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GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 30, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000136786.6

Allele description [Variation Report for GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1]

GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1

Genes:
  • ARFGAP3:ADP ribosylation factor GTPase activating protein 3 [Gene - OMIM - HGNC]
  • ALG12:ALG12 alpha-1,6-mannosyltransferase [Gene - OMIM - HGNC]
  • LOC130067602:ATAC-STARR-seq lymphoblastoid active region 19168 [Gene]
  • LOC130067603:ATAC-STARR-seq lymphoblastoid active region 19170 [Gene]
  • LOC130067606:ATAC-STARR-seq lymphoblastoid active region 19174 [Gene]
  • LOC130067607:ATAC-STARR-seq lymphoblastoid active region 19175 [Gene]
  • LOC130067613:ATAC-STARR-seq lymphoblastoid active region 19176 [Gene]
  • LOC130067618:ATAC-STARR-seq lymphoblastoid active region 19178 [Gene]
  • LOC130067619:ATAC-STARR-seq lymphoblastoid active region 19179 [Gene]
  • LOC130067622:ATAC-STARR-seq lymphoblastoid active region 19180 [Gene]
  • LOC130067624:ATAC-STARR-seq lymphoblastoid active region 19181 [Gene]
  • LOC130067625:ATAC-STARR-seq lymphoblastoid active region 19182 [Gene]
  • LOC130067628:ATAC-STARR-seq lymphoblastoid active region 19183 [Gene]
  • LOC130067630:ATAC-STARR-seq lymphoblastoid active region 19185 [Gene]
  • LOC130067632:ATAC-STARR-seq lymphoblastoid active region 19186 [Gene]
  • LOC130067633:ATAC-STARR-seq lymphoblastoid active region 19188 [Gene]
  • LOC130067637:ATAC-STARR-seq lymphoblastoid active region 19191 [Gene]
  • LOC130067638:ATAC-STARR-seq lymphoblastoid active region 19196 [Gene]
  • LOC130067643:ATAC-STARR-seq lymphoblastoid active region 19197 [Gene]
  • LOC130067644:ATAC-STARR-seq lymphoblastoid active region 19198 [Gene]
  • LOC130067645:ATAC-STARR-seq lymphoblastoid active region 19199 [Gene]
  • LOC130067646:ATAC-STARR-seq lymphoblastoid active region 19200 [Gene]
  • LOC130067647:ATAC-STARR-seq lymphoblastoid active region 19201 [Gene]
  • LOC130067648:ATAC-STARR-seq lymphoblastoid active region 19202 [Gene]
  • LOC130067649:ATAC-STARR-seq lymphoblastoid active region 19203 [Gene]
  • LOC130067650:ATAC-STARR-seq lymphoblastoid active region 19204 [Gene]
  • LOC130067651:ATAC-STARR-seq lymphoblastoid active region 19205 [Gene]
  • LOC130067652:ATAC-STARR-seq lymphoblastoid active region 19206 [Gene]
  • LOC130067653:ATAC-STARR-seq lymphoblastoid active region 19207 [Gene]
  • LOC130067654:ATAC-STARR-seq lymphoblastoid active region 19208 [Gene]
  • LOC130067657:ATAC-STARR-seq lymphoblastoid active region 19211 [Gene]
  • LOC130067660:ATAC-STARR-seq lymphoblastoid active region 19212 [Gene]
  • LOC130067663:ATAC-STARR-seq lymphoblastoid active region 19214 [Gene]
  • LOC130067664:ATAC-STARR-seq lymphoblastoid active region 19215 [Gene]
  • LOC130067665:ATAC-STARR-seq lymphoblastoid active region 19216 [Gene]
  • LOC130067668:ATAC-STARR-seq lymphoblastoid active region 19218 [Gene]
  • LOC130067669:ATAC-STARR-seq lymphoblastoid active region 19219 [Gene]
  • LOC130067670:ATAC-STARR-seq lymphoblastoid active region 19220 [Gene]
  • LOC130067675:ATAC-STARR-seq lymphoblastoid active region 19221 [Gene]
  • LOC130067676:ATAC-STARR-seq lymphoblastoid active region 19222 [Gene]
  • LOC130067677:ATAC-STARR-seq lymphoblastoid active region 19223 [Gene]
  • LOC130067678:ATAC-STARR-seq lymphoblastoid active region 19224 [Gene]
  • LOC130067682:ATAC-STARR-seq lymphoblastoid active region 19226 [Gene]
  • LOC130067683:ATAC-STARR-seq lymphoblastoid active region 19227 [Gene]
  • LOC130067684:ATAC-STARR-seq lymphoblastoid active region 19228 [Gene]
  • LOC130067690:ATAC-STARR-seq lymphoblastoid active region 19229 [Gene]
  • LOC130067696:ATAC-STARR-seq lymphoblastoid active region 19230 [Gene]
  • LOC130067703:ATAC-STARR-seq lymphoblastoid active region 19231 [Gene]
  • LOC130067709:ATAC-STARR-seq lymphoblastoid active region 19232 [Gene]
  • LOC130067711:ATAC-STARR-seq lymphoblastoid active region 19233 [Gene]
  • LOC130067715:ATAC-STARR-seq lymphoblastoid active region 19234 [Gene]
  • LOC130067716:ATAC-STARR-seq lymphoblastoid active region 19236 [Gene]
  • LOC130067718:ATAC-STARR-seq lymphoblastoid active region 19237 [Gene]
  • LOC130067719:ATAC-STARR-seq lymphoblastoid active region 19238 [Gene]
  • LOC130067720:ATAC-STARR-seq lymphoblastoid active region 19239 [Gene]
  • LOC130067721:ATAC-STARR-seq lymphoblastoid active region 19240 [Gene]
  • LOC130067723:ATAC-STARR-seq lymphoblastoid active region 19241 [Gene]
  • LOC130067724:ATAC-STARR-seq lymphoblastoid active region 19242 [Gene]
  • LOC130067728:ATAC-STARR-seq lymphoblastoid active region 19243 [Gene]
  • LOC130067729:ATAC-STARR-seq lymphoblastoid active region 19244 [Gene]
  • LOC130067730:ATAC-STARR-seq lymphoblastoid active region 19245 [Gene]
  • LOC130067731:ATAC-STARR-seq lymphoblastoid active region 19246 [Gene]
  • LOC130067732:ATAC-STARR-seq lymphoblastoid active region 19247 [Gene]
  • LOC130067733:ATAC-STARR-seq lymphoblastoid active region 19248 [Gene]
  • LOC130067735:ATAC-STARR-seq lymphoblastoid active region 19251 [Gene]
  • LOC130067737:ATAC-STARR-seq lymphoblastoid active region 19252 [Gene]
  • LOC130067738:ATAC-STARR-seq lymphoblastoid active region 19253 [Gene]
  • LOC130067739:ATAC-STARR-seq lymphoblastoid active region 19254 [Gene]
  • LOC130067740:ATAC-STARR-seq lymphoblastoid active region 19255 [Gene]
  • LOC130067741:ATAC-STARR-seq lymphoblastoid active region 19257 [Gene]
  • LOC130067742:ATAC-STARR-seq lymphoblastoid active region 19258 [Gene]
  • LOC130067743:ATAC-STARR-seq lymphoblastoid active region 19259 [Gene]
  • LOC130067744:ATAC-STARR-seq lymphoblastoid active region 19260 [Gene]
  • LOC130067745:ATAC-STARR-seq lymphoblastoid active region 19261 [Gene]
  • LOC130067746:ATAC-STARR-seq lymphoblastoid active region 19262 [Gene]
  • LOC130067747:ATAC-STARR-seq lymphoblastoid active region 19263 [Gene]
  • LOC130067748:ATAC-STARR-seq lymphoblastoid active region 19264 [Gene]
  • LOC130067749:ATAC-STARR-seq lymphoblastoid active region 19265 [Gene]
  • LOC130067750:ATAC-STARR-seq lymphoblastoid active region 19266 [Gene]
  • LOC130067751:ATAC-STARR-seq lymphoblastoid active region 19267 [Gene]
  • LOC130067752:ATAC-STARR-seq lymphoblastoid active region 19268 [Gene]
  • LOC130067754:ATAC-STARR-seq lymphoblastoid active region 19269 [Gene]
  • LOC130067755:ATAC-STARR-seq lymphoblastoid active region 19270 [Gene]
  • LOC130067756:ATAC-STARR-seq lymphoblastoid active region 19271 [Gene]
  • LOC130067757:ATAC-STARR-seq lymphoblastoid active region 19272 [Gene]
  • LOC130067758:ATAC-STARR-seq lymphoblastoid active region 19273 [Gene]
  • LOC130067759:ATAC-STARR-seq lymphoblastoid active region 19274 [Gene]
  • LOC130067760:ATAC-STARR-seq lymphoblastoid active region 19275 [Gene]
  • LOC130067761:ATAC-STARR-seq lymphoblastoid active region 19276 [Gene]
  • LOC130067762:ATAC-STARR-seq lymphoblastoid active region 19277 [Gene]
  • LOC130067763:ATAC-STARR-seq lymphoblastoid active region 19279 [Gene]
  • LOC130067766:ATAC-STARR-seq lymphoblastoid active region 19280 [Gene]
  • LOC130067767:ATAC-STARR-seq lymphoblastoid active region 19281 [Gene]
  • LOC130067774:ATAC-STARR-seq lymphoblastoid active region 19282 [Gene]
  • LOC130067777:ATAC-STARR-seq lymphoblastoid active region 19284 [Gene]
  • LOC130067778:ATAC-STARR-seq lymphoblastoid active region 19285 [Gene]
  • LOC130067779:ATAC-STARR-seq lymphoblastoid active region 19286 [Gene]
  • LOC130067780:ATAC-STARR-seq lymphoblastoid active region 19287 [Gene]
  • LOC130067782:ATAC-STARR-seq lymphoblastoid active region 19288 [Gene]
  • LOC130067792:ATAC-STARR-seq lymphoblastoid active region 19289 [Gene]
  • LOC130067793:ATAC-STARR-seq lymphoblastoid active region 19290 [Gene]
  • LOC130067795:ATAC-STARR-seq lymphoblastoid active region 19291 [Gene]
  • LOC130067796:ATAC-STARR-seq lymphoblastoid active region 19292 [Gene]
  • LOC130067799:ATAC-STARR-seq lymphoblastoid active region 19293 [Gene]
  • LOC130067800:ATAC-STARR-seq lymphoblastoid active region 19294 [Gene]
  • LOC130067801:ATAC-STARR-seq lymphoblastoid active region 19295 [Gene]
  • LOC130067804:ATAC-STARR-seq lymphoblastoid active region 19296 [Gene]
  • LOC130067807:ATAC-STARR-seq lymphoblastoid active region 19297 [Gene]
  • LOC130067814:ATAC-STARR-seq lymphoblastoid active region 19298 [Gene]
  • LOC130067815:ATAC-STARR-seq lymphoblastoid active region 19299 [Gene]
  • LOC130067816:ATAC-STARR-seq lymphoblastoid active region 19300 [Gene]
  • LOC130067817:ATAC-STARR-seq lymphoblastoid active region 19302 [Gene]
  • LOC130067818:ATAC-STARR-seq lymphoblastoid active region 19303 [Gene]
  • LOC130067820:ATAC-STARR-seq lymphoblastoid active region 19304 [Gene]
  • LOC130067821:ATAC-STARR-seq lymphoblastoid active region 19305 [Gene]
  • LOC130067824:ATAC-STARR-seq lymphoblastoid active region 19306 [Gene]
  • LOC130067825:ATAC-STARR-seq lymphoblastoid active region 19307 [Gene]
  • LOC130067826:ATAC-STARR-seq lymphoblastoid active region 19309 [Gene]
  • LOC130067829:ATAC-STARR-seq lymphoblastoid active region 19311 [Gene]
  • LOC130067597:ATAC-STARR-seq lymphoblastoid silent region 13825 [Gene]
  • LOC130067598:ATAC-STARR-seq lymphoblastoid silent region 13826 [Gene]
  • LOC130067599:ATAC-STARR-seq lymphoblastoid silent region 13827 [Gene]
  • LOC130067600:ATAC-STARR-seq lymphoblastoid silent region 13828 [Gene]
  • LOC130067601:ATAC-STARR-seq lymphoblastoid silent region 13829 [Gene]
  • LOC130067604:ATAC-STARR-seq lymphoblastoid silent region 13830 [Gene]
  • LOC130067605:ATAC-STARR-seq lymphoblastoid silent region 13831 [Gene]
  • LOC130067608:ATAC-STARR-seq lymphoblastoid silent region 13834 [Gene]
  • LOC130067609:ATAC-STARR-seq lymphoblastoid silent region 13835 [Gene]
  • LOC130067610:ATAC-STARR-seq lymphoblastoid silent region 13837 [Gene]
  • LOC130067611:ATAC-STARR-seq lymphoblastoid silent region 13838 [Gene]
  • LOC130067612:ATAC-STARR-seq lymphoblastoid silent region 13839 [Gene]
  • LOC130067614:ATAC-STARR-seq lymphoblastoid silent region 13840 [Gene]
  • LOC130067615:ATAC-STARR-seq lymphoblastoid silent region 13841 [Gene]
  • LOC130067616:ATAC-STARR-seq lymphoblastoid silent region 13842 [Gene]
  • LOC130067617:ATAC-STARR-seq lymphoblastoid silent region 13843 [Gene]
  • LOC130067620:ATAC-STARR-seq lymphoblastoid silent region 13845 [Gene]
  • LOC130067621:ATAC-STARR-seq lymphoblastoid silent region 13846 [Gene]
  • LOC130067623:ATAC-STARR-seq lymphoblastoid silent region 13847 [Gene]
  • LOC130067626:ATAC-STARR-seq lymphoblastoid silent region 13852 [Gene]
  • LOC130067627:ATAC-STARR-seq lymphoblastoid silent region 13854 [Gene]
  • LOC130067629:ATAC-STARR-seq lymphoblastoid silent region 13855 [Gene]
  • LOC130067631:ATAC-STARR-seq lymphoblastoid silent region 13856 [Gene]
  • LOC130067634:ATAC-STARR-seq lymphoblastoid silent region 13857 [Gene]
  • LOC130067635:ATAC-STARR-seq lymphoblastoid silent region 13858 [Gene]
  • LOC130067636:ATAC-STARR-seq lymphoblastoid silent region 13859 [Gene]
  • LOC130067639:ATAC-STARR-seq lymphoblastoid silent region 13860 [Gene]
  • LOC130067640:ATAC-STARR-seq lymphoblastoid silent region 13861 [Gene]
  • LOC130067641:ATAC-STARR-seq lymphoblastoid silent region 13862 [Gene]
  • LOC130067642:ATAC-STARR-seq lymphoblastoid silent region 13863 [Gene]
  • LOC130067655:ATAC-STARR-seq lymphoblastoid silent region 13864 [Gene]
  • LOC130067656:ATAC-STARR-seq lymphoblastoid silent region 13866 [Gene]
  • LOC130067658:ATAC-STARR-seq lymphoblastoid silent region 13867 [Gene]
  • LOC130067659:ATAC-STARR-seq lymphoblastoid silent region 13868 [Gene]
  • LOC130067661:ATAC-STARR-seq lymphoblastoid silent region 13869 [Gene]
  • LOC130067662:ATAC-STARR-seq lymphoblastoid silent region 13870 [Gene]
  • LOC130067666:ATAC-STARR-seq lymphoblastoid silent region 13872 [Gene]
  • LOC130067667:ATAC-STARR-seq lymphoblastoid silent region 13874 [Gene]
  • LOC130067671:ATAC-STARR-seq lymphoblastoid silent region 13875 [Gene]
  • LOC130067672:ATAC-STARR-seq lymphoblastoid silent region 13876 [Gene]
  • LOC130067673:ATAC-STARR-seq lymphoblastoid silent region 13877 [Gene]
  • LOC130067674:ATAC-STARR-seq lymphoblastoid silent region 13878 [Gene]
  • LOC130067679:ATAC-STARR-seq lymphoblastoid silent region 13879 [Gene]
  • LOC130067680:ATAC-STARR-seq lymphoblastoid silent region 13880 [Gene]
  • LOC130067681:ATAC-STARR-seq lymphoblastoid silent region 13881 [Gene]
  • LOC130067685:ATAC-STARR-seq lymphoblastoid silent region 13882 [Gene]
  • LOC130067686:ATAC-STARR-seq lymphoblastoid silent region 13883 [Gene]
  • LOC130067687:ATAC-STARR-seq lymphoblastoid silent region 13884 [Gene]
  • LOC130067688:ATAC-STARR-seq lymphoblastoid silent region 13885 [Gene]
  • LOC130067689:ATAC-STARR-seq lymphoblastoid silent region 13886 [Gene]
  • LOC130067691:ATAC-STARR-seq lymphoblastoid silent region 13887 [Gene]
  • LOC130067692:ATAC-STARR-seq lymphoblastoid silent region 13888 [Gene]
  • LOC130067693:ATAC-STARR-seq lymphoblastoid silent region 13889 [Gene]
  • LOC130067694:ATAC-STARR-seq lymphoblastoid silent region 13890 [Gene]
  • LOC130067695:ATAC-STARR-seq lymphoblastoid silent region 13891 [Gene]
  • LOC130067697:ATAC-STARR-seq lymphoblastoid silent region 13892 [Gene]
  • LOC130067698:ATAC-STARR-seq lymphoblastoid silent region 13893 [Gene]
  • LOC130067699:ATAC-STARR-seq lymphoblastoid silent region 13894 [Gene]
  • LOC130067700:ATAC-STARR-seq lymphoblastoid silent region 13895 [Gene]
  • LOC130067701:ATAC-STARR-seq lymphoblastoid silent region 13896 [Gene]
  • LOC130067702:ATAC-STARR-seq lymphoblastoid silent region 13897 [Gene]
  • LOC130067704:ATAC-STARR-seq lymphoblastoid silent region 13898 [Gene]
  • LOC130067705:ATAC-STARR-seq lymphoblastoid silent region 13899 [Gene]
  • LOC130067706:ATAC-STARR-seq lymphoblastoid silent region 13900 [Gene]
  • LOC130067707:ATAC-STARR-seq lymphoblastoid silent region 13903 [Gene]
  • LOC130067708:ATAC-STARR-seq lymphoblastoid silent region 13904 [Gene]
  • LOC130067710:ATAC-STARR-seq lymphoblastoid silent region 13905 [Gene]
  • LOC130067712:ATAC-STARR-seq lymphoblastoid silent region 13907 [Gene]
  • LOC130067713:ATAC-STARR-seq lymphoblastoid silent region 13908 [Gene]
  • LOC130067714:ATAC-STARR-seq lymphoblastoid silent region 13909 [Gene]
  • LOC130067717:ATAC-STARR-seq lymphoblastoid silent region 13911 [Gene]
  • LOC130067722:ATAC-STARR-seq lymphoblastoid silent region 13912 [Gene]
  • LOC130067725:ATAC-STARR-seq lymphoblastoid silent region 13913 [Gene]
  • LOC130067726:ATAC-STARR-seq lymphoblastoid silent region 13914 [Gene]
  • LOC130067727:ATAC-STARR-seq lymphoblastoid silent region 13915 [Gene]
  • LOC130067734:ATAC-STARR-seq lymphoblastoid silent region 13916 [Gene]
  • LOC130067736:ATAC-STARR-seq lymphoblastoid silent region 13917 [Gene]
  • LOC130067753:ATAC-STARR-seq lymphoblastoid silent region 13919 [Gene]
  • LOC130067764:ATAC-STARR-seq lymphoblastoid silent region 13920 [Gene]
  • LOC130067765:ATAC-STARR-seq lymphoblastoid silent region 13921 [Gene]
  • LOC130067768:ATAC-STARR-seq lymphoblastoid silent region 13922 [Gene]
  • LOC130067769:ATAC-STARR-seq lymphoblastoid silent region 13923 [Gene]
  • LOC130067770:ATAC-STARR-seq lymphoblastoid silent region 13924 [Gene]
  • LOC130067771:ATAC-STARR-seq lymphoblastoid silent region 13925 [Gene]
  • LOC130067772:ATAC-STARR-seq lymphoblastoid silent region 13926 [Gene]
  • LOC130067773:ATAC-STARR-seq lymphoblastoid silent region 13927 [Gene]
  • LOC130067775:ATAC-STARR-seq lymphoblastoid silent region 13928 [Gene]
  • LOC130067776:ATAC-STARR-seq lymphoblastoid silent region 13929 [Gene]
  • LOC130067781:ATAC-STARR-seq lymphoblastoid silent region 13930 [Gene]
  • LOC130067783:ATAC-STARR-seq lymphoblastoid silent region 13931 [Gene]
  • LOC130067784:ATAC-STARR-seq lymphoblastoid silent region 13932 [Gene]
  • LOC130067785:ATAC-STARR-seq lymphoblastoid silent region 13935 [Gene]
  • LOC130067786:ATAC-STARR-seq lymphoblastoid silent region 13936 [Gene]
  • LOC130067787:ATAC-STARR-seq lymphoblastoid silent region 13937 [Gene]
  • LOC130067788:ATAC-STARR-seq lymphoblastoid silent region 13938 [Gene]
  • LOC130067789:ATAC-STARR-seq lymphoblastoid silent region 13939 [Gene]
  • LOC130067790:ATAC-STARR-seq lymphoblastoid silent region 13940 [Gene]
  • LOC130067791:ATAC-STARR-seq lymphoblastoid silent region 13941 [Gene]
  • LOC130067794:ATAC-STARR-seq lymphoblastoid silent region 13942 [Gene]
  • LOC130067797:ATAC-STARR-seq lymphoblastoid silent region 13943 [Gene]
  • LOC130067798:ATAC-STARR-seq lymphoblastoid silent region 13944 [Gene]
  • LOC130067802:ATAC-STARR-seq lymphoblastoid silent region 13945 [Gene]
  • LOC130067803:ATAC-STARR-seq lymphoblastoid silent region 13946 [Gene]
  • LOC130067805:ATAC-STARR-seq lymphoblastoid silent region 13947 [Gene]
  • LOC130067806:ATAC-STARR-seq lymphoblastoid silent region 13948 [Gene]
  • LOC130067808:ATAC-STARR-seq lymphoblastoid silent region 13949 [Gene]
  • LOC130067809:ATAC-STARR-seq lymphoblastoid silent region 13950 [Gene]
  • LOC130067810:ATAC-STARR-seq lymphoblastoid silent region 13951 [Gene]
  • LOC130067811:ATAC-STARR-seq lymphoblastoid silent region 13952 [Gene]
  • LOC130067812:ATAC-STARR-seq lymphoblastoid silent region 13953 [Gene]
  • LOC130067813:ATAC-STARR-seq lymphoblastoid silent region 13954 [Gene]
  • LOC130067819:ATAC-STARR-seq lymphoblastoid silent region 13955 [Gene]
  • LOC130067822:ATAC-STARR-seq lymphoblastoid silent region 13956 [Gene]
  • LOC130067823:ATAC-STARR-seq lymphoblastoid silent region 13957 [Gene]
  • LOC130067827:ATAC-STARR-seq lymphoblastoid silent region 13958 [Gene]
  • LOC130067828:ATAC-STARR-seq lymphoblastoid silent region 13959 [Gene]
  • LOC130067830:ATAC-STARR-seq lymphoblastoid silent region 13960 [Gene]
  • LOC130067831:ATAC-STARR-seq lymphoblastoid silent region 13961 [Gene]
  • LOC130067832:ATAC-STARR-seq lymphoblastoid silent region 13962 [Gene]
  • LOC130067833:ATAC-STARR-seq lymphoblastoid silent region 13963 [Gene]
  • LOC130067834:ATAC-STARR-seq lymphoblastoid silent region 13964 [Gene]
  • ATP5MGL:ATP synthase membrane subunit g like [Gene - HGNC]
  • BIK:BCL2 interacting killer [Gene - OMIM - HGNC]
  • LOC126863161:BRD4-independent group 4 enhancer GRCh37_chr22:43659412-43660611 [Gene]
  • LOC126863164:BRD4-independent group 4 enhancer GRCh37_chr22:45264084-45265283 [Gene]
  • LOC126863165:BRD4-independent group 4 enhancer GRCh37_chr22:45468530-45469729 [Gene]
  • LOC126863169:BRD4-independent group 4 enhancer GRCh37_chr22:46782038-46783237 [Gene]
  • LOC126863174:BRD4-independent group 4 enhancer GRCh37_chr22:47550202-47551401 [Gene]
  • LOC126863179:BRD4-independent group 4 enhancer GRCh37_chr22:48279628-48280827 [Gene]
  • LOC112695105:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:46034441-46035640 [Gene]
  • LOC121627952:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:46772879-46774078 [Gene]
  • LOC126863170:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:46858535-46859734 [Gene]
  • LOC126088082:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:47571494-47572693 [Gene]
  • LOC126863180:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:48841523-48842722 [Gene]
  • LOC126863183:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:49678386-49679585 [Gene]
  • POLDIP3:DNA polymerase delta interacting protein 3 [Gene - OMIM - HGNC]
  • EFCAB6:EF-hand calcium binding domain 6 [Gene - OMIM - HGNC]
  • EFCAB6-AS1:EFCAB6 antisense RNA 1 [Gene - HGNC]
  • EFCAB6-DT:EFCAB6 divergent transcript [Gene - HGNC]
  • GTSE1:G2 and S-phase expressed 1 [Gene - OMIM - HGNC]
  • GRAMD4:GRAM domain containing 4 [Gene - OMIM - HGNC]
  • GTSE1-DT:GTSE1 divergent transcript [Gene - HGNC]
  • LOC111556137:HNF1 motif-containing MPRA enhancer 63 [Gene]
  • KIAA0930:KIAA0930 [Gene - OMIM - HGNC]
  • LOC126863162:MED14-independent group 3 enhancer GRCh37_chr22:44293320-44294519 [Gene]
  • LOC126863163:MED14-independent group 3 enhancer GRCh37_chr22:44844727-44845926 [Gene]
  • LOC126863171:MED14-independent group 3 enhancer GRCh37_chr22:47106581-47107780 [Gene]
  • LOC126863178:MED14-independent group 3 enhancer GRCh37_chr22:48268308-48269507 [Gene]
  • LOC126863181:MED14-independent group 3 enhancer GRCh37_chr22:49479476-49480675 [Gene]
  • MIR3667HG:MIR3667 host gene [Gene - HGNC]
  • MIRLET7BHG:MIRLET7B host gene [Gene - OMIM - HGNC]
  • LOC129391285:MPRA-validated peak4505 silencer [Gene]
  • LOC129391286:MPRA-validated peak4509 silencer [Gene]
  • LOC129391287:MPRA-validated peak4510 silencer [Gene]
  • LOC129391288:MPRA-validated peak4515 silencer [Gene]
  • LOC129391289:MPRA-validated peak4516 silencer [Gene]
  • LOC129391290:MPRA-validated peak4517 silencer [Gene]
  • LOC129391291:MPRA-validated peak4519 silencer [Gene]
  • MOV10L1:Mov10 like RNA helicase 1 [Gene - OMIM - HGNC]
  • NUP50-DT:NUP50 divergent transcript [Gene - HGNC]
  • LOC132090652:Neanderthal introgressed variant-containing enhancer experimental_63425 [Gene]
  • LOC132090653:Neanderthal introgressed variant-containing enhancer experimental_63485 [Gene]
  • LOC132090654:Neanderthal introgressed variant-containing enhancer experimental_63487 [Gene]
  • LOC132090923:Neanderthal introgressed variant-containing enhancer experimental_63550 [Gene]
  • LOC132090655:Neanderthal introgressed variant-containing enhancer experimental_63573 [Gene]
  • LOC132090656:Neanderthal introgressed variant-containing enhancer experimental_63615 [Gene]
  • LOC132090924:Neanderthal introgressed variant-containing enhancer experimental_63621 [Gene]
  • LOC132090657:Neanderthal introgressed variant-containing enhancer experimental_63692 [Gene]
  • LOC126863166:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:46021696-46022895 [Gene]
  • LOC111828508:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:46364456-46365655 [Gene]
  • LOC126863167:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:46481213-46482412 [Gene]
  • LOC126863168:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:46718535-46719734 [Gene]
  • LOC126863172:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47330185-47331384 [Gene]
  • LOC126863173:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47525234-47526433 [Gene]
  • LOC126863175:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47724406-47725605 [Gene]
  • LOC126863176:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47765496-47766695 [Gene]
  • LOC126863177:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47983860-47985059 [Gene]
  • LOC126863182:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:49583849-49585048 [Gene]
  • PHF21B:PHD finger protein 21B [Gene - OMIM - HGNC]
  • PRR34-AS1:PRR34 antisense RNA 1 [Gene - HGNC]
  • PRR34:PRR34 long non-coding RNA [Gene - HGNC]
  • PRR5-ARHGAP8:PRR5-ARHGAP8 readthrough [Gene - HGNC]
  • PIM3:Pim-3 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
  • RIBC2:RIB43A domain with coiled-coils 2 [Gene - HGNC]
  • RNU12:RNA, U12 small nuclear [Gene - OMIM - HGNC]
  • ARHGAP8:Rho GTPase activating protein 8 [Gene - OMIM - HGNC]
  • SAMM50:SAMM50 sorting and assembly machinery component [Gene - OMIM - HGNC]
  • SCUBE1-AS1:SCUBE1 antisense RNA 1 [Gene - HGNC]
  • SCUBE1-AS2:SCUBE1 antisense RNA 2 [Gene - HGNC]
  • SELENOO-AS1:SELENOO antisense RNA 1 [Gene - HGNC]
  • LOC121627954:Sharpr-MPRA regulatory region 10248 [Gene]
  • LOC121627951:Sharpr-MPRA regulatory region 10691 [Gene]
  • LOC112695108:Sharpr-MPRA regulatory region 10948 [Gene]
  • LOC112695107:Sharpr-MPRA regulatory region 11110 [Gene]
  • LOC125446259:Sharpr-MPRA regulatory region 11654 [Gene]
  • LOC121627949:Sharpr-MPRA regulatory region 12495 [Gene]
  • LOC121627955:Sharpr-MPRA regulatory region 13395 [Gene]
  • LOC114004363:Sharpr-MPRA regulatory region 15126 [Gene]
  • LOC125446254:Sharpr-MPRA regulatory region 15411 [Gene]
  • LOC112695102:Sharpr-MPRA regulatory region 1755 [Gene]
  • LOC121627948:Sharpr-MPRA regulatory region 1995 [Gene]
  • LOC121853044:Sharpr-MPRA regulatory region 2357 [Gene]
  • LOC112695104:Sharpr-MPRA regulatory region 3085 [Gene]
  • LOC114004364:Sharpr-MPRA regulatory region 3533 [Gene]
  • LOC125446257:Sharpr-MPRA regulatory region 3871 [Gene]
  • LOC112695106:Sharpr-MPRA regulatory region 4711 [Gene]
  • LOC125446255:Sharpr-MPRA regulatory region 5104 [Gene]
  • LOC121627950:Sharpr-MPRA regulatory region 5125 [Gene]
  • LOC112695103:Sharpr-MPRA regulatory region 5228 [Gene]
  • LOC112695101:Sharpr-MPRA regulatory region 5708 [Gene]
  • LOC125446258:Sharpr-MPRA regulatory region 6253 [Gene]
  • LOC121853045:Sharpr-MPRA regulatory region 7153 [Gene]
  • LOC121853046:Sharpr-MPRA regulatory region 7347 [Gene]
  • LOC125446260:Sharpr-MPRA regulatory region 8073 [Gene]
  • LOC121627953:Sharpr-MPRA regulatory region 8687 [Gene]
  • LOC125446250:Sharpr-MPRA regulatory region 8887 [Gene]
  • LOC121627947:Sharpr-MPRA regulatory region 9313 [Gene]
  • LOC125446261:Sharpr-MPRA regulatory region 9327 [Gene]
  • LOC125446253:Sharpr-MPRA regulatory region 987 [Gene]
  • LOC112695100:Sharpr-MPRA regulatory region 9885 [Gene]
  • LOC111828509:Sharpr-MPRA regulatory regions 3830 and 4902 [Gene]
  • TAFA5:TAFA chemokine like family member 5 [Gene - OMIM - HGNC]
  • TBC1D22A:TBC1 domain family member 22A [Gene - OMIM - HGNC]
  • TBC1D22A-AS1:TBC1D22A antisense RNA 1 [Gene - HGNC]
  • TBC1D22A-DT:TBC1D22A divergent transcript [Gene - HGNC]
  • TRABD-AS1:TRABD antisense RNA 1 [Gene - HGNC]
  • TTLL1:TTL family tubulin polyglutamylase complex subunit L1 [Gene - OMIM - HGNC]
  • TTLL1-AS1:TTLL1 antisense RNA 1 [Gene - HGNC]
  • TRABD:TraB domain containing [Gene - HGNC]
  • LOC110121397:VISTA enhancer hs1559 [Gene]
  • LOC114827849:VISTA enhancer hs1924 [Gene]
  • WNT7B:Wnt family member 7B [Gene - OMIM - HGNC]
  • A4GALT:alpha 1,4-galactosyltransferase (P1PK blood group) [Gene - OMIM - HGNC]
  • LOC108660404:ataxin 10 repeat instability region [Gene]
  • ATXN10:ataxin 10 [Gene - OMIM - HGNC]
  • BRD1:bromodomain containing 1 [Gene - OMIM - HGNC]
  • CELSR1:cadherin EGF LAG seven-pass G-type receptor 1 [Gene - OMIM - HGNC]
  • CERK:ceramide kinase [Gene - OMIM - HGNC]
  • CDPF1:cysteine rich DPF motif domain containing 1 [Gene - HGNC]
  • CRELD2:cysteine rich with EGF like domains 2 [Gene - OMIM - HGNC]
  • CYB5R3:cytochrome b5 reductase 3 [Gene - OMIM - HGNC]
  • EPIC1:epigenetically induced MYC interacting lncRNA 1 [Gene - HGNC]
  • FAM118A:family with sequence similarity 118 member A [Gene - HGNC]
  • FBLN1:fibulin 1 [Gene - OMIM - HGNC]
  • HDAC10:histone deacetylase 10 [Gene - OMIM - HGNC]
  • IL17REL:interleukin 17 receptor E like [Gene - OMIM - HGNC]
  • LINC01310:long intergenic non-protein coding RNA 1310 [Gene - HGNC]
  • LINC01589:long intergenic non-protein coding RNA 1589 [Gene - HGNC]
  • LINC01639:long intergenic non-protein coding RNA 1639 [Gene - HGNC]
  • LINC01644:long intergenic non-protein coding RNA 1644 [Gene - HGNC]
  • LINC01656:long intergenic non-protein coding RNA 1656 [Gene - HGNC]
  • LINC00207:long intergenic non-protein coding RNA 207 [Gene - HGNC]
  • LINC00229:long intergenic non-protein coding RNA 229 [Gene - HGNC]
  • LINC02925:long intergenic non-protein coding RNA 2925 [Gene - HGNC]
  • LINC02939:long intergenic non-protein coding RNA 2939 [Gene - HGNC]
  • LINC00898:long intergenic non-protein coding RNA 898 [Gene - HGNC]
  • LINC00899:long intergenic non-protein coding RNA 899 [Gene - HGNC]
  • MCAT:malonyl-CoA-acyl carrier protein transacylase [Gene - OMIM - HGNC]
  • LOC107832855:meiotic recombination hotspot 22A [Gene]
  • LOC128772436:melanoma risk locus-associated MPRA allelic enhancer 22:45598280 [Gene]
  • LOC128772437:melanoma risk locus-associated MPRA allelic enhancer 22:45629066 [Gene]
  • LOC128772438:melanoma risk locus-associated MPRA allelic enhancer 22:45631393 [Gene]
  • MPPED1:metallophosphoesterase domain containing 1 [Gene - OMIM - HGNC]
  • MIR1249:microRNA 1249 [Gene - HGNC]
  • MIR3201:microRNA 3201 [Gene - HGNC]
  • MIR3619:microRNA 3619 [Gene - HGNC]
  • MIR3667:microRNA 3667 [Gene - HGNC]
  • MIR4535:microRNA 4535 [Gene - HGNC]
  • MIR4762:microRNA 4762 [Gene - HGNC]
  • MIR4763:microRNA 4763 [Gene - HGNC]
  • MIR6821:microRNA 6821 [Gene - HGNC]
  • MIRLET7A3:microRNA let-7a-3 [Gene - OMIM - HGNC]
  • MIRLET7B:microRNA let-7b [Gene - OMIM - HGNC]
  • MAPK11:mitogen-activated protein kinase 11 [Gene - OMIM - HGNC]
  • MAPK12:mitogen-activated protein kinase 12 [Gene - OMIM - HGNC]
  • MLC1:modulator of VRAC current 1 [Gene - OMIM - HGNC]
  • NHIP:neuronal hypoxia inducible, placenta associated [Gene - HGNC]
  • NUP50:nucleoporin 50 [Gene - OMIM - HGNC]
  • LOC107181287:origin of replication for ATXN10 repeat region [Gene]
  • PANX2:pannexin 2 [Gene - OMIM - HGNC]
  • PARVB:parvin beta [Gene - OMIM - HGNC]
  • PARVG:parvin gamma [Gene - OMIM - HGNC]
  • PNPLA3:patatin like phospholipase domain containing 3 [Gene - OMIM - HGNC]
  • PNPLA5:patatin like phospholipase domain containing 5 [Gene - OMIM - HGNC]
  • PPARA:peroxisome proliferator activated receptor alpha [Gene - OMIM - HGNC]
  • PKDREJ:polycystin family receptor for egg jelly [Gene - OMIM - HGNC]
  • PRR5:proline rich 5 [Gene - OMIM - HGNC]
  • PACSIN2:protein kinase C and casein kinase substrate in neurons 2 [Gene - OMIM - HGNC]
  • RTL6:retrotransposon Gag like 6 [Gene - HGNC]
  • RRP7A:ribosomal RNA processing 7 homolog A [Gene - OMIM - HGNC]
  • SELENOO:selenoprotein O [Gene - OMIM - HGNC]
  • SERHL2:serine hydrolase like 2 [Gene - OMIM - HGNC]
  • SHISAL1:shisa like 1 [Gene - OMIM - HGNC]
  • SCUBE1:signal peptide, CUB domain and EGF like domain containing 1 [Gene - OMIM - HGNC]
  • SMC1B:structural maintenance of chromosomes 1B [Gene - OMIM - HGNC]
  • SULT4A1:sulfotransferase family 4A member 1 [Gene - OMIM - HGNC]
  • TRMU:tRNA mitochondrial 2-thiouridylase [Gene - OMIM - HGNC]
  • TRU-TCA2-1:tRNA-SeC (anticodon TCA) 2-1 [Gene - HGNC]
  • TTC38:tetratricopeptide repeat domain 38 [Gene - HGNC]
  • TSPO:translocator protein [Gene - OMIM - HGNC]
  • TUBGCP6:tubulin gamma complex component 6 [Gene - OMIM - HGNC]
  • TTLL12:tubulin tyrosine ligase like 12 [Gene - OMIM - HGNC]
  • TTLL8:tubulin tyrosine ligase like 8 [Gene - OMIM - HGNC]
  • LOC101927551:uncharacterized LOC101927551 [Gene]
  • LOC105373064:uncharacterized LOC105373064 [Gene]
  • LOC105377205:uncharacterized LOC105377205 [Gene]
  • LOC107985535:uncharacterized LOC107985535 [Gene]
  • LOC284933:uncharacterized LOC284933 [Gene]
  • LOC339685:uncharacterized LOC339685 [Gene]
  • UPK3A:uroplakin 3A [Gene - OMIM - HGNC]
  • ZBED4:zinc finger BED-type containing 4 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
22q13.2-13.33
Genomic location:
Preferred name:
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1
HGVS:
  • NC_000022.11:g.(?_42493445)_(50268479_?)del
  • NC_000022.10:g.(?_42889451)_(50706908_?)del
  • NC_000022.9:g.(?_41219395)_(49049035_?)del
Links:
dbVar: nssv582157; dbVar: nsv534133
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
SCV000176909ISCA site 8

See additional submitters

no assertion criteria provided
Pathogenic
(Jan 30, 2010) 		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 8, SCV000176909.3

#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