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GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 19, 2013
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:
RCV000139902.5

Allele description [Variation Report for GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3]

GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3

Genes:
  • ADAM15:ADAM metallopeptidase domain 15 [Gene - OMIM - HGNC]
  • ADAM15-EFNA4:ADAM15-EFNA4 readthrough [Gene]
  • ARHGEF2-AS2:ARHGEF2 antisense RNA 2 [Gene - HGNC]
  • ASH1L:ASH1 like histone lysine methyltransferase [Gene - OMIM - HGNC]
  • ASH1L-AS1:ASH1L antisense RNA 1 [Gene - HGNC]
  • LOC129931513:ATAC-STARR-seq lymphoblastoid active region 1780 [Gene]
  • LOC129931514:ATAC-STARR-seq lymphoblastoid active region 1781 [Gene]
  • LOC129931515:ATAC-STARR-seq lymphoblastoid active region 1782 [Gene]
  • LOC129931518:ATAC-STARR-seq lymphoblastoid active region 1783 [Gene]
  • LOC129931519:ATAC-STARR-seq lymphoblastoid active region 1784 [Gene]
  • LOC129931520:ATAC-STARR-seq lymphoblastoid active region 1785 [Gene]
  • LOC129931521:ATAC-STARR-seq lymphoblastoid active region 1786 [Gene]
  • LOC129931522:ATAC-STARR-seq lymphoblastoid active region 1788 [Gene]
  • LOC129931523:ATAC-STARR-seq lymphoblastoid active region 1789 [Gene]
  • LOC129931525:ATAC-STARR-seq lymphoblastoid active region 1795 [Gene]
  • LOC129931526:ATAC-STARR-seq lymphoblastoid active region 1796 [Gene]
  • LOC129931527:ATAC-STARR-seq lymphoblastoid active region 1798 [Gene]
  • LOC129931529:ATAC-STARR-seq lymphoblastoid active region 1799 [Gene]
  • LOC129931530:ATAC-STARR-seq lymphoblastoid active region 1800 [Gene]
  • LOC129931536:ATAC-STARR-seq lymphoblastoid active region 1802 [Gene]
  • LOC129931541:ATAC-STARR-seq lymphoblastoid active region 1803 [Gene]
  • LOC129931545:ATAC-STARR-seq lymphoblastoid active region 1804 [Gene]
  • LOC129931546:ATAC-STARR-seq lymphoblastoid active region 1805 [Gene]
  • LOC129931551:ATAC-STARR-seq lymphoblastoid active region 1806 [Gene]
  • LOC129931553:ATAC-STARR-seq lymphoblastoid active region 1807 [Gene]
  • LOC129931554:ATAC-STARR-seq lymphoblastoid active region 1808 [Gene]
  • LOC129931556:ATAC-STARR-seq lymphoblastoid active region 1809 [Gene]
  • LOC129931559:ATAC-STARR-seq lymphoblastoid active region 1812 [Gene]
  • LOC129931560:ATAC-STARR-seq lymphoblastoid active region 1813 [Gene]
  • LOC129931561:ATAC-STARR-seq lymphoblastoid active region 1814 [Gene]
  • LOC129931568:ATAC-STARR-seq lymphoblastoid active region 1815 [Gene]
  • LOC129931570:ATAC-STARR-seq lymphoblastoid active region 1817 [Gene]
  • LOC129931572:ATAC-STARR-seq lymphoblastoid active region 1818 [Gene]
  • LOC129931573:ATAC-STARR-seq lymphoblastoid active region 1819 [Gene]
  • LOC129931574:ATAC-STARR-seq lymphoblastoid active region 1820 [Gene]
  • LOC129931575:ATAC-STARR-seq lymphoblastoid active region 1821 [Gene]
  • LOC129931576:ATAC-STARR-seq lymphoblastoid active region 1822 [Gene]
  • LOC129931578:ATAC-STARR-seq lymphoblastoid active region 1825 [Gene]
  • LOC129931579:ATAC-STARR-seq lymphoblastoid active region 1826 [Gene]
  • LOC129931580:ATAC-STARR-seq lymphoblastoid active region 1827 [Gene]
  • LOC129931581:ATAC-STARR-seq lymphoblastoid active region 1828 [Gene]
  • LOC129931582:ATAC-STARR-seq lymphoblastoid active region 1829 [Gene]
  • LOC129931585:ATAC-STARR-seq lymphoblastoid active region 1830 [Gene]
  • LOC129931586:ATAC-STARR-seq lymphoblastoid active region 1832 [Gene]
  • LOC129931587:ATAC-STARR-seq lymphoblastoid active region 1833 [Gene]
  • LOC129931588:ATAC-STARR-seq lymphoblastoid active region 1834 [Gene]
  • LOC129931593:ATAC-STARR-seq lymphoblastoid active region 1835 [Gene]
  • LOC129931594:ATAC-STARR-seq lymphoblastoid active region 1836 [Gene]
  • LOC129931595:ATAC-STARR-seq lymphoblastoid active region 1838 [Gene]
  • LOC129931598:ATAC-STARR-seq lymphoblastoid active region 1843 [Gene]
  • LOC129931599:ATAC-STARR-seq lymphoblastoid active region 1845 [Gene]
  • LOC129931600:ATAC-STARR-seq lymphoblastoid active region 1846 [Gene]
  • LOC129931601:ATAC-STARR-seq lymphoblastoid active region 1847 [Gene]
  • LOC129931602:ATAC-STARR-seq lymphoblastoid active region 1848 [Gene]
  • LOC129931603:ATAC-STARR-seq lymphoblastoid active region 1849 [Gene]
  • LOC129931604:ATAC-STARR-seq lymphoblastoid active region 1850 [Gene]
  • LOC129931605:ATAC-STARR-seq lymphoblastoid active region 1851 [Gene]
  • LOC129931606:ATAC-STARR-seq lymphoblastoid active region 1852 [Gene]
  • LOC129931607:ATAC-STARR-seq lymphoblastoid active region 1853 [Gene]
  • LOC129931608:ATAC-STARR-seq lymphoblastoid active region 1854 [Gene]
  • LOC129931609:ATAC-STARR-seq lymphoblastoid active region 1855 [Gene]
  • LOC129931610:ATAC-STARR-seq lymphoblastoid active region 1856 [Gene]
  • LOC129931612:ATAC-STARR-seq lymphoblastoid active region 1857 [Gene]
  • LOC129931616:ATAC-STARR-seq lymphoblastoid active region 1858 [Gene]
  • LOC129931617:ATAC-STARR-seq lymphoblastoid active region 1859 [Gene]
  • LOC129931620:ATAC-STARR-seq lymphoblastoid active region 1860 [Gene]
  • LOC129931621:ATAC-STARR-seq lymphoblastoid active region 1861 [Gene]
  • LOC129931622:ATAC-STARR-seq lymphoblastoid active region 1863 [Gene]
  • LOC129931623:ATAC-STARR-seq lymphoblastoid active region 1864 [Gene]
  • LOC129931624:ATAC-STARR-seq lymphoblastoid active region 1865 [Gene]
  • LOC129931625:ATAC-STARR-seq lymphoblastoid active region 1866 [Gene]
  • LOC129931626:ATAC-STARR-seq lymphoblastoid active region 1867 [Gene]
  • LOC129931629:ATAC-STARR-seq lymphoblastoid active region 1868 [Gene]
  • LOC129931630:ATAC-STARR-seq lymphoblastoid active region 1869 [Gene]
  • LOC129931631:ATAC-STARR-seq lymphoblastoid active region 1870 [Gene]
  • LOC129931633:ATAC-STARR-seq lymphoblastoid active region 1871 [Gene]
  • LOC129931634:ATAC-STARR-seq lymphoblastoid active region 1872 [Gene]
  • LOC129931635:ATAC-STARR-seq lymphoblastoid active region 1873 [Gene]
  • LOC129931636:ATAC-STARR-seq lymphoblastoid active region 1874 [Gene]
  • LOC129931640:ATAC-STARR-seq lymphoblastoid active region 1877 [Gene]
  • LOC129931641:ATAC-STARR-seq lymphoblastoid active region 1878 [Gene]
  • LOC129931643:ATAC-STARR-seq lymphoblastoid active region 1882 [Gene]
  • LOC129931644:ATAC-STARR-seq lymphoblastoid active region 1883 [Gene]
  • LOC129931645:ATAC-STARR-seq lymphoblastoid active region 1884 [Gene]
  • LOC129931646:ATAC-STARR-seq lymphoblastoid active region 1885 [Gene]
  • LOC129931652:ATAC-STARR-seq lymphoblastoid active region 1886 [Gene]
  • LOC129931653:ATAC-STARR-seq lymphoblastoid active region 1887 [Gene]
  • LOC129931655:ATAC-STARR-seq lymphoblastoid active region 1888 [Gene]
  • LOC129931656:ATAC-STARR-seq lymphoblastoid active region 1889 [Gene]
  • LOC129931657:ATAC-STARR-seq lymphoblastoid active region 1890 [Gene]
  • LOC129931658:ATAC-STARR-seq lymphoblastoid active region 1891 [Gene]
  • LOC129931659:ATAC-STARR-seq lymphoblastoid active region 1892 [Gene]
  • LOC129931511:ATAC-STARR-seq lymphoblastoid silent region 1363 [Gene]
  • LOC129931512:ATAC-STARR-seq lymphoblastoid silent region 1364 [Gene]
  • LOC129931516:ATAC-STARR-seq lymphoblastoid silent region 1365 [Gene]
  • LOC129931517:ATAC-STARR-seq lymphoblastoid silent region 1366 [Gene]
  • LOC129931524:ATAC-STARR-seq lymphoblastoid silent region 1368 [Gene]
  • LOC129931528:ATAC-STARR-seq lymphoblastoid silent region 1371 [Gene]
  • LOC129931531:ATAC-STARR-seq lymphoblastoid silent region 1375 [Gene]
  • LOC129931532:ATAC-STARR-seq lymphoblastoid silent region 1376 [Gene]
  • LOC129931533:ATAC-STARR-seq lymphoblastoid silent region 1377 [Gene]
  • LOC129931534:ATAC-STARR-seq lymphoblastoid silent region 1378 [Gene]
  • LOC129931535:ATAC-STARR-seq lymphoblastoid silent region 1379 [Gene]
  • LOC129931537:ATAC-STARR-seq lymphoblastoid silent region 1383 [Gene]
  • LOC129931538:ATAC-STARR-seq lymphoblastoid silent region 1384 [Gene]
  • LOC129931539:ATAC-STARR-seq lymphoblastoid silent region 1385 [Gene]
  • LOC129931540:ATAC-STARR-seq lymphoblastoid silent region 1386 [Gene]
  • LOC129931542:ATAC-STARR-seq lymphoblastoid silent region 1387 [Gene]
  • LOC129931543:ATAC-STARR-seq lymphoblastoid silent region 1388 [Gene]
  • LOC129931544:ATAC-STARR-seq lymphoblastoid silent region 1389 [Gene]
  • LOC129931547:ATAC-STARR-seq lymphoblastoid silent region 1390 [Gene]
  • LOC129931548:ATAC-STARR-seq lymphoblastoid silent region 1391 [Gene]
  • LOC129931549:ATAC-STARR-seq lymphoblastoid silent region 1392 [Gene]
  • LOC129931550:ATAC-STARR-seq lymphoblastoid silent region 1393 [Gene]
  • LOC129931552:ATAC-STARR-seq lymphoblastoid silent region 1394 [Gene]
  • LOC129931555:ATAC-STARR-seq lymphoblastoid silent region 1395 [Gene]
  • LOC129931557:ATAC-STARR-seq lymphoblastoid silent region 1397 [Gene]
  • LOC129931558:ATAC-STARR-seq lymphoblastoid silent region 1398 [Gene]
  • LOC129931562:ATAC-STARR-seq lymphoblastoid silent region 1400 [Gene]
  • LOC129931563:ATAC-STARR-seq lymphoblastoid silent region 1401 [Gene]
  • LOC129931564:ATAC-STARR-seq lymphoblastoid silent region 1402 [Gene]
  • LOC129931565:ATAC-STARR-seq lymphoblastoid silent region 1403 [Gene]
  • LOC129931566:ATAC-STARR-seq lymphoblastoid silent region 1404 [Gene]
  • LOC129931567:ATAC-STARR-seq lymphoblastoid silent region 1405 [Gene]
  • LOC129931569:ATAC-STARR-seq lymphoblastoid silent region 1406 [Gene]
  • LOC129931571:ATAC-STARR-seq lymphoblastoid silent region 1407 [Gene]
  • LOC129931577:ATAC-STARR-seq lymphoblastoid silent region 1410 [Gene]
  • LOC129931583:ATAC-STARR-seq lymphoblastoid silent region 1411 [Gene]
  • LOC129931584:ATAC-STARR-seq lymphoblastoid silent region 1412 [Gene]
  • LOC129931589:ATAC-STARR-seq lymphoblastoid silent region 1414 [Gene]
  • LOC129931590:ATAC-STARR-seq lymphoblastoid silent region 1415 [Gene]
  • LOC129931591:ATAC-STARR-seq lymphoblastoid silent region 1416 [Gene]
  • LOC129931592:ATAC-STARR-seq lymphoblastoid silent region 1417 [Gene]
  • LOC129931596:ATAC-STARR-seq lymphoblastoid silent region 1420 [Gene]
  • LOC129931597:ATAC-STARR-seq lymphoblastoid silent region 1421 [Gene]
  • LOC129931611:ATAC-STARR-seq lymphoblastoid silent region 1422 [Gene]
  • LOC129931613:ATAC-STARR-seq lymphoblastoid silent region 1423 [Gene]
  • LOC129931614:ATAC-STARR-seq lymphoblastoid silent region 1424 [Gene]
  • LOC129931615:ATAC-STARR-seq lymphoblastoid silent region 1425 [Gene]
  • LOC129931618:ATAC-STARR-seq lymphoblastoid silent region 1426 [Gene]
  • LOC129931619:ATAC-STARR-seq lymphoblastoid silent region 1427 [Gene]
  • LOC129931627:ATAC-STARR-seq lymphoblastoid silent region 1428 [Gene]
  • LOC129931628:ATAC-STARR-seq lymphoblastoid silent region 1429 [Gene]
  • LOC129931632:ATAC-STARR-seq lymphoblastoid silent region 1430 [Gene]
  • LOC129931637:ATAC-STARR-seq lymphoblastoid silent region 1432 [Gene]
  • LOC129931638:ATAC-STARR-seq lymphoblastoid silent region 1433 [Gene]
  • LOC129931639:ATAC-STARR-seq lymphoblastoid silent region 1434 [Gene]
  • LOC129931642:ATAC-STARR-seq lymphoblastoid silent region 1438 [Gene]
  • LOC129931647:ATAC-STARR-seq lymphoblastoid silent region 1439 [Gene]
  • LOC129931648:ATAC-STARR-seq lymphoblastoid silent region 1440 [Gene]
  • LOC129931649:ATAC-STARR-seq lymphoblastoid silent region 1441 [Gene]
  • LOC129931650:ATAC-STARR-seq lymphoblastoid silent region 1442 [Gene]
  • LOC129931651:ATAC-STARR-seq lymphoblastoid silent region 1443 [Gene]
  • LOC129931654:ATAC-STARR-seq lymphoblastoid silent region 1446 [Gene]
  • BCAN-AS1:BCAN antisense RNA 1 [Gene - HGNC]
  • BCAN-AS2:BCAN antisense RNA 2 [Gene - HGNC]
  • LOC110013312:BGLAP promoter region [Gene]
  • LOC126805879:BRD4-independent group 4 enhancer GRCh37_chr1:157279563-157280762 [Gene]
  • LOC126805882:BRD4-independent group 4 enhancer GRCh37_chr1:157593763-157594962 [Gene]
  • CLK2:CDC like kinase 2 [Gene - OMIM - HGNC]
  • CKS1B:CDC28 protein kinase regulatory subunit 1B [Gene - OMIM - HGNC]
  • LOC126805874:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:154561176-154562375 [Gene]
  • LOC126805875:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:154708837-154710036 [Gene]
  • LOC122128443:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:155931313-155932512 [Gene]
  • LOC126805878:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:156865761-156866960 [Gene]
  • LOC126805880:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:157489840-157491039 [Gene]
  • LOC126805881:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:157556896-157558095 [Gene]
  • LOC115801448:CRISPRi-validated cis-regulatory element chr1.9068 [Gene]
  • LOC115801449:CRISPRi-validated cis-regulatory element chr1.9249 [Gene]
  • DCST1:DC-STAMP domain containing 1 [Gene - OMIM - HGNC]
  • DCST2:DC-STAMP domain containing 2 [Gene - OMIM - HGNC]
  • DCST1-AS1:DCST1 antisense RNA 1 [Gene - HGNC]
  • EFNA4-EFNA3:EFNA4-EFNA3 readthrough [Gene]
  • ETV3L:ETS variant transcription factor 3 like [Gene - HGNC]
  • ETV3:ETS variant transcription factor 3 [Gene - OMIM - HGNC]
  • FCRL4:Fc receptor like 4 [Gene - OMIM - HGNC]
  • FCRL5:Fc receptor like 5 [Gene - OMIM - HGNC]
  • GPATCH4:G-patch domain containing 4 (gene/pseudogene) [Gene - HGNC]
  • LOC106627981:GBA recombination region [Gene]
  • LOC106627982:GBAP1 recombination region [Gene]
  • LOC122128444:H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:156045982-156046889 and GRCh37_chr1:156046890-156047796 [Gene]
  • IQGAP3:IQ motif containing GTPase activating protein 3 [Gene - HGNC]
  • KHDC4:KH domain containing 4, pre-mRNA splicing factor [Gene - OMIM - HGNC]
  • LOC126805876:MED14-independent group 3 enhancer GRCh37_chr1:155903710-155904909 [Gene]
  • LOC126805877:MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 [Gene]
  • MIR9-1HG:MIR9-1 host gene [Gene - OMIM - HGNC]
  • LOC129388611:MPRA-validated peak419 silencer [Gene]
  • LOC129388612:MPRA-validated peak424 silencer [Gene]
  • LOC129388613:MPRA-validated peak427 silencer [Gene]
  • NAXE:NAD(P)HX epimerase [Gene - OMIM - HGNC]
  • PBXIP1:PBX homeobox interacting protein 1 [Gene - OMIM - HGNC]
  • PMF1-BGLAP:PMF1-BGLAP readthrough [Gene - HGNC]
  • PYGO2-AS1:PYGO2 and SHC1 antisense RNA 1 [Gene - HGNC]
  • RAB25:RAB25, member RAS oncogene family [Gene - OMIM - HGNC]
  • RUSC1:RUN and SH3 domain containing 1 [Gene - OMIM - HGNC]
  • RUSC1-AS1:RUSC1 antisense RNA 1 [Gene - HGNC]
  • RIT1:Ras like without CAAX 1 [Gene - OMIM - HGNC]
  • RHBG:Rh family B glycoprotein [Gene - OMIM - HGNC]
  • ARHGEF11:Rho guanine nucleotide exchange factor 11 [Gene - OMIM - HGNC]
  • ARHGEF2:Rho/Rac guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
  • SH2D2A:SH2 domain containing 2A [Gene - OMIM - HGNC]
  • SHC1:SHC adaptor protein 1 [Gene - OMIM - HGNC]
  • SMG5:SMG5 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
  • LOC122128438:Sharpr-MPRA regulatory region 11909 [Gene]
  • LOC122128449:Sharpr-MPRA regulatory region 11922 [Gene]
  • LOC121725059:Sharpr-MPRA regulatory region 15377 [Gene]
  • LOC122128446:Sharpr-MPRA regulatory region 198 [Gene]
  • LOC122128442:Sharpr-MPRA regulatory region 2022 [Gene]
  • LOC122128445:Sharpr-MPRA regulatory region 3040 [Gene]
  • LOC120893163:Sharpr-MPRA regulatory region 3718 [Gene]
  • LOC120893162:Sharpr-MPRA regulatory region 4592 [Gene]
  • LOC112577495:Sharpr-MPRA regulatory region 4766 [Gene]
  • LOC122128447:Sharpr-MPRA regulatory region 4951 [Gene]
  • LOC122128450:Sharpr-MPRA regulatory region 527 [Gene]
  • LOC122128448:Sharpr-MPRA regulatory region 5756 [Gene]
  • LOC122128435:Sharpr-MPRA regulatory region 5811 [Gene]
  • LOC122128436:Sharpr-MPRA regulatory region 6409 [Gene]
  • LOC120893161:Sharpr-MPRA regulatory region 6464 [Gene]
  • LOC122128440:Sharpr-MPRA regulatory region 723 [Gene]
  • LOC122128441:Sharpr-MPRA regulatory region 7686 [Gene]
  • LOC122128437:Sharpr-MPRA regulatory region 7923 [Gene]
  • LOC122128439:Sharpr-MPRA regulatory region 7926 [Gene]
  • LOC111828496:Sharpr-MPRA regulatory regions 9834 and 13552 [Gene]
  • THBS3-AS1:THBS3 antisense RNA 1 [Gene - HGNC]
  • TSACC:TSSK6 activating cochaperone [Gene - OMIM - HGNC]
  • VHLL:VHL like [Gene - OMIM - HGNC]
  • LOC110121221:VISTA enhancer hs1891 [Gene]
  • LOC110121262:VISTA enhancer hs2129 [Gene]
  • YY1AP1:YY1 associated protein 1 [Gene - OMIM - HGNC]
  • ADAR:adenosine deaminase RNA specific [Gene - OMIM - HGNC]
  • BGLAP:bone gamma-carboxyglutamate protein [Gene - OMIM - HGNC]
  • BCAN:brevican [Gene - OMIM - HGNC]
  • CRABP2:cellular retinoic acid binding protein 2 [Gene - OMIM - HGNC]
  • CCT3:chaperonin containing TCP1 subunit 3 [Gene - OMIM - HGNC]
  • CHRNB2:cholinergic receptor nicotinic beta 2 subunit [Gene - OMIM - HGNC]
  • DAP3:death associated protein 3 [Gene - OMIM - HGNC]
  • DPM3:dolichyl-phosphate mannosyltransferase subunit 3, regulatory [Gene - OMIM - HGNC]
  • ENTREP3:endosomal transmembrane epsin interactor 3 [Gene - OMIM - HGNC]
  • EFNA1:ephrin A1 [Gene - OMIM - HGNC]
  • EFNA3:ephrin A3 [Gene - OMIM - HGNC]
  • EFNA4:ephrin A4 [Gene - OMIM - HGNC]
  • FDPS:farnesyl diphosphate synthase [Gene - OMIM - HGNC]
  • FLAD1:flavin adenine dinucleotide synthetase 1 [Gene - OMIM - HGNC]
  • GBA1:glucosylceramidase beta 1 [Gene - OMIM - HGNC]
  • GLMP:glycosylated lysosomal membrane protein [Gene - OMIM - HGNC]
  • GON4L:gon-4 like [Gene - OMIM - HGNC]
  • HDGF:heparin binding growth factor [Gene - OMIM - HGNC]
  • HAPLN2:hyaluronan and proteoglycan link protein 2 [Gene - OMIM - HGNC]
  • HCN3:hyperpolarization activated cyclic nucleotide gated potassium channel 3 [Gene - OMIM - HGNC]
  • INSRR:insulin receptor related receptor [Gene - OMIM - HGNC]
  • ISG20L2:interferon stimulated exonuclease gene 20 like 2 [Gene - OMIM - HGNC]
  • KRTCAP2:keratinocyte associated protein 2 [Gene - OMIM - HGNC]
  • LMNA:lamin A/C [Gene - OMIM - HGNC]
  • LAMTOR2:late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 [Gene - OMIM - HGNC]
  • LENEP:lens epithelial protein [Gene - OMIM - HGNC]
  • LRRC71:leucine rich repeat containing 71 [Gene - HGNC]
  • LINC02772:long intergenic non-protein coding RNA 2772 [Gene - HGNC]
  • LOC128772231:melanoma risk locus-associated MPRA allelic enhancer 1:154989823 [Gene]
  • MTX1:metaxin 1 [Gene - OMIM - HGNC]
  • METTL25B:methyltransferase like 25B [Gene - HGNC]
  • MEX3A:mex-3 RNA binding family member A [Gene - OMIM - HGNC]
  • MIR4258:microRNA 4258 [Gene - HGNC]
  • MIR555:microRNA 555 [Gene - HGNC]
  • MIR6738:microRNA 6738 [Gene - HGNC]
  • MIR765:microRNA 765 [Gene - HGNC]
  • MIR9-1:microRNA 9-1 [Gene - OMIM - HGNC]
  • MIR92B:microRNA 92b [Gene - HGNC]
  • MSTO1:misato mitochondrial distribution and morphology regulator 1 [Gene - OMIM - HGNC]
  • MRPL24:mitochondrial ribosomal protein L24 [Gene - OMIM - HGNC]
  • MUC1:mucin 1, cell surface associated [Gene - OMIM - HGNC]
  • MEF2D:myocyte enhancer factor 2D [Gene - OMIM - HGNC]
  • NES:nestin [Gene - OMIM - HGNC]
  • NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
  • PMVK:phosphomevalonate kinase [Gene - OMIM - HGNC]
  • PEAR1:platelet endothelial aggregation receptor 1 [Gene - OMIM - HGNC]
  • PMF1:polyamine modulated factor 1 [Gene - OMIM - HGNC]
  • KCNN3:potassium calcium-activated channel subfamily N member 3 [Gene - OMIM - HGNC]
  • PAQR6:progestin and adipoQ receptor family member 6 [Gene - OMIM - HGNC]
  • PRCC:proline rich mitotic checkpoint control factor [Gene - OMIM - HGNC]
  • PYGO2:pygopus family PHD finger 2 [Gene - OMIM - HGNC]
  • PKLR:pyruvate kinase L/R [Gene - OMIM - HGNC]
  • RXFP4:relaxin family peptide/INSL5 receptor 4 [Gene - OMIM - HGNC]
  • SCAMP3:secretory carrier membrane protein 3 [Gene - OMIM - HGNC]
  • SEMA4A:semaphorin 4A [Gene - OMIM - HGNC]
  • SSR2:signal sequence receptor subunit 2 [Gene - OMIM - HGNC]
  • SCARNA26A:small Cajal body-specific RNA 26A [Gene - HGNC]
  • SCARNA26B:small Cajal body-specific RNA 26B [Gene - HGNC]
  • SCARNA4:small Cajal body-specific RNA 4 [Gene - HGNC]
  • SNORA80E:small nucleolar RNA, H/ACA box 80E [Gene - HGNC]
  • SLC25A44:solute carrier family 25 member 44 [Gene - OMIM - HGNC]
  • SLC50A1:solute carrier family 50 member 1 [Gene - OMIM - HGNC]
  • SYT11:synaptotagmin 11 [Gene - OMIM - HGNC]
  • TTC24:tetratricopeptide repeat domain 24 [Gene - HGNC]
  • THBS3:thrombospondin 3 [Gene - OMIM - HGNC]
  • TMEM79:transmembrane protein 79 [Gene - OMIM - HGNC]
  • TRIM46:tripartite motif containing 46 [Gene - OMIM - HGNC]
  • UBQLN4:ubiquilin 4 [Gene - OMIM - HGNC]
  • LOC101928177:uncharacterized LOC101928177 [Gene]
  • ZBTB7B:zinc finger and BTB domain containing 7B [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1q21.3-23.1
Genomic location:
Preferred name:
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3
HGVS:
  • NC_000001.11:g.(?_154566501)_(157624084_?)dup
  • NC_000001.10:g.(?_154538977)_(157593874_?)dup
Links:
dbVar: nssv1608266; dbVar: nsv931044
Observations:
1

Condition(s)

Name:
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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000180543ISCA site 1

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no assertion criteria provided
Pathogenic
(Mar 19, 2013) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

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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 1, SCV000180543.4

#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