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GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 18, 2014
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:
RCV000142317.7

Allele description [Variation Report for GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3]

GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3

Genes:
  • ARID3C:AT-rich interaction domain 3C [Gene - OMIM - HGNC]
  • LOC130001622:ATAC-STARR-seq lymphoblastoid active region 28256 [Gene]
  • LOC130001623:ATAC-STARR-seq lymphoblastoid active region 28257 [Gene]
  • LOC130001624:ATAC-STARR-seq lymphoblastoid active region 28258 [Gene]
  • LOC130001625:ATAC-STARR-seq lymphoblastoid active region 28259 [Gene]
  • LOC130001626:ATAC-STARR-seq lymphoblastoid active region 28260 [Gene]
  • LOC130001628:ATAC-STARR-seq lymphoblastoid active region 28262 [Gene]
  • LOC130001631:ATAC-STARR-seq lymphoblastoid active region 28265 [Gene]
  • LOC130001632:ATAC-STARR-seq lymphoblastoid active region 28266 [Gene]
  • LOC130001633:ATAC-STARR-seq lymphoblastoid active region 28269 [Gene]
  • LOC130001634:ATAC-STARR-seq lymphoblastoid active region 28270 [Gene]
  • LOC130001635:ATAC-STARR-seq lymphoblastoid active region 28271 [Gene]
  • LOC130001636:ATAC-STARR-seq lymphoblastoid active region 28272 [Gene]
  • LOC130001637:ATAC-STARR-seq lymphoblastoid active region 28273 [Gene]
  • LOC130001638:ATAC-STARR-seq lymphoblastoid active region 28274 [Gene]
  • LOC130001639:ATAC-STARR-seq lymphoblastoid active region 28275 [Gene]
  • LOC130001640:ATAC-STARR-seq lymphoblastoid active region 28276 [Gene]
  • LOC130001641:ATAC-STARR-seq lymphoblastoid active region 28277 [Gene]
  • LOC130001642:ATAC-STARR-seq lymphoblastoid active region 28278 [Gene]
  • LOC130001643:ATAC-STARR-seq lymphoblastoid active region 28279 [Gene]
  • LOC130001644:ATAC-STARR-seq lymphoblastoid active region 28280 [Gene]
  • LOC130001645:ATAC-STARR-seq lymphoblastoid active region 28282 [Gene]
  • LOC130001646:ATAC-STARR-seq lymphoblastoid active region 28283 [Gene]
  • LOC130001647:ATAC-STARR-seq lymphoblastoid active region 28286 [Gene]
  • LOC130001648:ATAC-STARR-seq lymphoblastoid active region 28287 [Gene]
  • LOC130001649:ATAC-STARR-seq lymphoblastoid active region 28288 [Gene]
  • LOC130001650:ATAC-STARR-seq lymphoblastoid active region 28289 [Gene]
  • LOC130001651:ATAC-STARR-seq lymphoblastoid active region 28290 [Gene]
  • LOC130001653:ATAC-STARR-seq lymphoblastoid active region 28291 [Gene]
  • LOC130001654:ATAC-STARR-seq lymphoblastoid active region 28292 [Gene]
  • LOC130001656:ATAC-STARR-seq lymphoblastoid active region 28297 [Gene]
  • LOC130001657:ATAC-STARR-seq lymphoblastoid active region 28298 [Gene]
  • LOC130001658:ATAC-STARR-seq lymphoblastoid active region 28299 [Gene]
  • LOC130001659:ATAC-STARR-seq lymphoblastoid active region 28300 [Gene]
  • LOC130001660:ATAC-STARR-seq lymphoblastoid active region 28301 [Gene]
  • LOC130001661:ATAC-STARR-seq lymphoblastoid active region 28302 [Gene]
  • LOC130001667:ATAC-STARR-seq lymphoblastoid active region 28303 [Gene]
  • LOC130001668:ATAC-STARR-seq lymphoblastoid active region 28306 [Gene]
  • LOC130001670:ATAC-STARR-seq lymphoblastoid active region 28307 [Gene]
  • LOC130001671:ATAC-STARR-seq lymphoblastoid active region 28308 [Gene]
  • LOC130001677:ATAC-STARR-seq lymphoblastoid active region 28311 [Gene]
  • LOC130001678:ATAC-STARR-seq lymphoblastoid active region 28312 [Gene]
  • LOC130001682:ATAC-STARR-seq lymphoblastoid active region 28313 [Gene]
  • LOC130001683:ATAC-STARR-seq lymphoblastoid active region 28314 [Gene]
  • LOC130001687:ATAC-STARR-seq lymphoblastoid active region 28315 [Gene]
  • LOC130001689:ATAC-STARR-seq lymphoblastoid active region 28316 [Gene]
  • LOC130001691:ATAC-STARR-seq lymphoblastoid active region 28317 [Gene]
  • LOC130001692:ATAC-STARR-seq lymphoblastoid active region 28318 [Gene]
  • LOC130001693:ATAC-STARR-seq lymphoblastoid active region 28319 [Gene]
  • LOC130001694:ATAC-STARR-seq lymphoblastoid active region 28320 [Gene]
  • LOC130001695:ATAC-STARR-seq lymphoblastoid active region 28321 [Gene]
  • LOC130001696:ATAC-STARR-seq lymphoblastoid active region 28322 [Gene]
  • LOC130001697:ATAC-STARR-seq lymphoblastoid active region 28323 [Gene]
  • LOC130001698:ATAC-STARR-seq lymphoblastoid active region 28324 [Gene]
  • LOC130001704:ATAC-STARR-seq lymphoblastoid active region 28325 [Gene]
  • LOC130001706:ATAC-STARR-seq lymphoblastoid active region 28326 [Gene]
  • LOC130001709:ATAC-STARR-seq lymphoblastoid active region 28327 [Gene]
  • LOC130001710:ATAC-STARR-seq lymphoblastoid active region 28328 [Gene]
  • LOC130001711:ATAC-STARR-seq lymphoblastoid active region 28329 [Gene]
  • LOC130001712:ATAC-STARR-seq lymphoblastoid active region 28330 [Gene]
  • LOC130001715:ATAC-STARR-seq lymphoblastoid active region 28331 [Gene]
  • LOC130001718:ATAC-STARR-seq lymphoblastoid active region 28332 [Gene]
  • LOC130001719:ATAC-STARR-seq lymphoblastoid active region 28333 [Gene]
  • LOC130001720:ATAC-STARR-seq lymphoblastoid active region 28334 [Gene]
  • LOC130001723:ATAC-STARR-seq lymphoblastoid active region 28335 [Gene]
  • LOC130001724:ATAC-STARR-seq lymphoblastoid active region 28336 [Gene]
  • LOC130001731:ATAC-STARR-seq lymphoblastoid active region 28338 [Gene]
  • LOC130001733:ATAC-STARR-seq lymphoblastoid active region 28339 [Gene]
  • LOC130001735:ATAC-STARR-seq lymphoblastoid active region 28340 [Gene]
  • LOC130001736:ATAC-STARR-seq lymphoblastoid active region 28341 [Gene]
  • LOC130001737:ATAC-STARR-seq lymphoblastoid active region 28342 [Gene]
  • LOC130001738:ATAC-STARR-seq lymphoblastoid active region 28343 [Gene]
  • LOC130001743:ATAC-STARR-seq lymphoblastoid active region 28344 [Gene]
  • LOC130001746:ATAC-STARR-seq lymphoblastoid active region 28345 [Gene]
  • LOC130001747:ATAC-STARR-seq lymphoblastoid active region 28346 [Gene]
  • LOC130001748:ATAC-STARR-seq lymphoblastoid active region 28347 [Gene]
  • LOC130001750:ATAC-STARR-seq lymphoblastoid active region 28349 [Gene]
  • LOC130001751:ATAC-STARR-seq lymphoblastoid active region 28350 [Gene]
  • LOC130001754:ATAC-STARR-seq lymphoblastoid active region 28351 [Gene]
  • LOC130001755:ATAC-STARR-seq lymphoblastoid active region 28352 [Gene]
  • LOC130001758:ATAC-STARR-seq lymphoblastoid active region 28353 [Gene]
  • LOC130001759:ATAC-STARR-seq lymphoblastoid active region 28354 [Gene]
  • LOC130001761:ATAC-STARR-seq lymphoblastoid active region 28355 [Gene]
  • LOC130001763:ATAC-STARR-seq lymphoblastoid active region 28356 [Gene]
  • LOC130001765:ATAC-STARR-seq lymphoblastoid active region 28357 [Gene]
  • LOC130001766:ATAC-STARR-seq lymphoblastoid active region 28358 [Gene]
  • LOC130001767:ATAC-STARR-seq lymphoblastoid active region 28359 [Gene]
  • LOC130001768:ATAC-STARR-seq lymphoblastoid active region 28360 [Gene]
  • LOC130001769:ATAC-STARR-seq lymphoblastoid active region 28361 [Gene]
  • LOC130001770:ATAC-STARR-seq lymphoblastoid active region 28362 [Gene]
  • LOC130001771:ATAC-STARR-seq lymphoblastoid active region 28363 [Gene]
  • LOC130001772:ATAC-STARR-seq lymphoblastoid active region 28364 [Gene]
  • LOC130001773:ATAC-STARR-seq lymphoblastoid active region 28365 [Gene]
  • LOC130001774:ATAC-STARR-seq lymphoblastoid active region 28366 [Gene]
  • LOC130001775:ATAC-STARR-seq lymphoblastoid active region 28368 [Gene]
  • LOC130001776:ATAC-STARR-seq lymphoblastoid active region 28369 [Gene]
  • LOC130001777:ATAC-STARR-seq lymphoblastoid active region 28370 [Gene]
  • LOC130001779:ATAC-STARR-seq lymphoblastoid active region 28371 [Gene]
  • LOC130001780:ATAC-STARR-seq lymphoblastoid active region 28373 [Gene]
  • LOC130001781:ATAC-STARR-seq lymphoblastoid active region 28374 [Gene]
  • LOC130001783:ATAC-STARR-seq lymphoblastoid active region 28375 [Gene]
  • LOC130001784:ATAC-STARR-seq lymphoblastoid active region 28376 [Gene]
  • LOC130001785:ATAC-STARR-seq lymphoblastoid active region 28377 [Gene]
  • LOC130001786:ATAC-STARR-seq lymphoblastoid active region 28378 [Gene]
  • LOC130001787:ATAC-STARR-seq lymphoblastoid active region 28379 [Gene]
  • LOC130001788:ATAC-STARR-seq lymphoblastoid active region 28380 [Gene]
  • LOC130001789:ATAC-STARR-seq lymphoblastoid active region 28382 [Gene]
  • LOC130001790:ATAC-STARR-seq lymphoblastoid active region 28383 [Gene]
  • LOC130001791:ATAC-STARR-seq lymphoblastoid active region 28384 [Gene]
  • LOC130001792:ATAC-STARR-seq lymphoblastoid active region 28385 [Gene]
  • LOC130001793:ATAC-STARR-seq lymphoblastoid active region 28386 [Gene]
  • LOC130001794:ATAC-STARR-seq lymphoblastoid active region 28387 [Gene]
  • LOC130001796:ATAC-STARR-seq lymphoblastoid active region 28388 [Gene]
  • LOC130001797:ATAC-STARR-seq lymphoblastoid active region 28389 [Gene]
  • LOC130001798:ATAC-STARR-seq lymphoblastoid active region 28390 [Gene]
  • LOC130001799:ATAC-STARR-seq lymphoblastoid active region 28391 [Gene]
  • LOC130001800:ATAC-STARR-seq lymphoblastoid active region 28392 [Gene]
  • LOC130001801:ATAC-STARR-seq lymphoblastoid active region 28394 [Gene]
  • LOC130001802:ATAC-STARR-seq lymphoblastoid active region 28395 [Gene]
  • LOC130001803:ATAC-STARR-seq lymphoblastoid active region 28396 [Gene]
  • LOC130001805:ATAC-STARR-seq lymphoblastoid active region 28397 [Gene]
  • LOC130001806:ATAC-STARR-seq lymphoblastoid active region 28398 [Gene]
  • LOC130001807:ATAC-STARR-seq lymphoblastoid active region 28399 [Gene]
  • LOC130001809:ATAC-STARR-seq lymphoblastoid active region 28400 [Gene]
  • LOC130001811:ATAC-STARR-seq lymphoblastoid active region 28401 [Gene]
  • LOC130001814:ATAC-STARR-seq lymphoblastoid active region 28402 [Gene]
  • LOC130001816:ATAC-STARR-seq lymphoblastoid active region 28404 [Gene]
  • LOC130001818:ATAC-STARR-seq lymphoblastoid active region 28405 [Gene]
  • LOC130001819:ATAC-STARR-seq lymphoblastoid active region 28406 [Gene]
  • LOC130001820:ATAC-STARR-seq lymphoblastoid active region 28407 [Gene]
  • LOC130001821:ATAC-STARR-seq lymphoblastoid active region 28408 [Gene]
  • LOC130001824:ATAC-STARR-seq lymphoblastoid active region 28410 [Gene]
  • LOC130001825:ATAC-STARR-seq lymphoblastoid active region 28411 [Gene]
  • LOC130001826:ATAC-STARR-seq lymphoblastoid active region 28412 [Gene]
  • LOC130001827:ATAC-STARR-seq lymphoblastoid active region 28413 [Gene]
  • LOC130001828:ATAC-STARR-seq lymphoblastoid active region 28414 [Gene]
  • LOC130001830:ATAC-STARR-seq lymphoblastoid active region 28415 [Gene]
  • LOC130001831:ATAC-STARR-seq lymphoblastoid active region 28416 [Gene]
  • LOC130001832:ATAC-STARR-seq lymphoblastoid active region 28417 [Gene]
  • LOC130001833:ATAC-STARR-seq lymphoblastoid active region 28418 [Gene]
  • LOC130001621:ATAC-STARR-seq lymphoblastoid silent region 19824 [Gene]
  • LOC130001627:ATAC-STARR-seq lymphoblastoid silent region 19825 [Gene]
  • LOC130001629:ATAC-STARR-seq lymphoblastoid silent region 19826 [Gene]
  • LOC130001630:ATAC-STARR-seq lymphoblastoid silent region 19827 [Gene]
  • LOC130001652:ATAC-STARR-seq lymphoblastoid silent region 19833 [Gene]
  • LOC130001655:ATAC-STARR-seq lymphoblastoid silent region 19834 [Gene]
  • LOC130001662:ATAC-STARR-seq lymphoblastoid silent region 19835 [Gene]
  • LOC130001663:ATAC-STARR-seq lymphoblastoid silent region 19836 [Gene]
  • LOC130001664:ATAC-STARR-seq lymphoblastoid silent region 19837 [Gene]
  • LOC130001665:ATAC-STARR-seq lymphoblastoid silent region 19838 [Gene]
  • LOC130001666:ATAC-STARR-seq lymphoblastoid silent region 19839 [Gene]
  • LOC130001669:ATAC-STARR-seq lymphoblastoid silent region 19843 [Gene]
  • LOC130001672:ATAC-STARR-seq lymphoblastoid silent region 19844 [Gene]
  • LOC130001673:ATAC-STARR-seq lymphoblastoid silent region 19845 [Gene]
  • LOC130001674:ATAC-STARR-seq lymphoblastoid silent region 19847 [Gene]
  • LOC130001675:ATAC-STARR-seq lymphoblastoid silent region 19848 [Gene]
  • LOC130001676:ATAC-STARR-seq lymphoblastoid silent region 19850 [Gene]
  • LOC130001679:ATAC-STARR-seq lymphoblastoid silent region 19851 [Gene]
  • LOC130001680:ATAC-STARR-seq lymphoblastoid silent region 19852 [Gene]
  • LOC130001681:ATAC-STARR-seq lymphoblastoid silent region 19853 [Gene]
  • LOC130001684:ATAC-STARR-seq lymphoblastoid silent region 19854 [Gene]
  • LOC130001685:ATAC-STARR-seq lymphoblastoid silent region 19855 [Gene]
  • LOC130001686:ATAC-STARR-seq lymphoblastoid silent region 19856 [Gene]
  • LOC130001688:ATAC-STARR-seq lymphoblastoid silent region 19857 [Gene]
  • LOC129662434:ATAC-STARR-seq lymphoblastoid silent region 19858 [Gene]
  • LOC130001690:ATAC-STARR-seq lymphoblastoid silent region 19859 [Gene]
  • LOC130001699:ATAC-STARR-seq lymphoblastoid silent region 19860 [Gene]
  • LOC130001700:ATAC-STARR-seq lymphoblastoid silent region 19861 [Gene]
  • LOC130001701:ATAC-STARR-seq lymphoblastoid silent region 19862 [Gene]
  • LOC130001702:ATAC-STARR-seq lymphoblastoid silent region 19863 [Gene]
  • LOC130001703:ATAC-STARR-seq lymphoblastoid silent region 19864 [Gene]
  • LOC130001705:ATAC-STARR-seq lymphoblastoid silent region 19865 [Gene]
  • LOC130001707:ATAC-STARR-seq lymphoblastoid silent region 19866 [Gene]
  • LOC130001708:ATAC-STARR-seq lymphoblastoid silent region 19867 [Gene]
  • LOC130001713:ATAC-STARR-seq lymphoblastoid silent region 19870 [Gene]
  • LOC130001714:ATAC-STARR-seq lymphoblastoid silent region 19871 [Gene]
  • LOC130001716:ATAC-STARR-seq lymphoblastoid silent region 19872 [Gene]
  • LOC130001717:ATAC-STARR-seq lymphoblastoid silent region 19873 [Gene]
  • LOC130001721:ATAC-STARR-seq lymphoblastoid silent region 19874 [Gene]
  • LOC130001722:ATAC-STARR-seq lymphoblastoid silent region 19875 [Gene]
  • LOC130001725:ATAC-STARR-seq lymphoblastoid silent region 19876 [Gene]
  • LOC130001726:ATAC-STARR-seq lymphoblastoid silent region 19877 [Gene]
  • LOC130001727:ATAC-STARR-seq lymphoblastoid silent region 19878 [Gene]
  • LOC130001728:ATAC-STARR-seq lymphoblastoid silent region 19879 [Gene]
  • LOC130001729:ATAC-STARR-seq lymphoblastoid silent region 19880 [Gene]
  • LOC130001730:ATAC-STARR-seq lymphoblastoid silent region 19881 [Gene]
  • LOC130001732:ATAC-STARR-seq lymphoblastoid silent region 19882 [Gene]
  • LOC130001734:ATAC-STARR-seq lymphoblastoid silent region 19883 [Gene]
  • LOC130001739:ATAC-STARR-seq lymphoblastoid silent region 19884 [Gene]
  • LOC130001740:ATAC-STARR-seq lymphoblastoid silent region 19885 [Gene]
  • LOC130001741:ATAC-STARR-seq lymphoblastoid silent region 19886 [Gene]
  • LOC130001742:ATAC-STARR-seq lymphoblastoid silent region 19887 [Gene]
  • LOC130001744:ATAC-STARR-seq lymphoblastoid silent region 19888 [Gene]
  • LOC130001745:ATAC-STARR-seq lymphoblastoid silent region 19889 [Gene]
  • LOC130001749:ATAC-STARR-seq lymphoblastoid silent region 19891 [Gene]
  • LOC130001752:ATAC-STARR-seq lymphoblastoid silent region 19892 [Gene]
  • LOC130001753:ATAC-STARR-seq lymphoblastoid silent region 19893 [Gene]
  • LOC130001756:ATAC-STARR-seq lymphoblastoid silent region 19894 [Gene]
  • LOC130001757:ATAC-STARR-seq lymphoblastoid silent region 19895 [Gene]
  • LOC130001760:ATAC-STARR-seq lymphoblastoid silent region 19896 [Gene]
  • LOC130001762:ATAC-STARR-seq lymphoblastoid silent region 19897 [Gene]
  • LOC130001764:ATAC-STARR-seq lymphoblastoid silent region 19898 [Gene]
  • LOC130001778:ATAC-STARR-seq lymphoblastoid silent region 19899 [Gene]
  • LOC130001782:ATAC-STARR-seq lymphoblastoid silent region 19902 [Gene]
  • LOC130001795:ATAC-STARR-seq lymphoblastoid silent region 19903 [Gene]
  • LOC130001804:ATAC-STARR-seq lymphoblastoid silent region 19907 [Gene]
  • LOC130001808:ATAC-STARR-seq lymphoblastoid silent region 19908 [Gene]
  • LOC130001810:ATAC-STARR-seq lymphoblastoid silent region 19909 [Gene]
  • LOC130001812:ATAC-STARR-seq lymphoblastoid silent region 19910 [Gene]
  • LOC130001813:ATAC-STARR-seq lymphoblastoid silent region 19911 [Gene]
  • LOC130001815:ATAC-STARR-seq lymphoblastoid silent region 19913 [Gene]
  • LOC130001817:ATAC-STARR-seq lymphoblastoid silent region 19914 [Gene]
  • LOC130001822:ATAC-STARR-seq lymphoblastoid silent region 19915 [Gene]
  • LOC130001823:ATAC-STARR-seq lymphoblastoid silent region 19917 [Gene]
  • LOC130001829:ATAC-STARR-seq lymphoblastoid silent region 19918 [Gene]
  • B4GALT1-AS1:B4GALT1 antisense RNA 1 [Gene - HGNC]
  • BAG1:BAG cochaperone 1 [Gene - OMIM - HGNC]
  • LOC126860603:BRD4-independent group 4 enhancer GRCh37_chr9:29450054-29451253 [Gene]
  • LOC126860608:BRD4-independent group 4 enhancer GRCh37_chr9:31272612-31273811 [Gene]
  • LOC126860610:BRD4-independent group 4 enhancer GRCh37_chr9:32906490-32907689 [Gene]
  • LOC126860611:BRD4-independent group 4 enhancer GRCh37_chr9:32957490-32958689 [Gene]
  • LOC126860613:BRD4-independent group 4 enhancer GRCh37_chr9:33290559-33291758 [Gene]
  • LOC126860614:BRD4-independent group 4 enhancer GRCh37_chr9:33385863-33387062 [Gene]
  • LOC126860618:BRD4-independent group 4 enhancer GRCh37_chr9:35327315-35328514 [Gene]
  • LOC126860620:BRD4-independent group 4 enhancer GRCh37_chr9:35403221-35404420 [Gene]
  • LOC126860621:BRD4-independent group 4 enhancer GRCh37_chr9:35710778-35711977 [Gene]
  • CCL19:C-C motif chemokine ligand 19 [Gene - OMIM - HGNC]
  • CCL21:C-C motif chemokine ligand 21 [Gene - OMIM - HGNC]
  • CCL27:C-C motif chemokine ligand 27 [Gene - OMIM - HGNC]
  • CD72:CD72 molecule [Gene - OMIM - HGNC]
  • LOC126860602:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:29439922-29441121 [Gene]
  • LOC126860604:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:29566267-29567466 [Gene]
  • LOC126860615:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:33442744-33443943 [Gene]
  • LOC126860617:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:34254397-34255596 [Gene]
  • LOC126860619:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:35397379-35398578 [Gene]
  • LOC126860624:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:35951260-35952459 [Gene]
  • LOC126860626:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:36851359-36852558 [Gene]
  • LOC126860627:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:37477128-37478327 [Gene]
  • LOC126860628:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:38058891-38060090 [Gene]
  • LOC126860630:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:38767852-38769051 [Gene]
  • CNTFR-AS1:CNTFR antisense RNA 1 [Gene - HGNC]
  • DCAF10:DDB1 and CUL4 associated factor 10 [Gene - OMIM - HGNC]
  • DCAF12:DDB1 and CUL4 associated factor 12 [Gene - OMIM - HGNC]
  • DNAJB5-DT:DNAJB5 divergent transcript [Gene - HGNC]
  • DNAJA1:DnaJ heat shock protein family (Hsp40) member A1 [Gene - OMIM - HGNC]
  • DNAJB5:DnaJ heat shock protein family (Hsp40) member B5 [Gene - OMIM - HGNC]
  • FBXO10:F-box protein 10 [Gene - OMIM - HGNC]
  • FANCG:FA complementation group G [Gene - OMIM - HGNC]
  • FRMPD1:FERM and PDZ domain containing 1 [Gene - OMIM - HGNC]
  • LOC111365206:GATA motif-containing MPRA enhancer 90 [Gene]
  • GLIPR2:GLI pathogenesis related 2 [Gene - OMIM - HGNC]
  • LOC126860606:MED14-independent group 3 enhancer GRCh37_chr9:30961648-30962847 [Gene]
  • LOC126860607:MED14-independent group 3 enhancer GRCh37_chr9:31210546-31211745 [Gene]
  • LOC126860609:MED14-independent group 3 enhancer GRCh37_chr9:31670767-31671966 [Gene]
  • LOC126860612:MED14-independent group 3 enhancer GRCh37_chr9:33233401-33234600 [Gene]
  • LOC126860622:MED14-independent group 3 enhancer GRCh37_chr9:35752887-35754086 [Gene]
  • LOC126860625:MED14-independent group 3 enhancer GRCh37_chr9:36738402-36739601 [Gene]
  • LOC129390066:MPRA-validated peak7216 silencer [Gene]
  • LOC129390067:MPRA-validated peak7217 silencer [Gene]
  • LOC129390068:MPRA-validated peak7218 silencer [Gene]
  • LOC129390069:MPRA-validated peak7219 silencer [Gene]
  • LOC129390070:MPRA-validated peak7221 silencer [Gene]
  • LOC129390071:MPRA-validated peak7224 silencer [Gene]
  • LOC129390072:MPRA-validated peak7226 silencer [Gene]
  • LOC129390073:MPRA-validated peak7230 silencer [Gene]
  • LOC129390074:MPRA-validated peak7233 silencer [Gene]
  • LOC129390075:MPRA-validated peak7234 silencer [Gene]
  • LOC129390076:MPRA-validated peak7237 silencer [Gene]
  • LOC129390077:MPRA-validated peak7238 silencer [Gene]
  • LOC108254684:MTA1-activated intronic PAX5 enhancer [Gene]
  • NDUFB6:NADH:ubiquinone oxidoreductase subunit B6 [Gene - OMIM - HGNC]
  • LOC132089674:Neanderthal introgressed variant-containing enhancer experimental_107603 [Gene]
  • LOC132089675:Neanderthal introgressed variant-containing enhancer experimental_107631 [Gene]
  • LOC132089676:Neanderthal introgressed variant-containing enhancer experimental_107773 [Gene]
  • LOC132089677:Neanderthal introgressed variant-containing enhancer experimental_107898 [Gene]
  • LOC132089678:Neanderthal introgressed variant-containing enhancer experimental_107933 [Gene]
  • LOC132089679:Neanderthal introgressed variant-containing enhancer experimental_107948 [Gene]
  • LOC132089680:Neanderthal introgressed variant-containing enhancer experimental_107952 [Gene]
  • LOC132089681:Neanderthal introgressed variant-containing enhancer experimental_108019 [Gene]
  • LOC132089682:Neanderthal introgressed variant-containing enhancer experimental_108038 [Gene]
  • LOC126860605:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:30075054-30076253 [Gene]
  • LOC126860616:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:33458152-33459351 [Gene]
  • LOC126860623:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:35923268-35924467 [Gene]
  • LOC113839553:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:38047203-38048402 [Gene]
  • LOC126860629:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:38170544-38171743 [Gene]
  • LOC108254682:PAX5 promoter region [Gene]
  • PHF24:PHD finger protein 24 [Gene - OMIM - HGNC]
  • PIGO-AS1:PIGO antisense RNA 1 [Gene - HGNC]
  • PTENP1-AS:PTENP1 antisense RNA [Gene - HGNC]
  • RGP1:RGP1 homolog, RAB6A GEF complex partner 1 [Gene - OMIM - HGNC]
  • RMRP:RNA component of mitochondrial RNA processing endoribonuclease [Gene - OMIM - HGNC]
  • POLR1E:RNA polymerase I subunit E [Gene - HGNC]
  • RIGI:RNA sensor RIG-I [Gene - OMIM - HGNC]
  • RUSC2:RUN and SH3 domain containing 2 [Gene - OMIM - HGNC]
  • ARHGEF39:Rho guanine nucleotide exchange factor 39 [Gene - HGNC]
  • SHB:SH2 domain containing adaptor protein B [Gene - OMIM - HGNC]
  • SMU1:SMU1 DNA replication regulator and spliceosomal factor [Gene - OMIM - HGNC]
  • SPATA31F1:SPATA31 subfamily F member 1 [Gene - HGNC]
  • SPATA31F3:SPATA31 subfamily F member 3 [Gene - HGNC]
  • SPATA31G1:SPATA31 subfamily G member 1 [Gene - HGNC]
  • LOC121331327:Sharpr-MPRA regulatory region 10144 [Gene]
  • LOC124292580:Sharpr-MPRA regulatory region 1016 [Gene]
  • LOC124252629:Sharpr-MPRA regulatory region 11708 [Gene]
  • LOC124252639:Sharpr-MPRA regulatory region 11948 [Gene]
  • LOC113839548:Sharpr-MPRA regulatory region 11996 [Gene]
  • LOC124252642:Sharpr-MPRA regulatory region 13386 [Gene]
  • LOC124252631:Sharpr-MPRA regulatory region 14419 [Gene]
  • LOC124292577:Sharpr-MPRA regulatory region 15195 [Gene]
  • LOC124252628:Sharpr-MPRA regulatory region 1692 [Gene]
  • LOC124252626:Sharpr-MPRA regulatory region 1939 [Gene]
  • LOC124252633:Sharpr-MPRA regulatory region 203 [Gene]
  • LOC124252632:Sharpr-MPRA regulatory region 2201 [Gene]
  • LOC124292579:Sharpr-MPRA regulatory region 2586 [Gene]
  • LOC113839552:Sharpr-MPRA regulatory region 2787 [Gene]
  • LOC124292578:Sharpr-MPRA regulatory region 3476 [Gene]
  • LOC113839549:Sharpr-MPRA regulatory region 3537 [Gene]
  • LOC124252634:Sharpr-MPRA regulatory region 3743 [Gene]
  • LOC121811702:Sharpr-MPRA regulatory region 3987 [Gene]
  • LOC124252627:Sharpr-MPRA regulatory region 4081 [Gene]
  • LOC121331326:Sharpr-MPRA regulatory region 4136 [Gene]
  • LOC113839546:Sharpr-MPRA regulatory region 4178 [Gene]
  • LOC121811704:Sharpr-MPRA regulatory region 4537 [Gene]
  • LOC124252637:Sharpr-MPRA regulatory region 4584 [Gene]
  • LOC121811703:Sharpr-MPRA regulatory region 5008 [Gene]
  • LOC124252640:Sharpr-MPRA regulatory region 5136 [Gene]
  • LOC121331324:Sharpr-MPRA regulatory region 752 [Gene]
  • LOC121331325:Sharpr-MPRA regulatory region 8240 [Gene]
  • LOC124252636:Sharpr-MPRA regulatory region 825 [Gene]
  • LOC124252641:Sharpr-MPRA regulatory region 8282 [Gene]
  • LOC113839545:Sharpr-MPRA regulatory region 8424 [Gene]
  • LOC124252635:Sharpr-MPRA regulatory region 8490 [Gene]
  • LOC113839547:Sharpr-MPRA regulatory region 8519 [Gene]
  • LOC124252638:Sharpr-MPRA regulatory region 8540 [Gene]
  • LOC121811705:Sharpr-MPRA regulatory region 877 [Gene]
  • LOC124252630:Sharpr-MPRA regulatory region 9718 [Gene]
  • LOC114022703:Sharpr-MPRA regulatory regions 5304 and 15183 [Gene]
  • TAF1L:TATA-box binding protein associated factor 1 like [Gene - OMIM - HGNC]
  • TOPORS:TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • UBE2R2-AS1:UBE2R2 antisense RNA 1 [Gene - HGNC]
  • LOC110121090:VISTA enhancer hs1390 [Gene]
  • LOC110121248:VISTA enhancer hs2062 [Gene]
  • LOC110120798:VISTA enhancer hs901 [Gene]
  • LOC108169209:ZCCHC7 intron homotypic cluster of transcription factor binding sites enhancer [Gene]
  • ACO1:aconitase 1 [Gene - OMIM - HGNC]
  • ALDH1B1:aldehyde dehydrogenase 1 family member B1 [Gene - OMIM - HGNC]
  • ANKRD18A:ankyrin repeat domain 18A [Gene - OMIM - HGNC]
  • ANKRD18B:ankyrin repeat domain 18B [Gene - OMIM - HGNC]
  • APTX:aprataxin [Gene - OMIM - HGNC]
  • AQP3:aquaporin 3 (Gill blood group) [Gene - OMIM - HGNC]
  • AQP7:aquaporin 7 [Gene - OMIM - HGNC]
  • ATOSB:atos homolog B [Gene - OMIM - HGNC]
  • B4GALT1:beta-1,4-galactosyltransferase 1 [Gene - OMIM - HGNC]
  • CREB3:cAMP responsive element binding protein 3 [Gene - OMIM - HGNC]
  • CCIN:calicin [Gene - OMIM - HGNC]
  • CA9:carbonic anhydrase 9 [Gene - OMIM - HGNC]
  • CHMP5:charged multivesicular body protein 5 [Gene - OMIM - HGNC]
  • CIMIP2B:ciliary microtubule inner protein 2B [Gene - HGNC]
  • CNTFR:ciliary neurotrophic factor receptor [Gene - OMIM - HGNC]
  • CLTA:clathrin light chain A [Gene - OMIM - HGNC]
  • CCDC107:coiled-coil domain containing 107 [Gene - HGNC]
  • DCTN3:dynactin subunit 3 [Gene - OMIM - HGNC]
  • DNAI1:dynein axonemal intermediate chain 1 [Gene - OMIM - HGNC]
  • ENHO:energy homeostasis associated [Gene - OMIM - HGNC]
  • EXOSC3:exosome component 3 [Gene - OMIM - HGNC]
  • FAM201A:family with sequence similarity 201 member A [Gene - HGNC]
  • FAM219A:family with sequence similarity 219 member A [Gene - HGNC]
  • FAM221B:family with sequence similarity 221 member B [Gene - HGNC]
  • FAM240B:family with sequence similarity 240 member B [Gene - HGNC]
  • FAM95C:family with sequence similarity 95 member C [Gene - HGNC]
  • GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
  • GNE:glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [Gene - OMIM - HGNC]
  • GBA2:glucosylceramidase beta 2 [Gene - OMIM - HGNC]
  • GRHPR:glyoxylate and hydroxypyruvate reductase [Gene - OMIM - HGNC]
  • HRCT1:histidine rich carboxyl terminus 1 [Gene - HGNC]
  • HINT2:histidine triad nucleotide binding protein 2 [Gene - OMIM - HGNC]
  • IGFBPL1:insulin like growth factor binding protein like 1 [Gene - OMIM - HGNC]
  • IL11RA:interleukin 11 receptor subunit alpha [Gene - OMIM - HGNC]
  • KIF24:kinesin family member 24 [Gene - OMIM - HGNC]
  • LINGO2:leucine rich repeat and Ig domain containing 2 [Gene - OMIM - HGNC]
  • LINC01242:long intergenic non-protein coding RNA 1242 [Gene - HGNC]
  • LINC01243:long intergenic non-protein coding RNA 1243 [Gene - HGNC]
  • LINC01627:long intergenic non-protein coding RNA 1627 [Gene - HGNC]
  • MELK:maternal embryonic leucine zipper kinase [Gene - OMIM - HGNC]
  • MIR12117:microRNA 12117 [Gene - HGNC]
  • MIR4475:microRNA 4475 [Gene - HGNC]
  • MIR4476:microRNA 4476 [Gene - HGNC]
  • MIR4540:microRNA 4540 [Gene - HGNC]
  • MIR4667:microRNA 4667 [Gene - HGNC]
  • MIR6851:microRNA 6851 [Gene - HGNC]
  • MIR6852:microRNA 6852 [Gene - HGNC]
  • MIR6853:microRNA 6853 [Gene - HGNC]
  • MSMP:microseminoprotein, prostate associated [Gene - OMIM - HGNC]
  • MYORG:myogenesis regulating glycosidase [Gene - OMIM - HGNC]
  • NPR2:natriuretic peptide receptor 2 [Gene - OMIM - HGNC]
  • NFX1:nuclear transcription factor, X-box binding 1 [Gene - OMIM - HGNC]
  • NOL6:nucleolar protein 6 [Gene - OMIM - HGNC]
  • NUDT2:nudix hydrolase 2 [Gene - OMIM - HGNC]
  • OR13J1:olfactory receptor family 13 subfamily J member 1 [Gene - HGNC]
  • OR2S2:olfactory receptor family 2 subfamily S member 2 [Gene - HGNC]
  • PAX5:paired box 5 [Gene - OMIM - HGNC]
  • PIGO:phosphatidylinositol glycan anchor biosynthesis class O [Gene - OMIM - HGNC]
  • RECK:reversion inducing cysteine rich protein with kazal motifs [Gene - OMIM - HGNC]
  • RPP25L:ribonuclease P/MRP subunit p25 like [Gene - HGNC]
  • RNF38:ring finger protein 38 [Gene - OMIM - HGNC]
  • SPINK4:serine peptidase inhibitor Kazal type 4 [Gene - OMIM - HGNC]
  • PRSS3:serine protease 3 [Gene - OMIM - HGNC]
  • SIGMAR1:sigma non-opioid intracellular receptor 1 [Gene - OMIM - HGNC]
  • SIT1:signaling threshold regulating transmembrane adaptor 1 [Gene - OMIM - HGNC]
  • LOC111721710:skeletal muscle cis-regulatory module in TPM2 intron [Gene]
  • SMIM27:small integral membrane protein 27 [Gene - HGNC]
  • SNORD121A:small nucleolar RNA, C/D box 121A [Gene - HGNC]
  • SNORD121B:small nucleolar RNA, C/D box 121B [Gene - HGNC]
  • SPAAR:small regulatory polypeptide of amino acid response [Gene - OMIM - HGNC]
  • SLC25A51:solute carrier family 25 member 51 [Gene - OMIM - HGNC]
  • SPAG8:sperm associated antigen 8 [Gene - OMIM - HGNC]
  • SPMIP6:sperm microtubule inner protein 6 [Gene - OMIM - HGNC]
  • STOML2:stomatin like 2 [Gene - OMIM - HGNC]
  • TRMT10B:tRNA methyltransferase 10B [Gene - OMIM - HGNC]
  • TLN1:talin 1 [Gene - OMIM - HGNC]
  • TESK1:testis associated actin remodelling kinase 1 [Gene - OMIM - HGNC]
  • TOMM5:translocase of outer mitochondrial membrane 5 [Gene - OMIM - HGNC]
  • TMEM215:transmembrane protein 215 [Gene - HGNC]
  • TMEM8B:transmembrane protein 8B [Gene - OMIM - HGNC]
  • TPM2:tropomyosin 2 [Gene - OMIM - HGNC]
  • UBAP1:ubiquitin associated protein 1 [Gene - OMIM - HGNC]
  • UBAP2:ubiquitin associated protein 2 [Gene - HGNC]
  • UBE2R2:ubiquitin conjugating enzyme E2 R2 [Gene - OMIM - HGNC]
  • UNC13B:unc-13 homolog B [Gene - OMIM - HGNC]
  • LOC101060445:uncharacterized LOC101060445 [Gene]
  • LOC101926948:uncharacterized LOC101926948 [Gene]
  • LOC105376010:uncharacterized LOC105376010 [Gene]
  • LOC105376020:uncharacterized LOC105376020 [Gene]
  • LOC105376032:uncharacterized LOC105376032 [Gene]
  • LOC105376034:uncharacterized LOC105376034 [Gene]
  • LOC730098:uncharacterized LOC730098 [Gene]
  • VCP:valosin containing protein [Gene - OMIM - HGNC]
  • ZCCHC7:zinc finger CCHC-type containing 7 [Gene - HGNC]
  • ZBTB5:zinc finger and BTB domain containing 5 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
9p21.1-13.1
Genomic location:
Preferred name:
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3
HGVS:
  • NC_000009.12:g.(?_28975663)_(38787483_?)dup
  • NC_000009.11:g.(?_28975661)_(38787480_?)dup
Links:
dbVar: nssv3395409; dbVar: nsv996215
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
SCV000183645ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Mar 18, 2014) 		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, SCV000183645.4

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

Last Updated: Oct 13, 2024