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GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 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:
RCV000051856.5

Allele description [Variation Report for GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3]

GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3

Genes:
  • ABL2:ABL proto-oncogene 2, non-receptor tyrosine kinase [Gene - OMIM - HGNC]
  • 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]
  • LOC129931942:ATAC-STARR-seq lymphoblastoid active region 2119 [Gene]
  • LOC129931946:ATAC-STARR-seq lymphoblastoid active region 2120 [Gene]
  • LOC129931949:ATAC-STARR-seq lymphoblastoid active region 2121 [Gene]
  • LOC129931950:ATAC-STARR-seq lymphoblastoid active region 2122 [Gene]
  • LOC129931953:ATAC-STARR-seq lymphoblastoid active region 2123 [Gene]
  • LOC129931955:ATAC-STARR-seq lymphoblastoid active region 2124 [Gene]
  • LOC129931956:ATAC-STARR-seq lymphoblastoid active region 2125 [Gene]
  • LOC129931958:ATAC-STARR-seq lymphoblastoid active region 2128 [Gene]
  • LOC129931959:ATAC-STARR-seq lymphoblastoid active region 2129 [Gene]
  • LOC129931960:ATAC-STARR-seq lymphoblastoid active region 2130 [Gene]
  • LOC129931961:ATAC-STARR-seq lymphoblastoid active region 2131 [Gene]
  • LOC129931962:ATAC-STARR-seq lymphoblastoid active region 2132 [Gene]
  • LOC129931963:ATAC-STARR-seq lymphoblastoid active region 2133 [Gene]
  • LOC129931964:ATAC-STARR-seq lymphoblastoid active region 2134 [Gene]
  • LOC129931966:ATAC-STARR-seq lymphoblastoid active region 2135 [Gene]
  • LOC129931967:ATAC-STARR-seq lymphoblastoid active region 2136 [Gene]
  • LOC129931968:ATAC-STARR-seq lymphoblastoid active region 2137 [Gene]
  • LOC129931970:ATAC-STARR-seq lymphoblastoid active region 2138 [Gene]
  • LOC129931971:ATAC-STARR-seq lymphoblastoid active region 2139 [Gene]
  • LOC129931974:ATAC-STARR-seq lymphoblastoid active region 2140 [Gene]
  • LOC129931977:ATAC-STARR-seq lymphoblastoid active region 2141 [Gene]
  • LOC129931980:ATAC-STARR-seq lymphoblastoid active region 2142 [Gene]
  • LOC129931983:ATAC-STARR-seq lymphoblastoid active region 2143 [Gene]
  • LOC129931984:ATAC-STARR-seq lymphoblastoid active region 2144 [Gene]
  • LOC129931985:ATAC-STARR-seq lymphoblastoid active region 2145 [Gene]
  • LOC129931986:ATAC-STARR-seq lymphoblastoid active region 2146 [Gene]
  • LOC129931987:ATAC-STARR-seq lymphoblastoid active region 2147 [Gene]
  • LOC129931988:ATAC-STARR-seq lymphoblastoid active region 2148 [Gene]
  • LOC129931995:ATAC-STARR-seq lymphoblastoid active region 2149 [Gene]
  • LOC129931997:ATAC-STARR-seq lymphoblastoid active region 2150 [Gene]
  • LOC129931998:ATAC-STARR-seq lymphoblastoid active region 2151 [Gene]
  • LOC129932000:ATAC-STARR-seq lymphoblastoid active region 2152 [Gene]
  • LOC129932001:ATAC-STARR-seq lymphoblastoid active region 2153 [Gene]
  • LOC129932002:ATAC-STARR-seq lymphoblastoid active region 2154 [Gene]
  • LOC129932003:ATAC-STARR-seq lymphoblastoid active region 2157 [Gene]
  • LOC129932004:ATAC-STARR-seq lymphoblastoid active region 2158 [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]
  • LOC129931943:ATAC-STARR-seq lymphoblastoid silent region 1558 [Gene]
  • LOC129931944:ATAC-STARR-seq lymphoblastoid silent region 1559 [Gene]
  • LOC129931945:ATAC-STARR-seq lymphoblastoid silent region 1560 [Gene]
  • LOC129931947:ATAC-STARR-seq lymphoblastoid silent region 1561 [Gene]
  • LOC129931948:ATAC-STARR-seq lymphoblastoid silent region 1562 [Gene]
  • LOC129931951:ATAC-STARR-seq lymphoblastoid silent region 1563 [Gene]
  • LOC129931952:ATAC-STARR-seq lymphoblastoid silent region 1564 [Gene]
  • LOC129931954:ATAC-STARR-seq lymphoblastoid silent region 1565 [Gene]
  • LOC129931957:ATAC-STARR-seq lymphoblastoid silent region 1566 [Gene]
  • LOC129931965:ATAC-STARR-seq lymphoblastoid silent region 1567 [Gene]
  • LOC129931969:ATAC-STARR-seq lymphoblastoid silent region 1568 [Gene]
  • LOC129931972:ATAC-STARR-seq lymphoblastoid silent region 1569 [Gene]
  • LOC129931973:ATAC-STARR-seq lymphoblastoid silent region 1570 [Gene]
  • LOC129931975:ATAC-STARR-seq lymphoblastoid silent region 1571 [Gene]
  • LOC129931976:ATAC-STARR-seq lymphoblastoid silent region 1572 [Gene]
  • LOC129931978:ATAC-STARR-seq lymphoblastoid silent region 1575 [Gene]
  • LOC129931979:ATAC-STARR-seq lymphoblastoid silent region 1576 [Gene]
  • LOC129931981:ATAC-STARR-seq lymphoblastoid silent region 1577 [Gene]
  • LOC129931982:ATAC-STARR-seq lymphoblastoid silent region 1578 [Gene]
  • LOC129931989:ATAC-STARR-seq lymphoblastoid silent region 1582 [Gene]
  • LOC129931990:ATAC-STARR-seq lymphoblastoid silent region 1583 [Gene]
  • LOC129931991:ATAC-STARR-seq lymphoblastoid silent region 1584 [Gene]
  • LOC129931992:ATAC-STARR-seq lymphoblastoid silent region 1585 [Gene]
  • LOC129931993:ATAC-STARR-seq lymphoblastoid silent region 1586 [Gene]
  • LOC129931994:ATAC-STARR-seq lymphoblastoid silent region 1587 [Gene]
  • LOC129931996:ATAC-STARR-seq lymphoblastoid silent region 1589 [Gene]
  • LOC129931999:ATAC-STARR-seq lymphoblastoid silent region 1590 [Gene]
  • ATP1B1:ATPase Na+/K+ transporting subunit beta 1 [Gene - OMIM - HGNC]
  • BRINP2:BMP/retinoic acid inducible neural specific 2 [Gene - OMIM - HGNC]
  • 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]
  • LOC126805927:BRD4-independent group 4 enhancer GRCh37_chr1:175036290-175037489 [Gene]
  • LOC126805930:BRD4-independent group 4 enhancer GRCh37_chr1:177029877-177031076 [Gene]
  • LOC126805936:BRD4-independent group 4 enhancer GRCh37_chr1:178653106-178654305 [Gene]
  • CLEC20A:C-type lectin domain containing 20A [Gene - HGNC]
  • CD247:CD247 molecule [Gene - OMIM - HGNC]
  • 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]
  • LOC126805931:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:177224616-177225815 [Gene]
  • LOC126805933:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:178386599-178387798 [Gene]
  • LOC126805935:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:178621695-178622894 [Gene]
  • COP1:COP1 E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • COP1-DT:COP1 divergent transcript [Gene - HGNC]
  • LOC115801456:CRISPRi-validated cis-regulatory element chr1.10033 [Gene]
  • LOC115801454:CRISPRi-validated cis-regulatory element chr1.9777 [Gene]
  • LOC115801455:CRISPRi-validated cis-regulatory element chr1.9913 [Gene]
  • CRYZL2P-SEC16B:CRYZL2P-SEC16B readthrough [Gene - HGNC]
  • 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]
  • FAM20B:FAM20B glycosaminoglycan xylosylkinase [Gene - OMIM - 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]
  • GPR52:G protein-coupled receptor 52 [Gene - OMIM - HGNC]
  • GAS5-AS1:GAS5 antisense RNA 1 [Gene - HGNC]
  • LOC111464988:GATA motif-containing MPRA enhancer 235 [Gene]
  • LOC111556138:GATA motif-containing MPRA enhancer 65 [Gene]
  • GORAB-AS1:GORAB antisense RNA 1 [Gene - HGNC]
  • KIAA0040:KIAA0040 [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]
  • 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]
  • LOC126805925:MED14-independent group 3 enhancer GRCh37_chr1:174817888-174819087 [Gene]
  • LOC126805928:MED14-independent group 3 enhancer GRCh37_chr1:175238074-175239273 [Gene]
  • LOC126805929:MED14-independent group 3 enhancer GRCh37_chr1:176525984-176527183 [Gene]
  • LOC126805937:MED14-independent group 3 enhancer GRCh37_chr1:179111778-179112977 [Gene]
  • LOC126805938:MED14-independent group 3 enhancer GRCh37_chr1:179486027-179487226 [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]
  • LOC129388636:MPRA-validated peak465 silencer [Gene]
  • LOC129388637:MPRA-validated peak466 silencer [Gene]
  • LOC129388638:MPRA-validated peak467 silencer [Gene]
  • LOC129388639:MPRA-validated peak469 silencer [Gene]
  • LOC129388640:MPRA-validated peak471 silencer [Gene]
  • LOC129388641:MPRA-validated peak472 silencer [Gene]
  • LOC129388642:MPRA-validated peak473 silencer [Gene]
  • LOC129388643:MPRA-validated peak474 silencer [Gene]
  • LOC129388644:MPRA-validated peak475 silencer [Gene]
  • LOC129388645:MPRA-validated peak476 silencer [Gene]
  • LOC129388646:MPRA-validated peak477 silencer [Gene]
  • NTMT2:N-terminal Xaa-Pro-Lys N-methyltransferase 2 [Gene - HGNC]
  • NME7:NME/NM23 family member 7 [Gene - OMIM - HGNC]
  • NPHS2:NPHS2 stomatin family member, podocin [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]
  • 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]
  • 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]
  • LOC126805926:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:175023596-175024795 [Gene]
  • LOC126805932:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:177883789-177884988 [Gene]
  • LOC126805934:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:178505524-178506723 [Gene]
  • POU2F1:POU class 2 homeobox 1 [Gene - OMIM - HGNC]
  • POU2F1-DT:POU2F1 divergent transcript [Gene - HGNC]
  • PRDX6-AS1:PRDX6 antisense RNA 1 [Gene - HGNC]
  • RABGAP1L:RAB GTPase activating protein 1 like [Gene - OMIM - HGNC]
  • RABGAP1L-AS1:RABGAP1L antisense RNA 1 [Gene - HGNC]
  • RABGAP1L-DT:RABGAP1L divergent transcript [Gene - HGNC]
  • RALGPS2-AS1:RALGPS2 antisense RNA 1 [Gene - HGNC]
  • RASAL2:RAS protein activator like 2 [Gene - OMIM - HGNC]
  • RASAL2-AS1:RASAL2 antisense RNA 1 [Gene - HGNC]
  • RC3H1-DT:RC3H1 divergent transcript [Gene - HGNC]
  • RCSD1:RCSD domain containing 1 [Gene - OMIM - HGNC]
  • RALGPS2:Ral GEF with PH domain and SH3 binding motif 2 [Gene - OMIM - HGNC]
  • SCYL3:SCY1 like pseudokinase 3 [Gene - OMIM - HGNC]
  • SEC16B:SEC16 homolog B, endoplasmic reticulum export factor [Gene - OMIM - HGNC]
  • SFT2D2:SFT2 domain containing 2 [Gene - HGNC]
  • SUCO:SUN domain containing ossification factor [Gene - OMIM - HGNC]
  • LOC113939980:Sharpr-MPRA regulatory region 1052 [Gene]
  • LOC112577515:Sharpr-MPRA regulatory region 10542 [Gene]
  • LOC122128467:Sharpr-MPRA regulatory region 10580 [Gene]
  • LOC122149296:Sharpr-MPRA regulatory region 10840 [Gene]
  • LOC122149316:Sharpr-MPRA regulatory region 11809 [Gene]
  • LOC122149293:Sharpr-MPRA regulatory region 11959 [Gene]
  • LOC122149315:Sharpr-MPRA regulatory region 12139 [Gene]
  • LOC122149314:Sharpr-MPRA regulatory region 1317 [Gene]
  • LOC122128469:Sharpr-MPRA regulatory region 13653 [Gene]
  • LOC112577517:Sharpr-MPRA regulatory region 13766 [Gene]
  • LOC112577513:Sharpr-MPRA regulatory region 13770 [Gene]
  • LOC122149295:Sharpr-MPRA regulatory region 1485 [Gene]
  • LOC122149312:Sharpr-MPRA regulatory region 1508 [Gene]
  • LOC122149310:Sharpr-MPRA regulatory region 15603 [Gene]
  • LOC122128466:Sharpr-MPRA regulatory region 1747 [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]
  • LOC122149313:Sharpr-MPRA regulatory region 3505 [Gene]
  • LOC122128472:Sharpr-MPRA regulatory region 4419 [Gene]
  • LOC120893166:Sharpr-MPRA regulatory region 4605 [Gene]
  • LOC121725064:Sharpr-MPRA regulatory region 4744 [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]
  • LOC122149311:Sharpr-MPRA regulatory region 6447 [Gene]
  • LOC112577510:Sharpr-MPRA regulatory region 6776 [Gene]
  • LOC122149308:Sharpr-MPRA regulatory region 679 [Gene]
  • LOC122149292:Sharpr-MPRA regulatory region 7850 [Gene]
  • LOC122149309:Sharpr-MPRA regulatory region 797 [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]
  • LOC110121063:VISTA enhancer hs1331 [Gene]
  • LOC110121105:VISTA enhancer hs1442 [Gene]
  • XCL1:X-C motif chemokine ligand 1 [Gene - OMIM - HGNC]
  • XCL2:X-C motif chemokine ligand 2 [Gene - OMIM - HGNC]
  • ADCY10:adenylate cyclase 10 [Gene - OMIM - HGNC]
  • ALDH9A1:aldehyde dehydrogenase 9 family member A1 [Gene - OMIM - HGNC]
  • ANGPTL1:angiopoietin like 1 [Gene - OMIM - HGNC]
  • ANKRD45:ankyrin repeat domain 45 [Gene - OMIM - HGNC]
  • DARS2:aspartyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • ASTN1:astrotactin 1 [Gene - OMIM - HGNC]
  • AXDND1:axonemal dynein light chain domain containing 1 [Gene - HGNC]
  • BLZF1:basic leucine zipper nuclear factor 1 [Gene - OMIM - HGNC]
  • CACYBP:calcyclin binding protein [Gene - OMIM - HGNC]
  • CREG1:cellular repressor of E1A stimulated genes 1 [Gene - OMIM - HGNC]
  • CENPL:centromere protein L [Gene - OMIM - HGNC]
  • CEP350:centrosomal protein 350 [Gene - OMIM - HGNC]
  • C1orf105:chromosome 1 open reading frame 105 [Gene - HGNC]
  • C1orf220:chromosome 1 putative open reading frame 220 [Gene - HGNC]
  • F5:coagulation factor V [Gene - OMIM - HGNC]
  • CCDC181:coiled-coil domain containing 181 [Gene - HGNC]
  • DPT:dermatopontin [Gene - OMIM - HGNC]
  • DNM3:dynamin 3 [Gene - OMIM - HGNC]
  • FAM163A:family with sequence similarity 163 member A [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]
  • 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]
  • LINC01645:long intergenic non-protein coding RNA 1645 [Gene - HGNC]
  • LINC01657:long intergenic non-protein coding RNA 1657 [Gene - HGNC]
  • LINC01675:long intergenic non-protein coding RNA 1675 [Gene - HGNC]
  • LINC01681:long intergenic non-protein coding RNA 1681 [Gene - HGNC]
  • LINC01741:long intergenic non-protein coding RNA 1741 [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]
  • MIR12116:microRNA 12116 [Gene - HGNC]
  • MIR1255B2:microRNA 1255b-2 [Gene - HGNC]
  • MIR1295A:microRNA 1295a [Gene - HGNC]
  • MIR1295B:microRNA 1295b [Gene - HGNC]
  • MIR1843:microRNA 1843 [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]
  • MIR4424:microRNA 4424 [Gene - HGNC]
  • MIR488:microRNA 488 [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]
  • MRPS14:mitochondrial ribosomal protein S14 [Gene - OMIM - HGNC]
  • MPZL1:myelin protein zero like 1 [Gene - OMIM - HGNC]
  • MYOCOS:myocilin opposite strand [Gene - HGNC]
  • MYOC:myocilin [Gene - OMIM - HGNC]
  • LOC120766158:negCOR silencer S4 [Gene]
  • PRRX1:paired related homeobox 1 [Gene - OMIM - HGNC]
  • PAPPA2:pappalysin 2 [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]
  • 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]
  • SCARNA3:small Cajal body-specific RNA 3 [Gene - 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]
  • SOAT1:sterol O-acyltransferase 1 [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]
  • TNN:tenascin N [Gene - OMIM - HGNC]
  • TNR:tenascin R [Gene - OMIM - HGNC]
  • TEX35:testis expressed 35 [Gene - HGNC]
  • TEX50:testis expressed 50 [Gene - HGNC]
  • TOR1AIP1:torsin 1A interacting protein 1 [Gene - OMIM - HGNC]
  • TOR1AIP2:torsin 1A interacting protein 2 [Gene - OMIM - HGNC]
  • TOR3A:torsin family 3 member A [Gene - OMIM - HGNC]
  • TADA1:transcriptional adaptor 1 [Gene - OMIM - HGNC]
  • TMCO1:transmembrane and coiled-coil domains 1 [Gene - OMIM - HGNC]
  • TDRD5:tudor domain containing 5 [Gene - OMIM - HGNC]
  • LOC100505918:uncharacterized LOC100505918 [Gene]
  • LOC100506023:uncharacterized LOC100506023 [Gene]
  • LOC101928565:uncharacterized LOC101928565 [Gene]
  • LOC101928596:uncharacterized LOC101928596 [Gene]
  • LOC105371622:uncharacterized LOC105371622 [Gene]
  • LOC125312414:uncharacterized LOC125312414 [Gene]
  • LOC128071543:uncharacterized LOC128071543 [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 gain
Cytogenetic location:
1q23.3-25.2
Genomic location:
Preferred name:
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3
HGVS:
  • NC_000001.11:g.(?_164922655)_(180061589_?)dup
  • NC_000001.10:g.(?_164891892)_(180030724_?)dup
  • NC_000001.9:g.(?_163158516)_(178297347_?)dup
Links:
dbVar: nssv578537; dbVar: nsv530569
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
SCV000079204GeneDx
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 GeneDx, SCV000079204.4

#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