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GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 AND not specified

Germline classification:
Pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003986893.1

Allele description [Variation Report for GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3]

GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3

Genes:
  • HOGA1:4-hydroxy-2-oxoglutarate aldolase 1 [Gene - OMIM - HGNC]
  • NT5C2:5'-nucleotidase, cytosolic II [Gene - OMIM - HGNC]
  • ADAM12:ADAM metallopeptidase domain 12 [Gene - OMIM - HGNC]
  • ADAM8:ADAM metallopeptidase domain 8 [Gene - OMIM - HGNC]
  • ARL3:ADP ribosylation factor like GTPase 3 [Gene - OMIM - HGNC]
  • ABCC2:ATP binding cassette subfamily C member 2 [Gene - OMIM - HGNC]
  • ATP5MK:ATP synthase membrane subunit k [Gene - OMIM - HGNC]
  • BLNK:B cell linker [Gene - OMIM - HGNC]
  • BAG3:BAG cochaperone 3 [Gene - OMIM - HGNC]
  • BBIP1:BBSome interacting protein 1 [Gene - OMIM - HGNC]
  • BNIP3:BCL2 interacting protein 3 [Gene - OMIM - HGNC]
  • BORCS7:BLOC-1 related complex subunit 7 [Gene - OMIM - HGNC]
  • BCCIP:BRCA2 and CDKN1A interacting protein [Gene - OMIM - HGNC]
  • BTBD16:BTB domain containing 16 [Gene - HGNC]
  • BUB3:BUB3 mitotic checkpoint protein [Gene - OMIM - HGNC]
  • CTBP2:C-terminal binding protein 2 [Gene - OMIM - HGNC]
  • CACUL1:CDK2 associated cullin domain 1 [Gene - OMIM - HGNC]
  • CUZD1:CUB and zona pellucida like domains 1 [Gene - OMIM - HGNC]
  • CUEDC2:CUE domain containing 2 [Gene - OMIM - HGNC]
  • CWF19L1:CWF19 like cell cycle control factor 1 [Gene - OMIM - HGNC]
  • DHX32:DEAH-box helicase 32 (putative) [Gene - OMIM - HGNC]
  • DENND10:DENN domain containing 10 [Gene - HGNC]
  • DCLRE1A:DNA cross-link repair 1A [Gene - OMIM - HGNC]
  • DNTT:DNA nucleotidylexotransferase [Gene - OMIM - HGNC]
  • POLL:DNA polymerase lambda [Gene - OMIM - HGNC]
  • EBF3:EBF transcription factor 3 [Gene - OMIM - HGNC]
  • EEF1AKMT2:EEF1A lysine methyltransferase 2 [Gene - OMIM - HGNC]
  • ELOVL3:ELOVL fatty acid elongase 3 [Gene - OMIM - HGNC]
  • EMX2OS:EMX2 opposite strand/antisense RNA [Gene - OMIM - HGNC]
  • ERLIN1:ER lipid raft associated 1 [Gene - OMIM - HGNC]
  • FBXW4:F-box and WD repeat domain containing 4 [Gene - OMIM - HGNC]
  • FBXL15:F-box and leucine rich repeat protein 15 [Gene - OMIM - HGNC]
  • FHIP2A:FHF complex subunit HOOK interacting protein 2A [Gene - OMIM - HGNC]
  • FRA10AC1:FRA10A associated CGG repeat 1 [Gene - OMIM - HGNC]
  • FRAT1:FRAT regulator of WNT signaling pathway 1 [Gene - OMIM - HGNC]
  • FRAT2:FRAT regulator of WNT signaling pathway 2 [Gene - OMIM - HGNC]
  • GPR26:G protein-coupled receptor 26 [Gene - OMIM - HGNC]
  • GRK5:G protein-coupled receptor kinase 5 [Gene - OMIM - HGNC]
  • GFRA1:GDNF family receptor alpha 1 [Gene - OMIM - HGNC]
  • HMX2:H6 family homeobox 2 [Gene - OMIM - HGNC]
  • HMX3:H6 family homeobox 3 [Gene - OMIM - HGNC]
  • HPS1:HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [Gene - OMIM - HGNC]
  • HPS6:HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 [Gene - OMIM - HGNC]
  • HTRA1:HtrA serine peptidase 1 [Gene - OMIM - HGNC]
  • IKZF5:IKAROS family zinc finger 5 [Gene - OMIM - HGNC]
  • JAKMIP3:Janus kinase and microtubule interacting protein 3 [Gene - OMIM - HGNC]
  • KAZALD1:Kazal type serine peptidase inhibitor domain 1 [Gene - OMIM - HGNC]
  • LDB1:LIM domain binding 1 [Gene - OMIM - HGNC]
  • MARVELD1:MARVEL domain containing 1 [Gene - OMIM - HGNC]
  • MXI1:MAX interactor 1, dimerization protein [Gene - OMIM - HGNC]
  • MMS19:MMS19 homolog, cytosolic iron-sulfur assembly component [Gene - OMIM - HGNC]
  • MORN4:MORN repeat containing 4 [Gene - OMIM - HGNC]
  • NDUFB8:NADH:ubiquinone oxidoreductase subunit B8 [Gene - OMIM - HGNC]
  • NHLRC2:NHL repeat containing 2 [Gene - OMIM - HGNC]
  • NKX1-2:NK1 homeobox 2 [Gene - HGNC]
  • NKX2-3:NK2 homeobox 3 [Gene - OMIM - HGNC]
  • NKX6-2:NK6 homeobox 2 [Gene - OMIM - HGNC]
  • NOC3L:NOC3 like DNA replication regulator [Gene - OMIM - HGNC]
  • NSMCE4A:NSE4 homolog A, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
  • MGMT:O-6-methylguanine-DNA methyltransferase [Gene - OMIM - HGNC]
  • OGA:O-GlcNAcase [Gene - OMIM - HGNC]
  • PDLIM1:PDZ and LIM domain 1 [Gene - OMIM - HGNC]
  • PDZD7:PDZ domain containing 7 [Gene - OMIM - HGNC]
  • PDZD8:PDZ domain containing 8 [Gene - OMIM - HGNC]
  • PPRC1:PPARG related coactivator 1 [Gene - OMIM - HGNC]
  • PWWP2B:PWWP domain containing 2B [Gene - HGNC]
  • R3HCC1L:R3H domain and coiled-coil containing 1 like [Gene - HGNC]
  • RAB11FIP2:RAB11 family interacting protein 2 [Gene - OMIM - HGNC]
  • RBM20:RNA binding motif protein 20 [Gene - OMIM - HGNC]
  • ARHGAP19:Rho GTPase activating protein 19 [Gene - OMIM - HGNC]
  • SEC23IP:SEC23 interacting protein [Gene - OMIM - HGNC]
  • SEC31B:SEC31 homolog B, COPII coat complex component [Gene - OMIM - HGNC]
  • SH3PXD2A:SH3 and PX domains 2A [Gene - OMIM - HGNC]
  • SHOC2:SHOC2 leucine rich repeat scaffold protein [Gene - OMIM - HGNC]
  • SLF2:SMC5-SMC6 complex localization factor 2 [Gene - OMIM - HGNC]
  • SLK:STE20 like kinase [Gene - OMIM - HGNC]
  • STN1:STN1 subunit of CST complex [Gene - OMIM - HGNC]
  • SUFU:SUFU negative regulator of hedgehog signaling [Gene - OMIM - HGNC]
  • SFR1:SWI5 dependent homologous recombination repair protein 1 [Gene - OMIM - HGNC]
  • TLX1:T cell leukemia homeobox 1 [Gene - OMIM - HGNC]
  • TAF5:TATA-box binding protein associated factor 5 [Gene - OMIM - HGNC]
  • TBC1D12:TBC1 domain family member 12 [Gene - OMIM - HGNC]
  • TCERG1L-AS1:TCERG1L antisense RNA 1 [Gene - HGNC]
  • TIAL1:TIA1 cytotoxic granule associated RNA binding protein like 1 [Gene - OMIM - HGNC]
  • TLX1NB:TLX1 neighbor [Gene - OMIM - HGNC]
  • TRUB1:TruB pseudouridine synthase family member 1 [Gene - OMIM - HGNC]
  • VENTX:VENT homeobox [Gene - OMIM - HGNC]
  • WDR11:WD repeat domain 11 [Gene - OMIM - HGNC]
  • WBP1L:WW domain binding protein 1 like [Gene - OMIM - HGNC]
  • WNT8B:Wnt family member 8B [Gene - OMIM - HGNC]
  • XPNPEP1:X-prolyl aminopeptidase 1 [Gene - OMIM - HGNC]
  • ABRAXAS2:abraxas 2, BRISC complex subunit [Gene - OMIM - HGNC]
  • ABLIM1:actin binding LIM protein 1 [Gene - OMIM - HGNC]
  • AFAP1L2:actin filament associated protein 1 like 2 [Gene - OMIM - HGNC]
  • ACTR1A:actin related protein 1A [Gene - OMIM - HGNC]
  • ACADSB:acyl-CoA dehydrogenase short/branched chain [Gene - OMIM - HGNC]
  • ACSL5:acyl-CoA synthetase long chain family member 5 [Gene - OMIM - HGNC]
  • ACSM6:acyl-CoA synthetase medium chain family member 6 [Gene - HGNC]
  • ADD3:adducin 3 [Gene - OMIM - HGNC]
  • ADGRA1:adhesion G protein-coupled receptor A1 [Gene - OMIM - HGNC]
  • ADRA2A:adrenoceptor alpha 2A [Gene - OMIM - HGNC]
  • ADRB1:adrenoceptor beta 1 [Gene - OMIM - HGNC]
  • ARMS2:age-related maculopathy susceptibility 2 [Gene - OMIM - HGNC]
  • ALDH18A1:aldehyde dehydrogenase 18 family member A1 [Gene - OMIM - HGNC]
  • ANKRD2:ankyrin repeat domain 2 [Gene - OMIM - HGNC]
  • AVPI1:arginine vasopressin induced 1 [Gene - OMIM - HGNC]
  • ATE1:arginyltransferase 1 [Gene - OMIM - HGNC]
  • ARMH3:armadillo like helical domain containing 3 [Gene - HGNC]
  • AS3MT:arsenite methyltransferase [Gene - OMIM - HGNC]
  • ATRNL1:attractin like 1 [Gene - OMIM - HGNC]
  • BTRC:beta-transducin repeat containing E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • BLOC1S2:biogenesis of lysosomal organelles complex 1 subunit 2 [Gene - OMIM - HGNC]
  • CALHM1:calcium homeostasis modulator 1 [Gene - OMIM - HGNC]
  • CALHM3:calcium homeostasis modulator 3 [Gene - OMIM - HGNC]
  • CALHM2:calcium homeostasis modulator family member 2 [Gene - OMIM - HGNC]
  • CALY:calcyon neuron specific vesicular protein [Gene - OMIM - HGNC]
  • CASC2:cancer susceptibility 2 [Gene - OMIM - HGNC]
  • CHST15:carbohydrate sulfotransferase 15 [Gene - OMIM - HGNC]
  • CPN1:carboxypeptidase N subunit 1 [Gene - OMIM - HGNC]
  • CPXM2:carboxypeptidase X, M14 family member 2 [Gene - OMIM - HGNC]
  • CRTAC1:cartilage acidic protein 1 [Gene - OMIM - HGNC]
  • CASP7:caspase 7 [Gene - OMIM - HGNC]
  • CEP55:centrosomal protein 55 [Gene - OMIM - HGNC]
  • C10orf120:chromosome 10 open reading frame 120 [Gene - HGNC]
  • C10orf12:chromosome 10 open reading frame 12 [Gene - HGNC]
  • C10orf131:chromosome 10 open reading frame 131 [Gene - HGNC]
  • C10orf62:chromosome 10 open reading frame 62 [Gene - HGNC]
  • C10orf88:chromosome 10 open reading frame 88 [Gene - OMIM - HGNC]
  • C10orf90:chromosome 10 open reading frame 90 [Gene - OMIM - HGNC]
  • C10orf95:chromosome 10 open reading frame 95 [Gene - HGNC]
  • CFAP43:cilia and flagella associated protein 43 [Gene - OMIM - HGNC]
  • CFAP46:cilia and flagella associated protein 46 [Gene - OMIM - HGNC]
  • CFAP58:cilia and flagella associated protein 58 [Gene - OMIM - HGNC]
  • CLRN3:clarin 3 [Gene - OMIM - HGNC]
  • CC2D2B:coiled-coil and C2 domain containing 2B [Gene - HGNC]
  • CCDC172:coiled-coil domain containing 172 [Gene - HGNC]
  • CCDC186:coiled-coil domain containing 186 [Gene - OMIM - HGNC]
  • COL17A1:collagen type XVII alpha 1 chain [Gene - OMIM - HGNC]
  • CHUK:component of inhibitor of nuclear factor kappa B kinase complex [Gene - OMIM - HGNC]
  • CUTC:cutC copper transporter [Gene - OMIM - HGNC]
  • CCNJ:cyclin J [Gene - OMIM - HGNC]
  • CNNM1:cyclin and CBS domain divalent metal cation transport mediator 1 [Gene - OMIM - HGNC]
  • CNNM2:cyclin and CBS domain divalent metal cation transport mediator 2 [Gene - OMIM - HGNC]
  • CYP17A1:cytochrome P450 family 17 subfamily A member 1 [Gene - OMIM - HGNC]
  • CYP2C18:cytochrome P450 family 2 subfamily C member 18 [Gene - OMIM - HGNC]
  • CYP2C19:cytochrome P450 family 2 subfamily C member 19 [Gene - OMIM - HGNC]
  • CYP2C8:cytochrome P450 family 2 subfamily C member 8 [Gene - OMIM - HGNC]
  • CYP2C9:cytochrome P450 family 2 subfamily C member 9 [Gene - OMIM - HGNC]
  • CYP2E1:cytochrome P450 family 2 subfamily E member 1 [Gene - OMIM - HGNC]
  • COX15:cytochrome c oxidase assembly homolog COX15 [Gene - OMIM - HGNC]
  • DOCK1:dedicator of cytokinesis 1 [Gene - OMIM - HGNC]
  • DMBT1:deleted in malignant brain tumors 1 [Gene - OMIM - HGNC]
  • DPCD:deleted in primary ciliary dyskinesia homolog (mouse) [Gene - OMIM - HGNC]
  • DPYSL4:dihydropyrimidinase like 4 [Gene - OMIM - HGNC]
  • DUSP5:dual specificity phosphatase 5 [Gene - OMIM - HGNC]
  • DNMBP:dynamin binding protein [Gene - OMIM - HGNC]
  • ENTPD1:ectonucleoside triphosphate diphosphohydrolase 1 [Gene - OMIM - HGNC]
  • ENTPD7:ectonucleoside triphosphate diphosphohydrolase 7 [Gene - OMIM - HGNC]
  • EMX2:empty spiracles homeobox 2 [Gene - OMIM - HGNC]
  • ENO4:enolase 4 [Gene - OMIM - HGNC]
  • ECHS1:enoyl-CoA hydratase, short chain 1 [Gene - OMIM - HGNC]
  • EDRF1:erythroid differentiation regulatory factor 1 [Gene - OMIM - HGNC]
  • EIF3A:eukaryotic translation initiation factor 3 subunit A [Gene - OMIM - HGNC]
  • EXOSC1:exosome component 1 [Gene - OMIM - HGNC]
  • FAM204A:family with sequence similarity 204 member A [Gene - HGNC]
  • FAM24A:family with sequence similarity 24 member A [Gene - HGNC]
  • FAM24B:family with sequence similarity 24 member B [Gene - HGNC]
  • FAM53B:family with sequence similarity 53 member B [Gene - OMIM - HGNC]
  • FGF8:fibroblast growth factor 8 [Gene - OMIM - HGNC]
  • FGFR2:fibroblast growth factor receptor 2 [Gene - OMIM - HGNC]
  • FANK1:fibronectin type III and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
  • FOXI2:forkhead box I2 [Gene - OMIM - HGNC]
  • FFAR4:free fatty acid receptor 4 [Gene - OMIM - HGNC]
  • FUOM:fucose mutarotase [Gene - OMIM - HGNC]
  • GOT1:glutamic-oxaloacetic transaminase 1 [Gene - OMIM - HGNC]
  • GLRX3:glutaredoxin 3 [Gene - OMIM - HGNC]
  • GSTO1:glutathione S-transferase omega 1 [Gene - OMIM - HGNC]
  • GSTO2:glutathione S-transferase omega 2 [Gene - OMIM - HGNC]
  • GPAM:glycerol-3-phosphate acyltransferase, mitochondrial [Gene - OMIM - HGNC]
  • GBF1:golgi brefeldin A resistant guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
  • GOLGA7B:golgin A7 family member B [Gene - OMIM - HGNC]
  • HSPA12A:heat shock protein family A (Hsp70) member 12A [Gene - OMIM - HGNC]
  • HELLS:helicase, lymphoid specific [Gene - OMIM - HGNC]
  • HPSE2:heparanase 2 (inactive) [Gene - OMIM - HGNC]
  • HABP2:hyaluronan binding protein 2 [Gene - OMIM - HGNC]
  • HIF1AN:hypoxia inducible factor 1 subunit alpha inhibitor [Gene - OMIM - HGNC]
  • INSYN2A:inhibitory synaptic factor 2A [Gene - OMIM - HGNC]
  • ITPRIP:inositol 1,4,5-trisphosphate receptor interacting protein [Gene - OMIM - HGNC]
  • INPP5A:inositol polyphosphate-5-phosphatase A [Gene - OMIM - HGNC]
  • INPP5F:inositol polyphosphate-5-phosphatase F [Gene - OMIM - HGNC]
  • INA:internexin neuronal intermediate filament protein alpha [Gene - OMIM - HGNC]
  • KNDC1:kinase non-catalytic C-lobe domain containing 1 [Gene - OMIM - HGNC]
  • LBX1:ladybird homeobox 1 [Gene - OMIM - HGNC]
  • LGI1:leucine rich glioma inactivated 1 [Gene - OMIM - HGNC]
  • LRRC27:leucine rich repeat containing 27 [Gene - HGNC]
  • LZTS2:leucine zipper tumor suppressor 2 [Gene - OMIM - HGNC]
  • LCOR:ligand dependent nuclear receptor corepressor [Gene - OMIM - HGNC]
  • LINC01166:long intergenic non-protein coding RNA 1166 [Gene - HGNC]
  • LINC02870:long intergenic non-protein coding RNA 2870 [Gene - HGNC]
  • LOXL4:lysyl oxidase like 4 [Gene - OMIM - HGNC]
  • MFSD13A:major facilitator superfamily domain containing 13A [Gene - OMIM - HGNC]
  • MKI67:marker of proliferation Ki-67 [Gene - OMIM - HGNC]
  • MMP21:matrix metallopeptidase 21 [Gene - OMIM - HGNC]
  • MIR146B:microRNA 146b [Gene - OMIM - HGNC]
  • MCMBP:minichromosome maintenance complex binding protein [Gene - OMIM - HGNC]
  • MRPL43:mitochondrial ribosomal protein L43 [Gene - OMIM - HGNC]
  • MTG1:mitochondrial ribosome associated GTPase 1 [Gene - HGNC]
  • MYOF:myoferlin [Gene - OMIM - HGNC]
  • NANOS1:nanos C2HC-type zinc finger 1 [Gene - OMIM - HGNC]
  • NRAP:nebulin related anchoring protein [Gene - OMIM - HGNC]
  • NEURL1:neuralized E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • NPS:neuropeptide S [Gene - OMIM - HGNC]
  • NFKB2:nuclear factor kappa B subunit 2 [Gene - OMIM - HGNC]
  • NOLC1:nucleolar and coiled-body phosphoprotein 1 [Gene - OMIM - HGNC]
  • NPM3:nucleophosmin/nucleoplasmin 3 [Gene - OMIM - HGNC]
  • OPALIN:oligodendrocytic myelin paranodal and inner loop protein [Gene - OMIM - HGNC]
  • OAT:ornithine aminotransferase [Gene - OMIM - HGNC]
  • PAX2:paired box 2 [Gene - OMIM - HGNC]
  • PITX3:paired like homeodomain 3 [Gene - OMIM - HGNC]
  • PNLIPRP1:pancreatic lipase related protein 1 [Gene - OMIM - HGNC]
  • PNLIPRP2:pancreatic lipase related protein 2 (gene/pseudogene) [Gene - OMIM - HGNC]
  • PNLIPRP3:pancreatic lipase related protein 3 [Gene - HGNC]
  • PNLIP:pancreatic lipase [Gene - OMIM - HGNC]
  • PRDX3:peroxiredoxin 3 [Gene - OMIM - HGNC]
  • PI4K2A:phosphatidylinositol 4-kinase type 2 alpha [Gene - OMIM - HGNC]
  • PDE6C:phosphodiesterase 6C [Gene - OMIM - HGNC]
  • PGAM1:phosphoglycerate mutase 1 [Gene - OMIM - HGNC]
  • PIK3AP1:phosphoinositide-3-kinase adaptor protein 1 [Gene - OMIM - HGNC]
  • PLCE1:phospholipase C epsilon 1 [Gene - OMIM - HGNC]
  • PLPP4:phospholipid phosphatase 4 [Gene - HGNC]
  • LHPP:phospholysine phosphohistidine inorganic pyrophosphate phosphatase [Gene - OMIM - HGNC]
  • PSTK:phosphoseryl-tRNA kinase [Gene - OMIM - HGNC]
  • PSD:pleckstrin and Sec7 domain containing [Gene - OMIM - HGNC]
  • PLEKHA1:pleckstrin homology domain containing A1 [Gene - OMIM - HGNC]
  • PLEKHS1:pleckstrin homology domain containing S1 [Gene - HGNC]
  • PAOX:polyamine oxidase [Gene - OMIM - HGNC]
  • PCGF6:polycomb group ring finger 6 [Gene - OMIM - HGNC]
  • PKD2L1:polycystin 2 like 1, transient receptor potential cation channel [Gene - OMIM - HGNC]
  • KCNK18:potassium two pore domain channel subfamily K member 18 [Gene - OMIM - HGNC]
  • KCNIP2:potassium voltage-gated channel interacting protein 2 [Gene - OMIM - HGNC]
  • PDCD11:programmed cell death 11 [Gene - OMIM - HGNC]
  • PDCD4:programmed cell death 4 [Gene - OMIM - HGNC]
  • PRLHR:prolactin releasing hormone receptor [Gene - OMIM - HGNC]
  • PRAP1:proline rich acidic protein 1 [Gene - OMIM - HGNC]
  • PPP2R2D:protein phosphatase 2 regulatory subunit Bdelta [Gene - OMIM - HGNC]
  • PTPRE:protein tyrosine phosphatase receptor type E [Gene - OMIM - HGNC]
  • PYROXD2:pyridine nucleotide-disulphide oxidoreductase domain 2 [Gene - OMIM - HGNC]
  • RGS10:regulator of G protein signaling 10 [Gene - OMIM - HGNC]
  • RBP4:retinol binding protein 4 [Gene - OMIM - HGNC]
  • RRP12:ribosomal RNA processing 12 homolog [Gene - OMIM - HGNC]
  • SFRP5:secreted frizzled related protein 5 [Gene - OMIM - HGNC]
  • SEMA4G:semaphorin 4G [Gene - OMIM - HGNC]
  • STK32C:serine/threonine kinase 32C [Gene - HGNC]
  • SPRN:shadow of prion protein [Gene - OMIM - HGNC]
  • SHTN1:shootin 1 [Gene - OMIM - HGNC]
  • SFXN2:sideroflexin 2 [Gene - OMIM - HGNC]
  • SFXN3:sideroflexin 3 [Gene - OMIM - HGNC]
  • SFXN4:sideroflexin 4 [Gene - OMIM - HGNC]
  • SLIT1:slit guidance ligand 1 [Gene - OMIM - HGNC]
  • SNORA12:small nucleolar RNA, H/ACA box 12 [Gene - OMIM - HGNC]
  • SLC18A2:solute carrier family 18 member A2 [Gene - OMIM - HGNC]
  • SLC25A28:solute carrier family 25 member 28 [Gene - OMIM - HGNC]
  • SLC35G1:solute carrier family 35 member G1 [Gene - OMIM - HGNC]
  • SORBS1:sorbin and SH3 domain containing 1 [Gene - OMIM - HGNC]
  • SORCS1:sortilin related VPS10 domain containing receptor 1 [Gene - OMIM - HGNC]
  • SORCS3:sortilin related VPS10 domain containing receptor 3 [Gene - OMIM - HGNC]
  • SPMIP5:sperm microtubule inner protein 5 [Gene - HGNC]
  • SCD:stearoyl-CoA desaturase [Gene - OMIM - HGNC]
  • SMC3:structural maintenance of chromosomes 3 [Gene - OMIM - HGNC]
  • SMNDC1:survival motor neuron domain containing 1 [Gene - OMIM - HGNC]
  • SYCE1:synaptonemal complex central element protein 1 [Gene - OMIM - HGNC]
  • TCTN3:tectonic family member 3 [Gene - OMIM - HGNC]
  • TECTB:tectorin beta [Gene - OMIM - HGNC]
  • TEX36:testis expressed 36 [Gene - HGNC]
  • TLL2:tolloid like 2 [Gene - OMIM - HGNC]
  • TCERG1L:transcription elongation regulator 1 like [Gene - OMIM - HGNC]
  • TCF7L2:transcription factor 7 like 2 [Gene - OMIM - HGNC]
  • TACC2:transforming acidic coiled-coil containing protein 2 [Gene - OMIM - HGNC]
  • TM9SF3:transmembrane 9 superfamily member 3 [Gene - OMIM - HGNC]
  • TRIM8:tripartite motif containing 8 [Gene - OMIM - HGNC]
  • TUBGCP2:tubulin gamma complex component 2 [Gene - OMIM - HGNC]
  • TDRD1:tudor domain containing 1 [Gene - OMIM - HGNC]
  • TWNK:twinkle mtDNA helicase [Gene - OMIM - HGNC]
  • UBTD1:ubiquitin domain containing 1 [Gene - OMIM - HGNC]
  • UTF1:undifferentiated embryonic cell transcription factor 1 [Gene - OMIM - HGNC]
  • UROS:uroporphyrinogen III synthase [Gene - OMIM - HGNC]
  • VAX1:ventral anterior homeobox 1 [Gene - OMIM - HGNC]
  • VTI1A:vesicle transport through interaction with t-SNAREs 1A [Gene - OMIM - HGNC]
  • VWA2:von Willebrand factor A domain containing 2 [Gene - OMIM - HGNC]
  • ZDHHC16:zinc finger DHHC-type palmitoyltransferase 16 [Gene - OMIM - HGNC]
  • ZDHHC6:zinc finger DHHC-type palmitoyltransferase 6 [Gene - OMIM - HGNC]
  • ZFYVE27:zinc finger FYVE-type containing 27 [Gene - OMIM - HGNC]
  • ZRANB1:zinc finger RANBP2-type containing 1 [Gene - OMIM - HGNC]
  • ZNF511:zinc finger protein 511 [Gene - HGNC]
  • ZNF518A:zinc finger protein 518A [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
10q23.33-26.3
Genomic location:
Chr10: 95078198 - 135427143 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    AllHighlyPenetrant
    Identifiers:
    MedGen: CN169374

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004803022ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
    criteria provided, single submitter

    (Constitutional Copy Number Variant Assertion Criteria)    		Pathogenicgermlineclinical testing

    Citation Link

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    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknown1not providednot providednot providednot providedclinical testing

    Details of each submission

    From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV004803022.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot provided1not providednot providednot provided

    Last Updated: Mar 30, 2024