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GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 AND See cases

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

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Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000448569.1

Allele description [Variation Report for GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3]

GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3

Genes:
  • HACD4:3-hydroxyacyl-CoA dehydratase 4 [Gene - OMIM - HGNC]
  • ADAMTSL1:ADAMTS like 1 [Gene - OMIM - HGNC]
  • ARID3C:AT-rich interaction domain 3C [Gene - HGNC]
  • BAG1:BAG cochaperone 1 [Gene - OMIM - HGNC]
  • CCL19:C-C motif chemokine ligand 19 [Gene - OMIM - HGNC]
  • CCL21:C-C motif chemokine ligand 21 [Gene - OMIM - HGNC]
  • CCL27:C-C motif chemokine ligand 27 [Gene - OMIM - HGNC]
  • C9orf72:C9orf72-SMCR8 complex subunit [Gene - OMIM - HGNC]
  • CD274:CD274 molecule [Gene - OMIM - HGNC]
  • CD72:CD72 molecule [Gene - OMIM - HGNC]
  • CDKN2B-AS1:CDKN2B antisense RNA 1 [Gene - OMIM - HGNC]
  • CBWD7:COBW domain containing 7 [Gene - HGNC]
  • DCAF10:DDB1 and CUL4 associated factor 10 [Gene - HGNC]
  • DCAF12:DDB1 and CUL4 associated factor 12 [Gene - HGNC]
  • DENND4C:DENN domain containing 4C [Gene - HGNC]
  • DDX58:DExD/H-box helicase 58 [Gene - OMIM - HGNC]
  • DMRTA1:DMRT like family A1 [Gene - OMIM - HGNC]
  • DOCK8-AS1:DOCK8 antisense RNA 1 [Gene - HGNC]
  • DNAJA1:DnaJ heat shock protein family (Hsp40) member A1 [Gene - OMIM - HGNC]
  • DNAJB5:DnaJ heat shock protein family (Hsp40) member B5 [Gene - OMIM - HGNC]
  • ELAVL2:ELAV like RNA binding protein 2 [Gene - OMIM - HGNC]
  • FBXO10:F-box protein 10 [Gene - OMIM - HGNC]
  • FANCG:FA complementation group G [Gene - OMIM - HGNC]
  • FRMPD1:FERM and PDZ domain containing 1 [Gene - OMIM - HGNC]
  • FREM1:FRAS1 related extracellular matrix 1 [Gene - OMIM - HGNC]
  • GLIPR2:GLI pathogenesis related 2 [Gene - OMIM - HGNC]
  • GLIS3:GLIS family zinc finger 3 [Gene - OMIM - HGNC]
  • HAUS6:HAUS augmin like complex subunit 6 [Gene - OMIM - HGNC]
  • IZUMO3:IZUMO family member 3 [Gene - HGNC]
  • JAK2:Janus kinase 2 [Gene - OMIM - HGNC]
  • KIAA2026:KIAA2026 [Gene - HGNC]
  • KANK1:KN motif and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
  • MLLT3:MLLT3 super elongation complex subunit [Gene - OMIM - HGNC]
  • MOB3B:MOB kinase activator 3B [Gene - OMIM - HGNC]
  • NDUFB6:NADH:ubiquinone oxidoreductase subunit B6 [Gene - OMIM - HGNC]
  • PSIP1:PC4 and SFRS1 interacting protein 1 [Gene - OMIM - HGNC]
  • PHF24:PHD finger protein 24 [Gene - HGNC]
  • RANBP6:RAN binding protein 6 [Gene - HGNC]
  • RGP1:RGP1 homolog, RAB6A GEF complex partner 1 [Gene - OMIM - HGNC]
  • RIC1:RIC1 homolog, RAB6A GEF complex partner 1 [Gene - OMIM - HGNC]
  • RMRP:RNA component of mitochondrial RNA processing endoribonuclease [Gene - OMIM - HGNC]
  • POLR1E:RNA polymerase I subunit E [Gene - HGNC]
  • RCL1:RNA terminal phosphate cyclase like 1 [Gene - OMIM - HGNC]
  • RUSC2:RUN and SH3 domain containing 2 [Gene - OMIM - HGNC]
  • RRAGA:Ras related GTP binding A [Gene - OMIM - HGNC]
  • ARHGEF39:Rho guanine nucleotide exchange factor 39 [Gene - HGNC]
  • SHB:SH2 domain containing adaptor protein B [Gene - OMIM - HGNC]
  • SH3GL2:SH3 domain containing GRB2 like 2, endophilin A1 [Gene - OMIM - HGNC]
  • SMU1:SMU1 DNA replication regulator and spliceosomal factor [Gene - OMIM - HGNC]
  • SPATA31A1:SPATA31 subfamily A member 1 [Gene - HGNC]
  • SPATA31A3:SPATA31 subfamily A member 3 [Gene - HGNC]
  • SPATA31A5:SPATA31 subfamily A member 5 [Gene - HGNC]
  • SPATA31A6:SPATA31 subfamily A member 6 [Gene - HGNC]
  • SPATA31A7:SPATA31 subfamily A member 7 [Gene - OMIM - HGNC]
  • SMARCA2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 [Gene - OMIM - HGNC]
  • TAF1L:TATA-box binding protein associated factor 1 like [Gene - OMIM - HGNC]
  • TEK:TEK receptor tyrosine kinase [Gene - OMIM - HGNC]
  • TOPORS:TOP1 binding arginine/serine rich protein [Gene - OMIM - HGNC]
  • TPD52L3:TPD52 like 3 [Gene - OMIM - HGNC]
  • ACO1:aconitase 1 [Gene - OMIM - HGNC]
  • AK3:adenylate kinase 3 [Gene - OMIM - HGNC]
  • ALDH1B1:aldehyde dehydrogenase 1 family member B1 [Gene - OMIM - HGNC]
  • ACER2:alkaline ceramidase 2 [Gene - OMIM - HGNC]
  • ANKRD18A:ankyrin repeat domain 18A [Gene - HGNC]
  • ANKRD18B:ankyrin repeat domain 18B [Gene - HGNC]
  • ANKRD20A1:ankyrin repeat domain 20 family member A1 [Gene - HGNC]
  • APTX:aprataxin [Gene - OMIM - HGNC]
  • AQP3:aquaporin 3 (Gill blood group) [Gene - OMIM - HGNC]
  • AQP7:aquaporin 7 [Gene - OMIM - HGNC]
  • BNC2:basonuclin 2 [Gene - OMIM - HGNC]
  • B4GALT1:beta-1,4-galactosyltransferase 1 [Gene - OMIM - HGNC]
  • CREB3:cAMP responsive element binding protein 3 [Gene - OMIM - HGNC]
  • CCIN:calicin [Gene - OMIM - HGNC]
  • CA9:carbonic anhydrase 9 [Gene - OMIM - HGNC]
  • CAAP1:caspase activity and apoptosis inhibitor 1 [Gene - HGNC]
  • CDC37L1:cell division cycle 37 like 1 [Gene - OMIM - HGNC]
  • CNTLN:centlein [Gene - OMIM - HGNC]
  • CER1:cerberus 1, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • CHMP5:charged multivesicular body protein 5 [Gene - OMIM - HGNC]
  • C9orf131:chromosome 9 open reading frame 131 [Gene - HGNC]
  • C9orf24:chromosome 9 open reading frame 24 [Gene - HGNC]
  • CNTFR:ciliary neurotrophic factor receptor [Gene - OMIM - HGNC]
  • CLTA:clathrin light chain A [Gene - OMIM - HGNC]
  • CCDC107:coiled-coil domain containing 107 [Gene - HGNC]
  • CCDC171:coiled-coil domain containing 171 [Gene - HGNC]
  • CNTNAP3:contactin associated protein family member 3 [Gene - OMIM - HGNC]
  • CNTNAP3B:contactin associated protein family member 3B [Gene - HGNC]
  • CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]
  • CDKN2B:cyclin dependent kinase inhibitor 2B [Gene - OMIM - HGNC]
  • DOCK8:dedicator of cytokinesis 8 [Gene - OMIM - HGNC]
  • DMAC1:distal membrane arm assembly complex 1 [Gene - OMIM - HGNC]
  • DMRT1:doublesex and mab-3 related transcription factor 1 [Gene - OMIM - HGNC]
  • DMRT2:doublesex and mab-3 related transcription factor 2 [Gene - OMIM - HGNC]
  • DMRT3:doublesex and mab-3 related transcription factor 3 [Gene - OMIM - HGNC]
  • DCTN3:dynactin subunit 3 [Gene - OMIM - HGNC]
  • DNAI1:dynein axonemal intermediate chain 1 [Gene - OMIM - HGNC]
  • ERMP1:endoplasmic reticulum metallopeptidase 1 [Gene - OMIM - HGNC]
  • ENHO:energy homeostasis associated [Gene - OMIM - HGNC]
  • EQTN:equatorin [Gene - OMIM - HGNC]
  • EXOSC3:exosome component 3 [Gene - OMIM - HGNC]
  • FAM166B:family with sequence similarity 166 member B [Gene - HGNC]
  • FAM205A:family with sequence similarity 205 member A [Gene - HGNC]
  • FAM214B:family with sequence similarity 214 member B [Gene - HGNC]
  • FAM219A:family with sequence similarity 219 member A [Gene - HGNC]
  • FAM221B:family with sequence similarity 221 member B [Gene - HGNC]
  • FAM27D1:family with sequence similarity 27 member D1 [Gene - HGNC]
  • FOCAD:focadhesin [Gene - OMIM - HGNC]
  • GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
  • GNE:glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [Gene - OMIM - HGNC]
  • GBA2:glucosylceramidase beta 2 [Gene - OMIM - HGNC]
  • GLDC:glycine decarboxylase [Gene - OMIM - HGNC]
  • GRHPR:glyoxylate and hydroxypyruvate reductase [Gene - OMIM - HGNC]
  • HRCT1:histidine rich carboxyl terminus 1 [Gene - HGNC]
  • HINT2:histidine triad nucleotide binding protein 2 [Gene - OMIM - HGNC]
  • INSL4:insulin like 4 [Gene - OMIM - HGNC]
  • INSL6:insulin like 6 [Gene - OMIM - HGNC]
  • IGFBPL1:insulin like growth factor binding protein like 1 [Gene - OMIM - HGNC]
  • IFNA10:interferon alpha 10 [Gene - OMIM - HGNC]
  • IFNA13:interferon alpha 13 [Gene - OMIM - HGNC]
  • IFNA14:interferon alpha 14 [Gene - OMIM - HGNC]
  • IFNA16:interferon alpha 16 [Gene - OMIM - HGNC]
  • IFNA17:interferon alpha 17 [Gene - OMIM - HGNC]
  • IFNA1:interferon alpha 1 [Gene - OMIM - HGNC]
  • IFNA21:interferon alpha 21 [Gene - OMIM - HGNC]
  • IFNA2:interferon alpha 2 [Gene - OMIM - HGNC]
  • IFNA4:interferon alpha 4 [Gene - OMIM - HGNC]
  • IFNA5:interferon alpha 5 [Gene - OMIM - HGNC]
  • IFNA6:interferon alpha 6 [Gene - OMIM - HGNC]
  • IFNA7:interferon alpha 7 [Gene - OMIM - HGNC]
  • IFNA8:interferon alpha 8 [Gene - OMIM - HGNC]
  • IFNB1:interferon beta 1 [Gene - OMIM - HGNC]
  • IFNE:interferon epsilon [Gene - OMIM - HGNC]
  • IFNW1:interferon omega 1 [Gene - OMIM - HGNC]
  • IL11RA:interleukin 11 receptor subunit alpha [Gene - OMIM - HGNC]
  • IL33:interleukin 33 [Gene - OMIM - HGNC]
  • IFT74:intraflagellar transport 74 [Gene - OMIM - HGNC]
  • KLHL9:kelch like family member 9 [Gene - OMIM - HGNC]
  • KIF24:kinesin family member 24 [Gene - OMIM - HGNC]
  • LURAP1L:leucine rich adaptor protein 1 like [Gene - OMIM - HGNC]
  • LINGO2:leucine rich repeat and Ig domain containing 2 [Gene - OMIM - HGNC]
  • LRRC19:leucine rich repeat containing 19 [Gene - HGNC]
  • LINC00537:long intergenic non-protein coding RNA 537 [Gene - HGNC]
  • KDM4C:lysine demethylase 4C [Gene - OMIM - HGNC]
  • MELK:maternal embryonic leucine zipper kinase [Gene - OMIM - HGNC]
  • MLANA:melan-A [Gene - OMIM - HGNC]
  • MTAP:methylthioadenosine phosphorylase [Gene - OMIM - HGNC]
  • MIR101-2:microRNA 101-2 [Gene - OMIM - HGNC]
  • MIR31:microRNA 31 [Gene - OMIM - HGNC]
  • MSMP:microseminoprotein, prostate associated [Gene - OMIM - HGNC]
  • MPDZ:multiple PDZ domain crumbs cell polarity complex component [Gene - OMIM - HGNC]
  • MYORG:myogenesis regulating glycosidase (putative) [Gene - OMIM - HGNC]
  • NPR2:natriuretic peptide receptor 2 [Gene - OMIM - HGNC]
  • NFIB:nuclear factor I B [Gene - OMIM - HGNC]
  • NFX1:nuclear transcription factor, X-box binding 1 [Gene - OMIM - HGNC]
  • NOL6:nucleolar protein 6 [Gene - OMIM - HGNC]
  • NUDT2:nudix hydrolase 2 [Gene - OMIM - HGNC]
  • OR13J1:olfactory receptor family 13 subfamily J member 1 [Gene - HGNC]
  • OR2S2:olfactory receptor family 2 subfamily S member 2 (gene/pseudogene) [Gene - HGNC]
  • PAX5:paired box 5 [Gene - OMIM - HGNC]
  • PLIN2:perilipin 2 [Gene - OMIM - HGNC]
  • PIGO:phosphatidylinositol glycan anchor biosynthesis class O [Gene - OMIM - HGNC]
  • PLAA:phospholipase A2 activating protein [Gene - OMIM - HGNC]
  • PLPP6:phospholipid phosphatase 6 [Gene - OMIM - HGNC]
  • PLGRKT:plasminogen receptor with a C-terminal lysine [Gene - OMIM - HGNC]
  • KCNV2:potassium voltage-gated channel modifier subfamily V member 2 [Gene - OMIM - HGNC]
  • PDCD1LG2:programmed cell death 1 ligand 2 [Gene - OMIM - HGNC]
  • PTPRD:protein tyrosine phosphatase receptor type D [Gene - OMIM - HGNC]
  • PUM3:pumilio RNA binding family member 3 [Gene - OMIM - HGNC]
  • RFX3:regulatory factor X3 [Gene - OMIM - HGNC]
  • RLN1:relaxin 1 [Gene - OMIM - HGNC]
  • RLN2:relaxin 2 [Gene - OMIM - HGNC]
  • RECK:reversion inducing cysteine rich protein with kazal motifs [Gene - OMIM - HGNC]
  • RPP25L:ribonuclease P/MRP subunit p25 like [Gene - HGNC]
  • RPS6:ribosomal protein S6 [Gene - OMIM - HGNC]
  • RNF38:ring finger protein 38 [Gene - OMIM - HGNC]
  • SPINK4:serine peptidase inhibitor Kazal type 4 [Gene - OMIM - HGNC]
  • PRSS3:serine protease 3 [Gene - OMIM - HGNC]
  • SIGMAR1:sigma non-opioid intracellular receptor 1 [Gene - OMIM - HGNC]
  • SIT1:signaling threshold regulating transmembrane adaptor 1 [Gene - OMIM - HGNC]
  • SNAPC3:small nuclear RNA activating complex polypeptide 3 [Gene - OMIM - HGNC]
  • SLC1A1:solute carrier family 1 member 1 [Gene - OMIM - HGNC]
  • SLC24A2:solute carrier family 24 member 2 [Gene - OMIM - HGNC]
  • SLC25A51:solute carrier family 25 member 51 [Gene - HGNC]
  • SPAG8:sperm associated antigen 8 [Gene - OMIM - HGNC]
  • SPATA6L:spermatogenesis associated 6 like [Gene - HGNC]
  • SAXO1:stabilizer of axonemal microtubules 1 [Gene - OMIM - HGNC]
  • STOML2:stomatin like 2 [Gene - OMIM - HGNC]
  • TRMT10B:tRNA methyltransferase 10B [Gene - HGNC]
  • TLN1:talin 1 [Gene - OMIM - HGNC]
  • TESK1:testis associated actin remodelling kinase 1 [Gene - OMIM - HGNC]
  • TTC39B:tetratricopeptide repeat domain 39B [Gene - OMIM - HGNC]
  • TOMM5:translocase of outer mitochondrial membrane 5 [Gene - OMIM - HGNC]
  • TMEM215:transmembrane protein 215 [Gene - HGNC]
  • TMEM8B:transmembrane protein 8B [Gene - OMIM - HGNC]
  • TPM2:tropomyosin 2 [Gene - OMIM - HGNC]
  • TUSC1:tumor suppressor candidate 1 [Gene - OMIM - HGNC]
  • TYRP1:tyrosinase related protein 1 [Gene - OMIM - HGNC]
  • UBAP1:ubiquitin associated protein 1 [Gene - OMIM - HGNC]
  • UBAP2:ubiquitin associated protein 2 [Gene - HGNC]
  • UBE2R2:ubiquitin conjugating enzyme E2 R2 [Gene - OMIM - HGNC]
  • UHRF2:ubiquitin like with PHD and ring finger domains 2 [Gene - OMIM - HGNC]
  • UNC13B:unc-13 homolog B [Gene - OMIM - HGNC]
  • VCP:valosin containing protein [Gene - OMIM - HGNC]
  • VLDLR:very low density lipoprotein receptor [Gene - OMIM - HGNC]
  • ZCCHC7:zinc finger CCHC-type containing 7 [Gene - HGNC]
  • ZDHHC21:zinc finger DHHC-type palmitoyltransferase 21 [Gene - OMIM - HGNC]
  • ZBTB5:zinc finger and BTB domain containing 5 [Gene - OMIM - HGNC]
  • ZNF658:zinc finger protein 658 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
9p24.3-q21.11
Genomic location:
Chr9: 203861 - 69002883 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3
HGVS:
    Links:
    dbVar: nssv13646873; dbVar: nssv13651922; dbVar: nsv2773768
    Observations:
    2

    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
    SCV000502082ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratoriesno assertion criteria providedPathogenicnot providedclinical testing

    Summary from all submissions

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    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providednot providedyes2not providednot providednot providednot providedclinical testing

    Details of each submission

    From ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories, SCV000502082.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    2not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1not providedyesnot providednot providedDiscovery1not providednot providednot provided
    2not providedyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: Nov 28, 2019

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