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GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)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:
RCV000142295.7

Allele description [Variation Report for GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3]

GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3

Genes:
  • LOC129995519:ATAC-STARR-seq lymphoblastoid active region 23798 [Gene]
  • LOC129995520:ATAC-STARR-seq lymphoblastoid active region 23799 [Gene]
  • LOC129995521:ATAC-STARR-seq lymphoblastoid active region 23800 [Gene]
  • LOC129995522:ATAC-STARR-seq lymphoblastoid active region 23801 [Gene]
  • LOC129995523:ATAC-STARR-seq lymphoblastoid active region 23802 [Gene]
  • LOC129995524:ATAC-STARR-seq lymphoblastoid active region 23803 [Gene]
  • LOC129995525:ATAC-STARR-seq lymphoblastoid active region 23804 [Gene]
  • LOC129995526:ATAC-STARR-seq lymphoblastoid active region 23805 [Gene]
  • LOC129995527:ATAC-STARR-seq lymphoblastoid active region 23806 [Gene]
  • LOC129995528:ATAC-STARR-seq lymphoblastoid active region 23807 [Gene]
  • LOC129995529:ATAC-STARR-seq lymphoblastoid active region 23808 [Gene]
  • LOC129995530:ATAC-STARR-seq lymphoblastoid active region 23809 [Gene]
  • LOC129995531:ATAC-STARR-seq lymphoblastoid active region 23810 [Gene]
  • LOC129995532:ATAC-STARR-seq lymphoblastoid active region 23811 [Gene]
  • LOC129995533:ATAC-STARR-seq lymphoblastoid active region 23812 [Gene]
  • LOC129995534:ATAC-STARR-seq lymphoblastoid active region 23813 [Gene]
  • LOC129995535:ATAC-STARR-seq lymphoblastoid active region 23814 [Gene]
  • LOC129995536:ATAC-STARR-seq lymphoblastoid active region 23815 [Gene]
  • LOC129995537:ATAC-STARR-seq lymphoblastoid active region 23816 [Gene]
  • LOC129995538:ATAC-STARR-seq lymphoblastoid active region 23818 [Gene]
  • LOC129995539:ATAC-STARR-seq lymphoblastoid active region 23819 [Gene]
  • LOC129995540:ATAC-STARR-seq lymphoblastoid active region 23820 [Gene]
  • LOC129995541:ATAC-STARR-seq lymphoblastoid active region 23821 [Gene]
  • LOC129995542:ATAC-STARR-seq lymphoblastoid active region 23822 [Gene]
  • LOC129995545:ATAC-STARR-seq lymphoblastoid active region 23823 [Gene]
  • LOC129995546:ATAC-STARR-seq lymphoblastoid active region 23824 [Gene]
  • LOC129995547:ATAC-STARR-seq lymphoblastoid active region 23825 [Gene]
  • LOC129995548:ATAC-STARR-seq lymphoblastoid active region 23826 [Gene]
  • LOC129995549:ATAC-STARR-seq lymphoblastoid active region 23827 [Gene]
  • LOC129995550:ATAC-STARR-seq lymphoblastoid active region 23828 [Gene]
  • LOC129995551:ATAC-STARR-seq lymphoblastoid active region 23829 [Gene]
  • LOC129995552:ATAC-STARR-seq lymphoblastoid active region 23830 [Gene]
  • LOC129995553:ATAC-STARR-seq lymphoblastoid active region 23831 [Gene]
  • LOC129995554:ATAC-STARR-seq lymphoblastoid active region 23832 [Gene]
  • LOC129995556:ATAC-STARR-seq lymphoblastoid active region 23833 [Gene]
  • LOC129995557:ATAC-STARR-seq lymphoblastoid active region 23834 [Gene]
  • LOC129995558:ATAC-STARR-seq lymphoblastoid active region 23835 [Gene]
  • LOC129995559:ATAC-STARR-seq lymphoblastoid active region 23836 [Gene]
  • LOC129995560:ATAC-STARR-seq lymphoblastoid active region 23837 [Gene]
  • LOC129995561:ATAC-STARR-seq lymphoblastoid active region 23838 [Gene]
  • LOC129995562:ATAC-STARR-seq lymphoblastoid active region 23839 [Gene]
  • LOC129995563:ATAC-STARR-seq lymphoblastoid active region 23841 [Gene]
  • LOC129995572:ATAC-STARR-seq lymphoblastoid active region 23842 [Gene]
  • LOC129995573:ATAC-STARR-seq lymphoblastoid active region 23843 [Gene]
  • LOC129995574:ATAC-STARR-seq lymphoblastoid active region 23844 [Gene]
  • LOC129995575:ATAC-STARR-seq lymphoblastoid active region 23845 [Gene]
  • LOC129995576:ATAC-STARR-seq lymphoblastoid active region 23846 [Gene]
  • LOC129995577:ATAC-STARR-seq lymphoblastoid active region 23847 [Gene]
  • LOC129995578:ATAC-STARR-seq lymphoblastoid active region 23848 [Gene]
  • LOC129995579:ATAC-STARR-seq lymphoblastoid active region 23849 [Gene]
  • LOC129995580:ATAC-STARR-seq lymphoblastoid active region 23850 [Gene]
  • LOC129995581:ATAC-STARR-seq lymphoblastoid active region 23851 [Gene]
  • LOC129995582:ATAC-STARR-seq lymphoblastoid active region 23852 [Gene]
  • LOC129995584:ATAC-STARR-seq lymphoblastoid active region 23854 [Gene]
  • LOC129995585:ATAC-STARR-seq lymphoblastoid active region 23855 [Gene]
  • LOC129995587:ATAC-STARR-seq lymphoblastoid active region 23856 [Gene]
  • LOC129995588:ATAC-STARR-seq lymphoblastoid active region 23857 [Gene]
  • LOC129995589:ATAC-STARR-seq lymphoblastoid active region 23858 [Gene]
  • LOC129995591:ATAC-STARR-seq lymphoblastoid active region 23859 [Gene]
  • LOC129995592:ATAC-STARR-seq lymphoblastoid active region 23860 [Gene]
  • LOC129995593:ATAC-STARR-seq lymphoblastoid active region 23861 [Gene]
  • LOC129995594:ATAC-STARR-seq lymphoblastoid active region 23862 [Gene]
  • LOC129995601:ATAC-STARR-seq lymphoblastoid active region 23864 [Gene]
  • LOC129995602:ATAC-STARR-seq lymphoblastoid active region 23865 [Gene]
  • LOC129995603:ATAC-STARR-seq lymphoblastoid active region 23866 [Gene]
  • LOC129995604:ATAC-STARR-seq lymphoblastoid active region 23867 [Gene]
  • LOC129995605:ATAC-STARR-seq lymphoblastoid active region 23868 [Gene]
  • LOC129995606:ATAC-STARR-seq lymphoblastoid active region 23869 [Gene]
  • LOC129995607:ATAC-STARR-seq lymphoblastoid active region 23870 [Gene]
  • LOC129995609:ATAC-STARR-seq lymphoblastoid active region 23871 [Gene]
  • LOC129995611:ATAC-STARR-seq lymphoblastoid active region 23872 [Gene]
  • LOC129995615:ATAC-STARR-seq lymphoblastoid active region 23873 [Gene]
  • LOC129995616:ATAC-STARR-seq lymphoblastoid active region 23874 [Gene]
  • LOC129995617:ATAC-STARR-seq lymphoblastoid active region 23875 [Gene]
  • LOC129995618:ATAC-STARR-seq lymphoblastoid active region 23876 [Gene]
  • LOC129995619:ATAC-STARR-seq lymphoblastoid active region 23877 [Gene]
  • LOC129995620:ATAC-STARR-seq lymphoblastoid active region 23878 [Gene]
  • LOC129995621:ATAC-STARR-seq lymphoblastoid active region 23879 [Gene]
  • LOC129995626:ATAC-STARR-seq lymphoblastoid active region 23881 [Gene]
  • LOC129995627:ATAC-STARR-seq lymphoblastoid active region 23882 [Gene]
  • LOC129995634:ATAC-STARR-seq lymphoblastoid active region 23883 [Gene]
  • LOC129995636:ATAC-STARR-seq lymphoblastoid active region 23884 [Gene]
  • LOC129995637:ATAC-STARR-seq lymphoblastoid active region 23886 [Gene]
  • LOC129995641:ATAC-STARR-seq lymphoblastoid active region 23887 [Gene]
  • LOC129995642:ATAC-STARR-seq lymphoblastoid active region 23888 [Gene]
  • LOC129995643:ATAC-STARR-seq lymphoblastoid active region 23890 [Gene]
  • LOC129995644:ATAC-STARR-seq lymphoblastoid active region 23891 [Gene]
  • LOC129995645:ATAC-STARR-seq lymphoblastoid active region 23892 [Gene]
  • LOC129995652:ATAC-STARR-seq lymphoblastoid active region 23893 [Gene]
  • LOC129995653:ATAC-STARR-seq lymphoblastoid active region 23894 [Gene]
  • LOC129995654:ATAC-STARR-seq lymphoblastoid active region 23895 [Gene]
  • LOC129995655:ATAC-STARR-seq lymphoblastoid active region 23896 [Gene]
  • LOC129995659:ATAC-STARR-seq lymphoblastoid active region 23897 [Gene]
  • LOC129995660:ATAC-STARR-seq lymphoblastoid active region 23898 [Gene]
  • LOC129995664:ATAC-STARR-seq lymphoblastoid active region 23899 [Gene]
  • LOC129995665:ATAC-STARR-seq lymphoblastoid active region 23900 [Gene]
  • LOC129995670:ATAC-STARR-seq lymphoblastoid active region 23901 [Gene]
  • LOC129995671:ATAC-STARR-seq lymphoblastoid active region 23902 [Gene]
  • LOC129995675:ATAC-STARR-seq lymphoblastoid active region 23903 [Gene]
  • LOC129995677:ATAC-STARR-seq lymphoblastoid active region 23904 [Gene]
  • LOC129995678:ATAC-STARR-seq lymphoblastoid active region 23906 [Gene]
  • LOC129995679:ATAC-STARR-seq lymphoblastoid active region 23907 [Gene]
  • LOC129995680:ATAC-STARR-seq lymphoblastoid active region 23908 [Gene]
  • LOC129995681:ATAC-STARR-seq lymphoblastoid active region 23910 [Gene]
  • LOC129995682:ATAC-STARR-seq lymphoblastoid active region 23911 [Gene]
  • LOC129995683:ATAC-STARR-seq lymphoblastoid active region 23912 [Gene]
  • LOC129995684:ATAC-STARR-seq lymphoblastoid active region 23913 [Gene]
  • LOC129995685:ATAC-STARR-seq lymphoblastoid active region 23914 [Gene]
  • LOC129995688:ATAC-STARR-seq lymphoblastoid active region 23915 [Gene]
  • LOC129995689:ATAC-STARR-seq lymphoblastoid active region 23916 [Gene]
  • LOC129995690:ATAC-STARR-seq lymphoblastoid active region 23917 [Gene]
  • LOC129995691:ATAC-STARR-seq lymphoblastoid active region 23918 [Gene]
  • LOC129995692:ATAC-STARR-seq lymphoblastoid active region 23919 [Gene]
  • LOC129995693:ATAC-STARR-seq lymphoblastoid active region 23920 [Gene]
  • LOC129995694:ATAC-STARR-seq lymphoblastoid active region 23921 [Gene]
  • LOC129995695:ATAC-STARR-seq lymphoblastoid active region 23922 [Gene]
  • LOC129995696:ATAC-STARR-seq lymphoblastoid active region 23923 [Gene]
  • LOC129995697:ATAC-STARR-seq lymphoblastoid active region 23924 [Gene]
  • LOC129995698:ATAC-STARR-seq lymphoblastoid active region 23925 [Gene]
  • LOC129995699:ATAC-STARR-seq lymphoblastoid active region 23927 [Gene]
  • LOC129995700:ATAC-STARR-seq lymphoblastoid active region 23932 [Gene]
  • LOC129995702:ATAC-STARR-seq lymphoblastoid active region 23933 [Gene]
  • LOC129995703:ATAC-STARR-seq lymphoblastoid active region 23934 [Gene]
  • LOC129995705:ATAC-STARR-seq lymphoblastoid active region 23935 [Gene]
  • LOC129995710:ATAC-STARR-seq lymphoblastoid active region 23936 [Gene]
  • LOC129995712:ATAC-STARR-seq lymphoblastoid active region 23937 [Gene]
  • LOC129995713:ATAC-STARR-seq lymphoblastoid active region 23938 [Gene]
  • LOC129995714:ATAC-STARR-seq lymphoblastoid active region 23939 [Gene]
  • LOC129995715:ATAC-STARR-seq lymphoblastoid active region 23940 [Gene]
  • LOC129995716:ATAC-STARR-seq lymphoblastoid active region 23941 [Gene]
  • LOC129995717:ATAC-STARR-seq lymphoblastoid active region 23942 [Gene]
  • LOC129995719:ATAC-STARR-seq lymphoblastoid active region 23947 [Gene]
  • LOC129995720:ATAC-STARR-seq lymphoblastoid active region 23948 [Gene]
  • LOC129995721:ATAC-STARR-seq lymphoblastoid active region 23951 [Gene]
  • LOC129995725:ATAC-STARR-seq lymphoblastoid active region 23952 [Gene]
  • LOC129995726:ATAC-STARR-seq lymphoblastoid active region 23953 [Gene]
  • LOC129995727:ATAC-STARR-seq lymphoblastoid active region 23954 [Gene]
  • LOC129995729:ATAC-STARR-seq lymphoblastoid active region 23956 [Gene]
  • LOC129995730:ATAC-STARR-seq lymphoblastoid active region 23957 [Gene]
  • LOC129995733:ATAC-STARR-seq lymphoblastoid active region 23958 [Gene]
  • LOC129995734:ATAC-STARR-seq lymphoblastoid active region 23962 [Gene]
  • LOC129995735:ATAC-STARR-seq lymphoblastoid active region 23963 [Gene]
  • LOC129995736:ATAC-STARR-seq lymphoblastoid active region 23964 [Gene]
  • LOC129995737:ATAC-STARR-seq lymphoblastoid active region 23965 [Gene]
  • LOC129995741:ATAC-STARR-seq lymphoblastoid active region 23967 [Gene]
  • LOC129995742:ATAC-STARR-seq lymphoblastoid active region 23968 [Gene]
  • LOC129995743:ATAC-STARR-seq lymphoblastoid active region 23969 [Gene]
  • LOC129995744:ATAC-STARR-seq lymphoblastoid active region 23970 [Gene]
  • LOC129995747:ATAC-STARR-seq lymphoblastoid active region 23972 [Gene]
  • LOC129995749:ATAC-STARR-seq lymphoblastoid active region 23973 [Gene]
  • LOC129995750:ATAC-STARR-seq lymphoblastoid active region 23974 [Gene]
  • LOC129995753:ATAC-STARR-seq lymphoblastoid active region 23978 [Gene]
  • LOC129995754:ATAC-STARR-seq lymphoblastoid active region 23979 [Gene]
  • LOC129995757:ATAC-STARR-seq lymphoblastoid active region 23980 [Gene]
  • LOC129995758:ATAC-STARR-seq lymphoblastoid active region 23982 [Gene]
  • LOC129995759:ATAC-STARR-seq lymphoblastoid active region 23983 [Gene]
  • LOC129995760:ATAC-STARR-seq lymphoblastoid active region 23984 [Gene]
  • LOC129995761:ATAC-STARR-seq lymphoblastoid active region 23985 [Gene]
  • LOC129995762:ATAC-STARR-seq lymphoblastoid active region 23986 [Gene]
  • LOC129995763:ATAC-STARR-seq lymphoblastoid active region 23987 [Gene]
  • LOC129995764:ATAC-STARR-seq lymphoblastoid active region 23988 [Gene]
  • LOC129995765:ATAC-STARR-seq lymphoblastoid active region 23989 [Gene]
  • LOC129995543:ATAC-STARR-seq lymphoblastoid silent region 16803 [Gene]
  • LOC129995544:ATAC-STARR-seq lymphoblastoid silent region 16804 [Gene]
  • LOC129995555:ATAC-STARR-seq lymphoblastoid silent region 16805 [Gene]
  • LOC129995564:ATAC-STARR-seq lymphoblastoid silent region 16806 [Gene]
  • LOC129995565:ATAC-STARR-seq lymphoblastoid silent region 16807 [Gene]
  • LOC129995566:ATAC-STARR-seq lymphoblastoid silent region 16808 [Gene]
  • LOC129995567:ATAC-STARR-seq lymphoblastoid silent region 16809 [Gene]
  • LOC129995568:ATAC-STARR-seq lymphoblastoid silent region 16810 [Gene]
  • LOC129995569:ATAC-STARR-seq lymphoblastoid silent region 16811 [Gene]
  • LOC129995570:ATAC-STARR-seq lymphoblastoid silent region 16812 [Gene]
  • LOC129995571:ATAC-STARR-seq lymphoblastoid silent region 16813 [Gene]
  • LOC129995583:ATAC-STARR-seq lymphoblastoid silent region 16814 [Gene]
  • LOC129995586:ATAC-STARR-seq lymphoblastoid silent region 16815 [Gene]
  • LOC129995590:ATAC-STARR-seq lymphoblastoid silent region 16818 [Gene]
  • LOC129995595:ATAC-STARR-seq lymphoblastoid silent region 16819 [Gene]
  • LOC129995596:ATAC-STARR-seq lymphoblastoid silent region 16820 [Gene]
  • LOC129995598:ATAC-STARR-seq lymphoblastoid silent region 16822 [Gene]
  • LOC129995599:ATAC-STARR-seq lymphoblastoid silent region 16823 [Gene]
  • LOC129995600:ATAC-STARR-seq lymphoblastoid silent region 16824 [Gene]
  • LOC129995608:ATAC-STARR-seq lymphoblastoid silent region 16825 [Gene]
  • LOC129995610:ATAC-STARR-seq lymphoblastoid silent region 16827 [Gene]
  • LOC129995612:ATAC-STARR-seq lymphoblastoid silent region 16830 [Gene]
  • LOC129995613:ATAC-STARR-seq lymphoblastoid silent region 16831 [Gene]
  • LOC129995614:ATAC-STARR-seq lymphoblastoid silent region 16832 [Gene]
  • LOC129995622:ATAC-STARR-seq lymphoblastoid silent region 16834 [Gene]
  • LOC129995623:ATAC-STARR-seq lymphoblastoid silent region 16836 [Gene]
  • LOC129995624:ATAC-STARR-seq lymphoblastoid silent region 16837 [Gene]
  • LOC129995625:ATAC-STARR-seq lymphoblastoid silent region 16839 [Gene]
  • LOC129995628:ATAC-STARR-seq lymphoblastoid silent region 16840 [Gene]
  • LOC129995629:ATAC-STARR-seq lymphoblastoid silent region 16841 [Gene]
  • LOC129995630:ATAC-STARR-seq lymphoblastoid silent region 16842 [Gene]
  • LOC129995631:ATAC-STARR-seq lymphoblastoid silent region 16843 [Gene]
  • LOC129995632:ATAC-STARR-seq lymphoblastoid silent region 16844 [Gene]
  • LOC129995633:ATAC-STARR-seq lymphoblastoid silent region 16845 [Gene]
  • LOC129995635:ATAC-STARR-seq lymphoblastoid silent region 16846 [Gene]
  • LOC129995638:ATAC-STARR-seq lymphoblastoid silent region 16850 [Gene]
  • LOC129995639:ATAC-STARR-seq lymphoblastoid silent region 16851 [Gene]
  • LOC129995640:ATAC-STARR-seq lymphoblastoid silent region 16852 [Gene]
  • LOC129995646:ATAC-STARR-seq lymphoblastoid silent region 16853 [Gene]
  • LOC129995647:ATAC-STARR-seq lymphoblastoid silent region 16854 [Gene]
  • LOC129995648:ATAC-STARR-seq lymphoblastoid silent region 16855 [Gene]
  • LOC129995649:ATAC-STARR-seq lymphoblastoid silent region 16856 [Gene]
  • LOC129995650:ATAC-STARR-seq lymphoblastoid silent region 16857 [Gene]
  • LOC129995651:ATAC-STARR-seq lymphoblastoid silent region 16858 [Gene]
  • LOC129995656:ATAC-STARR-seq lymphoblastoid silent region 16859 [Gene]
  • LOC129995657:ATAC-STARR-seq lymphoblastoid silent region 16860 [Gene]
  • LOC129995658:ATAC-STARR-seq lymphoblastoid silent region 16862 [Gene]
  • LOC129995661:ATAC-STARR-seq lymphoblastoid silent region 16863 [Gene]
  • LOC129995662:ATAC-STARR-seq lymphoblastoid silent region 16864 [Gene]
  • LOC129995663:ATAC-STARR-seq lymphoblastoid silent region 16865 [Gene]
  • LOC129995666:ATAC-STARR-seq lymphoblastoid silent region 16866 [Gene]
  • LOC129995667:ATAC-STARR-seq lymphoblastoid silent region 16867 [Gene]
  • LOC129995668:ATAC-STARR-seq lymphoblastoid silent region 16868 [Gene]
  • LOC129995669:ATAC-STARR-seq lymphoblastoid silent region 16869 [Gene]
  • LOC129995672:ATAC-STARR-seq lymphoblastoid silent region 16873 [Gene]
  • LOC129995673:ATAC-STARR-seq lymphoblastoid silent region 16874 [Gene]
  • LOC129995674:ATAC-STARR-seq lymphoblastoid silent region 16875 [Gene]
  • LOC129995676:ATAC-STARR-seq lymphoblastoid silent region 16876 [Gene]
  • LOC129995686:ATAC-STARR-seq lymphoblastoid silent region 16877 [Gene]
  • LOC129995687:ATAC-STARR-seq lymphoblastoid silent region 16878 [Gene]
  • LOC129995701:ATAC-STARR-seq lymphoblastoid silent region 16880 [Gene]
  • LOC129995704:ATAC-STARR-seq lymphoblastoid silent region 16881 [Gene]
  • LOC129995706:ATAC-STARR-seq lymphoblastoid silent region 16882 [Gene]
  • LOC129995707:ATAC-STARR-seq lymphoblastoid silent region 16883 [Gene]
  • LOC129995708:ATAC-STARR-seq lymphoblastoid silent region 16884 [Gene]
  • LOC129995709:ATAC-STARR-seq lymphoblastoid silent region 16885 [Gene]
  • LOC129995711:ATAC-STARR-seq lymphoblastoid silent region 16886 [Gene]
  • LOC129995718:ATAC-STARR-seq lymphoblastoid silent region 16890 [Gene]
  • LOC129995722:ATAC-STARR-seq lymphoblastoid silent region 16891 [Gene]
  • LOC129995723:ATAC-STARR-seq lymphoblastoid silent region 16892 [Gene]
  • LOC129995724:ATAC-STARR-seq lymphoblastoid silent region 16893 [Gene]
  • LOC129995728:ATAC-STARR-seq lymphoblastoid silent region 16894 [Gene]
  • LOC129995731:ATAC-STARR-seq lymphoblastoid silent region 16895 [Gene]
  • LOC129995732:ATAC-STARR-seq lymphoblastoid silent region 16896 [Gene]
  • LOC129995738:ATAC-STARR-seq lymphoblastoid silent region 16898 [Gene]
  • LOC129995739:ATAC-STARR-seq lymphoblastoid silent region 16900 [Gene]
  • LOC129995740:ATAC-STARR-seq lymphoblastoid silent region 16901 [Gene]
  • LOC129995745:ATAC-STARR-seq lymphoblastoid silent region 16902 [Gene]
  • LOC129995746:ATAC-STARR-seq lymphoblastoid silent region 16903 [Gene]
  • LOC129995748:ATAC-STARR-seq lymphoblastoid silent region 16907 [Gene]
  • LOC129995751:ATAC-STARR-seq lymphoblastoid silent region 16908 [Gene]
  • LOC129995752:ATAC-STARR-seq lymphoblastoid silent region 16910 [Gene]
  • LOC129995755:ATAC-STARR-seq lymphoblastoid silent region 16911 [Gene]
  • LOC129995756:ATAC-STARR-seq lymphoblastoid silent region 16912 [Gene]
  • LOC129995766:ATAC-STARR-seq lymphoblastoid silent region 16913 [Gene]
  • BLOC1S5-TXNDC5:BLOC1S5-TXNDC5 readthrough (NMD candidate) [Gene - HGNC]
  • LOC121740638:BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476 [Gene]
  • LOC126859551:BRD4-independent group 4 enhancer GRCh37_chr6:1100679-1101878 [Gene]
  • LOC126859554:BRD4-independent group 4 enhancer GRCh37_chr6:2434059-2435258 [Gene]
  • LOC126859546:BRD4-independent group 4 enhancer GRCh37_chr6:329543-330742 [Gene]
  • LOC126859558:BRD4-independent group 4 enhancer GRCh37_chr6:3899874-3901073 [Gene]
  • LOC126859560:BRD4-independent group 4 enhancer GRCh37_chr6:4466860-4468059 [Gene]
  • LOC126859563:BRD4-independent group 4 enhancer GRCh37_chr6:5044856-5046055 [Gene]
  • LOC126859567:BRD4-independent group 4 enhancer GRCh37_chr6:5581546-5582745 [Gene]
  • LOC126859568:BRD4-independent group 4 enhancer GRCh37_chr6:5665450-5666649 [Gene]
  • LOC126859575:BRD4-independent group 4 enhancer GRCh37_chr6:6856889-6858088 [Gene]
  • LOC126859577:BRD4-independent group 4 enhancer GRCh37_chr6:7763783-7764982 [Gene]
  • LOC126859584:BRD4-independent group 4 enhancer GRCh37_chr6:9648237-9649436 [Gene]
  • LOC126859550:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:1066368-1067567 [Gene]
  • LOC126859587:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:11185257-11186456 [Gene]
  • LOC126859552:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:1286792-1287991 [Gene]
  • LOC126859557:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:3324264-3325463 [Gene]
  • LOC126859565:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:5368745-5369944 [Gene]
  • LOC126859547:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:563721-564920 [Gene]
  • LOC126859570:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:5998084-5999283 [Gene]
  • LOC126859571:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:6218631-6219830 [Gene]
  • LOC126859572:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:6361855-6363054 [Gene]
  • LOC126859580:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:8387849-8389048 [Gene]
  • LOC126859549:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:862355-863554 [Gene]
  • CDYL-AS1:CDYL antisense RNA 1 [Gene - HGNC]
  • LOC116158537:CRISPRi-validated cis-regulatory element chr6.177 [Gene]
  • LOC116158538:CRISPRi-validated cis-regulatory element chr6.179 [Gene]
  • LOC116158539:CRISPRi-validated cis-regulatory element chr6.285 [Gene]
  • DSP-AS1:DSP antisense RNA 1 [Gene - HGNC]
  • ECI2-DT:ECI2 divergent transcript [Gene - HGNC]
  • EEF1E1-BLOC1S5:EEF1E1-BLOC1S5 readthrough (NMD candidate) [Gene - HGNC]
  • ELOVL2:ELOVL fatty acid elongase 2 [Gene - OMIM - HGNC]
  • ELOVL2-AS1:ELOVL2 antisense RNA 1 [Gene - HGNC]
  • FARS2-AS1:FARS2 antisense RNA 1 [Gene - HGNC]
  • FOXCUT:FOXC1 upstream transcript [Gene - OMIM - HGNC]
  • FOXF2-DT:FOXF2 divergent transcript [Gene - HGNC]
  • GMDS:GDP-mannose 4,6-dehydratase [Gene - OMIM - HGNC]
  • GMDS-DT:GMDS divergent transcript [Gene - HGNC]
  • LOC111429615:HNF4 motif-containing MPRA enhancer 213 [Gene]
  • HUS1B:HUS1 checkpoint clamp component B [Gene - OMIM - HGNC]
  • LY86-AS1:LY86 antisense RNA 1 [Gene - HGNC]
  • LYRM4:LYR motif containing 4 [Gene - OMIM - HGNC]
  • LYRM4-AS1:LYRM4 antisense RNA 1 [Gene - HGNC]
  • LOC126859585:MED14-independent group 3 enhancer GRCh37_chr6:10347421-10348620 [Gene]
  • LOC126859586:MED14-independent group 3 enhancer GRCh37_chr6:10433906-10435105 [Gene]
  • LOC126859556:MED14-independent group 3 enhancer GRCh37_chr6:3023471-3024670 [Gene]
  • LOC126859559:MED14-independent group 3 enhancer GRCh37_chr6:4383813-4385012 [Gene]
  • LOC126859548:MED14-independent group 3 enhancer GRCh37_chr6:582671-583870 [Gene]
  • LOC126859569:MED14-independent group 3 enhancer GRCh37_chr6:5905761-5906960 [Gene]
  • LOC126859573:MED14-independent group 3 enhancer GRCh37_chr6:6803278-6804477 [Gene]
  • LOC126859576:MED14-independent group 3 enhancer GRCh37_chr6:7505263-7506462 [Gene]
  • LOC126859578:MED14-independent group 3 enhancer GRCh37_chr6:7882299-7883498 [Gene]
  • LOC126859583:MED14-independent group 3 enhancer GRCh37_chr6:9614589-9615788 [Gene]
  • MIR5689HG:MIR5689 host gene [Gene - HGNC]
  • LOC129389423:MPRA-validated peak5614 silencer [Gene]
  • LOC129389424:MPRA-validated peak5616 silencer [Gene]
  • LOC129389425:MPRA-validated peak5617 silencer [Gene]
  • LOC129389426:MPRA-validated peak5618 silencer [Gene]
  • LOC129389427:MPRA-validated peak5620 silencer [Gene]
  • LOC129389428:MPRA-validated peak5622 silencer [Gene]
  • LOC129389429:MPRA-validated peak5624 silencer [Gene]
  • LOC129389430:MPRA-validated peak5629 silencer [Gene]
  • LOC129389431:MPRA-validated peak5630 silencer [Gene]
  • LOC129389432:MPRA-validated peak5632 silencer [Gene]
  • LOC129389433:MPRA-validated peak5636 silencer [Gene]
  • LOC129389434:MPRA-validated peak5639 silencer [Gene]
  • LOC129389435:MPRA-validated peak5642 silencer [Gene]
  • LOC129389436:MPRA-validated peak5644 silencer [Gene]
  • LOC129389437:MPRA-validated peak5647 silencer [Gene]
  • LOC129389438:MPRA-validated peak5648 silencer [Gene]
  • LOC129389439:MPRA-validated peak5649 silencer [Gene]
  • LOC129389440:MPRA-validated peak5651 silencer [Gene]
  • LOC129389441:MPRA-validated peak5653 silencer [Gene]
  • NQO2:N-ribosyldihydronicotinamide:quinone dehydrogenase 2 [Gene - OMIM - HGNC]
  • LOC111591500:NFE2L2 motif-containing MPRA enhancer 266 [Gene]
  • NQO2-AS1:NQO2 antisense RNA 1 [Gene - HGNC]
  • LOC129995597:Neanderthal introgressed variant-containing enhancer experimental_90995 [Gene]
  • LOC132089447:Neanderthal introgressed variant-containing enhancer experimental_94357 [Gene]
  • LOC132089483:Neanderthal introgressed variant-containing enhancer experimental_96039 [Gene]
  • LOC132090749:Neanderthal introgressed variant-containing enhancer experimental_96052 [Gene]
  • LOC132089484:Neanderthal introgressed variant-containing enhancer experimental_96058 [Gene]
  • LOC132090750:Neanderthal introgressed variant-containing enhancer experimental_96067 [Gene]
  • LOC132089485:Neanderthal introgressed variant-containing enhancer experimental_96069 [Gene]
  • LOC132089486:Neanderthal introgressed variant-containing enhancer experimental_96073 [Gene]
  • LOC132090751:Neanderthal introgressed variant-containing enhancer experimental_96077 [Gene]
  • LOC132089487:Neanderthal introgressed variant-containing enhancer experimental_96094 [Gene]
  • LOC132089488:Neanderthal introgressed variant-containing enhancer experimental_96121 [Gene]
  • LOC132089489:Neanderthal introgressed variant-containing enhancer experimental_96126 [Gene]
  • LOC132089490:Neanderthal introgressed variant-containing enhancer experimental_96137 [Gene]
  • LOC132089491:Neanderthal introgressed variant-containing enhancer experimental_96153 [Gene]
  • LOC132089492:Neanderthal introgressed variant-containing enhancer experimental_96161 [Gene]
  • LOC132089493:Neanderthal introgressed variant-containing enhancer experimental_96186 [Gene]
  • LOC132089494:Neanderthal introgressed variant-containing enhancer experimental_96299 [Gene]
  • LOC132089495:Neanderthal introgressed variant-containing enhancer experimental_96383 [Gene]
  • LOC132089496:Neanderthal introgressed variant-containing enhancer experimental_96450 [Gene]
  • LOC132089497:Neanderthal introgressed variant-containing enhancer experimental_96469 [Gene]
  • LOC132089498:Neanderthal introgressed variant-containing enhancer experimental_96472 [Gene]
  • LOC132089499:Neanderthal introgressed variant-containing enhancer experimental_96605 [Gene]
  • LOC132089500:Neanderthal introgressed variant-containing enhancer experimental_96748 [Gene]
  • LOC132090752:Neanderthal introgressed variant-containing enhancer experimental_96779 [Gene]
  • LOC123575642:OCT4-NANOG-H3K4me1 hESC enhancers GRCh37_chr6:829333-829880 and GRCh37_chr6:829881-830426 [Gene]
  • LOC126859588:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:11344190-11345389 [Gene]
  • LOC126859553:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:1952649-1953848 [Gene]
  • LOC126859555:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:2809907-2811106 [Gene]
  • LOC113174985:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:3209282-3210481 [Gene]
  • LOC126859561:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:4487436-4488635 [Gene]
  • LOC126859562:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:4864691-4865890 [Gene]
  • LOC126859564:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:5230418-5231617 [Gene]
  • LOC126859566:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:5541695-5542894 [Gene]
  • LOC126859574:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:6811111-6812310 [Gene]
  • LOC126859579:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:7919793-7920992 [Gene]
  • LOC126859581:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:8627414-8628613 [Gene]
  • LOC126859582:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:9405051-9406250 [Gene]
  • PAK1IP1:PAK1 interacting protein 1 [Gene - OMIM - HGNC]
  • PXDC1:PX domain containing 1 [Gene - HGNC]
  • RIOK1:RIO kinase 1 [Gene - OMIM - HGNC]
  • LOC108281148:SERPINB6-LINC01011 intergenic CAGE-defined mid-level expression enhancer [Gene]
  • SERPINB9-AS1:SERPINB9 antisense RNA 1 [Gene - HGNC]
  • LOC123575644:Sharpr-MPRA regulatory region 10202 [Gene]
  • LOC123575655:Sharpr-MPRA regulatory region 10234 [Gene]
  • LOC123575669:Sharpr-MPRA regulatory region 10259 [Gene]
  • LOC123575656:Sharpr-MPRA regulatory region 10864 [Gene]
  • LOC121740639:Sharpr-MPRA regulatory region 12108 [Gene]
  • LOC123575652:Sharpr-MPRA regulatory region 12113 [Gene]
  • LOC123575662:Sharpr-MPRA regulatory region 12169 [Gene]
  • LOC123575668:Sharpr-MPRA regulatory region 1219 [Gene]
  • LOC113175008:Sharpr-MPRA regulatory region 12260 [Gene]
  • LOC123575648:Sharpr-MPRA regulatory region 12329 [Gene]
  • LOC113174978:Sharpr-MPRA regulatory region 12426 [Gene]
  • LOC123575646:Sharpr-MPRA regulatory region 12436 [Gene]
  • LOC121740636:Sharpr-MPRA regulatory region 12515 [Gene]
  • LOC113175013:Sharpr-MPRA regulatory region 13455 [Gene]
  • LOC123575664:Sharpr-MPRA regulatory region 13737 [Gene]
  • LOC123575659:Sharpr-MPRA regulatory region 14796 [Gene]
  • LOC123575663:Sharpr-MPRA regulatory region 14963 [Gene]
  • LOC123575661:Sharpr-MPRA regulatory region 15549 [Gene]
  • LOC123575657:Sharpr-MPRA regulatory region 15708 [Gene]
  • LOC113175014:Sharpr-MPRA regulatory region 2085 [Gene]
  • LOC123575654:Sharpr-MPRA regulatory region 2334 [Gene]
  • LOC121740640:Sharpr-MPRA regulatory region 2452 [Gene]
  • LOC113174998:Sharpr-MPRA regulatory region 2502 [Gene]
  • LOC123575660:Sharpr-MPRA regulatory region 2533 [Gene]
  • LOC121099720:Sharpr-MPRA regulatory region 2671 [Gene]
  • LOC113175015:Sharpr-MPRA regulatory region 2698 [Gene]
  • LOC113174976:Sharpr-MPRA regulatory region 3200 [Gene]
  • LOC113174986:Sharpr-MPRA regulatory region 3383 [Gene]
  • LOC123575667:Sharpr-MPRA regulatory region 3750 [Gene]
  • LOC113174977:Sharpr-MPRA regulatory region 3960 [Gene]
  • LOC113175016:Sharpr-MPRA regulatory region 4297 [Gene]
  • LOC113175009:Sharpr-MPRA regulatory region 4402 [Gene]
  • LOC121099722:Sharpr-MPRA regulatory region 4425 [Gene]
  • LOC121099724:Sharpr-MPRA regulatory region 4659 [Gene]
  • LOC113174999:Sharpr-MPRA regulatory region 4929 [Gene]
  • LOC123575665:Sharpr-MPRA regulatory region 5327 [Gene]
  • LOC123575643:Sharpr-MPRA regulatory region 5333 [Gene]
  • LOC121106426:Sharpr-MPRA regulatory region 5599 [Gene]
  • LOC123575653:Sharpr-MPRA regulatory region 5686 [Gene]
  • LOC121740637:Sharpr-MPRA regulatory region 6592 [Gene]
  • LOC121099719:Sharpr-MPRA regulatory region 6984 [Gene]
  • LOC113121298:Sharpr-MPRA regulatory region 7443 [Gene]
  • LOC123575666:Sharpr-MPRA regulatory region 8043 [Gene]
  • LOC123575651:Sharpr-MPRA regulatory region 8607 [Gene]
  • LOC123575650:Sharpr-MPRA regulatory region 8965 [Gene]
  • LOC123575658:Sharpr-MPRA regulatory region 8997 [Gene]
  • LOC123575645:Sharpr-MPRA regulatory region 934 [Gene]
  • LOC121099721:Sharpr-MPRA regulatory region 9692 [Gene]
  • TFAP2A-AS1:TFAP2A antisense RNA 1 [Gene - HGNC]
  • TFAP2A-AS2:TFAP2A antisense RNA 2 [Gene - OMIM - HGNC]
  • TMEM14B-DT:TMEM14B divergent transcript [Gene - HGNC]
  • LOC132932482:Uncharacterized LOC132932482 [Gene]
  • LOC110121052:VISTA enhancer hs1315 [Gene]
  • LOC110121091:VISTA enhancer hs1391 [Gene]
  • LOC110121246:VISTA enhancer hs2060 [Gene]
  • LOC110121247:VISTA enhancer hs2061 [Gene]
  • LOC110121274:VISTA enhancer hs2191 [Gene]
  • LOC114827828:VISTA enhancer hs2285 [Gene]
  • WRNIP1:WRN helicase interacting protein 1 [Gene - OMIM - HGNC]
  • BLOC1S5:biogenesis of lysosomal organelles complex 1 subunit 5 [Gene - OMIM - HGNC]
  • BPHL:biphenyl hydrolase like [Gene - OMIM - HGNC]
  • BMP6:bone morphogenetic protein 6 [Gene - OMIM - HGNC]
  • CAGE1:cancer antigen 1 [Gene - OMIM - HGNC]
  • CDYL:chromodomain Y like [Gene - OMIM - HGNC]
  • C6orf201:chromosome 6 open reading frame 201 [Gene - HGNC]
  • C6orf52:chromosome 6 open reading frame 52 [Gene - HGNC]
  • F13A1:coagulation factor XIII A chain [Gene - OMIM - HGNC]
  • DSP:desmoplakin [Gene - OMIM - HGNC]
  • DUSP22:dual specificity phosphatase 22 [Gene - OMIM - HGNC]
  • ERVFRD-1:endogenous retrovirus group FRD member 1, envelope [Gene - OMIM - HGNC]
  • ECI2:enoyl-CoA delta isomerase 2 [Gene - OMIM - HGNC]
  • EEF1E1:eukaryotic translation elongation factor 1 epsilon 1 [Gene - OMIM - HGNC]
  • EXOC2:exocyst complex component 2 [Gene - OMIM - HGNC]
  • FAM217A:family with sequence similarity 217 member A [Gene - HGNC]
  • FAM50B:family with sequence similarity 50 member B [Gene - OMIM - HGNC]
  • FOXC1:forkhead box C1 [Gene - OMIM - HGNC]
  • FOXF2:forkhead box F2 [Gene - OMIM - HGNC]
  • FOXQ1:forkhead box Q1 [Gene - OMIM - HGNC]
  • GCM2:glial cells missing transcription factor 2 [Gene - OMIM - HGNC]
  • GCNT2:glucosaminyl (N-acetyl) transferase 2 (I blood group) [Gene - OMIM - HGNC]
  • LOC123575647:hESC enhancers GRCh37_chr6:2907997-2908830 and GRCh37_chr6:2908831-2909664 [Gene]
  • LOC123575649:hESC enhancers GRCh37_chr6:3165973-3166571 and GRCh37_chr6:3166572-3167171 [Gene]
  • HULC:hepatocellular carcinoma up-regulated long non-coding RNA [Gene - OMIM - HGNC]
  • IRF4:interferon regulatory factor 4 [Gene - OMIM - HGNC]
  • LIRIL2R:lincRNA regulator of IL2RA [Gene - HGNC]
  • LINC01011:long intergenic non-protein coding RNA 1011 [Gene - HGNC]
  • LINC01394:long intergenic non-protein coding RNA 1394 [Gene - HGNC]
  • LINC01600:long intergenic non-protein coding RNA 1600 [Gene - HGNC]
  • LINC01622:long intergenic non-protein coding RNA 1622 [Gene - HGNC]
  • LINC02521:long intergenic non-protein coding RNA 2521 [Gene - HGNC]
  • LINC02522:long intergenic non-protein coding RNA 2522 [Gene - HGNC]
  • LINC02525:long intergenic non-protein coding RNA 2525 [Gene - HGNC]
  • LINC02533:long intergenic non-protein coding RNA 2533 [Gene - HGNC]
  • LINC03066:long intergenic non-protein coding RNA 3066 [Gene - HGNC]
  • LINC00518:long intergenic non-protein coding RNA 518 [Gene - HGNC]
  • LY86:lymphocyte antigen 86 [Gene - OMIM - HGNC]
  • MAK:male germ cell associated kinase [Gene - OMIM - HGNC]
  • MIR3691:microRNA 3691 [Gene - HGNC]
  • MIR4645:microRNA 4645 [Gene - HGNC]
  • MIR5683:microRNA 5683 [Gene - HGNC]
  • MIR5689:microRNA 5689 [Gene - HGNC]
  • MIR6720:microRNA 6720 [Gene - HGNC]
  • MIR7853:microRNA 7853 [Gene - HGNC]
  • MYLK4:myosin light chain kinase family member 4 [Gene - HGNC]
  • NEDD9:neural precursor cell expressed, developmentally down-regulated 9 [Gene - OMIM - HGNC]
  • NRN1:neuritin 1 [Gene - OMIM - HGNC]
  • LOC106794091:nonconserved acetylation island sequence 71 enhancer [Gene]
  • OFCC1:orofacial cleft 1 candidate 1 [Gene - OMIM - HGNC]
  • FARS2:phenylalanyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • PRP4K:pre-mRNA processing factor kinase PRP4K [Gene - OMIM - HGNC]
  • PSMG4:proteasome assembly chaperone 4 [Gene - OMIM - HGNC]
  • PPP1R3G:protein phosphatase 1 regulatory subunit 3G [Gene - OMIM - HGNC]
  • RREB1:ras responsive element binding protein 1 [Gene - OMIM - HGNC]
  • RIPK1:receptor interacting serine/threonine kinase 1 [Gene - OMIM - HGNC]
  • RPP40:ribonuclease P/MRP subunit p40 [Gene - OMIM - HGNC]
  • SERPINB1:serpin family B member 1 [Gene - OMIM - HGNC]
  • SERPINB6:serpin family B member 6 [Gene - OMIM - HGNC]
  • SERPINB9:serpin family B member 9 [Gene - OMIM - HGNC]
  • SSR1:signal sequence receptor subunit 1 [Gene - OMIM - HGNC]
  • LOC111721709:skeletal muscle cis-regulatory module in RREB1 intron [Gene]
  • SCARNA27:small Cajal body-specific RNA 27 [Gene - HGNC]
  • SMIM13:small integral membrane protein 13 [Gene - HGNC]
  • SNRNP48:small nuclear ribonucleoprotein U11/U12 subunit 48 [Gene - HGNC]
  • SLC22A23:solute carrier family 22 member 23 [Gene - OMIM - HGNC]
  • SLC35B3:solute carrier family 35 member B3 [Gene - OMIM - HGNC]
  • SYCP2L:synaptonemal complex protein 2 like [Gene - OMIM - HGNC]
  • TXNDC5:thioredoxin domain containing 5 [Gene - OMIM - HGNC]
  • TFAP2A:transcription factor AP-2 alpha [Gene - OMIM - HGNC]
  • TMEM14B:transmembrane protein 14B [Gene - OMIM - HGNC]
  • TMEM14C:transmembrane protein 14C [Gene - OMIM - HGNC]
  • TMEM170B:transmembrane protein 170B [Gene - HGNC]
  • TUBB2A:tubulin beta 2A class IIa [Gene - OMIM - HGNC]
  • TUBB2B:tubulin beta 2B class IIb [Gene - OMIM - HGNC]
  • LOC100422781:uncharacterized LOC100422781 [Gene]
  • LOC100506207:uncharacterized LOC100506207 [Gene]
  • LOC100507336:uncharacterized LOC100507336 [Gene]
  • LOC101927691:uncharacterized LOC101927691 [Gene]
  • LOC101927759:uncharacterized LOC101927759 [Gene]
  • LOC101927888:uncharacterized LOC101927888 [Gene]
  • LOC101927950:uncharacterized LOC101927950 [Gene]
  • LOC101928004:uncharacterized LOC101928004 [Gene]
  • LOC101928191:uncharacterized LOC101928191 [Gene]
  • LOC102724096:uncharacterized LOC102724096 [Gene]
  • LOC105374901:uncharacterized LOC105374901 [Gene]
  • LOC105374928:uncharacterized LOC105374928 [Gene]
  • KU-MEL-3:uncharacterized LOC497048 [Gene]
  • LOC643327:uncharacterized LOC643327 [Gene]
Variant type:
copy number gain
Cytogenetic location:
6p25.3-24.2
Genomic location:
Preferred name:
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3
HGVS:
  • NC_000006.12:g.(?_156974)_(11550817_?)dup
  • NC_000006.11:g.(?_156974)_(11551050_?)dup
Links:
dbVar: nssv3395369; dbVar: nsv996183
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
SCV000183613ISCA 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, SCV000183613.4

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

Last Updated: Sep 1, 2024