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GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 20, 2016
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:
RCV000240457.2

Allele description [Variation Report for GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3]

GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3

Genes:
  • 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]
  • ATP5MK:ATP synthase membrane subunit k [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]
  • 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]
  • 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]
  • 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]
  • FRG2B:FSHD region gene 2 family member B [Gene - 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]
  • 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]
  • LDB1:LIM domain binding 1 [Gene - OMIM - HGNC]
  • MXI1:MAX interactor 1, dimerization protein [Gene - OMIM - HGNC]
  • NHLRC2:NHL repeat containing 2 [Gene - OMIM - HGNC]
  • NKX1-2:NK1 homeobox 2 [Gene - HGNC]
  • NKX6-2:NK6 homeobox 2 [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]
  • PDZD8:PDZ domain containing 8 [Gene - OMIM - HGNC]
  • PPRC1:PPARG related coactivator 1 [Gene - OMIM - HGNC]
  • PWWP2B:PWWP domain containing 2B [Gene - HGNC]
  • RAB11FIP2:RAB11 family interacting protein 2 [Gene - OMIM - HGNC]
  • RBM20:RNA binding motif protein 20 [Gene - OMIM - HGNC]
  • SEC23IP:SEC23 interacting protein [Gene - OMIM - HGNC]
  • SH3PXD2A:SH3 and PX domains 2A [Gene - OMIM - HGNC]
  • SHOC2:SHOC2 leucine rich repeat scaffold protein [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]
  • TAF5:TATA-box binding protein associated factor 5 [Gene - OMIM - HGNC]
  • TCERG1L-AS1:TCERG1L antisense RNA 1 [Gene - HGNC]
  • TIAL1:TIA1 cytotoxic granule associated RNA binding protein like 1 [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]
  • 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]
  • 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]
  • 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]
  • 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]
  • CPXM2:carboxypeptidase X, M14 family member 2 [Gene - OMIM - HGNC]
  • CASP7:caspase 7 [Gene - OMIM - HGNC]
  • C10orf120:chromosome 10 open reading frame 120 [Gene - HGNC]
  • C10orf82:chromosome 10 open reading frame 82 [Gene - HGNC]
  • C10orf88:chromosome 10 open reading frame 88 [Gene - 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]
  • 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]
  • 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]
  • CYP2E1:cytochrome P450 family 2 subfamily E member 1 [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]
  • 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 - HGNC]
  • EIF3A:eukaryotic translation initiation factor 3 subunit A [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]
  • FUOM:fucose mutarotase [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]
  • HSPA12A:heat shock protein family A (Hsp70) member 12A [Gene - OMIM - HGNC]
  • HABP2:hyaluronan binding protein 2 [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]
  • LRRC27:leucine rich repeat containing 27 [Gene - HGNC]
  • LINC01166:long intergenic non-protein coding RNA 1166 [Gene - HGNC]
  • LINC02870:long intergenic non-protein coding RNA 2870 [Gene - 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]
  • MTG1:mitochondrial ribosome associated GTPase 1 [Gene - 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]
  • OAT:ornithine aminotransferase [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]
  • 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]
  • 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]
  • RGS10:regulator of G protein signaling 10 [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]
  • SFXN4:sideroflexin 4 [Gene - OMIM - HGNC]
  • SLC18A2:solute carrier family 18 member A2 [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]
  • 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]
  • TECTB:tectorin beta [Gene - OMIM - HGNC]
  • TEX36:testis expressed 36 [Gene - HGNC]
  • TCERG1L:transcription elongation regulator 1 like [Gene - HGNC]
  • TCF7L2:transcription factor 7 like 2 [Gene - OMIM - HGNC]
  • TACC2:transforming acidic coiled-coil containing protein 2 [Gene - OMIM - HGNC]
  • TRIM8:tripartite motif containing 8 [Gene - OMIM - HGNC]
  • TUBGCP2:tubulin gamma complex associated protein 2 [Gene - OMIM - HGNC]
  • TDRD1:tudor 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]
  • ZDHHC6:zinc finger DHHC-type palmitoyltransferase 6 [Gene - OMIM - HGNC]
  • ZRANB1:zinc finger RANBP2-type containing 1 [Gene - OMIM - HGNC]
  • ZNF511:zinc finger protein 511 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
10q24.32-26.3
Genomic location:
Chr10: 103288313 - 135512075 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)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
    SCV000298423GeneDx
    criteria provided, single submitter

    (GeneDx Variant Classification (06012015))    		Pathogenic
    (Jan 20, 2016)     		unknownclinical testing

    Citation Link

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    Summary from all submissions

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

    Details of each submission

    From GeneDx, SCV000298423.3

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

    Last Updated: Mar 26, 2023