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GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000052163.7

Allele description [Variation Report for GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1]

GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1

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]
  • 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]
  • 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]
  • LOC126859550:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:1066368-1067567 [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]
  • 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]
  • ECI2-DT:ECI2 divergent transcript [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]
  • LYRM4:LYR motif containing 4 [Gene - OMIM - HGNC]
  • LYRM4-AS1:LYRM4 antisense RNA 1 [Gene - HGNC]
  • 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]
  • 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]
  • NQO2:N-ribosyldihydronicotinamide:quinone dehydrogenase 2 [Gene - OMIM - HGNC]
  • NQO2-AS1:NQO2 antisense RNA 1 [Gene - HGNC]
  • LOC129995597:Neanderthal introgressed variant-containing enhancer experimental_90995 [Gene]
  • LOC123575642:OCT4-NANOG-H3K4me1 hESC enhancers GRCh37_chr6:829333-829880 and GRCh37_chr6:829881-830426 [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]
  • PXDC1:PX domain containing 1 [Gene - 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]
  • LOC123575656:Sharpr-MPRA regulatory region 10864 [Gene]
  • LOC123575652:Sharpr-MPRA regulatory region 12113 [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]
  • LOC123575659:Sharpr-MPRA regulatory region 14796 [Gene]
  • LOC123575661:Sharpr-MPRA regulatory region 15549 [Gene]
  • LOC123575657:Sharpr-MPRA regulatory region 15708 [Gene]
  • LOC123575654:Sharpr-MPRA regulatory region 2334 [Gene]
  • LOC113174998:Sharpr-MPRA regulatory region 2502 [Gene]
  • LOC123575660:Sharpr-MPRA regulatory region 2533 [Gene]
  • LOC121099720:Sharpr-MPRA regulatory region 2671 [Gene]
  • LOC113174976:Sharpr-MPRA regulatory region 3200 [Gene]
  • LOC113174986:Sharpr-MPRA regulatory region 3383 [Gene]
  • LOC113174977:Sharpr-MPRA regulatory region 3960 [Gene]
  • LOC121099722:Sharpr-MPRA regulatory region 4425 [Gene]
  • LOC113174999:Sharpr-MPRA regulatory region 4929 [Gene]
  • LOC123575643:Sharpr-MPRA regulatory region 5333 [Gene]
  • LOC123575653:Sharpr-MPRA regulatory region 5686 [Gene]
  • LOC121740637:Sharpr-MPRA regulatory region 6592 [Gene]
  • LOC121099719:Sharpr-MPRA regulatory region 6984 [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]
  • LOC110121091:VISTA enhancer hs1391 [Gene]
  • LOC110121246:VISTA enhancer hs2060 [Gene]
  • WRNIP1:WRN helicase interacting protein 1 [Gene - OMIM - HGNC]
  • BPHL:biphenyl hydrolase like [Gene - OMIM - HGNC]
  • CDYL:chromodomain Y like [Gene - OMIM - HGNC]
  • C6orf201:chromosome 6 open reading frame 201 [Gene - HGNC]
  • F13A1:coagulation factor XIII A chain [Gene - OMIM - HGNC]
  • DUSP22:dual specificity phosphatase 22 [Gene - OMIM - HGNC]
  • ECI2:enoyl-CoA delta isomerase 2 [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]
  • 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]
  • IRF4:interferon regulatory factor 4 [Gene - OMIM - 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]
  • 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]
  • MIR3691:microRNA 3691 [Gene - HGNC]
  • MIR4645:microRNA 4645 [Gene - HGNC]
  • MIR5683:microRNA 5683 [Gene - HGNC]
  • MIR6720:microRNA 6720 [Gene - HGNC]
  • MIR7853:microRNA 7853 [Gene - HGNC]
  • MYLK4:myosin light chain kinase family member 4 [Gene - HGNC]
  • NRN1:neuritin 1 [Gene - OMIM - HGNC]
  • LOC106794091:nonconserved acetylation island sequence 71 enhancer [Gene]
  • FARS2:phenylalanyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • PRPF4B:pre-mRNA processing factor 4B [Gene - OMIM - HGNC]
  • PSMG4:proteasome assembly chaperone 4 [Gene - OMIM - HGNC]
  • PPP1R3G:protein phosphatase 1 regulatory subunit 3G [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]
  • SLC22A23:solute carrier family 22 member 23 [Gene - OMIM - HGNC]
  • TUBB2A:tubulin beta 2A class IIa [Gene - OMIM - HGNC]
  • TUBB2B:tubulin beta 2B class IIb [Gene - OMIM - HGNC]
  • LOC100422781:uncharacterized LOC100422781 [Gene]
  • LOC100507336:uncharacterized LOC100507336 [Gene]
  • LOC101927691:uncharacterized LOC101927691 [Gene]
  • LOC101927759:uncharacterized LOC101927759 [Gene]
  • LOC101927888:uncharacterized LOC101927888 [Gene]
  • LOC101927950:uncharacterized LOC101927950 [Gene]
  • LOC102724096:uncharacterized LOC102724096 [Gene]
  • KU-MEL-3:uncharacterized LOC497048 [Gene]
  • LOC643327:uncharacterized LOC643327 [Gene]
Variant type:
copy number loss
Cytogenetic location:
6p25.3-25.1
Genomic location:
Preferred name:
GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1
HGVS:
  • NC_000006.12:g.(?_164633)_(6284237_?)del
  • NC_000006.10:g.(?_109633)_(6229469_?)del
  • NC_000006.11:g.(?_164633)_(6284470_?)del
Links:
dbVar: nssv578105; dbVar: nsv530874
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000079512ISCA Site 6

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical 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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA Site 6, SCV000079512.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023