GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 AND See cases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 30, 2011
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000141141.5
Allele description [Variation Report for GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3]
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3
- Genes:
- LOC130058668:ATAC-STARR-seq lymphoblastoid active region 10589 [Gene]
- LOC130058669:ATAC-STARR-seq lymphoblastoid active region 10590 [Gene]
- LOC130058670:ATAC-STARR-seq lymphoblastoid active region 10591 [Gene]
- LOC130058671:ATAC-STARR-seq lymphoblastoid active region 10592 [Gene]
- LOC130058672:ATAC-STARR-seq lymphoblastoid active region 10593 [Gene]
- LOC130058673:ATAC-STARR-seq lymphoblastoid active region 10594 [Gene]
- LOC130058674:ATAC-STARR-seq lymphoblastoid active region 10595 [Gene]
- LOC130058676:ATAC-STARR-seq lymphoblastoid active region 10596 [Gene]
- LOC130058677:ATAC-STARR-seq lymphoblastoid active region 10597 [Gene]
- LOC130058678:ATAC-STARR-seq lymphoblastoid active region 10598 [Gene]
- LOC130058679:ATAC-STARR-seq lymphoblastoid active region 10599 [Gene]
- LOC130058680:ATAC-STARR-seq lymphoblastoid active region 10600 [Gene]
- LOC130058682:ATAC-STARR-seq lymphoblastoid active region 10601 [Gene]
- LOC130058683:ATAC-STARR-seq lymphoblastoid active region 10602 [Gene]
- LOC130058686:ATAC-STARR-seq lymphoblastoid active region 10605 [Gene]
- LOC130058687:ATAC-STARR-seq lymphoblastoid active region 10606 [Gene]
- LOC130058689:ATAC-STARR-seq lymphoblastoid active region 10607 [Gene]
- LOC130058690:ATAC-STARR-seq lymphoblastoid active region 10608 [Gene]
- LOC130058692:ATAC-STARR-seq lymphoblastoid active region 10609 [Gene]
- LOC130058693:ATAC-STARR-seq lymphoblastoid active region 10610 [Gene]
- LOC130058694:ATAC-STARR-seq lymphoblastoid active region 10611 [Gene]
- LOC130058696:ATAC-STARR-seq lymphoblastoid active region 10612 [Gene]
- LOC130058697:ATAC-STARR-seq lymphoblastoid active region 10613 [Gene]
- LOC130058698:ATAC-STARR-seq lymphoblastoid active region 10614 [Gene]
- LOC130058702:ATAC-STARR-seq lymphoblastoid active region 10615 [Gene]
- LOC130058704:ATAC-STARR-seq lymphoblastoid active region 10616 [Gene]
- LOC130058705:ATAC-STARR-seq lymphoblastoid active region 10617 [Gene]
- LOC130058706:ATAC-STARR-seq lymphoblastoid active region 10618 [Gene]
- LOC130058708:ATAC-STARR-seq lymphoblastoid active region 10622 [Gene]
- LOC130058709:ATAC-STARR-seq lymphoblastoid active region 10623 [Gene]
- LOC130058710:ATAC-STARR-seq lymphoblastoid active region 10624 [Gene]
- LOC130058711:ATAC-STARR-seq lymphoblastoid active region 10625 [Gene]
- LOC130058712:ATAC-STARR-seq lymphoblastoid active region 10626 [Gene]
- LOC130058713:ATAC-STARR-seq lymphoblastoid active region 10627 [Gene]
- LOC130058714:ATAC-STARR-seq lymphoblastoid active region 10630 [Gene]
- LOC130058715:ATAC-STARR-seq lymphoblastoid active region 10631 [Gene]
- LOC130058716:ATAC-STARR-seq lymphoblastoid active region 10632 [Gene]
- LOC130058717:ATAC-STARR-seq lymphoblastoid active region 10633 [Gene]
- LOC130058718:ATAC-STARR-seq lymphoblastoid active region 10634 [Gene]
- LOC130058719:ATAC-STARR-seq lymphoblastoid active region 10635 [Gene]
- LOC130058720:ATAC-STARR-seq lymphoblastoid active region 10636 [Gene]
- LOC130058721:ATAC-STARR-seq lymphoblastoid active region 10637 [Gene]
- LOC130058722:ATAC-STARR-seq lymphoblastoid active region 10638 [Gene]
- LOC130058724:ATAC-STARR-seq lymphoblastoid active region 10639 [Gene]
- LOC130058728:ATAC-STARR-seq lymphoblastoid active region 10641 [Gene]
- LOC130058729:ATAC-STARR-seq lymphoblastoid active region 10642 [Gene]
- LOC130058731:ATAC-STARR-seq lymphoblastoid active region 10643 [Gene]
- LOC130058735:ATAC-STARR-seq lymphoblastoid active region 10645 [Gene]
- LOC130058736:ATAC-STARR-seq lymphoblastoid active region 10646 [Gene]
- LOC130058738:ATAC-STARR-seq lymphoblastoid active region 10648 [Gene]
- LOC130058739:ATAC-STARR-seq lymphoblastoid active region 10649 [Gene]
- LOC130058742:ATAC-STARR-seq lymphoblastoid active region 10650 [Gene]
- LOC130058743:ATAC-STARR-seq lymphoblastoid active region 10651 [Gene]
- LOC130058746:ATAC-STARR-seq lymphoblastoid active region 10652 [Gene]
- LOC130058747:ATAC-STARR-seq lymphoblastoid active region 10653 [Gene]
- LOC130058748:ATAC-STARR-seq lymphoblastoid active region 10654 [Gene]
- LOC130058754:ATAC-STARR-seq lymphoblastoid active region 10655 [Gene]
- LOC130058755:ATAC-STARR-seq lymphoblastoid active region 10656 [Gene]
- LOC130058757:ATAC-STARR-seq lymphoblastoid active region 10657 [Gene]
- LOC130058760:ATAC-STARR-seq lymphoblastoid active region 10658 [Gene]
- LOC130058761:ATAC-STARR-seq lymphoblastoid active region 10659 [Gene]
- LOC130058762:ATAC-STARR-seq lymphoblastoid active region 10660 [Gene]
- LOC130058763:ATAC-STARR-seq lymphoblastoid active region 10661 [Gene]
- LOC130058764:ATAC-STARR-seq lymphoblastoid active region 10662 [Gene]
- LOC130058765:ATAC-STARR-seq lymphoblastoid active region 10663 [Gene]
- LOC130058766:ATAC-STARR-seq lymphoblastoid active region 10664 [Gene]
- LOC130058769:ATAC-STARR-seq lymphoblastoid active region 10665 [Gene]
- LOC130058770:ATAC-STARR-seq lymphoblastoid active region 10667 [Gene]
- LOC130058772:ATAC-STARR-seq lymphoblastoid active region 10668 [Gene]
- LOC130058773:ATAC-STARR-seq lymphoblastoid active region 10669 [Gene]
- LOC130058774:ATAC-STARR-seq lymphoblastoid active region 10670 [Gene]
- LOC130058775:ATAC-STARR-seq lymphoblastoid active region 10671 [Gene]
- LOC130058777:ATAC-STARR-seq lymphoblastoid active region 10672 [Gene]
- LOC130058778:ATAC-STARR-seq lymphoblastoid active region 10673 [Gene]
- LOC130058780:ATAC-STARR-seq lymphoblastoid active region 10674 [Gene]
- LOC130058781:ATAC-STARR-seq lymphoblastoid active region 10675 [Gene]
- LOC130058783:ATAC-STARR-seq lymphoblastoid active region 10676 [Gene]
- LOC130058787:ATAC-STARR-seq lymphoblastoid active region 10677 [Gene]
- LOC130058790:ATAC-STARR-seq lymphoblastoid active region 10679 [Gene]
- LOC130058792:ATAC-STARR-seq lymphoblastoid active region 10680 [Gene]
- LOC130058793:ATAC-STARR-seq lymphoblastoid active region 10682 [Gene]
- LOC130058794:ATAC-STARR-seq lymphoblastoid active region 10683 [Gene]
- LOC130058799:ATAC-STARR-seq lymphoblastoid active region 10684 [Gene]
- LOC130058802:ATAC-STARR-seq lymphoblastoid active region 10686 [Gene]
- LOC130058803:ATAC-STARR-seq lymphoblastoid active region 10687 [Gene]
- LOC130058808:ATAC-STARR-seq lymphoblastoid active region 10688 [Gene]
- LOC130058810:ATAC-STARR-seq lymphoblastoid active region 10689 [Gene]
- LOC130058812:ATAC-STARR-seq lymphoblastoid active region 10690 [Gene]
- LOC130058814:ATAC-STARR-seq lymphoblastoid active region 10691 [Gene]
- LOC130058815:ATAC-STARR-seq lymphoblastoid active region 10692 [Gene]
- LOC130058816:ATAC-STARR-seq lymphoblastoid active region 10693 [Gene]
- LOC130058819:ATAC-STARR-seq lymphoblastoid active region 10695 [Gene]
- LOC130058822:ATAC-STARR-seq lymphoblastoid active region 10696 [Gene]
- LOC130058826:ATAC-STARR-seq lymphoblastoid active region 10700 [Gene]
- LOC130058834:ATAC-STARR-seq lymphoblastoid active region 10701 [Gene]
- LOC130058835:ATAC-STARR-seq lymphoblastoid active region 10702 [Gene]
- LOC130058836:ATAC-STARR-seq lymphoblastoid active region 10706 [Gene]
- LOC130058837:ATAC-STARR-seq lymphoblastoid active region 10708 [Gene]
- LOC130058841:ATAC-STARR-seq lymphoblastoid active region 10709 [Gene]
- LOC130058842:ATAC-STARR-seq lymphoblastoid active region 10710 [Gene]
- LOC130058844:ATAC-STARR-seq lymphoblastoid active region 10712 [Gene]
- LOC130058845:ATAC-STARR-seq lymphoblastoid active region 10713 [Gene]
- LOC130058846:ATAC-STARR-seq lymphoblastoid active region 10714 [Gene]
- LOC130058847:ATAC-STARR-seq lymphoblastoid active region 10715 [Gene]
- LOC130058856:ATAC-STARR-seq lymphoblastoid active region 10717 [Gene]
- LOC130058859:ATAC-STARR-seq lymphoblastoid active region 10718 [Gene]
- LOC130058860:ATAC-STARR-seq lymphoblastoid active region 10719 [Gene]
- LOC130058861:ATAC-STARR-seq lymphoblastoid active region 10720 [Gene]
- LOC130058863:ATAC-STARR-seq lymphoblastoid active region 10721 [Gene]
- LOC130058866:ATAC-STARR-seq lymphoblastoid active region 10722 [Gene]
- LOC130058867:ATAC-STARR-seq lymphoblastoid active region 10724 [Gene]
- LOC130058868:ATAC-STARR-seq lymphoblastoid active region 10727 [Gene]
- LOC130058869:ATAC-STARR-seq lymphoblastoid active region 10728 [Gene]
- LOC130058873:ATAC-STARR-seq lymphoblastoid active region 10730 [Gene]
- LOC130058874:ATAC-STARR-seq lymphoblastoid active region 10731 [Gene]
- LOC130058877:ATAC-STARR-seq lymphoblastoid active region 10736 [Gene]
- LOC130058882:ATAC-STARR-seq lymphoblastoid active region 10740 [Gene]
- LOC130058885:ATAC-STARR-seq lymphoblastoid active region 10742 [Gene]
- LOC130058886:ATAC-STARR-seq lymphoblastoid active region 10743 [Gene]
- LOC130058888:ATAC-STARR-seq lymphoblastoid active region 10745 [Gene]
- LOC130058889:ATAC-STARR-seq lymphoblastoid active region 10746 [Gene]
- LOC130058890:ATAC-STARR-seq lymphoblastoid active region 10747 [Gene]
- LOC130058891:ATAC-STARR-seq lymphoblastoid active region 10748 [Gene]
- LOC130058892:ATAC-STARR-seq lymphoblastoid active region 10749 [Gene]
- LOC130058895:ATAC-STARR-seq lymphoblastoid active region 10750 [Gene]
- LOC130058896:ATAC-STARR-seq lymphoblastoid active region 10751 [Gene]
- LOC130058897:ATAC-STARR-seq lymphoblastoid active region 10757 [Gene]
- LOC130058899:ATAC-STARR-seq lymphoblastoid active region 10758 [Gene]
- LOC130058900:ATAC-STARR-seq lymphoblastoid active region 10759 [Gene]
- LOC130058902:ATAC-STARR-seq lymphoblastoid active region 10761 [Gene]
- LOC130058903:ATAC-STARR-seq lymphoblastoid active region 10762 [Gene]
- LOC130058904:ATAC-STARR-seq lymphoblastoid active region 10763 [Gene]
- LOC130058905:ATAC-STARR-seq lymphoblastoid active region 10764 [Gene]
- LOC130058908:ATAC-STARR-seq lymphoblastoid active region 10766 [Gene]
- LOC130058911:ATAC-STARR-seq lymphoblastoid active region 10767 [Gene]
- LOC130058913:ATAC-STARR-seq lymphoblastoid active region 10768 [Gene]
- LOC130058675:ATAC-STARR-seq lymphoblastoid silent region 7285 [Gene]
- LOC130058681:ATAC-STARR-seq lymphoblastoid silent region 7288 [Gene]
- LOC130058684:ATAC-STARR-seq lymphoblastoid silent region 7293 [Gene]
- LOC130058685:ATAC-STARR-seq lymphoblastoid silent region 7294 [Gene]
- LOC130058688:ATAC-STARR-seq lymphoblastoid silent region 7296 [Gene]
- LOC130058691:ATAC-STARR-seq lymphoblastoid silent region 7297 [Gene]
- LOC130058695:ATAC-STARR-seq lymphoblastoid silent region 7298 [Gene]
- LOC130058699:ATAC-STARR-seq lymphoblastoid silent region 7299 [Gene]
- LOC130058700:ATAC-STARR-seq lymphoblastoid silent region 7301 [Gene]
- LOC130058701:ATAC-STARR-seq lymphoblastoid silent region 7302 [Gene]
- LOC130058703:ATAC-STARR-seq lymphoblastoid silent region 7303 [Gene]
- LOC130058707:ATAC-STARR-seq lymphoblastoid silent region 7304 [Gene]
- LOC130058723:ATAC-STARR-seq lymphoblastoid silent region 7305 [Gene]
- LOC130058725:ATAC-STARR-seq lymphoblastoid silent region 7307 [Gene]
- LOC130058726:ATAC-STARR-seq lymphoblastoid silent region 7308 [Gene]
- LOC130058727:ATAC-STARR-seq lymphoblastoid silent region 7309 [Gene]
- LOC130058730:ATAC-STARR-seq lymphoblastoid silent region 7310 [Gene]
- LOC130058732:ATAC-STARR-seq lymphoblastoid silent region 7311 [Gene]
- LOC130058733:ATAC-STARR-seq lymphoblastoid silent region 7312 [Gene]
- LOC130058734:ATAC-STARR-seq lymphoblastoid silent region 7313 [Gene]
- LOC130058737:ATAC-STARR-seq lymphoblastoid silent region 7314 [Gene]
- LOC130058740:ATAC-STARR-seq lymphoblastoid silent region 7315 [Gene]
- LOC130058741:ATAC-STARR-seq lymphoblastoid silent region 7316 [Gene]
- LOC130058744:ATAC-STARR-seq lymphoblastoid silent region 7317 [Gene]
- LOC130058745:ATAC-STARR-seq lymphoblastoid silent region 7318 [Gene]
- LOC130058749:ATAC-STARR-seq lymphoblastoid silent region 7321 [Gene]
- LOC130058750:ATAC-STARR-seq lymphoblastoid silent region 7322 [Gene]
- LOC130058751:ATAC-STARR-seq lymphoblastoid silent region 7323 [Gene]
- LOC130058752:ATAC-STARR-seq lymphoblastoid silent region 7324 [Gene]
- LOC130058753:ATAC-STARR-seq lymphoblastoid silent region 7325 [Gene]
- LOC130058756:ATAC-STARR-seq lymphoblastoid silent region 7326 [Gene]
- LOC130058758:ATAC-STARR-seq lymphoblastoid silent region 7327 [Gene]
- LOC130058759:ATAC-STARR-seq lymphoblastoid silent region 7328 [Gene]
- LOC130058767:ATAC-STARR-seq lymphoblastoid silent region 7329 [Gene]
- LOC130058768:ATAC-STARR-seq lymphoblastoid silent region 7330 [Gene]
- LOC130058771:ATAC-STARR-seq lymphoblastoid silent region 7331 [Gene]
- LOC130058776:ATAC-STARR-seq lymphoblastoid silent region 7332 [Gene]
- LOC130058779:ATAC-STARR-seq lymphoblastoid silent region 7333 [Gene]
- LOC130058782:ATAC-STARR-seq lymphoblastoid silent region 7334 [Gene]
- LOC130058784:ATAC-STARR-seq lymphoblastoid silent region 7335 [Gene]
- LOC130058785:ATAC-STARR-seq lymphoblastoid silent region 7336 [Gene]
- LOC130058786:ATAC-STARR-seq lymphoblastoid silent region 7337 [Gene]
- LOC130058788:ATAC-STARR-seq lymphoblastoid silent region 7338 [Gene]
- LOC130058789:ATAC-STARR-seq lymphoblastoid silent region 7339 [Gene]
- LOC130058791:ATAC-STARR-seq lymphoblastoid silent region 7340 [Gene]
- LOC130058795:ATAC-STARR-seq lymphoblastoid silent region 7341 [Gene]
- LOC130058796:ATAC-STARR-seq lymphoblastoid silent region 7342 [Gene]
- LOC130058797:ATAC-STARR-seq lymphoblastoid silent region 7343 [Gene]
- LOC130058798:ATAC-STARR-seq lymphoblastoid silent region 7344 [Gene]
- LOC130058800:ATAC-STARR-seq lymphoblastoid silent region 7345 [Gene]
- LOC130058801:ATAC-STARR-seq lymphoblastoid silent region 7346 [Gene]
- LOC130058804:ATAC-STARR-seq lymphoblastoid silent region 7347 [Gene]
- LOC130058805:ATAC-STARR-seq lymphoblastoid silent region 7348 [Gene]
- LOC130058806:ATAC-STARR-seq lymphoblastoid silent region 7349 [Gene]
- LOC130058807:ATAC-STARR-seq lymphoblastoid silent region 7350 [Gene]
- LOC130058809:ATAC-STARR-seq lymphoblastoid silent region 7351 [Gene]
- LOC130058811:ATAC-STARR-seq lymphoblastoid silent region 7352 [Gene]
- LOC130058813:ATAC-STARR-seq lymphoblastoid silent region 7356 [Gene]
- LOC130058817:ATAC-STARR-seq lymphoblastoid silent region 7357 [Gene]
- LOC130058818:ATAC-STARR-seq lymphoblastoid silent region 7358 [Gene]
- LOC130058820:ATAC-STARR-seq lymphoblastoid silent region 7361 [Gene]
- LOC130058821:ATAC-STARR-seq lymphoblastoid silent region 7362 [Gene]
- LOC130058823:ATAC-STARR-seq lymphoblastoid silent region 7363 [Gene]
- LOC130058824:ATAC-STARR-seq lymphoblastoid silent region 7364 [Gene]
- LOC130058825:ATAC-STARR-seq lymphoblastoid silent region 7365 [Gene]
- LOC130058827:ATAC-STARR-seq lymphoblastoid silent region 7367 [Gene]
- LOC130058828:ATAC-STARR-seq lymphoblastoid silent region 7368 [Gene]
- LOC130058829:ATAC-STARR-seq lymphoblastoid silent region 7369 [Gene]
- LOC130058830:ATAC-STARR-seq lymphoblastoid silent region 7370 [Gene]
- LOC130058831:ATAC-STARR-seq lymphoblastoid silent region 7371 [Gene]
- LOC130058832:ATAC-STARR-seq lymphoblastoid silent region 7372 [Gene]
- LOC130058833:ATAC-STARR-seq lymphoblastoid silent region 7373 [Gene]
- LOC130058838:ATAC-STARR-seq lymphoblastoid silent region 7375 [Gene]
- LOC130058839:ATAC-STARR-seq lymphoblastoid silent region 7376 [Gene]
- LOC130058840:ATAC-STARR-seq lymphoblastoid silent region 7377 [Gene]
- LOC130058843:ATAC-STARR-seq lymphoblastoid silent region 7378 [Gene]
- LOC130058848:ATAC-STARR-seq lymphoblastoid silent region 7379 [Gene]
- LOC130058849:ATAC-STARR-seq lymphoblastoid silent region 7380 [Gene]
- LOC130058850:ATAC-STARR-seq lymphoblastoid silent region 7381 [Gene]
- LOC130058851:ATAC-STARR-seq lymphoblastoid silent region 7382 [Gene]
- LOC130058852:ATAC-STARR-seq lymphoblastoid silent region 7383 [Gene]
- LOC130058853:ATAC-STARR-seq lymphoblastoid silent region 7384 [Gene]
- LOC130058854:ATAC-STARR-seq lymphoblastoid silent region 7385 [Gene]
- LOC130058855:ATAC-STARR-seq lymphoblastoid silent region 7386 [Gene]
- LOC130058857:ATAC-STARR-seq lymphoblastoid silent region 7387 [Gene]
- LOC130058858:ATAC-STARR-seq lymphoblastoid silent region 7388 [Gene]
- LOC130058862:ATAC-STARR-seq lymphoblastoid silent region 7389 [Gene]
- LOC130058864:ATAC-STARR-seq lymphoblastoid silent region 7391 [Gene]
- LOC130058865:ATAC-STARR-seq lymphoblastoid silent region 7392 [Gene]
- LOC130058870:ATAC-STARR-seq lymphoblastoid silent region 7394 [Gene]
- LOC130058871:ATAC-STARR-seq lymphoblastoid silent region 7395 [Gene]
- LOC130058872:ATAC-STARR-seq lymphoblastoid silent region 7396 [Gene]
- LOC130058875:ATAC-STARR-seq lymphoblastoid silent region 7398 [Gene]
- LOC130058876:ATAC-STARR-seq lymphoblastoid silent region 7399 [Gene]
- LOC130058878:ATAC-STARR-seq lymphoblastoid silent region 7400 [Gene]
- LOC130058879:ATAC-STARR-seq lymphoblastoid silent region 7401 [Gene]
- LOC130058880:ATAC-STARR-seq lymphoblastoid silent region 7402 [Gene]
- LOC130058881:ATAC-STARR-seq lymphoblastoid silent region 7403 [Gene]
- LOC130058883:ATAC-STARR-seq lymphoblastoid silent region 7405 [Gene]
- LOC130058884:ATAC-STARR-seq lymphoblastoid silent region 7406 [Gene]
- LOC130058887:ATAC-STARR-seq lymphoblastoid silent region 7407 [Gene]
- LOC130058893:ATAC-STARR-seq lymphoblastoid silent region 7411 [Gene]
- LOC130058894:ATAC-STARR-seq lymphoblastoid silent region 7412 [Gene]
- LOC130058898:ATAC-STARR-seq lymphoblastoid silent region 7416 [Gene]
- LOC130058901:ATAC-STARR-seq lymphoblastoid silent region 7417 [Gene]
- LOC130058906:ATAC-STARR-seq lymphoblastoid silent region 7419 [Gene]
- LOC130058907:ATAC-STARR-seq lymphoblastoid silent region 7421 [Gene]
- LOC130058909:ATAC-STARR-seq lymphoblastoid silent region 7424 [Gene]
- LOC130058910:ATAC-STARR-seq lymphoblastoid silent region 7425 [Gene]
- LOC130058912:ATAC-STARR-seq lymphoblastoid silent region 7426 [Gene]
- LOC130058914:ATAC-STARR-seq lymphoblastoid silent region 7427 [Gene]
- LOC130058915:ATAC-STARR-seq lymphoblastoid silent region 7429 [Gene]
- ATP2A1-AS1:ATP2A1 antisense RNA 1 [Gene - HGNC]
- ATP2A1:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [Gene - OMIM - HGNC]
- BCL7C:BAF chromatin remodeling complex subunit BCL7C [Gene - OMIM - HGNC]
- BOLA2-SMG1P6:BOLA2-SMG1P6 readthrough [Gene - HGNC]
- LOC126862317:BRD4-independent group 4 enhancer GRCh37_chr16:25580065-25581264 [Gene]
- LOC126862319:BRD4-independent group 4 enhancer GRCh37_chr16:25899968-25901167 [Gene]
- LOC126862325:BRD4-independent group 4 enhancer GRCh37_chr16:28030002-28031201 [Gene]
- LOC126862332:BRD4-independent group 4 enhancer GRCh37_chr16:31284654-31285853 [Gene]
- CD19:CD19 molecule [Gene - OMIM - HGNC]
- CD2BP2:CD2 cytoplasmic tail binding protein 2 [Gene - OMIM - HGNC]
- CD2BP2-DT:CD2BP2 divergent transcript [Gene - HGNC]
- CDIPTOSP:CDIP transferase opposite strand, pseudogene [Gene - HGNC]
- LOC126862321:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:27322486-27323685 [Gene]
- CDIPT:CDP-diacylglycerol--inositol 3-phosphatidyltransferase [Gene - OMIM - HGNC]
- CLN3:CLN3 lysosomal/endosomal transmembrane protein, battenin [Gene - OMIM - HGNC]
- CORO1A-AS1:CORO1A antisense RNA 1 [Gene - HGNC]
- LOC128462412:CRISPRi-FlowFISH-validated ITGAL regulatory element GRCh37_chr16:30483658-30484232 [Gene]
- LOC116276449:CRISPRi-validated cis-regulatory element chr16.1865 [Gene]
- LOC116276450:CRISPRi-validated cis-regulatory element chr16.1866 [Gene]
- LOC116276451:CRISPRi-validated cis-regulatory element chr16.1867 [Gene]
- LOC116276452:CRISPRi-validated cis-regulatory element chr16.2261 [Gene]
- FBXL19:F-box and leucine rich repeat protein 19 [Gene - OMIM - HGNC]
- FBXL19-AS1:FBXL19 antisense RNA 1 [Gene - HGNC]
- FUS:FUS RNA binding protein [Gene - OMIM - HGNC]
- LOC111365198:GATA motif-containing MPRA enhancer 73 [Gene]
- GSG1L:GSG1 like [Gene - OMIM - HGNC]
- HIRIP3:HIRA interacting protein 3 [Gene - OMIM - HGNC]
- IL21R-AS1:IL21R antisense RNA 1 [Gene - HGNC]
- INO80E:INO80 complex subunit E [Gene - HGNC]
- ITGAL-AS1:ITGAL antisense RNA 1 [Gene - HGNC]
- KRBOX5:KRAB box domain containing 5 [Gene - HGNC]
- LCMT1-AS1:LCMT1 antisense RNA 1 [Gene - HGNC]
- LCMT1-AS2:LCMT1 antisense RNA 2 [Gene - HGNC]
- LOC126862314:MED14-independent group 3 enhancer GRCh37_chr16:24257631-24258830 [Gene]
- LOC126862315:MED14-independent group 3 enhancer GRCh37_chr16:24392929-24394128 [Gene]
- LOC125146433:MED14-independent group 3 enhancer GRCh37_chr16:25564716-25565915 [Gene]
- LOC126862320:MED14-independent group 3 enhancer GRCh37_chr16:26137874-26139073 [Gene]
- LOC126862326:MED14-independent group 3 enhancer GRCh37_chr16:28549089-28550288 [Gene]
- LOC126862329:MED14-independent group 3 enhancer GRCh37_chr16:30752251-30753450 [Gene]
- LOC126862330:MED14-independent group 3 enhancer GRCh37_chr16:30771308-30772507 [Gene]
- LOC126862333:MED14-independent group 3 enhancer GRCh37_chr16:31295357-31296556 [Gene]
- LOC126862334:MED14-independent group 3 enhancer GRCh37_chr16:31549942-31551141 [Gene]
- MIR762HG:MIR762 host gene [Gene - HGNC]
- LOC129390774:MPRA-validated peak2534 silencer [Gene]
- LOC129390775:MPRA-validated peak2541 silencer [Gene]
- LOC129390776:MPRA-validated peak2542 silencer [Gene]
- LOC129390777:MPRA-validated peak2546 silencer [Gene]
- LOC129390778:MPRA-validated peak2549 silencer [Gene]
- LOC129390779:MPRA-validated peak2550 silencer [Gene]
- LOC129390780:MPRA-validated peak2552 silencer [Gene]
- LOC129390781:MPRA-validated peak2553 silencer [Gene]
- LOC129390782:MPRA-validated peak2554 silencer [Gene]
- LOC129390783:MPRA-validated peak2562 silencer [Gene]
- MVP-DT:MVP divergent transcript [Gene - HGNC]
- MAZ:MYC associated zinc finger protein [Gene - OMIM - HGNC]
- NFATC2IP-AS1:NFATC2IP antisense RNA 1 [Gene - HGNC]
- NSMCE1:NSE1 homolog, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
- NSMCE1-DT:NSMCE1 divergent transcript [Gene - HGNC]
- ORAI3:ORAI calcium release-activated calcium modulator 3 [Gene - OMIM - HGNC]
- LOC126862316:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:25453167-25454366 [Gene]
- LOC126862318:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:25644366-25645565 [Gene]
- LOC126862322:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:27376379-27377578 [Gene]
- LOC126862323:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:27780758-27781957 [Gene]
- LOC126862324:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:28004462-28005661 [Gene]
- LOC126862327:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:29166386-29167585 [Gene]
- LOC126862328:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:29196056-29197255 [Gene]
- LOC112352681:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:30365679-30366878 [Gene]
- LOC126862331:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:31276375-31277574 [Gene]
- LOC126862335:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:31888713-31889912 [Gene]
- PAGR1:PAXIP1 associated glutamate rich protein 1 [Gene - OMIM - HGNC]
- PYCARD-AS1:PYCARD antisense RNA 1 [Gene - HGNC]
- PYCARD:PYD and CARD domain containing [Gene - OMIM - HGNC]
- RBBP6:RB binding protein 6, ubiquitin ligase [Gene - OMIM - HGNC]
- LOC108281183:RRN3P2-SNX29P2 intergenic nontranscribed DNase I hypersensitive site-defined enhancer [Gene]
- RUSF1:RUS family member 1 [Gene - HGNC]
- RUSF1-DT:RUSF1 divergent transcript [Gene - HGNC]
- ARHGAP17:Rho GTPase activating protein 17 [Gene - OMIM - HGNC]
- SGF29:SAGA complex associated factor 29 [Gene - OMIM - HGNC]
- SETD1A:SET domain containing 1A, histone lysine methyltransferase [Gene - OMIM - HGNC]
- SH2B1:SH2B adaptor protein 1 [Gene - OMIM - HGNC]
- SBK1:SH3 domain binding kinase 1 [Gene - OMIM - HGNC]
- SLX1A:SLX1 homolog A, structure-specific endonuclease subunit [Gene - OMIM - HGNC]
- SLX1B:SLX1 homolog B, structure-specific endonuclease subunit [Gene - OMIM - HGNC]
- SLX1A-SULT1A3:SLX1A-SULT1A3 readthrough (NMD candidate) [Gene - HGNC]
- SLX1B-SULT1A4:SLX1B-SULT1A4 readthrough (NMD candidate) [Gene - HGNC]
- SPNS1:SPNS lysolipid transporter 1, lysophospholipid [Gene - OMIM - HGNC]
- LOC125146440:Sharpr-MPRA regulatory region 10200 [Gene]
- LOC125146436:Sharpr-MPRA regulatory region 11993 [Gene]
- LOC112340391:Sharpr-MPRA regulatory region 12060 [Gene]
- LOC125146439:Sharpr-MPRA regulatory region 12104 [Gene]
- LOC112352679:Sharpr-MPRA regulatory region 12377 [Gene]
- LOC121847977:Sharpr-MPRA regulatory region 13449 [Gene]
- LOC121847976:Sharpr-MPRA regulatory region 1439 [Gene]
- LOC121847980:Sharpr-MPRA regulatory region 15326 [Gene]
- LOC121587543:Sharpr-MPRA regulatory region 2047 [Gene]
- LOC125146432:Sharpr-MPRA regulatory region 2109 [Gene]
- LOC121847978:Sharpr-MPRA regulatory region 2626 [Gene]
- LOC121847979:Sharpr-MPRA regulatory region 3639 [Gene]
- LOC112441447:Sharpr-MPRA regulatory region 3948 [Gene]
- LOC112441446:Sharpr-MPRA regulatory region 39 [Gene]
- LOC112340393:Sharpr-MPRA regulatory region 4004 [Gene]
- LOC125146437:Sharpr-MPRA regulatory region 414 [Gene]
- LOC112340392:Sharpr-MPRA regulatory region 4245 [Gene]
- LOC121587537:Sharpr-MPRA regulatory region 5139 [Gene]
- LOC112352680:Sharpr-MPRA regulatory region 6067 [Gene]
- LOC125146435:Sharpr-MPRA regulatory region 6679 [Gene]
- LOC121587541:Sharpr-MPRA regulatory region 7413 [Gene]
- LOC121587538:Sharpr-MPRA regulatory region 7417 [Gene]
- LOC121847975:Sharpr-MPRA regulatory region 7462 [Gene]
- LOC121587542:Sharpr-MPRA regulatory region 7559 [Gene]
- LOC112441445:Sharpr-MPRA regulatory region 7881 [Gene]
- LOC121587540:Sharpr-MPRA regulatory region 8247 [Gene]
- LOC125146434:Sharpr-MPRA regulatory region 8309 [Gene]
- LOC125146431:Sharpr-MPRA regulatory region 8464 [Gene]
- LOC125146442:Sharpr-MPRA regulatory region 8694 [Gene]
- LOC125146438:Sharpr-MPRA regulatory region 8859 [Gene]
- LOC125146441:Sharpr-MPRA regulatory region 9068 [Gene]
- LOC121587535:Sharpr-MPRA regulatory region 9346 [Gene]
- LOC121587536:Sharpr-MPRA regulatory region 9783 [Gene]
- LOC112441444:Sharpr-MPRA regulatory region 9884 [Gene]
- LOC121587539:Sharpr-MPRA regulatory regions 5680 and 15498 [Gene]
- SRCAP:Snf2 related CREBBP activator protein [Gene - OMIM - HGNC]
- TBX6:T-box transcription factor 6 [Gene - OMIM - HGNC]
- TAOK2:TAO kinase 2 [Gene - OMIM - HGNC]
- TBC1D10B:TBC1 domain family member 10B [Gene - OMIM - HGNC]
- TLCD3B:TLC domain containing 3B [Gene - OMIM - HGNC]
- TUFM:Tu translation elongation factor, mitochondrial [Gene - OMIM - HGNC]
- YPEL3-DT:YPEL3 divergent transcript [Gene - HGNC]
- ZKSCAN2-DT:ZKSCAN2 divergent transcript [Gene - HGNC]
- ZNF747-DT:ZNF747 divergent transcript [Gene - HGNC]
- ALDOA:aldolase, fructose-bisphosphate A [Gene - OMIM - HGNC]
- AHSP:alpha hemoglobin stabilizing protein [Gene - OMIM - HGNC]
- APOBR:apolipoprotein B receptor [Gene - OMIM - HGNC]
- AQP8:aquaporin 8 [Gene - OMIM - HGNC]
- ARMC5:armadillo repeat containing 5 [Gene - OMIM - HGNC]
- ASPHD1:aspartate beta-hydroxylase domain containing 1 [Gene - HGNC]
- ATXN2L:ataxin 2 like [Gene - OMIM - HGNC]
- BOLA2:bolA family member 2 [Gene - OMIM - HGNC]
- BOLA2B:bolA family member 2B [Gene - HGNC]
- BCKDK:branched chain keto acid dehydrogenase kinase [Gene - OMIM - HGNC]
- CHP2:calcineurin like EF-hand protein 2 [Gene - HGNC]
- CACNG3:calcium voltage-gated channel auxiliary subunit gamma 3 [Gene - OMIM - HGNC]
- CTF1:cardiotrophin 1 [Gene - OMIM - HGNC]
- C16orf54:chromosome 16 open reading frame 54 [Gene - HGNC]
- C16orf82:chromosome 16 open reading frame 82 [Gene - HGNC]
- C16orf92:chromosome 16 open reading frame 92 [Gene - OMIM - HGNC]
- CFAP119:cilia and flagella associated protein 119 [Gene - OMIM - HGNC]
- CORO1A:coronin 1A [Gene - OMIM - HGNC]
- COX6A2:cytochrome c oxidase subunit 6A2 [Gene - OMIM - HGNC]
- DCTPP1:dCTP pyrophosphatase 1 [Gene - OMIM - HGNC]
- DOC2A:double C2 domain alpha [Gene - OMIM - HGNC]
- EIF3CL:eukaryotic translation initiation factor 3 subunit C like [Gene - HGNC]
- EIF3C:eukaryotic translation initiation factor 3 subunit C [Gene - OMIM - HGNC]
- XPO6:exportin 6 [Gene - OMIM - HGNC]
- FBRS:fibrosin [Gene - OMIM - HGNC]
- GTF3C1:general transcription factor IIIC subunit 1 [Gene - OMIM - HGNC]
- GDPD3:glycerophosphodiester phosphodiesterase domain containing 3 [Gene - OMIM - HGNC]
- HS3ST4:heparan sulfate-glucosamine 3-sulfotransferase 4 [Gene - OMIM - HGNC]
- HSD3B7:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [Gene - OMIM - HGNC]
- ITGAD:integrin subunit alpha D [Gene - OMIM - HGNC]
- ITGAL:integrin subunit alpha L [Gene - OMIM - HGNC]
- ITGAM:integrin subunit alpha M [Gene - OMIM - HGNC]
- ITGAX:integrin subunit alpha X [Gene - OMIM - HGNC]
- IL21R:interleukin 21 receptor [Gene - OMIM - HGNC]
- IL27:interleukin 27 [Gene - OMIM - HGNC]
- IL4R:interleukin 4 receptor [Gene - OMIM - HGNC]
- KATNIP:katanin interacting protein [Gene - OMIM - HGNC]
- KIF22:kinesin family member 22 [Gene - OMIM - HGNC]
- LCMT1:leucine carboxyl methyltransferase 1 [Gene - OMIM - HGNC]
- LAT:linker for activation of T cells [Gene - OMIM - HGNC]
- LINC01567:long intergenic non-protein coding RNA 1567 [Gene - HGNC]
- LINC02129:long intergenic non-protein coding RNA 2129 [Gene - HGNC]
- LINC02175:long intergenic non-protein coding RNA 2175 [Gene - HGNC]
- LINC02190:long intergenic non-protein coding RNA 2190 [Gene - HGNC]
- LINC02191:long intergenic non-protein coding RNA 2191 [Gene - HGNC]
- LINC02194:long intergenic non-protein coding RNA 2194 [Gene - HGNC]
- LINC02195:long intergenic non-protein coding RNA 2195 [Gene - HGNC]
- KAT8:lysine acetyltransferase 8 [Gene - OMIM - HGNC]
- KDM8:lysine demethylase 8 [Gene - OMIM - HGNC]
- MVP:major vault protein [Gene - OMIM - HGNC]
- MIR1273H:microRNA 1273h [Gene - HGNC]
- MIR3680-2:microRNA 3680-2 [Gene - HGNC]
- MIR4517:microRNA 4517 [Gene - HGNC]
- MIR4518:microRNA 4518 [Gene - HGNC]
- MIR4519:microRNA 4519 [Gene - HGNC]
- MIR4721:microRNA 4721 [Gene - HGNC]
- MIR548W:microRNA 548w [Gene - HGNC]
- MIR6862-1:microRNA 6862-1 [Gene - HGNC]
- MIR6862-2:microRNA 6862-2 [Gene - HGNC]
- MIR762:microRNA 762 [Gene - HGNC]
- MAPK3:mitogen-activated protein kinase 3 [Gene - OMIM - HGNC]
- MYL11:myosin light chain 11 [Gene - OMIM - HGNC]
- NFATC2IP:nuclear factor of activated T cells 2 interacting protein [Gene - OMIM - HGNC]
- NPIPB11:nuclear pore complex interacting protein family member B11 [Gene - HGNC]
- NPIPB12:nuclear pore complex interacting protein family member B12 [Gene - HGNC]
- NPIPB6:nuclear pore complex interacting protein family member B6 [Gene - HGNC]
- NPIPB7:nuclear pore complex interacting protein family member B7 [Gene - HGNC]
- NPIPB8:nuclear pore complex interacting protein family member B8 [Gene - HGNC]
- NPIPB9:nuclear pore complex interacting protein family member B9 [Gene - HGNC]
- NPIPB13:nuclear pore complex interacting protein family, member B13 [Gene - HGNC]
- NUPR1:nuclear protein 1, transcriptional regulator [Gene - OMIM - HGNC]
- PHKG2:phosphorylase kinase catalytic subunit gamma 2 [Gene - OMIM - HGNC]
- KCTD13:potassium channel tetramerization domain containing 13 [Gene - OMIM - HGNC]
- PRR14:proline rich 14 [Gene - OMIM - HGNC]
- PRRT2:proline rich transmembrane protein 2 [Gene - OMIM - HGNC]
- PRKCB:protein kinase C beta [Gene - OMIM - HGNC]
- PPP4C:protein phosphatase 4 catalytic subunit [Gene - OMIM - HGNC]
- PYDC1:pyrin domain containing 1 [Gene - OMIM - HGNC]
- QPRT:quinolinate phosphoribosyltransferase [Gene - OMIM - HGNC]
- RABEP2:rabaptin, RAB GTPase binding effector protein 2 [Gene - OMIM - HGNC]
- RNF40:ring finger protein 40 [Gene - OMIM - HGNC]
- SEZ6L2:seizure related 6 homolog like 2 [Gene - OMIM - HGNC]
- SEPHS2:selenophosphate synthetase 2 [Gene - OMIM - HGNC]
- SEPTIN1:septin 1 [Gene - OMIM - HGNC]
- PRSS36:serine protease 36 [Gene - OMIM - HGNC]
- PRSS53:serine protease 53 [Gene - OMIM - HGNC]
- PRSS8:serine protease 8 [Gene - OMIM - HGNC]
- SPN:sialophorin [Gene - OMIM - HGNC]
- SNORA30:small nucleolar RNA, H/ACA box 30 [Gene - HGNC]
- SNORA80C:small nucleolar RNA, H/ACA box 80C [Gene - HGNC]
- SLC5A11:solute carrier family 5 member 11 [Gene - OMIM - HGNC]
- SLC5A2:solute carrier family 5 member 2 [Gene - OMIM - HGNC]
- SULT1A1:sulfotransferase family 1A member 1 [Gene - OMIM - HGNC]
- SULT1A2:sulfotransferase family 1A member 2 [Gene - OMIM - HGNC]
- SULT1A3:sulfotransferase family 1A member 3 [Gene - OMIM - HGNC]
- SULT1A4:sulfotransferase family 1A member 4 [Gene - OMIM - HGNC]
- STX1B:syntaxin 1B [Gene - OMIM - HGNC]
- STX4:syntaxin 4 [Gene - OMIM - HGNC]
- TGFB1I1:transforming growth factor beta 1 induced transcript 1 [Gene - OMIM - HGNC]
- TMEM219:transmembrane protein 219 [Gene - OMIM - HGNC]
- TMEM265:transmembrane protein 265 [Gene - HGNC]
- TNRC6A:trinucleotide repeat containing adaptor 6A [Gene - OMIM - HGNC]
- TRIM72:tripartite motif containing 72 [Gene - OMIM - HGNC]
- LOC100128079:uncharacterized LOC100128079 [Gene]
- LOC101928188:uncharacterized LOC101928188 [Gene]
- LOC102723536:uncharacterized LOC102723536 [Gene]
- LOC102723708:uncharacterized LOC102723708 [Gene]
- LOC107983990:uncharacterized LOC107983990 [Gene]
- LOC730183:uncharacterized LOC730183 [Gene]
- LOC112694756:uncharaterized LOC112694756 [Gene]
- VKORC1:vitamin K epoxide reductase complex subunit 1 [Gene - OMIM - HGNC]
- VN1R3:vomeronasal 1 receptor 3 [Gene - HGNC]
- YPEL3:yippee like 3 [Gene - OMIM - HGNC]
- ZNF267:zinc finger protein 267 [Gene - OMIM - HGNC]
- ZNF48:zinc finger protein 48 [Gene - HGNC]
- ZNF629:zinc finger protein 629 [Gene - OMIM - HGNC]
- ZNF646:zinc finger protein 646 [Gene - OMIM - HGNC]
- ZNF668:zinc finger protein 668 [Gene - OMIM - HGNC]
- ZNF688:zinc finger protein 688 [Gene - HGNC]
- ZNF689:zinc finger protein 689 [Gene - OMIM - HGNC]
- ZNF747:zinc finger protein 747 [Gene - HGNC]
- ZNF764:zinc finger protein 764 [Gene - OMIM - HGNC]
- ZNF768:zinc finger protein 768 [Gene - OMIM - HGNC]
- ZNF771:zinc finger protein 771 [Gene - HGNC]
- ZNF785:zinc finger protein 785 [Gene - HGNC]
- ZNF843:zinc finger protein 843 [Gene - HGNC]
- ZKSCAN2:zinc finger with KRAB and SCAN domains 2 [Gene - HGNC]
- ZG16:zymogen granule protein 16 [Gene - OMIM - HGNC]
- Variant type:
- copy number gain
- Cytogenetic location:
- 16p12.2-11.2
- Genomic location:
- Preferred name:
- GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3
- HGVS:
- NC_000016.10:g.(?_23752047)_(31943755_?)dup
- NC_000016.9:g.(?_23763368)_(31955076_?)dup
This HGVS expression did not pass validation- Links:
- dbVar: nssv1608724; dbVar: nsv932526
- Observations:
- 1
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000182015 | GeneDx | no assertion criteria provided | Pathogenic (Apr 30, 2011) | not provided | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | not provided | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From GeneDx, SCV000182015.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | not provided | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided |
Last Updated: Oct 14, 2023