ClinVar

GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3

Genes:

• BDH1:3-hydroxybutyrate dehydrogenase 1 [Gene - OMIM - HGNC]
• ATP13A3:ATPase 13A3 [Gene - OMIM - HGNC]
• ATP13A4:ATPase 13A4 [Gene - OMIM - HGNC]
• ATP13A5:ATPase 13A5 [Gene - OMIM - HGNC]
• ACAP2:ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 [Gene - OMIM - HGNC]
• BCL6:BCL6 transcription repressor [Gene - OMIM - HGNC]
• DNAJB11:DnaJ heat shock protein family (Hsp40) member B11 [Gene - OMIM - 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]
• IQCG:IQ motif containing G [Gene - OMIM - HGNC]
• LPP:LIM domain containing preferred translocation partner in lipoma [Gene - OMIM - HGNC]
• MAGEF1:MAGE family member F1 [Gene - OMIM - HGNC]
• MASP1:MBL associated serine protease 1 [Gene - OMIM - HGNC]
• MB21D2:Mab-21 domain containing 2 [Gene - HGNC]
• OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
• POLR2H:RNA polymerase II, I and III subunit H [Gene - OMIM - HGNC]
• ST6GAL1:ST6 beta-galactoside alpha-2,6-sialyltransferase 1 [Gene - OMIM - HGNC]
• SENP2:SUMO specific peptidase 2 [Gene - OMIM - HGNC]
• SENP5:SUMO specific peptidase 5 [Gene - OMIM - HGNC]
• TBCCD1:TBCC domain containing 1 [Gene - OMIM - HGNC]
• TNK2-AS1:TNK2 antisense RNA 1 [Gene - HGNC]
• UBXN7:UBX domain protein 7 [Gene - OMIM - HGNC]
• VPS8:VPS8 subunit of CORVET complex [Gene - OMIM - HGNC]
• WDR53:WD repeat domain 53 [Gene - OMIM - HGNC]
• ADIPOQ:adiponectin, C1Q and collagen domain containing [Gene - OMIM - HGNC]
• AHSG:alpha 2-HS glycoprotein [Gene - OMIM - HGNC]
• APOD:apolipoprotein D [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]
• CLDN16:claudin 16 [Gene - OMIM - HGNC]
• CLDN1:claudin 1 [Gene - OMIM - HGNC]
• CCDC50:coiled-coil domain containing 50 [Gene - OMIM - HGNC]
• CRYGS:crystallin gamma S [Gene - OMIM - HGNC]
• DGKG:diacylglycerol kinase gamma [Gene - OMIM - HGNC]
• DLG1:discs large MAGUK scaffold protein 1 [Gene - OMIM - HGNC]
• DYNLT2B:dynein light chain Tctex-type 2B [Gene - OMIM - HGNC]
• ECE2:endothelin converting enzyme 2 [Gene - OMIM - HGNC]
• EHHADH:enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase [Gene - OMIM - HGNC]
• EIF4G1:eukaryotic translation initiation factor 4 gamma 1 [Gene - OMIM - HGNC]
• EIF4A2:eukaryotic translation initiation factor 4A2 [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]
• 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]
• 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]
• 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 - OMIM - HGNC]
• LRCH3:leucine rich repeats and calponin homology domain containing 3 [Gene - HGNC]
• LIPH:lipase H [Gene - OMIM - HGNC]
• MELTF:melanotransferrin [Gene - OMIM - HGNC]
• MIR28:microRNA 28 [Gene - OMIM - HGNC]
• MIR570:microRNA 570 [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]
• NRROS:negative regulator of reactive oxygen species [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]
• PCYT1A:phosphate cytidylyltransferase 1A, choline [Gene - OMIM - HGNC]
• PIGX:phosphatidylinositol glycan anchor biosynthesis class X [Gene - OMIM - HGNC]
• PIGZ:phosphatidylinositol glycan anchor biosynthesis class Z [Gene - OMIM - HGNC]
• PLAAT1:phospholipase A and acyltransferase 1 [Gene - OMIM - HGNC]
• P3H2:prolyl 3-hydroxylase 2 [Gene - OMIM - HGNC]
• PSMD2:proteasome 26S subunit ubiquitin receptor, non-ATPase 2 [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]
• 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]
• SMCO1:single-pass membrane protein with coiled-coil domains 1 [Gene - HGNC]
• SNORA63:small nucleolar RNA, H/ACA box 63 [Gene - OMIM - HGNC]
• SNORA81:small nucleolar RNA, H/ACA box 81 [Gene - OMIM - HGNC]
• SLC51A:solute carrier family 51 subunit alpha [Gene - OMIM - HGNC]
• SST:somatostatin [Gene - OMIM - 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]
• 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]
• UTS2B:urotensin 2B [Gene - OMIM - HGNC]
• XXYLT1:xyloside xylosyltransferase 1 [Gene - OMIM - HGNC]
• ZDHHC19:zinc finger DHHC-type palmitoyltransferase 19 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

3q27.1-29

Genomic location:

Chr3: 184003967 - 197851986 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3

HGVS:

This HGVS expression did not pass validation