gene]
  • LOC129937525:ATAC-STARR-seq lymphoblastoid active region 20493 [Gene]
  • LOC129937526:ATAC-STARR-seq lymphoblastoid active region 20494 [Gene]
  • LOC129937527:ATAC-STARR-seq lymphoblastoid active region 20495 [Gene]
  • LOC129937528:ATAC-STARR-seq lymphoblastoid active region 20496 [Gene]
  • LOC129937532:ATAC-STARR-seq lymphoblastoid active region 20502 [Gene]
  • LOC129937535:ATAC-STARR-seq lymphoblastoid active region 20503 [Gene]
  • LOC129937536:ATAC-STARR-seq lymphoblastoid active region 20504 [Gene]
  • LOC129937537:ATAC-STARR-seq lymphoblastoid active region 20505 [Gene]
  • LOC129937538:ATAC-STARR-seq lymphoblastoid active region 20506 [Gene]
  • LOC129937539:ATAC-STARR-seq lymphoblastoid active region 20507 [Gene]
  • LOC129937542:ATAC-STARR-seq lymphoblastoid active region 20508 [Gene]
  • LOC129937543:ATAC-STARR-seq lymphoblastoid active region 20509 [Gene]
  • LOC129937547:ATAC-STARR-seq lymphoblastoid active region 20510 [Gene]
  • LOC129937548:ATAC-STARR-seq lymphoblastoid active region 20511 [Gene]
  • LOC129937550:ATAC-STARR-seq lymphoblastoid active region 20512 [Gene]
  • LOC129937551:ATAC-STARR-seq lymphoblastoid active region 20513 [Gene]
  • LOC129937552:ATAC-STARR-seq lymphoblastoid active region 20514 [Gene]
  • LOC129937553:ATAC-STARR-seq lymphoblastoid active region 20515 [Gene]
  • LOC129937554:ATAC-STARR-seq lymphoblastoid active region 20516 [Gene]
  • LOC129937555:ATAC-STARR-seq lymphoblastoid active region 20517 [Gene]
  • LOC129937558:ATAC-STARR-seq lymphoblastoid active region 20518 [Gene]
  • 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]
  • LOC129937460:ATAC-STARR-seq lymphoblastoid silent region 14674 [Gene]
  • LOC129937462:ATAC-STARR-seq lymphoblastoid silent region 14676 [Gene]
  • LOC129937463:ATAC-STARR-seq lymphoblastoid silent region 14677 [Gene]
  • LOC129937464:ATAC-STARR-seq lymphoblastoid silent region 14678 [Gene]
  • LOC129937466:ATAC-STARR-seq lymphoblastoid silent region 14679 [Gene]
  • LOC129937468:ATAC-STARR-seq lymphoblastoid silent region 14680 [Gene]
  • LOC129937472:ATAC-STARR-seq lymphoblastoid silent region 14681 [Gene]
  • LOC129937473:ATAC-STARR-seq lymphoblastoid silent region 14682 [Gene]
  • LOC129937474:ATAC-STARR-seq lymphoblastoid silent region 14683 [Gene]
  • LOC129937477:ATAC-STARR-seq lymphoblastoid silent region 14684 [Gene]
  • LOC129937482:ATAC-STARR-seq lymphoblastoid silent region 14685 [Gene]
  • LOC129937485:ATAC-STARR-seq lymphoblastoid silent region 14686 [Gene]
  • LOC129937486:ATAC-STARR-seq lymphoblastoid silent region 14687 [Gene]
  • LOC129937487:ATAC-STARR-seq lymphoblastoid silent region 14690 [Gene]
  • LOC129937488:ATAC-STARR-seq lymphoblastoid silent region 14692 [Gene]
  • LOC129937489:ATAC-STARR-seq lymphoblastoid silent region 14693 [Gene]
  • LOC129937491:ATAC-STARR-seq lymphoblastoid silent region 14694 [Gene]
  • LOC129937492:ATAC-STARR-seq lymphoblastoid silent region 14695 [Gene]
  • LOC129937493:ATAC-STARR-seq lymphoblastoid silent region 14696 [Gene]
  • LOC129937504:ATAC-STARR-seq lymphoblastoid silent region 14697 [Gene]
  • LOC129937506:ATAC-STARR-seq lymphoblastoid silent region 14699 [Gene]
  • LOC129937507:ATAC-STARR-seq lymphoblastoid silent region 14700 [Gene]
  • LOC129937508:ATAC-STARR-seq lymphoblastoid silent region 14701 [Gene]
  • LOC129937510:ATAC-STARR-seq lymphoblastoid silent region 14702 [Gene]
  • LOC129937512:ATAC-STARR-seq lymphoblastoid silent region 14703 [Gene]
  • LOC129937517:ATAC-STARR-seq lymphoblastoid silent region 14707 [Gene]
  • LOC129937518:ATAC-STARR-seq lymphoblastoid silent region 14708 [Gene]
  • LOC129937521:ATAC-STARR-seq lymphoblastoid silent region 14709 [Gene]
  • LOC129937529:ATAC-STARR-seq lymphoblastoid silent region 14712 [Gene]
  • LOC129937530:ATAC-STARR-seq lymphoblastoid silent region 14714 [Gene]
  • LOC129937531:ATAC-STARR-seq lymphoblastoid silent region 14716 [Gene]
  • LOC129937533:ATAC-STARR-seq lymphoblastoid silent region 14717 [Gene]
  • LOC129937534:ATAC-STARR-seq lymphoblastoid silent region 14718 [Gene]
  • LOC129937540:ATAC-STARR-seq lymphoblastoid silent region 14719 [Gene]
  • LOC129937541:ATAC-STARR-seq lymphoblastoid silent region 14720 [Gene]
  • LOC129937544:ATAC-STARR-seq lymphoblastoid silent region 14721 [Gene]
  • LOC129937545:ATAC-STARR-seq lymphoblastoid silent region 14722 [Gene]
  • LOC129937546:ATAC-STARR-seq lymphoblastoid silent region 14723 [Gene]
  • LOC129937549:ATAC-STARR-seq lymphoblastoid silent region 14724 [Gene]
  • LOC129937556:ATAC-STARR-seq lymphoblastoid silent region 14726 [Gene]
  • LOC129937557:ATAC-STARR-seq lymphoblastoid silent region 14728 [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]
  • ATP2C1:ATPase secretory pathway Ca2+ transporting 1 [Gene - OMIM - HGNC]
  • BFSP2-AS1:BFSP2 antisense RNA 1 [Gene - HGNC]
  • LOC126806801:BRD4-independent group 4 enhancer GRCh37_chr3:126207907-126209106 [Gene]
  • LOC126806803:BRD4-independent group 4 enhancer GRCh37_chr3:127121540-127122739 [Gene]
  • LOC126806804:BRD4-independent group 4 enhancer GRCh37_chr3:127472805-127474004 [Gene]
  • LOC126806807:BRD4-independent group 4 enhancer GRCh37_chr3:128620937-128622136 [Gene]
  • 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]
  • CNBP:CCHC-type zinc finger nucleic acid binding protein [Gene - OMIM - HGNC]
  • LOC126806808:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:128705779-128706978 [Gene]
  • LOC126806810:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:129213542-129214741 [Gene]
  • LOC126806811:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:129513146-129514345 [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]
  • CFAP100-DT:CFAP100 divergent transcript [Gene - 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]
  • COPG1:COPI coat complex subunit gamma 1 [Gene - OMIM - HGNC]
  • LOC117038769:CRISPRi-FlowFISH-validated H1-10 regulatory element 1 [Gene]
  • LOC117038771:CRISPRi-FlowFISH-validated H1-10 regulatory element 2 [Gene]
  • LOC117038773:CRISPRi-FlowFISH-validated H1-10 regulatory element 3 [Gene]
  • LOC117038774:CRISPRi-FlowFISH-validated H1-10 regulatory element 4 [Gene]
  • LOC117011629:CRISPRi-FlowFISH-validated RPN1 regulatory element 1 [Gene]
  • LOC117038770:CRISPRi-FlowFISH-validated RPN1 regulatory element 2 [Gene]
  • LOC117038772:CRISPRi-FlowFISH-validated RPN1 regulatory element 3 [Gene]
  • LOC115995518:CRISPRi-validated cis-regulatory element chr3.3676 [Gene]
  • LOC115995519:CRISPRi-validated cis-regulatory element chr3.3677 [Gene]
  • LOC115995520:CRISPRi-validated cis-regulatory element chr3.3678 [Gene]
  • LOC115995521:CRISPRi-validated cis-regulatory element chr3.3679 [Gene]
  • LOC115995522:CRISPRi-validated cis-regulatory element chr3.4045 [Gene]
  • LOC115995523:CRISPRi-validated cis-regulatory element chr3.4087 [Gene]
  • DZIP1L:DAZ interacting zinc finger protein 1 like [Gene - OMIM - HGNC]
  • TOPBP1:DNA topoisomerase II binding protein 1 [Gene - OMIM - HGNC]
  • DNAJB8-AS1:DNAJB8 antisense RNA 1 [Gene - HGNC]
  • DNAJB8:DnaJ heat shock protein family (Hsp40) member B8 [Gene - OMIM - HGNC]
  • DNAJC13:DnaJ heat shock protein family (Hsp40) member C13 [Gene - OMIM - HGNC]
  • EFCC1:EF-hand and coiled-coil domain containing 1 [Gene - HGNC]
  • EFCAB12:EF-hand calcium binding domain 12 [Gene - HGNC]
  • EPHB1:EPH receptor B1 [Gene - OMIM - HGNC]
  • FOXL2NB:FOXL2 neighbor [Gene - HGNC]
  • FAIM:Fas apoptotic inhibitory molecule [Gene - OMIM - HGNC]
  • GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
  • GATA2-AS1:GATA2 antisense RNA 1 [Gene - HGNC]
  • H1-10-AS1:H1-10 antisense RNA 1 [Gene - HGNC]
  • H1-10:H1.10 linker histone [Gene - OMIM - HGNC]
  • H1-8:H1.8 linker histone [Gene - HGNC]
  • LOC111365202:HNF1 motif-containing MPRA enhancer 82 [Gene]
  • IL20RB-AS1:IL20RB antisense RNA 1 [Gene - HGNC]
  • ISY1:ISY1 splicing factor homolog [Gene - OMIM - HGNC]
  • ISY1-RAB43:ISY1-RAB43 readthrough [Gene - HGNC]
  • KLF15:KLF transcription factor 15 [Gene - OMIM - HGNC]
  • LOC126806800:MED14-independent group 3 enhancer GRCh37_chr3:125926972-125928171 [Gene]
  • LOC126806802:MED14-independent group 3 enhancer GRCh37_chr3:126629966-126631165 [Gene]
  • LOC126806805:MED14-independent group 3 enhancer GRCh37_chr3:127536190-127537389 [Gene]
  • LOC126806806:MED14-independent group 3 enhancer GRCh37_chr3:128223035-128224234 [Gene]
  • 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]
  • LOC108192211:MGLL intron CAGE-defined high expression enhancer [Gene]
  • LOC129389128:MPRA-validated peak4813 silencer [Gene]
  • LOC129389129:MPRA-validated peak4817 silencer [Gene]
  • LOC129389130:MPRA-validated peak4818 silencer [Gene]
  • LOC129389131:MPRA-validated peak4821 silencer [Gene]
  • LOC129389132:MPRA-validated peak4823 silencer [Gene]
  • LOC129389133:MPRA-validated peak4825 silencer [Gene]
  • LOC129389134:MPRA-validated peak4826 silencer [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]
  • LOC111556160:NFE2L2 motif-containing MPRA enhancer 136 [Gene]
  • 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]
  • LOC132088863:Neanderthal introgressed variant-containing enhancer experimental_64577 [Gene]
  • LOC132088864:Neanderthal introgressed variant-containing enhancer experimental_64587 [Gene]
  • LOC132088865:Neanderthal introgressed variant-containing enhancer experimental_64660 [Gene]
  • LOC132088866:Neanderthal introgressed variant-containing enhancer experimental_64751 [Gene]
  • LOC123038177:OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:128287100-128287778 [Gene]
  • LOC126806809:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:129107257-129108456 [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]
  • PISRT1:PISRT1 lncRNA [Gene - HGNC]
  • PRR23E:PRR23 family member E [Gene - HGNC]
  • RAB43:RAB43, member RAS oncogene family [Gene - HGNC]
  • RAB6B:RAB6B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB7A:RAB7A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RUVBL1-AS1:RUVBL1 antisense RNA 1 [Gene - HGNC]
  • RUVBL1:RuvB like AAA ATPase 1 [Gene - OMIM - HGNC]
  • SEC61A1:SEC61 translocon subunit alpha 1 [Gene - OMIM - 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]
  • LOC123038176:Sharpr-MPRA regulatory region 10596 [Gene]
  • LOC121048709:Sharpr-MPRA regulatory region 10640 [Gene]
  • LOC121009685:Sharpr-MPRA regulatory region 10778 [Gene]
  • LOC123038168:Sharpr-MPRA regulatory region 1093 [Gene]
  • LOC112872304:Sharpr-MPRA regulatory region 11052 [Gene]
  • LOC123038170:Sharpr-MPRA regulatory region 11201 [Gene]
  • LOC123038172:Sharpr-MPRA regulatory region 11416 [Gene]
  • LOC112872302:Sharpr-MPRA regulatory region 12201 [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]
  • LOC112872303:Sharpr-MPRA regulatory region 14456 [Gene]
  • LOC112872301:Sharpr-MPRA regulatory region 1469 [Gene]
  • LOC123038183:Sharpr-MPRA regulatory region 15178 [Gene]
  • LOC123038192:Sharpr-MPRA regulatory region 1798 [Gene]
  • LOC112872296:Sharpr-MPRA regulatory region 2719 [Gene]
  • LOC123038179:Sharpr-MPRA regulatory region 2951 [Gene]
  • LOC123038174:Sharpr-MPRA regulatory region 3031 [Gene]
  • LOC123038171:Sharpr-MPRA regulatory region 3038 [Gene]
  • LOC112903838:Sharpr-MPRA regulatory region 3094 [Gene]
  • LOC112872298:Sharpr-MPRA regulatory region 3129 [Gene]
  • LOC123038169:Sharpr-MPRA regulatory region 387 [Gene]
  • LOC121048713:Sharpr-MPRA regulatory region 3980 [Gene]
  • LOC112903839:Sharpr-MPRA regulatory region 3993 [Gene]
  • LOC112872297:Sharpr-MPRA regulatory region 421 [Gene]
  • LOC112903837:Sharpr-MPRA regulatory region 4898 [Gene]
  • LOC121045485:Sharpr-MPRA regulatory region 5176 [Gene]
  • LOC121048711:Sharpr-MPRA regulatory region 6102 [Gene]
  • LOC123038180:Sharpr-MPRA regulatory region 6157 [Gene]
  • LOC112872299:Sharpr-MPRA regulatory region 6458 [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]
  • LOC123038178:Sharpr-MPRA regulatory region 8233 [Gene]
  • LOC121725155:Sharpr-MPRA regulatory region 8475 [Gene]
  • LOC123038184:Sharpr-MPRA regulatory region 8682 [Gene]
  • LOC112872300:Sharpr-MPRA regulatory region 8693 [Gene]
  • LOC123038173:Sharpr-MPRA regulatory region 8761 [Gene]
  • LOC123038181:Sharpr-MPRA regulatory region 9069 [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]
  • LOC111828514:Sharpr-MPRA regulatory regions 1012 and 11425 [Gene]
  • LOC123038175:Sharpr-MPRA regulatory regions 13692 and 14760 [Gene]
  • LOC121048710:Sharpr-MPRA regulatory regions 684 and 10996 [Gene]
  • LOC121045486:Sharpr-MPRA regulatory regions 9818 and 11773 [Gene]
  • TMCC1-DT:TMCC1 divergent transcript [Gene - HGNC]
  • TMEM108-AS1:TMEM108 antisense RNA 1 [Gene - HGNC]
  • 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]
  • ZXDC:ZXD family zinc finger C [Gene - OMIM - HGNC]
  • ACP3:acid phosphatase 3 [Gene - OMIM - HGNC]
  • ACAD11:acyl-CoA dehydrogenase family member 11 [Gene - OMIM - HGNC]
  • ACAD9:acyl-CoA dehydrogenase family member 9 [Gene - OMIM - HGNC]
  • ALDH1L1:aldehyde dehydrogenase 1 family member L1 [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]
  • ABTB1:ankyrin repeat and BTB domain containing 1 [Gene - OMIM - HGNC]
  • ARMC8:armadillo repeat containing 8 [Gene - OMIM - HGNC]
  • ASTE1:asteroid homolog 1 [Gene - OMIM - 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]
  • CHST13:carbohydrate sulfotransferase 13 [Gene - OMIM - HGNC]
  • CEP63:centrosomal protein 63 [Gene - OMIM - HGNC]
  • CEP70:centrosomal protein 70 [Gene - OMIM - HGNC]
  • C3orf22:chromosome 3 open reading frame 22 [Gene - HGNC]
  • C3orf36:chromosome 3 putative open reading frame 36 [Gene - HGNC]
  • CFAP100:cilia and flagella associated protein 100 [Gene - HGNC]
  • CFAP92:cilia and flagella associated protein 92 (putative) [Gene - HGNC]
  • CLDN18:claudin 18 [Gene - OMIM - HGNC]
  • CHCHD6:coiled-coil-helix-coiled-coil-helix domain containing 6 [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]
  • EEFSEC:eukaryotic elongation factor, selenocysteine-tRNA specific [Gene - OMIM - HGNC]
  • ESYT3:extended synaptotagmin 3 [Gene - OMIM - HGNC]
  • FOXL2:forkhead box L2 [Gene - OMIM - HGNC]
  • GP9:glycoprotein IX platelet [Gene - OMIM - HGNC]
  • IL20RB:interleukin 20 receptor subunit beta [Gene - OMIM - HGNC]
  • IFT122:intraflagellar transport 122 [Gene - OMIM - HGNC]
  • KBTBD12:kelch repeat and BTB domain containing 12 [Gene - 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]
  • LINC01471:long intergenic non-protein coding RNA 1471 [Gene - HGNC]
  • LINC01565:long intergenic non-protein coding RNA 1565 [Gene - OMIM - 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]
  • LINC02016:long intergenic non-protein coding RNA 2016 [Gene - HGNC]
  • LINC02021:long intergenic non-protein coding RNA 2021 [Gene - HGNC]
  • MBD4:methyl-CpG binding domain 4, DNA glycosylase [Gene - OMIM - HGNC]
  • MIR12124:microRNA 12124 [Gene - HGNC]
  • MIR4788:microRNA 4788 [Gene - HGNC]
  • MIR5704:microRNA 5704 [Gene - HGNC]
  • MIR6825:microRNA 6825 [Gene - HGNC]
  • MIR6826:microRNA 6826 [Gene - HGNC]
  • MIR6827:microRNA 6827 [Gene - HGNC]
  • MIR7976:microRNA 7976 [Gene - HGNC]
  • MCM2:minichromosome maintenance complex component 2 [Gene - OMIM - HGNC]
  • MRPL3:mitochondrial ribosomal protein L3 [Gene - OMIM - HGNC]
  • MRPS22:mitochondrial ribosomal protein S22 [Gene - OMIM - HGNC]
  • MGLL:monoglyceride lipase [Gene - OMIM - HGNC]
  • MRAS:muscle RAS oncogene homolog [Gene - OMIM - HGNC]
  • LOC108644431:myotonic dystrophy type 2 repeat instability region [Gene]
  • 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]
  • PLXNA1:plexin A1 [Gene - OMIM - HGNC]
  • PLXND1:plexin D1 [Gene - OMIM - HGNC]
  • PODXL2:podocalyxin like 2 [Gene - OMIM - HGNC]
  • PRR20G:proline rich 20G [Gene - 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]
  • RER:rhodopsin enhancer region [Gene]
  • RHO:rhodopsin [Gene - OMIM - HGNC]
  • RPN1:ribophorin I [Gene - OMIM - HGNC]
  • SNORA58:small nucleolar RNA, H/ACA box 58 [Gene - HGNC]
  • SNORA7B:small nucleolar RNA, H/ACA box 7B [Gene - HGNC]
  • SLC35G2:solute carrier family 35 member G2 [Gene - OMIM - HGNC]
  • SLCO2A1:solute carrier organic anion transporter family member 2A1 [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]
  • TXNRD3NB:thioredoxin reductase 3 neighbor [Gene - HGNC]
  • TXNRD3:thioredoxin reductase 3 [Gene - OMIM - HGNC]
  • TRH:thyrotropin releasing hormone [Gene - OMIM - HGNC]
  • TF:transferrin [Gene - OMIM - HGNC]
  • TMCC1:transmembrane and coiled-coil domain family 1 [Gene - OMIM - HGNC]
  • TMEM108:transmembrane protein 108 [Gene - OMIM - HGNC]
  • TPRA1:transmembrane protein adipocyte associated 1 [Gene - OMIM - HGNC]
  • TRIM42:tripartite motif containing 42 [Gene - OMIM - HGNC]
  • UBA5:ubiquitin like modifier activating enzyme 5 [Gene - OMIM - HGNC]
  • LOC101927432:uncharacterized LOC101927432 [Gene]
  • LOC105374114:uncharacterized LOC105374114 [Gene]
  • LOC90246:uncharacterized LOC90246 [Gene]
  • UROC1:urocanate hydratase 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3q21.3-23
Genomic location:
Preferred name:
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3
HGVS:
  • NC_000003.12:g.(?_126106779)_(140918089_?)dup
  • NC_000003.11:g.(?_125825622)_(140636931_?)dup
Links:
dbVar: nssv3394915; dbVar: nsv995717
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
SCV000183144ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Aug 19, 2013) 		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, SCV000183144.4

#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