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GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 13, 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:
RCV000134894.6

Allele description

GRCh38/hg38 19p13.3(chr19:421537-2897921)x3

Genes:
  • ADAMTSL5:ADAMTS like 5 [Gene - HGNC]
  • LOC108783649:AMH 5' regulatory region [Gene]
  • APC2:APC regulator of WNT signaling pathway 2 [Gene - OMIM - HGNC]
  • ARID3A:AT-rich interaction domain 3A [Gene - OMIM - HGNC]
  • LOC130062821:ATAC-STARR-seq lymphoblastoid active region 13559 [Gene]
  • LOC130062822:ATAC-STARR-seq lymphoblastoid active region 13560 [Gene]
  • LOC130062823:ATAC-STARR-seq lymphoblastoid active region 13562 [Gene]
  • LOC130062824:ATAC-STARR-seq lymphoblastoid active region 13563 [Gene]
  • LOC130062825:ATAC-STARR-seq lymphoblastoid active region 13564 [Gene]
  • LOC130062831:ATAC-STARR-seq lymphoblastoid active region 13565 [Gene]
  • LOC130062832:ATAC-STARR-seq lymphoblastoid active region 13566 [Gene]
  • LOC130062835:ATAC-STARR-seq lymphoblastoid active region 13567 [Gene]
  • LOC130062837:ATAC-STARR-seq lymphoblastoid active region 13568 [Gene]
  • LOC130062838:ATAC-STARR-seq lymphoblastoid active region 13569 [Gene]
  • LOC130062839:ATAC-STARR-seq lymphoblastoid active region 13570 [Gene]
  • LOC130062845:ATAC-STARR-seq lymphoblastoid active region 13571 [Gene]
  • LOC130062849:ATAC-STARR-seq lymphoblastoid active region 13573 [Gene]
  • LOC130062861:ATAC-STARR-seq lymphoblastoid active region 13576 [Gene]
  • LOC130062874:ATAC-STARR-seq lymphoblastoid active region 13580 [Gene]
  • LOC130062877:ATAC-STARR-seq lymphoblastoid active region 13581 [Gene]
  • LOC130062879:ATAC-STARR-seq lymphoblastoid active region 13582 [Gene]
  • LOC130062880:ATAC-STARR-seq lymphoblastoid active region 13583 [Gene]
  • LOC130062881:ATAC-STARR-seq lymphoblastoid active region 13584 [Gene]
  • LOC130062882:ATAC-STARR-seq lymphoblastoid active region 13585 [Gene]
  • LOC130062883:ATAC-STARR-seq lymphoblastoid active region 13586 [Gene]
  • LOC130062884:ATAC-STARR-seq lymphoblastoid active region 13587 [Gene]
  • LOC130062885:ATAC-STARR-seq lymphoblastoid active region 13588 [Gene]
  • LOC130062889:ATAC-STARR-seq lymphoblastoid active region 13590 [Gene]
  • LOC130062890:ATAC-STARR-seq lymphoblastoid active region 13591 [Gene]
  • LOC130062891:ATAC-STARR-seq lymphoblastoid active region 13592 [Gene]
  • LOC130062893:ATAC-STARR-seq lymphoblastoid active region 13593 [Gene]
  • LOC130062896:ATAC-STARR-seq lymphoblastoid active region 13594 [Gene]
  • LOC130062897:ATAC-STARR-seq lymphoblastoid active region 13595 [Gene]
  • LOC130062898:ATAC-STARR-seq lymphoblastoid active region 13596 [Gene]
  • LOC130062899:ATAC-STARR-seq lymphoblastoid active region 13597 [Gene]
  • LOC130062901:ATAC-STARR-seq lymphoblastoid active region 13598 [Gene]
  • LOC130062902:ATAC-STARR-seq lymphoblastoid active region 13599 [Gene]
  • LOC130062905:ATAC-STARR-seq lymphoblastoid active region 13600 [Gene]
  • LOC130062918:ATAC-STARR-seq lymphoblastoid active region 13601 [Gene]
  • LOC130062919:ATAC-STARR-seq lymphoblastoid active region 13602 [Gene]
  • LOC130062922:ATAC-STARR-seq lymphoblastoid active region 13603 [Gene]
  • LOC130062923:ATAC-STARR-seq lymphoblastoid active region 13604 [Gene]
  • LOC130062924:ATAC-STARR-seq lymphoblastoid active region 13605 [Gene]
  • LOC130062925:ATAC-STARR-seq lymphoblastoid active region 13606 [Gene]
  • LOC130062926:ATAC-STARR-seq lymphoblastoid active region 13607 [Gene]
  • LOC130062934:ATAC-STARR-seq lymphoblastoid active region 13608 [Gene]
  • LOC130062935:ATAC-STARR-seq lymphoblastoid active region 13609 [Gene]
  • LOC130062938:ATAC-STARR-seq lymphoblastoid active region 13610 [Gene]
  • LOC130062943:ATAC-STARR-seq lymphoblastoid active region 13611 [Gene]
  • LOC130062944:ATAC-STARR-seq lymphoblastoid active region 13612 [Gene]
  • LOC130062960:ATAC-STARR-seq lymphoblastoid active region 13614 [Gene]
  • LOC130062972:ATAC-STARR-seq lymphoblastoid active region 13615 [Gene]
  • LOC130062975:ATAC-STARR-seq lymphoblastoid active region 13616 [Gene]
  • LOC130062976:ATAC-STARR-seq lymphoblastoid active region 13617 [Gene]
  • LOC130062977:ATAC-STARR-seq lymphoblastoid active region 13618 [Gene]
  • LOC130062978:ATAC-STARR-seq lymphoblastoid active region 13619 [Gene]
  • LOC130062979:ATAC-STARR-seq lymphoblastoid active region 13620 [Gene]
  • LOC130062980:ATAC-STARR-seq lymphoblastoid active region 13621 [Gene]
  • LOC130062984:ATAC-STARR-seq lymphoblastoid active region 13622 [Gene]
  • LOC130062985:ATAC-STARR-seq lymphoblastoid active region 13623 [Gene]
  • LOC130062987:ATAC-STARR-seq lymphoblastoid active region 13625 [Gene]
  • LOC130062988:ATAC-STARR-seq lymphoblastoid active region 13626 [Gene]
  • LOC130062990:ATAC-STARR-seq lymphoblastoid active region 13627 [Gene]
  • LOC130062991:ATAC-STARR-seq lymphoblastoid active region 13628 [Gene]
  • LOC130062992:ATAC-STARR-seq lymphoblastoid active region 13629 [Gene]
  • LOC130062994:ATAC-STARR-seq lymphoblastoid active region 13630 [Gene]
  • LOC130062998:ATAC-STARR-seq lymphoblastoid active region 13632 [Gene]
  • LOC130062999:ATAC-STARR-seq lymphoblastoid active region 13633 [Gene]
  • LOC130063000:ATAC-STARR-seq lymphoblastoid active region 13634 [Gene]
  • LOC130063003:ATAC-STARR-seq lymphoblastoid active region 13635 [Gene]
  • LOC130063004:ATAC-STARR-seq lymphoblastoid active region 13636 [Gene]
  • LOC130063007:ATAC-STARR-seq lymphoblastoid active region 13637 [Gene]
  • LOC130063008:ATAC-STARR-seq lymphoblastoid active region 13638 [Gene]
  • LOC130063012:ATAC-STARR-seq lymphoblastoid active region 13640 [Gene]
  • LOC130063014:ATAC-STARR-seq lymphoblastoid active region 13641 [Gene]
  • LOC130063016:ATAC-STARR-seq lymphoblastoid active region 13643 [Gene]
  • LOC130063017:ATAC-STARR-seq lymphoblastoid active region 13644 [Gene]
  • LOC130063018:ATAC-STARR-seq lymphoblastoid active region 13645 [Gene]
  • LOC130063019:ATAC-STARR-seq lymphoblastoid active region 13646 [Gene]
  • LOC130063020:ATAC-STARR-seq lymphoblastoid active region 13647 [Gene]
  • LOC130063021:ATAC-STARR-seq lymphoblastoid active region 13648 [Gene]
  • LOC130063022:ATAC-STARR-seq lymphoblastoid active region 13650 [Gene]
  • LOC130063023:ATAC-STARR-seq lymphoblastoid active region 13651 [Gene]
  • LOC130063024:ATAC-STARR-seq lymphoblastoid active region 13652 [Gene]
  • LOC130063025:ATAC-STARR-seq lymphoblastoid active region 13654 [Gene]
  • LOC130063026:ATAC-STARR-seq lymphoblastoid active region 13655 [Gene]
  • LOC130063027:ATAC-STARR-seq lymphoblastoid active region 13657 [Gene]
  • LOC130063028:ATAC-STARR-seq lymphoblastoid active region 13658 [Gene]
  • LOC130063033:ATAC-STARR-seq lymphoblastoid active region 13664 [Gene]
  • LOC130063034:ATAC-STARR-seq lymphoblastoid active region 13665 [Gene]
  • LOC130063039:ATAC-STARR-seq lymphoblastoid active region 13668 [Gene]
  • LOC130063040:ATAC-STARR-seq lymphoblastoid active region 13669 [Gene]
  • LOC130063041:ATAC-STARR-seq lymphoblastoid active region 13670 [Gene]
  • LOC130063042:ATAC-STARR-seq lymphoblastoid active region 13671 [Gene]
  • LOC130063046:ATAC-STARR-seq lymphoblastoid active region 13672 [Gene]
  • LOC130063047:ATAC-STARR-seq lymphoblastoid active region 13673 [Gene]
  • LOC130063050:ATAC-STARR-seq lymphoblastoid active region 13674 [Gene]
  • LOC130063051:ATAC-STARR-seq lymphoblastoid active region 13675 [Gene]
  • LOC130063055:ATAC-STARR-seq lymphoblastoid active region 13676 [Gene]
  • LOC130063056:ATAC-STARR-seq lymphoblastoid active region 13677 [Gene]
  • LOC130063057:ATAC-STARR-seq lymphoblastoid active region 13678 [Gene]
  • LOC130063058:ATAC-STARR-seq lymphoblastoid active region 13679 [Gene]
  • LOC130063060:ATAC-STARR-seq lymphoblastoid active region 13680 [Gene]
  • LOC130063061:ATAC-STARR-seq lymphoblastoid active region 13683 [Gene]
  • LOC130063062:ATAC-STARR-seq lymphoblastoid active region 13684 [Gene]
  • LOC129929036:ATAC-STARR-seq lymphoblastoid active region 13685 [Gene]
  • LOC130063068:ATAC-STARR-seq lymphoblastoid active region 13686 [Gene]
  • LOC130063071:ATAC-STARR-seq lymphoblastoid active region 13687 [Gene]
  • LOC130063072:ATAC-STARR-seq lymphoblastoid active region 13691 [Gene]
  • LOC130063073:ATAC-STARR-seq lymphoblastoid active region 13692 [Gene]
  • LOC130063074:ATAC-STARR-seq lymphoblastoid active region 13693 [Gene]
  • LOC130063075:ATAC-STARR-seq lymphoblastoid active region 13694 [Gene]
  • LOC130063079:ATAC-STARR-seq lymphoblastoid active region 13696 [Gene]
  • LOC130063080:ATAC-STARR-seq lymphoblastoid active region 13697 [Gene]
  • LOC130063081:ATAC-STARR-seq lymphoblastoid active region 13698 [Gene]
  • LOC130063082:ATAC-STARR-seq lymphoblastoid active region 13702 [Gene]
  • LOC130063083:ATAC-STARR-seq lymphoblastoid active region 13703 [Gene]
  • LOC130063084:ATAC-STARR-seq lymphoblastoid active region 13707 [Gene]
  • LOC130063086:ATAC-STARR-seq lymphoblastoid active region 13708 [Gene]
  • LOC130063087:ATAC-STARR-seq lymphoblastoid active region 13709 [Gene]
  • LOC130063088:ATAC-STARR-seq lymphoblastoid active region 13710 [Gene]
  • LOC130063089:ATAC-STARR-seq lymphoblastoid active region 13711 [Gene]
  • LOC130063090:ATAC-STARR-seq lymphoblastoid active region 13713 [Gene]
  • LOC130063092:ATAC-STARR-seq lymphoblastoid active region 13714 [Gene]
  • LOC130063093:ATAC-STARR-seq lymphoblastoid active region 13715 [Gene]
  • LOC130063094:ATAC-STARR-seq lymphoblastoid active region 13716 [Gene]
  • LOC130063096:ATAC-STARR-seq lymphoblastoid active region 13717 [Gene]
  • LOC130063099:ATAC-STARR-seq lymphoblastoid active region 13718 [Gene]
  • LOC130063101:ATAC-STARR-seq lymphoblastoid active region 13719 [Gene]
  • LOC130063104:ATAC-STARR-seq lymphoblastoid active region 13720 [Gene]
  • LOC130062818:ATAC-STARR-seq lymphoblastoid silent region 9600 [Gene]
  • LOC130062819:ATAC-STARR-seq lymphoblastoid silent region 9602 [Gene]
  • LOC130062820:ATAC-STARR-seq lymphoblastoid silent region 9605 [Gene]
  • LOC130062826:ATAC-STARR-seq lymphoblastoid silent region 9606 [Gene]
  • LOC130062827:ATAC-STARR-seq lymphoblastoid silent region 9607 [Gene]
  • LOC130062828:ATAC-STARR-seq lymphoblastoid silent region 9608 [Gene]
  • LOC130062829:ATAC-STARR-seq lymphoblastoid silent region 9609 [Gene]
  • LOC130062830:ATAC-STARR-seq lymphoblastoid silent region 9610 [Gene]
  • LOC130062833:ATAC-STARR-seq lymphoblastoid silent region 9611 [Gene]
  • LOC130062834:ATAC-STARR-seq lymphoblastoid silent region 9612 [Gene]
  • LOC130062836:ATAC-STARR-seq lymphoblastoid silent region 9613 [Gene]
  • LOC130062840:ATAC-STARR-seq lymphoblastoid silent region 9614 [Gene]
  • LOC130062841:ATAC-STARR-seq lymphoblastoid silent region 9615 [Gene]
  • LOC130062842:ATAC-STARR-seq lymphoblastoid silent region 9616 [Gene]
  • LOC130062843:ATAC-STARR-seq lymphoblastoid silent region 9617 [Gene]
  • LOC130062844:ATAC-STARR-seq lymphoblastoid silent region 9619 [Gene]
  • LOC130062846:ATAC-STARR-seq lymphoblastoid silent region 9621 [Gene]
  • LOC130062847:ATAC-STARR-seq lymphoblastoid silent region 9625 [Gene]
  • LOC130062848:ATAC-STARR-seq lymphoblastoid silent region 9626 [Gene]
  • LOC130062850:ATAC-STARR-seq lymphoblastoid silent region 9627 [Gene]
  • LOC130062851:ATAC-STARR-seq lymphoblastoid silent region 9628 [Gene]
  • LOC130062852:ATAC-STARR-seq lymphoblastoid silent region 9629 [Gene]
  • LOC130062853:ATAC-STARR-seq lymphoblastoid silent region 9630 [Gene]
  • LOC130062854:ATAC-STARR-seq lymphoblastoid silent region 9633 [Gene]
  • LOC130062855:ATAC-STARR-seq lymphoblastoid silent region 9634 [Gene]
  • LOC130062856:ATAC-STARR-seq lymphoblastoid silent region 9635 [Gene]
  • LOC130062857:ATAC-STARR-seq lymphoblastoid silent region 9636 [Gene]
  • LOC130062858:ATAC-STARR-seq lymphoblastoid silent region 9640 [Gene]
  • LOC130062859:ATAC-STARR-seq lymphoblastoid silent region 9641 [Gene]
  • LOC130062860:ATAC-STARR-seq lymphoblastoid silent region 9642 [Gene]
  • LOC130062862:ATAC-STARR-seq lymphoblastoid silent region 9644 [Gene]
  • LOC130062863:ATAC-STARR-seq lymphoblastoid silent region 9647 [Gene]
  • LOC130062864:ATAC-STARR-seq lymphoblastoid silent region 9648 [Gene]
  • LOC130062865:ATAC-STARR-seq lymphoblastoid silent region 9649 [Gene]
  • LOC130062866:ATAC-STARR-seq lymphoblastoid silent region 9650 [Gene]
  • LOC130062867:ATAC-STARR-seq lymphoblastoid silent region 9651 [Gene]
  • LOC130062868:ATAC-STARR-seq lymphoblastoid silent region 9652 [Gene]
  • LOC130062869:ATAC-STARR-seq lymphoblastoid silent region 9654 [Gene]
  • LOC130062870:ATAC-STARR-seq lymphoblastoid silent region 9655 [Gene]
  • LOC130062871:ATAC-STARR-seq lymphoblastoid silent region 9656 [Gene]
  • LOC130062872:ATAC-STARR-seq lymphoblastoid silent region 9658 [Gene]
  • LOC130062873:ATAC-STARR-seq lymphoblastoid silent region 9659 [Gene]
  • LOC130062875:ATAC-STARR-seq lymphoblastoid silent region 9660 [Gene]
  • LOC130062876:ATAC-STARR-seq lymphoblastoid silent region 9661 [Gene]
  • LOC130062878:ATAC-STARR-seq lymphoblastoid silent region 9662 [Gene]
  • LOC130062886:ATAC-STARR-seq lymphoblastoid silent region 9664 [Gene]
  • LOC130062887:ATAC-STARR-seq lymphoblastoid silent region 9665 [Gene]
  • LOC130062888:ATAC-STARR-seq lymphoblastoid silent region 9666 [Gene]
  • LOC130062892:ATAC-STARR-seq lymphoblastoid silent region 9667 [Gene]
  • LOC130062894:ATAC-STARR-seq lymphoblastoid silent region 9669 [Gene]
  • LOC130062895:ATAC-STARR-seq lymphoblastoid silent region 9670 [Gene]
  • LOC130062900:ATAC-STARR-seq lymphoblastoid silent region 9671 [Gene]
  • LOC130062903:ATAC-STARR-seq lymphoblastoid silent region 9673 [Gene]
  • LOC130062904:ATAC-STARR-seq lymphoblastoid silent region 9674 [Gene]
  • LOC130062906:ATAC-STARR-seq lymphoblastoid silent region 9675 [Gene]
  • LOC130062907:ATAC-STARR-seq lymphoblastoid silent region 9677 [Gene]
  • LOC130062908:ATAC-STARR-seq lymphoblastoid silent region 9678 [Gene]
  • LOC130062909:ATAC-STARR-seq lymphoblastoid silent region 9679 [Gene]
  • LOC130062910:ATAC-STARR-seq lymphoblastoid silent region 9680 [Gene]
  • LOC130062911:ATAC-STARR-seq lymphoblastoid silent region 9681 [Gene]
  • LOC130062912:ATAC-STARR-seq lymphoblastoid silent region 9682 [Gene]
  • LOC130062913:ATAC-STARR-seq lymphoblastoid silent region 9683 [Gene]
  • LOC130062914:ATAC-STARR-seq lymphoblastoid silent region 9685 [Gene]
  • LOC130062915:ATAC-STARR-seq lymphoblastoid silent region 9686 [Gene]
  • LOC130062916:ATAC-STARR-seq lymphoblastoid silent region 9687 [Gene]
  • LOC130062917:ATAC-STARR-seq lymphoblastoid silent region 9688 [Gene]
  • LOC130062920:ATAC-STARR-seq lymphoblastoid silent region 9689 [Gene]
  • LOC130062921:ATAC-STARR-seq lymphoblastoid silent region 9690 [Gene]
  • LOC130062927:ATAC-STARR-seq lymphoblastoid silent region 9691 [Gene]
  • LOC130062928:ATAC-STARR-seq lymphoblastoid silent region 9692 [Gene]
  • LOC130062929:ATAC-STARR-seq lymphoblastoid silent region 9693 [Gene]
  • LOC130062930:ATAC-STARR-seq lymphoblastoid silent region 9694 [Gene]
  • LOC130062931:ATAC-STARR-seq lymphoblastoid silent region 9695 [Gene]
  • LOC130062932:ATAC-STARR-seq lymphoblastoid silent region 9697 [Gene]
  • LOC130062933:ATAC-STARR-seq lymphoblastoid silent region 9698 [Gene]
  • LOC130062936:ATAC-STARR-seq lymphoblastoid silent region 9699 [Gene]
  • LOC130062937:ATAC-STARR-seq lymphoblastoid silent region 9700 [Gene]
  • LOC130062939:ATAC-STARR-seq lymphoblastoid silent region 9701 [Gene]
  • LOC130062940:ATAC-STARR-seq lymphoblastoid silent region 9704 [Gene]
  • LOC130062941:ATAC-STARR-seq lymphoblastoid silent region 9705 [Gene]
  • LOC130062942:ATAC-STARR-seq lymphoblastoid silent region 9706 [Gene]
  • LOC130062945:ATAC-STARR-seq lymphoblastoid silent region 9707 [Gene]
  • LOC130062946:ATAC-STARR-seq lymphoblastoid silent region 9708 [Gene]
  • LOC130062947:ATAC-STARR-seq lymphoblastoid silent region 9709 [Gene]
  • LOC130062948:ATAC-STARR-seq lymphoblastoid silent region 9710 [Gene]
  • LOC130062949:ATAC-STARR-seq lymphoblastoid silent region 9711 [Gene]
  • LOC130062950:ATAC-STARR-seq lymphoblastoid silent region 9712 [Gene]
  • LOC130062951:ATAC-STARR-seq lymphoblastoid silent region 9713 [Gene]
  • LOC130062952:ATAC-STARR-seq lymphoblastoid silent region 9714 [Gene]
  • LOC130062953:ATAC-STARR-seq lymphoblastoid silent region 9715 [Gene]
  • LOC130062954:ATAC-STARR-seq lymphoblastoid silent region 9716 [Gene]
  • LOC130062955:ATAC-STARR-seq lymphoblastoid silent region 9717 [Gene]
  • LOC130062956:ATAC-STARR-seq lymphoblastoid silent region 9718 [Gene]
  • LOC130062957:ATAC-STARR-seq lymphoblastoid silent region 9719 [Gene]
  • LOC130062958:ATAC-STARR-seq lymphoblastoid silent region 9720 [Gene]
  • LOC130062959:ATAC-STARR-seq lymphoblastoid silent region 9721 [Gene]
  • LOC130062961:ATAC-STARR-seq lymphoblastoid silent region 9722 [Gene]
  • LOC130062962:ATAC-STARR-seq lymphoblastoid silent region 9723 [Gene]
  • LOC130062963:ATAC-STARR-seq lymphoblastoid silent region 9724 [Gene]
  • LOC130062964:ATAC-STARR-seq lymphoblastoid silent region 9726 [Gene]
  • LOC130062965:ATAC-STARR-seq lymphoblastoid silent region 9727 [Gene]
  • LOC130062966:ATAC-STARR-seq lymphoblastoid silent region 9728 [Gene]
  • LOC130062967:ATAC-STARR-seq lymphoblastoid silent region 9729 [Gene]
  • LOC130062968:ATAC-STARR-seq lymphoblastoid silent region 9730 [Gene]
  • LOC130062969:ATAC-STARR-seq lymphoblastoid silent region 9731 [Gene]
  • LOC130062970:ATAC-STARR-seq lymphoblastoid silent region 9732 [Gene]
  • LOC130062971:ATAC-STARR-seq lymphoblastoid silent region 9733 [Gene]
  • LOC130062973:ATAC-STARR-seq lymphoblastoid silent region 9734 [Gene]
  • LOC130062974:ATAC-STARR-seq lymphoblastoid silent region 9735 [Gene]
  • LOC130062981:ATAC-STARR-seq lymphoblastoid silent region 9738 [Gene]
  • LOC130062982:ATAC-STARR-seq lymphoblastoid silent region 9739 [Gene]
  • LOC130062983:ATAC-STARR-seq lymphoblastoid silent region 9740 [Gene]
  • LOC130062986:ATAC-STARR-seq lymphoblastoid silent region 9741 [Gene]
  • LOC130062989:ATAC-STARR-seq lymphoblastoid silent region 9745 [Gene]
  • LOC130062993:ATAC-STARR-seq lymphoblastoid silent region 9747 [Gene]
  • LOC130062995:ATAC-STARR-seq lymphoblastoid silent region 9748 [Gene]
  • LOC130062996:ATAC-STARR-seq lymphoblastoid silent region 9749 [Gene]
  • LOC130062997:ATAC-STARR-seq lymphoblastoid silent region 9751 [Gene]
  • LOC130063001:ATAC-STARR-seq lymphoblastoid silent region 9753 [Gene]
  • LOC130063002:ATAC-STARR-seq lymphoblastoid silent region 9754 [Gene]
  • LOC130063005:ATAC-STARR-seq lymphoblastoid silent region 9755 [Gene]
  • LOC130063006:ATAC-STARR-seq lymphoblastoid silent region 9756 [Gene]
  • LOC130063009:ATAC-STARR-seq lymphoblastoid silent region 9757 [Gene]
  • LOC130063010:ATAC-STARR-seq lymphoblastoid silent region 9758 [Gene]
  • LOC130063011:ATAC-STARR-seq lymphoblastoid silent region 9759 [Gene]
  • LOC130063013:ATAC-STARR-seq lymphoblastoid silent region 9761 [Gene]
  • LOC130063015:ATAC-STARR-seq lymphoblastoid silent region 9762 [Gene]
  • LOC130063029:ATAC-STARR-seq lymphoblastoid silent region 9768 [Gene]
  • LOC130063030:ATAC-STARR-seq lymphoblastoid silent region 9769 [Gene]
  • LOC130063031:ATAC-STARR-seq lymphoblastoid silent region 9770 [Gene]
  • LOC130063032:ATAC-STARR-seq lymphoblastoid silent region 9771 [Gene]
  • LOC130063035:ATAC-STARR-seq lymphoblastoid silent region 9773 [Gene]
  • LOC130063036:ATAC-STARR-seq lymphoblastoid silent region 9774 [Gene]
  • LOC130063037:ATAC-STARR-seq lymphoblastoid silent region 9775 [Gene]
  • LOC130063038:ATAC-STARR-seq lymphoblastoid silent region 9776 [Gene]
  • LOC130063043:ATAC-STARR-seq lymphoblastoid silent region 9778 [Gene]
  • LOC130063044:ATAC-STARR-seq lymphoblastoid silent region 9779 [Gene]
  • LOC130063045:ATAC-STARR-seq lymphoblastoid silent region 9780 [Gene]
  • LOC130063048:ATAC-STARR-seq lymphoblastoid silent region 9781 [Gene]
  • LOC130063049:ATAC-STARR-seq lymphoblastoid silent region 9782 [Gene]
  • LOC130063052:ATAC-STARR-seq lymphoblastoid silent region 9783 [Gene]
  • LOC130063053:ATAC-STARR-seq lymphoblastoid silent region 9784 [Gene]
  • LOC130063054:ATAC-STARR-seq lymphoblastoid silent region 9785 [Gene]
  • LOC130063059:ATAC-STARR-seq lymphoblastoid silent region 9786 [Gene]
  • LOC130063063:ATAC-STARR-seq lymphoblastoid silent region 9789 [Gene]
  • LOC130063064:ATAC-STARR-seq lymphoblastoid silent region 9790 [Gene]
  • LOC130063065:ATAC-STARR-seq lymphoblastoid silent region 9791 [Gene]
  • LOC130063066:ATAC-STARR-seq lymphoblastoid silent region 9792 [Gene]
  • LOC130063067:ATAC-STARR-seq lymphoblastoid silent region 9793 [Gene]
  • LOC130063069:ATAC-STARR-seq lymphoblastoid silent region 9794 [Gene]
  • LOC130063070:ATAC-STARR-seq lymphoblastoid silent region 9795 [Gene]
  • LOC130063076:ATAC-STARR-seq lymphoblastoid silent region 9797 [Gene]
  • LOC130063077:ATAC-STARR-seq lymphoblastoid silent region 9798 [Gene]
  • LOC130063078:ATAC-STARR-seq lymphoblastoid silent region 9799 [Gene]
  • LOC130063085:ATAC-STARR-seq lymphoblastoid silent region 9803 [Gene]
  • LOC130063091:ATAC-STARR-seq lymphoblastoid silent region 9804 [Gene]
  • LOC130063095:ATAC-STARR-seq lymphoblastoid silent region 9805 [Gene]
  • LOC130063097:ATAC-STARR-seq lymphoblastoid silent region 9806 [Gene]
  • LOC130063098:ATAC-STARR-seq lymphoblastoid silent region 9807 [Gene]
  • LOC130063100:ATAC-STARR-seq lymphoblastoid silent region 9808 [Gene]
  • LOC130063102:ATAC-STARR-seq lymphoblastoid silent region 9809 [Gene]
  • LOC130063103:ATAC-STARR-seq lymphoblastoid silent region 9810 [Gene]
  • LOC130063105:ATAC-STARR-seq lymphoblastoid silent region 9812 [Gene]
  • LOC130063106:ATAC-STARR-seq lymphoblastoid silent region 9813 [Gene]
  • LOC130063107:ATAC-STARR-seq lymphoblastoid silent region 9814 [Gene]
  • LOC130063108:ATAC-STARR-seq lymphoblastoid silent region 9815 [Gene]
  • ABCA7:ATP binding cassette subfamily A member 7 [Gene - OMIM - HGNC]
  • ATP5F1D:ATP synthase F1 subunit delta [Gene - OMIM - HGNC]
  • ATP8B3:ATPase phospholipid transporting 8B3 [Gene - OMIM - HGNC]
  • LOC126862836:BRD4-independent group 4 enhancer GRCh37_chr19:428871-430070 [Gene]
  • BSG-AS1:BSG antisense RNA 1 [Gene - HGNC]
  • BTBD2:BTB domain containing 2 [Gene - OMIM - HGNC]
  • CBARP:CACN subunit beta associated regulatory protein [Gene - HGNC]
  • CBARP-DT:CBARP divergent transcript [Gene - HGNC]
  • LOC121627846:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:2168563-2169762 [Gene]
  • CIMAP1D:CIMAP1 family member D [Gene - HGNC]
  • CIRBP-AS1:CIRBP antisense RNA 1 [Gene - HGNC]
  • LOC116276494:CRISPRi-validated cis-regulatory element chr19.128 [Gene]
  • LOC116276495:CRISPRi-validated cis-regulatory element chr19.129 [Gene]
  • LOC116276496:CRISPRi-validated cis-regulatory element chr19.367 [Gene]
  • LOC116276497:CRISPRi-validated cis-regulatory element chr19.488 [Gene]
  • LOC116276498:CRISPRi-validated cis-regulatory element chr19.489 [Gene]
  • LOC116276493:CRISPRi-validated cis-regulatory element chr19.73 [Gene]
  • CSNK1G2-AS1:CSNK1G2 antisense RNA 1 [Gene - HGNC]
  • DAZAP1:DAZ associated protein 1 [Gene - OMIM - HGNC]
  • DIRAS1:DIRAS family GTPase 1 [Gene - OMIM - HGNC]
  • DOT1L:DOT1 like histone lysine methyltransferase [Gene - OMIM - HGNC]
  • GNG7:G protein subunit gamma 7 [Gene - OMIM - HGNC]
  • LOC108348031:GNG7 intron CAGE-defined B cell enhancer [Gene]
  • LOC111413035:HNF4 motif-containing MPRA enhancer 174 [Gene]
  • LOC111556134:HNF4 motif-containing MPRA enhancer 50 [Gene]
  • IZUMO4:IZUMO family member 4 [Gene - OMIM - HGNC]
  • KISS1R:KISS1 receptor [Gene - OMIM - HGNC]
  • KLF16:KLF transcription factor 16 [Gene - OMIM - HGNC]
  • LOC128900001:KLF16 promoter region [Gene]
  • LOC112543441:KLF16-I enhancer [Gene]
  • LSM7:LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated [Gene - OMIM - HGNC]
  • MADCAM1-AS1:MADCAM1 antisense RNA 1 [Gene - HGNC]
  • MKNK2:MAPK interacting serine/threonine kinase 2 [Gene - OMIM - HGNC]
  • MOB3A:MOB kinase activator 3A [Gene - HGNC]
  • LOC129391014:MPRA-validated peak3210 silencer [Gene]
  • LOC129391015:MPRA-validated peak3211 silencer [Gene]
  • LOC129391016:MPRA-validated peak3217 silencer [Gene]
  • LOC129391017:MPRA-validated peak3219 silencer [Gene]
  • LOC129391018:MPRA-validated peak3222 silencer [Gene]
  • LOC129391019:MPRA-validated peak3223 silencer [Gene]
  • LOC129391020:MPRA-validated peak3225 silencer [Gene]
  • LOC129391021:MPRA-validated peak3226 silencer [Gene]
  • LOC129391022:MPRA-validated peak3230 silencer [Gene]
  • LOC129391023:MPRA-validated peak3237 silencer [Gene]
  • LOC129391024:MPRA-validated peak3238 silencer [Gene]
  • LOC129391025:MPRA-validated peak3239 silencer [Gene]
  • NDUFS7:NADH:ubiquinone oxidoreductase core subunit S7 [Gene - OMIM - HGNC]
  • LOC132090902:Neanderthal introgressed variant-containing enhancer experimental_50734 [Gene]
  • LOC126862837:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:1177383-1178582 [Gene]
  • LOC126862838:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:1747113-1748312 [Gene]
  • LOC126862839:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:2626979-2628178 [Gene]
  • PEAK3:PEAK family member 3 [Gene - OMIM - HGNC]
  • PWWP3A:PWWP domain containing 3A, DNA repair factor [Gene - HGNC]
  • R3HDM4:R3H domain containing 4 [Gene - HGNC]
  • REXO1:RNA exonuclease 1 homolog [Gene - OMIM - HGNC]
  • POLR2E:RNA polymerase II, I and III subunit E [Gene - OMIM - HGNC]
  • POLRMT:RNA polymerase mitochondrial [Gene - OMIM - HGNC]
  • RNU6-2:RNA, U6 small nuclear 2 [Gene - HGNC]
  • RNU6-9:RNA, U6 small nuclear 9 [Gene - HGNC]
  • ARHGAP45:Rho GTPase activating protein 45 [Gene - OMIM - HGNC]
  • LOC108254692:SBNO2 intron CAGE-defined low expression enhancer [Gene]
  • SHC2:SHC adaptor protein 2 [Gene - OMIM - HGNC]
  • LOC121852971:Sharpr-MPRA regulatory region 10458 [Gene]
  • LOC125371446:Sharpr-MPRA regulatory region 12578 [Gene]
  • LOC125371447:Sharpr-MPRA regulatory region 13808 [Gene]
  • LOC112543443:Sharpr-MPRA regulatory region 13932 [Gene]
  • LOC121627844:Sharpr-MPRA regulatory region 14028 [Gene]
  • LOC125371448:Sharpr-MPRA regulatory region 1835 [Gene]
  • LOC113939966:Sharpr-MPRA regulatory region 2129 [Gene]
  • LOC121627847:Sharpr-MPRA regulatory region 2271 [Gene]
  • LOC112543477:Sharpr-MPRA regulatory region 3019 [Gene]
  • LOC121627845:Sharpr-MPRA regulatory region 3984 [Gene]
  • LOC112543475:Sharpr-MPRA regulatory region 4128 [Gene]
  • LOC112543476:Sharpr-MPRA regulatory region 4130 [Gene]
  • LOC125371449:Sharpr-MPRA regulatory region 4132 [Gene]
  • LOC125371444:Sharpr-MPRA regulatory region 4509 [Gene]
  • LOC112543439:Sharpr-MPRA regulatory region 734 [Gene]
  • LOC112543440:Sharpr-MPRA regulatory region 8340 [Gene]
  • LOC121627842:Sharpr-MPRA regulatory region 9324 [Gene]
  • LOC121627843:Sharpr-MPRA regulatory region 9448 [Gene]
  • WDR18:WD repeat domain 18 [Gene - OMIM - HGNC]
  • ABHD17A:abhydrolase domain containing 17A, depalmitoylase [Gene - OMIM - HGNC]
  • AP3D1:adaptor related protein complex 3 subunit delta 1 [Gene - OMIM - HGNC]
  • ADAT3:adenosine deaminase tRNA specific 3 [Gene - OMIM - HGNC]
  • AMH:anti-Mullerian hormone [Gene - OMIM - HGNC]
  • AZU1:azurocidin 1 [Gene - OMIM - HGNC]
  • BSG:basigin (Ok blood group) [Gene - OMIM - HGNC]
  • CNN2:calponin 2 [Gene - OMIM - HGNC]
  • CSNK1G2:casein kinase 1 gamma 2 [Gene - OMIM - HGNC]
  • CDC34:cell division cycle 34, ubiqiutin conjugating enzyme [Gene - OMIM - HGNC]
  • C19orf25:chromosome 19 open reading frame 25 [Gene - HGNC]
  • CIRBP:cold inducible RNA binding protein [Gene - OMIM - HGNC]
  • CFD:complement factor D [Gene - OMIM - HGNC]
  • ELANE:elastase, neutrophil expressed [Gene - OMIM - HGNC]
  • EFNA2:ephrin A2 [Gene - OMIM - HGNC]
  • FAM174C:family with sequence similarity 174 member C [Gene - HGNC]
  • FGF22:fibroblast growth factor 22 [Gene - OMIM - HGNC]
  • FSTL3:follistatin like 3 [Gene - OMIM - HGNC]
  • GRIN3B:glutamate ionotropic receptor NMDA type subunit 3B [Gene - OMIM - HGNC]
  • GPX4:glutathione peroxidase 4 [Gene - OMIM - HGNC]
  • GZMM:granzyme M [Gene - OMIM - HGNC]
  • GADD45B:growth arrest and DNA damage inducible beta [Gene - OMIM - HGNC]
  • GAMT:guanidinoacetate N-methyltransferase [Gene - OMIM - HGNC]
  • HCN2:hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 [Gene - OMIM - HGNC]
  • JSRP1:junctional sarcoplasmic reticulum protein 1 [Gene - OMIM - HGNC]
  • LMNB2:lamin B2 [Gene - OMIM - HGNC]
  • LINGO3:leucine rich repeat and Ig domain containing 3 [Gene - OMIM - HGNC]
  • LINC01775:long intergenic non-protein coding RNA 1775 [Gene - HGNC]
  • MED16:mediator complex subunit 16 [Gene - OMIM - HGNC]
  • MBD3:methyl-CpG binding domain protein 3 [Gene - OMIM - HGNC]
  • MEX3D:mex-3 RNA binding family member D [Gene - OMIM - HGNC]
  • MIR1227:microRNA 1227 [Gene - HGNC]
  • MIR1909:microRNA 1909 [Gene - OMIM - HGNC]
  • MIR3187:microRNA 3187 [Gene - HGNC]
  • MIR4321:microRNA 4321 [Gene - HGNC]
  • MIR4745:microRNA 4745 [Gene - HGNC]
  • MIR6789:microRNA 6789 [Gene - HGNC]
  • MIR7108:microRNA 7108 [Gene - HGNC]
  • MIR7850:microRNA 7850 [Gene - HGNC]
  • MIDN:midnolin [Gene - OMIM - HGNC]
  • MISP:mitotic spindle positioning [Gene - OMIM - HGNC]
  • MADCAM1:mucosal vascular addressin cell adhesion molecule 1 [Gene - OMIM - HGNC]
  • ONECUT3:one cut homeobox 3 [Gene - OMIM - HGNC]
  • LOC106804547:origin of replication adjacent to lamin B2 [Gene]
  • OAZ1:ornithine decarboxylase antizyme 1 [Gene - OMIM - HGNC]
  • PALM:paralemmin [Gene - OMIM - HGNC]
  • PLPPR3:phospholipid phosphatase related 3 [Gene - OMIM - HGNC]
  • PLEKHJ1:pleckstrin homology domain containing J1 [Gene - OMIM - HGNC]
  • PLK5:polo like kinase 5 (inactive) [Gene - HGNC]
  • PTBP1:polypyrimidine tract binding protein 1 [Gene - OMIM - HGNC]
  • PCSK4:proprotein convertase subtilisin/kexin type 4 [Gene - OMIM - HGNC]
  • PRTN3:proteinase 3 [Gene - OMIM - HGNC]
  • REEP6:receptor accessory protein 6 [Gene - OMIM - HGNC]
  • RPS15:ribosomal protein S15 [Gene - OMIM - HGNC]
  • RNF126:ring finger protein 126 [Gene - OMIM - HGNC]
  • SCAMP4:secretory carrier membrane protein 4 [Gene - OMIM - HGNC]
  • PRSS57:serine protease 57 [Gene - HGNC]
  • LOC110006317:serine/threonine kinase 11 intron 1 Alu-mediated recombination region [Gene]
  • LOC110006318:serine/threonine kinase 11 intron 3 Alu-mediated recombination region [Gene]
  • STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
  • SPPL2B:signal peptide peptidase like 2B [Gene - OMIM - HGNC]
  • SGTA:small glutamine rich tetratricopeptide repeat co-chaperone alpha [Gene - OMIM - HGNC]
  • SLC39A3:solute carrier family 39 member 3 [Gene - OMIM - HGNC]
  • SF3A2:splicing factor 3a subunit 2 [Gene - OMIM - HGNC]
  • SBNO2:strawberry notch homolog 2 [Gene - OMIM - HGNC]
  • TRN-GTT2-6:tRNA-Asn (anticodon GTT) 2-6 [Gene - HGNC]
  • TRF-GAA1-6:tRNA-Phe (anticodon GAA) 1-6 [Gene - HGNC]
  • THOP1:thimet oligopeptidase 1 [Gene - OMIM - HGNC]
  • TCF3:transcription factor 3 [Gene - OMIM - HGNC]
  • TIMM13:translocase of inner mitochondrial membrane 13 [Gene - OMIM - HGNC]
  • TMEM259:transmembrane protein 259 [Gene - OMIM - HGNC]
  • TMPRSS9:transmembrane serine protease 9 [Gene - OMIM - HGNC]
  • TPGS1:tubulin polyglutamylase complex subunit 1 [Gene - HGNC]
  • UQCR11:ubiquinol-cytochrome c reductase, complex III subunit XI [Gene - OMIM - HGNC]
  • LOC100288123:uncharacterized LOC100288123 [Gene]
  • LOC101928450:uncharacterized LOC101928450 [Gene]
  • ZNF554:zinc finger protein 554 [Gene - HGNC]
  • ZNF555:zinc finger protein 555 [Gene - HGNC]
  • ZNF556:zinc finger protein 556 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3
HGVS:
  • NC_000019.10:g.(?_421537)_(2897921_?)dup
  • NC_000019.8:g.(?_372537)_(2848919_?)dup
  • NC_000019.9:g.(?_421537)_(2897919_?)dup
Links:
dbVar: nssv584401; dbVar: nsv498022
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
SCV000174539ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Dec 13, 2010) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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, SCV000174539.4

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

Last Updated: Oct 14, 2023