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GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 28, 2020
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:
RCV001263052.1

Allele description [Variation Report for GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3]

GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3

Genes:
  • HIBCH:3-hydroxyisobutyryl-CoA hydrolase [Gene - OMIM - HGNC]
  • ATIC:5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase [Gene - OMIM - HGNC]
  • HTR2B:5-hydroxytryptamine receptor 2B [Gene - OMIM - HGNC]
  • ADAM23:ADAM metallopeptidase domain 23 [Gene - OMIM - HGNC]
  • ARL4C:ADP ribosylation factor like GTPase 4C [Gene - OMIM - HGNC]
  • ABCA12:ATP binding cassette subfamily A member 12 [Gene - OMIM - HGNC]
  • ABCB6:ATP binding cassette subfamily B member 6 (Langereis blood group) [Gene - OMIM - HGNC]
  • AGFG1:ArfGAP with FG repeats 1 [Gene - OMIM - HGNC]
  • AGAP1:ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 [Gene - OMIM - HGNC]
  • BOK:BCL2 family apoptosis regulator BOK [Gene - OMIM - HGNC]
  • BCS1L:BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Gene - OMIM - HGNC]
  • BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]
  • CCL20:C-C motif chemokine ligand 20 [Gene - OMIM - HGNC]
  • CXCR1:C-X-C motif chemokine receptor 1 [Gene - OMIM - HGNC]
  • CXCR2:C-X-C motif chemokine receptor 2 [Gene - OMIM - HGNC]
  • C2CD6:C2 calcium dependent domain containing 6 [Gene - OMIM - HGNC]
  • CFLAR:CASP8 and FADD like apoptosis regulator [Gene - OMIM - HGNC]
  • CCDC140:CCDC140 long non-coding RNA [Gene - HGNC]
  • CNOT9:CCR4-NOT transcription complex subunit 9 [Gene - OMIM - HGNC]
  • CD28:CD28 molecule [Gene - OMIM - HGNC]
  • CLK1:CDC like kinase 1 [Gene - OMIM - HGNC]
  • COPS7B:COP9 signalosome subunit 7B [Gene - OMIM - HGNC]
  • COPS8:COP9 signalosome subunit 8 [Gene - OMIM - HGNC]
  • COPS9:COP9 signalosome subunit 9 [Gene - OMIM - HGNC]
  • CTDSP1:CTD small phosphatase 1 [Gene - OMIM - HGNC]
  • CWC22:CWC22 spliceosome associated protein homolog [Gene - OMIM - HGNC]
  • D2HGDH:D-2-hydroxyglutarate dehydrogenase [Gene - OMIM - HGNC]
  • DIS3L2:DIS3 like 3'-5' exoribonuclease 2 [Gene - OMIM - HGNC]
  • DNAJB2:DnaJ heat shock protein family (Hsp40) member B2 [Gene - OMIM - HGNC]
  • DNAJB3:DnaJ heat shock protein family (Hsp40) member B3 [Gene - HGNC]
  • DNAJC10:DnaJ heat shock protein family (Hsp40) member C10 [Gene - OMIM - HGNC]
  • EFHD1:EF-hand domain family member D1 [Gene - OMIM - HGNC]
  • EPHA4:EPH receptor A4 [Gene - OMIM - HGNC]
  • FBXO36:F-box protein 36 [Gene - OMIM - HGNC]
  • FASTKD2:FAST kinase domains 2 [Gene - OMIM - HGNC]
  • FARP2:FERM, ARH/RhoGEF and pleckstrin domain protein 2 [Gene - OMIM - HGNC]
  • FEV:FEV transcription factor, ETS family member [Gene - OMIM - HGNC]
  • FKBP7:FKBP prolyl isomerase 7 [Gene - OMIM - HGNC]
  • GPBAR1:G protein-coupled bile acid receptor 1 [Gene - OMIM - HGNC]
  • GPR35:G protein-coupled receptor 35 [Gene - OMIM - HGNC]
  • GPR55:G protein-coupled receptor 55 [Gene - OMIM - HGNC]
  • GMPPA:GDP-mannose pyrophosphorylase A [Gene - OMIM - HGNC]
  • GIGYF2:GRB10 interacting GYF protein 2 [Gene - OMIM - HGNC]
  • GULP1:GULP PTB domain containing engulfment adaptor 1 [Gene - OMIM - HGNC]
  • HECW2:HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • HJURP:Holliday junction recognition protein [Gene - OMIM - HGNC]
  • IKZF2:IKAROS family zinc finger 2 [Gene - OMIM - HGNC]
  • ILKAP:ILK associated serine/threonine phosphatase [Gene - OMIM - HGNC]
  • INO80D:INO80 complex subunit D [Gene - OMIM - HGNC]
  • IQCA1:IQ motif containing with AAA domain 1 [Gene - HGNC]
  • ITPRID2:ITPR interacting domain containing 2 [Gene - OMIM - HGNC]
  • IHH:Indian hedgehog signaling molecule [Gene - OMIM - HGNC]
  • KANSL1L:KAT8 regulatory NSL complex subunit 1 like [Gene - OMIM - HGNC]
  • KLF7:KLF transcription factor 7 [Gene - OMIM - HGNC]
  • LRRFIP1:LRR binding FLII interacting protein 1 [Gene - OMIM - HGNC]
  • LANCL1:LanC like glutathione S-transferase 1 [Gene - OMIM - HGNC]
  • MPP4:MAGUK p55 scaffold protein 4 [Gene - OMIM - HGNC]
  • MOB4:MOB family member 4, phocein [Gene - OMIM - HGNC]
  • NDUFS1:NADH:ubiquinone oxidoreductase core subunit S1 [Gene - OMIM - HGNC]
  • NDUFA10:NADH:ubiquinone oxidoreductase subunit A10 [Gene - OMIM - HGNC]
  • NDUFB3:NADH:ubiquinone oxidoreductase subunit B3 [Gene - OMIM - HGNC]
  • NCKAP1:NCK associated protein 1 [Gene - OMIM - HGNC]
  • NAB1:NGFI-A binding protein 1 [Gene - OMIM - HGNC]
  • NIF3L1:NGG1 interacting factor 3 like 1 [Gene - OMIM - HGNC]
  • NOP58:NOP58 ribonucleoprotein [Gene - OMIM - HGNC]
  • OSGEPL1:O-sialoglycoprotein endopeptidase like 1 [Gene - OMIM - HGNC]
  • ORMDL1:ORMDL sphingolipid biosynthesis regulator 1 [Gene - OMIM - HGNC]
  • PASK:PAS domain containing serine/threonine kinase [Gene - OMIM - HGNC]
  • PCGEM1:PCGEM1 prostate-specific transcript [Gene - OMIM - HGNC]
  • PMS1:PMS1 homolog 1, mismatch repair system component [Gene - OMIM - HGNC]
  • PNKD:PNKD metallo-beta-lactamase domain containing [Gene - OMIM - HGNC]
  • RAB17:RAB17, member RAS oncogene family [Gene - OMIM - HGNC]
  • RBM44:RNA binding motif protein 44 [Gene - HGNC]
  • RBM45:RNA binding motif protein 45 [Gene - OMIM - HGNC]
  • RUFY4:RUN and FYVE domain containing 4 [Gene - HGNC]
  • RAPH1:Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 [Gene - OMIM - HGNC]
  • SAG:S-antigen visual arrestin [Gene - OMIM - HGNC]
  • SATB2:SATB homeobox 2 [Gene - OMIM - HGNC]
  • SESTD1:SEC14 and spectrin domain containing 1 [Gene - HGNC]
  • SH3BP4:SH3 domain binding protein 4 [Gene - OMIM - HGNC]
  • SP100:SP100 nuclear antigen [Gene - OMIM - HGNC]
  • SP110:SP110 nuclear body protein [Gene - OMIM - HGNC]
  • SP140L:SP140 nuclear body protein like [Gene - OMIM - HGNC]
  • SP140:SP140 nuclear body protein [Gene - OMIM - HGNC]
  • SPHKAP:SPHK1 interactor, AKAP domain containing [Gene - OMIM - HGNC]
  • STRADB:STE20 related adaptor beta [Gene - OMIM - HGNC]
  • SMARCAL1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 [Gene - OMIM - HGNC]
  • THAP4:THAP domain containing 4 [Gene - OMIM - HGNC]
  • TRAF3IP1:TRAF3 interacting protein 1 [Gene - OMIM - HGNC]
  • UGT1A10:UDP glucuronosyltransferase family 1 member A10 [Gene - OMIM - HGNC]
  • UGT1A1:UDP glucuronosyltransferase family 1 member A1 [Gene - OMIM - HGNC]
  • UGT1A3:UDP glucuronosyltransferase family 1 member A3 [Gene - OMIM - HGNC]
  • UGT1A4:UDP glucuronosyltransferase family 1 member A4 [Gene - OMIM - HGNC]
  • UGT1A5:UDP glucuronosyltransferase family 1 member A5 [Gene - OMIM - HGNC]
  • UGT1A6:UDP glucuronosyltransferase family 1 member A6 [Gene - OMIM - HGNC]
  • UGT1A7:UDP glucuronosyltransferase family 1 member A7 [Gene - OMIM - HGNC]
  • UGT1A8:UDP glucuronosyltransferase family 1 member A8 [Gene - OMIM - HGNC]
  • UGT1A9:UDP glucuronosyltransferase family 1 member A9 [Gene - OMIM - HGNC]
  • B3GNT7:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 [Gene - OMIM - HGNC]
  • WDFY1:WD repeat and FYVE domain containing 1 [Gene - OMIM - HGNC]
  • WDR12:WD repeat domain 12 [Gene - OMIM - HGNC]
  • WDR75:WD repeat domain 75 [Gene - OMIM - HGNC]
  • WNT10A:Wnt family member 10A [Gene - OMIM - HGNC]
  • WNT6:Wnt family member 6 [Gene - OMIM - HGNC]
  • XRCC5:X-ray repair cross complementing 5 [Gene - OMIM - HGNC]
  • ABI2:abl interactor 2 [Gene - OMIM - HGNC]
  • ASIC4:acid sensing ion channel subunit family member 4 [Gene - OMIM - HGNC]
  • ARPC2:actin related protein 2/3 complex subunit 2 [Gene - OMIM - HGNC]
  • ACADL:acyl-CoA dehydrogenase long chain [Gene - OMIM - HGNC]
  • ACSL3:acyl-CoA synthetase long chain family member 3 [Gene - OMIM - HGNC]
  • AP1S3:adaptor related protein complex 1 subunit sigma 3 [Gene - OMIM - HGNC]
  • AGXT:alanine--glyoxylate aminotransferase [Gene - OMIM - HGNC]
  • AOX1:aldehyde oxidase 1 [Gene - OMIM - HGNC]
  • ALPG:alkaline phosphatase, germ cell [Gene - OMIM - HGNC]
  • ALPI:alkaline phosphatase, intestinal [Gene - OMIM - HGNC]
  • ALPP:alkaline phosphatase, placental [Gene - OMIM - HGNC]
  • AGPS:alkylglycerone phosphate synthase [Gene - OMIM - HGNC]
  • ALS2:alsin Rho guanine nucleotide exchange factor ALS2 [Gene - OMIM - HGNC]
  • AAMP:angio associated migratory cell protein [Gene - OMIM - HGNC]
  • ANKAR:ankyrin and armadillo repeat containing [Gene - OMIM - HGNC]
  • ANKMY1:ankyrin repeat and MYND domain containing 1 [Gene - HGNC]
  • ASB18:ankyrin repeat and SOCS box containing 18 [Gene - HGNC]
  • ASB1:ankyrin repeat and SOCS box containing 1 [Gene - OMIM - HGNC]
  • ANKZF1:ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 [Gene - OMIM - HGNC]
  • ANKRD44:ankyrin repeat domain 44 [Gene - HGNC]
  • ANO7:anoctamin 7 [Gene - OMIM - HGNC]
  • AQP12A:aquaporin 12A [Gene - OMIM - HGNC]
  • AQP12B:aquaporin 12B [Gene - HGNC]
  • RNPEPL1:arginyl aminopeptidase like 1 [Gene - OMIM - HGNC]
  • ARMC9:armadillo repeat containing 9 [Gene - OMIM - HGNC]
  • ASNSD1:asparagine synthetase domain containing 1 [Gene - OMIM - HGNC]
  • DNPEP:aspartyl aminopeptidase [Gene - OMIM - HGNC]
  • ACKR3:atypical chemokine receptor 3 [Gene - OMIM - HGNC]
  • ATG16L1:autophagy related 16 like 1 [Gene - OMIM - HGNC]
  • ATG4B:autophagy related 4B cysteine peptidase [Gene - OMIM - HGNC]
  • ATG9A:autophagy related 9A [Gene - OMIM - HGNC]
  • BZW1:basic leucine zipper and W2 domains 1 [Gene - OMIM - HGNC]
  • BMPR2:bone morphogenetic protein receptor type 2 [Gene - OMIM - HGNC]
  • BOLL:boule homolog, RNA binding protein [Gene - OMIM - HGNC]
  • CREB1:cAMP responsive element binding protein 1 [Gene - OMIM - HGNC]
  • CALCRL:calcitonin receptor like receptor [Gene - OMIM - HGNC]
  • CAB39:calcium binding protein 39 [Gene - OMIM - HGNC]
  • CARF:calcium responsive transcription factor [Gene - OMIM - HGNC]
  • CAPN10:calpain 10 [Gene - OMIM - HGNC]
  • CPS1:carbamoyl-phosphate synthase 1 [Gene - OMIM - HGNC]
  • CPO:carboxypeptidase O [Gene - OMIM - HGNC]
  • CASP10:caspase 10 [Gene - OMIM - HGNC]
  • CASP8:caspase 8 [Gene - OMIM - HGNC]
  • CAVIN2:caveolae associated protein 2 [Gene - OMIM - HGNC]
  • CERKL:ceramide kinase like [Gene - OMIM - HGNC]
  • CMKLR2:chemerin chemokine-like receptor 2 [Gene - OMIM - HGNC]
  • CHRND:cholinergic receptor nicotinic delta subunit [Gene - OMIM - HGNC]
  • CHRNG:cholinergic receptor nicotinic gamma subunit [Gene - OMIM - HGNC]
  • CHPF:chondroitin polymerizing factor [Gene - OMIM - HGNC]
  • C2orf66:chromosome 2 open reading frame 66 [Gene - HGNC]
  • C2orf69:chromosome 2 open reading frame 69 [Gene - OMIM - HGNC]
  • C2orf72:chromosome 2 open reading frame 72 [Gene - HGNC]
  • C2orf80:chromosome 2 open reading frame 80 [Gene - OMIM - HGNC]
  • C2orf83:chromosome 2 open reading frame 83 [Gene - HGNC]
  • C2orf88:chromosome 2 open reading frame 88 [Gene - OMIM - HGNC]
  • CFAP65:cilia and flagella associated protein 65 [Gene - OMIM - HGNC]
  • CATIP:ciliogenesis associated TTC17 interacting protein [Gene - OMIM - HGNC]
  • COQ10B:coenzyme Q10B [Gene - HGNC]
  • CCDC141:coiled-coil domain containing 141 [Gene - OMIM - HGNC]
  • CCDC150:coiled-coil domain containing 150 [Gene - HGNC]
  • COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]
  • COL4A3:collagen type IV alpha 3 chain [Gene - OMIM - HGNC]
  • COL4A4:collagen type IV alpha 4 chain [Gene - OMIM - HGNC]
  • COL5A2:collagen type V alpha 2 chain [Gene - OMIM - HGNC]
  • COL6A3:collagen type VI alpha 3 chain [Gene - OMIM - HGNC]
  • CRYBA2:crystallin beta A2 [Gene - OMIM - HGNC]
  • CRYGA:crystallin gamma A [Gene - OMIM - HGNC]
  • CRYGB:crystallin gamma B [Gene - OMIM - HGNC]
  • CRYGC:crystallin gamma C [Gene - OMIM - HGNC]
  • CRYGD:crystallin gamma D [Gene - OMIM - HGNC]
  • CUL3:cullin 3 [Gene - OMIM - HGNC]
  • CNPPD1:cyclin Pas1/PHO80 domain containing 1 [Gene - HGNC]
  • CCNYL1:cyclin Y like 1 [Gene - HGNC]
  • CDK15:cyclin dependent kinase 15 [Gene - OMIM - HGNC]
  • CDK5R2:cyclin dependent kinase 5 regulatory subunit 2 [Gene - OMIM - HGNC]
  • CYP20A1:cytochrome P450 family 20 subfamily A member 1 [Gene - HGNC]
  • CYP27A1:cytochrome P450 family 27 subfamily A member 1 [Gene - OMIM - HGNC]
  • CTLA4:cytotoxic T-lymphocyte associated protein 4 [Gene - OMIM - HGNC]
  • DOCK10:dedicator of cytokinesis 10 [Gene - OMIM - HGNC]
  • DNER:delta/notch like EGF repeat containing [Gene - OMIM - HGNC]
  • DTYMK:deoxythymidylate kinase [Gene - OMIM - HGNC]
  • DES:desmin [Gene - OMIM - HGNC]
  • DGKD:diacylglycerol kinase delta [Gene - OMIM - HGNC]
  • DIRC1:disrupted in renal carcinoma 1 [Gene - OMIM - HGNC]
  • DIRC3:disrupted in renal carcinoma 3 [Gene - OMIM - HGNC]
  • DUSP19:dual specificity phosphatase 19 [Gene - OMIM - HGNC]
  • DUSP28:dual specificity phosphatase 28 [Gene - HGNC]
  • DAW1:dynein assembly factor with WD repeats 1 [Gene - OMIM - HGNC]
  • DNAH7:dynein axonemal heavy chain 7 [Gene - OMIM - HGNC]
  • DYTN:dystrotelin [Gene - OMIM - HGNC]
  • ECEL1:endothelin converting enzyme like 1 [Gene - OMIM - HGNC]
  • ERBB4:erb-b2 receptor tyrosine kinase 4 [Gene - OMIM - HGNC]
  • ERFE:erythroferrone [Gene - OMIM - HGNC]
  • ESPNL:espin like [Gene - OMIM - HGNC]
  • EEF1B2:eukaryotic translation elongation factor 1 beta 2 [Gene - OMIM - HGNC]
  • EIF4E2:eukaryotic translation initiation factor 4E family member 2 [Gene - OMIM - HGNC]
  • FAM117B:family with sequence similarity 117 member B [Gene - HGNC]
  • FAM124B:family with sequence similarity 124 member B [Gene - OMIM - HGNC]
  • FAM171B:family with sequence similarity 171 member B [Gene - OMIM - HGNC]
  • FN1:fibronectin 1 [Gene - OMIM - HGNC]
  • FSIP2:fibrous sheath interacting protein 2 [Gene - OMIM - HGNC]
  • FLACC1:flagellum associated containing coiled-coil domains 1 [Gene - OMIM - HGNC]
  • FTCDNL1:formiminotransferase cyclodeaminase N-terminal like [Gene - OMIM - HGNC]
  • FZD5:frizzled class receptor 5 [Gene - OMIM - HGNC]
  • FZD7:frizzled class receptor 7 [Gene - OMIM - HGNC]
  • FRZB:frizzled related protein [Gene - OMIM - HGNC]
  • GAL3ST2:galactose-3-O-sulfotransferase 2 [Gene - OMIM - HGNC]
  • GLB1L:galactosidase beta 1 like [Gene - HGNC]
  • GBX2:gastrulation brain homeobox 2 [Gene - OMIM - HGNC]
  • GTF3C3:general transcription factor IIIC subunit 3 [Gene - OMIM - HGNC]
  • GLS:glutaminase [Gene - OMIM - HGNC]
  • GPC1:glypican 1 [Gene - OMIM - HGNC]
  • HSPD1:heat shock protein family D (Hsp60) member 1 [Gene - OMIM - HGNC]
  • HSPE1:heat shock protein family E (Hsp10) member 1 [Gene - OMIM - HGNC]
  • HES6:hes family bHLH transcription factor 6 [Gene - OMIM - HGNC]
  • HDLBP:high density lipoprotein binding protein [Gene - OMIM - HGNC]
  • HDAC4:histone deacetylase 4 [Gene - OMIM - HGNC]
  • HYCC2:hyccin PI4KA lipid kinase complex subunit 2 [Gene - HGNC]
  • ICOS:inducible T cell costimulator [Gene - OMIM - HGNC]
  • INHA:inhibin subunit alpha [Gene - OMIM - HGNC]
  • ING5:inhibitor of growth family member 5 [Gene - OMIM - HGNC]
  • INPP1:inositol polyphosphate-1-phosphatase [Gene - OMIM - HGNC]
  • IGFBP2:insulin like growth factor binding protein 2 [Gene - OMIM - HGNC]
  • IGFBP5:insulin like growth factor binding protein 5 [Gene - OMIM - HGNC]
  • IRS1:insulin receptor substrate 1 [Gene - OMIM - HGNC]
  • ITM2C:integral membrane protein 2C [Gene - OMIM - HGNC]
  • ITGA4:integrin subunit alpha 4 [Gene - OMIM - HGNC]
  • ITGAV:integrin subunit alpha V [Gene - OMIM - HGNC]
  • IFT70A:intraflagellar transport 70A [Gene - HGNC]
  • IFT70B:intraflagellar transport 70B [Gene - HGNC]
  • ICA1L:islet cell autoantigen 1 like [Gene - HGNC]
  • IDH1:isocitrate dehydrogenase (NADP(+)) 1 [Gene - OMIM - HGNC]
  • KLHL30:kelch like family member 30 [Gene - HGNC]
  • KIF1A:kinesin family member 1A [Gene - OMIM - HGNC]
  • MAB21L4:mab-21 like 4 [Gene - HGNC]
  • MROH2A:maestro heat like repeat family member 2A [Gene - HGNC]
  • MFSD6:major facilitator superfamily domain containing 6 [Gene - OMIM - HGNC]
  • MDH1B:malate dehydrogenase 1B [Gene - HGNC]
  • MAIP1:matrix AAA peptidase interacting protein 1 [Gene - OMIM - HGNC]
  • MLPH:melanophilin [Gene - OMIM - HGNC]
  • MREG:melanoregulin [Gene - OMIM - HGNC]
  • MARCHF4:membrane associated ring-CH-type finger 4 [Gene - OMIM - HGNC]
  • MARS2:methionyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • METTL21A:methyltransferase 21A, HSPA lysine [Gene - OMIM - HGNC]
  • MIR1258:microRNA 1258 [Gene - OMIM - HGNC]
  • MIR149:microRNA 149 [Gene - OMIM - HGNC]
  • MIR26B:microRNA 26b [Gene - OMIM - HGNC]
  • MIR375:microRNA 375 [Gene - OMIM - HGNC]
  • MAP2:microtubule associated protein 2 [Gene - OMIM - HGNC]
  • MFF:mitochondrial fission factor [Gene - OMIM - HGNC]
  • MRPL44:mitochondrial ribosomal protein L44 [Gene - OMIM - HGNC]
  • MTERF4:mitochondrial transcription termination factor 4 [Gene - OMIM - HGNC]
  • MOGAT1:monoacylglycerol O-acyltransferase 1 [Gene - OMIM - HGNC]
  • MYO1B:myosin IB [Gene - OMIM - HGNC]
  • MYL1:myosin light chain 1 [Gene - OMIM - HGNC]
  • MSTN:myostatin [Gene - OMIM - HGNC]
  • NPPC:natriuretic peptide C [Gene - OMIM - HGNC]
  • NEU2:neuraminidase 2 [Gene - OMIM - HGNC]
  • NEU4:neuraminidase 4 [Gene - OMIM - HGNC]
  • NBEAL1:neurobeachin like 1 [Gene - OMIM - HGNC]
  • NMUR1:neuromedin U receptor 1 [Gene - OMIM - HGNC]
  • NEUROD1:neuronal differentiation 1 [Gene - OMIM - HGNC]
  • NGEF:neuronal guanine nucleotide exchange factor [Gene - OMIM - HGNC]
  • NYAP2:neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 [Gene - OMIM - HGNC]
  • NRP2:neuropilin 2 [Gene - OMIM - HGNC]
  • NHEJ1:non-homologous end joining factor 1 [Gene - OMIM - HGNC]
  • NEMP2:nuclear envelope integral membrane protein 2 [Gene - OMIM - HGNC]
  • NABP1:nucleic acid binding protein 1 [Gene - OMIM - HGNC]
  • NCL:nucleolin [Gene - OMIM - HGNC]
  • NUP35:nucleoporin 35 [Gene - OMIM - HGNC]
  • OBSL1:obscurin like cytoskeletal adaptor 1 [Gene - OMIM - HGNC]
  • OR6B2:olfactory receptor family 6 subfamily B member 2 [Gene - HGNC]
  • OR6B3:olfactory receptor family 6 subfamily B member 3 [Gene - HGNC]
  • ORC2:origin recognition complex subunit 2 [Gene - OMIM - HGNC]
  • OTOS:otospiralin [Gene - OMIM - HGNC]
  • OSBPL6:oxysterol binding protein like 6 [Gene - OMIM - HGNC]
  • PAX3:paired box 3 [Gene - OMIM - HGNC]
  • PARD3B:par-3 family cell polarity regulator beta [Gene - OMIM - HGNC]
  • PTH2R:parathyroid hormone 2 receptor [Gene - OMIM - HGNC]
  • PJVK:pejvakin [Gene - OMIM - HGNC]
  • PPIL3:peptidylprolyl isomerase like 3 [Gene - OMIM - HGNC]
  • PER2:period circadian regulator 2 [Gene - OMIM - HGNC]
  • PECR:peroxisomal trans-2-enoyl-CoA reductase [Gene - OMIM - HGNC]
  • FARSB:phenylalanyl-tRNA synthetase subunit beta [Gene - OMIM - HGNC]
  • PDE11A:phosphodiesterase 11A [Gene - OMIM - HGNC]
  • PDE1A:phosphodiesterase 1A [Gene - OMIM - HGNC]
  • PDE6D:phosphodiesterase 6D [Gene - OMIM - HGNC]
  • PIKFYVE:phosphoinositide kinase, FYVE-type zinc finger containing [Gene - OMIM - HGNC]
  • PLCD4:phospholipase C delta 4 [Gene - OMIM - HGNC]
  • PLCL1:phospholipase C like 1 (inactive) [Gene - OMIM - HGNC]
  • PID1:phosphotyrosine interaction domain containing 1 [Gene - OMIM - HGNC]
  • PLEKHA3:pleckstrin homology domain containing A3 [Gene - OMIM - HGNC]
  • PLEKHM3:pleckstrin homology domain containing M3 [Gene - OMIM - HGNC]
  • PGAP1:post-GPI attachment to proteins inositol deacylase 1 [Gene - OMIM - HGNC]
  • KCTD18:potassium channel tetramerization domain containing 18 [Gene - HGNC]
  • KCNJ13:potassium inwardly rectifying channel subfamily J member 13 [Gene - OMIM - HGNC]
  • KCNE4:potassium voltage-gated channel subfamily E regulatory subunit 4 [Gene - OMIM - HGNC]
  • PDCD1:programmed cell death 1 [Gene - OMIM - HGNC]
  • PRLH:prolactin releasing hormone [Gene - OMIM - HGNC]
  • PRR21:proline rich 21 [Gene - HGNC]
  • PSMD1:proteasome 26S subunit, non-ATPase 1 [Gene - OMIM - HGNC]
  • PRKRA:protein activator of interferon induced protein kinase EIF2AK2 [Gene - OMIM - HGNC]
  • PRKAG3:protein kinase AMP-activated non-catalytic subunit gamma 3 [Gene - OMIM - HGNC]
  • PPP1R1C:protein phosphatase 1 regulatory inhibitor subunit 1C [Gene - OMIM - HGNC]
  • PPP1R7:protein phosphatase 1 regulatory subunit 7 [Gene - OMIM - HGNC]
  • PTPRN:protein tyrosine phosphatase receptor type N [Gene - OMIM - HGNC]
  • PTMA:prothymosin alpha [Gene - OMIM - HGNC]
  • RFTN2:raftlin family member 2 [Gene - OMIM - HGNC]
  • RAMP1:receptor activity modifying protein 1 [Gene - OMIM - HGNC]
  • RTP5:receptor transporter protein 5 (putative) [Gene - HGNC]
  • RESP18:regulated endocrine specific protein 18 [Gene - OMIM - HGNC]
  • RETREG2:reticulophagy regulator family member 2 [Gene - HGNC]
  • RHBDD1:rhomboid domain containing 1 [Gene - OMIM - HGNC]
  • RPL37A:ribosomal protein L37a [Gene - OMIM - HGNC]
  • RPE:ribulose-5-phosphate-3-epimerase [Gene - OMIM - HGNC]
  • RNF25:ring finger protein 25 [Gene - OMIM - HGNC]
  • SNORC:secondary ossification center associated regulator of chondrocyte maturation [Gene - HGNC]
  • SPP2:secreted phosphoprotein 2 [Gene - OMIM - HGNC]
  • SCG2:secretogranin II [Gene - OMIM - HGNC]
  • SCLY:selenocysteine lyase [Gene - OMIM - HGNC]
  • SEPTIN2:septin 2 [Gene - OMIM - HGNC]
  • PRSS56:serine protease 56 [Gene - OMIM - HGNC]
  • STK11IP:serine/threonine kinase 11 interacting protein [Gene - OMIM - HGNC]
  • STK16:serine/threonine kinase 16 [Gene - OMIM - HGNC]
  • STK17B:serine/threonine kinase 17b [Gene - OMIM - HGNC]
  • STK25:serine/threonine kinase 25 [Gene - OMIM - HGNC]
  • STK36:serine/threonine kinase 36 [Gene - OMIM - HGNC]
  • SERPINE2:serpin family E member 2 [Gene - OMIM - HGNC]
  • SGO2:shugoshin 2 [Gene - OMIM - HGNC]
  • STAT1:signal transducer and activator of transcription 1 [Gene - OMIM - HGNC]
  • STAT4:signal transducer and activator of transcription 4 [Gene - OMIM - HGNC]
  • SNORD20:small nucleolar RNA, C/D box 20 [Gene - OMIM - HGNC]
  • SNORD82:small nucleolar RNA, C/D box 82 [Gene - OMIM - HGNC]
  • SUMO1:small ubiquitin like modifier 1 [Gene - OMIM - HGNC]
  • SLC11A1:solute carrier family 11 member 1 [Gene - OMIM - HGNC]
  • SLC16A14:solute carrier family 16 member 14 [Gene - HGNC]
  • SLC19A3:solute carrier family 19 member 3 [Gene - OMIM - HGNC]
  • SLC23A3:solute carrier family 23 member 3 [Gene - OMIM - HGNC]
  • SLC39A10:solute carrier family 39 member 10 [Gene - OMIM - HGNC]
  • SLC4A3:solute carrier family 4 member 3 [Gene - OMIM - HGNC]
  • SLC40A1:solute carrier family 40 member 1 [Gene - OMIM - HGNC]
  • SPAG16:sperm associated antigen 16 [Gene - OMIM - HGNC]
  • SPATA3:spermatogenesis associated 3 [Gene - OMIM - HGNC]
  • SPATS2L:spermatogenesis associated serine rich 2 like [Gene - OMIM - HGNC]
  • SGPP2:sphingosine-1-phosphate phosphatase 2 [Gene - OMIM - HGNC]
  • SF3B1:splicing factor 3b subunit 1 [Gene - OMIM - HGNC]
  • SPEG:striated muscle enriched protein kinase [Gene - OMIM - HGNC]
  • SNED1:sushi, nidogen and EGF like domains 1 [Gene - OMIM - HGNC]
  • TYW5:tRNA-yW synthesizing protein 5 [Gene - OMIM - HGNC]
  • TNS1:tensin 1 [Gene - OMIM - HGNC]
  • TEX44:testis expressed 44 [Gene - HGNC]
  • TRIP12:thyroid hormone receptor interactor 12 [Gene - OMIM - HGNC]
  • TIGD1:tigger transposable element derived 1 [Gene - OMIM - HGNC]
  • TFPI:tissue factor pathway inhibitor [Gene - OMIM - HGNC]
  • TTN:titin [Gene - OMIM - HGNC]
  • TRAK2:trafficking kinesin protein 2 [Gene - OMIM - HGNC]
  • TRPM8:transient receptor potential cation channel subfamily M member 8 [Gene - OMIM - HGNC]
  • TNP1:transition protein 1 [Gene - OMIM - HGNC]
  • TM4SF20:transmembrane 4 L six family member 20 [Gene - OMIM - HGNC]
  • TMBIM1:transmembrane BAX inhibitor motif containing 1 [Gene - OMIM - HGNC]
  • TMEM169:transmembrane protein 169 [Gene - HGNC]
  • TMEM198:transmembrane protein 198 [Gene - HGNC]
  • TMEM237:transmembrane protein 237 [Gene - OMIM - HGNC]
  • TMEFF2:transmembrane protein with EGF like and two follistatin like domains 2 [Gene - OMIM - HGNC]
  • TUBA4A:tubulin alpha 4a [Gene - OMIM - HGNC]
  • TTLL4:tubulin tyrosine ligase like 4 [Gene - OMIM - HGNC]
  • TWIST2:twist family bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • UBE2E3:ubiquitin conjugating enzyme E2 E3 [Gene - OMIM - HGNC]
  • UBE2F:ubiquitin conjugating enzyme E2 F (putative) [Gene - OMIM - HGNC]
  • USP37:ubiquitin specific peptidase 37 [Gene - OMIM - HGNC]
  • USP40:ubiquitin specific peptidase 40 [Gene - OMIM - HGNC]
  • UNC80:unc-80 homolog, NALCN channel complex subunit [Gene - OMIM - HGNC]
  • VIL1:villin 1 [Gene - OMIM - HGNC]
  • VWC2L:von Willebrand factor C domain containing 2 like [Gene - OMIM - HGNC]
  • ZFAND2B:zinc finger AN1-type containing 2B [Gene - OMIM - HGNC]
  • ZC3H15:zinc finger CCCH-type containing 15 [Gene - OMIM - HGNC]
  • ZDBF2:zinc finger DBF-type containing 2 [Gene - OMIM - HGNC]
  • ZSWIM2:zinc finger SWIM-type containing 2 [Gene - HGNC]
  • ZNF142:zinc finger protein 142 [Gene - OMIM - HGNC]
  • ZNF385B:zinc finger protein 385B [Gene - OMIM - HGNC]
  • ZNF804A:zinc finger protein 804A [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2q31.2-37.3
Genomic location:
Chr2: 178397959 - 243007457 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3
HGVS:

    Condition(s)

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

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001441127HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq
    no assertion criteria provided
    		Pathogenic
    (May 28, 2020)     		unknownresearch

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyes1not providednot provided1not providedresearch

    Details of each submission

    From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV001441127.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedresearchnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyes1not providednot provided1not providednot providednot provided

    Last Updated: Oct 14, 2023