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GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000051776.5

Allele description [Variation Report for GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3]

GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3

Genes:
  • PAPSS1:3'-phosphoadenosine 5'-phosphosulfate synthase 1 [Gene - OMIM - HGNC]
  • BDH2:3-hydroxybutyrate dehydrogenase 2 [Gene - HGNC]
  • LOC111216289:4E3 enhancer upstream of ADH4 [Gene]
  • LOC111216272:ADH1A promoter [Gene]
  • LOC111216273:ADH1B promoter [Gene]
  • LOC111188164:ADH1C promoter region [Gene]
  • LOC111216288:ADH4 promoter [Gene]
  • LOC111216290:ADH5 promoter [Gene]
  • LOC111216291:ADH6 promoter [Gene]
  • LOC111216292:ADH7 promoter [Gene]
  • AFG2A:AFG2 AAA ATPase homolog A [Gene - OMIM - HGNC]
  • AP1AR-DT:AP1AR divergent transcript [Gene - HGNC]
  • ARHGEF38-IT1:ARHGEF38 intronic transcript 1 [Gene - HGNC]
  • LOC129992847:ATAC-STARR-seq lymphoblastoid active region 21731 [Gene]
  • LOC129992848:ATAC-STARR-seq lymphoblastoid active region 21732 [Gene]
  • LOC129992851:ATAC-STARR-seq lymphoblastoid active region 21734 [Gene]
  • LOC129992852:ATAC-STARR-seq lymphoblastoid active region 21735 [Gene]
  • LOC129992855:ATAC-STARR-seq lymphoblastoid active region 21736 [Gene]
  • LOC129992857:ATAC-STARR-seq lymphoblastoid active region 21737 [Gene]
  • LOC129992858:ATAC-STARR-seq lymphoblastoid active region 21741 [Gene]
  • LOC129992860:ATAC-STARR-seq lymphoblastoid active region 21742 [Gene]
  • LOC129992864:ATAC-STARR-seq lymphoblastoid active region 21745 [Gene]
  • LOC129992865:ATAC-STARR-seq lymphoblastoid active region 21746 [Gene]
  • LOC129992867:ATAC-STARR-seq lymphoblastoid active region 21747 [Gene]
  • LOC129992869:ATAC-STARR-seq lymphoblastoid active region 21748 [Gene]
  • LOC129992873:ATAC-STARR-seq lymphoblastoid active region 21749 [Gene]
  • LOC129992875:ATAC-STARR-seq lymphoblastoid active region 21750 [Gene]
  • LOC129992877:ATAC-STARR-seq lymphoblastoid active region 21751 [Gene]
  • LOC129992878:ATAC-STARR-seq lymphoblastoid active region 21752 [Gene]
  • LOC129992881:ATAC-STARR-seq lymphoblastoid active region 21753 [Gene]
  • LOC129992882:ATAC-STARR-seq lymphoblastoid active region 21754 [Gene]
  • LOC129992884:ATAC-STARR-seq lymphoblastoid active region 21755 [Gene]
  • LOC129992885:ATAC-STARR-seq lymphoblastoid active region 21756 [Gene]
  • LOC129992886:ATAC-STARR-seq lymphoblastoid active region 21757 [Gene]
  • LOC129992888:ATAC-STARR-seq lymphoblastoid active region 21760 [Gene]
  • LOC129992889:ATAC-STARR-seq lymphoblastoid active region 21761 [Gene]
  • LOC129992890:ATAC-STARR-seq lymphoblastoid active region 21762 [Gene]
  • LOC129992894:ATAC-STARR-seq lymphoblastoid active region 21763 [Gene]
  • LOC129992895:ATAC-STARR-seq lymphoblastoid active region 21764 [Gene]
  • LOC129992896:ATAC-STARR-seq lymphoblastoid active region 21765 [Gene]
  • LOC129992897:ATAC-STARR-seq lymphoblastoid active region 21767 [Gene]
  • LOC129992898:ATAC-STARR-seq lymphoblastoid active region 21768 [Gene]
  • LOC129992899:ATAC-STARR-seq lymphoblastoid active region 21769 [Gene]
  • LOC129992901:ATAC-STARR-seq lymphoblastoid active region 21770 [Gene]
  • LOC129992902:ATAC-STARR-seq lymphoblastoid active region 21771 [Gene]
  • LOC129992903:ATAC-STARR-seq lymphoblastoid active region 21772 [Gene]
  • LOC129992904:ATAC-STARR-seq lymphoblastoid active region 21773 [Gene]
  • LOC129992905:ATAC-STARR-seq lymphoblastoid active region 21774 [Gene]
  • LOC129992906:ATAC-STARR-seq lymphoblastoid active region 21775 [Gene]
  • LOC129992907:ATAC-STARR-seq lymphoblastoid active region 21776 [Gene]
  • LOC129992909:ATAC-STARR-seq lymphoblastoid active region 21777 [Gene]
  • LOC129992910:ATAC-STARR-seq lymphoblastoid active region 21778 [Gene]
  • LOC129992912:ATAC-STARR-seq lymphoblastoid active region 21779 [Gene]
  • LOC129992913:ATAC-STARR-seq lymphoblastoid active region 21780 [Gene]
  • LOC129992914:ATAC-STARR-seq lymphoblastoid active region 21781 [Gene]
  • LOC129992916:ATAC-STARR-seq lymphoblastoid active region 21782 [Gene]
  • LOC129992917:ATAC-STARR-seq lymphoblastoid active region 21783 [Gene]
  • LOC129992918:ATAC-STARR-seq lymphoblastoid active region 21784 [Gene]
  • LOC129992922:ATAC-STARR-seq lymphoblastoid active region 21785 [Gene]
  • LOC129992923:ATAC-STARR-seq lymphoblastoid active region 21786 [Gene]
  • LOC129992924:ATAC-STARR-seq lymphoblastoid active region 21787 [Gene]
  • LOC129992925:ATAC-STARR-seq lymphoblastoid active region 21788 [Gene]
  • LOC129992926:ATAC-STARR-seq lymphoblastoid active region 21789 [Gene]
  • LOC129992928:ATAC-STARR-seq lymphoblastoid active region 21790 [Gene]
  • LOC129992929:ATAC-STARR-seq lymphoblastoid active region 21791 [Gene]
  • LOC129992930:ATAC-STARR-seq lymphoblastoid active region 21792 [Gene]
  • LOC129992932:ATAC-STARR-seq lymphoblastoid active region 21793 [Gene]
  • LOC129992933:ATAC-STARR-seq lymphoblastoid active region 21794 [Gene]
  • LOC129992935:ATAC-STARR-seq lymphoblastoid active region 21795 [Gene]
  • LOC129992936:ATAC-STARR-seq lymphoblastoid active region 21796 [Gene]
  • LOC129992940:ATAC-STARR-seq lymphoblastoid active region 21797 [Gene]
  • LOC129992941:ATAC-STARR-seq lymphoblastoid active region 21799 [Gene]
  • LOC129992942:ATAC-STARR-seq lymphoblastoid active region 21800 [Gene]
  • LOC129992944:ATAC-STARR-seq lymphoblastoid active region 21802 [Gene]
  • LOC129992946:ATAC-STARR-seq lymphoblastoid active region 21803 [Gene]
  • LOC129992947:ATAC-STARR-seq lymphoblastoid active region 21804 [Gene]
  • LOC129992948:ATAC-STARR-seq lymphoblastoid active region 21805 [Gene]
  • LOC129992951:ATAC-STARR-seq lymphoblastoid active region 21806 [Gene]
  • LOC129992952:ATAC-STARR-seq lymphoblastoid active region 21807 [Gene]
  • LOC129992954:ATAC-STARR-seq lymphoblastoid active region 21808 [Gene]
  • LOC129992955:ATAC-STARR-seq lymphoblastoid active region 21809 [Gene]
  • LOC129992956:ATAC-STARR-seq lymphoblastoid active region 21810 [Gene]
  • LOC129992957:ATAC-STARR-seq lymphoblastoid active region 21811 [Gene]
  • LOC129992958:ATAC-STARR-seq lymphoblastoid active region 21812 [Gene]
  • LOC129992959:ATAC-STARR-seq lymphoblastoid active region 21813 [Gene]
  • LOC129992960:ATAC-STARR-seq lymphoblastoid active region 21814 [Gene]
  • LOC129992961:ATAC-STARR-seq lymphoblastoid active region 21815 [Gene]
  • LOC129992963:ATAC-STARR-seq lymphoblastoid active region 21816 [Gene]
  • LOC129992965:ATAC-STARR-seq lymphoblastoid active region 21817 [Gene]
  • LOC129992967:ATAC-STARR-seq lymphoblastoid active region 21818 [Gene]
  • LOC129992970:ATAC-STARR-seq lymphoblastoid active region 21819 [Gene]
  • LOC129992972:ATAC-STARR-seq lymphoblastoid active region 21820 [Gene]
  • LOC129992973:ATAC-STARR-seq lymphoblastoid active region 21821 [Gene]
  • LOC129992975:ATAC-STARR-seq lymphoblastoid active region 21822 [Gene]
  • LOC129992976:ATAC-STARR-seq lymphoblastoid active region 21823 [Gene]
  • LOC129992977:ATAC-STARR-seq lymphoblastoid active region 21824 [Gene]
  • LOC129992978:ATAC-STARR-seq lymphoblastoid active region 21825 [Gene]
  • LOC129992980:ATAC-STARR-seq lymphoblastoid active region 21826 [Gene]
  • LOC129992981:ATAC-STARR-seq lymphoblastoid active region 21827 [Gene]
  • LOC129992982:ATAC-STARR-seq lymphoblastoid active region 21828 [Gene]
  • LOC129992988:ATAC-STARR-seq lymphoblastoid active region 21831 [Gene]
  • LOC129992989:ATAC-STARR-seq lymphoblastoid active region 21832 [Gene]
  • LOC129992990:ATAC-STARR-seq lymphoblastoid active region 21833 [Gene]
  • LOC129992992:ATAC-STARR-seq lymphoblastoid active region 21836 [Gene]
  • LOC129992996:ATAC-STARR-seq lymphoblastoid active region 21838 [Gene]
  • LOC129992999:ATAC-STARR-seq lymphoblastoid active region 21839 [Gene]
  • LOC129993000:ATAC-STARR-seq lymphoblastoid active region 21840 [Gene]
  • LOC129993001:ATAC-STARR-seq lymphoblastoid active region 21841 [Gene]
  • LOC129993002:ATAC-STARR-seq lymphoblastoid active region 21842 [Gene]
  • LOC129993003:ATAC-STARR-seq lymphoblastoid active region 21843 [Gene]
  • LOC129993004:ATAC-STARR-seq lymphoblastoid active region 21844 [Gene]
  • LOC129993005:ATAC-STARR-seq lymphoblastoid active region 21845 [Gene]
  • LOC129993007:ATAC-STARR-seq lymphoblastoid active region 21846 [Gene]
  • LOC129993008:ATAC-STARR-seq lymphoblastoid active region 21847 [Gene]
  • LOC129993009:ATAC-STARR-seq lymphoblastoid active region 21848 [Gene]
  • LOC129993010:ATAC-STARR-seq lymphoblastoid active region 21849 [Gene]
  • LOC129993011:ATAC-STARR-seq lymphoblastoid active region 21850 [Gene]
  • LOC129993013:ATAC-STARR-seq lymphoblastoid active region 21851 [Gene]
  • LOC129993014:ATAC-STARR-seq lymphoblastoid active region 21852 [Gene]
  • LOC129993016:ATAC-STARR-seq lymphoblastoid active region 21854 [Gene]
  • LOC129993017:ATAC-STARR-seq lymphoblastoid active region 21855 [Gene]
  • LOC129993018:ATAC-STARR-seq lymphoblastoid active region 21856 [Gene]
  • LOC129993021:ATAC-STARR-seq lymphoblastoid active region 21857 [Gene]
  • LOC129993023:ATAC-STARR-seq lymphoblastoid active region 21858 [Gene]
  • LOC129993024:ATAC-STARR-seq lymphoblastoid active region 21860 [Gene]
  • LOC129993025:ATAC-STARR-seq lymphoblastoid active region 21861 [Gene]
  • LOC129993026:ATAC-STARR-seq lymphoblastoid active region 21862 [Gene]
  • LOC129993027:ATAC-STARR-seq lymphoblastoid active region 21863 [Gene]
  • LOC129993028:ATAC-STARR-seq lymphoblastoid active region 21864 [Gene]
  • LOC129993029:ATAC-STARR-seq lymphoblastoid active region 21865 [Gene]
  • LOC129993033:ATAC-STARR-seq lymphoblastoid active region 21868 [Gene]
  • LOC129993034:ATAC-STARR-seq lymphoblastoid active region 21870 [Gene]
  • LOC129993035:ATAC-STARR-seq lymphoblastoid active region 21871 [Gene]
  • LOC129993036:ATAC-STARR-seq lymphoblastoid active region 21872 [Gene]
  • LOC129993039:ATAC-STARR-seq lymphoblastoid active region 21873 [Gene]
  • LOC129993041:ATAC-STARR-seq lymphoblastoid active region 21874 [Gene]
  • LOC129993043:ATAC-STARR-seq lymphoblastoid active region 21875 [Gene]
  • LOC129993044:ATAC-STARR-seq lymphoblastoid active region 21877 [Gene]
  • LOC129993046:ATAC-STARR-seq lymphoblastoid active region 21881 [Gene]
  • LOC129993047:ATAC-STARR-seq lymphoblastoid active region 21882 [Gene]
  • LOC129993053:ATAC-STARR-seq lymphoblastoid active region 21886 [Gene]
  • LOC129993054:ATAC-STARR-seq lymphoblastoid active region 21887 [Gene]
  • LOC129993065:ATAC-STARR-seq lymphoblastoid active region 21890 [Gene]
  • LOC129993066:ATAC-STARR-seq lymphoblastoid active region 21891 [Gene]
  • LOC129993067:ATAC-STARR-seq lymphoblastoid active region 21892 [Gene]
  • LOC129993068:ATAC-STARR-seq lymphoblastoid active region 21893 [Gene]
  • LOC129993070:ATAC-STARR-seq lymphoblastoid active region 21894 [Gene]
  • LOC129993075:ATAC-STARR-seq lymphoblastoid active region 21895 [Gene]
  • LOC129993076:ATAC-STARR-seq lymphoblastoid active region 21896 [Gene]
  • LOC129993077:ATAC-STARR-seq lymphoblastoid active region 21897 [Gene]
  • LOC129993078:ATAC-STARR-seq lymphoblastoid active region 21898 [Gene]
  • LOC129993079:ATAC-STARR-seq lymphoblastoid active region 21899 [Gene]
  • LOC129993080:ATAC-STARR-seq lymphoblastoid active region 21900 [Gene]
  • LOC129993081:ATAC-STARR-seq lymphoblastoid active region 21901 [Gene]
  • LOC129993082:ATAC-STARR-seq lymphoblastoid active region 21902 [Gene]
  • LOC129993083:ATAC-STARR-seq lymphoblastoid active region 21903 [Gene]
  • LOC129993084:ATAC-STARR-seq lymphoblastoid active region 21904 [Gene]
  • LOC129993085:ATAC-STARR-seq lymphoblastoid active region 21905 [Gene]
  • LOC129993086:ATAC-STARR-seq lymphoblastoid active region 21907 [Gene]
  • LOC129992849:ATAC-STARR-seq lymphoblastoid silent region 15576 [Gene]
  • LOC129992850:ATAC-STARR-seq lymphoblastoid silent region 15577 [Gene]
  • LOC129992853:ATAC-STARR-seq lymphoblastoid silent region 15578 [Gene]
  • LOC129992854:ATAC-STARR-seq lymphoblastoid silent region 15579 [Gene]
  • LOC129992856:ATAC-STARR-seq lymphoblastoid silent region 15580 [Gene]
  • LOC129992859:ATAC-STARR-seq lymphoblastoid silent region 15583 [Gene]
  • LOC129992861:ATAC-STARR-seq lymphoblastoid silent region 15584 [Gene]
  • LOC129992862:ATAC-STARR-seq lymphoblastoid silent region 15585 [Gene]
  • LOC129992863:ATAC-STARR-seq lymphoblastoid silent region 15586 [Gene]
  • LOC129992866:ATAC-STARR-seq lymphoblastoid silent region 15589 [Gene]
  • LOC129992868:ATAC-STARR-seq lymphoblastoid silent region 15590 [Gene]
  • LOC129992870:ATAC-STARR-seq lymphoblastoid silent region 15591 [Gene]
  • LOC129992871:ATAC-STARR-seq lymphoblastoid silent region 15592 [Gene]
  • LOC129992872:ATAC-STARR-seq lymphoblastoid silent region 15593 [Gene]
  • LOC129992874:ATAC-STARR-seq lymphoblastoid silent region 15594 [Gene]
  • LOC129992876:ATAC-STARR-seq lymphoblastoid silent region 15595 [Gene]
  • LOC129992879:ATAC-STARR-seq lymphoblastoid silent region 15596 [Gene]
  • LOC129992880:ATAC-STARR-seq lymphoblastoid silent region 15597 [Gene]
  • LOC129992883:ATAC-STARR-seq lymphoblastoid silent region 15598 [Gene]
  • LOC129992887:ATAC-STARR-seq lymphoblastoid silent region 15599 [Gene]
  • LOC129992891:ATAC-STARR-seq lymphoblastoid silent region 15602 [Gene]
  • LOC129992892:ATAC-STARR-seq lymphoblastoid silent region 15603 [Gene]
  • LOC129992893:ATAC-STARR-seq lymphoblastoid silent region 15604 [Gene]
  • LOC129992900:ATAC-STARR-seq lymphoblastoid silent region 15605 [Gene]
  • LOC129992908:ATAC-STARR-seq lymphoblastoid silent region 15606 [Gene]
  • LOC129992911:ATAC-STARR-seq lymphoblastoid silent region 15607 [Gene]
  • LOC129992915:ATAC-STARR-seq lymphoblastoid silent region 15608 [Gene]
  • LOC129992919:ATAC-STARR-seq lymphoblastoid silent region 15609 [Gene]
  • LOC129992920:ATAC-STARR-seq lymphoblastoid silent region 15610 [Gene]
  • LOC129992921:ATAC-STARR-seq lymphoblastoid silent region 15611 [Gene]
  • LOC129992927:ATAC-STARR-seq lymphoblastoid silent region 15612 [Gene]
  • LOC129992931:ATAC-STARR-seq lymphoblastoid silent region 15614 [Gene]
  • LOC129992934:ATAC-STARR-seq lymphoblastoid silent region 15615 [Gene]
  • LOC129992937:ATAC-STARR-seq lymphoblastoid silent region 15617 [Gene]
  • LOC129992938:ATAC-STARR-seq lymphoblastoid silent region 15618 [Gene]
  • LOC129992939:ATAC-STARR-seq lymphoblastoid silent region 15619 [Gene]
  • LOC129992943:ATAC-STARR-seq lymphoblastoid silent region 15620 [Gene]
  • LOC129992945:ATAC-STARR-seq lymphoblastoid silent region 15623 [Gene]
  • LOC129992949:ATAC-STARR-seq lymphoblastoid silent region 15624 [Gene]
  • LOC129992950:ATAC-STARR-seq lymphoblastoid silent region 15625 [Gene]
  • LOC129992953:ATAC-STARR-seq lymphoblastoid silent region 15626 [Gene]
  • LOC129992962:ATAC-STARR-seq lymphoblastoid silent region 15628 [Gene]
  • LOC129992964:ATAC-STARR-seq lymphoblastoid silent region 15629 [Gene]
  • LOC129992966:ATAC-STARR-seq lymphoblastoid silent region 15630 [Gene]
  • LOC129992968:ATAC-STARR-seq lymphoblastoid silent region 15631 [Gene]
  • LOC129992969:ATAC-STARR-seq lymphoblastoid silent region 15632 [Gene]
  • LOC129992971:ATAC-STARR-seq lymphoblastoid silent region 15633 [Gene]
  • LOC129992974:ATAC-STARR-seq lymphoblastoid silent region 15636 [Gene]
  • LOC129992979:ATAC-STARR-seq lymphoblastoid silent region 15637 [Gene]
  • LOC129992983:ATAC-STARR-seq lymphoblastoid silent region 15638 [Gene]
  • LOC129992984:ATAC-STARR-seq lymphoblastoid silent region 15639 [Gene]
  • LOC129992985:ATAC-STARR-seq lymphoblastoid silent region 15640 [Gene]
  • LOC129992986:ATAC-STARR-seq lymphoblastoid silent region 15641 [Gene]
  • LOC129992987:ATAC-STARR-seq lymphoblastoid silent region 15642 [Gene]
  • LOC129992991:ATAC-STARR-seq lymphoblastoid silent region 15643 [Gene]
  • LOC129992993:ATAC-STARR-seq lymphoblastoid silent region 15644 [Gene]
  • LOC129992994:ATAC-STARR-seq lymphoblastoid silent region 15645 [Gene]
  • LOC129992995:ATAC-STARR-seq lymphoblastoid silent region 15646 [Gene]
  • LOC129992997:ATAC-STARR-seq lymphoblastoid silent region 15647 [Gene]
  • LOC129992998:ATAC-STARR-seq lymphoblastoid silent region 15648 [Gene]
  • LOC129993006:ATAC-STARR-seq lymphoblastoid silent region 15649 [Gene]
  • LOC129993012:ATAC-STARR-seq lymphoblastoid silent region 15653 [Gene]
  • LOC129993015:ATAC-STARR-seq lymphoblastoid silent region 15654 [Gene]
  • LOC129993019:ATAC-STARR-seq lymphoblastoid silent region 15655 [Gene]
  • LOC129993020:ATAC-STARR-seq lymphoblastoid silent region 15656 [Gene]
  • LOC129993022:ATAC-STARR-seq lymphoblastoid silent region 15657 [Gene]
  • LOC129993030:ATAC-STARR-seq lymphoblastoid silent region 15658 [Gene]
  • LOC129993031:ATAC-STARR-seq lymphoblastoid silent region 15659 [Gene]
  • LOC129993032:ATAC-STARR-seq lymphoblastoid silent region 15660 [Gene]
  • LOC129993037:ATAC-STARR-seq lymphoblastoid silent region 15661 [Gene]
  • LOC129993038:ATAC-STARR-seq lymphoblastoid silent region 15662 [Gene]
  • LOC129993040:ATAC-STARR-seq lymphoblastoid silent region 15664 [Gene]
  • LOC129993042:ATAC-STARR-seq lymphoblastoid silent region 15665 [Gene]
  • LOC129993045:ATAC-STARR-seq lymphoblastoid silent region 15667 [Gene]
  • LOC129993048:ATAC-STARR-seq lymphoblastoid silent region 15668 [Gene]
  • LOC129993049:ATAC-STARR-seq lymphoblastoid silent region 15671 [Gene]
  • LOC129993050:ATAC-STARR-seq lymphoblastoid silent region 15672 [Gene]
  • LOC129993051:ATAC-STARR-seq lymphoblastoid silent region 15673 [Gene]
  • LOC129993052:ATAC-STARR-seq lymphoblastoid silent region 15674 [Gene]
  • LOC129993055:ATAC-STARR-seq lymphoblastoid silent region 15675 [Gene]
  • LOC129993056:ATAC-STARR-seq lymphoblastoid silent region 15676 [Gene]
  • LOC129993057:ATAC-STARR-seq lymphoblastoid silent region 15677 [Gene]
  • LOC129993058:ATAC-STARR-seq lymphoblastoid silent region 15678 [Gene]
  • LOC129993059:ATAC-STARR-seq lymphoblastoid silent region 15679 [Gene]
  • LOC129993060:ATAC-STARR-seq lymphoblastoid silent region 15681 [Gene]
  • LOC129993061:ATAC-STARR-seq lymphoblastoid silent region 15682 [Gene]
  • LOC129993062:ATAC-STARR-seq lymphoblastoid silent region 15683 [Gene]
  • LOC129993063:ATAC-STARR-seq lymphoblastoid silent region 15684 [Gene]
  • LOC129993064:ATAC-STARR-seq lymphoblastoid silent region 15685 [Gene]
  • LOC129993069:ATAC-STARR-seq lymphoblastoid silent region 15686 [Gene]
  • LOC129993071:ATAC-STARR-seq lymphoblastoid silent region 15687 [Gene]
  • LOC129993072:ATAC-STARR-seq lymphoblastoid silent region 15688 [Gene]
  • LOC129993073:ATAC-STARR-seq lymphoblastoid silent region 15689 [Gene]
  • LOC129993074:ATAC-STARR-seq lymphoblastoid silent region 15690 [Gene]
  • LOC129993087:ATAC-STARR-seq lymphoblastoid silent region 15691 [Gene]
  • BANK1:B cell scaffold protein with ankyrin repeats 1 [Gene - OMIM - HGNC]
  • BBS7-DT:BBS7 divergent transcript [Gene - HGNC]
  • LOC126807124:BRD4-independent group 4 enhancer GRCh37_chr4:100484300-100485499 [Gene]
  • LOC126807126:BRD4-independent group 4 enhancer GRCh37_chr4:103398895-103400094 [Gene]
  • LOC126807129:BRD4-independent group 4 enhancer GRCh37_chr4:104176632-104177831 [Gene]
  • LOC126807130:BRD4-independent group 4 enhancer GRCh37_chr4:107365502-107366701 [Gene]
  • LOC126807132:BRD4-independent group 4 enhancer GRCh37_chr4:108748306-108749505 [Gene]
  • LOC126807134:BRD4-independent group 4 enhancer GRCh37_chr4:110900995-110902194 [Gene]
  • LOC126807135:BRD4-independent group 4 enhancer GRCh37_chr4:110972146-110973345 [Gene]
  • LOC126807139:BRD4-independent group 4 enhancer GRCh37_chr4:114839688-114840887 [Gene]
  • LOC126807146:BRD4-independent group 4 enhancer GRCh37_chr4:123495468-123496667 [Gene]
  • LOC126807153:BRD4-independent group 4 enhancer GRCh37_chr4:129390695-129391894 [Gene]
  • LOC126807117:BRD4-independent group 4 enhancer GRCh37_chr4:98060958-98062157 [Gene]
  • BBS12:Bardet-Biedl syndrome 12 [Gene - OMIM - HGNC]
  • BBS7:Bardet-Biedl syndrome 7 [Gene - OMIM - HGNC]
  • CISD2:CDGSH iron sulfur domain 2 [Gene - OMIM - HGNC]
  • LOC126807127:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:103521788-103522987 [Gene]
  • LOC126807128:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:103746355-103747554 [Gene]
  • LOC123477802:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:110909878-110911077 [Gene]
  • LOC126807137:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759 [Gene]
  • LOC126807147:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:123541308-123542507 [Gene]
  • LOC126807148:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:123707239-123708438 [Gene]
  • LOC126807151:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:128607842-128609041 [Gene]
  • LOC126807152:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:129308825-129310024 [Gene]
  • LOC126807158:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:132486813-132488012 [Gene]
  • LOC126807159:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:133440023-133441222 [Gene]
  • LOC126807119:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:99574420-99575619 [Gene]
  • COL25A1-DT:COL25A1 divergent transcript [Gene - HGNC]
  • LOC116158504:CRISPRi-validated cis-regulatory element chr4.2289 [Gene]
  • LOC116158505:CRISPRi-validated cis-regulatory element chr4.2290 [Gene]
  • LOC116158506:CRISPRi-validated cis-regulatory element chr4.2510 [Gene]
  • LOC116158507:CRISPRi-validated cis-regulatory element chr4.2649 [Gene]
  • CXXC4:CXXC finger protein 4 [Gene - OMIM - HGNC]
  • CXXC4-AS1:CXXC4 antisense RNA 1 [Gene - HGNC]
  • CYP2U1-AS1:CYP2U1 and SGMS2 antisense RNA 1 [Gene - HGNC]
  • LOC111240471:D-E enhancer region downstream of ADH7 [Gene]
  • DDIT4L-AS1:DDIT4L antisense RNA 1 [Gene - HGNC]
  • DDIT4L:DNA damage inducible transcript 4 like [Gene - OMIM - HGNC]
  • DNAJB14:DnaJ heat shock protein family (Hsp40) member B14 [Gene - OMIM - HGNC]
  • ELOVL6:ELOVL fatty acid elongase 6 [Gene - OMIM - HGNC]
  • FAT4:FAT atypical cadherin 4 [Gene - OMIM - HGNC]
  • LOC109113863:FGF2 promoter region [Gene]
  • LOC111591508:FOXA motif-containing MPRA enhancer 297 [Gene]
  • GAR1-DT:GAR1 divergent transcript [Gene - HGNC]
  • GAR1:GAR1 ribonucleoprotein [Gene - OMIM - HGNC]
  • GIMD1:GIMAP family P-loop NTPase domain containing 1 [Gene - HGNC]
  • GSTCD-AS1:GSTCD antisense RNA 1 [Gene - HGNC]
  • H2AZ1:H2A.Z variant histone 1 [Gene - OMIM - HGNC]
  • H2AZ1-DT:H2AZ1 divergent transcript [Gene - HGNC]
  • IL21-AS1:IL21 antisense RNA 1 [Gene - HGNC]
  • LEF1-AS1:LEF1 antisense RNA 1 [Gene - HGNC]
  • LARP1B:La ribonucleoprotein 1B [Gene - OMIM - HGNC]
  • LARP7:La ribonucleoprotein 7, transcriptional regulator [Gene - OMIM - HGNC]
  • MAD2L1-DT:MAD2L1 divergent transcript [Gene - HGNC]
  • LOC126807121:MED14-independent group 3 enhancer GRCh37_chr4:100207424-100208623 [Gene]
  • LOC126807123:MED14-independent group 3 enhancer GRCh37_chr4:100367692-100368891 [Gene]
  • LOC126807125:MED14-independent group 3 enhancer GRCh37_chr4:103188587-103189786 [Gene]
  • LOC126807136:MED14-independent group 3 enhancer GRCh37_chr4:114274931-114276130 [Gene]
  • LOC126807138:MED14-independent group 3 enhancer GRCh37_chr4:114481688-114482887 [Gene]
  • LOC126807140:MED14-independent group 3 enhancer GRCh37_chr4:117524371-117525570 [Gene]
  • LOC126807142:MED14-independent group 3 enhancer GRCh37_chr4:119318395-119319594 [Gene]
  • LOC126807145:MED14-independent group 3 enhancer GRCh37_chr4:122633152-122634351 [Gene]
  • LOC126807149:MED14-independent group 3 enhancer GRCh37_chr4:123719262-123720461 [Gene]
  • LOC126807154:MED14-independent group 3 enhancer GRCh37_chr4:129606954-129608153 [Gene]
  • LOC126807155:MED14-independent group 3 enhancer GRCh37_chr4:130504726-130505925 [Gene]
  • LOC126807156:MED14-independent group 3 enhancer GRCh37_chr4:130972816-130974015 [Gene]
  • LOC126807160:MED14-independent group 3 enhancer GRCh37_chr4:135286515-135287714 [Gene]
  • LOC126807116:MED14-independent group 3 enhancer GRCh37_chr4:97664441-97665640 [Gene]
  • METTL14-DT:METTL14 divergent transcript [Gene - HGNC]
  • LOC129389226:MPRA-validated peak5077 silencer [Gene]
  • LOC129389227:MPRA-validated peak5080 silencer [Gene]
  • LOC129389228:MPRA-validated peak5081 silencer [Gene]
  • LOC129389229:MPRA-validated peak5082 silencer [Gene]
  • LOC129389230:MPRA-validated peak5084 silencer [Gene]
  • LOC129389231:MPRA-validated peak5086 silencer [Gene]
  • LOC129389232:MPRA-validated peak5097 silencer [Gene]
  • LOC129389233:MPRA-validated peak5100 silencer [Gene]
  • LOC129389234:MPRA-validated peak5101 silencer [Gene]
  • LOC129389235:MPRA-validated peak5104 silencer [Gene]
  • LOC129389236:MPRA-validated peak5106 silencer [Gene]
  • LOC129389237:MPRA-validated peak5117 silencer [Gene]
  • LOC129389238:MPRA-validated peak5118 silencer [Gene]
  • NDST3:N-deacetylase and N-sulfotransferase 3 [Gene - OMIM - HGNC]
  • NDST4:N-deacetylase and N-sulfotransferase 4 [Gene - OMIM - HGNC]
  • NDNF-AS1:NDNF antisense RNA 1 [Gene - HGNC]
  • NEUROG2-AS1:NEUROG2 and ZGRF1 antisense RNA 1 [Gene - HGNC]
  • LOC111413048:NFE2L2 motif-containing MPRA enhancer 199 [Gene]
  • LOC132088988:Neanderthal introgressed variant-containing enhancer experimental_71492 [Gene]
  • LOC132090708:Neanderthal introgressed variant-containing enhancer experimental_71505 [Gene]
  • LOC132088989:Neanderthal introgressed variant-containing enhancer experimental_71593 [Gene]
  • LOC132088990:Neanderthal introgressed variant-containing enhancer experimental_71618 [Gene]
  • LOC132088991:Neanderthal introgressed variant-containing enhancer experimental_71641 [Gene]
  • LOC132088992:Neanderthal introgressed variant-containing enhancer experimental_71659 [Gene]
  • LOC132088993:Neanderthal introgressed variant-containing enhancer experimental_71681 [Gene]
  • LOC132090709:Neanderthal introgressed variant-containing enhancer experimental_71700 [Gene]
  • LOC132088994:Neanderthal introgressed variant-containing enhancer experimental_71781 [Gene]
  • LOC132088995:Neanderthal introgressed variant-containing enhancer experimental_71805 [Gene]
  • LOC132088996:Neanderthal introgressed variant-containing enhancer experimental_71901 [Gene]
  • LOC132088997:Neanderthal introgressed variant-containing enhancer experimental_71960 [Gene]
  • LOC132088998:Neanderthal introgressed variant-containing enhancer experimental_72001 [Gene]
  • LOC132088999:Neanderthal introgressed variant-containing enhancer experimental_72004 [Gene]
  • LOC132089000:Neanderthal introgressed variant-containing enhancer experimental_72035 [Gene]
  • LOC132089001:Neanderthal introgressed variant-containing enhancer experimental_72110 [Gene]
  • LOC132089002:Neanderthal introgressed variant-containing enhancer experimental_72140 [Gene]
  • LOC132089003:Neanderthal introgressed variant-containing enhancer experimental_72235 [Gene]
  • LOC132089004:Neanderthal introgressed variant-containing enhancer experimental_72247 [Gene]
  • LOC132089005:Neanderthal introgressed variant-containing enhancer experimental_72414 [Gene]
  • LOC132089006:Neanderthal introgressed variant-containing enhancer experimental_72419 [Gene]
  • LOC132089007:Neanderthal introgressed variant-containing enhancer experimental_72528 [Gene]
  • LOC132089008:Neanderthal introgressed variant-containing enhancer experimental_72556 [Gene]
  • LOC132089009:Neanderthal introgressed variant-containing enhancer experimental_72587 [Gene]
  • LOC132089010:Neanderthal introgressed variant-containing enhancer experimental_72607 [Gene]
  • LOC132089011:Neanderthal introgressed variant-containing enhancer experimental_72637 [Gene]
  • LOC132089012:Neanderthal introgressed variant-containing enhancer experimental_72694 [Gene]
  • LOC132090710:Neanderthal introgressed variant-containing enhancer experimental_72756 [Gene]
  • LOC132089013:Neanderthal introgressed variant-containing enhancer experimental_73007 [Gene]
  • LOC132089014:Neanderthal introgressed variant-containing enhancer experimental_73151 [Gene]
  • LOC132090711:Neanderthal introgressed variant-containing enhancer experimental_73157 [Gene]
  • LOC132089015:Neanderthal introgressed variant-containing enhancer experimental_73174 [Gene]
  • LOC132089016:Neanderthal introgressed variant-containing enhancer experimental_73198 [Gene]
  • LOC132089017:Neanderthal introgressed variant-containing enhancer experimental_73219 [Gene]
  • LOC132089018:Neanderthal introgressed variant-containing enhancer experimental_73301 [Gene]
  • LOC132089019:Neanderthal introgressed variant-containing enhancer experimental_73347 [Gene]
  • LOC132089020:Neanderthal introgressed variant-containing enhancer experimental_73368 [Gene]
  • LOC132089021:Neanderthal introgressed variant-containing enhancer experimental_73373 [Gene]
  • LOC132089022:Neanderthal introgressed variant-containing enhancer experimental_73387 [Gene]
  • LOC132090712:Neanderthal introgressed variant-containing enhancer experimental_73515 [Gene]
  • LOC132089023:Neanderthal introgressed variant-containing enhancer experimental_73569 [Gene]
  • LOC132090713:Neanderthal introgressed variant-containing enhancer experimental_73803 [Gene]
  • LOC132089024:Neanderthal introgressed variant-containing enhancer experimental_73815 [Gene]
  • LOC132089025:Neanderthal introgressed variant-containing enhancer experimental_73859 [Gene]
  • LOC132089026:Neanderthal introgressed variant-containing enhancer experimental_73920 [Gene]
  • LOC132089027:Neanderthal introgressed variant-containing enhancer experimental_73968 [Gene]
  • LOC132090714:Neanderthal introgressed variant-containing enhancer experimental_73985 [Gene]
  • LOC132089028:Neanderthal introgressed variant-containing enhancer experimental_73994 [Gene]
  • LOC132089029:Neanderthal introgressed variant-containing enhancer experimental_74020 [Gene]
  • LOC132089030:Neanderthal introgressed variant-containing enhancer experimental_74071 [Gene]
  • LOC132089031:Neanderthal introgressed variant-containing enhancer experimental_74072 [Gene]
  • LOC132089032:Neanderthal introgressed variant-containing enhancer experimental_74204 [Gene]
  • LOC132089033:Neanderthal introgressed variant-containing enhancer experimental_74235 [Gene]
  • LOC132089034:Neanderthal introgressed variant-containing enhancer experimental_74251 [Gene]
  • LOC132089035:Neanderthal introgressed variant-containing enhancer experimental_74277 [Gene]
  • LOC132089036:Neanderthal introgressed variant-containing enhancer experimental_74389 [Gene]
  • LOC132089037:Neanderthal introgressed variant-containing enhancer experimental_74415 [Gene]
  • LOC132089038:Neanderthal introgressed variant-containing enhancer experimental_74418 [Gene]
  • LOC132089039:Neanderthal introgressed variant-containing enhancer experimental_74428 [Gene]
  • LOC132089040:Neanderthal introgressed variant-containing enhancer experimental_74530 [Gene]
  • LOC132089041:Neanderthal introgressed variant-containing enhancer experimental_74536 [Gene]
  • LOC126807122:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:100238861-100240060 [Gene]
  • LOC126807131:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:108340321-108341520 [Gene]
  • LOC126807133:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:109541270-109542469 [Gene]
  • LOC112935973:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:113003830-113005029 [Gene]
  • LOC126807141:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:117901144-117902343 [Gene]
  • LOC126807143:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:120130431-120131630 [Gene]
  • LOC126807144:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:122611545-122612744 [Gene]
  • LOC126807150:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:127771052-127772251 [Gene]
  • LOC123480930:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:128629462-128630661 [Gene]
  • LOC126807157:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:131553588-131554787 [Gene]
  • LOC126807161:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:135837792-135838991 [Gene]
  • LOC126807115:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:97023059-97024258 [Gene]
  • LOC126807118:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:98508983-98510182 [Gene]
  • LOC126807120:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:99850678-99851877 [Gene]
  • PCDH10-DT:PCDH10 divergent transcript [Gene - HGNC]
  • PANCR:PITX2 adjacent non-coding RNA [Gene - OMIM - HGNC]
  • PRDM5:PR/SET domain 5 [Gene - OMIM - HGNC]
  • RPL34-DT:RPL34 divergent transcript [Gene - HGNC]
  • RAP1GDS1:Rap1 GTPase-GDP dissociation stimulator 1 [Gene - OMIM - HGNC]
  • ARHGEF38:Rho guanine nucleotide exchange factor 38 [Gene - OMIM - HGNC]
  • SEC24B:SEC24 homolog B, COPII coat complex component [Gene - OMIM - HGNC]
  • SEC24D:SEC24 homolog D, COPII coat complex component [Gene - OMIM - HGNC]
  • SEC24B-AS1:SEC24B antisense RNA 1 [Gene - HGNC]
  • STPG2-AS1:STPG2 antisense RNA 1 [Gene - HGNC]
  • LOC123480924:Sharpr-MPRA regulatory region 10032 [Gene]
  • LOC121053191:Sharpr-MPRA regulatory region 10992 [Gene]
  • LOC121725179:Sharpr-MPRA regulatory region 11258 [Gene]
  • LOC112935971:Sharpr-MPRA regulatory region 11278 [Gene]
  • LOC112935978:Sharpr-MPRA regulatory region 11420 [Gene]
  • LOC123480926:Sharpr-MPRA regulatory region 1143 [Gene]
  • LOC121725182:Sharpr-MPRA regulatory region 11880 [Gene]
  • LOC123480932:Sharpr-MPRA regulatory region 12082 [Gene]
  • LOC112935972:Sharpr-MPRA regulatory region 12117 [Gene]
  • LOC112935970:Sharpr-MPRA regulatory region 12553 [Gene]
  • LOC121725187:Sharpr-MPRA regulatory region 12612 [Gene]
  • LOC121053189:Sharpr-MPRA regulatory region 12770 [Gene]
  • LOC121725185:Sharpr-MPRA regulatory region 12847 [Gene]
  • LOC123477792:Sharpr-MPRA regulatory region 12926 [Gene]
  • LOC123477795:Sharpr-MPRA regulatory region 13477 [Gene]
  • LOC123480931:Sharpr-MPRA regulatory region 13521 [Gene]
  • LOC112939918:Sharpr-MPRA regulatory region 13606 [Gene]
  • LOC123480920:Sharpr-MPRA regulatory region 13729 [Gene]
  • LOC121725186:Sharpr-MPRA regulatory region 14026 [Gene]
  • LOC123480927:Sharpr-MPRA regulatory region 14356 [Gene]
  • LOC121725180:Sharpr-MPRA regulatory region 14793 [Gene]
  • LOC123480921:Sharpr-MPRA regulatory region 15168 [Gene]
  • LOC123477799:Sharpr-MPRA regulatory region 1704 [Gene]
  • LOC112935979:Sharpr-MPRA regulatory region 2230 [Gene]
  • LOC123477796:Sharpr-MPRA regulatory region 2283 [Gene]
  • LOC123477797:Sharpr-MPRA regulatory region 231 [Gene]
  • LOC112935976:Sharpr-MPRA regulatory region 2369 [Gene]
  • LOC121053192:Sharpr-MPRA regulatory region 3032 [Gene]
  • LOC123477806:Sharpr-MPRA regulatory region 3285 [Gene]
  • LOC121725183:Sharpr-MPRA regulatory region 3409 [Gene]
  • LOC121725181:Sharpr-MPRA regulatory region 3955 [Gene]
  • LOC123480922:Sharpr-MPRA regulatory region 4201 [Gene]
  • LOC123477807:Sharpr-MPRA regulatory region 420 [Gene]
  • LOC123477794:Sharpr-MPRA regulatory region 422 [Gene]
  • LOC112935980:Sharpr-MPRA regulatory region 4593 [Gene]
  • LOC123480923:Sharpr-MPRA regulatory region 4773 [Gene]
  • LOC121056742:Sharpr-MPRA regulatory region 4891 [Gene]
  • LOC123480929:Sharpr-MPRA regulatory region 5357 [Gene]
  • LOC123477804:Sharpr-MPRA regulatory region 5470 [Gene]
  • LOC123477801:Sharpr-MPRA regulatory region 6018 [Gene]
  • LOC121725188:Sharpr-MPRA regulatory region 6093 [Gene]
  • LOC123480925:Sharpr-MPRA regulatory region 6240 [Gene]
  • LOC121056741:Sharpr-MPRA regulatory region 6302 [Gene]
  • LOC121056743:Sharpr-MPRA regulatory region 6313 [Gene]
  • LOC123477791:Sharpr-MPRA regulatory region 6700 [Gene]
  • LOC123477800:Sharpr-MPRA regulatory region 6815 [Gene]
  • LOC123480934:Sharpr-MPRA regulatory region 7344 [Gene]
  • LOC123477798:Sharpr-MPRA regulatory region 7463 [Gene]
  • LOC123477803:Sharpr-MPRA regulatory region 7468 [Gene]
  • LOC121053190:Sharpr-MPRA regulatory region 773 [Gene]
  • LOC123480933:Sharpr-MPRA regulatory region 780 [Gene]
  • LOC123477793:Sharpr-MPRA regulatory region 8198 [Gene]
  • LOC123477810:Sharpr-MPRA regulatory region 8287 [Gene]
  • LOC123477809:Sharpr-MPRA regulatory region 8329 [Gene]
  • LOC112935975:Sharpr-MPRA regulatory region 864 [Gene]
  • LOC112935977:Sharpr-MPRA regulatory region 8715 [Gene]
  • LOC123480935:Sharpr-MPRA regulatory region 8780 [Gene]
  • LOC123477808:Sharpr-MPRA regulatory region 87 [Gene]
  • LOC123477805:Sharpr-MPRA regulatory region 9284 [Gene]
  • LOC123480928:Sharpr-MPRA regulatory region 9584 [Gene]
  • LOC112935974:Sharpr-MPRA regulatory region 9995 [Gene]
  • TACR3-AS1:TACR3 antisense RNA 1 [Gene - HGNC]
  • TBCK:TBC1 domain containing kinase [Gene - OMIM - HGNC]
  • TET2-AS1:TET2 antisense RNA 1 [Gene - HGNC]
  • TNIP3:TNFAIP3 interacting protein 3 [Gene - OMIM - HGNC]
  • TIFA:TRAF interacting protein with forkhead associated domain [Gene - OMIM - HGNC]
  • TSPAN5-DT:TSPAN5 divergent transcript [Gene - HGNC]
  • UBE2D3-AS1:UBE2D3 antisense RNA 1 [Gene - HGNC]
  • UGT8:UDP glycosyltransferase 8 [Gene - OMIM - HGNC]
  • LOC110120975:VISTA enhancer hs1050 [Gene]
  • LOC110121089:VISTA enhancer hs1389 [Gene]
  • LOC110121129:VISTA enhancer hs1525 [Gene]
  • LOC110121138:VISTA enhancer hs1545 [Gene]
  • LOC110121150:VISTA enhancer hs1582 [Gene]
  • LOC110120634:VISTA enhancer hs260 [Gene]
  • LOC110120703:VISTA enhancer hs559 [Gene]
  • LOC110120805:VISTA enhancer hs926 [Gene]
  • LOC110120806:VISTA enhancer hs930 [Gene]
  • LOC110120819:VISTA enhancer hs981 [Gene]
  • ABHD18:abhydrolase domain containing 18 [Gene - HGNC]
  • AP1AR:adaptor related protein complex 1 associated regulatory protein [Gene - OMIM - HGNC]
  • ADAD1:adenosine deaminase domain containing 1 [Gene - OMIM - HGNC]
  • ADH1A:alcohol dehydrogenase 1A (class I), alpha polypeptide [Gene - OMIM - HGNC]
  • ADH1B:alcohol dehydrogenase 1B (class I), beta polypeptide [Gene - OMIM - HGNC]
  • ADH1C:alcohol dehydrogenase 1C (class I), gamma polypeptide [Gene - OMIM - HGNC]
  • ADH4:alcohol dehydrogenase 4 (class II), pi polypeptide [Gene - OMIM - HGNC]
  • ADH5:alcohol dehydrogenase 5 (class III), chi polypeptide [Gene - OMIM - HGNC]
  • ADH6:alcohol dehydrogenase 6 (class V) [Gene - OMIM - HGNC]
  • ADH7:alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide [Gene - OMIM - HGNC]
  • ALPK1:alpha kinase 1 [Gene - OMIM - HGNC]
  • AIMP1:aminoacyl tRNA synthetase complex interacting multifunctional protein 1 [Gene - OMIM - HGNC]
  • ANK2:ankyrin 2 [Gene - OMIM - HGNC]
  • ANKRD50:ankyrin repeat domain containing 50 [Gene - OMIM - HGNC]
  • ANXA5:annexin A5 [Gene - OMIM - HGNC]
  • ARSJ:arylsulfatase family member J [Gene - OMIM - HGNC]
  • BLTP1:bridge-like lipid transfer protein family member 1 [Gene - OMIM - HGNC]
  • CAMK2D:calcium/calmodulin dependent protein kinase II delta [Gene - OMIM - HGNC]
  • CASP6:caspase 6 [Gene - OMIM - HGNC]
  • CENPE:centromere protein E [Gene - OMIM - HGNC]
  • C4orf17:chromosome 4 open reading frame 17 [Gene - HGNC]
  • C4orf33:chromosome 4 open reading frame 33 [Gene - HGNC]
  • C4orf3:chromosome 4 open reading frame 3 [Gene - OMIM - HGNC]
  • C4orf54:chromosome 4 open reading frame 54 [Gene - OMIM - HGNC]
  • COL25A1:collagen type XXV alpha 1 chain [Gene - OMIM - HGNC]
  • CFI:complement factor I [Gene - OMIM - HGNC]
  • CCNA2:cyclin A2 [Gene - OMIM - HGNC]
  • CYP2U1:cytochrome P450 family 2 subfamily U member 1 [Gene - OMIM - HGNC]
  • DKK2:dickkopf WNT signaling pathway inhibitor 2 [Gene - OMIM - HGNC]
  • DAPP1:dual adaptor of phosphotyrosine and 3-phosphoinositides 1 [Gene - OMIM - HGNC]
  • EMCN:endomucin [Gene - OMIM - HGNC]
  • EGF:epidermal growth factor [Gene - OMIM - HGNC]
  • ETNPPL:ethanolamine-phosphate phospho-lyase [Gene - OMIM - HGNC]
  • EIF4E:eukaryotic translation initiation factor 4E [Gene - OMIM - HGNC]
  • EXOSC9:exosome component 9 [Gene - OMIM - HGNC]
  • FAM241A:family with sequence similarity 241 member A [Gene - HGNC]
  • FABP2:fatty acid binding protein 2 [Gene - OMIM - HGNC]
  • FGF2:fibroblast growth factor 2 [Gene - OMIM - HGNC]
  • ENPEP:glutamyl aminopeptidase [Gene - OMIM - HGNC]
  • GSTCD:glutathione S-transferase C-terminal domain containing [Gene - OMIM - HGNC]
  • HSPA4L:heat shock protein family A (Hsp70) member 4 like [Gene - OMIM - HGNC]
  • HADH:hydroxyacyl-CoA dehydrogenase [Gene - OMIM - HGNC]
  • PPA2:inorganic pyrophosphatase 2 [Gene - OMIM - HGNC]
  • INTS12:integrator complex subunit 12 [Gene - OMIM - HGNC]
  • IL21:interleukin 21 [Gene - OMIM - HGNC]
  • IL2:interleukin 2 [Gene - OMIM - HGNC]
  • INTU:inturned planar cell polarity protein [Gene - OMIM - HGNC]
  • JADE1:jade family PHD finger 1 [Gene - OMIM - HGNC]
  • LAMTOR3:late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 [Gene - OMIM - HGNC]
  • LRIT3:leucine rich repeat, Ig-like and transmembrane domains 3 [Gene - OMIM - HGNC]
  • LINC01061:long intergenic non-protein coding RNA 1061 [Gene - HGNC]
  • LINC01091:long intergenic non-protein coding RNA 1091 [Gene - HGNC]
  • LINC01216:long intergenic non-protein coding RNA 1216 [Gene - HGNC]
  • LINC01217:long intergenic non-protein coding RNA 1217 [Gene - HGNC]
  • LINC01218:long intergenic non-protein coding RNA 1218 [Gene - HGNC]
  • LINC01256:long intergenic non-protein coding RNA 1256 [Gene - HGNC]
  • LINC01365:long intergenic non-protein coding RNA 1365 [Gene - HGNC]
  • LINC01378:long intergenic non-protein coding RNA 1378 [Gene - HGNC]
  • LINC02173:long intergenic non-protein coding RNA 2173 [Gene - HGNC]
  • LINC02262:long intergenic non-protein coding RNA 2262 [Gene - HGNC]
  • LINC02263:long intergenic non-protein coding RNA 2263 [Gene - HGNC]
  • LINC02264:long intergenic non-protein coding RNA 2264 [Gene - HGNC]
  • LINC02267:long intergenic non-protein coding RNA 2267 [Gene - HGNC]
  • LINC02377:long intergenic non-protein coding RNA 2377 [Gene - HGNC]
  • LINC02379:long intergenic non-protein coding RNA 2379 [Gene - HGNC]
  • LINC02428:long intergenic non-protein coding RNA 2428 [Gene - HGNC]
  • LINC02462:long intergenic non-protein coding RNA 2462 [Gene - HGNC]
  • LINC02465:long intergenic non-protein coding RNA 2465 [Gene - HGNC]
  • LINC02466:long intergenic non-protein coding RNA 2466 [Gene - HGNC]
  • LINC02479:long intergenic non-protein coding RNA 2479 [Gene - HGNC]
  • LINC02485:long intergenic non-protein coding RNA 2485 [Gene - HGNC]
  • LINC02502:long intergenic non-protein coding RNA 2502 [Gene - HGNC]
  • LINC02503:long intergenic non-protein coding RNA 2503 [Gene - HGNC]
  • LINC02516:long intergenic non-protein coding RNA 2516 [Gene - HGNC]
  • LINC02615:long intergenic non-protein coding RNA 2615 [Gene - HGNC]
  • LINC02945:long intergenic non-protein coding RNA 2945 [Gene - HGNC]
  • LINC00613:long intergenic non-protein coding RNA 613 [Gene - HGNC]
  • LEF1:lymphoid enhancer binding factor 1 [Gene - OMIM - HGNC]
  • MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]
  • MANBA:mannosidase beta [Gene - OMIM - HGNC]
  • METAP1:methionyl aminopeptidase 1 [Gene - OMIM - HGNC]
  • METTL14:methyltransferase 14, N6-adenosine-methyltransferase subunit [Gene - OMIM - HGNC]
  • MIR302CHG:miR-302/367 cluster host gene [Gene - HGNC]
  • MIR1243:microRNA 1243 [Gene - HGNC]
  • MIR1255A:microRNA 1255a [Gene - HGNC]
  • MIR1973:microRNA 1973 [Gene - HGNC]
  • MIR2054:microRNA 2054 [Gene - HGNC]
  • MIR297:microRNA 297 [Gene - OMIM - HGNC]
  • MIR302A:microRNA 302a [Gene - OMIM - HGNC]
  • MIR302B:microRNA 302b [Gene - OMIM - HGNC]
  • MIR302C:microRNA 302c [Gene - OMIM - HGNC]
  • MIR302D:microRNA 302d [Gene - OMIM - HGNC]
  • MIR367:microRNA 367 [Gene - OMIM - HGNC]
  • MIR3684:microRNA 3684 [Gene - HGNC]
  • MIR576:microRNA 576 [Gene - HGNC]
  • MIR577:microRNA 577 [Gene - HGNC]
  • MIR8066:microRNA 8066 [Gene - HGNC]
  • MIR8082:microRNA 8082 [Gene - HGNC]
  • MTTP:microsomal triglyceride transfer protein [Gene - OMIM - HGNC]
  • MCUB:mitochondrial calcium uniporter dominant negative subunit beta [Gene - HGNC]
  • MAD2L1:mitotic arrest deficient 2 like 1 [Gene - OMIM - HGNC]
  • MYOZ2:myozenin 2 [Gene - OMIM - HGNC]
  • NPNT:nephronectin [Gene - OMIM - HGNC]
  • NEUROG2:neurogenin 2 [Gene - OMIM - HGNC]
  • NDNF:neuron derived neurotrophic factor [Gene - OMIM - HGNC]
  • NFKB1:nuclear factor kappa B subunit 1 [Gene - OMIM - HGNC]
  • NUDT6:nudix hydrolase 6 [Gene - OMIM - HGNC]
  • OSTC:oligosaccharyltransferase complex non-catalytic subunit [Gene - OMIM - HGNC]
  • PITX2:paired like homeodomain 2 [Gene - OMIM - HGNC]
  • PDE5A:phosphodiesterase 5A [Gene - OMIM - HGNC]
  • PLA2G12A:phospholipase A2 group XIIA [Gene - OMIM - HGNC]
  • PLK4:polo like kinase 4 [Gene - OMIM - HGNC]
  • PABPC4L:poly(A) binding protein cytoplasmic 4 like [Gene - HGNC]
  • PGRMC2:progesterone receptor membrane component 2 [Gene - OMIM - HGNC]
  • PPP3CA:protein phosphatase 3 catalytic subunit alpha [Gene - OMIM - HGNC]
  • PCDH10:protocadherin 10 [Gene - OMIM - HGNC]
  • QRFPR:pyroglutamylated RFamide peptide receptor [Gene - OMIM - HGNC]
  • RRH:retinal pigment epithelium-derived rhodopsin homolog [Gene - OMIM - HGNC]
  • RPL34:ribosomal protein L34 [Gene - OMIM - HGNC]
  • PRSS12:serine protease 12 [Gene - OMIM - HGNC]
  • SMIM43:small integral membrane protein 43 [Gene - HGNC]
  • SNHG27:small nucleolar RNA host gene 27 [Gene - HGNC]
  • SNHG8:small nucleolar RNA host gene 8 [Gene - HGNC]
  • SNORA101A:small nucleolar RNA, H/ACA box 101A [Gene - HGNC]
  • SNORA24:small nucleolar RNA, H/ACA box 24 [Gene - HGNC]
  • SCLT1:sodium channel and clathrin linker 1 [Gene - OMIM - HGNC]
  • SLC25A31:solute carrier family 25 member 31 [Gene - OMIM - HGNC]
  • SLC39A8:solute carrier family 39 member 8 [Gene - OMIM - HGNC]
  • SLC9B1:solute carrier family 9 member B1 [Gene - OMIM - HGNC]
  • SLC9B2:solute carrier family 9 member B2 [Gene - OMIM - HGNC]
  • STPG2:sperm tail PG-rich repeat containing 2 [Gene - HGNC]
  • SGMS2:sphingomyelin synthase 2 [Gene - OMIM - HGNC]
  • SPRY1:sprouty RTK signaling antagonist 1 [Gene - OMIM - HGNC]
  • SYNPO2:synaptopodin 2 [Gene - HGNC]
  • TRMT10A:tRNA methyltransferase 10A [Gene - OMIM - HGNC]
  • TRC-GCA2-1:tRNA-Cys (anticodon GCA) 2-1 [Gene - HGNC]
  • TACR3:tachykinin receptor 3 [Gene - OMIM - HGNC]
  • TET2:tet methylcytosine dioxygenase 2 [Gene - OMIM - HGNC]
  • TSPAN5:tetraspanin 5 [Gene - OMIM - HGNC]
  • TRPC3:transient receptor potential cation channel subfamily C member 3 [Gene - OMIM - HGNC]
  • TRAM1L1:translocation associated membrane protein 1 like 1 [Gene - OMIM - HGNC]
  • UBE2D3:ubiquitin conjugating enzyme E2 D3 [Gene - OMIM - HGNC]
  • USP53:ubiquitin specific peptidase 53 [Gene - OMIM - HGNC]
  • PP12613:uncharacterized LOC100192379 [Gene]
  • LOC100507053:uncharacterized LOC100507053 [Gene]
  • LOC101927259:uncharacterized LOC101927259 [Gene]
  • LOC101929577:uncharacterized LOC101929577 [Gene]
  • LOC101929621:uncharacterized LOC101929621 [Gene]
  • LOC101929762:uncharacterized LOC101929762 [Gene]
  • LOC102723704:uncharacterized LOC102723704 [Gene]
  • LOC102725220:uncharacterized LOC102725220 [Gene]
  • LOC105377352:uncharacterized LOC105377352 [Gene]
  • LOC105377366:uncharacterized LOC105377366 [Gene]
  • LOC105377438:uncharacterized LOC105377438 [Gene]
  • LOC105377621:uncharacterized LOC105377621 [Gene]
  • LOC107986192:uncharacterized LOC107986192 [Gene]
  • FLJ20021:uncharacterized LOC90024 [Gene]
  • ZGRF1:zinc finger GRF-type containing 1 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
4q22.3-28.3
Genomic location:
Preferred name:
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3
HGVS:
  • NC_000004.12:g.(?_96092893)_(136410207_?)dup
  • NC_000004.10:g.(?_97233067)_(137550812_?)dup
  • NC_000004.11:g.(?_97014044)_(137331362_?)dup
Links:
dbVar: nssv578981; dbVar: nsv530296
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
SCV000079124GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000079124.4

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

Last Updated: Oct 14, 2023