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GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)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:
RCV000053914.5

Allele description [Variation Report for GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1]

GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1

Genes:
  • 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]
  • LOC129931831:ATAC-STARR-seq lymphoblastoid active region 2028 [Gene]
  • LOC129931833:ATAC-STARR-seq lymphoblastoid active region 2029 [Gene]
  • LOC129931834:ATAC-STARR-seq lymphoblastoid active region 2030 [Gene]
  • LOC129931838:ATAC-STARR-seq lymphoblastoid active region 2031 [Gene]
  • LOC129931839:ATAC-STARR-seq lymphoblastoid active region 2032 [Gene]
  • LOC129931840:ATAC-STARR-seq lymphoblastoid active region 2033 [Gene]
  • LOC129931841:ATAC-STARR-seq lymphoblastoid active region 2034 [Gene]
  • LOC129931842:ATAC-STARR-seq lymphoblastoid active region 2035 [Gene]
  • LOC129931847:ATAC-STARR-seq lymphoblastoid active region 2036 [Gene]
  • LOC129931848:ATAC-STARR-seq lymphoblastoid active region 2037 [Gene]
  • LOC129931849:ATAC-STARR-seq lymphoblastoid active region 2038 [Gene]
  • LOC129931857:ATAC-STARR-seq lymphoblastoid active region 2042 [Gene]
  • LOC129931858:ATAC-STARR-seq lymphoblastoid active region 2043 [Gene]
  • LOC129931859:ATAC-STARR-seq lymphoblastoid active region 2044 [Gene]
  • LOC129931860:ATAC-STARR-seq lymphoblastoid active region 2045 [Gene]
  • LOC129931863:ATAC-STARR-seq lymphoblastoid active region 2046 [Gene]
  • LOC129931864:ATAC-STARR-seq lymphoblastoid active region 2047 [Gene]
  • LOC129931865:ATAC-STARR-seq lymphoblastoid active region 2048 [Gene]
  • LOC129931866:ATAC-STARR-seq lymphoblastoid active region 2049 [Gene]
  • LOC129931867:ATAC-STARR-seq lymphoblastoid active region 2050 [Gene]
  • LOC129931868:ATAC-STARR-seq lymphoblastoid active region 2051 [Gene]
  • LOC129931872:ATAC-STARR-seq lymphoblastoid active region 2053 [Gene]
  • LOC129931874:ATAC-STARR-seq lymphoblastoid active region 2054 [Gene]
  • LOC129931876:ATAC-STARR-seq lymphoblastoid active region 2055 [Gene]
  • LOC129931879:ATAC-STARR-seq lymphoblastoid active region 2056 [Gene]
  • LOC129931881:ATAC-STARR-seq lymphoblastoid active region 2057 [Gene]
  • LOC129931882:ATAC-STARR-seq lymphoblastoid active region 2058 [Gene]
  • LOC129931883:ATAC-STARR-seq lymphoblastoid active region 2059 [Gene]
  • LOC129931885:ATAC-STARR-seq lymphoblastoid active region 2062 [Gene]
  • LOC129931886:ATAC-STARR-seq lymphoblastoid active region 2063 [Gene]
  • LOC129931887:ATAC-STARR-seq lymphoblastoid active region 2064 [Gene]
  • LOC129931888:ATAC-STARR-seq lymphoblastoid active region 2065 [Gene]
  • LOC129931889:ATAC-STARR-seq lymphoblastoid active region 2066 [Gene]
  • LOC129931890:ATAC-STARR-seq lymphoblastoid active region 2067 [Gene]
  • LOC129931891:ATAC-STARR-seq lymphoblastoid active region 2068 [Gene]
  • LOC129931892:ATAC-STARR-seq lymphoblastoid active region 2070 [Gene]
  • LOC129931893:ATAC-STARR-seq lymphoblastoid active region 2072 [Gene]
  • LOC129931895:ATAC-STARR-seq lymphoblastoid active region 2075 [Gene]
  • LOC129931896:ATAC-STARR-seq lymphoblastoid active region 2076 [Gene]
  • LOC129931897:ATAC-STARR-seq lymphoblastoid active region 2077 [Gene]
  • LOC129931898:ATAC-STARR-seq lymphoblastoid active region 2078 [Gene]
  • LOC129931899:ATAC-STARR-seq lymphoblastoid active region 2079 [Gene]
  • LOC129931900:ATAC-STARR-seq lymphoblastoid active region 2080 [Gene]
  • LOC129931901:ATAC-STARR-seq lymphoblastoid active region 2082 [Gene]
  • LOC129931902:ATAC-STARR-seq lymphoblastoid active region 2083 [Gene]
  • LOC129931904:ATAC-STARR-seq lymphoblastoid active region 2084 [Gene]
  • LOC129931906:ATAC-STARR-seq lymphoblastoid active region 2086 [Gene]
  • LOC129931907:ATAC-STARR-seq lymphoblastoid active region 2087 [Gene]
  • LOC129931908:ATAC-STARR-seq lymphoblastoid active region 2088 [Gene]
  • LOC129931909:ATAC-STARR-seq lymphoblastoid active region 2089 [Gene]
  • LOC129931910:ATAC-STARR-seq lymphoblastoid active region 2090 [Gene]
  • LOC129931911:ATAC-STARR-seq lymphoblastoid active region 2092 [Gene]
  • LOC129931912:ATAC-STARR-seq lymphoblastoid active region 2093 [Gene]
  • LOC129931914:ATAC-STARR-seq lymphoblastoid active region 2094 [Gene]
  • LOC129931916:ATAC-STARR-seq lymphoblastoid active region 2095 [Gene]
  • LOC129931917:ATAC-STARR-seq lymphoblastoid active region 2096 [Gene]
  • LOC129931918:ATAC-STARR-seq lymphoblastoid active region 2097 [Gene]
  • LOC129931919:ATAC-STARR-seq lymphoblastoid active region 2098 [Gene]
  • LOC129931920:ATAC-STARR-seq lymphoblastoid active region 2099 [Gene]
  • LOC129931921:ATAC-STARR-seq lymphoblastoid active region 2100 [Gene]
  • LOC129931922:ATAC-STARR-seq lymphoblastoid active region 2101 [Gene]
  • LOC129931923:ATAC-STARR-seq lymphoblastoid active region 2102 [Gene]
  • LOC129931925:ATAC-STARR-seq lymphoblastoid active region 2103 [Gene]
  • LOC129931926:ATAC-STARR-seq lymphoblastoid active region 2104 [Gene]
  • LOC129931927:ATAC-STARR-seq lymphoblastoid active region 2105 [Gene]
  • LOC129931928:ATAC-STARR-seq lymphoblastoid active region 2106 [Gene]
  • LOC129931929:ATAC-STARR-seq lymphoblastoid active region 2107 [Gene]
  • LOC129931930:ATAC-STARR-seq lymphoblastoid active region 2108 [Gene]
  • LOC129931931:ATAC-STARR-seq lymphoblastoid active region 2109 [Gene]
  • LOC129931932:ATAC-STARR-seq lymphoblastoid active region 2110 [Gene]
  • LOC129931933:ATAC-STARR-seq lymphoblastoid active region 2111 [Gene]
  • LOC129931934:ATAC-STARR-seq lymphoblastoid active region 2112 [Gene]
  • LOC129931936:ATAC-STARR-seq lymphoblastoid active region 2113 [Gene]
  • LOC129931937:ATAC-STARR-seq lymphoblastoid active region 2114 [Gene]
  • LOC129931938:ATAC-STARR-seq lymphoblastoid active region 2115 [Gene]
  • LOC129931939:ATAC-STARR-seq lymphoblastoid active region 2116 [Gene]
  • LOC129931941:ATAC-STARR-seq lymphoblastoid active region 2118 [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]
  • LOC129931832:ATAC-STARR-seq lymphoblastoid silent region 1515 [Gene]
  • LOC129931835:ATAC-STARR-seq lymphoblastoid silent region 1516 [Gene]
  • LOC129931836:ATAC-STARR-seq lymphoblastoid silent region 1517 [Gene]
  • LOC129931837:ATAC-STARR-seq lymphoblastoid silent region 1518 [Gene]
  • LOC129931843:ATAC-STARR-seq lymphoblastoid silent region 1519 [Gene]
  • LOC129931844:ATAC-STARR-seq lymphoblastoid silent region 1520 [Gene]
  • LOC129931845:ATAC-STARR-seq lymphoblastoid silent region 1521 [Gene]
  • LOC129931846:ATAC-STARR-seq lymphoblastoid silent region 1522 [Gene]
  • LOC129931850:ATAC-STARR-seq lymphoblastoid silent region 1524 [Gene]
  • LOC129931851:ATAC-STARR-seq lymphoblastoid silent region 1525 [Gene]
  • LOC129931852:ATAC-STARR-seq lymphoblastoid silent region 1526 [Gene]
  • LOC129931853:ATAC-STARR-seq lymphoblastoid silent region 1527 [Gene]
  • LOC129931854:ATAC-STARR-seq lymphoblastoid silent region 1528 [Gene]
  • LOC129931855:ATAC-STARR-seq lymphoblastoid silent region 1529 [Gene]
  • LOC129931856:ATAC-STARR-seq lymphoblastoid silent region 1530 [Gene]
  • LOC129931861:ATAC-STARR-seq lymphoblastoid silent region 1531 [Gene]
  • LOC129931862:ATAC-STARR-seq lymphoblastoid silent region 1532 [Gene]
  • LOC129931869:ATAC-STARR-seq lymphoblastoid silent region 1533 [Gene]
  • LOC129931870:ATAC-STARR-seq lymphoblastoid silent region 1534 [Gene]
  • LOC129931871:ATAC-STARR-seq lymphoblastoid silent region 1535 [Gene]
  • LOC129931873:ATAC-STARR-seq lymphoblastoid silent region 1538 [Gene]
  • LOC129931875:ATAC-STARR-seq lymphoblastoid silent region 1539 [Gene]
  • LOC129931877:ATAC-STARR-seq lymphoblastoid silent region 1540 [Gene]
  • LOC129931878:ATAC-STARR-seq lymphoblastoid silent region 1541 [Gene]
  • LOC129931880:ATAC-STARR-seq lymphoblastoid silent region 1542 [Gene]
  • LOC129931884:ATAC-STARR-seq lymphoblastoid silent region 1544 [Gene]
  • LOC129931894:ATAC-STARR-seq lymphoblastoid silent region 1546 [Gene]
  • LOC129931903:ATAC-STARR-seq lymphoblastoid silent region 1549 [Gene]
  • LOC129931905:ATAC-STARR-seq lymphoblastoid silent region 1551 [Gene]
  • LOC129931913:ATAC-STARR-seq lymphoblastoid silent region 1552 [Gene]
  • LOC129931915:ATAC-STARR-seq lymphoblastoid silent region 1553 [Gene]
  • LOC129931924:ATAC-STARR-seq lymphoblastoid silent region 1554 [Gene]
  • LOC129931935:ATAC-STARR-seq lymphoblastoid silent region 1555 [Gene]
  • LOC129931940:ATAC-STARR-seq lymphoblastoid silent region 1556 [Gene]
  • ATF6-DT:ATF6 divergent transcript [Gene - HGNC]
  • ATP1B1:ATPase Na+/K+ transporting subunit beta 1 [Gene - OMIM - HGNC]
  • 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]
  • LOC126805904:BRD4-independent group 4 enhancer GRCh37_chr1:166958090-166959289 [Gene]
  • LOC126805906:BRD4-independent group 4 enhancer GRCh37_chr1:167533326-167534525 [Gene]
  • LOC126805910:BRD4-independent group 4 enhancer GRCh37_chr1:168479196-168480395 [Gene]
  • LOC126805911:BRD4-independent group 4 enhancer GRCh37_chr1:168481645-168482844 [Gene]
  • LOC126805914:BRD4-independent group 4 enhancer GRCh37_chr1:170607884-170609083 [Gene]
  • LOC126805915:BRD4-independent group 4 enhancer GRCh37_chr1:170803258-170804457 [Gene]
  • LOC126805916:BRD4-independent group 4 enhancer GRCh37_chr1:171076844-171078043 [Gene]
  • LOC126805920:BRD4-independent group 4 enhancer GRCh37_chr1:173473949-173475148 [Gene]
  • LOC126805921:BRD4-independent group 4 enhancer GRCh37_chr1:173610829-173612028 [Gene]
  • LOC126805922:BRD4-independent group 4 enhancer GRCh37_chr1:173837597-173838796 [Gene]
  • LOC126805923:BRD4-independent group 4 enhancer GRCh37_chr1:173863193-173864392 [Gene]
  • CD247:CD247 molecule [Gene - OMIM - HGNC]
  • 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]
  • LOC126805907:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:167586581-167587780 [Gene]
  • LOC126805908:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:167658487-167659686 [Gene]
  • LOC126805909:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:167956130-167957329 [Gene]
  • LOC112577511:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:169082217-169083416 [Gene]
  • LOC126805913:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:170588042-170589241 [Gene]
  • LOC126805918:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:172607677-172608876 [Gene]
  • LOC115801454:CRISPRi-validated cis-regulatory element chr1.9777 [Gene]
  • LOC115801455:CRISPRi-validated cis-regulatory element chr1.9913 [Gene]
  • DCAF6:DDB1 and CUL4 associated factor 6 [Gene - OMIM - HGNC]
  • DNM3-IT1:DNM3 intronic transcript 1 [Gene - HGNC]
  • DNM3OS:DNM3 opposite strand/antisense RNA [Gene - HGNC]
  • FAM78B-AS1:FAM78B antisense RNA 1 [Gene - HGNC]
  • FIRRM:FIGNL1 interacting regulator of recombination and mitosis [Gene - HGNC]
  • FASLG:Fas ligand [Gene - OMIM - HGNC]
  • GPR161:G protein-coupled receptor 161 [Gene - OMIM - HGNC]
  • GAS5-AS1:GAS5 antisense RNA 1 [Gene - HGNC]
  • LOC111464988:GATA motif-containing MPRA enhancer 235 [Gene]
  • GORAB-AS1:GORAB antisense RNA 1 [Gene - 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]
  • LOC126805899:MED14-independent group 3 enhancer GRCh37_chr1:165619651-165620850 [Gene]
  • LOC126805903:MED14-independent group 3 enhancer GRCh37_chr1:166644091-166645290 [Gene]
  • LOC126805919:MED14-independent group 3 enhancer GRCh37_chr1:172875963-172877162 [Gene]
  • LOC126805924:MED14-independent group 3 enhancer GRCh37_chr1:173915901-173917100 [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]
  • LOC129388621:MPRA-validated peak441 silencer [Gene]
  • LOC129388622:MPRA-validated peak443 silencer [Gene]
  • LOC129388623:MPRA-validated peak444 silencer [Gene]
  • LOC129388624:MPRA-validated peak446 silencer [Gene]
  • LOC129388625:MPRA-validated peak447 silencer [Gene]
  • LOC129388626:MPRA-validated peak448 silencer [Gene]
  • LOC129388627:MPRA-validated peak449 silencer [Gene]
  • LOC129388628:MPRA-validated peak450 silencer [Gene]
  • LOC129388629:MPRA-validated peak452 silencer [Gene]
  • LOC129388630:MPRA-validated peak453 silencer [Gene]
  • LOC129388631:MPRA-validated peak455 silencer [Gene]
  • LOC129388632:MPRA-validated peak456 silencer [Gene]
  • LOC129388633:MPRA-validated peak458 silencer [Gene]
  • LOC129388634:MPRA-validated peak459 silencer [Gene]
  • LOC129388635:MPRA-validated peak463 silencer [Gene]
  • NTMT2:N-terminal Xaa-Pro-Lys N-methyltransferase 2 [Gene - HGNC]
  • NME7:NME/NM23 family member 7 [Gene - OMIM - HGNC]
  • NUF2:NUF2 component of NDC80 kinetochore complex [Gene - OMIM - HGNC]
  • LOC132088596:Neanderthal introgressed variant-containing enhancer experimental_1002 [Gene]
  • LOC132088597:Neanderthal introgressed variant-containing enhancer experimental_1250 [Gene]
  • LOC132088598:Neanderthal introgressed variant-containing enhancer experimental_1277 [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]
  • 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]
  • LOC126805905:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:167486398-167487597 [Gene]
  • LOC126805912:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:169336872-169338071 [Gene]
  • LOC126805917:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:171762946-171764145 [Gene]
  • PBX1:PBX homeobox 1 [Gene - OMIM - HGNC]
  • PBX1-AS1:PBX1 antisense RNA 1 [Gene - HGNC]
  • POU2F1:POU class 2 homeobox 1 [Gene - OMIM - HGNC]
  • POU2F1-DT:POU2F1 divergent transcript [Gene - HGNC]
  • PRDX6-AS1:PRDX6 antisense RNA 1 [Gene - HGNC]
  • RCSD1:RCSD domain containing 1 [Gene - OMIM - HGNC]
  • LOC108281190:RGS4-RGS5 intergenic ENCODE-defined enhancer [Gene]
  • RGS5-AS1:RGS5 antisense RNA 1 [Gene - HGNC]
  • SCYL3:SCY1 like pseudokinase 3 [Gene - OMIM - HGNC]
  • SFT2D2:SFT2 domain containing 2 [Gene - HGNC]
  • SH2D1B:SH2 domain containing 1B [Gene - OMIM - HGNC]
  • SUCO:SUN domain containing ossification factor [Gene - OMIM - HGNC]
  • LOC113939980:Sharpr-MPRA regulatory region 1052 [Gene]
  • LOC122128467:Sharpr-MPRA regulatory region 10580 [Gene]
  • LOC122149296:Sharpr-MPRA regulatory region 10840 [Gene]
  • LOC122149293:Sharpr-MPRA regulatory region 11959 [Gene]
  • LOC122128460:Sharpr-MPRA regulatory region 11962 [Gene]
  • LOC122128461:Sharpr-MPRA regulatory region 12682 [Gene]
  • LOC122128469:Sharpr-MPRA regulatory region 13653 [Gene]
  • LOC112577513:Sharpr-MPRA regulatory region 13770 [Gene]
  • LOC121725062:Sharpr-MPRA regulatory region 14373 [Gene]
  • LOC122149295:Sharpr-MPRA regulatory region 1485 [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]
  • LOC122149294:Sharpr-MPRA regulatory region 2596 [Gene]
  • LOC112577512:Sharpr-MPRA regulatory region 2803 [Gene]
  • LOC122149297:Sharpr-MPRA regulatory region 3225 [Gene]
  • LOC122128472:Sharpr-MPRA regulatory region 4419 [Gene]
  • LOC122128462:Sharpr-MPRA regulatory region 4437 [Gene]
  • LOC120893166:Sharpr-MPRA regulatory region 4605 [Gene]
  • LOC121725064:Sharpr-MPRA regulatory region 4744 [Gene]
  • LOC122128463:Sharpr-MPRA regulatory region 4859 [Gene]
  • LOC112577514:Sharpr-MPRA regulatory region 5023 [Gene]
  • LOC120893165:Sharpr-MPRA regulatory region 5964 [Gene]
  • LOC121725063:Sharpr-MPRA regulatory region 5967 [Gene]
  • LOC122149307:Sharpr-MPRA regulatory region 615 [Gene]
  • LOC112577510:Sharpr-MPRA regulatory region 6776 [Gene]
  • LOC122149308:Sharpr-MPRA regulatory region 679 [Gene]
  • LOC122128465:Sharpr-MPRA regulatory region 7579 [Gene]
  • LOC122149292:Sharpr-MPRA regulatory region 7850 [Gene]
  • LOC122128471:Sharpr-MPRA regulatory region 8181 [Gene]
  • LOC122128470:Sharpr-MPRA regulatory region 8817 [Gene]
  • LOC120893168:Sharpr-MPRA regulatory region 8886 [Gene]
  • TBX19:T-box transcription factor 19 [Gene - OMIM - HGNC]
  • TMCO1-AS1:TMCO1 antisense RNA 1 [Gene - HGNC]
  • TNFSF18:TNF superfamily member 18 [Gene - OMIM - HGNC]
  • TNFSF4:TNF superfamily member 4 [Gene - OMIM - HGNC]
  • TIPRL:TOR signaling pathway regulator [Gene - OMIM - HGNC]
  • UHMK1:U2AF homology motif kinase 1 [Gene - OMIM - HGNC]
  • UAP1:UDP-N-acetylglucosamine pyrophosphorylase 1 [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]
  • LOC110121063:VISTA enhancer hs1331 [Gene]
  • LOC110121105:VISTA enhancer hs1442 [Gene]
  • LOC110120762:VISTA enhancer hs762 [Gene]
  • XCL1:X-C motif chemokine ligand 1 [Gene - OMIM - HGNC]
  • XCL2:X-C motif chemokine ligand 2 [Gene - OMIM - HGNC]
  • ATF6:activating transcription factor 6 [Gene - OMIM - HGNC]
  • ADCY10:adenylate cyclase 10 [Gene - OMIM - HGNC]
  • ALDH9A1:aldehyde dehydrogenase 9 family member A1 [Gene - OMIM - HGNC]
  • ANKRD45:ankyrin repeat domain 45 [Gene - OMIM - HGNC]
  • DARS2:aspartyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • BLZF1:basic leucine zipper nuclear factor 1 [Gene - OMIM - HGNC]
  • CREG1:cellular repressor of E1A stimulated genes 1 [Gene - OMIM - HGNC]
  • CENPL:centromere protein L [Gene - OMIM - HGNC]
  • C1orf105:chromosome 1 open reading frame 105 [Gene - HGNC]
  • C1orf226:chromosome 1 open reading frame 226 [Gene - HGNC]
  • F5:coagulation factor V [Gene - OMIM - HGNC]
  • CCDC181:coiled-coil domain containing 181 [Gene - HGNC]
  • CCDC190:coiled-coil domain containing 190 [Gene - HGNC]
  • DPT:dermatopontin [Gene - OMIM - HGNC]
  • DDR2:discoidin domain receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
  • DUSP12:dual specificity phosphatase 12 [Gene - OMIM - HGNC]
  • DNM3:dynamin 3 [Gene - OMIM - HGNC]
  • FAM78B:family with sequence similarity 78 member B [Gene - HGNC]
  • FMO1:flavin containing dimethylaniline monoxygenase 1 [Gene - OMIM - HGNC]
  • FMO2:flavin containing dimethylaniline monoxygenase 2 [Gene - OMIM - HGNC]
  • FMO3:flavin containing dimethylaniline monoxygenase 3 [Gene - OMIM - HGNC]
  • FMO4:flavin containing dimethylaniline monoxygenase 4 [Gene - OMIM - HGNC]
  • GPA33:glycoprotein A33 [Gene - OMIM - HGNC]
  • GORAB:golgin, RAB6 interacting [Gene - OMIM - HGNC]
  • GAS5:growth arrest specific 5 [Gene - OMIM - HGNC]
  • LOC112577509:hESC enhancers GRCh37_chr1:164581219-164581760 and GRCh37_chr1:164581219-164581760 [Gene]
  • HSD17B7:hydroxysteroid 17-beta dehydrogenase 7 [Gene - OMIM - HGNC]
  • ILDR2:immunoglobulin like domain containing receptor 2 [Gene - OMIM - HGNC]
  • KLHL20:kelch like family member 20 [Gene - OMIM - HGNC]
  • KIFAP3:kinesin associated protein 3 [Gene - OMIM - HGNC]
  • LRRC52:leucine rich repeat containing 52 [Gene - OMIM - HGNC]
  • LINC01142:long intergenic non-protein coding RNA 1142 [Gene - HGNC]
  • LINC01363:long intergenic non-protein coding RNA 1363 [Gene - HGNC]
  • LINC01675:long intergenic non-protein coding RNA 1675 [Gene - HGNC]
  • LINC01681:long intergenic non-protein coding RNA 1681 [Gene - HGNC]
  • LINC00626:long intergenic non-protein coding RNA 626 [Gene - HGNC]
  • LINC00970:long intergenic non-protein coding RNA 970 [Gene - HGNC]
  • MAEL:maelstrom spermatogenic transposon silencer [Gene - OMIM - HGNC]
  • MROH9:maestro heat like repeat family member 9 [Gene - HGNC]
  • METTL13:methyltransferase 13, eEF1A N-terminus and K55 [Gene - OMIM - HGNC]
  • METTL18:methyltransferase 18, RPL3 N3(tau)-histidine [Gene - OMIM - HGNC]
  • MIR1255B2:microRNA 1255b-2 [Gene - HGNC]
  • MIR1295A:microRNA 1295a [Gene - HGNC]
  • MIR1295B:microRNA 1295b [Gene - HGNC]
  • MIR199A2:microRNA 199a-2 [Gene - OMIM - HGNC]
  • MIR214:microRNA 214 [Gene - OMIM - HGNC]
  • MIR3119-1:microRNA 3119-1 [Gene - HGNC]
  • MIR3119-2:microRNA 3119-2 [Gene - HGNC]
  • MIR3120:microRNA 3120 [Gene - OMIM - HGNC]
  • MIR3658:microRNA 3658 [Gene - HGNC]
  • MIR4654:microRNA 4654 [Gene - HGNC]
  • MIR556:microRNA 556 [Gene - HGNC]
  • MIR557:microRNA 557 [Gene - HGNC]
  • MIR921:microRNA 921 [Gene - HGNC]
  • MGST3:microsomal glutathione S-transferase 3 [Gene - OMIM - HGNC]
  • MPC2:mitochondrial pyruvate carrier 2 [Gene - OMIM - HGNC]
  • MPZL1:myelin protein zero like 1 [Gene - OMIM - HGNC]
  • MYOCOS:myocilin opposite strand [Gene - HGNC]
  • MYOC:myocilin [Gene - OMIM - HGNC]
  • NOS1AP:nitric oxide synthase 1 adaptor protein [Gene - OMIM - HGNC]
  • OLFML2B:olfactomedin like 2B [Gene - HGNC]
  • PRRX1:paired related homeobox 1 [Gene - OMIM - HGNC]
  • PRDX6:peroxiredoxin 6 [Gene - OMIM - HGNC]
  • PIGC:phosphatidylinositol glycan anchor biosynthesis class C [Gene - OMIM - HGNC]
  • POGK:pogo transposable element derived with KRAB domain [Gene - OMIM - HGNC]
  • PRRC2C:proline rich coiled-coil 2C [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]
  • RC3H1:ring finger and CCCH-type domains 1 [Gene - OMIM - HGNC]
  • SELE:selectin E [Gene - OMIM - HGNC]
  • SELL:selectin L [Gene - OMIM - HGNC]
  • SELP:selectin P [Gene - OMIM - HGNC]
  • STYXL2:serine/threonine/tyrosine interacting like 2 [Gene - HGNC]
  • SERPINC1:serpin family C member 1 [Gene - OMIM - HGNC]
  • SNORD44:small nucleolar RNA, C/D box 44 [Gene - HGNC]
  • SNORD47:small nucleolar RNA, C/D box 47 [Gene - HGNC]
  • SNORD74:small nucleolar RNA, C/D box 74 [Gene - HGNC]
  • SNORD75:small nucleolar RNA, C/D box 75 [Gene - HGNC]
  • SNORD76:small nucleolar RNA, C/D box 76 [Gene - HGNC]
  • SNORD77:small nucleolar RNA, C/D box 77 [Gene - HGNC]
  • SNORD78:small nucleolar RNA, C/D box 78 [Gene - HGNC]
  • SNORD79:small nucleolar RNA, C/D box 79 [Gene - HGNC]
  • SNORD80:small nucleolar RNA, C/D box 80 [Gene - HGNC]
  • SNORD81:small nucleolar RNA, C/D box 81 [Gene - HGNC]
  • SNORA103:small nucleolar RNA, H/ACA box 103 [Gene - HGNC]
  • SLC19A2:solute carrier family 19 member 2 [Gene - OMIM - HGNC]
  • SLC9C2:solute carrier family 9 member C2 (putative) [Gene - OMIM - HGNC]
  • SPATA46:spermatogenesis associated 46 [Gene - OMIM - HGNC]
  • TRP-AGG2-1:tRNA-Pro (anticodon AGG) 2-1 [Gene - HGNC]
  • TRP-CGG1-1:tRNA-Pro (anticodon CGG) 1-1 [Gene - HGNC]
  • TEX50:testis expressed 50 [Gene - HGNC]
  • TADA1:transcriptional adaptor 1 [Gene - OMIM - HGNC]
  • TMCO1:transmembrane and coiled-coil domains 1 [Gene - OMIM - HGNC]
  • LOC100505918:uncharacterized LOC100505918 [Gene]
  • LOC100506023:uncharacterized LOC100506023 [Gene]
  • LOC101928565:uncharacterized LOC101928565 [Gene]
  • LOC101928596:uncharacterized LOC101928596 [Gene]
  • LOC125312414:uncharacterized LOC125312414 [Gene]
  • LOC127814295:uncharacterized LOC127814295 [Gene]
  • UCK2:uridine-cytidine kinase 2 [Gene - OMIM - HGNC]
  • VAMP4:vesicle associated membrane protein 4 [Gene - OMIM - HGNC]
  • ZBTB37:zinc finger and BTB domain containing 37 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q23.3-25.1
Genomic location:
Preferred name:
GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1
HGVS:
  • NC_000001.11:g.(?_161740907)_(173965154_?)del
  • NC_000001.10:g.(?_161710697)_(173934292_?)del
  • NC_000001.9:g.(?_159977321)_(172200915_?)del
Links:
dbVar: nssv577229; dbVar: nsv532581
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
SCV000081277GeneDx
criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 GeneDx, SCV000081277.5

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

Last Updated: Oct 14, 2023