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GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 19, 2011
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:
RCV000137524.8

Allele description [Variation Report for GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3]

GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3

Genes:
  • LOC129997720:ATAC-STARR-seq lymphoblastoid active region 25469 [Gene]
  • LOC129997721:ATAC-STARR-seq lymphoblastoid active region 25470 [Gene]
  • LOC129997727:ATAC-STARR-seq lymphoblastoid active region 25471 [Gene]
  • LOC129997728:ATAC-STARR-seq lymphoblastoid active region 25473 [Gene]
  • LOC129997736:ATAC-STARR-seq lymphoblastoid active region 25474 [Gene]
  • LOC129997737:ATAC-STARR-seq lymphoblastoid active region 25475 [Gene]
  • LOC129997741:ATAC-STARR-seq lymphoblastoid active region 25476 [Gene]
  • LOC129997743:ATAC-STARR-seq lymphoblastoid active region 25477 [Gene]
  • LOC129997745:ATAC-STARR-seq lymphoblastoid active region 25478 [Gene]
  • LOC129997746:ATAC-STARR-seq lymphoblastoid active region 25479 [Gene]
  • LOC129997747:ATAC-STARR-seq lymphoblastoid active region 25480 [Gene]
  • LOC129997749:ATAC-STARR-seq lymphoblastoid active region 25481 [Gene]
  • LOC129997754:ATAC-STARR-seq lymphoblastoid active region 25482 [Gene]
  • LOC129997757:ATAC-STARR-seq lymphoblastoid active region 25484 [Gene]
  • LOC129997762:ATAC-STARR-seq lymphoblastoid active region 25486 [Gene]
  • LOC129997763:ATAC-STARR-seq lymphoblastoid active region 25487 [Gene]
  • LOC129997766:ATAC-STARR-seq lymphoblastoid active region 25488 [Gene]
  • LOC129997776:ATAC-STARR-seq lymphoblastoid active region 25491 [Gene]
  • LOC129997777:ATAC-STARR-seq lymphoblastoid active region 25492 [Gene]
  • LOC129997780:ATAC-STARR-seq lymphoblastoid active region 25495 [Gene]
  • LOC129997782:ATAC-STARR-seq lymphoblastoid active region 25496 [Gene]
  • LOC129997783:ATAC-STARR-seq lymphoblastoid active region 25497 [Gene]
  • LOC129997784:ATAC-STARR-seq lymphoblastoid active region 25498 [Gene]
  • LOC129997785:ATAC-STARR-seq lymphoblastoid active region 25499 [Gene]
  • LOC129997786:ATAC-STARR-seq lymphoblastoid active region 25500 [Gene]
  • LOC129997787:ATAC-STARR-seq lymphoblastoid active region 25502 [Gene]
  • LOC129997788:ATAC-STARR-seq lymphoblastoid active region 25503 [Gene]
  • LOC129997790:ATAC-STARR-seq lymphoblastoid active region 25504 [Gene]
  • LOC129997791:ATAC-STARR-seq lymphoblastoid active region 25505 [Gene]
  • LOC129997792:ATAC-STARR-seq lymphoblastoid active region 25506 [Gene]
  • LOC129997793:ATAC-STARR-seq lymphoblastoid active region 25508 [Gene]
  • LOC129997794:ATAC-STARR-seq lymphoblastoid active region 25510 [Gene]
  • LOC129997797:ATAC-STARR-seq lymphoblastoid active region 25513 [Gene]
  • LOC129997798:ATAC-STARR-seq lymphoblastoid active region 25514 [Gene]
  • LOC129997799:ATAC-STARR-seq lymphoblastoid active region 25515 [Gene]
  • LOC129997800:ATAC-STARR-seq lymphoblastoid active region 25518 [Gene]
  • LOC129997801:ATAC-STARR-seq lymphoblastoid active region 25519 [Gene]
  • LOC129997802:ATAC-STARR-seq lymphoblastoid active region 25520 [Gene]
  • LOC129997803:ATAC-STARR-seq lymphoblastoid active region 25521 [Gene]
  • LOC129997804:ATAC-STARR-seq lymphoblastoid active region 25522 [Gene]
  • LOC129997805:ATAC-STARR-seq lymphoblastoid active region 25523 [Gene]
  • LOC129997806:ATAC-STARR-seq lymphoblastoid active region 25524 [Gene]
  • LOC129997807:ATAC-STARR-seq lymphoblastoid active region 25525 [Gene]
  • LOC129997808:ATAC-STARR-seq lymphoblastoid active region 25526 [Gene]
  • LOC129997813:ATAC-STARR-seq lymphoblastoid active region 25528 [Gene]
  • LOC129997816:ATAC-STARR-seq lymphoblastoid active region 25529 [Gene]
  • LOC129997817:ATAC-STARR-seq lymphoblastoid active region 25530 [Gene]
  • LOC129997818:ATAC-STARR-seq lymphoblastoid active region 25531 [Gene]
  • LOC129997819:ATAC-STARR-seq lymphoblastoid active region 25532 [Gene]
  • LOC129997824:ATAC-STARR-seq lymphoblastoid active region 25533 [Gene]
  • LOC129997825:ATAC-STARR-seq lymphoblastoid active region 25534 [Gene]
  • LOC129997826:ATAC-STARR-seq lymphoblastoid active region 25535 [Gene]
  • LOC129997829:ATAC-STARR-seq lymphoblastoid active region 25536 [Gene]
  • LOC129997830:ATAC-STARR-seq lymphoblastoid active region 25541 [Gene]
  • LOC129997831:ATAC-STARR-seq lymphoblastoid active region 25542 [Gene]
  • LOC129997832:ATAC-STARR-seq lymphoblastoid active region 25543 [Gene]
  • LOC129997833:ATAC-STARR-seq lymphoblastoid active region 25544 [Gene]
  • LOC129997834:ATAC-STARR-seq lymphoblastoid active region 25545 [Gene]
  • LOC129997835:ATAC-STARR-seq lymphoblastoid active region 25547 [Gene]
  • LOC129997836:ATAC-STARR-seq lymphoblastoid active region 25548 [Gene]
  • LOC129997837:ATAC-STARR-seq lymphoblastoid active region 25549 [Gene]
  • LOC129997838:ATAC-STARR-seq lymphoblastoid active region 25550 [Gene]
  • LOC129997839:ATAC-STARR-seq lymphoblastoid active region 25551 [Gene]
  • LOC129997840:ATAC-STARR-seq lymphoblastoid active region 25552 [Gene]
  • LOC129997841:ATAC-STARR-seq lymphoblastoid active region 25553 [Gene]
  • LOC129997842:ATAC-STARR-seq lymphoblastoid active region 25554 [Gene]
  • LOC129997844:ATAC-STARR-seq lymphoblastoid active region 25555 [Gene]
  • LOC129997849:ATAC-STARR-seq lymphoblastoid active region 25557 [Gene]
  • LOC129997850:ATAC-STARR-seq lymphoblastoid active region 25558 [Gene]
  • LOC129997851:ATAC-STARR-seq lymphoblastoid active region 25559 [Gene]
  • LOC129997857:ATAC-STARR-seq lymphoblastoid active region 25560 [Gene]
  • LOC129997858:ATAC-STARR-seq lymphoblastoid active region 25561 [Gene]
  • LOC129997861:ATAC-STARR-seq lymphoblastoid active region 25565 [Gene]
  • LOC129997862:ATAC-STARR-seq lymphoblastoid active region 25566 [Gene]
  • LOC129997863:ATAC-STARR-seq lymphoblastoid active region 25567 [Gene]
  • LOC129997865:ATAC-STARR-seq lymphoblastoid active region 25568 [Gene]
  • LOC129997868:ATAC-STARR-seq lymphoblastoid active region 25569 [Gene]
  • LOC129997869:ATAC-STARR-seq lymphoblastoid active region 25570 [Gene]
  • LOC129997870:ATAC-STARR-seq lymphoblastoid active region 25571 [Gene]
  • LOC129997874:ATAC-STARR-seq lymphoblastoid active region 25574 [Gene]
  • LOC129997876:ATAC-STARR-seq lymphoblastoid active region 25575 [Gene]
  • LOC129997879:ATAC-STARR-seq lymphoblastoid active region 25576 [Gene]
  • LOC129997881:ATAC-STARR-seq lymphoblastoid active region 25580 [Gene]
  • LOC129997882:ATAC-STARR-seq lymphoblastoid active region 25581 [Gene]
  • LOC129997884:ATAC-STARR-seq lymphoblastoid active region 25584 [Gene]
  • LOC129997885:ATAC-STARR-seq lymphoblastoid active region 25585 [Gene]
  • LOC129997886:ATAC-STARR-seq lymphoblastoid active region 25586 [Gene]
  • LOC129997887:ATAC-STARR-seq lymphoblastoid active region 25587 [Gene]
  • LOC129997888:ATAC-STARR-seq lymphoblastoid active region 25588 [Gene]
  • LOC129997889:ATAC-STARR-seq lymphoblastoid active region 25589 [Gene]
  • LOC129997890:ATAC-STARR-seq lymphoblastoid active region 25590 [Gene]
  • LOC129997892:ATAC-STARR-seq lymphoblastoid active region 25594 [Gene]
  • LOC129997893:ATAC-STARR-seq lymphoblastoid active region 25595 [Gene]
  • LOC129997894:ATAC-STARR-seq lymphoblastoid active region 25596 [Gene]
  • LOC129997895:ATAC-STARR-seq lymphoblastoid active region 25597 [Gene]
  • LOC129997896:ATAC-STARR-seq lymphoblastoid active region 25598 [Gene]
  • LOC129997897:ATAC-STARR-seq lymphoblastoid active region 25599 [Gene]
  • LOC129997898:ATAC-STARR-seq lymphoblastoid active region 25602 [Gene]
  • LOC129997900:ATAC-STARR-seq lymphoblastoid active region 25603 [Gene]
  • LOC129997901:ATAC-STARR-seq lymphoblastoid active region 25604 [Gene]
  • LOC129997905:ATAC-STARR-seq lymphoblastoid active region 25605 [Gene]
  • LOC129997906:ATAC-STARR-seq lymphoblastoid active region 25606 [Gene]
  • LOC129997907:ATAC-STARR-seq lymphoblastoid active region 25607 [Gene]
  • LOC129997908:ATAC-STARR-seq lymphoblastoid active region 25608 [Gene]
  • LOC129997910:ATAC-STARR-seq lymphoblastoid active region 25609 [Gene]
  • LOC129997911:ATAC-STARR-seq lymphoblastoid active region 25610 [Gene]
  • LOC129997912:ATAC-STARR-seq lymphoblastoid active region 25611 [Gene]
  • LOC129997914:ATAC-STARR-seq lymphoblastoid active region 25612 [Gene]
  • LOC129997915:ATAC-STARR-seq lymphoblastoid active region 25613 [Gene]
  • LOC129997916:ATAC-STARR-seq lymphoblastoid active region 25614 [Gene]
  • LOC129997918:ATAC-STARR-seq lymphoblastoid active region 25615 [Gene]
  • LOC129997925:ATAC-STARR-seq lymphoblastoid active region 25619 [Gene]
  • LOC129997926:ATAC-STARR-seq lymphoblastoid active region 25620 [Gene]
  • LOC129997929:ATAC-STARR-seq lymphoblastoid active region 25621 [Gene]
  • LOC129997930:ATAC-STARR-seq lymphoblastoid active region 25622 [Gene]
  • LOC129997931:ATAC-STARR-seq lymphoblastoid active region 25623 [Gene]
  • LOC129997932:ATAC-STARR-seq lymphoblastoid active region 25624 [Gene]
  • LOC129997933:ATAC-STARR-seq lymphoblastoid active region 25625 [Gene]
  • LOC129997934:ATAC-STARR-seq lymphoblastoid active region 25626 [Gene]
  • LOC129997943:ATAC-STARR-seq lymphoblastoid active region 25627 [Gene]
  • LOC129997944:ATAC-STARR-seq lymphoblastoid active region 25628 [Gene]
  • LOC129997945:ATAC-STARR-seq lymphoblastoid active region 25629 [Gene]
  • LOC129997947:ATAC-STARR-seq lymphoblastoid active region 25630 [Gene]
  • LOC129997952:ATAC-STARR-seq lymphoblastoid active region 25632 [Gene]
  • LOC129997953:ATAC-STARR-seq lymphoblastoid active region 25633 [Gene]
  • LOC129997954:ATAC-STARR-seq lymphoblastoid active region 25634 [Gene]
  • LOC129997957:ATAC-STARR-seq lymphoblastoid active region 25635 [Gene]
  • LOC129997958:ATAC-STARR-seq lymphoblastoid active region 25636 [Gene]
  • LOC129997962:ATAC-STARR-seq lymphoblastoid active region 25638 [Gene]
  • LOC129997718:ATAC-STARR-seq lymphoblastoid silent region 17803 [Gene]
  • LOC129997719:ATAC-STARR-seq lymphoblastoid silent region 17804 [Gene]
  • LOC129997722:ATAC-STARR-seq lymphoblastoid silent region 17808 [Gene]
  • LOC129997723:ATAC-STARR-seq lymphoblastoid silent region 17809 [Gene]
  • LOC129997724:ATAC-STARR-seq lymphoblastoid silent region 17812 [Gene]
  • LOC129997725:ATAC-STARR-seq lymphoblastoid silent region 17813 [Gene]
  • LOC129997726:ATAC-STARR-seq lymphoblastoid silent region 17814 [Gene]
  • LOC129997729:ATAC-STARR-seq lymphoblastoid silent region 17815 [Gene]
  • LOC129997730:ATAC-STARR-seq lymphoblastoid silent region 17816 [Gene]
  • LOC129997731:ATAC-STARR-seq lymphoblastoid silent region 17817 [Gene]
  • LOC129997732:ATAC-STARR-seq lymphoblastoid silent region 17818 [Gene]
  • LOC129997733:ATAC-STARR-seq lymphoblastoid silent region 17819 [Gene]
  • LOC129997734:ATAC-STARR-seq lymphoblastoid silent region 17820 [Gene]
  • LOC129997735:ATAC-STARR-seq lymphoblastoid silent region 17821 [Gene]
  • LOC129997738:ATAC-STARR-seq lymphoblastoid silent region 17822 [Gene]
  • LOC129997739:ATAC-STARR-seq lymphoblastoid silent region 17823 [Gene]
  • LOC129997740:ATAC-STARR-seq lymphoblastoid silent region 17824 [Gene]
  • LOC129997742:ATAC-STARR-seq lymphoblastoid silent region 17825 [Gene]
  • LOC129997744:ATAC-STARR-seq lymphoblastoid silent region 17826 [Gene]
  • LOC129997748:ATAC-STARR-seq lymphoblastoid silent region 17827 [Gene]
  • LOC129997750:ATAC-STARR-seq lymphoblastoid silent region 17828 [Gene]
  • LOC129997751:ATAC-STARR-seq lymphoblastoid silent region 17829 [Gene]
  • LOC129997752:ATAC-STARR-seq lymphoblastoid silent region 17830 [Gene]
  • LOC129997753:ATAC-STARR-seq lymphoblastoid silent region 17832 [Gene]
  • LOC129997755:ATAC-STARR-seq lymphoblastoid silent region 17835 [Gene]
  • LOC129997756:ATAC-STARR-seq lymphoblastoid silent region 17836 [Gene]
  • LOC129997758:ATAC-STARR-seq lymphoblastoid silent region 17839 [Gene]
  • LOC129997759:ATAC-STARR-seq lymphoblastoid silent region 17840 [Gene]
  • LOC129997760:ATAC-STARR-seq lymphoblastoid silent region 17841 [Gene]
  • LOC129997761:ATAC-STARR-seq lymphoblastoid silent region 17842 [Gene]
  • LOC129997764:ATAC-STARR-seq lymphoblastoid silent region 17843 [Gene]
  • LOC129997765:ATAC-STARR-seq lymphoblastoid silent region 17844 [Gene]
  • LOC129997767:ATAC-STARR-seq lymphoblastoid silent region 17845 [Gene]
  • LOC129997768:ATAC-STARR-seq lymphoblastoid silent region 17848 [Gene]
  • LOC129997769:ATAC-STARR-seq lymphoblastoid silent region 17849 [Gene]
  • LOC129997770:ATAC-STARR-seq lymphoblastoid silent region 17850 [Gene]
  • LOC129997771:ATAC-STARR-seq lymphoblastoid silent region 17851 [Gene]
  • LOC129997772:ATAC-STARR-seq lymphoblastoid silent region 17852 [Gene]
  • LOC129997773:ATAC-STARR-seq lymphoblastoid silent region 17853 [Gene]
  • LOC129997774:ATAC-STARR-seq lymphoblastoid silent region 17854 [Gene]
  • LOC129997775:ATAC-STARR-seq lymphoblastoid silent region 17855 [Gene]
  • LOC129997778:ATAC-STARR-seq lymphoblastoid silent region 17856 [Gene]
  • LOC129997779:ATAC-STARR-seq lymphoblastoid silent region 17857 [Gene]
  • LOC129997781:ATAC-STARR-seq lymphoblastoid silent region 17861 [Gene]
  • LOC129997789:ATAC-STARR-seq lymphoblastoid silent region 17862 [Gene]
  • LOC129997795:ATAC-STARR-seq lymphoblastoid silent region 17863 [Gene]
  • LOC129997796:ATAC-STARR-seq lymphoblastoid silent region 17864 [Gene]
  • LOC129997809:ATAC-STARR-seq lymphoblastoid silent region 17865 [Gene]
  • LOC129997810:ATAC-STARR-seq lymphoblastoid silent region 17867 [Gene]
  • LOC129997811:ATAC-STARR-seq lymphoblastoid silent region 17868 [Gene]
  • LOC129997812:ATAC-STARR-seq lymphoblastoid silent region 17869 [Gene]
  • LOC129997814:ATAC-STARR-seq lymphoblastoid silent region 17870 [Gene]
  • LOC129997815:ATAC-STARR-seq lymphoblastoid silent region 17871 [Gene]
  • LOC129997820:ATAC-STARR-seq lymphoblastoid silent region 17873 [Gene]
  • LOC129997821:ATAC-STARR-seq lymphoblastoid silent region 17874 [Gene]
  • LOC129997822:ATAC-STARR-seq lymphoblastoid silent region 17875 [Gene]
  • LOC129997823:ATAC-STARR-seq lymphoblastoid silent region 17876 [Gene]
  • LOC129997827:ATAC-STARR-seq lymphoblastoid silent region 17880 [Gene]
  • LOC129997828:ATAC-STARR-seq lymphoblastoid silent region 17881 [Gene]
  • LOC129997843:ATAC-STARR-seq lymphoblastoid silent region 17887 [Gene]
  • LOC129997845:ATAC-STARR-seq lymphoblastoid silent region 17888 [Gene]
  • LOC129997846:ATAC-STARR-seq lymphoblastoid silent region 17889 [Gene]
  • LOC129997847:ATAC-STARR-seq lymphoblastoid silent region 17890 [Gene]
  • LOC129997848:ATAC-STARR-seq lymphoblastoid silent region 17891 [Gene]
  • LOC129997852:ATAC-STARR-seq lymphoblastoid silent region 17894 [Gene]
  • LOC129997853:ATAC-STARR-seq lymphoblastoid silent region 17895 [Gene]
  • LOC129997854:ATAC-STARR-seq lymphoblastoid silent region 17896 [Gene]
  • LOC129997855:ATAC-STARR-seq lymphoblastoid silent region 17897 [Gene]
  • LOC129997856:ATAC-STARR-seq lymphoblastoid silent region 17899 [Gene]
  • LOC129997859:ATAC-STARR-seq lymphoblastoid silent region 17900 [Gene]
  • LOC129997860:ATAC-STARR-seq lymphoblastoid silent region 17901 [Gene]
  • LOC129997864:ATAC-STARR-seq lymphoblastoid silent region 17903 [Gene]
  • LOC129997866:ATAC-STARR-seq lymphoblastoid silent region 17904 [Gene]
  • LOC129997867:ATAC-STARR-seq lymphoblastoid silent region 17907 [Gene]
  • LOC129997871:ATAC-STARR-seq lymphoblastoid silent region 17908 [Gene]
  • LOC129997872:ATAC-STARR-seq lymphoblastoid silent region 17909 [Gene]
  • LOC129997873:ATAC-STARR-seq lymphoblastoid silent region 17910 [Gene]
  • LOC129997875:ATAC-STARR-seq lymphoblastoid silent region 17911 [Gene]
  • LOC129997877:ATAC-STARR-seq lymphoblastoid silent region 17912 [Gene]
  • LOC129997878:ATAC-STARR-seq lymphoblastoid silent region 17913 [Gene]
  • LOC129997880:ATAC-STARR-seq lymphoblastoid silent region 17914 [Gene]
  • LOC129997883:ATAC-STARR-seq lymphoblastoid silent region 17916 [Gene]
  • LOC129997891:ATAC-STARR-seq lymphoblastoid silent region 17919 [Gene]
  • LOC129997899:ATAC-STARR-seq lymphoblastoid silent region 17924 [Gene]
  • LOC129997902:ATAC-STARR-seq lymphoblastoid silent region 17925 [Gene]
  • LOC129997903:ATAC-STARR-seq lymphoblastoid silent region 17926 [Gene]
  • LOC129997904:ATAC-STARR-seq lymphoblastoid silent region 17928 [Gene]
  • LOC129997909:ATAC-STARR-seq lymphoblastoid silent region 17929 [Gene]
  • LOC129997913:ATAC-STARR-seq lymphoblastoid silent region 17930 [Gene]
  • LOC129997917:ATAC-STARR-seq lymphoblastoid silent region 17931 [Gene]
  • LOC129997919:ATAC-STARR-seq lymphoblastoid silent region 17932 [Gene]
  • LOC129997920:ATAC-STARR-seq lymphoblastoid silent region 17933 [Gene]
  • LOC129997921:ATAC-STARR-seq lymphoblastoid silent region 17934 [Gene]
  • LOC129997922:ATAC-STARR-seq lymphoblastoid silent region 17935 [Gene]
  • LOC129997923:ATAC-STARR-seq lymphoblastoid silent region 17936 [Gene]
  • LOC129997924:ATAC-STARR-seq lymphoblastoid silent region 17937 [Gene]
  • LOC129997927:ATAC-STARR-seq lymphoblastoid silent region 17941 [Gene]
  • LOC129997928:ATAC-STARR-seq lymphoblastoid silent region 17942 [Gene]
  • LOC129997935:ATAC-STARR-seq lymphoblastoid silent region 17943 [Gene]
  • LOC129997936:ATAC-STARR-seq lymphoblastoid silent region 17944 [Gene]
  • LOC129997937:ATAC-STARR-seq lymphoblastoid silent region 17945 [Gene]
  • LOC129997938:ATAC-STARR-seq lymphoblastoid silent region 17946 [Gene]
  • LOC129997939:ATAC-STARR-seq lymphoblastoid silent region 17947 [Gene]
  • LOC129997940:ATAC-STARR-seq lymphoblastoid silent region 17948 [Gene]
  • LOC129997941:ATAC-STARR-seq lymphoblastoid silent region 17949 [Gene]
  • LOC129997942:ATAC-STARR-seq lymphoblastoid silent region 17950 [Gene]
  • LOC129997946:ATAC-STARR-seq lymphoblastoid silent region 17951 [Gene]
  • LOC129997948:ATAC-STARR-seq lymphoblastoid silent region 17952 [Gene]
  • LOC129997949:ATAC-STARR-seq lymphoblastoid silent region 17953 [Gene]
  • LOC129997950:ATAC-STARR-seq lymphoblastoid silent region 17955 [Gene]
  • LOC129997951:ATAC-STARR-seq lymphoblastoid silent region 17956 [Gene]
  • LOC129997955:ATAC-STARR-seq lymphoblastoid silent region 17958 [Gene]
  • LOC129997956:ATAC-STARR-seq lymphoblastoid silent region 17959 [Gene]
  • LOC129997959:ATAC-STARR-seq lymphoblastoid silent region 17960 [Gene]
  • LOC129997960:ATAC-STARR-seq lymphoblastoid silent region 17961 [Gene]
  • LOC129997961:ATAC-STARR-seq lymphoblastoid silent region 17962 [Gene]
  • ADAP1:ArfGAP with dual PH domains 1 [Gene - OMIM - HGNC]
  • BRAT1:BRCA1 associated ATM activator 1 [Gene - OMIM - HGNC]
  • LOC126859922:BRD4-independent group 4 enhancer GRCh37_chr7:1156037-1157236 [Gene]
  • LOC126859929:BRD4-independent group 4 enhancer GRCh37_chr7:3283525-3284724 [Gene]
  • LOC126859931:BRD4-independent group 4 enhancer GRCh37_chr7:4007911-4009110 [Gene]
  • LOC126859932:BRD4-independent group 4 enhancer GRCh37_chr7:4299431-4300630 [Gene]
  • LOC126859935:BRD4-independent group 4 enhancer GRCh37_chr7:4800052-4801251 [Gene]
  • LOC126859937:BRD4-independent group 4 enhancer GRCh37_chr7:5741581-5742780 [Gene]
  • LOC126859917:BRD4-independent group 4 enhancer GRCh37_chr7:690976-692175 [Gene]
  • LOC126859918:BRD4-independent group 4 enhancer GRCh37_chr7:791462-792661 [Gene]
  • CARD11-AS1:CARD11 antisense RNA 1 [Gene - HGNC]
  • CCZ1B:CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated [Gene - HGNC]
  • CCZ1:CCZ1 homolog, vacuolar protein trafficking and biogenesis associated [Gene - OMIM - HGNC]
  • LOC126859923:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:1220431-1221630 [Gene]
  • LOC126859926:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:2149574-2150773 [Gene]
  • LOC126859928:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:2611286-2612485 [Gene]
  • LOC126859933:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:4303312-4304511 [Gene]
  • LOC126859936:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:5257932-5259131 [Gene]
  • LOC126859938:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:6189130-6190329 [Gene]
  • LOC126859920:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:821444-822643 [Gene]
  • LOC116183079:CRISPRi-validated cis-regulatory element chr7.493 [Gene]
  • LOC116183082:CRISPRi-validated cis-regulatory element chr7.769 [Gene]
  • LOC116183083:CRISPRi-validated cis-regulatory element chr7.922 [Gene]
  • LOC116183084:CRISPRi-validated cis-regulatory element chr7.924 [Gene]
  • ELFN1-AS1:ELFN1 antisense RNA 1 [Gene - HGNC]
  • FBXL18:F-box and leucine rich repeat protein 18 [Gene - OMIM - HGNC]
  • FAM20C:FAM20C golgi associated secretory pathway kinase [Gene - OMIM - HGNC]
  • FOXL3-OT1:FOXL3 overlapping transcript 1 [Gene - HGNC]
  • GNA12:G protein subunit alpha 12 [Gene - OMIM - HGNC]
  • GPER1:G protein-coupled estrogen receptor 1 [Gene - OMIM - HGNC]
  • GPR146:G protein-coupled receptor 146 [Gene - HGNC]
  • GRID2IP:Grid2 interacting protein [Gene - OMIM - HGNC]
  • LOC108281146:INTS1-MAFK intergenic CAGE-defined mid-level expression enhancer [Gene]
  • IQCE:IQ motif containing E [Gene - OMIM - HGNC]
  • KDELR2:KDEL endoplasmic reticulum protein retention receptor 2 [Gene - OMIM - HGNC]
  • LFNG:LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • MAFK:MAF bZIP transcription factor K [Gene - OMIM - HGNC]
  • LOC126859925:MED14-independent group 3 enhancer GRCh37_chr7:2019399-2020598 [Gene]
  • LOC126859927:MED14-independent group 3 enhancer GRCh37_chr7:2276450-2277649 [Gene]
  • LOC126859930:MED14-independent group 3 enhancer GRCh37_chr7:3950537-3951736 [Gene]
  • LOC126859916:MED14-independent group 3 enhancer GRCh37_chr7:475441-476640 [Gene]
  • LOC126859934:MED14-independent group 3 enhancer GRCh37_chr7:4777977-4779176 [Gene]
  • MICALL2:MICAL like 2 [Gene - HGNC]
  • LOC129389726:MPRA-validated peak6332 silencer [Gene]
  • LOC129389727:MPRA-validated peak6334 silencer [Gene]
  • LOC129389728:MPRA-validated peak6338 silencer [Gene]
  • LOC129389729:MPRA-validated peak6340 silencer [Gene]
  • LOC129389730:MPRA-validated peak6348 silencer [Gene]
  • LOC129389731:MPRA-validated peak6353 silencer [Gene]
  • LOC129389732:MPRA-validated peak6354 silencer [Gene]
  • LOC129389733:MPRA-validated peak6358 silencer [Gene]
  • LOC109623491:MS31A repeat instability region [Gene]
  • LOC132090775:Neanderthal introgressed variant-containing enhancer experimental_100798 [Gene]
  • LOC132089513:Neanderthal introgressed variant-containing enhancer experimental_97501 [Gene]
  • LOC132090776:Neanderthal introgressed variant-containing enhancer experimental_98143 [Gene]
  • LOC132089522:Neanderthal introgressed variant-containing enhancer experimental_98173 [Gene]
  • LOC126859924:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:2000936-2002135 [Gene]
  • LOC126859919:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:807142-808341 [Gene]
  • LOC126859921:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:871666-872865 [Gene]
  • LOC121740675:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:984861-986060 [Gene]
  • PDGFA-DT:PDGFA divergent transcript [Gene - HGNC]
  • PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]
  • PRKAR1B-AS1:PRKAR1B antisense RNA 1 [Gene - HGNC]
  • PRKAR1B-AS2:PRKAR1B antisense RNA 2 [Gene - HGNC]
  • PSMG3-AS1:PSMG3 antisense RNA 1 (head to head) [Gene - HGNC]
  • RBAK:RB associated KRAB zinc finger [Gene - OMIM - HGNC]
  • RBAKDN:RBAK downstream neighbor [Gene - HGNC]
  • RBAK-RBAKDN:RBAK-RBAKDN readthrough [Gene - HGNC]
  • RNF216-IT1:RNF216 intronic transcript 1 [Gene - HGNC]
  • RAC1:Rac family small GTPase 1 [Gene - OMIM - HGNC]
  • RADIL:Rap associating with DIL domain [Gene - OMIM - HGNC]
  • SDK1-AS1:SDK1 antisense RNA 1 [Gene - HGNC]
  • SUN1:Sad1 and UNC84 domain containing 1 [Gene - OMIM - HGNC]
  • LOC121144498:Sharpr-MPRA regulatory region 1064 [Gene]
  • LOC113748396:Sharpr-MPRA regulatory region 1133 [Gene]
  • LOC114004405:Sharpr-MPRA regulatory region 11358 [Gene]
  • LOC123924894:Sharpr-MPRA regulatory region 11447 [Gene]
  • LOC113748391:Sharpr-MPRA regulatory region 11841 [Gene]
  • LOC123924887:Sharpr-MPRA regulatory region 11952 [Gene]
  • LOC121144499:Sharpr-MPRA regulatory region 12096 [Gene]
  • LOC121144500:Sharpr-MPRA regulatory region 12216 [Gene]
  • LOC113743972:Sharpr-MPRA regulatory region 12408 [Gene]
  • LOC121144504:Sharpr-MPRA regulatory region 12753 [Gene]
  • LOC123924889:Sharpr-MPRA regulatory region 13438 [Gene]
  • LOC113687202:Sharpr-MPRA regulatory region 13780 [Gene]
  • LOC113687173:Sharpr-MPRA regulatory region 13805 [Gene]
  • LOC121144502:Sharpr-MPRA regulatory region 13937 [Gene]
  • LOC113748402:Sharpr-MPRA regulatory region 15225 [Gene]
  • LOC123924890:Sharpr-MPRA regulatory region 15277 [Gene]
  • LOC123924898:Sharpr-MPRA regulatory region 15593 [Gene]
  • LOC123924897:Sharpr-MPRA regulatory region 1711 [Gene]
  • LOC121144497:Sharpr-MPRA regulatory region 1985 [Gene]
  • LOC113748400:Sharpr-MPRA regulatory region 3057 [Gene]
  • LOC123924888:Sharpr-MPRA regulatory region 3173 [Gene]
  • LOC123924896:Sharpr-MPRA regulatory region 3727 [Gene]
  • LOC121144501:Sharpr-MPRA regulatory region 3776 [Gene]
  • LOC113748395:Sharpr-MPRA regulatory region 4030 [Gene]
  • LOC113748387:Sharpr-MPRA regulatory region 4127 [Gene]
  • LOC113748392:Sharpr-MPRA regulatory region 4159 [Gene]
  • LOC123924886:Sharpr-MPRA regulatory region 5475 [Gene]
  • LOC113743974:Sharpr-MPRA regulatory region 5898 [Gene]
  • LOC123924885:Sharpr-MPRA regulatory region 7003 [Gene]
  • LOC113743973:Sharpr-MPRA regulatory region 7916 [Gene]
  • LOC123924891:Sharpr-MPRA regulatory region 835 [Gene]
  • LOC123924892:Sharpr-MPRA regulatory region 8408 [Gene]
  • LOC113748401:Sharpr-MPRA regulatory region 8552 [Gene]
  • LOC121144503:Sharpr-MPRA regulatory region 9278 [Gene]
  • LOC123924899:Sharpr-MPRA regulatory region 9377 [Gene]
  • LOC123924895:Sharpr-MPRA regulatory region 9837 [Gene]
  • LOC123924893:Sharpr-MPRA regulatory region 9979 [Gene]
  • UNCX:UNC homeobox [Gene - HGNC]
  • LOC110121162:VISTA enhancer hs1623 [Gene]
  • LOC110120649:VISTA enhancer hs293 [Gene]
  • WIPI2:WD repeat domain, phosphoinositide interacting 2 [Gene - OMIM - HGNC]
  • ZFAND2A-DT:ZFAND2A divergent transcript [Gene - HGNC]
  • ACTB:actin beta [Gene - OMIM - HGNC]
  • AP5Z1:adaptor related protein complex 5 subunit zeta 1 [Gene - OMIM - HGNC]
  • AIMP2:aminoacyl tRNA synthetase complex interacting multifunctional protein 2 [Gene - OMIM - HGNC]
  • ANKRD61:ankyrin repeat domain 61 [Gene - HGNC]
  • AMZ1:archaelysin family metallopeptidase 1 [Gene - OMIM - HGNC]
  • CHST12:carbohydrate sulfotransferase 12 [Gene - OMIM - HGNC]
  • CARD11:caspase recruitment domain family member 11 [Gene - OMIM - HGNC]
  • C7orf50:chromosome 7 open reading frame 50 [Gene - HGNC]
  • C1GALT1:core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 [Gene - OMIM - HGNC]
  • CYP2W1:cytochrome P450 family 2 subfamily W member 1 [Gene - OMIM - HGNC]
  • COX19:cytochrome c oxidase assembly factor COX19 [Gene - OMIM - HGNC]
  • CYTH3:cytohesin 3 [Gene - OMIM - HGNC]
  • DAGLB:diacylglycerol lipase beta [Gene - OMIM - HGNC]
  • DNAAF5:dynein axonemal assembly factor 5 [Gene - OMIM - HGNC]
  • EIF2AK1:eukaryotic translation initiation factor 2 alpha kinase 1 [Gene - OMIM - HGNC]
  • EIF3B:eukaryotic translation initiation factor 3 subunit B [Gene - OMIM - HGNC]
  • ELFN1:extracellular leucine rich repeat and fibronectin type III domain containing 1 [Gene - OMIM - HGNC]
  • FAM220A:family with sequence similarity 220 member A [Gene - OMIM - HGNC]
  • FSCN1:fascin actin-bundling protein 1 [Gene - OMIM - HGNC]
  • FOXK1:forkhead box K1 [Gene - OMIM - HGNC]
  • FOXL3:forkhead box L3 [Gene - HGNC]
  • GRIFIN:galectin-related inter-fiber protein [Gene - OMIM - HGNC]
  • GET4:guided entry of tail-anchored proteins factor 4 [Gene - OMIM - HGNC]
  • INTS15:integrator complex subunit 15 [Gene - HGNC]
  • INTS1:integrator complex subunit 1 [Gene - OMIM - HGNC]
  • LNCRI:lncRNA radiation induced regulator of PLK1 and RAD51 [Gene - HGNC]
  • LINC02983:long intergenic non-protein coding RNA 2983 [Gene - HGNC]
  • LINC03014:long intergenic non-protein coding RNA 3014 [Gene - HGNC]
  • LINC03015:long intergenic non-protein coding RNA 3015 [Gene - HGNC]
  • LINC03073:long intergenic non-protein coding RNA 3073 [Gene - HGNC]
  • MIR339:microRNA 339 [Gene - OMIM - HGNC]
  • MIR3683:microRNA 3683 [Gene - HGNC]
  • MIR4648:microRNA 4648 [Gene - HGNC]
  • MIR4655:microRNA 4655 [Gene - HGNC]
  • MIR4656:microRNA 4656 [Gene - HGNC]
  • MIR589:microRNA 589 [Gene - HGNC]
  • MIR6836:microRNA 6836 [Gene - HGNC]
  • MIR6874:microRNA 6874 [Gene - HGNC]
  • MRM2:mitochondrial rRNA methyltransferase 2 [Gene - OMIM - HGNC]
  • MAD1L1:mitotic arrest deficient 1 like 1 [Gene - OMIM - HGNC]
  • MMD2:monocyte to macrophage differentiation associated 2 [Gene - OMIM - HGNC]
  • LOC106799841:nonconserved acetylation island sequence 100 enhancer [Gene]
  • LOC106799845:nonconserved acetylation island sequence 106 enhancer [Gene]
  • LOC106783574:nonconserved acetylation island sequence 61 enhancer [Gene]
  • NUDT1:nudix hydrolase 1 [Gene - OMIM - HGNC]
  • OCM:oncomodulin [Gene - OMIM - HGNC]
  • PDGFA:platelet derived growth factor subunit A [Gene - OMIM - HGNC]
  • PAPOLB:poly(A) polymerase beta [Gene - OMIM - HGNC]
  • PSMG3:proteasome assembly chaperone 3 [Gene - OMIM - HGNC]
  • PRKAR1B:protein kinase cAMP-dependent type I regulatory subunit beta [Gene - OMIM - HGNC]
  • RSPH10B2:radial spoke head 10 homolog B2 [Gene - HGNC]
  • RSPH10B:radial spoke head 10 homolog B [Gene - HGNC]
  • RNF216:ring finger protein 216 [Gene - OMIM - HGNC]
  • SDK1:sidekick cell adhesion molecule 1 [Gene - OMIM - HGNC]
  • SMIM10L3:small integral membrane protein 10 like 3 [Gene - HGNC]
  • SNORD165:small nucleolar RNA, C/D box 165 [Gene - HGNC]
  • SNORA114:small nucleolar RNA, H/ACA box 114 [Gene - HGNC]
  • SNORA80D:small nucleolar RNA, H/ACA box 80D [Gene - HGNC]
  • SLC29A4:solute carrier family 29 member 4 [Gene - OMIM - HGNC]
  • SNX8:sorting nexin 8 [Gene - OMIM - HGNC]
  • TMEM184A:transmembrane protein 184A [Gene - HGNC]
  • TNRC18:trinucleotide repeat containing 18 [Gene - HGNC]
  • TTYH3:tweety family member 3 [Gene - OMIM - HGNC]
  • USP42:ubiquitin specific peptidase 42 [Gene - HGNC]
  • LOC100128653:uncharacterized LOC100128653 [Gene]
  • LOC100129603:uncharacterized LOC100129603 [Gene]
  • LOC101929756:uncharacterized LOC101929756 [Gene]
  • LOC105375113:uncharacterized LOC105375113 [Gene]
  • LOC105375115:uncharacterized LOC105375115 [Gene]
  • LOC105375120:uncharacterized LOC105375120 [Gene]
  • LOC105375131:uncharacterized LOC105375131 [Gene]
  • LOC105375303:uncharacterized LOC105375303 [Gene]
  • LOC112267991:uncharacterized LOC112267991 [Gene]
  • LOC116435278:uncharacterized LOC116435278 [Gene]
  • LOC221946:uncharacterized LOC221946 [Gene]
  • LOC442497:uncharacterized LOC442497 [Gene]
  • ZFAND2A:zinc finger AN1-type containing 2A [Gene - OMIM - HGNC]
  • ZDHHC4:zinc finger DHHC-type palmitoyltransferase 4 [Gene - HGNC]
  • ZNF12:zinc finger protein 12 [Gene - OMIM - HGNC]
  • ZNF316:zinc finger protein 316 [Gene - HGNC]
  • ZNF853:zinc finger protein 853 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7p22.3-21.3
Genomic location:
Preferred name:
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3
HGVS:
  • NC_000007.14:g.(?_45130)_(7252065_?)dup
  • NC_000007.12:g.(?_140213)_(7258221_?)dup
  • NC_000007.13:g.(?_45130)_(7291696_?)dup
Links:
dbVar: nssv1415398; dbVar: nsv817458
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
SCV000177749ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(May 19, 2011) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000177749.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024