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GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 25, 2018
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:
RCV000845852.2

Allele description [Variation Report for GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3]

GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3

Genes:
  • BPNT1:3'(2'), 5'-bisphosphate nucleotidase 1 [Gene - OMIM - HGNC]
  • MTR:5-methyltetrahydrofolate-homocysteine methyltransferase [Gene - OMIM - HGNC]
  • PFKFB2:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 [Gene - OMIM - HGNC]
  • ARF1:ADP ribosylation factor 1 [Gene - OMIM - HGNC]
  • ARL8A:ADP ribosylation factor like GTPase 8A [Gene - OMIM - HGNC]
  • AKT3:AKT serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • ARV1:ARV1 homolog, fatty acid homeostasis modulator [Gene - OMIM - HGNC]
  • AHCTF1:AT-hook containing transcription factor 1 [Gene - OMIM - HGNC]
  • ARID4B:AT-rich interaction domain 4B [Gene - OMIM - HGNC]
  • ABCB10:ATP binding cassette subfamily B member 10 [Gene - OMIM - HGNC]
  • ATP6V1G3:ATPase H+ transporting V1 subunit G3 [Gene - OMIM - HGNC]
  • ATP2B4:ATPase plasma membrane Ca2+ transporting 4 [Gene - OMIM - HGNC]
  • BRINP3:BMP/retinoic acid inducible neural specific 3 [Gene - OMIM - HGNC]
  • BROX:BRO1 domain and CAAX motif containing [Gene - HGNC]
  • BTG2:BTG anti-proliferation factor 2 [Gene - OMIM - HGNC]
  • CD34:CD34 molecule [Gene - OMIM - HGNC]
  • CD46:CD46 molecule [Gene - OMIM - HGNC]
  • CD55:CD55 molecule (Cromer blood group) [Gene - OMIM - HGNC]
  • CDC42BPA:CDC42 binding protein kinase alpha [Gene - OMIM - HGNC]
  • CHML:CHM like Rab escort protein [Gene - OMIM - HGNC]
  • DDX59:DEAD-box helicase 59 [Gene - OMIM - HGNC]
  • DENND1B:DENN domain containing 1B [Gene - OMIM - HGNC]
  • DHX9:DExH-box helicase 9 [Gene - OMIM - HGNC]
  • DISC1:DISC1 scaffold protein [Gene - OMIM - HGNC]
  • ELF3:E74 like ETS transcription factor 3 [Gene - OMIM - HGNC]
  • EDARADD:EDAR associated via death domain [Gene - OMIM - HGNC]
  • EFCAB2:EF-hand calcium binding domain 2 [Gene - OMIM - HGNC]
  • ENAH:ENAH actin regulator [Gene - OMIM - HGNC]
  • EDEM3:ER degradation enhancing alpha-mannosidase like protein 3 [Gene - OMIM - HGNC]
  • ELK4:ETS transcription factor ELK4 [Gene - OMIM - HGNC]
  • FBXO28:F-box protein 28 [Gene - OMIM - HGNC]
  • FLVCR1:FLVCR choline and heme transporter 1 [Gene - OMIM - HGNC]
  • FLVCR1-DT:FLVCR1 divergent transcript [Gene - OMIM - HGNC]
  • FCAMR:Fc alpha and mu receptor [Gene - OMIM - HGNC]
  • FCMR:Fc mu receptor [Gene - OMIM - HGNC]
  • GNG4:G protein subunit gamma 4 [Gene - OMIM - HGNC]
  • GPR137B:G protein-coupled receptor 137B [Gene - OMIM - HGNC]
  • GPR25:G protein-coupled receptor 25 [Gene - OMIM - HGNC]
  • GPR37L1:G protein-coupled receptor 37 like 1 [Gene - OMIM - HGNC]
  • GPATCH2:G-patch domain containing 2 [Gene - OMIM - HGNC]
  • G0S2:G0/G1 switch 2 [Gene - OMIM - HGNC]
  • HLX:H2.0 like homeobox [Gene - OMIM - HGNC]
  • H2AC25:H2A clustered histone 25 [Gene - OMIM - HGNC]
  • H2BC26:H2B clustered histone 26 [Gene - OMIM - HGNC]
  • H3-3A:H3.3 histone A [Gene - OMIM - HGNC]
  • H3-4:H3.4 histone, cluster member [Gene - OMIM - HGNC]
  • HEATR1:HEAT repeat containing 1 [Gene - OMIM - HGNC]
  • HHIPL2:HHIP like 2 [Gene - OMIM - HGNC]
  • IKBKE-AS1:IKBKE antisense RNA 1 [Gene - HGNC]
  • KISS1:KiSS-1 metastasis suppressor [Gene - OMIM - HGNC]
  • LEMD1:LEM domain containing 1 [Gene - OMIM - HGNC]
  • LHX9:LIM homeobox 9 [Gene - OMIM - HGNC]
  • LYPD8:LY6/PLAUR domain containing 8 [Gene - OMIM - HGNC]
  • MAPKAPK2:MAPK activated protein kinase 2 [Gene - OMIM - HGNC]
  • MDM4:MDM4 regulator of p53 [Gene - OMIM - HGNC]
  • MIA3:MIA SH3 domain ER export factor 3 [Gene - OMIM - HGNC]
  • MIR205HG:MIR205 host gene [Gene - HGNC]
  • MIR29B2CHG:MIR29B2 and MIR29C host gene [Gene - HGNC]
  • MIXL1:Mix paired-like homeobox [Gene - OMIM - HGNC]
  • NPL:N-acetylneuraminate pyruvate lyase [Gene - OMIM - HGNC]
  • NEK2:NIMA related kinase 2 [Gene - OMIM - HGNC]
  • NEK7:NIMA related kinase 7 [Gene - OMIM - HGNC]
  • NLRP3:NLR family pyrin domain containing 3 [Gene - OMIM - HGNC]
  • NSL1:NSL1 component of MIS12 kinetochore complex [Gene - OMIM - HGNC]
  • NUAK2:NUAK family kinase 2 [Gene - OMIM - HGNC]
  • PPFIA4:PTPRF interacting protein alpha 4 [Gene - OMIM - HGNC]
  • RABIF:RAB interacting factor [Gene - OMIM - HGNC]
  • RAB29:RAB29, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB3GAP2:RAB3 GTPase activating non-catalytic protein subunit 2 [Gene - OMIM - HGNC]
  • RAB4A:RAB4A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RBBP5:RB binding protein 5, histone lysine methyltransferase complex subunit [Gene - OMIM - HGNC]
  • RD3:RD3 regulator of GUCY2D [Gene - OMIM - HGNC]
  • RCOR3:REST corepressor 3 [Gene - OMIM - HGNC]
  • RBM34:RNA binding motif protein 34 [Gene - OMIM - HGNC]
  • RASSF5:Ras association domain family member 5 [Gene - OMIM - HGNC]
  • RO60:Ro60, Y RNA binding protein [Gene - OMIM - HGNC]
  • SPHAR:S-phase response (cyclin related) [Gene - HGNC]
  • SDE2:SDE2 telomere maintenance homolog [Gene - OMIM - HGNC]
  • SERTAD4:SERTA domain containing 4 [Gene - HGNC]
  • SMYD2:SET and MYND domain containing 2 [Gene - OMIM - HGNC]
  • SMYD3:SET and MYND domain containing 3 [Gene - OMIM - HGNC]
  • SH3BP5L:SH3 binding domain protein 5 like [Gene - OMIM - HGNC]
  • SHCBP1L:SHC binding and spindle associated 1 like [Gene - OMIM - HGNC]
  • SDCCAG8:SHH signaling and ciliogenesis regulator SDCCAG8 [Gene - OMIM - HGNC]
  • SRGAP2:SLIT-ROBO Rho GTPase activating protein 2 [Gene - OMIM - HGNC]
  • SMG7:SMG7 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
  • SOX13:SRY-box transcription factor 13 [Gene - OMIM - HGNC]
  • SWT1:SWT1 RNA endoribonuclease homolog [Gene - OMIM - HGNC]
  • SPRTN:SprT-like N-terminal domain [Gene - OMIM - HGNC]
  • TARBP1:TAR (HIV-1) RNA binding protein 1 [Gene - OMIM - HGNC]
  • TAF5L:TATA-box binding protein associated factor 5 like [Gene - HGNC]
  • TAF1A:TATA-box binding protein associated factor, RNA polymerase I subunit A [Gene - OMIM - HGNC]
  • TRAF5:TNF receptor associated factor 5 [Gene - OMIM - HGNC]
  • TRAF3IP3:TRAF3 interacting protein 3 [Gene - OMIM - HGNC]
  • TATDN3:TatD DNase domain containing 3 [Gene - HGNC]
  • URB2:URB2 ribosome biogenesis homolog [Gene - OMIM - HGNC]
  • UTP25:UTP25 small subunit processome component [Gene - OMIM - HGNC]
  • WDR26:WD repeat domain 26 [Gene - OMIM - HGNC]
  • WDR64:WD repeat domain 64 [Gene - HGNC]
  • WNT3A:Wnt family member 3A [Gene - OMIM - HGNC]
  • WNT9A:Wnt family member 9A [Gene - OMIM - HGNC]
  • YOD1:YOD1 deubiquitinase [Gene - OMIM - HGNC]
  • ASCL5:achaete-scute family bHLH transcription factor 5 [Gene - OMIM - HGNC]
  • ACTA1:actin alpha 1, skeletal muscle [Gene - OMIM - HGNC]
  • ARPC5:actin related protein 2/3 complex subunit 5 [Gene - OMIM - HGNC]
  • ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]
  • ATF3:activating transcription factor 3 [Gene - OMIM - HGNC]
  • ACBD3:acyl-CoA binding domain containing 3 [Gene - OMIM - HGNC]
  • ADORA1:adenosine A1 receptor [Gene - OMIM - HGNC]
  • ADSS2:adenylosuccinate synthase 2 [Gene - OMIM - HGNC]
  • ADIPOR1:adiponectin receptor 1 [Gene - OMIM - HGNC]
  • ANGEL2:angel homolog 2 [Gene - OMIM - HGNC]
  • AGT:angiotensinogen [Gene - OMIM - HGNC]
  • APOBEC4:apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 [Gene - OMIM - HGNC]
  • AVPR1B:arginine vasopressin receptor 1B [Gene - OMIM - HGNC]
  • RNPEP:arginyl aminopeptidase [Gene - OMIM - HGNC]
  • ASPM:assembly factor for spindle microtubules [Gene - OMIM - HGNC]
  • AIDA:axin interactor, dorsalization associated [Gene - OMIM - HGNC]
  • BATF3:basic leucine zipper ATF-like transcription factor 3 [Gene - OMIM - HGNC]
  • B3GALNT2:beta-1,3-N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
  • B3GALT2:beta-1,3-galactosyltransferase 2 [Gene - OMIM - HGNC]
  • BTNL10:butyrophilin like 10 [Gene - HGNC]
  • CACNA1S:calcium voltage-gated channel subunit alpha1 S [Gene - OMIM - HGNC]
  • CAMK1G:calcium/calmodulin dependent protein kinase IG [Gene - OMIM - HGNC]
  • CAMSAP2:calmodulin regulated spectrin associated protein family member 2 [Gene - OMIM - HGNC]
  • CAPN2:calpain 2 [Gene - OMIM - HGNC]
  • CAPN8:calpain 8 [Gene - OMIM - HGNC]
  • CAPN9:calpain 9 [Gene - OMIM - HGNC]
  • CTSE:cathepsin E [Gene - OMIM - HGNC]
  • CATSPERE:catsper channel auxiliary subunit epsilon [Gene - OMIM - HGNC]
  • CDC73:cell division cycle 73 [Gene - OMIM - HGNC]
  • CCSAP:centriole, cilia and spindle associated protein [Gene - OMIM - HGNC]
  • CENPF:centromere protein F [Gene - OMIM - HGNC]
  • CEP170:centrosomal protein 170 [Gene - OMIM - HGNC]
  • CHIT1:chitinase 1 [Gene - OMIM - HGNC]
  • CHI3L1:chitinase 3 like 1 [Gene - OMIM - HGNC]
  • CHRM3:cholinergic receptor muscarinic 3 [Gene - OMIM - HGNC]
  • C1orf115:chromosome 1 open reading frame 115 [Gene - HGNC]
  • C1orf116:chromosome 1 open reading frame 116 [Gene - OMIM - HGNC]
  • C1orf131:chromosome 1 open reading frame 131 [Gene - HGNC]
  • C1orf198:chromosome 1 open reading frame 198 [Gene - HGNC]
  • C1orf21:chromosome 1 open reading frame 21 [Gene - HGNC]
  • C1orf35:chromosome 1 open reading frame 35 [Gene - HGNC]
  • C1orf53:chromosome 1 open reading frame 53 [Gene - HGNC]
  • C1orf74:chromosome 1 open reading frame 74 [Gene - HGNC]
  • F13B:coagulation factor XIII B chain [Gene - OMIM - HGNC]
  • COQ8A:coenzyme Q8A [Gene - OMIM - HGNC]
  • CCDC185:coiled-coil domain containing 185 [Gene - HGNC]
  • COLGALT2:collagen beta(1-O)galactosyltransferase 2 [Gene - OMIM - HGNC]
  • CR1:complement C3b/C4b receptor 1 (Knops blood group) [Gene - OMIM - HGNC]
  • CR1L:complement C3b/C4b receptor 1 like [Gene - OMIM - HGNC]
  • CR2:complement C3d receptor 2 [Gene - OMIM - HGNC]
  • C4BPA:complement component 4 binding protein alpha [Gene - OMIM - HGNC]
  • C4BPB:complement component 4 binding protein beta [Gene - OMIM - HGNC]
  • CFHR1:complement factor H related 1 [Gene - OMIM - HGNC]
  • CFHR2:complement factor H related 2 [Gene - OMIM - HGNC]
  • CFHR3:complement factor H related 3 [Gene - OMIM - HGNC]
  • CFHR4:complement factor H related 4 [Gene - OMIM - HGNC]
  • CFHR5:complement factor H related 5 [Gene - OMIM - HGNC]
  • CFH:complement factor H [Gene - OMIM - HGNC]
  • COG2:component of oligomeric golgi complex 2 [Gene - OMIM - HGNC]
  • CNST:consortin, connexin sorting protein [Gene - OMIM - HGNC]
  • CNTN2:contactin 2 [Gene - OMIM - HGNC]
  • CNIH3:cornichon family AMPA receptor auxiliary protein 3 [Gene - HGNC]
  • CNIH4:cornichon family member 4 [Gene - OMIM - HGNC]
  • CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]
  • CDK18:cyclin dependent kinase 18 [Gene - OMIM - HGNC]
  • CSRP1:cysteine and glycine rich protein 1 [Gene - OMIM - HGNC]
  • CYB5R1:cytochrome b5 reductase 1 [Gene - OMIM - HGNC]
  • COA6:cytochrome c oxidase assembly factor 6 [Gene - OMIM - HGNC]
  • COX20:cytochrome c oxidase assembly factor COX20 [Gene - OMIM - HGNC]
  • DEGS1:delta 4-desaturase, sphingolipid 1 [Gene - OMIM - HGNC]
  • DTL:denticleless E3 ubiquitin protein ligase homolog [Gene - OMIM - HGNC]
  • DESI2:desumoylating isopeptidase 2 [Gene - OMIM - HGNC]
  • DISP1:dispatched RND transporter family member 1 [Gene - OMIM - HGNC]
  • DISC2:disrupted in schizophrenia 2 [Gene - OMIM - HGNC]
  • DSTYK:dual serine/threonine and tyrosine protein kinase [Gene - OMIM - HGNC]
  • DUSP10:dual specificity phosphatase 10 [Gene - OMIM - HGNC]
  • DYRK3:dual specificity tyrosine phosphorylation regulated kinase 3 [Gene - OMIM - HGNC]
  • DNAH14:dynein axonemal heavy chain 14 [Gene - OMIM - HGNC]
  • EGLN1:egl-9 family hypoxia inducible factor 1 [Gene - OMIM - HGNC]
  • ERO1B:endoplasmic reticulum oxidoreductase 1 beta [Gene - OMIM - HGNC]
  • EPHX1:epoxide hydrolase 1 [Gene - OMIM - HGNC]
  • ESRRG:estrogen related receptor gamma [Gene - OMIM - HGNC]
  • ETNK2:ethanolamine kinase 2 [Gene - OMIM - HGNC]
  • EIF2D:eukaryotic translation initiation factor 2D [Gene - OMIM - HGNC]
  • EXOC8:exocyst complex component 8 [Gene - OMIM - HGNC]
  • EXO1:exonuclease 1 [Gene - OMIM - HGNC]
  • FAM177B:family with sequence similarity 177 member B [Gene - HGNC]
  • FAM72A:family with sequence similarity 72 member A [Gene - OMIM - HGNC]
  • FAM89A:family with sequence similarity 89 member A [Gene - HGNC]
  • FMOD:fibromodulin [Gene - OMIM - HGNC]
  • FMN2:formin 2 [Gene - OMIM - HGNC]
  • FH:fumarate hydratase [Gene - OMIM - HGNC]
  • LGALS8:galectin 8 [Gene - OMIM - HGNC]
  • GJC2:gap junction protein gamma 2 [Gene - OMIM - HGNC]
  • GGPS1:geranylgeranyl diphosphate synthase 1 [Gene - OMIM - HGNC]
  • GCSAML:germinal center associated signaling and motility like [Gene - HGNC]
  • EPRS1:glutamyl-prolyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • GLRX2:glutaredoxin 2 [Gene - OMIM - HGNC]
  • GNPAT:glyceronephosphate O-acyltransferase [Gene - OMIM - HGNC]
  • GARIN4:golgi associated RAB2 interactor family member 4 [Gene - OMIM - HGNC]
  • GOLT1A:golgi transport 1A [Gene - OMIM - HGNC]
  • GREM2:gremlin 2, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • GUK1:guanylate kinase 1 [Gene - OMIM - HGNC]
  • HHAT:hedgehog acyltransferase [Gene - OMIM - HGNC]
  • HMCN1:hemicentin 1 [Gene - OMIM - HGNC]
  • HNRNPU:heterogeneous nuclear ribonucleoprotein U [Gene - OMIM - HGNC]
  • HSD11B1:hydroxysteroid 11-beta dehydrogenase 1 [Gene - OMIM - HGNC]
  • IGFN1:immunoglobulin like and fibronectin type III domain containing 1 [Gene - OMIM - HGNC]
  • IPO9:importin 9 [Gene - OMIM - HGNC]
  • IVNS1ABP:influenza virus NS1A binding protein [Gene - OMIM - HGNC]
  • IKBKE:inhibitor of nuclear factor kappa B kinase subunit epsilon [Gene - OMIM - HGNC]
  • INAVA:innate immunity activator [Gene - OMIM - HGNC]
  • ITPKB:inositol-trisphosphate 3-kinase B [Gene - OMIM - HGNC]
  • INTS7:integrator complex subunit 7 [Gene - OMIM - HGNC]
  • IRF2BP2:interferon regulatory factor 2 binding protein 2 [Gene - OMIM - HGNC]
  • IRF6:interferon regulatory factor 6 [Gene - OMIM - HGNC]
  • IL10:interleukin 10 [Gene - OMIM - HGNC]
  • IL19:interleukin 19 [Gene - OMIM - HGNC]
  • IL20:interleukin 20 [Gene - OMIM - HGNC]
  • IL24:interleukin 24 [Gene - OMIM - HGNC]
  • IBA57:iron-sulfur cluster assembly factor IBA57 [Gene - OMIM - HGNC]
  • IARS2:isoleucyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • JMJD4:jumonji domain containing 4 [Gene - OMIM - HGNC]
  • KLHDC8A:kelch domain containing 8A [Gene - OMIM - HGNC]
  • KLHL12:kelch like family member 12 [Gene - OMIM - HGNC]
  • KIF14:kinesin family member 14 [Gene - OMIM - HGNC]
  • KIF21B:kinesin family member 21B [Gene - OMIM - HGNC]
  • KIF26B:kinesin family member 26B [Gene - OMIM - HGNC]
  • KMO:kynurenine 3-monooxygenase [Gene - OMIM - HGNC]
  • LAD1:ladinin 1 [Gene - OMIM - HGNC]
  • LBR:lamin B receptor [Gene - OMIM - HGNC]
  • LAMB3:laminin subunit beta 3 [Gene - OMIM - HGNC]
  • LAMC1:laminin subunit gamma 1 [Gene - OMIM - HGNC]
  • LAMC2:laminin subunit gamma 2 [Gene - OMIM - HGNC]
  • LEFTY1:left-right determination factor 1 [Gene - OMIM - HGNC]
  • LEFTY2:left-right determination factor 2 [Gene - OMIM - HGNC]
  • LMOD1:leiomodin 1 [Gene - OMIM - HGNC]
  • LGR6:leucine rich repeat containing G protein-coupled receptor 6 [Gene - OMIM - HGNC]
  • LRRN2:leucine rich repeat neuronal 2 [Gene - OMIM - HGNC]
  • LIN9:lin-9 DREAM MuvB core complex component [Gene - OMIM - HGNC]
  • LNCATV:lncRNA negative regulator of antiviral signaling [Gene - HGNC]
  • LINC02897:long intergenic non-protein coding RNA 2897 [Gene - HGNC]
  • LINC00538:long intergenic non-protein coding RNA 538 [Gene - OMIM - HGNC]
  • LAX1:lymphocyte transmembrane adaptor 1 [Gene - OMIM - HGNC]
  • KDM5B:lysine demethylase 5B [Gene - OMIM - HGNC]
  • LPGAT1:lysophosphatidylglycerol acyltransferase 1 [Gene - OMIM - HGNC]
  • LYPLAL1:lysophospholipase like 1 [Gene - OMIM - HGNC]
  • LYST:lysosomal trafficking regulator [Gene - OMIM - HGNC]
  • MFSD4A:major facilitator superfamily domain containing 4A [Gene - OMIM - HGNC]
  • MT1HL1:metallothionein 1H like 1 [Gene - HGNC]
  • MIR181A1:microRNA 181a-1 [Gene - OMIM - HGNC]
  • MIR181B1:microRNA 181b-1 [Gene - OMIM - HGNC]
  • MIR194-1:microRNA 194-1 [Gene - OMIM - HGNC]
  • MIR205:microRNA 205 [Gene - OMIM - HGNC]
  • MIR215:microRNA 215 [Gene - OMIM - HGNC]
  • MIR29C:microRNA 29c [Gene - OMIM - HGNC]
  • MARK1:microtubule affinity regulating kinase 1 [Gene - OMIM - HGNC]
  • MAP1LC3C:microtubule associated protein 1 light chain 3 gamma [Gene - OMIM - HGNC]
  • MAP10:microtubule associated protein 10 [Gene - OMIM - HGNC]
  • MTARC1:mitochondrial amidoxime reducing component 1 [Gene - OMIM - HGNC]
  • MTARC2:mitochondrial amidoxime reducing component 2 [Gene - OMIM - HGNC]
  • MRPL55:mitochondrial ribosomal protein L55 [Gene - OMIM - HGNC]
  • MAP3K21:mitogen-activated protein kinase kinase kinase 21 [Gene - OMIM - HGNC]
  • MYOG:myogenin [Gene - OMIM - HGNC]
  • MYBPH:myosin binding protein H [Gene - OMIM - HGNC]
  • NENF:neudesin neurotrophic factor [Gene - OMIM - HGNC]
  • NFASC:neurofascin [Gene - OMIM - HGNC]
  • NAV1:neuron navigator 1 [Gene - OMIM - HGNC]
  • NCF2:neutrophil cytosolic factor 2 [Gene - OMIM - HGNC]
  • NIBAN1:niban apoptosis regulator 1 [Gene - OMIM - HGNC]
  • NMNAT2:nicotinamide nucleotide adenylyltransferase 2 [Gene - OMIM - HGNC]
  • NID1:nidogen 1 [Gene - OMIM - HGNC]
  • NVL:nuclear VCP like [Gene - OMIM - HGNC]
  • NUCKS1:nuclear casein kinase and cyclin dependent kinase substrate 1 [Gene - OMIM - HGNC]
  • NR5A2:nuclear receptor subfamily 5 group A member 2 [Gene - OMIM - HGNC]
  • NUP133:nucleoporin 133 [Gene - OMIM - HGNC]
  • NTPCR:nucleoside-triphosphatase, cancer-related [Gene - HGNC]
  • OBSCN:obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Gene - OMIM - HGNC]
  • OCLM:oculomedin [Gene - OMIM - HGNC]
  • ODR4:odr-4 GPCR localization factor homolog [Gene - OMIM - HGNC]
  • OR1C1:olfactory receptor family 1 subfamily C member 1 [Gene - HGNC]
  • OR11L1:olfactory receptor family 11 subfamily L member 1 [Gene - HGNC]
  • OR13G1:olfactory receptor family 13 subfamily G member 1 [Gene - OMIM - HGNC]
  • OR14A16:olfactory receptor family 14 subfamily A member 16 [Gene - HGNC]
  • OR14C36:olfactory receptor family 14 subfamily C member 36 [Gene - HGNC]
  • OR14I1:olfactory receptor family 14 subfamily I member 1 [Gene - OMIM - HGNC]
  • OR2AK2:olfactory receptor family 2 subfamily AK member 2 [Gene - HGNC]
  • OR2B11:olfactory receptor family 2 subfamily B member 11 [Gene - HGNC]
  • OR2C3:olfactory receptor family 2 subfamily C member 3 [Gene - HGNC]
  • OR2G2:olfactory receptor family 2 subfamily G member 2 [Gene - HGNC]
  • OR2G3:olfactory receptor family 2 subfamily G member 3 [Gene - HGNC]
  • OR2G6:olfactory receptor family 2 subfamily G member 6 [Gene - HGNC]
  • OR2L13:olfactory receptor family 2 subfamily L member 13 [Gene - HGNC]
  • OR2L2:olfactory receptor family 2 subfamily L member 2 [Gene - HGNC]
  • OR2L3:olfactory receptor family 2 subfamily L member 3 [Gene - HGNC]
  • OR2L5:olfactory receptor family 2 subfamily L member 5 [Gene - HGNC]
  • OR2L8:olfactory receptor family 2 subfamily L member 8 [Gene - HGNC]
  • OR2M2:olfactory receptor family 2 subfamily M member 2 [Gene - HGNC]
  • OR2M3:olfactory receptor family 2 subfamily M member 3 [Gene - HGNC]
  • OR2M4:olfactory receptor family 2 subfamily M member 4 [Gene - HGNC]
  • OR2M5:olfactory receptor family 2 subfamily M member 5 [Gene - HGNC]
  • OR2M7:olfactory receptor family 2 subfamily M member 7 [Gene - OMIM - HGNC]
  • OR2T10:olfactory receptor family 2 subfamily T member 10 [Gene - HGNC]
  • OR2T11:olfactory receptor family 2 subfamily T member 11 [Gene - HGNC]
  • OR2T12:olfactory receptor family 2 subfamily T member 12 [Gene - HGNC]
  • OR2T1:olfactory receptor family 2 subfamily T member 1 [Gene - HGNC]
  • OR2T27:olfactory receptor family 2 subfamily T member 27 [Gene - HGNC]
  • OR2T29:olfactory receptor family 2 subfamily T member 29 [Gene - HGNC]
  • OR2T2:olfactory receptor family 2 subfamily T member 2 [Gene - HGNC]
  • OR2T33:olfactory receptor family 2 subfamily T member 33 [Gene - HGNC]
  • OR2T34:olfactory receptor family 2 subfamily T member 34 [Gene - HGNC]
  • OR2T35:olfactory receptor family 2 subfamily T member 35 [Gene - HGNC]
  • OR2T3:olfactory receptor family 2 subfamily T member 3 [Gene - HGNC]
  • OR2T4:olfactory receptor family 2 subfamily T member 4 [Gene - HGNC]
  • OR2T5:olfactory receptor family 2 subfamily T member 5 [Gene - HGNC]
  • OR2T6:olfactory receptor family 2 subfamily T member 6 [Gene - HGNC]
  • OR2T8:olfactory receptor family 2 subfamily T member 8 [Gene - HGNC]
  • OR2W3:olfactory receptor family 2 subfamily W member 3 [Gene - OMIM - HGNC]
  • OR6F1:olfactory receptor family 6 subfamily F member 1 [Gene - HGNC]
  • OPN3:opsin 3 [Gene - OMIM - HGNC]
  • OPTC:opticin [Gene - OMIM - HGNC]
  • PCNX2:pecanex 2 [Gene - OMIM - HGNC]
  • PM20D1:peptidase M20 domain containing 1 [Gene - OMIM - HGNC]
  • PDC:phosducin [Gene - OMIM - HGNC]
  • PIK3C2B:phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta [Gene - OMIM - HGNC]
  • PLA2G4A:phospholipase A2 group IVA [Gene - OMIM - HGNC]
  • PLD5:phospholipase D family member 5 [Gene - HGNC]
  • PGBD5:piggyBac transposable element derived 5 [Gene - OMIM - HGNC]
  • PKP1:plakophilin 1 [Gene - OMIM - HGNC]
  • PLEKHA6:pleckstrin homology domain containing A6 [Gene - OMIM - HGNC]
  • PHLDA3:pleckstrin homology like domain family A member 3 [Gene - OMIM - HGNC]
  • PLXNA2:plexin A2 [Gene - OMIM - HGNC]
  • PARP1:poly(ADP-ribose) polymerase 1 [Gene - OMIM - HGNC]
  • PIGR:polymeric immunoglobulin receptor [Gene - OMIM - HGNC]
  • GALNT2:polypeptide N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
  • KCTD3:potassium channel tetramerization domain containing 3 [Gene - OMIM - HGNC]
  • KCNT2:potassium sodium-activated channel subfamily T member 2 [Gene - OMIM - HGNC]
  • KCNK1:potassium two pore domain channel subfamily K member 1 [Gene - OMIM - HGNC]
  • KCNK2:potassium two pore domain channel subfamily K member 2 [Gene - OMIM - HGNC]
  • KCNH1:potassium voltage-gated channel subfamily H member 1 [Gene - OMIM - HGNC]
  • PSEN2:presenilin 2 [Gene - OMIM - HGNC]
  • PRELP:proline and arginine rich end leucine rich repeat protein [Gene - OMIM - HGNC]
  • PROX1:prospero homeobox 1 [Gene - OMIM - HGNC]
  • PTGS2:prostaglandin-endoperoxide synthase 2 [Gene - OMIM - HGNC]
  • PCAT6:prostate cancer associated transcript 6 [Gene - HGNC]
  • PPP1R12B:protein phosphatase 1 regulatory subunit 12B [Gene - OMIM - HGNC]
  • PPP1R15B:protein phosphatase 1 regulatory subunit 15B [Gene - OMIM - HGNC]
  • PPP2R5A:protein phosphatase 2 regulatory subunit B'alpha [Gene - OMIM - HGNC]
  • PTPN14:protein tyrosine phosphatase non-receptor type 14 [Gene - OMIM - HGNC]
  • PTPN7:protein tyrosine phosphatase non-receptor type 7 [Gene - OMIM - HGNC]
  • PTPRC:protein tyrosine phosphatase receptor type C [Gene - OMIM - HGNC]
  • PRG4:proteoglycan 4 [Gene - OMIM - HGNC]
  • PACC1:proton activated chloride channel 1 [Gene - OMIM - HGNC]
  • PYCR2:pyrroline-5-carboxylate reductase 2 [Gene - OMIM - HGNC]
  • RGL1:ral guanine nucleotide dissociation stimulator like 1 [Gene - OMIM - HGNC]
  • RHOU:ras homolog family member U [Gene - OMIM - HGNC]
  • RGS13:regulator of G protein signaling 13 [Gene - OMIM - HGNC]
  • RGS16:regulator of G protein signaling 16 [Gene - OMIM - HGNC]
  • RGS18:regulator of G protein signaling 18 [Gene - OMIM - HGNC]
  • RGS1:regulator of G protein signaling 1 [Gene - OMIM - HGNC]
  • RGS21:regulator of G protein signaling 21 [Gene - OMIM - HGNC]
  • RGS2:regulator of G protein signaling 2 [Gene - OMIM - HGNC]
  • RGS7:regulator of G protein signaling 7 [Gene - OMIM - HGNC]
  • RGS8:regulator of G protein signaling 8 [Gene - OMIM - HGNC]
  • RGSL1:regulator of G protein signaling like 1 [Gene - OMIM - HGNC]
  • RHEX:regulator of hemoglobinization and erythroid cell expansion [Gene - OMIM - HGNC]
  • REN:renin [Gene - OMIM - HGNC]
  • RNASEL:ribonuclease L [Gene - OMIM - HGNC]
  • RRP15:ribosomal RNA processing 15 homolog [Gene - OMIM - HGNC]
  • RPS6KC1:ribosomal protein S6 kinase C1 [Gene - OMIM - HGNC]
  • RNF187:ring finger protein 187 [Gene - OMIM - HGNC]
  • RNF2:ring finger protein 2 [Gene - OMIM - HGNC]
  • RYR2:ryanodine receptor 2 [Gene - OMIM - HGNC]
  • SCCPDH:saccharopine dehydrogenase (putative) [Gene - OMIM - HGNC]
  • PRSS38:serine protease 38 [Gene - HGNC]
  • SHISA4:shisa family member 4 [Gene - OMIM - HGNC]
  • SIPA1L2:signal induced proliferation associated 1 like 2 [Gene - OMIM - HGNC]
  • SRP9:signal recognition particle 9 [Gene - OMIM - HGNC]
  • SNRPE:small nuclear ribonucleoprotein polypeptide E [Gene - OMIM - HGNC]
  • SLC26A9:solute carrier family 26 member 9 [Gene - OMIM - HGNC]
  • SLC30A10:solute carrier family 30 member 10 [Gene - OMIM - HGNC]
  • SLC30A1:solute carrier family 30 member 1 [Gene - OMIM - HGNC]
  • SLC35F3:solute carrier family 35 member F3 [Gene - HGNC]
  • SLC41A1:solute carrier family 41 member 1 [Gene - OMIM - HGNC]
  • SLC45A3:solute carrier family 45 member 3 [Gene - OMIM - HGNC]
  • SPMIP3:sperm microtubule inner protein 3 [Gene - HGNC]
  • SPATA17:spermatogenesis associated 17 [Gene - OMIM - HGNC]
  • SPATA45:spermatogenesis associated 45 [Gene - HGNC]
  • STUM:stum, mechanosensory transduction mediator homolog [Gene - HGNC]
  • SUSD4:sushi domain containing 4 [Gene - OMIM - HGNC]
  • SNAP47:synaptosome associated protein 47 [Gene - OMIM - HGNC]
  • SYT14:synaptotagmin 14 [Gene - OMIM - HGNC]
  • SYT2:synaptotagmin 2 [Gene - OMIM - HGNC]
  • TRMT1L:tRNA methyltransferase 1 like [Gene - OMIM - HGNC]
  • TSEN15:tRNA splicing endonuclease subunit 15 [Gene - OMIM - HGNC]
  • TTC13:tetratricopeptide repeat domain 13 [Gene - HGNC]
  • TLR5:toll like receptor 5 [Gene - OMIM - HGNC]
  • TFB2M:transcription factor B2, mitochondrial [Gene - OMIM - HGNC]
  • TGFB2:transforming growth factor beta 2 [Gene - OMIM - HGNC]
  • TSNAX:translin associated factor X [Gene - OMIM - HGNC]
  • TIMM17A:translocase of inner mitochondrial membrane 17A [Gene - OMIM - HGNC]
  • TOMM20:translocase of outer mitochondrial membrane 20 [Gene - OMIM - HGNC]
  • TPR:translocated promoter region, nuclear basket protein [Gene - OMIM - HGNC]
  • TMCC2:transmembrane and coiled-coil domain family 2 [Gene - OMIM - HGNC]
  • TMEM183A:transmembrane protein 183A [Gene - HGNC]
  • TMEM63A:transmembrane protein 63A [Gene - OMIM - HGNC]
  • TMEM81:transmembrane protein 81 [Gene - HGNC]
  • TMEM9:transmembrane protein 9 [Gene - OMIM - HGNC]
  • TRIM11:tripartite motif containing 11 [Gene - OMIM - HGNC]
  • TRIM17:tripartite motif containing 17 [Gene - OMIM - HGNC]
  • TRIM58:tripartite motif containing 58 [Gene - OMIM - HGNC]
  • TRIM67:tripartite motif containing 67 [Gene - OMIM - HGNC]
  • TNNI1:troponin I1, slow skeletal type [Gene - OMIM - HGNC]
  • TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]
  • TBCE:tubulin folding cofactor E [Gene - OMIM - HGNC]
  • TP53BP2:tumor protein p53 binding protein 2 [Gene - OMIM - HGNC]
  • UCHL5:ubiquitin C-terminal hydrolase L5 [Gene - OMIM - HGNC]
  • UBE2T:ubiquitin conjugating enzyme E2 T [Gene - OMIM - HGNC]
  • USH2A:usherin [Gene - OMIM - HGNC]
  • VASH2:vasohibin 2 [Gene - OMIM - HGNC]
  • VN1R5:vomeronasal 1 receptor 5 (gene/pseudogene) [Gene - HGNC]
  • ZBED6:zinc finger BED-type containing 6 [Gene - OMIM - HGNC]
  • ZC3H11A:zinc finger CCCH-type containing 11A [Gene - OMIM - HGNC]
  • ZBTB18:zinc finger and BTB domain containing 18 [Gene - OMIM - HGNC]
  • ZBTB41:zinc finger and BTB domain containing 41 [Gene - HGNC]
  • ZNF124:zinc finger protein 124 [Gene - OMIM - HGNC]
  • ZNF281:zinc finger protein 281 [Gene - OMIM - HGNC]
  • ZNF496:zinc finger protein 496 [Gene - OMIM - HGNC]
  • ZNF669:zinc finger protein 669 [Gene - HGNC]
  • ZNF670:zinc finger protein 670 [Gene - HGNC]
  • ZNF678:zinc finger protein 678 [Gene - HGNC]
  • ZNF695:zinc finger protein 695 [Gene - OMIM - HGNC]
  • ZP4:zona pellucida glycoprotein 4 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1q25.3-44
Genomic location:
Chr1: 182388773 - 249111240 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000987973Bionano Laboratories
    no assertion criteria provided
    		Pathogenic
    (Jan 25, 2018)     		unknownclinical testing

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    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Bionano Laboratories, SCV000987973.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providedBuccalnot providednot providednot providednot providednot provided

    Last Updated: Sep 1, 2024