GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 AND See cases

Clinical significance:Pathogenic (Last evaluated: Dec 3, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000143694.3

Allele description [Variation Report for GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3]

GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3

Genes:
  • BDH1:3-hydroxybutyrate dehydrogenase 1 [Gene - OMIM - HGNC]
  • HTR3C:5-hydroxytryptamine receptor 3C [Gene - OMIM - HGNC]
  • HTR3D:5-hydroxytryptamine receptor 3D [Gene - OMIM - HGNC]
  • HTR3E:5-hydroxytryptamine receptor 3E [Gene - OMIM - HGNC]
  • ABCC5-AS1:ABCC5 antisense RNA 1 [Gene - HGNC]
  • ADIPOQ-AS1:ADIPOQ antisense RNA 1 [Gene - HGNC]
  • ALG3:ALG3 alpha-1,3- mannosyltransferase [Gene - OMIM - HGNC]
  • ABCC5:ATP binding cassette subfamily C member 5 [Gene - OMIM - HGNC]
  • ABCF3:ATP binding cassette subfamily F member 3 [Gene - HGNC]
  • ATP13A4-AS1:ATP13A4 antisense RNA 1 [Gene - HGNC]
  • ATP13A5-AS1:ATP13A5 antisense RNA 1 [Gene - HGNC]
  • ATP13A3:ATPase 13A3 [Gene - OMIM - HGNC]
  • ATP13A4:ATPase 13A4 [Gene - OMIM - HGNC]
  • ATP13A5:ATPase 13A5 [Gene - HGNC]
  • ATP11B:ATPase phospholipid transporting 11B (putative) [Gene - OMIM - HGNC]
  • ACAP2:ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 [Gene - OMIM - HGNC]
  • BCL6:BCL6 transcription repressor [Gene - OMIM - HGNC]
  • 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]
  • LOC115995534:CRISPRi-validated cis-regulatory element chr3.5107 [Gene]
  • LOC115995535:CRISPRi-validated cis-regulatory element chr3.5108 [Gene]
  • LOC115995536:CRISPRi-validated cis-regulatory element chr3.5443 [Gene]
  • LOC115995537:CRISPRi-validated cis-regulatory element chr3.5812 [Gene]
  • LOC115995538:CRISPRi-validated cis-regulatory element chr3.5817 [Gene]
  • DLG1-AS1:DLG1 antisense RNA 1 [Gene - HGNC]
  • LOC111162621:DeltaNp63 promoter of tumor protein p63 [Gene]
  • DNAJB11:DnaJ heat shock protein family (Hsp40) member B11 [Gene - OMIM - HGNC]
  • DNAJC19:DnaJ heat shock protein family (Hsp40) member C19 [Gene - OMIM - HGNC]
  • EEF1AKMT4:EEF1A lysine methyltransferase 4 [Gene - HGNC]
  • EEF1AKMT4-ECE2:EEF1AKMT4-ECE2 readthrough [Gene - HGNC]
  • EHHADH-AS1:EHHADH antisense RNA 1 [Gene - HGNC]
  • EPHB3:EPH receptor B3 [Gene - OMIM - HGNC]
  • ETV5:ETS variant transcription factor 5 [Gene - OMIM - HGNC]
  • FBXO45:F-box protein 45 [Gene - OMIM - HGNC]
  • FGF12-AS1:FGF12 antisense RNA 1 [Gene - HGNC]
  • FGF12-AS2:FGF12 antisense RNA 2 [Gene - HGNC]
  • FGF12-AS3:FGF12 antisense RNA 3 [Gene - HGNC]
  • FXR1:FMR1 autosomal homolog 1 [Gene - OMIM - HGNC]
  • 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]
  • HTR3E-AS1:HTR3E antisense RNA 1 [Gene - HGNC]
  • IGF2BP2-AS1:IGF2BP2 antisense RNA 1 [Gene - HGNC]
  • IQCG:IQ motif containing G [Gene - OMIM - HGNC]
  • KCNMB2-AS1:KCNMB2 antisense RNA 1 [Gene - HGNC]
  • KLHL6-AS1:KLHL6 antisense RNA 1 [Gene - HGNC]
  • LPP:LIM domain containing preferred translocation partner in lipoma [Gene - OMIM - HGNC]
  • LMLN-AS1:LMLN antisense RNA 1 [Gene - HGNC]
  • LPP-AS1:LPP antisense RNA 1 [Gene - HGNC]
  • LPP-AS2:LPP antisense RNA 2 [Gene - HGNC]
  • MAGEF1:MAGE family member F1 [Gene - OMIM - HGNC]
  • MAP6D1:MAP6 domain containing 1 [Gene - OMIM - HGNC]
  • LOC108281160:MASP1 intron CAGE-defined mid-level expression enhancer [Gene]
  • MCF2L2:MCF.2 cell line derived transforming sequence-like 2 [Gene - HGNC]
  • MECOM:MDS1 and EVI1 complex locus [Gene - OMIM - HGNC]
  • MECOM-AS1:MECOM antisense RNA 1 [Gene - HGNC]
  • MELTF-AS1:MELTF antisense RNA 1 [Gene - HGNC]
  • MIR570HG:MIR570 host gene [Gene - HGNC]
  • MB21D2:Mab-21 domain containing 2 [Gene - HGNC]
  • 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]
  • NCBP2AS2:NCBP2 antisense 2 (head to head) [Gene - HGNC]
  • NCBP2-AS1:NCBP2 antisense RNA 1 [Gene - HGNC]
  • NLGN1-AS1:NLGN1 antisense RNA 1 [Gene - HGNC]
  • LOC107133517:NUP98-IQCG recombination region [Gene]
  • OPA1-AS1:OPA1 antisense RNA 1 [Gene - HGNC]
  • OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
  • OSTN-AS1:OSTN antisense RNA 1 [Gene - HGNC]
  • P3H2-AS1:P3H2 antisense RNA 1 [Gene - HGNC]
  • PEX5L-AS2:PEX5L antisense RNA 2 [Gene - HGNC]
  • POLR2H:RNA polymerase II subunit H [Gene - OMIM - 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]
  • LOC108281177:SOX2 5' regulatory region [Gene]
  • SOX2-OT:SOX2 overlapping transcript [Gene - OMIM - HGNC]
  • SOX2-SRR2:SRR2 enhancer downstream of SOX2 [Gene]
  • SOX2:SRY-box transcription factor 2 [Gene - OMIM - HGNC]
  • ST6GAL1:ST6 beta-galactoside alpha-2,6-sialyltransferase 1 [Gene - OMIM - HGNC]
  • LOC111242783:ST6GAL1 promoter P1 [Gene]
  • LOC111242785:ST6GAL1 promoter P2 [Gene]
  • SENP2:SUMO specific peptidase 2 [Gene - OMIM - HGNC]
  • SENP5:SUMO specific peptidase 5 [Gene - OMIM - HGNC]
  • LOC112935922:Sharpr-MPRA regulatory region 10974 [Gene]
  • LOC112935907:Sharpr-MPRA regulatory region 12227 [Gene]
  • LOC112935913:Sharpr-MPRA regulatory region 12547 [Gene]
  • LOC112935904:Sharpr-MPRA regulatory region 14107 [Gene]
  • LOC112935919:Sharpr-MPRA regulatory region 14389 [Gene]
  • LOC112935909:Sharpr-MPRA regulatory region 14584 [Gene]
  • LOC114004376:Sharpr-MPRA regulatory region 15084 [Gene]
  • LOC114004377:Sharpr-MPRA regulatory region 196 [Gene]
  • LOC112935923:Sharpr-MPRA regulatory region 2136 [Gene]
  • LOC112935917:Sharpr-MPRA regulatory region 2895 [Gene]
  • LOC112935924:Sharpr-MPRA regulatory region 3422 [Gene]
  • LOC112935912:Sharpr-MPRA regulatory region 36 [Gene]
  • LOC112935910:Sharpr-MPRA regulatory region 3964 [Gene]
  • LOC112935908:Sharpr-MPRA regulatory region 4529 [Gene]
  • LOC112935920:Sharpr-MPRA regulatory region 4772 [Gene]
  • LOC112935906:Sharpr-MPRA regulatory region 5121 [Gene]
  • LOC112935911:Sharpr-MPRA regulatory region 5683 [Gene]
  • LOC114004375:Sharpr-MPRA regulatory region 6075 [Gene]
  • LOC112935926:Sharpr-MPRA regulatory region 6653 [Gene]
  • LOC112935921:Sharpr-MPRA regulatory region 6697 [Gene]
  • LOC112935905:Sharpr-MPRA regulatory region 7912 [Gene]
  • LOC112935925:Sharpr-MPRA regulatory region 8415 [Gene]
  • LOC112935914:Sharpr-MPRA regulatory region 9080 [Gene]
  • LOC112935918:Sharpr-MPRA regulatory region 910 [Gene]
  • LOC111828515:Sharpr-MPRA regulatory regions 4170 and 8020 [Gene]
  • LOC111162620:TAp63 promoter of tumor protein p63 [Gene]
  • TBCCD1:TBCC domain containing 1 [Gene - HGNC]
  • TBL1XR1:TBL1X receptor 1 [Gene - OMIM - HGNC]
  • TM4SF19-AS1:TM4SF19 antisense RNA 1 [Gene - HGNC]
  • TM4SF19-TCTEX1D2:TM4SF19-TCTEX1D2 readthrough (NMD candidate) [Gene - HGNC]
  • TMEM212-AS1:TMEM212 antisense RNA 1 [Gene - HGNC]
  • TMEM44-AS1:TMEM44 antisense RNA 1 [Gene - HGNC]
  • TNFSF10:TNF superfamily member 10 [Gene - OMIM - HGNC]
  • TNK2-AS1:TNK2 antisense RNA 1 [Gene - HGNC]
  • TPRG1-AS1:TPRG1 antisense RNA 1 [Gene - HGNC]
  • TPRG1-AS2:TPRG1 antisense RNA 2 [Gene - HGNC]
  • TNIK:TRAF2 and NCK interacting kinase [Gene - OMIM - HGNC]
  • TCTEX1D2:Tctex1 domain containing 2 [Gene - OMIM - HGNC]
  • UBXN7:UBX domain protein 7 [Gene - OMIM - HGNC]
  • UBXN7-AS1:UBXN7 antisense RNA 1 [Gene - HGNC]
  • B3GNT5:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 [Gene - OMIM - HGNC]
  • LOC110121064:VISTA enhancer hs1332 [Gene]
  • LOC110121069:VISTA enhancer hs1344 [Gene]
  • LOC110121102:VISTA enhancer hs1433 [Gene]
  • LOC110121110:VISTA enhancer hs1453 [Gene]
  • LOC110121137:VISTA enhancer hs1543 [Gene]
  • LOC110121144:VISTA enhancer hs1563 [Gene]
  • LOC110120606:VISTA enhancer hs192 [Gene]
  • LOC114827824:VISTA enhancer hs1976 [Gene]
  • LOC114827826:VISTA enhancer hs2120 [Gene]
  • LOC110120632:VISTA enhancer hs258 [Gene]
  • LOC110120734:VISTA enhancer hs655 [Gene]
  • VPS8:VPS8 subunit of CORVET complex [Gene - OMIM - HGNC]
  • WDR49:WD repeat domain 49 [Gene - HGNC]
  • WDR53:WD repeat domain 53 [Gene - OMIM - HGNC]
  • XXYLT1-AS1:XXYLT1 antisense RNA 1 [Gene - HGNC]
  • XXYLT1-AS2:XXYLT1 antisense RNA 2 [Gene - HGNC]
  • YEATS2:YEATS domain containing 2 [Gene - OMIM - HGNC]
  • YEATS2-AS1:YEATS2 antisense RNA 1 [Gene - HGNC]
  • ACTL6A:actin like 6A [Gene - OMIM - HGNC]
  • ACTRT3:actin related protein T3 [Gene - OMIM - HGNC]
  • AP2M1:adaptor related protein complex 2 subunit mu 1 [Gene - OMIM - HGNC]
  • LOC106660625:adiponectin enhancer region [Gene]
  • ADIPOQ:adiponectin, C1Q and collagen domain containing [Gene - OMIM - HGNC]
  • AHSG:alpha 2-HS glycoprotein [Gene - OMIM - HGNC]
  • APOD:apolipoprotein D [Gene - OMIM - HGNC]
  • CAMK2N2:calcium/calmodulin dependent protein kinase II inhibitor 2 [Gene - OMIM - HGNC]
  • CPN2:carboxypeptidase N subunit 2 [Gene - OMIM - HGNC]
  • CEP19:centrosomal protein 19 [Gene - OMIM - HGNC]
  • CLCN2:chloride voltage-gated channel 2 [Gene - OMIM - HGNC]
  • CHRD:chordin [Gene - OMIM - HGNC]
  • C3orf70:chromosome 3 open reading frame 70 [Gene - HGNC]
  • CLDN11:claudin 11 [Gene - OMIM - HGNC]
  • CLDN16:claudin 16 [Gene - OMIM - HGNC]
  • CLDN1:claudin 1 [Gene - OMIM - HGNC]
  • CCDC39:coiled-coil domain containing 39 [Gene - OMIM - HGNC]
  • CCDC50:coiled-coil domain containing 50 [Gene - OMIM - HGNC]
  • CRYGS:crystallin gamma S [Gene - OMIM - HGNC]
  • DCUN1D1:defective in cullin neddylation 1 domain containing 1 [Gene - OMIM - HGNC]
  • DGKG:diacylglycerol kinase gamma [Gene - OMIM - HGNC]
  • DLG1:discs large MAGUK scaffold protein 1 [Gene - OMIM - HGNC]
  • DVL3:dishevelled segment polarity protein 3 [Gene - OMIM - HGNC]
  • ECE2:endothelin converting enzyme 2 [Gene - OMIM - HGNC]
  • EHHADH:enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase [Gene - OMIM - HGNC]
  • ECT2:epithelial cell transforming 2 [Gene - OMIM - HGNC]
  • EIF2B5:eukaryotic translation initiation factor 2B subunit epsilon [Gene - OMIM - HGNC]
  • EIF4G1:eukaryotic translation initiation factor 4 gamma 1 [Gene - OMIM - HGNC]
  • EIF4A2:eukaryotic translation initiation factor 4A2 [Gene - OMIM - HGNC]
  • EIF5A2:eukaryotic translation initiation factor 5A2 [Gene - OMIM - HGNC]
  • FAM131A:family with sequence similarity 131 member A [Gene - HGNC]
  • FAM43A:family with sequence similarity 43 member A [Gene - HGNC]
  • FETUB:fetuin B [Gene - OMIM - HGNC]
  • FGF12:fibroblast growth factor 12 [Gene - OMIM - HGNC]
  • FNDC3B:fibronectin type III domain containing 3B [Gene - OMIM - HGNC]
  • FYTTD1:forty-two-three domain containing 1 [Gene - OMIM - HGNC]
  • GMNC:geminin coiled-coil domain containing [Gene - OMIM - HGNC]
  • GP5:glycoprotein V platelet [Gene - OMIM - HGNC]
  • GOLIM4:golgi integral membrane protein 4 [Gene - OMIM - HGNC]
  • GHSR:growth hormone secretagogue receptor [Gene - OMIM - HGNC]
  • LOC100131635:hCG1645011-like [Gene]
  • HES1:hes family bHLH transcription factor 1 [Gene - OMIM - HGNC]
  • HRG:histidine rich glycoprotein [Gene - OMIM - HGNC]
  • IGF2BP2:insulin like growth factor 2 mRNA binding protein 2 [Gene - OMIM - HGNC]
  • IL1RAP:interleukin 1 receptor accessory protein [Gene - OMIM - HGNC]
  • KLHL24:kelch like family member 24 [Gene - OMIM - HGNC]
  • KLHL6:kelch like family member 6 [Gene - OMIM - HGNC]
  • KNG1:kininogen 1 [Gene - OMIM - HGNC]
  • LSG1:large 60S subunit nuclear export GTPase 1 [Gene - OMIM - HGNC]
  • LMLN:leishmanolysin like peptidase [Gene - OMIM - HGNC]
  • LRRC15:leucine rich repeat containing 15 [Gene - HGNC]
  • LRRC31:leucine rich repeat containing 31 [Gene - HGNC]
  • LRRC34:leucine rich repeat containing 34 [Gene - HGNC]
  • LRRIQ4:leucine rich repeats and IQ motif containing 4 [Gene - HGNC]
  • LRCH3:leucine rich repeats and calponin homology domain containing 3 [Gene - HGNC]
  • LIPH:lipase H [Gene - OMIM - HGNC]
  • LINC01014:long intergenic non-protein coding RNA 1014 [Gene - HGNC]
  • LINC01063:long intergenic non-protein coding RNA 1063 [Gene - HGNC]
  • LINC01206:long intergenic non-protein coding RNA 1206 [Gene - HGNC]
  • LINC01208:long intergenic non-protein coding RNA 1208 [Gene - HGNC]
  • LINC01209:long intergenic non-protein coding RNA 1209 [Gene - HGNC]
  • LINC01327:long intergenic non-protein coding RNA 1327 [Gene - HGNC]
  • LINC01839:long intergenic non-protein coding RNA 1839 [Gene - HGNC]
  • LINC01840:long intergenic non-protein coding RNA 1840 [Gene - HGNC]
  • LINC01968:long intergenic non-protein coding RNA 1968 [Gene - HGNC]
  • LINC01972:long intergenic non-protein coding RNA 1972 [Gene - HGNC]
  • LINC01983:long intergenic non-protein coding RNA 1983 [Gene - HGNC]
  • LINC01991:long intergenic non-protein coding RNA 1991 [Gene - HGNC]
  • LINC01994:long intergenic non-protein coding RNA 1994 [Gene - HGNC]
  • LINC01995:long intergenic non-protein coding RNA 1995 [Gene - HGNC]
  • LINC01997:long intergenic non-protein coding RNA 1997 [Gene - HGNC]
  • LINC02012:long intergenic non-protein coding RNA 2012 [Gene - HGNC]
  • LINC02013:long intergenic non-protein coding RNA 2013 [Gene - HGNC]
  • LINC02015:long intergenic non-protein coding RNA 2015 [Gene - HGNC]
  • LINC02020:long intergenic non-protein coding RNA 2020 [Gene - HGNC]
  • LINC02026:long intergenic non-protein coding RNA 2026 [Gene - HGNC]
  • LINC02028:long intergenic non-protein coding RNA 2028 [Gene - HGNC]
  • LINC02031:long intergenic non-protein coding RNA 2031 [Gene - HGNC]
  • LINC02036:long intergenic non-protein coding RNA 2036 [Gene - HGNC]
  • LINC02037:long intergenic non-protein coding RNA 2037 [Gene - HGNC]
  • LINC02038:long intergenic non-protein coding RNA 2038 [Gene - HGNC]
  • LINC02041:long intergenic non-protein coding RNA 2041 [Gene - HGNC]
  • LINC02043:long intergenic non-protein coding RNA 2043 [Gene - HGNC]
  • LINC02048:long intergenic non-protein coding RNA 2048 [Gene - HGNC]
  • LINC02052:long intergenic non-protein coding RNA 2052 [Gene - HGNC]
  • LINC02053:long intergenic non-protein coding RNA 2053 [Gene - HGNC]
  • LINC02054:long intergenic non-protein coding RNA 2054 [Gene - HGNC]
  • LINC02068:long intergenic non-protein coding RNA 2068 [Gene - HGNC]
  • LINC02069:long intergenic non-protein coding RNA 2069 [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]
  • LINC00884:long intergenic non-protein coding RNA 884 [Gene - HGNC]
  • LINC00885:long intergenic non-protein coding RNA 885 [Gene - HGNC]
  • LINC00887:long intergenic non-protein coding RNA 887 [Gene - HGNC]
  • LINC00888:long intergenic non-protein coding RNA 888 [Gene - HGNC]
  • LAMP3:lysosomal associated membrane protein 3 [Gene - OMIM - HGNC]
  • MASP1:mannan binding lectin serine peptidase 1 [Gene - OMIM - HGNC]
  • MELTF:melanotransferrin [Gene - OMIM - HGNC]
  • MCCC1:methylcrotonoyl-CoA carboxylase 1 [Gene - OMIM - HGNC]
  • MIR1224:microRNA 1224 [Gene - OMIM - HGNC]
  • MIR1248:microRNA 1248 [Gene - HGNC]
  • MIR28:microRNA 28 [Gene - OMIM - HGNC]
  • MIR3137:microRNA 3137 [Gene - HGNC]
  • MIR4448:microRNA 4448 [Gene - HGNC]
  • MIR4789:microRNA 4789 [Gene - HGNC]
  • MIR4797:microRNA 4797 [Gene - HGNC]
  • MIR548AQ:microRNA 548aq [Gene - HGNC]
  • MIR551B:microRNA 551b [Gene - HGNC]
  • MIR5588:microRNA 5588 [Gene - HGNC]
  • MIR569:microRNA 569 [Gene - HGNC]
  • MIR570:microRNA 570 [Gene - OMIM - HGNC]
  • MIR6828:microRNA 6828 [Gene - HGNC]
  • MIR6829:microRNA 6829 [Gene - HGNC]
  • MIR7977:microRNA 7977 [Gene - HGNC]
  • MIR922:microRNA 922 [Gene - HGNC]
  • MIR944:microRNA 944 [Gene - HGNC]
  • MRPL47:mitochondrial ribosomal protein L47 [Gene - OMIM - HGNC]
  • MFN1:mitofusin 1 [Gene - OMIM - HGNC]
  • MAP3K13:mitogen-activated protein kinase kinase kinase 13 [Gene - OMIM - HGNC]
  • MUC20:mucin 20, cell surface associated [Gene - OMIM - HGNC]
  • MUC4:mucin 4, cell surface associated [Gene - OMIM - HGNC]
  • MYNN:myoneurin [Gene - OMIM - HGNC]
  • NRROS:negative regulator of reactive oxygen species [Gene - OMIM - HGNC]
  • NLGN1:neuroligin 1 [Gene - OMIM - HGNC]
  • NCEH1:neutral cholesterol ester hydrolase 1 [Gene - OMIM - HGNC]
  • NCBP2:nuclear cap binding protein subunit 2 [Gene - OMIM - HGNC]
  • OSTN:osteocrin [Gene - OMIM - HGNC]
  • PAK2:p21 (RAC1) activated kinase 2 [Gene - OMIM - HGNC]
  • PEX5L:peroxisomal biogenesis factor 5 like [Gene - OMIM - HGNC]
  • PCYT1A:phosphate cytidylyltransferase 1, choline, alpha [Gene - OMIM - HGNC]
  • PIGX:phosphatidylinositol glycan anchor biosynthesis class X [Gene - OMIM - HGNC]
  • PIGZ:phosphatidylinositol glycan anchor biosynthesis class Z [Gene - OMIM - HGNC]
  • PIK3CA:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [Gene - OMIM - HGNC]
  • PLAAT1:phospholipase A and acyltransferase 1 [Gene - OMIM - HGNC]
  • PLD1:phospholipase D1 [Gene - OMIM - HGNC]
  • PHC3:polyhomeotic homolog 3 [Gene - 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]
  • PARL:presenilin associated rhomboid like [Gene - OMIM - HGNC]
  • PDCD10:programmed cell death 10 [Gene - OMIM - HGNC]
  • P3H2:prolyl 3-hydroxylase 2 [Gene - OMIM - HGNC]
  • PSMD2:proteasome 26S subunit, non-ATPase 2 [Gene - OMIM - HGNC]
  • PRKCI:protein kinase C iota [Gene - OMIM - HGNC]
  • PPP1R2:protein phosphatase 1 regulatory inhibitor subunit 2 [Gene - OMIM - HGNC]
  • PYDC2:pyrin domain containing 2 [Gene - OMIM - HGNC]
  • RTP1:receptor transporter protein 1 [Gene - OMIM - HGNC]
  • RTP2:receptor transporter protein 2 [Gene - OMIM - HGNC]
  • RTP4:receptor transporter protein 4 [Gene - OMIM - HGNC]
  • RFC4:replication factor C subunit 4 [Gene - OMIM - HGNC]
  • RPL22L1:ribosomal protein L22 like 1 [Gene - HGNC]
  • RPL35A:ribosomal protein L35a [Gene - OMIM - HGNC]
  • RPL39L:ribosomal protein L39 like [Gene - OMIM - HGNC]
  • RNF168:ring finger protein 168 [Gene - OMIM - HGNC]
  • RUBCN:rubicon autophagy regulator [Gene - OMIM - HGNC]
  • SERPINI1:serpin family I member 1 [Gene - OMIM - HGNC]
  • SERPINI2:serpin family I member 2 [Gene - OMIM - HGNC]
  • SMCO1:single-pass membrane protein with coiled-coil domains 1 [Gene - HGNC]
  • SNAR-I:small NF90 (ILF3) associated RNA I [Gene - HGNC]
  • SNORD2:small nucleolar RNA, C/D box 2 [Gene - HGNC]
  • SNORD66:small nucleolar RNA, C/D box 66 [Gene - HGNC]
  • SNORA4:small nucleolar RNA, H/ACA box 4 [Gene - HGNC]
  • SNORA63:small nucleolar RNA, H/ACA box 63 [Gene - OMIM - HGNC]
  • SNORA63B:small nucleolar RNA, H/ACA box 63B [Gene - HGNC]
  • SNORA63D:small nucleolar RNA, H/ACA box 63D [Gene - HGNC]
  • SNORA63E:small nucleolar RNA, H/ACA box 63E [Gene - HGNC]
  • SNORA81:small nucleolar RNA, H/ACA box 81 [Gene - OMIM - HGNC]
  • SLC2A2:solute carrier family 2 member 2 [Gene - OMIM - HGNC]
  • SLC51A:solute carrier family 51 subunit alpha [Gene - OMIM - HGNC]
  • SLC7A14:solute carrier family 7 member 14 [Gene - OMIM - HGNC]
  • SST:somatostatin [Gene - OMIM - HGNC]
  • SPATA16:spermatogenesis associated 16 [Gene - OMIM - HGNC]
  • SAMD7:sterile alpha motif domain containing 7 [Gene - 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]
  • TTC14:tetratricopeptide repeat domain 14 [Gene - HGNC]
  • THPO:thrombopoietin [Gene - OMIM - HGNC]
  • TFRC:transferrin receptor [Gene - OMIM - HGNC]
  • TRA2B:transformer 2 beta homolog [Gene - OMIM - HGNC]
  • TM4SF19:transmembrane 4 L six family member 19 [Gene - HGNC]
  • TMEM207:transmembrane protein 207 [Gene - OMIM - HGNC]
  • TMEM212:transmembrane protein 212 [Gene - HGNC]
  • TMEM41A:transmembrane protein 41A [Gene - HGNC]
  • TMEM44:transmembrane protein 44 [Gene - HGNC]
  • TPRG1:tumor protein p63 regulated 1 [Gene - HGNC]
  • TP63:tumor protein p63 [Gene - OMIM - HGNC]
  • TNK2:tyrosine kinase non receptor 2 [Gene - OMIM - HGNC]
  • USP13:ubiquitin specific peptidase 13 [Gene - OMIM - HGNC]
  • LOC101928739:uncharacterized LOC101928739 [Gene]
  • LOC101928882:uncharacterized LOC101928882 [Gene]
  • LOC101929106:uncharacterized LOC101929106 [Gene]
  • LOC101929130:uncharacterized LOC101929130 [Gene]
  • LOC102724604:uncharacterized LOC102724604 [Gene]
  • LOC105374194:uncharacterized LOC105374194 [Gene]
  • LOC105374297:uncharacterized LOC105374297 [Gene]
  • LOC107986163:uncharacterized LOC107986163 [Gene]
  • FLJ42393:uncharacterized LOC401105 [Gene]
  • LINCR-0002:uncharacterized LincR-0002 [Gene]
  • MGC2889:uncharacterized protein MGC2889 [Gene]
  • UTS2B:urotensin 2B [Gene - OMIM - HGNC]
  • VWA5B2:von Willebrand factor A domain containing 5B2 [Gene - HGNC]
  • XXYLT1:xyloside xylosyltransferase 1 [Gene - OMIM - HGNC]
  • ZBBX:zinc finger B-box domain containing [Gene - HGNC]
  • ZDHHC19:zinc finger DHHC-type palmitoyltransferase 19 [Gene - OMIM - HGNC]
  • ZMAT3:zinc finger matrin-type 3 [Gene - OMIM - HGNC]
  • ZNF639:zinc finger protein 639 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3q26.1-29
Genomic location:
Preferred name:
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3
HGVS:
  • NC_000003.12:g.(?_166137209)_(198125115_?)dup
  • NC_000003.11:g.(?_165854997)_(197851986_?)dup
Links:
dbVar: nssv3397451; dbVar: nsv996053
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000183482ISCA site 1

See additional submitters

no assertion criteria providedPathogenic
(Dec 3, 2013)
not providedclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000183482

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000183482

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000183482.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Jan 11, 2020

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