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GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 17, 2012
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:
RCV000140816.7

Allele description [Variation Report for GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1]

GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1

Genes:
  • AAR2:AAR2 splicing factor [Gene - OMIM - HGNC]
  • LOC130065747:ATAC-STARR-seq lymphoblastoid active region 17775 [Gene]
  • LOC130065748:ATAC-STARR-seq lymphoblastoid active region 17776 [Gene]
  • LOC130065749:ATAC-STARR-seq lymphoblastoid active region 17777 [Gene]
  • LOC130065750:ATAC-STARR-seq lymphoblastoid active region 17778 [Gene]
  • LOC130065754:ATAC-STARR-seq lymphoblastoid active region 17779 [Gene]
  • LOC130065756:ATAC-STARR-seq lymphoblastoid active region 17783 [Gene]
  • LOC130065757:ATAC-STARR-seq lymphoblastoid active region 17784 [Gene]
  • LOC130065760:ATAC-STARR-seq lymphoblastoid active region 17785 [Gene]
  • LOC130065761:ATAC-STARR-seq lymphoblastoid active region 17786 [Gene]
  • LOC130065764:ATAC-STARR-seq lymphoblastoid active region 17787 [Gene]
  • LOC130065765:ATAC-STARR-seq lymphoblastoid active region 17789 [Gene]
  • LOC130065766:ATAC-STARR-seq lymphoblastoid active region 17790 [Gene]
  • LOC130065768:ATAC-STARR-seq lymphoblastoid active region 17795 [Gene]
  • LOC130065770:ATAC-STARR-seq lymphoblastoid active region 17798 [Gene]
  • LOC130065771:ATAC-STARR-seq lymphoblastoid active region 17799 [Gene]
  • LOC130065772:ATAC-STARR-seq lymphoblastoid active region 17800 [Gene]
  • LOC130065773:ATAC-STARR-seq lymphoblastoid active region 17801 [Gene]
  • LOC130065774:ATAC-STARR-seq lymphoblastoid active region 17802 [Gene]
  • LOC130065775:ATAC-STARR-seq lymphoblastoid active region 17803 [Gene]
  • LOC130065778:ATAC-STARR-seq lymphoblastoid active region 17804 [Gene]
  • LOC130065781:ATAC-STARR-seq lymphoblastoid active region 17805 [Gene]
  • LOC130065782:ATAC-STARR-seq lymphoblastoid active region 17807 [Gene]
  • LOC130065783:ATAC-STARR-seq lymphoblastoid active region 17808 [Gene]
  • LOC130065785:ATAC-STARR-seq lymphoblastoid active region 17809 [Gene]
  • LOC130065789:ATAC-STARR-seq lymphoblastoid active region 17810 [Gene]
  • LOC130065790:ATAC-STARR-seq lymphoblastoid active region 17811 [Gene]
  • LOC130065791:ATAC-STARR-seq lymphoblastoid active region 17812 [Gene]
  • LOC130065792:ATAC-STARR-seq lymphoblastoid active region 17813 [Gene]
  • LOC130065794:ATAC-STARR-seq lymphoblastoid active region 17814 [Gene]
  • LOC130065795:ATAC-STARR-seq lymphoblastoid active region 17819 [Gene]
  • LOC130065796:ATAC-STARR-seq lymphoblastoid active region 17820 [Gene]
  • LOC130065797:ATAC-STARR-seq lymphoblastoid active region 17821 [Gene]
  • LOC130065799:ATAC-STARR-seq lymphoblastoid active region 17822 [Gene]
  • LOC130065800:ATAC-STARR-seq lymphoblastoid active region 17823 [Gene]
  • LOC130065801:ATAC-STARR-seq lymphoblastoid active region 17824 [Gene]
  • LOC130065806:ATAC-STARR-seq lymphoblastoid active region 17825 [Gene]
  • LOC130065807:ATAC-STARR-seq lymphoblastoid active region 17826 [Gene]
  • LOC130065808:ATAC-STARR-seq lymphoblastoid active region 17827 [Gene]
  • LOC130065809:ATAC-STARR-seq lymphoblastoid active region 17829 [Gene]
  • LOC130065812:ATAC-STARR-seq lymphoblastoid active region 17832 [Gene]
  • LOC130065814:ATAC-STARR-seq lymphoblastoid active region 17833 [Gene]
  • LOC130065815:ATAC-STARR-seq lymphoblastoid active region 17834 [Gene]
  • LOC130065816:ATAC-STARR-seq lymphoblastoid active region 17836 [Gene]
  • LOC130065817:ATAC-STARR-seq lymphoblastoid active region 17837 [Gene]
  • LOC130065819:ATAC-STARR-seq lymphoblastoid active region 17838 [Gene]
  • LOC130065820:ATAC-STARR-seq lymphoblastoid active region 17839 [Gene]
  • LOC130065821:ATAC-STARR-seq lymphoblastoid active region 17840 [Gene]
  • LOC130065822:ATAC-STARR-seq lymphoblastoid active region 17841 [Gene]
  • LOC130065823:ATAC-STARR-seq lymphoblastoid active region 17842 [Gene]
  • LOC130065824:ATAC-STARR-seq lymphoblastoid active region 17843 [Gene]
  • LOC130065825:ATAC-STARR-seq lymphoblastoid active region 17844 [Gene]
  • LOC130065828:ATAC-STARR-seq lymphoblastoid active region 17845 [Gene]
  • LOC130065829:ATAC-STARR-seq lymphoblastoid active region 17848 [Gene]
  • LOC130065830:ATAC-STARR-seq lymphoblastoid active region 17849 [Gene]
  • LOC130065831:ATAC-STARR-seq lymphoblastoid active region 17850 [Gene]
  • LOC130065834:ATAC-STARR-seq lymphoblastoid active region 17851 [Gene]
  • LOC130065836:ATAC-STARR-seq lymphoblastoid active region 17852 [Gene]
  • LOC130065837:ATAC-STARR-seq lymphoblastoid active region 17853 [Gene]
  • LOC130065838:ATAC-STARR-seq lymphoblastoid active region 17855 [Gene]
  • LOC130065842:ATAC-STARR-seq lymphoblastoid active region 17856 [Gene]
  • LOC130065843:ATAC-STARR-seq lymphoblastoid active region 17857 [Gene]
  • LOC130065844:ATAC-STARR-seq lymphoblastoid active region 17858 [Gene]
  • LOC130065845:ATAC-STARR-seq lymphoblastoid active region 17859 [Gene]
  • LOC130065846:ATAC-STARR-seq lymphoblastoid active region 17860 [Gene]
  • LOC130065851:ATAC-STARR-seq lymphoblastoid active region 17862 [Gene]
  • LOC130065852:ATAC-STARR-seq lymphoblastoid active region 17863 [Gene]
  • LOC130065853:ATAC-STARR-seq lymphoblastoid active region 17864 [Gene]
  • LOC130065854:ATAC-STARR-seq lymphoblastoid active region 17865 [Gene]
  • LOC130065855:ATAC-STARR-seq lymphoblastoid active region 17866 [Gene]
  • LOC130065856:ATAC-STARR-seq lymphoblastoid active region 17867 [Gene]
  • LOC130065857:ATAC-STARR-seq lymphoblastoid active region 17868 [Gene]
  • LOC130065858:ATAC-STARR-seq lymphoblastoid active region 17869 [Gene]
  • LOC130065859:ATAC-STARR-seq lymphoblastoid active region 17870 [Gene]
  • LOC130065860:ATAC-STARR-seq lymphoblastoid active region 17871 [Gene]
  • LOC130065861:ATAC-STARR-seq lymphoblastoid active region 17872 [Gene]
  • LOC130065862:ATAC-STARR-seq lymphoblastoid active region 17873 [Gene]
  • LOC130065863:ATAC-STARR-seq lymphoblastoid active region 17874 [Gene]
  • LOC130065865:ATAC-STARR-seq lymphoblastoid active region 17875 [Gene]
  • LOC130065866:ATAC-STARR-seq lymphoblastoid active region 17876 [Gene]
  • LOC130065868:ATAC-STARR-seq lymphoblastoid active region 17877 [Gene]
  • LOC130065869:ATAC-STARR-seq lymphoblastoid active region 17878 [Gene]
  • LOC130065870:ATAC-STARR-seq lymphoblastoid active region 17879 [Gene]
  • LOC130065871:ATAC-STARR-seq lymphoblastoid active region 17880 [Gene]
  • LOC130065875:ATAC-STARR-seq lymphoblastoid active region 17881 [Gene]
  • LOC130065876:ATAC-STARR-seq lymphoblastoid active region 17882 [Gene]
  • LOC130065877:ATAC-STARR-seq lymphoblastoid active region 17883 [Gene]
  • LOC130065878:ATAC-STARR-seq lymphoblastoid active region 17884 [Gene]
  • LOC130065879:ATAC-STARR-seq lymphoblastoid active region 17885 [Gene]
  • LOC130065883:ATAC-STARR-seq lymphoblastoid active region 17886 [Gene]
  • LOC130065884:ATAC-STARR-seq lymphoblastoid active region 17887 [Gene]
  • LOC130065885:ATAC-STARR-seq lymphoblastoid active region 17889 [Gene]
  • LOC130065886:ATAC-STARR-seq lymphoblastoid active region 17890 [Gene]
  • LOC130065887:ATAC-STARR-seq lymphoblastoid active region 17891 [Gene]
  • LOC130065890:ATAC-STARR-seq lymphoblastoid active region 17892 [Gene]
  • LOC130065891:ATAC-STARR-seq lymphoblastoid active region 17893 [Gene]
  • LOC130065892:ATAC-STARR-seq lymphoblastoid active region 17894 [Gene]
  • LOC130065894:ATAC-STARR-seq lymphoblastoid active region 17895 [Gene]
  • LOC130065898:ATAC-STARR-seq lymphoblastoid active region 17896 [Gene]
  • LOC130065899:ATAC-STARR-seq lymphoblastoid active region 17897 [Gene]
  • LOC130065900:ATAC-STARR-seq lymphoblastoid active region 17898 [Gene]
  • LOC130065901:ATAC-STARR-seq lymphoblastoid active region 17899 [Gene]
  • LOC130065903:ATAC-STARR-seq lymphoblastoid active region 17900 [Gene]
  • LOC130065904:ATAC-STARR-seq lymphoblastoid active region 17901 [Gene]
  • LOC130065907:ATAC-STARR-seq lymphoblastoid active region 17904 [Gene]
  • LOC130065908:ATAC-STARR-seq lymphoblastoid active region 17905 [Gene]
  • LOC130065909:ATAC-STARR-seq lymphoblastoid active region 17906 [Gene]
  • LOC130065910:ATAC-STARR-seq lymphoblastoid active region 17907 [Gene]
  • LOC130065911:ATAC-STARR-seq lymphoblastoid active region 17908 [Gene]
  • LOC130065912:ATAC-STARR-seq lymphoblastoid active region 17909 [Gene]
  • LOC130065914:ATAC-STARR-seq lymphoblastoid active region 17910 [Gene]
  • LOC130065915:ATAC-STARR-seq lymphoblastoid active region 17911 [Gene]
  • LOC130065916:ATAC-STARR-seq lymphoblastoid active region 17912 [Gene]
  • LOC130065917:ATAC-STARR-seq lymphoblastoid active region 17913 [Gene]
  • LOC130065918:ATAC-STARR-seq lymphoblastoid active region 17914 [Gene]
  • LOC130065919:ATAC-STARR-seq lymphoblastoid active region 17915 [Gene]
  • LOC130065922:ATAC-STARR-seq lymphoblastoid active region 17916 [Gene]
  • LOC130065923:ATAC-STARR-seq lymphoblastoid active region 17918 [Gene]
  • LOC130065924:ATAC-STARR-seq lymphoblastoid active region 17920 [Gene]
  • LOC130065928:ATAC-STARR-seq lymphoblastoid active region 17923 [Gene]
  • LOC130065929:ATAC-STARR-seq lymphoblastoid active region 17924 [Gene]
  • LOC130065931:ATAC-STARR-seq lymphoblastoid active region 17925 [Gene]
  • LOC130065932:ATAC-STARR-seq lymphoblastoid active region 17927 [Gene]
  • LOC130065933:ATAC-STARR-seq lymphoblastoid active region 17928 [Gene]
  • LOC130065934:ATAC-STARR-seq lymphoblastoid active region 17929 [Gene]
  • LOC130065935:ATAC-STARR-seq lymphoblastoid active region 17930 [Gene]
  • LOC130065936:ATAC-STARR-seq lymphoblastoid active region 17931 [Gene]
  • LOC130065937:ATAC-STARR-seq lymphoblastoid active region 17932 [Gene]
  • LOC130065938:ATAC-STARR-seq lymphoblastoid active region 17933 [Gene]
  • LOC130065942:ATAC-STARR-seq lymphoblastoid active region 17939 [Gene]
  • LOC130065943:ATAC-STARR-seq lymphoblastoid active region 17940 [Gene]
  • LOC130065946:ATAC-STARR-seq lymphoblastoid active region 17941 [Gene]
  • LOC130065947:ATAC-STARR-seq lymphoblastoid active region 17942 [Gene]
  • LOC130065948:ATAC-STARR-seq lymphoblastoid active region 17943 [Gene]
  • LOC130065951:ATAC-STARR-seq lymphoblastoid active region 17944 [Gene]
  • LOC130065954:ATAC-STARR-seq lymphoblastoid active region 17945 [Gene]
  • LOC130065957:ATAC-STARR-seq lymphoblastoid active region 17946 [Gene]
  • LOC130065958:ATAC-STARR-seq lymphoblastoid active region 17947 [Gene]
  • LOC130065959:ATAC-STARR-seq lymphoblastoid active region 17948 [Gene]
  • LOC130065961:ATAC-STARR-seq lymphoblastoid active region 17949 [Gene]
  • LOC130065962:ATAC-STARR-seq lymphoblastoid active region 17950 [Gene]
  • LOC130065963:ATAC-STARR-seq lymphoblastoid active region 17951 [Gene]
  • LOC130065972:ATAC-STARR-seq lymphoblastoid active region 17952 [Gene]
  • LOC130065973:ATAC-STARR-seq lymphoblastoid active region 17953 [Gene]
  • LOC130065974:ATAC-STARR-seq lymphoblastoid active region 17954 [Gene]
  • LOC130065975:ATAC-STARR-seq lymphoblastoid active region 17955 [Gene]
  • LOC130065977:ATAC-STARR-seq lymphoblastoid active region 17956 [Gene]
  • LOC130065981:ATAC-STARR-seq lymphoblastoid active region 17957 [Gene]
  • LOC130065982:ATAC-STARR-seq lymphoblastoid active region 17959 [Gene]
  • LOC130065983:ATAC-STARR-seq lymphoblastoid active region 17960 [Gene]
  • LOC130065984:ATAC-STARR-seq lymphoblastoid active region 17961 [Gene]
  • LOC130065985:ATAC-STARR-seq lymphoblastoid active region 17962 [Gene]
  • LOC130065986:ATAC-STARR-seq lymphoblastoid active region 17965 [Gene]
  • LOC130065987:ATAC-STARR-seq lymphoblastoid active region 17966 [Gene]
  • LOC130065988:ATAC-STARR-seq lymphoblastoid active region 17967 [Gene]
  • LOC130065990:ATAC-STARR-seq lymphoblastoid active region 17968 [Gene]
  • LOC130065992:ATAC-STARR-seq lymphoblastoid active region 17971 [Gene]
  • LOC130065993:ATAC-STARR-seq lymphoblastoid active region 17973 [Gene]
  • LOC130065994:ATAC-STARR-seq lymphoblastoid active region 17974 [Gene]
  • LOC130065995:ATAC-STARR-seq lymphoblastoid active region 17976 [Gene]
  • LOC130065996:ATAC-STARR-seq lymphoblastoid active region 17977 [Gene]
  • LOC130065998:ATAC-STARR-seq lymphoblastoid active region 17978 [Gene]
  • LOC130065999:ATAC-STARR-seq lymphoblastoid active region 17979 [Gene]
  • LOC130066000:ATAC-STARR-seq lymphoblastoid active region 17980 [Gene]
  • LOC130066001:ATAC-STARR-seq lymphoblastoid active region 17981 [Gene]
  • LOC130066002:ATAC-STARR-seq lymphoblastoid active region 17982 [Gene]
  • LOC130066003:ATAC-STARR-seq lymphoblastoid active region 17983 [Gene]
  • LOC130066004:ATAC-STARR-seq lymphoblastoid active region 17984 [Gene]
  • LOC130066005:ATAC-STARR-seq lymphoblastoid active region 17989 [Gene]
  • LOC130066006:ATAC-STARR-seq lymphoblastoid active region 17990 [Gene]
  • LOC130066007:ATAC-STARR-seq lymphoblastoid active region 17991 [Gene]
  • LOC130066008:ATAC-STARR-seq lymphoblastoid active region 17992 [Gene]
  • LOC130066009:ATAC-STARR-seq lymphoblastoid active region 17993 [Gene]
  • LOC130066010:ATAC-STARR-seq lymphoblastoid active region 17994 [Gene]
  • LOC130066012:ATAC-STARR-seq lymphoblastoid active region 17995 [Gene]
  • LOC130066013:ATAC-STARR-seq lymphoblastoid active region 17996 [Gene]
  • LOC130066014:ATAC-STARR-seq lymphoblastoid active region 17997 [Gene]
  • LOC130066015:ATAC-STARR-seq lymphoblastoid active region 17998 [Gene]
  • LOC130066016:ATAC-STARR-seq lymphoblastoid active region 17999 [Gene]
  • LOC130065751:ATAC-STARR-seq lymphoblastoid silent region 12854 [Gene]
  • LOC130065752:ATAC-STARR-seq lymphoblastoid silent region 12855 [Gene]
  • LOC130065753:ATAC-STARR-seq lymphoblastoid silent region 12856 [Gene]
  • LOC130065755:ATAC-STARR-seq lymphoblastoid silent region 12857 [Gene]
  • LOC130065758:ATAC-STARR-seq lymphoblastoid silent region 12858 [Gene]
  • LOC130065759:ATAC-STARR-seq lymphoblastoid silent region 12859 [Gene]
  • LOC130065762:ATAC-STARR-seq lymphoblastoid silent region 12860 [Gene]
  • LOC130065763:ATAC-STARR-seq lymphoblastoid silent region 12861 [Gene]
  • LOC130065767:ATAC-STARR-seq lymphoblastoid silent region 12863 [Gene]
  • LOC130065769:ATAC-STARR-seq lymphoblastoid silent region 12864 [Gene]
  • LOC130065776:ATAC-STARR-seq lymphoblastoid silent region 12866 [Gene]
  • LOC130065777:ATAC-STARR-seq lymphoblastoid silent region 12867 [Gene]
  • LOC130065779:ATAC-STARR-seq lymphoblastoid silent region 12869 [Gene]
  • LOC130065780:ATAC-STARR-seq lymphoblastoid silent region 12870 [Gene]
  • LOC130065784:ATAC-STARR-seq lymphoblastoid silent region 12872 [Gene]
  • LOC130065786:ATAC-STARR-seq lymphoblastoid silent region 12873 [Gene]
  • LOC130065787:ATAC-STARR-seq lymphoblastoid silent region 12874 [Gene]
  • LOC130065788:ATAC-STARR-seq lymphoblastoid silent region 12875 [Gene]
  • LOC130065793:ATAC-STARR-seq lymphoblastoid silent region 12876 [Gene]
  • LOC130065798:ATAC-STARR-seq lymphoblastoid silent region 12879 [Gene]
  • LOC130065802:ATAC-STARR-seq lymphoblastoid silent region 12880 [Gene]
  • LOC130065803:ATAC-STARR-seq lymphoblastoid silent region 12881 [Gene]
  • LOC130065804:ATAC-STARR-seq lymphoblastoid silent region 12882 [Gene]
  • LOC130065805:ATAC-STARR-seq lymphoblastoid silent region 12883 [Gene]
  • LOC130065810:ATAC-STARR-seq lymphoblastoid silent region 12886 [Gene]
  • LOC130065811:ATAC-STARR-seq lymphoblastoid silent region 12887 [Gene]
  • LOC130065813:ATAC-STARR-seq lymphoblastoid silent region 12888 [Gene]
  • LOC130065818:ATAC-STARR-seq lymphoblastoid silent region 12889 [Gene]
  • LOC130065826:ATAC-STARR-seq lymphoblastoid silent region 12891 [Gene]
  • LOC130065827:ATAC-STARR-seq lymphoblastoid silent region 12892 [Gene]
  • LOC130065832:ATAC-STARR-seq lymphoblastoid silent region 12893 [Gene]
  • LOC130065833:ATAC-STARR-seq lymphoblastoid silent region 12894 [Gene]
  • LOC130065835:ATAC-STARR-seq lymphoblastoid silent region 12895 [Gene]
  • LOC130065839:ATAC-STARR-seq lymphoblastoid silent region 12896 [Gene]
  • LOC130065840:ATAC-STARR-seq lymphoblastoid silent region 12897 [Gene]
  • LOC130065841:ATAC-STARR-seq lymphoblastoid silent region 12898 [Gene]
  • LOC130065847:ATAC-STARR-seq lymphoblastoid silent region 12899 [Gene]
  • LOC130065848:ATAC-STARR-seq lymphoblastoid silent region 12900 [Gene]
  • LOC130065849:ATAC-STARR-seq lymphoblastoid silent region 12901 [Gene]
  • LOC130065850:ATAC-STARR-seq lymphoblastoid silent region 12905 [Gene]
  • LOC130065864:ATAC-STARR-seq lymphoblastoid silent region 12907 [Gene]
  • LOC130065867:ATAC-STARR-seq lymphoblastoid silent region 12908 [Gene]
  • LOC130065872:ATAC-STARR-seq lymphoblastoid silent region 12909 [Gene]
  • LOC130065873:ATAC-STARR-seq lymphoblastoid silent region 12910 [Gene]
  • LOC130065874:ATAC-STARR-seq lymphoblastoid silent region 12911 [Gene]
  • LOC130065880:ATAC-STARR-seq lymphoblastoid silent region 12912 [Gene]
  • LOC130065881:ATAC-STARR-seq lymphoblastoid silent region 12913 [Gene]
  • LOC130065882:ATAC-STARR-seq lymphoblastoid silent region 12914 [Gene]
  • LOC130065888:ATAC-STARR-seq lymphoblastoid silent region 12917 [Gene]
  • LOC130065889:ATAC-STARR-seq lymphoblastoid silent region 12918 [Gene]
  • LOC130065893:ATAC-STARR-seq lymphoblastoid silent region 12919 [Gene]
  • LOC130065895:ATAC-STARR-seq lymphoblastoid silent region 12920 [Gene]
  • LOC130065896:ATAC-STARR-seq lymphoblastoid silent region 12921 [Gene]
  • LOC130065897:ATAC-STARR-seq lymphoblastoid silent region 12922 [Gene]
  • LOC130065902:ATAC-STARR-seq lymphoblastoid silent region 12923 [Gene]
  • LOC130065905:ATAC-STARR-seq lymphoblastoid silent region 12926 [Gene]
  • LOC130065906:ATAC-STARR-seq lymphoblastoid silent region 12927 [Gene]
  • LOC130065913:ATAC-STARR-seq lymphoblastoid silent region 12930 [Gene]
  • LOC130065920:ATAC-STARR-seq lymphoblastoid silent region 12935 [Gene]
  • LOC130065921:ATAC-STARR-seq lymphoblastoid silent region 12936 [Gene]
  • LOC130065925:ATAC-STARR-seq lymphoblastoid silent region 12937 [Gene]
  • LOC130065926:ATAC-STARR-seq lymphoblastoid silent region 12938 [Gene]
  • LOC130065927:ATAC-STARR-seq lymphoblastoid silent region 12940 [Gene]
  • LOC130065930:ATAC-STARR-seq lymphoblastoid silent region 12941 [Gene]
  • LOC130065939:ATAC-STARR-seq lymphoblastoid silent region 12945 [Gene]
  • LOC130065940:ATAC-STARR-seq lymphoblastoid silent region 12946 [Gene]
  • LOC130065941:ATAC-STARR-seq lymphoblastoid silent region 12947 [Gene]
  • LOC130065944:ATAC-STARR-seq lymphoblastoid silent region 12948 [Gene]
  • LOC130065945:ATAC-STARR-seq lymphoblastoid silent region 12950 [Gene]
  • LOC130065949:ATAC-STARR-seq lymphoblastoid silent region 12951 [Gene]
  • LOC130065950:ATAC-STARR-seq lymphoblastoid silent region 12952 [Gene]
  • LOC130065952:ATAC-STARR-seq lymphoblastoid silent region 12953 [Gene]
  • LOC130065953:ATAC-STARR-seq lymphoblastoid silent region 12954 [Gene]
  • LOC130065955:ATAC-STARR-seq lymphoblastoid silent region 12955 [Gene]
  • LOC130065956:ATAC-STARR-seq lymphoblastoid silent region 12956 [Gene]
  • LOC130065960:ATAC-STARR-seq lymphoblastoid silent region 12957 [Gene]
  • LOC130065964:ATAC-STARR-seq lymphoblastoid silent region 12958 [Gene]
  • LOC130065965:ATAC-STARR-seq lymphoblastoid silent region 12959 [Gene]
  • LOC130065966:ATAC-STARR-seq lymphoblastoid silent region 12960 [Gene]
  • LOC130065967:ATAC-STARR-seq lymphoblastoid silent region 12961 [Gene]
  • LOC130065968:ATAC-STARR-seq lymphoblastoid silent region 12962 [Gene]
  • LOC130065969:ATAC-STARR-seq lymphoblastoid silent region 12963 [Gene]
  • LOC130065970:ATAC-STARR-seq lymphoblastoid silent region 12964 [Gene]
  • LOC130065971:ATAC-STARR-seq lymphoblastoid silent region 12965 [Gene]
  • LOC130065976:ATAC-STARR-seq lymphoblastoid silent region 12968 [Gene]
  • LOC130065978:ATAC-STARR-seq lymphoblastoid silent region 12969 [Gene]
  • LOC130065979:ATAC-STARR-seq lymphoblastoid silent region 12970 [Gene]
  • LOC130065980:ATAC-STARR-seq lymphoblastoid silent region 12971 [Gene]
  • LOC130065989:ATAC-STARR-seq lymphoblastoid silent region 12973 [Gene]
  • LOC130065991:ATAC-STARR-seq lymphoblastoid silent region 12974 [Gene]
  • LOC130065997:ATAC-STARR-seq lymphoblastoid silent region 12976 [Gene]
  • LOC130066011:ATAC-STARR-seq lymphoblastoid silent region 12977 [Gene]
  • LOC130066017:ATAC-STARR-seq lymphoblastoid silent region 12978 [Gene]
  • LOC130066018:ATAC-STARR-seq lymphoblastoid silent region 12979 [Gene]
  • LOC130066019:ATAC-STARR-seq lymphoblastoid silent region 12980 [Gene]
  • BLCAP:BLCAP apoptosis inducing factor [Gene - OMIM - HGNC]
  • LOC126863021:BRD4-independent group 4 enhancer GRCh37_chr20:34799860-34801059 [Gene]
  • LOC126863025:BRD4-independent group 4 enhancer GRCh37_chr20:36845917-36847116 [Gene]
  • LOC126863026:BRD4-independent group 4 enhancer GRCh37_chr20:36962737-36963936 [Gene]
  • LOC126863027:BRD4-independent group 4 enhancer GRCh37_chr20:37736157-37737356 [Gene]
  • LOC126863036:BRD4-independent group 4 enhancer GRCh37_chr20:43385377-43386576 [Gene]
  • LOC126863037:BRD4-independent group 4 enhancer GRCh37_chr20:43803133-43804332 [Gene]
  • LOC126863040:BRD4-independent group 4 enhancer GRCh37_chr20:45431640-45432839 [Gene]
  • LOC126863041:BRD4-independent group 4 enhancer GRCh37_chr20:45529211-45530410 [Gene]
  • CD40:CD40 molecule [Gene - OMIM - HGNC]
  • LOC126863022:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:34858840-34860039 [Gene]
  • LOC126863029:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:38428967-38430166 [Gene]
  • LOC126863032:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:41379572-41380771 [Gene]
  • LOC125387274:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:41614665-41615864 [Gene]
  • CEP250-AS1:CEP250 antisense RNA 1 [Gene - HGNC]
  • LOC127893450:CRISPRi-FlowFISH-validated CD40 regulatory element GRCh37_chr20:44746135-44748232 [Gene]
  • LOC116286206:CRISPRi-validated cis-regulatory element chr20.2032 [Gene]
  • LOC116286207:CRISPRi-validated cis-regulatory element chr20.2033 [Gene]
  • LOC116286208:CRISPRi-validated cis-regulatory element chr20.2047 [Gene]
  • DHX35:DEAH-box helicase 35 [Gene - HGNC]
  • DLGAP4:DLG associated protein 4 [Gene - OMIM - HGNC]
  • DLGAP4-AS1:DLGAP4 antisense RNA 1 [Gene - HGNC]
  • TOP1:DNA topoisomerase I [Gene - OMIM - HGNC]
  • DSN1:DSN1 component of MIS12 kinetochore complex [Gene - OMIM - HGNC]
  • EPB41L1-AS1:EPB41L1 antisense RNA 1 [Gene - HGNC]
  • EPPIN-WFDC6:EPPIN-WFDC6 readthrough [Gene - HGNC]
  • ERGIC3:ERGIC and golgi 3 [Gene - OMIM - HGNC]
  • EYA2:EYA transcriptional coactivator and phosphatase 2 [Gene - OMIM - HGNC]
  • EYA2-AS1:EYA2 antisense RNA 1 [Gene - HGNC]
  • FAM83C-AS1:FAM83C antisense RNA 1 [Gene - HGNC]
  • LOC111365218:GATA motif-containing MPRA enhancer 112/113 [Gene]
  • GDF5-AS1:GDF5 antisense RNA 1 [Gene - HGNC]
  • LOC109461476:GDF5 promoter region [Gene]
  • HNF4A-AS1:HNF4A antisense RNA 1 [Gene - HGNC]
  • LOC108353820:JPH2 intron CAGE-defined T cell enhancer [Gene]
  • KCNK15-AS1:KCNK15 and WISP2 antisense RNA 1 [Gene - HGNC]
  • KIAA1755:KIAA1755 [Gene - HGNC]
  • L3MBTL1:L3MBTL histone methyl-lysine binding protein 1 [Gene - OMIM - HGNC]
  • MAFB:MAF bZIP transcription factor B [Gene - OMIM - HGNC]
  • LOC126863020:MED14-independent group 3 enhancer GRCh37_chr20:34637879-34639078 [Gene]
  • LOC126863023:MED14-independent group 3 enhancer GRCh37_chr20:35235327-35236526 [Gene]
  • LOC126863024:MED14-independent group 3 enhancer GRCh37_chr20:36416862-36418061 [Gene]
  • LOC126863028:MED14-independent group 3 enhancer GRCh37_chr20:38290050-38291249 [Gene]
  • LOC126863034:MED14-independent group 3 enhancer GRCh37_chr20:42832370-42833569 [Gene]
  • LOC126863038:MED14-independent group 3 enhancer GRCh37_chr20:44572602-44573801 [Gene]
  • LOC126863039:MED14-independent group 3 enhancer GRCh37_chr20:45405530-45406729 [Gene]
  • MMP24OS:MMP24 opposite strand [Gene - HGNC]
  • MMP24-AS1-EDEM2:MMP24-AS1-EDEM2 readthrough [Gene]
  • LOC129391168:MPRA-validated peak4201 silencer [Gene]
  • LOC129391169:MPRA-validated peak4202 silencer [Gene]
  • LOC129391170:MPRA-validated peak4203 silencer [Gene]
  • LOC129391171:MPRA-validated peak4204 silencer [Gene]
  • LOC129391172:MPRA-validated peak4207 silencer [Gene]
  • LOC129391173:MPRA-validated peak4208 silencer [Gene]
  • LOC129391174:MPRA-validated peak4211 silencer [Gene]
  • LOC129391175:MPRA-validated peak4213 silencer [Gene]
  • LOC129391176:MPRA-validated peak4214 silencer [Gene]
  • LOC129391177:MPRA-validated peak4218 silencer [Gene]
  • LOC129391178:MPRA-validated peak4219 silencer [Gene]
  • LOC129391179:MPRA-validated peak4221 silencer [Gene]
  • LOC129391180:MPRA-validated peak4224 silencer [Gene]
  • LOC129391181:MPRA-validated peak4226 silencer [Gene]
  • LOC129391182:MPRA-validated peak4229 silencer [Gene]
  • LOC129391183:MPRA-validated peak4230 silencer [Gene]
  • LOC129391184:MPRA-validated peak4231 silencer [Gene]
  • LOC129391185:MPRA-validated peak4234 silencer [Gene]
  • MYBL2:MYB proto-oncogene like 2 [Gene - OMIM - HGNC]
  • NDRG3:NDRG family member 3 [Gene - OMIM - HGNC]
  • LOC111562371:NFE2L2 motif-containing MPRA enhancer 172 [Gene]
  • NFS1:NFS1 cysteine desulfurase [Gene - OMIM - HGNC]
  • LOC132090577:Neanderthal introgressed variant-containing enhancer experimental_60389 [Gene]
  • LOC132090578:Neanderthal introgressed variant-containing enhancer experimental_60411 [Gene]
  • LOC132090579:Neanderthal introgressed variant-containing enhancer experimental_60428 [Gene]
  • OSER1-DT:OSER1 divergent transcript [Gene - HGNC]
  • LOC112694707:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:33893217-33894416 [Gene]
  • LOC126863030:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:39631901-39633100 [Gene]
  • LOC126863031:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:39686360-39687559 [Gene]
  • LOC126863033:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:42583279-42584478 [Gene]
  • LOC126863035:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:43124829-43126028 [Gene]
  • LOC126863042:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:45945484-45946683 [Gene]
  • PHF20:PHD finger protein 20 [Gene - OMIM - HGNC]
  • LOC108254667:PHF20 intron CAGE-defined high expression enhancer [Gene]
  • PLCG1-AS1:PLCG1 antisense RNA 1 [Gene - HGNC]
  • PTPRT-AS1:PTPRT antisense RNA 1 [Gene - HGNC]
  • PTPRT-DT:PTPRT divergent transcript [Gene - HGNC]
  • R3HDML:R3H domain containing like [Gene - HGNC]
  • R3HDML-AS1:R3HDML antisense RNA 1 [Gene - HGNC]
  • RAB5IF:RAB5 interacting factor [Gene - OMIM - HGNC]
  • RBL1:RB transcriptional corepressor like 1 [Gene - OMIM - HGNC]
  • RBM12:RNA binding motif protein 12 [Gene - OMIM - HGNC]
  • RBM39:RNA binding motif protein 39 [Gene - OMIM - HGNC]
  • RALGAPB:Ral GTPase activating protein non-catalytic subunit beta [Gene - OMIM - HGNC]
  • ARHGAP40:Rho GTPase activating protein 40 [Gene - HGNC]
  • SAMHD1:SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [Gene - OMIM - HGNC]
  • SCAND1:SCAN domain containing 1 [Gene - OMIM - HGNC]
  • SLC12A5-AS1:SLC12A5 and MMP9 antisense RNA 1 [Gene - HGNC]
  • SRC:SRC proto-oncogene, non-receptor tyrosine kinase [Gene - OMIM - HGNC]
  • STK4-DT:STK4 divergent transcript [Gene - HGNC]
  • SYS1:SYS1 golgi trafficking protein [Gene - OMIM - HGNC]
  • SYS1-DBNDD2:SYS1-DBNDD2 readthrough (NMD candidate) [Gene - HGNC]
  • LOC125387282:Sharpr-MPRA regulatory region 10107 [Gene]
  • LOC121853008:Sharpr-MPRA regulatory region 10402 [Gene]
  • LOC112694711:Sharpr-MPRA regulatory region 10482 [Gene]
  • LOC112694717:Sharpr-MPRA regulatory region 12423 [Gene]
  • LOC121627906:Sharpr-MPRA regulatory region 12827 [Gene]
  • LOC113960610:Sharpr-MPRA regulatory region 13245 [Gene]
  • LOC125387279:Sharpr-MPRA regulatory region 13247 [Gene]
  • LOC113960609:Sharpr-MPRA regulatory region 13448 [Gene]
  • LOC125387268:Sharpr-MPRA regulatory region 13539 [Gene]
  • LOC112694709:Sharpr-MPRA regulatory region 13566 [Gene]
  • LOC125387272:Sharpr-MPRA regulatory region 13693 [Gene]
  • LOC125387278:Sharpr-MPRA regulatory region 14031 [Gene]
  • LOC121853004:Sharpr-MPRA regulatory region 14546 [Gene]
  • LOC125387276:Sharpr-MPRA regulatory region 14821 [Gene]
  • LOC125387271:Sharpr-MPRA regulatory region 14849 [Gene]
  • LOC112694710:Sharpr-MPRA regulatory region 15217 [Gene]
  • LOC125387281:Sharpr-MPRA regulatory region 15539 [Gene]
  • LOC121853006:Sharpr-MPRA regulatory region 2194 [Gene]
  • LOC125387265:Sharpr-MPRA regulatory region 2555 [Gene]
  • LOC125387275:Sharpr-MPRA regulatory region 2613 [Gene]
  • LOC125387269:Sharpr-MPRA regulatory region 2618 [Gene]
  • LOC112694708:Sharpr-MPRA regulatory region 2694 [Gene]
  • LOC113960611:Sharpr-MPRA regulatory region 3425 [Gene]
  • LOC125387280:Sharpr-MPRA regulatory region 3506 [Gene]
  • LOC121853007:Sharpr-MPRA regulatory region 3924 [Gene]
  • LOC125387264:Sharpr-MPRA regulatory region 3991 [Gene]
  • LOC125387273:Sharpr-MPRA regulatory region 432 [Gene]
  • LOC121853005:Sharpr-MPRA regulatory region 4490 [Gene]
  • LOC114004352:Sharpr-MPRA regulatory region 5760 [Gene]
  • LOC125387277:Sharpr-MPRA regulatory region 6194 [Gene]
  • LOC125387263:Sharpr-MPRA regulatory region 6334 [Gene]
  • LOC112694714:Sharpr-MPRA regulatory region 6747 [Gene]
  • LOC112694715:Sharpr-MPRA regulatory region 7745 [Gene]
  • LOC112694716:Sharpr-MPRA regulatory region 7879 [Gene]
  • LOC112694718:Sharpr-MPRA regulatory region 8686 [Gene]
  • LOC125387267:Sharpr-MPRA regulatory region 9458 [Gene]
  • SLA2:Src like adaptor 2 [Gene - OMIM - HGNC]
  • TLDC2:TBC/LysM-associated domain containing 2 [Gene - HGNC]
  • TTI1:TELO2 interacting protein 1 [Gene - OMIM - HGNC]
  • TGIF2:TGFB induced factor homeobox 2 [Gene - OMIM - HGNC]
  • TGIF2-RAB5IF:TGIF2-RAB5IF readthrough [Gene - HGNC]
  • TOX2:TOX high mobility group box family member 2 [Gene - OMIM - HGNC]
  • TP53RK:TP53 regulating kinase [Gene - OMIM - HGNC]
  • TP53TG5:TP53 target 5 [Gene - OMIM - HGNC]
  • TP53RK-DT:TP53RK divergent transcript [Gene - HGNC]
  • VSTM2L:V-set and transmembrane domain containing 2 like [Gene - OMIM - HGNC]
  • LOC110121317:VISTA enhancer hs1042 [Gene]
  • LOC110121321:VISTA enhancer hs1086 [Gene]
  • LOC120285842:VISTA enhancer hs2620 [Gene]
  • WFDC10A:WAP four-disulfide core domain 10A [Gene - HGNC]
  • WFDC10B:WAP four-disulfide core domain 10B [Gene - HGNC]
  • WFDC11:WAP four-disulfide core domain 11 [Gene - HGNC]
  • WFDC12:WAP four-disulfide core domain 12 [Gene - OMIM - HGNC]
  • WFDC13:WAP four-disulfide core domain 13 [Gene - HGNC]
  • WFDC2:WAP four-disulfide core domain 2 [Gene - OMIM - HGNC]
  • WFDC3:WAP four-disulfide core domain 3 [Gene - HGNC]
  • WFDC5:WAP four-disulfide core domain 5 [Gene - OMIM - HGNC]
  • WFDC6:WAP four-disulfide core domain 6 [Gene - HGNC]
  • WFDC8:WAP four-disulfide core domain 8 [Gene - HGNC]
  • WFDC9:WAP four-disulfide core domain 9 [Gene - HGNC]
  • ACTR5:actin related protein 5 [Gene - OMIM - HGNC]
  • ACOT8:acyl-CoA thioesterase 8 [Gene - OMIM - HGNC]
  • LOC107303343:adenosine deaminase intronic regulatory elements [Gene]
  • ADA:adenosine deaminase [Gene - OMIM - HGNC]
  • ADIG:adipogenin [Gene - OMIM - HGNC]
  • TTPAL:alpha tocopherol transfer protein like [Gene - HGNC]
  • BPI:bactericidal permeability increasing protein [Gene - OMIM - HGNC]
  • PKIG:cAMP-dependent protein kinase inhibitor gamma [Gene - OMIM - HGNC]
  • CDH22:cadherin 22 [Gene - OMIM - HGNC]
  • CTNNBL1:catenin beta like 1 [Gene - OMIM - HGNC]
  • CTSA:cathepsin A [Gene - OMIM - HGNC]
  • CCN5:cellular communication network factor 5 [Gene - OMIM - HGNC]
  • CEP250:centrosomal protein 250 [Gene - OMIM - HGNC]
  • CHD6:chromodomain helicase DNA binding protein 6 [Gene - OMIM - HGNC]
  • C20orf173:chromosome 20 open reading frame 173 [Gene - HGNC]
  • CPNE1:copine 1 [Gene - OMIM - HGNC]
  • CNBD2:cyclic nucleotide binding domain containing 2 [Gene - HGNC]
  • DNTTIP1:deoxynucleotidyltransferase terminal interacting protein 1 [Gene - OMIM - HGNC]
  • LOC108167312:distal ADA Alu-mediated recombination region [Gene]
  • DBNDD2:dysbindin domain containing 2 [Gene - OMIM - HGNC]
  • EMILIN3:elastin microfibril interfacer 3 [Gene - OMIM - HGNC]
  • ELMO2:engulfment and cell motility 2 [Gene - OMIM - HGNC]
  • EPPIN:epididymal peptidase inhibitor [Gene - OMIM - HGNC]
  • EPB41L1:erythrocyte membrane protein band 4.1 like 1 [Gene - OMIM - HGNC]
  • EIF6:eukaryotic translation initiation factor 6 [Gene - OMIM - HGNC]
  • FAM83C:family with sequence similarity 83 member C [Gene - HGNC]
  • FAM83D:family with sequence similarity 83 member D [Gene - OMIM - HGNC]
  • FITM2:fat storage inducing transmembrane protein 2 [Gene - OMIM - HGNC]
  • GTSF1L:gametocyte specific factor 1 like [Gene - HGNC]
  • GDAP1L1:ganglioside induced differentiation associated protein 1 like 1 [Gene - HGNC]
  • GDF5:growth differentiation factor 5 [Gene - OMIM - HGNC]
  • GHRH:growth hormone releasing hormone [Gene - OMIM - HGNC]
  • HNF4A:hepatocyte nuclear factor 4 alpha [Gene - OMIM - HGNC]
  • IFT52:intraflagellar transport 52 [Gene - OMIM - HGNC]
  • JPH2:junctophilin 2 [Gene - OMIM - HGNC]
  • LPIN3:lipin 3 [Gene - OMIM - HGNC]
  • LBP:lipopolysaccharide binding protein [Gene - OMIM - HGNC]
  • LINC01260:long intergenic non-protein coding RNA 1260 [Gene - HGNC]
  • LINC01370:long intergenic non-protein coding RNA 1370 [Gene - OMIM - HGNC]
  • LINC01430:long intergenic non-protein coding RNA 1430 [Gene - HGNC]
  • LINC01620:long intergenic non-protein coding RNA 1620 [Gene - HGNC]
  • LINC01728:long intergenic non-protein coding RNA 1728 [Gene - HGNC]
  • LINC01734:long intergenic non-protein coding RNA 1734 [Gene - HGNC]
  • LINC01746:long intergenic non-protein coding RNA 1746 [Gene - HGNC]
  • LINC01754:long intergenic non-protein coding RNA 1754 [Gene - HGNC]
  • LINC02597:long intergenic non-protein coding RNA 2597 [Gene - HGNC]
  • LINC00489:long intergenic non-protein coding RNA 489 [Gene - HGNC]
  • MROH8:maestro heat like repeat family member 8 [Gene - HGNC]
  • MANBAL:mannosidase beta like [Gene - HGNC]
  • MATN4:matrilin 4 [Gene - OMIM - HGNC]
  • MMP24:matrix metallopeptidase 24 [Gene - OMIM - HGNC]
  • MMP9:matrix metallopeptidase 9 [Gene - OMIM - HGNC]
  • MIR1289-1:microRNA 1289-1 [Gene - HGNC]
  • MIR3616:microRNA 3616 [Gene - HGNC]
  • MIR3617:microRNA 3617 [Gene - HGNC]
  • MIR3646:microRNA 3646 [Gene - HGNC]
  • MIR548O2:microRNA 548o-2 [Gene - HGNC]
  • MIR6812:microRNA 6812 [Gene - HGNC]
  • MIR6871:microRNA 6871 [Gene - HGNC]
  • MTCL2:microtubule crosslinking factor 2 [Gene - OMIM - HGNC]
  • MYL9:myosin light chain 9 [Gene - OMIM - HGNC]
  • NEURL2:neuralized E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • NNAT:neuronatin [Gene - OMIM - HGNC]
  • NORAD:non-coding RNA activated by DNA damage [Gene - OMIM - HGNC]
  • NCOA3:nuclear receptor coactivator 3 [Gene - OMIM - HGNC]
  • NCOA5:nuclear receptor coactivator 5 [Gene - OMIM - HGNC]
  • LOC107080552:origin of replication in promoter of TOP1 [Gene]
  • OCSTAMP:osteoclast stimulatory transmembrane protein [Gene - OMIM - HGNC]
  • OSER1:oxidative stress responsive serine rich 1 [Gene - HGNC]
  • PI3:peptidase inhibitor 3 [Gene - OMIM - HGNC]
  • PIGT:phosphatidylinositol glycan anchor biosynthesis class T [Gene - OMIM - HGNC]
  • PLCG1:phospholipase C gamma 1 [Gene - OMIM - HGNC]
  • PLTP:phospholipid transfer protein [Gene - OMIM - HGNC]
  • PCIF1:phosphorylated CTD interacting factor 1 [Gene - OMIM - HGNC]
  • PABPC1L:poly(A) binding protein cytoplasmic 1 like [Gene - HGNC]
  • KCNK15:potassium two pore domain channel subfamily K member 15 [Gene - OMIM - HGNC]
  • KCNS1:potassium voltage-gated channel modifier subfamily S member 1 [Gene - OMIM - HGNC]
  • LOC107985388:pre-mRNA-splicing factor cwc22-like [Gene]
  • PPP1R16B:protein phosphatase 1 regulatory subunit 16B [Gene - OMIM - HGNC]
  • PTPRT:protein tyrosine phosphatase receptor type T [Gene - OMIM - HGNC]
  • LOC108167311:proximal ADA Alu-mediated recombination region [Gene]
  • ROMO1:reactive oxygen species modulator 1 [Gene - OMIM - HGNC]
  • RBPJL:recombination signal binding protein for immunoglobulin kappa J region like [Gene - OMIM - HGNC]
  • RIMS4:regulating synaptic membrane exocytosis 4 [Gene - OMIM - HGNC]
  • RPRD1B:regulation of nuclear pre-mRNA domain containing 1B [Gene - OMIM - HGNC]
  • RPN2:ribophorin II [Gene - OMIM - HGNC]
  • SLPI:secretory leukocyte peptidase inhibitor [Gene - OMIM - HGNC]
  • SEMG1:semenogelin 1 [Gene - OMIM - HGNC]
  • SEMG2:semenogelin 2 [Gene - OMIM - HGNC]
  • SRSF6:serine and arginine rich splicing factor 6 [Gene - OMIM - HGNC]
  • SERINC3:serine incorporator 3 [Gene - OMIM - HGNC]
  • SPINT3:serine peptidase inhibitor, Kunitz type 3 [Gene - OMIM - HGNC]
  • SPINT4:serine peptidase inhibitor, Kunitz type 4 [Gene - OMIM - HGNC]
  • STK4:serine/threonine kinase 4 [Gene - OMIM - HGNC]
  • SGK2:serum/glucocorticoid regulated kinase 2 [Gene - OMIM - HGNC]
  • SNHG11:small nucleolar RNA host gene 11 [Gene - OMIM - HGNC]
  • SNHG17:small nucleolar RNA host gene 17 [Gene - OMIM - HGNC]
  • SNORD154:small nucleolar RNA, C/D box 154 [Gene - HGNC]
  • SNORA60:small nucleolar RNA, H/ACA box 60 [Gene - HGNC]
  • SNORA71A:small nucleolar RNA, H/ACA box 71A [Gene - HGNC]
  • SNORA71B:small nucleolar RNA, H/ACA box 71B [Gene - HGNC]
  • SNORA71C:small nucleolar RNA, H/ACA box 71C [Gene - HGNC]
  • SNORA71D:small nucleolar RNA, H/ACA box 71D [Gene - HGNC]
  • SNORA71E:small nucleolar RNA, H/ACA box 71E [Gene - HGNC]
  • SLC12A5:solute carrier family 12 member 5 [Gene - OMIM - HGNC]
  • SLC13A3:solute carrier family 13 member 3 [Gene - OMIM - HGNC]
  • SLC2A10:solute carrier family 2 member 10 [Gene - OMIM - HGNC]
  • SLC32A1:solute carrier family 32 member 1 [Gene - OMIM - HGNC]
  • SLC35C2:solute carrier family 35 member C2 [Gene - OMIM - HGNC]
  • SNX21:sorting nexin family member 21 [Gene - OMIM - HGNC]
  • SPAG4:sperm associated antigen 4 [Gene - OMIM - HGNC]
  • SPATA25:spermatogenesis associated 25 [Gene - OMIM - HGNC]
  • SDC4:syndecan 4 [Gene - OMIM - HGNC]
  • LOC106992256:t(11;20)(p15;q11) topoisomerase (DNA) I recombination region [Gene]
  • TGM2:transglutaminase 2 [Gene - OMIM - HGNC]
  • TOMM34:translocase of outer mitochondrial membrane 34 [Gene - OMIM - HGNC]
  • TNNC2:troponin C2, fast skeletal type [Gene - OMIM - HGNC]
  • YWHAB:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta [Gene - OMIM - HGNC]
  • UQCC1:ubiquinol-cytochrome c reductase complex assembly factor 1 [Gene - OMIM - HGNC]
  • UBE2C:ubiquitin conjugating enzyme E2 C [Gene - OMIM - HGNC]
  • LOC100128988:uncharacterized LOC100128988 [Gene]
  • LOC100131496:uncharacterized LOC100131496 [Gene]
  • LOC100287792:uncharacterized LOC100287792 [Gene]
  • LOC101927098:uncharacterized LOC101927098 [Gene]
  • LOC101927159:uncharacterized LOC101927159 [Gene]
  • LOC101927377:uncharacterized LOC101927377 [Gene]
  • LOC105372631:uncharacterized LOC105372631 [Gene]
  • LOC105372633:uncharacterized LOC105372633 [Gene]
  • LOC149684:uncharacterized LOC149684 [Gene]
  • ZMYND8:zinc finger MYND-type containing 8 [Gene - OMIM - HGNC]
  • ZSWIM1:zinc finger SWIM-type containing 1 [Gene - HGNC]
  • ZSWIM3:zinc finger SWIM-type containing 3 [Gene - OMIM - HGNC]
  • ZNF334:zinc finger protein 334 [Gene - HGNC]
  • ZNF335:zinc finger protein 335 [Gene - OMIM - HGNC]
  • ZNF840P:zinc finger protein 840, pseudogene [Gene - HGNC]
  • ZHX3:zinc fingers and homeoboxes 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
20q11.22-13.12
Genomic location:
Preferred name:
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1
HGVS:
  • NC_000020.11:g.(?_35237946)_(47631818_?)del
  • NC_000020.10:g.(?_33825749)_(46260562_?)del
  • NC_000020.9:g.(?_33289165)_(45693969_?)del
Links:
dbVar: nssv1610315; dbVar: nsv932124
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
SCV000181609ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 17, 2012) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000181609.4

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

Last Updated: May 7, 2024