GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3 AND See cases

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 21, 2012
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000139359.5

Allele description

GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3

Genes:

LOC129937854:ATAC-STARR-seq lymphoblastoid active region 20770 [Gene]
LOC129937857:ATAC-STARR-seq lymphoblastoid active region 20771 [Gene]
LOC129937858:ATAC-STARR-seq lymphoblastoid active region 20772 [Gene]
LOC129937859:ATAC-STARR-seq lymphoblastoid active region 20773 [Gene]
LOC129937861:ATAC-STARR-seq lymphoblastoid active region 20774 [Gene]
LOC129937862:ATAC-STARR-seq lymphoblastoid active region 20775 [Gene]
LOC129937863:ATAC-STARR-seq lymphoblastoid active region 20776 [Gene]
LOC129937865:ATAC-STARR-seq lymphoblastoid active region 20777 [Gene]
LOC129937867:ATAC-STARR-seq lymphoblastoid active region 20778 [Gene]
LOC129937868:ATAC-STARR-seq lymphoblastoid active region 20779 [Gene]
LOC129937871:ATAC-STARR-seq lymphoblastoid active region 20782 [Gene]
LOC129937872:ATAC-STARR-seq lymphoblastoid active region 20783 [Gene]
LOC129937873:ATAC-STARR-seq lymphoblastoid active region 20784 [Gene]
LOC129937875:ATAC-STARR-seq lymphoblastoid active region 20786 [Gene]
LOC129937876:ATAC-STARR-seq lymphoblastoid active region 20787 [Gene]
LOC129937877:ATAC-STARR-seq lymphoblastoid active region 20788 [Gene]
LOC129937878:ATAC-STARR-seq lymphoblastoid active region 20789 [Gene]
LOC129937879:ATAC-STARR-seq lymphoblastoid active region 20790 [Gene]
LOC129937880:ATAC-STARR-seq lymphoblastoid active region 20791 [Gene]
LOC129937881:ATAC-STARR-seq lymphoblastoid active region 20792 [Gene]
LOC129937884:ATAC-STARR-seq lymphoblastoid active region 20793 [Gene]
LOC129937885:ATAC-STARR-seq lymphoblastoid active region 20794 [Gene]
LOC129937886:ATAC-STARR-seq lymphoblastoid active region 20795 [Gene]
LOC129937887:ATAC-STARR-seq lymphoblastoid active region 20796 [Gene]
LOC129937888:ATAC-STARR-seq lymphoblastoid active region 20797 [Gene]
LOC129937889:ATAC-STARR-seq lymphoblastoid active region 20798 [Gene]
LOC129937892:ATAC-STARR-seq lymphoblastoid active region 20799 [Gene]
LOC129937893:ATAC-STARR-seq lymphoblastoid active region 20800 [Gene]
LOC129937894:ATAC-STARR-seq lymphoblastoid active region 20801 [Gene]
LOC129937897:ATAC-STARR-seq lymphoblastoid active region 20802 [Gene]
LOC129937898:ATAC-STARR-seq lymphoblastoid active region 20803 [Gene]
LOC129937903:ATAC-STARR-seq lymphoblastoid active region 20804 [Gene]
LOC129937904:ATAC-STARR-seq lymphoblastoid active region 20805 [Gene]
LOC129937905:ATAC-STARR-seq lymphoblastoid active region 20806 [Gene]
LOC129937906:ATAC-STARR-seq lymphoblastoid active region 20807 [Gene]
LOC129937910:ATAC-STARR-seq lymphoblastoid active region 20808 [Gene]
LOC129937911:ATAC-STARR-seq lymphoblastoid active region 20809 [Gene]
LOC129937912:ATAC-STARR-seq lymphoblastoid active region 20810 [Gene]
LOC129937913:ATAC-STARR-seq lymphoblastoid active region 20811 [Gene]
LOC129937914:ATAC-STARR-seq lymphoblastoid active region 20812 [Gene]
LOC129937915:ATAC-STARR-seq lymphoblastoid active region 20813 [Gene]
LOC129937917:ATAC-STARR-seq lymphoblastoid active region 20814 [Gene]
LOC129937918:ATAC-STARR-seq lymphoblastoid active region 20815 [Gene]
LOC129937921:ATAC-STARR-seq lymphoblastoid active region 20816 [Gene]
LOC129937922:ATAC-STARR-seq lymphoblastoid active region 20817 [Gene]
LOC129937923:ATAC-STARR-seq lymphoblastoid active region 20818 [Gene]
LOC129937924:ATAC-STARR-seq lymphoblastoid active region 20819 [Gene]
LOC129937925:ATAC-STARR-seq lymphoblastoid active region 20820 [Gene]
LOC129937926:ATAC-STARR-seq lymphoblastoid active region 20821 [Gene]
LOC129937927:ATAC-STARR-seq lymphoblastoid active region 20824 [Gene]
LOC129937928:ATAC-STARR-seq lymphoblastoid active region 20825 [Gene]
LOC129937929:ATAC-STARR-seq lymphoblastoid active region 20826 [Gene]
LOC129937930:ATAC-STARR-seq lymphoblastoid active region 20828 [Gene]
LOC129937931:ATAC-STARR-seq lymphoblastoid active region 20831 [Gene]
LOC129937932:ATAC-STARR-seq lymphoblastoid active region 20832 [Gene]
LOC129937933:ATAC-STARR-seq lymphoblastoid active region 20833 [Gene]
LOC129937937:ATAC-STARR-seq lymphoblastoid active region 20834 [Gene]
LOC129937938:ATAC-STARR-seq lymphoblastoid active region 20835 [Gene]
LOC129937939:ATAC-STARR-seq lymphoblastoid active region 20836 [Gene]
LOC129937940:ATAC-STARR-seq lymphoblastoid active region 20837 [Gene]
LOC129937942:ATAC-STARR-seq lymphoblastoid active region 20838 [Gene]
LOC129937944:ATAC-STARR-seq lymphoblastoid active region 20839 [Gene]
LOC129937945:ATAC-STARR-seq lymphoblastoid active region 20841 [Gene]
LOC129937946:ATAC-STARR-seq lymphoblastoid active region 20842 [Gene]
LOC129937947:ATAC-STARR-seq lymphoblastoid active region 20844 [Gene]
LOC129937948:ATAC-STARR-seq lymphoblastoid active region 20845 [Gene]
LOC129937949:ATAC-STARR-seq lymphoblastoid active region 20846 [Gene]
LOC129937950:ATAC-STARR-seq lymphoblastoid active region 20847 [Gene]
LOC129937951:ATAC-STARR-seq lymphoblastoid active region 20848 [Gene]
LOC129937952:ATAC-STARR-seq lymphoblastoid active region 20849 [Gene]
LOC129937953:ATAC-STARR-seq lymphoblastoid active region 20850 [Gene]
LOC129937954:ATAC-STARR-seq lymphoblastoid active region 20851 [Gene]
LOC129937955:ATAC-STARR-seq lymphoblastoid active region 20852 [Gene]
LOC129937957:ATAC-STARR-seq lymphoblastoid active region 20853 [Gene]
LOC129937958:ATAC-STARR-seq lymphoblastoid active region 20854 [Gene]
LOC129937959:ATAC-STARR-seq lymphoblastoid active region 20855 [Gene]
LOC129937960:ATAC-STARR-seq lymphoblastoid active region 20856 [Gene]
LOC129937961:ATAC-STARR-seq lymphoblastoid active region 20857 [Gene]
LOC129937962:ATAC-STARR-seq lymphoblastoid active region 20858 [Gene]
LOC129937965:ATAC-STARR-seq lymphoblastoid active region 20859 [Gene]
LOC129937966:ATAC-STARR-seq lymphoblastoid active region 20860 [Gene]
LOC129937967:ATAC-STARR-seq lymphoblastoid active region 20861 [Gene]
LOC129937968:ATAC-STARR-seq lymphoblastoid active region 20862 [Gene]
LOC129937972:ATAC-STARR-seq lymphoblastoid active region 20863 [Gene]
LOC129937975:ATAC-STARR-seq lymphoblastoid active region 20864 [Gene]
LOC129937976:ATAC-STARR-seq lymphoblastoid active region 20865 [Gene]
LOC129937978:ATAC-STARR-seq lymphoblastoid active region 20866 [Gene]
LOC129937979:ATAC-STARR-seq lymphoblastoid active region 20867 [Gene]
LOC129937985:ATAC-STARR-seq lymphoblastoid active region 20871 [Gene]
LOC129937986:ATAC-STARR-seq lymphoblastoid active region 20872 [Gene]
LOC129937987:ATAC-STARR-seq lymphoblastoid active region 20873 [Gene]
LOC129937855:ATAC-STARR-seq lymphoblastoid silent region 14866 [Gene]
LOC129937856:ATAC-STARR-seq lymphoblastoid silent region 14867 [Gene]
LOC129937860:ATAC-STARR-seq lymphoblastoid silent region 14868 [Gene]
LOC129937864:ATAC-STARR-seq lymphoblastoid silent region 14870 [Gene]
LOC129937866:ATAC-STARR-seq lymphoblastoid silent region 14871 [Gene]
LOC129937869:ATAC-STARR-seq lymphoblastoid silent region 14872 [Gene]
LOC129937870:ATAC-STARR-seq lymphoblastoid silent region 14873 [Gene]
LOC129937874:ATAC-STARR-seq lymphoblastoid silent region 14876 [Gene]
LOC129937882:ATAC-STARR-seq lymphoblastoid silent region 14877 [Gene]
LOC129937883:ATAC-STARR-seq lymphoblastoid silent region 14878 [Gene]
LOC129937890:ATAC-STARR-seq lymphoblastoid silent region 14880 [Gene]
LOC129937891:ATAC-STARR-seq lymphoblastoid silent region 14881 [Gene]
LOC129937895:ATAC-STARR-seq lymphoblastoid silent region 14882 [Gene]
LOC129937896:ATAC-STARR-seq lymphoblastoid silent region 14883 [Gene]
LOC129937899:ATAC-STARR-seq lymphoblastoid silent region 14884 [Gene]
LOC129937900:ATAC-STARR-seq lymphoblastoid silent region 14885 [Gene]
LOC129937901:ATAC-STARR-seq lymphoblastoid silent region 14886 [Gene]
LOC129937902:ATAC-STARR-seq lymphoblastoid silent region 14887 [Gene]
LOC129937907:ATAC-STARR-seq lymphoblastoid silent region 14888 [Gene]
LOC129937908:ATAC-STARR-seq lymphoblastoid silent region 14889 [Gene]
LOC129937909:ATAC-STARR-seq lymphoblastoid silent region 14890 [Gene]
LOC129937916:ATAC-STARR-seq lymphoblastoid silent region 14892 [Gene]
LOC129937919:ATAC-STARR-seq lymphoblastoid silent region 14893 [Gene]
LOC129937920:ATAC-STARR-seq lymphoblastoid silent region 14894 [Gene]
LOC129937934:ATAC-STARR-seq lymphoblastoid silent region 14899 [Gene]
LOC129937935:ATAC-STARR-seq lymphoblastoid silent region 14900 [Gene]
LOC129937936:ATAC-STARR-seq lymphoblastoid silent region 14901 [Gene]
LOC129937941:ATAC-STARR-seq lymphoblastoid silent region 14902 [Gene]
LOC129937943:ATAC-STARR-seq lymphoblastoid silent region 14906 [Gene]
LOC129937956:ATAC-STARR-seq lymphoblastoid silent region 14907 [Gene]
LOC129937963:ATAC-STARR-seq lymphoblastoid silent region 14908 [Gene]
LOC129937964:ATAC-STARR-seq lymphoblastoid silent region 14909 [Gene]
LOC129937969:ATAC-STARR-seq lymphoblastoid silent region 14912 [Gene]
LOC129937970:ATAC-STARR-seq lymphoblastoid silent region 14913 [Gene]
LOC129937971:ATAC-STARR-seq lymphoblastoid silent region 14914 [Gene]
LOC129937973:ATAC-STARR-seq lymphoblastoid silent region 14915 [Gene]
LOC129937974:ATAC-STARR-seq lymphoblastoid silent region 14916 [Gene]
LOC129937977:ATAC-STARR-seq lymphoblastoid silent region 14917 [Gene]
LOC129937980:ATAC-STARR-seq lymphoblastoid silent region 14918 [Gene]
LOC129937981:ATAC-STARR-seq lymphoblastoid silent region 14919 [Gene]
LOC129937982:ATAC-STARR-seq lymphoblastoid silent region 14920 [Gene]
LOC129937983:ATAC-STARR-seq lymphoblastoid silent region 14921 [Gene]
LOC129937984:ATAC-STARR-seq lymphoblastoid silent region 14922 [Gene]
LOC129937988:ATAC-STARR-seq lymphoblastoid silent region 14924 [Gene]
LOC129937989:ATAC-STARR-seq lymphoblastoid silent region 14925 [Gene]
LOC126806869:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:165177431-165178630 [Gene]
LOC126806870:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:165592326-165593525 [Gene]
LOC126806873:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:169281185-169282384 [Gene]
LOC126806874:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:171206252-171207451 [Gene]
LOC126806875:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:172309739-172310938 [Gene]
LOC126806876:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:174156710-174157909 [Gene]
LOC126806878:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:176755168-176756367 [Gene]
LOC115995531:CRISPRi-validated cis-regulatory element chr3.4789 [Gene]
LOC115995532:CRISPRi-validated cis-regulatory element chr3.4898 [Gene]
LOC115995533:CRISPRi-validated cis-regulatory element chr3.5052 [Gene]
LOC111413008:FOXA motif-containing MPRA enhancer 130 [Gene]
GNB4:G protein subunit beta 4 [Gene - OMIM - HGNC]
GPR160:G protein-coupled receptor 160 [Gene - HGNC]
LOC111365195:HNF1 motif-containing MPRA enhancer 67 [Gene]
KCNMB2-AS1:KCNMB2 antisense RNA 1 [Gene - HGNC]
MECOM:MDS1 and EVI1 complex locus [Gene - OMIM - HGNC]
MECOM-AS1:MECOM antisense RNA 1 [Gene - HGNC]
LOC126806877:MED14-independent group 3 enhancer GRCh37_chr3:176484349-176485548 [Gene]
LOC126806880:MED14-independent group 3 enhancer GRCh37_chr3:177174687-177175886 [Gene]
LOC129389161:MPRA-validated peak4903 silencer [Gene]
LOC129389162:MPRA-validated peak4905 silencer [Gene]
LOC129389163:MPRA-validated peak4908 silencer [Gene]
LOC129389164:MPRA-validated peak4911 silencer [Gene]
LOC129389165:MPRA-validated peak4913 silencer [Gene]
LOC129389166:MPRA-validated peak4915 silencer [Gene]
LOC129389167:MPRA-validated peak4916 silencer [Gene]
LOC129389168:MPRA-validated peak4917 silencer [Gene]
LOC129389169:MPRA-validated peak4918 silencer [Gene]
LOC129389170:MPRA-validated peak4920 silencer [Gene]
LOC129389171:MPRA-validated peak4922 silencer [Gene]
LOC129389172:MPRA-validated peak4924 silencer [Gene]
LOC129389173:MPRA-validated peak4925 silencer [Gene]
LOC129389174:MPRA-validated peak4926 silencer [Gene]
LOC129389175:MPRA-validated peak4933 silencer [Gene]
LOC129389176:MPRA-validated peak4934 silencer [Gene]
LOC129389177:MPRA-validated peak4935 silencer [Gene]
LOC129389178:MPRA-validated peak4936 silencer [Gene]
LOC129389179:MPRA-validated peak4943 silencer [Gene]
LOC129389180:MPRA-validated peak4945 silencer [Gene]
LOC129389181:MPRA-validated peak4947 silencer [Gene]
LOC129389182:MPRA-validated peak4949 silencer [Gene]
NAALADL2:N-acetylated alpha-linked acidic dipeptidase like 2 [Gene - OMIM - HGNC]
NAALADL2-AS1:NAALADL2 antisense RNA 1 [Gene - HGNC]
NAALADL2-AS2:NAALADL2 antisense RNA 2 [Gene - HGNC]
NAALADL2-AS3:NAALADL2 antisense RNA 3 [Gene - HGNC]
NDUFB5:NADH:ubiquinone oxidoreductase subunit B5 [Gene - OMIM - HGNC]
NLGN1-AS1:NLGN1 antisense RNA 1 [Gene - HGNC]
LOC132088902:Neanderthal introgressed variant-containing enhancer experimental_66573 [Gene]
LOC132088903:Neanderthal introgressed variant-containing enhancer experimental_66618 [Gene]
LOC132088904:Neanderthal introgressed variant-containing enhancer experimental_66711 [Gene]
LOC132088905:Neanderthal introgressed variant-containing enhancer experimental_66754 [Gene]
LOC126806871:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:166380535-166381734 [Gene]
LOC126806872:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:169027108-169028307 [Gene]
LOC112935910:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:172428309-172429508 [Gene]
LOC126806879:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:177011460-177012659 [Gene]
PEX5L-AS2:PEX5L antisense RNA 2 [Gene - HGNC]
PIK3CA-DT:PIK3CA divergent transcript [Gene - HGNC]
SEC62:SEC62 homolog, preprotein translocation factor [Gene - OMIM - HGNC]
SKIL:SKI like proto-oncogene [Gene - OMIM - HGNC]
SLC7A14-AS1:SLC7A14 antisense RNA 1 [Gene - HGNC]
SLITRK3:SLIT and NTRK like family member 3 [Gene - OMIM - HGNC]
LOC123230409:Sharpr-MPRA regulatory region 1003 [Gene]
LOC121725162:Sharpr-MPRA regulatory region 10654 [Gene]
LOC123256947:Sharpr-MPRA regulatory region 10853 [Gene]
LOC121725164:Sharpr-MPRA regulatory region 11026 [Gene]
LOC121048723:Sharpr-MPRA regulatory region 11565 [Gene]
LOC112935907:Sharpr-MPRA regulatory region 12227 [Gene]
LOC123256952:Sharpr-MPRA regulatory region 12572 [Gene]
LOC123230411:Sharpr-MPRA regulatory region 12788 [Gene]
LOC123230413:Sharpr-MPRA regulatory region 13471 [Gene]
LOC123256946:Sharpr-MPRA regulatory region 13561 [Gene]
LOC112935904:Sharpr-MPRA regulatory region 14107 [Gene]
LOC123256941:Sharpr-MPRA regulatory region 14501 [Gene]
LOC123256951:Sharpr-MPRA regulatory region 14541 [Gene]
LOC112935909:Sharpr-MPRA regulatory region 14584 [Gene]
LOC123230412:Sharpr-MPRA regulatory region 14633 [Gene]
LOC123256949:Sharpr-MPRA regulatory region 14869 [Gene]
LOC123256944:Sharpr-MPRA regulatory region 14988 [Gene]
LOC123230414:Sharpr-MPRA regulatory region 15581 [Gene]
LOC123230410:Sharpr-MPRA regulatory region 1564 [Gene]
LOC121048722:Sharpr-MPRA regulatory region 1756 [Gene]
LOC123256943:Sharpr-MPRA regulatory region 253 [Gene]
LOC123256940:Sharpr-MPRA regulatory region 2749 [Gene]
LOC123230415:Sharpr-MPRA regulatory region 3413 [Gene]
LOC112935912:Sharpr-MPRA regulatory region 36 [Gene]
LOC112935908:Sharpr-MPRA regulatory region 4529 [Gene]
LOC123256948:Sharpr-MPRA regulatory region 4767 [Gene]
LOC121725160:Sharpr-MPRA regulatory region 4779 [Gene]
LOC112935906:Sharpr-MPRA regulatory region 5121 [Gene]
LOC123256950:Sharpr-MPRA regulatory region 5391 [Gene]
LOC112935911:Sharpr-MPRA regulatory region 5683 [Gene]
LOC114004375:Sharpr-MPRA regulatory region 6075 [Gene]
LOC121725161:Sharpr-MPRA regulatory region 6188 [Gene]
LOC123230408:Sharpr-MPRA regulatory region 6960 [Gene]
LOC123256942:Sharpr-MPRA regulatory region 706 [Gene]
LOC123256953:Sharpr-MPRA regulatory region 7561 [Gene]
LOC112935905:Sharpr-MPRA regulatory region 7912 [Gene]
LOC121048721:Sharpr-MPRA regulatory region 7963 [Gene]
LOC123256945:Sharpr-MPRA regulatory region 8736 [Gene]
LOC121725163:Sharpr-MPRA regulatory region 9868 [Gene]
TBL1XR1:TBL1X/Y related 1 [Gene - OMIM - HGNC]
TBL1XR1-AS1:TBL1XR1 antisense RNA 1 [Gene - HGNC]
TMEM212-AS1:TMEM212 antisense RNA 1 [Gene - HGNC]
TNFSF10:TNF superfamily member 10 [Gene - OMIM - HGNC]
TNIK:TRAF2 and NCK interacting kinase [Gene - OMIM - HGNC]
LOC110121102:VISTA enhancer hs1433 [Gene]
LOC114827826:VISTA enhancer hs2120 [Gene]
WDR49:WD repeat domain 49 [Gene - HGNC]
ACTL6A:actin like 6A [Gene - OMIM - HGNC]
ACTRT3:actin related protein T3 [Gene - OMIM - HGNC]
BCHE:butyrylcholinesterase [Gene - OMIM - HGNC]
CLDN11:claudin 11 [Gene - OMIM - HGNC]
ECT2:epithelial cell transforming 2 [Gene - OMIM - HGNC]
EIF5A2:eukaryotic translation initiation factor 5A2 [Gene - OMIM - HGNC]
FNDC3B:fibronectin type III domain containing 3B [Gene - OMIM - HGNC]
GOLIM4:golgi integral membrane protein 4 [Gene - OMIM - HGNC]
GHSR:growth hormone secretagogue receptor [Gene - OMIM - HGNC]
LRRC31:leucine rich repeat containing 31 [Gene - HGNC]
LRRC34:leucine rich repeat containing 34 [Gene - OMIM - HGNC]
LRRIQ4:leucine rich repeats and IQ motif containing 4 [Gene - HGNC]
LINC01014:long intergenic non-protein coding RNA 1014 [Gene - HGNC]
LINC01208:long intergenic non-protein coding RNA 1208 [Gene - HGNC]
LINC01209:long intergenic non-protein coding RNA 1209 [Gene - HGNC]
LINC01322:long intergenic non-protein coding RNA 1322 [Gene - HGNC]
LINC01327:long intergenic non-protein coding RNA 1327 [Gene - HGNC]
LINC01997:long intergenic non-protein coding RNA 1997 [Gene - HGNC]
LINC02015:long intergenic non-protein coding RNA 2015 [Gene - HGNC]
LINC02068:long intergenic non-protein coding RNA 2068 [Gene - HGNC]
LINC02082:long intergenic non-protein coding RNA 2082 [Gene - HGNC]
LINC00501:long intergenic non-protein coding RNA 501 [Gene - HGNC]
LINC00578:long intergenic non-protein coding RNA 578 [Gene - HGNC]
LOC128772257:melanoma risk locus-associated MPRA allelic enhancer 3:169486144 [Gene]
LOC128772258:melanoma risk locus-associated MPRA allelic enhancer 3:169487501 [Gene]
LOC128772259:melanoma risk locus-associated MPRA allelic enhancer 3:169512145 [Gene]
LOC128772260:melanoma risk locus-associated MPRA allelic enhancer 3:169524016 [Gene]
LOC128772261:melanoma risk locus-associated MPRA allelic enhancer 3:169526272 [Gene]
MIR4789:microRNA 4789 [Gene - HGNC]
MIR551B:microRNA 551b [Gene - HGNC]
MIR569:microRNA 569 [Gene - HGNC]
MIR6828:microRNA 6828 [Gene - HGNC]
MIR7977:microRNA 7977 [Gene - HGNC]
MRPL47:mitochondrial ribosomal protein L47 [Gene - OMIM - HGNC]
MFN1:mitofusin 1 [Gene - OMIM - HGNC]
MYNN:myoneurin [Gene - OMIM - HGNC]
NLGN1:neuroligin 1 [Gene - OMIM - HGNC]
NCEH1:neutral cholesterol ester hydrolase 1 [Gene - OMIM - HGNC]
PEX5L:peroxisomal biogenesis factor 5 like [Gene - OMIM - HGNC]
PIK3CA:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [Gene - OMIM - HGNC]
PLD1:phospholipase D1 [Gene - OMIM - HGNC]
PHC3:polyhomeotic homolog 3 [Gene - OMIM - HGNC]
KCNMB2:potassium calcium-activated channel subfamily M regulatory beta subunit 2 [Gene - OMIM - HGNC]
KCNMB3:potassium calcium-activated channel subfamily M regulatory beta subunit 3 [Gene - OMIM - HGNC]
PDCD10:programmed cell death 10 [Gene - OMIM - HGNC]
PRKCI:protein kinase C iota [Gene - OMIM - HGNC]
RPL22L1:ribosomal protein L22 like 1 [Gene - HGNC]
SERPINI1:serpin family I member 1 [Gene - OMIM - HGNC]
SERPINI2:serpin family I member 2 [Gene - OMIM - HGNC]
SLC2A2:solute carrier family 2 member 2 [Gene - OMIM - HGNC]
SLC7A14:solute carrier family 7 member 14 [Gene - OMIM - HGNC]
SPATA16:spermatogenesis associated 16 [Gene - OMIM - HGNC]
SAMD7:sterile alpha motif domain containing 7 [Gene - OMIM - HGNC]
TRV-AAC1-1:tRNA-Val (anticodon AAC) 1-1 [Gene - OMIM - HGNC]
LOC110806306:telomerase RNA component (TERC) promoter [Gene]
TERC:telomerase RNA component [Gene - OMIM - HGNC]
TMEM212:transmembrane protein 212 [Gene - HGNC]
USP13:ubiquitin specific peptidase 13 [Gene - OMIM - HGNC]
LOC102724479:uncharacterized LOC102724479 [Gene]
LOC105374194:uncharacterized LOC105374194 [Gene]
LOC105374235:uncharacterized LOC105374235 [Gene]
ZBBX:zinc finger B-box domain containing [Gene - HGNC]
ZMAT3:zinc finger matrin-type 3 [Gene - OMIM - HGNC]
ZNF639:zinc finger protein 639 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

3q26.1-26.33

Genomic location:

Preferred name:

GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3

HGVS:

NC_000003.12:g.(?_165158611)_(180130168_?)dup
NC_000003.10:g.(?_166359093)_(181330650_?)dup
NC_000003.11:g.(?_164876399)_(179847956_?)dup

Links:

dbVar: nssv1604344; dbVar: nsv916800

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000179898	ISCA site 4 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Sep 21, 2012)	not provided	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000179898

ISCA site 4

See additional submitters

no assertion criteria provided

Pathogenic
(Sep 21, 2012)

not provided

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]

PMID:: 20466091
PMCID:: PMC2869000

Details of each submission

From ISCA site 4, SCV000179898.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 28, 2023

ClinVar

Relating variation to medicine