GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 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:
RCV000136089.6

Allele description [Variation Report for GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1]

GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1

Genes:
  • HTR5A:5-hydroxytryptamine receptor 5A [Gene - OMIM - HGNC]
  • ABCF2-H2BK1:ABCF2-H2BK1 readthrough [Gene - HGNC]
  • LOC129999596:ATAC-STARR-seq lymphoblastoid active region 26833 [Gene]
  • LOC129999597:ATAC-STARR-seq lymphoblastoid active region 26834 [Gene]
  • LOC129999598:ATAC-STARR-seq lymphoblastoid active region 26835 [Gene]
  • LOC129999600:ATAC-STARR-seq lymphoblastoid active region 26836 [Gene]
  • LOC129999601:ATAC-STARR-seq lymphoblastoid active region 26837 [Gene]
  • LOC129999602:ATAC-STARR-seq lymphoblastoid active region 26838 [Gene]
  • LOC129999603:ATAC-STARR-seq lymphoblastoid active region 26839 [Gene]
  • LOC129999604:ATAC-STARR-seq lymphoblastoid active region 26840 [Gene]
  • LOC129999605:ATAC-STARR-seq lymphoblastoid active region 26841 [Gene]
  • LOC129999606:ATAC-STARR-seq lymphoblastoid active region 26842 [Gene]
  • LOC129999607:ATAC-STARR-seq lymphoblastoid active region 26843 [Gene]
  • LOC129999614:ATAC-STARR-seq lymphoblastoid active region 26844 [Gene]
  • LOC129999617:ATAC-STARR-seq lymphoblastoid active region 26847 [Gene]
  • LOC129999618:ATAC-STARR-seq lymphoblastoid active region 26848 [Gene]
  • LOC129999619:ATAC-STARR-seq lymphoblastoid active region 26849 [Gene]
  • LOC129999620:ATAC-STARR-seq lymphoblastoid active region 26850 [Gene]
  • LOC129999628:ATAC-STARR-seq lymphoblastoid active region 26851 [Gene]
  • LOC129999633:ATAC-STARR-seq lymphoblastoid active region 26852 [Gene]
  • LOC129999635:ATAC-STARR-seq lymphoblastoid active region 26853 [Gene]
  • LOC129999636:ATAC-STARR-seq lymphoblastoid active region 26854 [Gene]
  • LOC129999637:ATAC-STARR-seq lymphoblastoid active region 26855 [Gene]
  • LOC129999640:ATAC-STARR-seq lymphoblastoid active region 26856 [Gene]
  • LOC129999641:ATAC-STARR-seq lymphoblastoid active region 26857 [Gene]
  • LOC129999642:ATAC-STARR-seq lymphoblastoid active region 26858 [Gene]
  • LOC129999644:ATAC-STARR-seq lymphoblastoid active region 26859 [Gene]
  • LOC129999647:ATAC-STARR-seq lymphoblastoid active region 26860 [Gene]
  • LOC129999648:ATAC-STARR-seq lymphoblastoid active region 26861 [Gene]
  • LOC129999649:ATAC-STARR-seq lymphoblastoid active region 26862 [Gene]
  • LOC129999650:ATAC-STARR-seq lymphoblastoid active region 26863 [Gene]
  • LOC129999651:ATAC-STARR-seq lymphoblastoid active region 26864 [Gene]
  • LOC129999653:ATAC-STARR-seq lymphoblastoid active region 26865 [Gene]
  • LOC129999654:ATAC-STARR-seq lymphoblastoid active region 26866 [Gene]
  • LOC129999658:ATAC-STARR-seq lymphoblastoid active region 26867 [Gene]
  • LOC129999661:ATAC-STARR-seq lymphoblastoid active region 26868 [Gene]
  • LOC129999662:ATAC-STARR-seq lymphoblastoid active region 26869 [Gene]
  • LOC129999665:ATAC-STARR-seq lymphoblastoid active region 26870 [Gene]
  • LOC129999666:ATAC-STARR-seq lymphoblastoid active region 26871 [Gene]
  • LOC129999667:ATAC-STARR-seq lymphoblastoid active region 26872 [Gene]
  • LOC129999671:ATAC-STARR-seq lymphoblastoid active region 26873 [Gene]
  • LOC129999672:ATAC-STARR-seq lymphoblastoid active region 26874 [Gene]
  • LOC129999673:ATAC-STARR-seq lymphoblastoid active region 26875 [Gene]
  • LOC129999675:ATAC-STARR-seq lymphoblastoid active region 26876 [Gene]
  • LOC129999676:ATAC-STARR-seq lymphoblastoid active region 26877 [Gene]
  • LOC129999677:ATAC-STARR-seq lymphoblastoid active region 26878 [Gene]
  • LOC129999678:ATAC-STARR-seq lymphoblastoid active region 26879 [Gene]
  • LOC129999679:ATAC-STARR-seq lymphoblastoid active region 26880 [Gene]
  • LOC129999680:ATAC-STARR-seq lymphoblastoid active region 26881 [Gene]
  • LOC129999686:ATAC-STARR-seq lymphoblastoid active region 26882 [Gene]
  • LOC129999687:ATAC-STARR-seq lymphoblastoid active region 26883 [Gene]
  • LOC129999688:ATAC-STARR-seq lymphoblastoid active region 26884 [Gene]
  • LOC129999689:ATAC-STARR-seq lymphoblastoid active region 26885 [Gene]
  • LOC129999690:ATAC-STARR-seq lymphoblastoid active region 26886 [Gene]
  • LOC129999691:ATAC-STARR-seq lymphoblastoid active region 26887 [Gene]
  • LOC129999692:ATAC-STARR-seq lymphoblastoid active region 26888 [Gene]
  • LOC129999693:ATAC-STARR-seq lymphoblastoid active region 26889 [Gene]
  • LOC129999698:ATAC-STARR-seq lymphoblastoid active region 26890 [Gene]
  • LOC129999700:ATAC-STARR-seq lymphoblastoid active region 26891 [Gene]
  • LOC129999701:ATAC-STARR-seq lymphoblastoid active region 26892 [Gene]
  • LOC129999702:ATAC-STARR-seq lymphoblastoid active region 26893 [Gene]
  • LOC129999703:ATAC-STARR-seq lymphoblastoid active region 26894 [Gene]
  • LOC129999704:ATAC-STARR-seq lymphoblastoid active region 26895 [Gene]
  • LOC129999706:ATAC-STARR-seq lymphoblastoid active region 26896 [Gene]
  • LOC129999711:ATAC-STARR-seq lymphoblastoid active region 26898 [Gene]
  • LOC129999712:ATAC-STARR-seq lymphoblastoid active region 26899 [Gene]
  • LOC129999713:ATAC-STARR-seq lymphoblastoid active region 26901 [Gene]
  • LOC129999714:ATAC-STARR-seq lymphoblastoid active region 26902 [Gene]
  • LOC129999715:ATAC-STARR-seq lymphoblastoid active region 26903 [Gene]
  • LOC129999716:ATAC-STARR-seq lymphoblastoid active region 26904 [Gene]
  • LOC129999717:ATAC-STARR-seq lymphoblastoid active region 26905 [Gene]
  • LOC129999718:ATAC-STARR-seq lymphoblastoid active region 26906 [Gene]
  • LOC129999719:ATAC-STARR-seq lymphoblastoid active region 26907 [Gene]
  • LOC129999720:ATAC-STARR-seq lymphoblastoid active region 26908 [Gene]
  • LOC129999721:ATAC-STARR-seq lymphoblastoid active region 26909 [Gene]
  • LOC129999722:ATAC-STARR-seq lymphoblastoid active region 26910 [Gene]
  • LOC129999723:ATAC-STARR-seq lymphoblastoid active region 26911 [Gene]
  • LOC129999724:ATAC-STARR-seq lymphoblastoid active region 26912 [Gene]
  • LOC129999725:ATAC-STARR-seq lymphoblastoid active region 26913 [Gene]
  • LOC129999728:ATAC-STARR-seq lymphoblastoid active region 26914 [Gene]
  • LOC129999729:ATAC-STARR-seq lymphoblastoid active region 26915 [Gene]
  • LOC129999730:ATAC-STARR-seq lymphoblastoid active region 26916 [Gene]
  • LOC129999731:ATAC-STARR-seq lymphoblastoid active region 26917 [Gene]
  • LOC129999738:ATAC-STARR-seq lymphoblastoid active region 26918 [Gene]
  • LOC129999739:ATAC-STARR-seq lymphoblastoid active region 26919 [Gene]
  • LOC129999740:ATAC-STARR-seq lymphoblastoid active region 26920 [Gene]
  • LOC129999741:ATAC-STARR-seq lymphoblastoid active region 26921 [Gene]
  • LOC129999742:ATAC-STARR-seq lymphoblastoid active region 26922 [Gene]
  • LOC129999746:ATAC-STARR-seq lymphoblastoid active region 26923 [Gene]
  • LOC129999747:ATAC-STARR-seq lymphoblastoid active region 26924 [Gene]
  • LOC129999748:ATAC-STARR-seq lymphoblastoid active region 26925 [Gene]
  • LOC129999749:ATAC-STARR-seq lymphoblastoid active region 26926 [Gene]
  • LOC129999750:ATAC-STARR-seq lymphoblastoid active region 26927 [Gene]
  • LOC129999751:ATAC-STARR-seq lymphoblastoid active region 26928 [Gene]
  • LOC129999752:ATAC-STARR-seq lymphoblastoid active region 26929 [Gene]
  • LOC129999753:ATAC-STARR-seq lymphoblastoid active region 26930 [Gene]
  • LOC129999757:ATAC-STARR-seq lymphoblastoid active region 26931 [Gene]
  • LOC129999758:ATAC-STARR-seq lymphoblastoid active region 26932 [Gene]
  • LOC129999764:ATAC-STARR-seq lymphoblastoid active region 26933 [Gene]
  • LOC129999766:ATAC-STARR-seq lymphoblastoid active region 26936 [Gene]
  • LOC129999767:ATAC-STARR-seq lymphoblastoid active region 26937 [Gene]
  • LOC129999599:ATAC-STARR-seq lymphoblastoid silent region 18781 [Gene]
  • LOC129999608:ATAC-STARR-seq lymphoblastoid silent region 18782 [Gene]
  • LOC129999609:ATAC-STARR-seq lymphoblastoid silent region 18783 [Gene]
  • LOC129999610:ATAC-STARR-seq lymphoblastoid silent region 18785 [Gene]
  • LOC129999611:ATAC-STARR-seq lymphoblastoid silent region 18786 [Gene]
  • LOC129999612:ATAC-STARR-seq lymphoblastoid silent region 18787 [Gene]
  • LOC129999613:ATAC-STARR-seq lymphoblastoid silent region 18788 [Gene]
  • LOC129999615:ATAC-STARR-seq lymphoblastoid silent region 18790 [Gene]
  • LOC129999616:ATAC-STARR-seq lymphoblastoid silent region 18791 [Gene]
  • LOC129999621:ATAC-STARR-seq lymphoblastoid silent region 18792 [Gene]
  • LOC129999622:ATAC-STARR-seq lymphoblastoid silent region 18793 [Gene]
  • LOC129999623:ATAC-STARR-seq lymphoblastoid silent region 18796 [Gene]
  • LOC129999624:ATAC-STARR-seq lymphoblastoid silent region 18797 [Gene]
  • LOC129999625:ATAC-STARR-seq lymphoblastoid silent region 18798 [Gene]
  • LOC129999626:ATAC-STARR-seq lymphoblastoid silent region 18799 [Gene]
  • LOC129999627:ATAC-STARR-seq lymphoblastoid silent region 18800 [Gene]
  • LOC129999629:ATAC-STARR-seq lymphoblastoid silent region 18801 [Gene]
  • LOC129999630:ATAC-STARR-seq lymphoblastoid silent region 18802 [Gene]
  • LOC129999631:ATAC-STARR-seq lymphoblastoid silent region 18803 [Gene]
  • LOC129999632:ATAC-STARR-seq lymphoblastoid silent region 18804 [Gene]
  • LOC129999634:ATAC-STARR-seq lymphoblastoid silent region 18805 [Gene]
  • LOC129999638:ATAC-STARR-seq lymphoblastoid silent region 18806 [Gene]
  • LOC129999639:ATAC-STARR-seq lymphoblastoid silent region 18809 [Gene]
  • LOC129999643:ATAC-STARR-seq lymphoblastoid silent region 18812 [Gene]
  • LOC129999645:ATAC-STARR-seq lymphoblastoid silent region 18813 [Gene]
  • LOC129999646:ATAC-STARR-seq lymphoblastoid silent region 18814 [Gene]
  • LOC129999652:ATAC-STARR-seq lymphoblastoid silent region 18816 [Gene]
  • LOC129999655:ATAC-STARR-seq lymphoblastoid silent region 18819 [Gene]
  • LOC129999656:ATAC-STARR-seq lymphoblastoid silent region 18820 [Gene]
  • LOC129999657:ATAC-STARR-seq lymphoblastoid silent region 18821 [Gene]
  • LOC129999659:ATAC-STARR-seq lymphoblastoid silent region 18822 [Gene]
  • LOC129999660:ATAC-STARR-seq lymphoblastoid silent region 18823 [Gene]
  • LOC129999663:ATAC-STARR-seq lymphoblastoid silent region 18824 [Gene]
  • LOC129999664:ATAC-STARR-seq lymphoblastoid silent region 18825 [Gene]
  • LOC129999668:ATAC-STARR-seq lymphoblastoid silent region 18826 [Gene]
  • LOC129999669:ATAC-STARR-seq lymphoblastoid silent region 18827 [Gene]
  • LOC129999670:ATAC-STARR-seq lymphoblastoid silent region 18828 [Gene]
  • LOC129999674:ATAC-STARR-seq lymphoblastoid silent region 18829 [Gene]
  • LOC129999681:ATAC-STARR-seq lymphoblastoid silent region 18830 [Gene]
  • LOC129999682:ATAC-STARR-seq lymphoblastoid silent region 18831 [Gene]
  • LOC129999683:ATAC-STARR-seq lymphoblastoid silent region 18832 [Gene]
  • LOC129999684:ATAC-STARR-seq lymphoblastoid silent region 18833 [Gene]
  • LOC129999685:ATAC-STARR-seq lymphoblastoid silent region 18835 [Gene]
  • LOC129999694:ATAC-STARR-seq lymphoblastoid silent region 18839 [Gene]
  • LOC129999695:ATAC-STARR-seq lymphoblastoid silent region 18840 [Gene]
  • LOC129999696:ATAC-STARR-seq lymphoblastoid silent region 18841 [Gene]
  • LOC129999697:ATAC-STARR-seq lymphoblastoid silent region 18842 [Gene]
  • LOC129999699:ATAC-STARR-seq lymphoblastoid silent region 18843 [Gene]
  • LOC129999705:ATAC-STARR-seq lymphoblastoid silent region 18844 [Gene]
  • LOC129999707:ATAC-STARR-seq lymphoblastoid silent region 18845 [Gene]
  • LOC129999708:ATAC-STARR-seq lymphoblastoid silent region 18846 [Gene]
  • LOC129999709:ATAC-STARR-seq lymphoblastoid silent region 18847 [Gene]
  • LOC129999710:ATAC-STARR-seq lymphoblastoid silent region 18848 [Gene]
  • LOC129999726:ATAC-STARR-seq lymphoblastoid silent region 18852 [Gene]
  • LOC129999727:ATAC-STARR-seq lymphoblastoid silent region 18853 [Gene]
  • LOC129999732:ATAC-STARR-seq lymphoblastoid silent region 18854 [Gene]
  • LOC129999733:ATAC-STARR-seq lymphoblastoid silent region 18855 [Gene]
  • LOC129999734:ATAC-STARR-seq lymphoblastoid silent region 18856 [Gene]
  • LOC129999735:ATAC-STARR-seq lymphoblastoid silent region 18857 [Gene]
  • LOC129999736:ATAC-STARR-seq lymphoblastoid silent region 18858 [Gene]
  • LOC129999737:ATAC-STARR-seq lymphoblastoid silent region 18859 [Gene]
  • LOC129999743:ATAC-STARR-seq lymphoblastoid silent region 18860 [Gene]
  • LOC129999744:ATAC-STARR-seq lymphoblastoid silent region 18861 [Gene]
  • LOC129999745:ATAC-STARR-seq lymphoblastoid silent region 18862 [Gene]
  • LOC129999754:ATAC-STARR-seq lymphoblastoid silent region 18866 [Gene]
  • LOC129999755:ATAC-STARR-seq lymphoblastoid silent region 18867 [Gene]
  • LOC129999756:ATAC-STARR-seq lymphoblastoid silent region 18868 [Gene]
  • LOC129999759:ATAC-STARR-seq lymphoblastoid silent region 18869 [Gene]
  • LOC129999760:ATAC-STARR-seq lymphoblastoid silent region 18870 [Gene]
  • LOC129999761:ATAC-STARR-seq lymphoblastoid silent region 18871 [Gene]
  • LOC129999762:ATAC-STARR-seq lymphoblastoid silent region 18872 [Gene]
  • LOC129999763:ATAC-STARR-seq lymphoblastoid silent region 18873 [Gene]
  • LOC129999765:ATAC-STARR-seq lymphoblastoid silent region 18874 [Gene]
  • LOC129999768:ATAC-STARR-seq lymphoblastoid silent region 18875 [Gene]
  • ABCB8:ATP binding cassette subfamily B member 8 [Gene - OMIM - HGNC]
  • ABCF2:ATP binding cassette subfamily F member 2 [Gene - OMIM - HGNC]
  • AGAP3:ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 [Gene - OMIM - HGNC]
  • BLACE:B cell acute lymphoblastic leukemia expressed [Gene - OMIM - HGNC]
  • LOC126860227:BRD4-independent group 4 enhancer GRCh37_chr7:151804574-151805773 [Gene]
  • LOC126860229:BRD4-independent group 4 enhancer GRCh37_chr7:152547394-152548593 [Gene]
  • LOC126860232:BRD4-independent group 4 enhancer GRCh37_chr7:152900290-152901489 [Gene]
  • LOC126860234:BRD4-independent group 4 enhancer GRCh37_chr7:153129747-153130946 [Gene]
  • LOC126860236:BRD4-independent group 4 enhancer GRCh37_chr7:153555187-153556386 [Gene]
  • LOC126860237:BRD4-independent group 4 enhancer GRCh37_chr7:154451859-154453058 [Gene]
  • LOC126860238:BRD4-independent group 4 enhancer GRCh37_chr7:154455057-154456256 [Gene]
  • LOC126860239:BRD4-independent group 4 enhancer GRCh37_chr7:154737734-154738933 [Gene]
  • LOC126860240:BRD4-independent group 4 enhancer GRCh37_chr7:154989644-154990843 [Gene]
  • LOC126860244:BRD4-independent group 4 enhancer GRCh37_chr7:155632935-155634134 [Gene]
  • LOC126860245:BRD4-independent group 4 enhancer GRCh37_chr7:155661375-155662574 [Gene]
  • LOC126860249:BRD4-independent group 4 enhancer GRCh37_chr7:155855824-155857023 [Gene]
  • LOC126860258:BRD4-independent group 4 enhancer GRCh37_chr7:158134599-158135798 [Gene]
  • LOC126860261:BRD4-independent group 4 enhancer GRCh37_chr7:158526538-158527737 [Gene]
  • LOC126860262:BRD4-independent group 4 enhancer GRCh37_chr7:158702850-158704049 [Gene]
  • LOC126860263:BRD4-independent group 4 enhancer GRCh37_chr7:158850668-158851867 [Gene]
  • LOC126860265:BRD4-independent group 4 enhancer GRCh37_chr7:158961997-158963196 [Gene]
  • LOC126860224:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:150698330-150699529 [Gene]
  • LOC126860225:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:150910975-150912174 [Gene]
  • LOC126860230:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:152744087-152745286 [Gene]
  • LOC126860243:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:155567610-155568809 [Gene]
  • LOC126860246:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:155678617-155679816 [Gene]
  • LOC126860250:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:155857309-155858508 [Gene]
  • LOC126860255:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:157387093-157388292 [Gene]
  • LOC116186918:CRISPRi-validated cis-regulatory element chr7.5881 [Gene]
  • LOC110599567:D7S22 minisatellite repeat instability region [Gene]
  • DNAJB6:DnaJ heat shock protein family (Hsp40) member B6 [Gene - OMIM - HGNC]
  • EN2-DT:EN2 divergent transcript [Gene - HGNC]
  • FASTK:Fas activated serine/threonine kinase [Gene - OMIM - HGNC]
  • GIMAP1-GIMAP5:GIMAP1-GIMAP5 readthrough [Gene - HGNC]
  • GIMAP1:GTPase, IMAP family member 1 [Gene - OMIM - HGNC]
  • GIMAP2:GTPase, IMAP family member 2 [Gene - OMIM - HGNC]
  • GIMAP4:GTPase, IMAP family member 4 [Gene - OMIM - HGNC]
  • GIMAP5:GTPase, IMAP family member 5 [Gene - OMIM - HGNC]
  • GIMAP6:GTPase, IMAP family member 6 [Gene - OMIM - HGNC]
  • GIMAP7:GTPase, IMAP family member 7 [Gene - OMIM - HGNC]
  • H2BK1:H2B.K variant histone 1 [Gene - HGNC]
  • HTR5A-AS1:HTR5A antisense RNA 1 [Gene - HGNC]
  • INSIG1-DT:INSIG1 divergent transcript [Gene - HGNC]
  • IQCA1L:IQ motif containing with AAA domain 1 like [Gene - HGNC]
  • LOC108254663:LINC00689 intron CAGE-defined high expression enhancer [Gene]
  • LOC126860226:MED14-independent group 3 enhancer GRCh37_chr7:150936637-150937836 [Gene]
  • LOC126860228:MED14-independent group 3 enhancer GRCh37_chr7:152430472-152431671 [Gene]
  • LOC126860231:MED14-independent group 3 enhancer GRCh37_chr7:152887976-152889175 [Gene]
  • LOC126860233:MED14-independent group 3 enhancer GRCh37_chr7:153109801-153111000 [Gene]
  • LOC126860241:MED14-independent group 3 enhancer GRCh37_chr7:155274926-155276125 [Gene]
  • LOC126860242:MED14-independent group 3 enhancer GRCh37_chr7:155534138-155535337 [Gene]
  • LOC126860251:MED14-independent group 3 enhancer GRCh37_chr7:156449836-156451035 [Gene]
  • LOC126860252:MED14-independent group 3 enhancer GRCh37_chr7:156707384-156708583 [Gene]
  • LOC126860260:MED14-independent group 3 enhancer GRCh37_chr7:158456637-158457836 [Gene]
  • MNX1-AS1:MNX1 antisense RNA 1 (head to head) [Gene - HGNC]
  • MNX1-AS2:MNX1 antisense RNA 2 [Gene - HGNC]
  • LOC129389930:MPRA-validated peak6843 silencer [Gene]
  • LOC129389931:MPRA-validated peak6844 silencer [Gene]
  • LOC129389932:MPRA-validated peak6845 silencer [Gene]
  • LOC129389933:MPRA-validated peak6846 silencer [Gene]
  • LOC129389934:MPRA-validated peak6847 silencer [Gene]
  • LOC129389935:MPRA-validated peak6848 silencer [Gene]
  • LOC129389936:MPRA-validated peak6849 silencer [Gene]
  • LOC129389937:MPRA-validated peak6850 silencer [Gene]
  • LOC129389938:MPRA-validated peak6855 silencer [Gene]
  • LOC129389939:MPRA-validated peak6860 silencer [Gene]
  • LOC129389940:MPRA-validated peak6863 silencer [Gene]
  • LOC129389941:MPRA-validated peak6864 silencer [Gene]
  • LOC129389942:MPRA-validated peak6866 silencer [Gene]
  • LOC129389943:MPRA-validated peak6868 silencer [Gene]
  • LOC129389944:MPRA-validated peak6870 silencer [Gene]
  • LOC129389945:MPRA-validated peak6872 silencer [Gene]
  • LOC129389946:MPRA-validated peak6875 silencer [Gene]
  • LOC129389947:MPRA-validated peak6876 silencer [Gene]
  • LOC129389948:MPRA-validated peak6878 silencer [Gene]
  • LOC129389949:MPRA-validated peak6880 silencer [Gene]
  • LOC129389950:MPRA-validated peak6883 silencer [Gene]
  • LOC110973015:NOS3 5' regulatory region [Gene]
  • LOC132089518:Neanderthal introgressed variant-containing enhancer experimental_97964 [Gene]
  • LOC132089519:Neanderthal introgressed variant-containing enhancer experimental_97987 [Gene]
  • LOC132089520:Neanderthal introgressed variant-containing enhancer experimental_98034 [Gene]
  • LOC126860235:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:153154481-153155680 [Gene]
  • LOC126860247:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:155743904-155745103 [Gene]
  • LOC126860248:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:155754590-155755789 [Gene]
  • LOC126860253:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:157355168-157356367 [Gene]
  • LOC126860254:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:157357033-157358232 [Gene]
  • LOC126860256:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:157637302-157638501 [Gene]
  • LOC126860257:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:157725255-157726454 [Gene]
  • LOC126860259:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:158166900-158168099 [Gene]
  • LOC126860264:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:158939357-158940556 [Gene]
  • PAXIP1:PAX interacting protein 1 [Gene - OMIM - HGNC]
  • PAXIP1-AS2:PAXIP1 antisense RNA 2 [Gene - HGNC]
  • PAXIP1-DT:PAXIP1 divergent transcript [Gene - HGNC]
  • PRKAG2-AS1:PRKAG2 antisense RNA 1 [Gene - HGNC]
  • PRKAG2-AS2:PRKAG2 antisense RNA 2 [Gene - HGNC]
  • PTPRN2-AS1:PTPRN2 antisense RNA 1 [Gene - HGNC]
  • RBM33-DT:RBM33 divergent transcript [Gene - HGNC]
  • RBM33:RNA binding motif protein 33 [Gene - HGNC]
  • RNF32-AS1:RNF32 antisense RNA 1 [Gene - HGNC]
  • RNF32-DT:RNF32 divergent transcript [Gene - OMIM - HGNC]
  • RHEB:Ras homolog, mTORC1 binding [Gene - OMIM - HGNC]
  • SBE2:SHH brain enhancer 2 [Gene]
  • LOC106049962:SHH silencer LOC106049962 [Gene]
  • SMARCD3:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 [Gene - OMIM - HGNC]
  • LOC123956278:Sharpr-MPRA regulatory region 10004 [Gene]
  • LOC121740707:Sharpr-MPRA regulatory region 10119 [Gene]
  • LOC121201619:Sharpr-MPRA regulatory region 10383 [Gene]
  • LOC114004407:Sharpr-MPRA regulatory region 11620 [Gene]
  • LOC121201618:Sharpr-MPRA regulatory region 11983 [Gene]
  • LOC121740704:Sharpr-MPRA regulatory region 12172 [Gene]
  • LOC113687207:Sharpr-MPRA regulatory region 13578 [Gene]
  • LOC123956269:Sharpr-MPRA regulatory region 13648 [Gene]
  • LOC123956275:Sharpr-MPRA regulatory region 14434 [Gene]
  • LOC113687204:Sharpr-MPRA regulatory region 15220 [Gene]
  • LOC123956272:Sharpr-MPRA regulatory region 15588 [Gene]
  • LOC123956274:Sharpr-MPRA regulatory region 2063 [Gene]
  • LOC113743971:Sharpr-MPRA regulatory region 2850 [Gene]
  • LOC113687205:Sharpr-MPRA regulatory region 3106 [Gene]
  • LOC113687206:Sharpr-MPRA regulatory region 3392 [Gene]
  • LOC123956279:Sharpr-MPRA regulatory region 3765 [Gene]
  • LOC123956276:Sharpr-MPRA regulatory region 4112 [Gene]
  • LOC121201620:Sharpr-MPRA regulatory region 4962 [Gene]
  • LOC123956280:Sharpr-MPRA regulatory region 5233 [Gene]
  • LOC113687208:Sharpr-MPRA regulatory region 5343 [Gene]
  • LOC123956282:Sharpr-MPRA regulatory region 5385 [Gene]
  • LOC123956271:Sharpr-MPRA regulatory region 5574 [Gene]
  • LOC123956273:Sharpr-MPRA regulatory region 5889 [Gene]
  • LOC123956270:Sharpr-MPRA regulatory region 6092 [Gene]
  • LOC123956281:Sharpr-MPRA regulatory region 8406 [Gene]
  • LOC123956284:Sharpr-MPRA regulatory region 8416 [Gene]
  • LOC123956285:Sharpr-MPRA regulatory region 8832 [Gene]
  • LOC123956277:Sharpr-MPRA regulatory region 9102 [Gene]
  • LOC121740705:Sharpr-MPRA regulatory region 9204 [Gene]
  • LOC123956283:Sharpr-MPRA regulatory region 9311 [Gene]
  • LOC121740706:Sharpr-MPRA regulatory region 9615 [Gene]
  • LOC121201621:Sharpr-MPRA regulatory region 9999 [Gene]
  • LOC110121044:VISTA enhancer hs1268 [Gene]
  • LOC110121094:VISTA enhancer hs1418 [Gene]
  • LOC110121203:VISTA enhancer hs1753 [Gene]
  • LOC110121275:VISTA enhancer hs2192 [Gene]
  • LOC110121276:VISTA enhancer hs2193 [Gene]
  • LOC110121277:VISTA enhancer hs2194 [Gene]
  • LOC110121278:VISTA enhancer hs2199 [Gene]
  • LOC110121279:VISTA enhancer hs2200 [Gene]
  • WDR86:WD repeat domain 86 [Gene - HGNC]
  • WDR86-AS1:WDR86 antisense RNA 1 [Gene - HGNC]
  • XRCC2:X-ray repair cross complementing 2 [Gene - OMIM - HGNC]
  • ZRS:ZPA regulatory sequence [Gene - OMIM]
  • LOC114255744:ZRS shadow enhancer [Gene]
  • ASIC3:acid sensing ion channel subunit 3 [Gene - OMIM - HGNC]
  • ACTR3B:actin related protein 3B [Gene - HGNC]
  • AOC1:amine oxidase copper containing 1 [Gene - OMIM - HGNC]
  • ASB10:ankyrin repeat and SOCS box containing 10 [Gene - OMIM - HGNC]
  • ATG9B:autophagy related 9B [Gene - OMIM - HGNC]
  • CNPY1:canopy FGF signaling regulator 1 [Gene - OMIM - HGNC]
  • CHPF2:chondroitin polymerizing factor 2 [Gene - OMIM - HGNC]
  • CRYGN:crystallin gamma N [Gene - OMIM - HGNC]
  • CDK5:cyclin dependent kinase 5 [Gene - OMIM - HGNC]
  • DPP6:dipeptidyl peptidase like 6 [Gene - OMIM - HGNC]
  • DYNC2I1:dynein 2 intermediate chain 1 [Gene - OMIM - HGNC]
  • EN2:engrailed homeobox 2 [Gene - OMIM - HGNC]
  • ESYT2:extended synaptotagmin 2 [Gene - OMIM - HGNC]
  • GBX1:gastrulation brain homeobox 1 [Gene - OMIM - HGNC]
  • INSIG1:insulin induced gene 1 [Gene - OMIM - HGNC]
  • LMBR1:limb development membrane protein 1 [Gene - OMIM - HGNC]
  • LINC01003:long intergenic non-protein coding RNA 1003 [Gene - HGNC]
  • LINC01022:long intergenic non-protein coding RNA 1022 [Gene - HGNC]
  • LINC01287:long intergenic non-protein coding RNA 1287 [Gene - HGNC]
  • LINC00244:long intergenic non-protein coding RNA 244 [Gene - HGNC]
  • LINC03010:long intergenic non-protein coding RNA 3010 [Gene - HGNC]
  • LINC00689:long intergenic non-protein coding RNA 689 [Gene - HGNC]
  • KMT2C:lysine methyltransferase 2C [Gene - OMIM - HGNC]
  • MIR153-2:microRNA 153-2 [Gene - HGNC]
  • MIR3907:microRNA 3907 [Gene - HGNC]
  • MIR5707:microRNA 5707 [Gene - HGNC]
  • MIR595:microRNA 595 [Gene - HGNC]
  • MIR671:microRNA 671 [Gene - OMIM - HGNC]
  • MNX1:motor neuron and pancreas homeobox 1 [Gene - OMIM - HGNC]
  • NUB1:negative regulator of ubiquitin like proteins 1 [Gene - OMIM - HGNC]
  • NOS3:nitric oxide synthase 3 [Gene - OMIM - HGNC]
  • NCAPG2:non-SMC condensin II complex subunit G2 [Gene - OMIM - HGNC]
  • NOM1:nucleolar protein with MIF4G domain 1 [Gene - OMIM - HGNC]
  • GALNT11:polypeptide N-acetylgalactosaminyltransferase 11 [Gene - OMIM - HGNC]
  • GALNTL5:polypeptide N-acetylgalactosaminyltransferase like 5 [Gene - OMIM - HGNC]
  • KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
  • PRKAG2:protein kinase AMP-activated non-catalytic subunit gamma 2 [Gene - OMIM - HGNC]
  • PTPRN2:protein tyrosine phosphatase receptor type N2 [Gene - OMIM - HGNC]
  • RNF32:ring finger protein 32 [Gene - OMIM - HGNC]
  • SLC4A2:solute carrier family 4 member 2 [Gene - OMIM - HGNC]
  • SHH:sonic hedgehog signaling molecule [Gene - OMIM - HGNC]
  • TMUB1:transmembrane and ubiquitin like domain containing 1 [Gene - OMIM - HGNC]
  • TMEM176A:transmembrane protein 176A [Gene - OMIM - HGNC]
  • TMEM176B:transmembrane protein 176B [Gene - OMIM - HGNC]
  • UBE3C:ubiquitin protein ligase E3C [Gene - OMIM - HGNC]
  • LOC101927914:uncharacterized LOC101927914 [Gene]
  • LOC101929998:uncharacterized LOC101929998 [Gene]
  • LOC105375589:uncharacterized LOC105375589 [Gene]
  • LOC105375610:uncharacterized LOC105375610 [Gene]
  • LOC128092247:uncharacterized LOC128092247 [Gene]
  • LOC285889:uncharacterized LOC285889 [Gene]
  • LOC389602:uncharacterized LOC389602 [Gene]
  • VIPR2:vasoactive intestinal peptide receptor 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7q36.1-36.3
Genomic location:
Preferred name:
GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1
HGVS:
  • NC_000007.14:g.(?_150486071)_(159335865_?)del
  • NC_000007.12:g.(?_149814092)_(158821316_?)del
  • NC_000007.13:g.(?_150183159)_(159128555_?)del
Links:
dbVar: nssv707022; dbVar: nsv533385
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
SCV000176135ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(Nov 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 4, SCV000176135.3

#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