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GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)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:
RCV000051172.6

Allele description [Variation Report for GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1]

GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1

Genes:
  • ADAMTS4:ADAM metallopeptidase with thrombospondin type 1 motif 4 [Gene - OMIM - HGNC]
  • LOC129931680:ATAC-STARR-seq lymphoblastoid active region 1905 [Gene]
  • LOC129931681:ATAC-STARR-seq lymphoblastoid active region 1906 [Gene]
  • LOC129931682:ATAC-STARR-seq lymphoblastoid active region 1907 [Gene]
  • LOC129931683:ATAC-STARR-seq lymphoblastoid active region 1908 [Gene]
  • LOC129931684:ATAC-STARR-seq lymphoblastoid active region 1909 [Gene]
  • LOC129931685:ATAC-STARR-seq lymphoblastoid active region 1910 [Gene]
  • LOC129931686:ATAC-STARR-seq lymphoblastoid active region 1911 [Gene]
  • LOC129931688:ATAC-STARR-seq lymphoblastoid active region 1912 [Gene]
  • LOC129931690:ATAC-STARR-seq lymphoblastoid active region 1914 [Gene]
  • LOC129931691:ATAC-STARR-seq lymphoblastoid active region 1915 [Gene]
  • LOC129931692:ATAC-STARR-seq lymphoblastoid active region 1916 [Gene]
  • LOC129931695:ATAC-STARR-seq lymphoblastoid active region 1920 [Gene]
  • LOC129931696:ATAC-STARR-seq lymphoblastoid active region 1921 [Gene]
  • LOC129931697:ATAC-STARR-seq lymphoblastoid active region 1922 [Gene]
  • LOC129931698:ATAC-STARR-seq lymphoblastoid active region 1923 [Gene]
  • LOC129931699:ATAC-STARR-seq lymphoblastoid active region 1924 [Gene]
  • LOC129931700:ATAC-STARR-seq lymphoblastoid active region 1925 [Gene]
  • LOC129931701:ATAC-STARR-seq lymphoblastoid active region 1926 [Gene]
  • LOC129931702:ATAC-STARR-seq lymphoblastoid active region 1927 [Gene]
  • LOC129931703:ATAC-STARR-seq lymphoblastoid active region 1928 [Gene]
  • LOC129931704:ATAC-STARR-seq lymphoblastoid active region 1929 [Gene]
  • LOC129931705:ATAC-STARR-seq lymphoblastoid active region 1930 [Gene]
  • LOC129931706:ATAC-STARR-seq lymphoblastoid active region 1931 [Gene]
  • LOC129931708:ATAC-STARR-seq lymphoblastoid active region 1932 [Gene]
  • LOC129931709:ATAC-STARR-seq lymphoblastoid active region 1933 [Gene]
  • LOC129931710:ATAC-STARR-seq lymphoblastoid active region 1934 [Gene]
  • LOC129931711:ATAC-STARR-seq lymphoblastoid active region 1935 [Gene]
  • LOC129931712:ATAC-STARR-seq lymphoblastoid active region 1936 [Gene]
  • LOC129931713:ATAC-STARR-seq lymphoblastoid active region 1937 [Gene]
  • LOC129931714:ATAC-STARR-seq lymphoblastoid active region 1938 [Gene]
  • LOC129931715:ATAC-STARR-seq lymphoblastoid active region 1939 [Gene]
  • LOC129931716:ATAC-STARR-seq lymphoblastoid active region 1940 [Gene]
  • LOC129931717:ATAC-STARR-seq lymphoblastoid active region 1942 [Gene]
  • LOC129931718:ATAC-STARR-seq lymphoblastoid active region 1943 [Gene]
  • LOC129931719:ATAC-STARR-seq lymphoblastoid active region 1944 [Gene]
  • LOC129931720:ATAC-STARR-seq lymphoblastoid active region 1945 [Gene]
  • LOC129931721:ATAC-STARR-seq lymphoblastoid active region 1946 [Gene]
  • LOC129931722:ATAC-STARR-seq lymphoblastoid active region 1947 [Gene]
  • LOC129931723:ATAC-STARR-seq lymphoblastoid active region 1951 [Gene]
  • LOC129931724:ATAC-STARR-seq lymphoblastoid active region 1952 [Gene]
  • LOC129931726:ATAC-STARR-seq lymphoblastoid active region 1953 [Gene]
  • LOC129931728:ATAC-STARR-seq lymphoblastoid active region 1954 [Gene]
  • LOC129931729:ATAC-STARR-seq lymphoblastoid active region 1955 [Gene]
  • LOC129931730:ATAC-STARR-seq lymphoblastoid active region 1956 [Gene]
  • LOC129931731:ATAC-STARR-seq lymphoblastoid active region 1957 [Gene]
  • LOC129931732:ATAC-STARR-seq lymphoblastoid active region 1958 [Gene]
  • LOC129931733:ATAC-STARR-seq lymphoblastoid active region 1959 [Gene]
  • LOC129931734:ATAC-STARR-seq lymphoblastoid active region 1960 [Gene]
  • LOC129931735:ATAC-STARR-seq lymphoblastoid active region 1961 [Gene]
  • LOC129931736:ATAC-STARR-seq lymphoblastoid active region 1962 [Gene]
  • LOC129931737:ATAC-STARR-seq lymphoblastoid active region 1963 [Gene]
  • LOC129931738:ATAC-STARR-seq lymphoblastoid active region 1964 [Gene]
  • LOC129931739:ATAC-STARR-seq lymphoblastoid active region 1965 [Gene]
  • LOC129931740:ATAC-STARR-seq lymphoblastoid active region 1966 [Gene]
  • LOC129931741:ATAC-STARR-seq lymphoblastoid active region 1967 [Gene]
  • LOC129931742:ATAC-STARR-seq lymphoblastoid active region 1968 [Gene]
  • LOC129931743:ATAC-STARR-seq lymphoblastoid active region 1969 [Gene]
  • LOC129931744:ATAC-STARR-seq lymphoblastoid active region 1970 [Gene]
  • LOC129931745:ATAC-STARR-seq lymphoblastoid active region 1971 [Gene]
  • LOC129931746:ATAC-STARR-seq lymphoblastoid active region 1972 [Gene]
  • LOC129931747:ATAC-STARR-seq lymphoblastoid active region 1974 [Gene]
  • LOC129931748:ATAC-STARR-seq lymphoblastoid active region 1975 [Gene]
  • LOC129931751:ATAC-STARR-seq lymphoblastoid active region 1976 [Gene]
  • LOC129931753:ATAC-STARR-seq lymphoblastoid active region 1977 [Gene]
  • LOC129931756:ATAC-STARR-seq lymphoblastoid active region 1981 [Gene]
  • LOC129931757:ATAC-STARR-seq lymphoblastoid active region 1982 [Gene]
  • LOC129931758:ATAC-STARR-seq lymphoblastoid active region 1983 [Gene]
  • LOC129931760:ATAC-STARR-seq lymphoblastoid active region 1984 [Gene]
  • LOC129931761:ATAC-STARR-seq lymphoblastoid active region 1985 [Gene]
  • LOC129931762:ATAC-STARR-seq lymphoblastoid active region 1986 [Gene]
  • LOC129931763:ATAC-STARR-seq lymphoblastoid active region 1987 [Gene]
  • LOC129931764:ATAC-STARR-seq lymphoblastoid active region 1988 [Gene]
  • LOC129931765:ATAC-STARR-seq lymphoblastoid active region 1989 [Gene]
  • LOC129931767:ATAC-STARR-seq lymphoblastoid active region 1990 [Gene]
  • LOC129931769:ATAC-STARR-seq lymphoblastoid active region 1991 [Gene]
  • LOC129931771:ATAC-STARR-seq lymphoblastoid active region 1992 [Gene]
  • LOC129931775:ATAC-STARR-seq lymphoblastoid active region 1994 [Gene]
  • LOC129931776:ATAC-STARR-seq lymphoblastoid active region 1995 [Gene]
  • LOC129931778:ATAC-STARR-seq lymphoblastoid active region 1996 [Gene]
  • LOC129931779:ATAC-STARR-seq lymphoblastoid active region 1997 [Gene]
  • LOC129931780:ATAC-STARR-seq lymphoblastoid active region 1998 [Gene]
  • LOC129931784:ATAC-STARR-seq lymphoblastoid active region 1999 [Gene]
  • LOC129931785:ATAC-STARR-seq lymphoblastoid active region 2000 [Gene]
  • LOC129931786:ATAC-STARR-seq lymphoblastoid active region 2001 [Gene]
  • LOC129931787:ATAC-STARR-seq lymphoblastoid active region 2002 [Gene]
  • LOC129931788:ATAC-STARR-seq lymphoblastoid active region 2003 [Gene]
  • LOC129931789:ATAC-STARR-seq lymphoblastoid active region 2004 [Gene]
  • LOC129931790:ATAC-STARR-seq lymphoblastoid active region 2005 [Gene]
  • LOC129931791:ATAC-STARR-seq lymphoblastoid active region 2006 [Gene]
  • LOC129931792:ATAC-STARR-seq lymphoblastoid active region 2007 [Gene]
  • LOC129931794:ATAC-STARR-seq lymphoblastoid active region 2008 [Gene]
  • LOC129931801:ATAC-STARR-seq lymphoblastoid active region 2010 [Gene]
  • LOC129931802:ATAC-STARR-seq lymphoblastoid active region 2011 [Gene]
  • LOC129931804:ATAC-STARR-seq lymphoblastoid active region 2012 [Gene]
  • LOC129931805:ATAC-STARR-seq lymphoblastoid active region 2013 [Gene]
  • LOC129931806:ATAC-STARR-seq lymphoblastoid active region 2014 [Gene]
  • LOC129931811:ATAC-STARR-seq lymphoblastoid active region 2015 [Gene]
  • LOC129931813:ATAC-STARR-seq lymphoblastoid active region 2016 [Gene]
  • LOC129931814:ATAC-STARR-seq lymphoblastoid active region 2017 [Gene]
  • LOC129931815:ATAC-STARR-seq lymphoblastoid active region 2018 [Gene]
  • LOC129931816:ATAC-STARR-seq lymphoblastoid active region 2021 [Gene]
  • LOC129931818:ATAC-STARR-seq lymphoblastoid active region 2022 [Gene]
  • LOC129931823:ATAC-STARR-seq lymphoblastoid active region 2025 [Gene]
  • LOC129931825:ATAC-STARR-seq lymphoblastoid active region 2026 [Gene]
  • LOC129931830:ATAC-STARR-seq lymphoblastoid active region 2027 [Gene]
  • LOC129931678:ATAC-STARR-seq lymphoblastoid silent region 1454 [Gene]
  • LOC129931679:ATAC-STARR-seq lymphoblastoid silent region 1455 [Gene]
  • LOC129931687:ATAC-STARR-seq lymphoblastoid silent region 1457 [Gene]
  • LOC129931689:ATAC-STARR-seq lymphoblastoid silent region 1458 [Gene]
  • LOC129931693:ATAC-STARR-seq lymphoblastoid silent region 1459 [Gene]
  • LOC129931694:ATAC-STARR-seq lymphoblastoid silent region 1460 [Gene]
  • LOC129931707:ATAC-STARR-seq lymphoblastoid silent region 1461 [Gene]
  • LOC129931725:ATAC-STARR-seq lymphoblastoid silent region 1463 [Gene]
  • LOC129931727:ATAC-STARR-seq lymphoblastoid silent region 1464 [Gene]
  • LOC129931749:ATAC-STARR-seq lymphoblastoid silent region 1466 [Gene]
  • LOC129931750:ATAC-STARR-seq lymphoblastoid silent region 1467 [Gene]
  • LOC129931752:ATAC-STARR-seq lymphoblastoid silent region 1469 [Gene]
  • LOC129931754:ATAC-STARR-seq lymphoblastoid silent region 1470 [Gene]
  • LOC129931755:ATAC-STARR-seq lymphoblastoid silent region 1471 [Gene]
  • LOC129931759:ATAC-STARR-seq lymphoblastoid silent region 1474 [Gene]
  • LOC129931766:ATAC-STARR-seq lymphoblastoid silent region 1477 [Gene]
  • LOC129931768:ATAC-STARR-seq lymphoblastoid silent region 1479 [Gene]
  • LOC129931770:ATAC-STARR-seq lymphoblastoid silent region 1480 [Gene]
  • LOC129931772:ATAC-STARR-seq lymphoblastoid silent region 1481 [Gene]
  • LOC129931773:ATAC-STARR-seq lymphoblastoid silent region 1482 [Gene]
  • LOC129931774:ATAC-STARR-seq lymphoblastoid silent region 1483 [Gene]
  • LOC129931777:ATAC-STARR-seq lymphoblastoid silent region 1484 [Gene]
  • LOC129931781:ATAC-STARR-seq lymphoblastoid silent region 1485 [Gene]
  • LOC129931782:ATAC-STARR-seq lymphoblastoid silent region 1486 [Gene]
  • LOC129931783:ATAC-STARR-seq lymphoblastoid silent region 1487 [Gene]
  • LOC129931793:ATAC-STARR-seq lymphoblastoid silent region 1488 [Gene]
  • LOC129931795:ATAC-STARR-seq lymphoblastoid silent region 1489 [Gene]
  • LOC129931796:ATAC-STARR-seq lymphoblastoid silent region 1490 [Gene]
  • LOC129931797:ATAC-STARR-seq lymphoblastoid silent region 1491 [Gene]
  • LOC129931798:ATAC-STARR-seq lymphoblastoid silent region 1492 [Gene]
  • LOC129931799:ATAC-STARR-seq lymphoblastoid silent region 1493 [Gene]
  • LOC129931800:ATAC-STARR-seq lymphoblastoid silent region 1494 [Gene]
  • LOC129931803:ATAC-STARR-seq lymphoblastoid silent region 1495 [Gene]
  • LOC129931807:ATAC-STARR-seq lymphoblastoid silent region 1496 [Gene]
  • LOC129931808:ATAC-STARR-seq lymphoblastoid silent region 1497 [Gene]
  • LOC129931809:ATAC-STARR-seq lymphoblastoid silent region 1498 [Gene]
  • LOC129931810:ATAC-STARR-seq lymphoblastoid silent region 1499 [Gene]
  • LOC129931812:ATAC-STARR-seq lymphoblastoid silent region 1500 [Gene]
  • LOC129931817:ATAC-STARR-seq lymphoblastoid silent region 1502 [Gene]
  • LOC129931819:ATAC-STARR-seq lymphoblastoid silent region 1505 [Gene]
  • LOC129931820:ATAC-STARR-seq lymphoblastoid silent region 1506 [Gene]
  • LOC129931821:ATAC-STARR-seq lymphoblastoid silent region 1508 [Gene]
  • LOC129931822:ATAC-STARR-seq lymphoblastoid silent region 1509 [Gene]
  • LOC129931824:ATAC-STARR-seq lymphoblastoid silent region 1510 [Gene]
  • LOC129931826:ATAC-STARR-seq lymphoblastoid silent region 1511 [Gene]
  • LOC129931827:ATAC-STARR-seq lymphoblastoid silent region 1512 [Gene]
  • LOC129931828:ATAC-STARR-seq lymphoblastoid silent region 1513 [Gene]
  • LOC129931829:ATAC-STARR-seq lymphoblastoid silent region 1514 [Gene]
  • ATF6-DT:ATF6 divergent transcript [Gene - HGNC]
  • ATP1A2:ATPase Na+/K+ transporting subunit alpha 2 [Gene - OMIM - HGNC]
  • ATP1A4:ATPase Na+/K+ transporting subunit alpha 4 [Gene - OMIM - HGNC]
  • LOC126805892:BRD4-independent group 4 enhancer GRCh37_chr1:160460168-160461367 [Gene]
  • LOC126805893:BRD4-independent group 4 enhancer GRCh37_chr1:161015335-161016534 [Gene]
  • LOC108251792:BRD4-independent group 4 enhancer GRCh37_chr1:164717166-164718365 [Gene]
  • LOC126805898:BRD4-independent group 4 enhancer GRCh37_chr1:164892687-164893886 [Gene]
  • LOC126805900:BRD4-independent group 4 enhancer GRCh37_chr1:165867758-165868957 [Gene]
  • CRP:C-reactive protein [Gene - OMIM - HGNC]
  • CD244:CD244 molecule [Gene - OMIM - HGNC]
  • CD48:CD48 molecule [Gene - OMIM - HGNC]
  • CD84:CD84 molecule [Gene - OMIM - HGNC]
  • LOC126805887:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:159567451-159568650 [Gene]
  • LOC126805888:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:159859176-159860375 [Gene]
  • LOC126805890:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186 [Gene]
  • LOC126805891:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160143677-160144876 [Gene]
  • LOC126805895:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:162106088-162107287 [Gene]
  • LOC126805901:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:166009027-166010226 [Gene]
  • LOC126805902:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:166546309-166547508 [Gene]
  • COPA:COPI coat complex subunit alpha [Gene - OMIM - HGNC]
  • LOC115801452:CRISPRi-validated cis-regulatory element chr1.9322 [Gene]
  • LOC115801453:CRISPRi-validated cis-regulatory element chr1.9514 [Gene]
  • DCAF8-DT:DCAF8 divergent transcript [Gene - HGNC]
  • DCAF8:DDB1 and CUL4 associated factor 8 [Gene - OMIM - HGNC]
  • F11R:F11 receptor [Gene - OMIM - HGNC]
  • FAM78B-AS1:FAM78B antisense RNA 1 [Gene - HGNC]
  • FCER1G:Fc epsilon receptor Ig [Gene - OMIM - HGNC]
  • FCGR3A:Fc gamma receptor IIIa [Gene - OMIM - HGNC]
  • FCGR3B:Fc gamma receptor IIIb [Gene - OMIM - HGNC]
  • FCGR2A:Fc gamma receptor IIa [Gene - OMIM - HGNC]
  • FCGR2B:Fc gamma receptor IIb [Gene - OMIM - HGNC]
  • FCGR2C:Fc gamma receptor IIc (gene/pseudogene) [Gene - OMIM - HGNC]
  • FCRL6:Fc receptor like 6 [Gene - OMIM - HGNC]
  • FCRLA:Fc receptor like A [Gene - OMIM - HGNC]
  • FCRLB:Fc receptor like B [Gene - OMIM - HGNC]
  • LMX1A:LIM homeobox transcription factor 1 alpha [Gene - OMIM - HGNC]
  • LMX1A-AS1:LMX1A antisense RNA 1 [Gene - HGNC]
  • LMX1A-AS2:LMX1A antisense RNA 2 [Gene - HGNC]
  • LRRC52-AS1:LRRC52 antisense RNA 1 [Gene - HGNC]
  • LOC126805894:MED14-independent group 3 enhancer GRCh37_chr1:161123368-161124567 [Gene]
  • LOC126805899:MED14-independent group 3 enhancer GRCh37_chr1:165619651-165620850 [Gene]
  • LOC126805903:MED14-independent group 3 enhancer GRCh37_chr1:166644091-166645290 [Gene]
  • LOC129388615:MPRA-validated peak433 silencer [Gene]
  • LOC129388616:MPRA-validated peak435 silencer [Gene]
  • LOC129388617:MPRA-validated peak437 silencer [Gene]
  • LOC129388618:MPRA-validated peak438 silencer [Gene]
  • LOC129388619:MPRA-validated peak439 silencer [Gene]
  • LOC129388620:MPRA-validated peak440 silencer [Gene]
  • NDUFS2:NADH:ubiquinone oxidoreductase core subunit S2 [Gene - OMIM - HGNC]
  • NECTIN4-AS1:NECTIN4 antisense RNA 1 [Gene - HGNC]
  • NUF2:NUF2 component of NDC80 kinetochore complex [Gene - OMIM - HGNC]
  • LOC132088596:Neanderthal introgressed variant-containing enhancer experimental_1002 [Gene]
  • LOC132090667:Neanderthal introgressed variant-containing enhancer experimental_419 [Gene]
  • LOC132088655:Neanderthal introgressed variant-containing enhancer experimental_482 [Gene]
  • LOC132090668:Neanderthal introgressed variant-containing enhancer experimental_558 [Gene]
  • LOC132088672:Neanderthal introgressed variant-containing enhancer experimental_577 [Gene]
  • LOC132088675:Neanderthal introgressed variant-containing enhancer experimental_592 [Gene]
  • LOC132088682:Neanderthal introgressed variant-containing enhancer experimental_629 [Gene]
  • LOC132088705:Neanderthal introgressed variant-containing enhancer experimental_715 [Gene]
  • LOC132088709:Neanderthal introgressed variant-containing enhancer experimental_757 [Gene]
  • LOC132090669:Neanderthal introgressed variant-containing enhancer experimental_852 [Gene]
  • LOC132088744:Neanderthal introgressed variant-containing enhancer experimental_946 [Gene]
  • LOC132088748:Neanderthal introgressed variant-containing enhancer experimental_966 [Gene]
  • LOC132088749:Neanderthal introgressed variant-containing enhancer experimental_978 [Gene]
  • LOC126805889:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:159893727-159894926 [Gene]
  • LOC126805896:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:162389320-162390519 [Gene]
  • LOC126805897:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:163005147-163006346 [Gene]
  • PBX1:PBX homeobox 1 [Gene - OMIM - HGNC]
  • PBX1-AS1:PBX1 antisense RNA 1 [Gene - HGNC]
  • PCP4L1:Purkinje cell protein 4 like 1 [Gene - HGNC]
  • LOC108281190:RGS4-RGS5 intergenic ENCODE-defined enhancer [Gene]
  • RGS5-AS1:RGS5 antisense RNA 1 [Gene - HGNC]
  • ARHGAP30:Rho GTPase activating protein 30 [Gene - OMIM - HGNC]
  • SH2D1B:SH2 domain containing 1B [Gene - OMIM - HGNC]
  • SLAMF6:SLAM family member 6 [Gene - OMIM - HGNC]
  • SLAMF7:SLAM family member 7 [Gene - OMIM - HGNC]
  • SLAMF8:SLAM family member 8 [Gene - OMIM - HGNC]
  • SLAMF9:SLAM family member 9 [Gene - OMIM - HGNC]
  • LOC122128467:Sharpr-MPRA regulatory region 10580 [Gene]
  • LOC122128460:Sharpr-MPRA regulatory region 11962 [Gene]
  • LOC122128455:Sharpr-MPRA regulatory region 11999 [Gene]
  • LOC122128461:Sharpr-MPRA regulatory region 12682 [Gene]
  • LOC122128457:Sharpr-MPRA regulatory region 12849 [Gene]
  • LOC121725062:Sharpr-MPRA regulatory region 14373 [Gene]
  • LOC122128452:Sharpr-MPRA regulatory region 15100 [Gene]
  • LOC122128466:Sharpr-MPRA regulatory region 1747 [Gene]
  • LOC122128464:Sharpr-MPRA regulatory region 1770 [Gene]
  • LOC112577508:Sharpr-MPRA regulatory region 2282 [Gene]
  • LOC122128468:Sharpr-MPRA regulatory region 2437 [Gene]
  • LOC120893164:Sharpr-MPRA regulatory region 2622 [Gene]
  • LOC122128458:Sharpr-MPRA regulatory region 3396 [Gene]
  • LOC121725061:Sharpr-MPRA regulatory region 4269 [Gene]
  • LOC122128462:Sharpr-MPRA regulatory region 4437 [Gene]
  • LOC122128463:Sharpr-MPRA regulatory region 4859 [Gene]
  • LOC122128453:Sharpr-MPRA regulatory region 5062 [Gene]
  • LOC112577506:Sharpr-MPRA regulatory region 5459 [Gene]
  • LOC122128459:Sharpr-MPRA regulatory region 578 [Gene]
  • LOC112577507:Sharpr-MPRA regulatory region 7182 [Gene]
  • LOC122128465:Sharpr-MPRA regulatory region 7579 [Gene]
  • LOC122128456:Sharpr-MPRA regulatory region 8449 [Gene]
  • LOC121725060:Sharpr-MPRA regulatory region 9392 [Gene]
  • LOC122128454:Sharpr-MPRA regulatory regions 3039 and 8536 [Gene]
  • TMCO1-AS1:TMCO1 antisense RNA 1 [Gene - HGNC]
  • UHMK1:U2AF homology motif kinase 1 [Gene - OMIM - HGNC]
  • UAP1:UDP-N-acetylglucosamine pyrophosphorylase 1 [Gene - OMIM - HGNC]
  • VSIG8:V-set and immunoglobulin domain containing 8 [Gene - HGNC]
  • VANGL2:VANGL planar cell polarity protein 2 [Gene - OMIM - HGNC]
  • LOC110121004:VISTA enhancer hs1144 [Gene]
  • LOC110121019:VISTA enhancer hs1185 [Gene]
  • LOC110121021:VISTA enhancer hs1191 [Gene]
  • LOC110121025:VISTA enhancer hs1202 [Gene]
  • LOC110121037:VISTA enhancer hs1235 [Gene]
  • LOC110120762:VISTA enhancer hs762 [Gene]
  • ATF6:activating transcription factor 6 [Gene - OMIM - HGNC]
  • ALDH9A1:aldehyde dehydrogenase 9 family member A1 [Gene - OMIM - HGNC]
  • APCS:amyloid P component, serum [Gene - OMIM - HGNC]
  • APOA2:apolipoprotein A2 [Gene - OMIM - HGNC]
  • B4GALT3:beta-1,4-galactosyltransferase 3 [Gene - OMIM - HGNC]
  • CASQ1:calsequestrin 1 [Gene - OMIM - HGNC]
  • C1orf226:chromosome 1 open reading frame 226 [Gene - HGNC]
  • CFAP126:cilia and flagella associated protein 126 [Gene - OMIM - HGNC]
  • CFAP45:cilia and flagella associated protein 45 [Gene - OMIM - HGNC]
  • CCDC190:coiled-coil domain containing 190 [Gene - HGNC]
  • DEDD:death effector domain containing [Gene - OMIM - HGNC]
  • DDR2:discoidin domain receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
  • DUSP12:dual specificity phosphatase 12 [Gene - OMIM - HGNC]
  • DUSP23:dual specificity phosphatase 23 [Gene - OMIM - HGNC]
  • FAM78B:family with sequence similarity 78 member B [Gene - HGNC]
  • LOC112577509:hESC enhancers GRCh37_chr1:164581219-164581760 and GRCh37_chr1:164581219-164581760 [Gene]
  • HSPA6:heat shock protein family A (Hsp70) member 6 [Gene - OMIM - HGNC]
  • HSD17B7:hydroxysteroid 17-beta dehydrogenase 7 [Gene - OMIM - HGNC]
  • IGSF8:immunoglobulin superfamily member 8 [Gene - OMIM - HGNC]
  • IGSF9:immunoglobulin superfamily member 9 [Gene - OMIM - HGNC]
  • ITLN1:intelectin 1 [Gene - OMIM - HGNC]
  • ITLN2:intelectin 2 [Gene - OMIM - HGNC]
  • KLHDC9:kelch domain containing 9 [Gene - OMIM - HGNC]
  • LRRC52:leucine rich repeat containing 52 [Gene - OMIM - HGNC]
  • LOC112543491:linc-UFC1 [Gene]
  • LINC01133:long intergenic non-protein coding RNA 1133 [Gene - HGNC]
  • LINC01675:long intergenic non-protein coding RNA 1675 [Gene - HGNC]
  • LINC02819:long intergenic non-protein coding RNA 2819 [Gene - HGNC]
  • LY9:lymphocyte antigen 9 [Gene - OMIM - HGNC]
  • MIR3658:microRNA 3658 [Gene - HGNC]
  • MIR4259:microRNA 4259 [Gene - HGNC]
  • MIR4654:microRNA 4654 [Gene - HGNC]
  • MIR5187:microRNA 5187 [Gene - HGNC]
  • MIR556:microRNA 556 [Gene - HGNC]
  • MIR921:microRNA 921 [Gene - HGNC]
  • MGST3:microsomal glutathione S-transferase 3 [Gene - OMIM - HGNC]
  • MPZ:myelin protein zero [Gene - OMIM - HGNC]
  • NECTIN4:nectin cell adhesion molecule 4 [Gene - OMIM - HGNC]
  • NHLH1:nescient helix-loop-helix 1 [Gene - OMIM - HGNC]
  • NCSTN:nicastrin [Gene - OMIM - HGNC]
  • NOS1AP:nitric oxide synthase 1 adaptor protein [Gene - OMIM - HGNC]
  • NIT1:nitrilase 1 [Gene - OMIM - HGNC]
  • NR1I3:nuclear receptor subfamily 1 group I member 3 [Gene - OMIM - HGNC]
  • OLFML2B:olfactomedin like 2B [Gene - HGNC]
  • OR10J5:olfactory receptor family 10 subfamily J member 5 [Gene - OMIM - HGNC]
  • PEX19:peroxisomal biogenesis factor 19 [Gene - OMIM - HGNC]
  • PIGM:phosphatidylinositol glycan anchor biosynthesis class M [Gene - OMIM - HGNC]
  • POGK:pogo transposable element derived with KRAB domain [Gene - OMIM - HGNC]
  • KCNJ10:potassium inwardly rectifying channel subfamily J member 10 [Gene - OMIM - HGNC]
  • KCNJ9:potassium inwardly rectifying channel subfamily J member 9 [Gene - OMIM - HGNC]
  • PFDN2:prefoldin subunit 2 [Gene - OMIM - HGNC]
  • PEA15:proliferation and apoptosis adaptor protein 15 [Gene - OMIM - HGNC]
  • PPOX:protoporphyrinogen oxidase [Gene - OMIM - HGNC]
  • RGS4:regulator of G protein signaling 4 [Gene - OMIM - HGNC]
  • RGS5:regulator of G protein signaling 5 [Gene - OMIM - HGNC]
  • RXRG:retinoid X receptor gamma [Gene - OMIM - HGNC]
  • SLAMF1:signaling lymphocytic activation molecule family member 1 [Gene - OMIM - HGNC]
  • SNHG28:small nucleolar RNA host gene 28 [Gene - HGNC]
  • SPATA46:spermatogenesis associated 46 [Gene - OMIM - HGNC]
  • SDHC:succinate dehydrogenase complex subunit C [Gene - OMIM - HGNC]
  • TRN-GTT1-1:tRNA-Asn (anticodon GTT) 1-1 [Gene - HGNC]
  • TRN-GTT2-2:tRNA-Asn (anticodon GTT) 2-2 [Gene - HGNC]
  • TRD-GTC2-1:tRNA-Asp (anticodon GTC) 2-1 [Gene - HGNC]
  • TRD-GTC2-2:tRNA-Asp (anticodon GTC) 2-2 [Gene - HGNC]
  • TRD-GTC2-3:tRNA-Asp (anticodon GTC) 2-3 [Gene - HGNC]
  • TRD-GTC2-4:tRNA-Asp (anticodon GTC) 2-4 [Gene - HGNC]
  • TRD-GTC2-5:tRNA-Asp (anticodon GTC) 2-5 [Gene - HGNC]
  • TRE-CTC1-2:tRNA-Glu (anticodon CTC) 1-2 [Gene - HGNC]
  • TRE-CTC1-3:tRNA-Glu (anticodon CTC) 1-3 [Gene - HGNC]
  • TRE-CTC1-4:tRNA-Glu (anticodon CTC) 1-4 [Gene - HGNC]
  • TRE-CTC1-5:tRNA-Glu (anticodon CTC) 1-5 [Gene - HGNC]
  • TRE-TTC4-2:tRNA-Glu (anticodon TTC) 4-2 [Gene - HGNC]
  • TRG-GCC1-1:tRNA-Gly (anticodon GCC) 1-1 [Gene - HGNC]
  • TRG-GCC1-2:tRNA-Gly (anticodon GCC) 1-2 [Gene - HGNC]
  • TRG-GCC1-3:tRNA-Gly (anticodon GCC) 1-3 [Gene - HGNC]
  • TRG-GCC1-4:tRNA-Gly (anticodon GCC) 1-4 [Gene - HGNC]
  • TRG-GCC2-1:tRNA-Gly (anticodon GCC) 2-1 [Gene - HGNC]
  • TRG-GCC4-1:tRNA-Gly (anticodon GCC) 4-1 [Gene - HGNC]
  • TRG-TCC2-2:tRNA-Gly (anticodon TCC) 2-2 [Gene - HGNC]
  • TRG-TCC2-3:tRNA-Gly (anticodon TCC) 2-3 [Gene - HGNC]
  • TRG-TCC2-4:tRNA-Gly (anticodon TCC) 2-4 [Gene - HGNC]
  • TRG-TCC2-5:tRNA-Gly (anticodon TCC) 2-5 [Gene - HGNC]
  • TRG-TCC2-6:tRNA-Gly (anticodon TCC) 2-6 [Gene - HGNC]
  • TRG-TCC4-1:tRNA-Gly (anticodon TCC) 4-1 [Gene - HGNC]
  • TRL-CAA6-1:tRNA-Leu (anticodon CAA) 6-1 [Gene - HGNC]
  • TRL-CAG1-1:tRNA-Leu (anticodon CAG) 1-1 [Gene - HGNC]
  • TRL-CAG1-2:tRNA-Leu (anticodon CAG) 1-2 [Gene - HGNC]
  • TRL-CAG1-3:tRNA-Leu (anticodon CAG) 1-3 [Gene - HGNC]
  • TRL-CAG1-4:tRNA-Leu (anticodon CAG) 1-4 [Gene - HGNC]
  • TRL-CAG1-5:tRNA-Leu (anticodon CAG) 1-5 [Gene - HGNC]
  • TRL-CAG1-6:tRNA-Leu (anticodon CAG) 1-6 [Gene - HGNC]
  • TRV-CAC1-1:tRNA-Val (anticodon CAC) 1-1 [Gene - HGNC]
  • TSTD1:thiosulfate sulfurtransferase like domain containing 1 [Gene - OMIM - HGNC]
  • TADA1:transcriptional adaptor 1 [Gene - OMIM - HGNC]
  • TAGLN2:transgelin 2 [Gene - OMIM - HGNC]
  • TOMM40L:translocase of outer mitochondrial membrane 40 like [Gene - HGNC]
  • TMCO1:transmembrane and coiled-coil domains 1 [Gene - OMIM - HGNC]
  • USP21:ubiquitin specific peptidase 21 [Gene - OMIM - HGNC]
  • UFC1:ubiquitin-fold modifier conjugating enzyme 1 [Gene - OMIM - HGNC]
  • LOC101928372:uncharacterized LOC101928372 [Gene]
  • LOC105371468:uncharacterized LOC105371468 [Gene]
  • LOC105371470:uncharacterized LOC105371470 [Gene]
  • LOC127814295:uncharacterized LOC127814295 [Gene]
  • LOC729867:uncharacterized LOC729867 [Gene]
  • USF1:upstream transcription factor 1 [Gene - OMIM - HGNC]
  • UCK2:uridine-cytidine kinase 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q23.2-24.1
Genomic location:
Preferred name:
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1
HGVS:
  • NC_000001.11:g.(?_159479887)_(166895086_?)del
  • NC_000001.10:g.(?_159449677)_(166864323_?)del
  • NC_000001.9:g.(?_157716301)_(165130947_?)del
Links:
dbVar: nssv577227; dbVar: nsv529716
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
SCV000078516ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		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

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 4, SCV000078516.4

#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