GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 AND See cases

Clinical significance:Pathogenic

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000446747.1

Allele description [Variation Report for GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1]

GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1

Genes:
  • HTR2A:5-hydroxytryptamine receptor 2A [Gene - OMIM - HGNC]
  • AKAP11:A-kinase anchoring protein 11 [Gene - OMIM - HGNC]
  • ARL11:ADP ribosylation factor like GTPase 11 [Gene - OMIM - HGNC]
  • ALG11:ALG11 alpha-1,2-mannosyltransferase [Gene - OMIM - HGNC]
  • ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
  • ATXN8OS:ATXN8 opposite strand lncRNA [Gene - OMIM - HGNC]
  • BORA:BORA aurora kinase A activator [Gene - OMIM - HGNC]
  • CLN5:CLN5 intracellular trafficking protein [Gene - OMIM - HGNC]
  • COMMD6:COMM domain containing 6 [Gene - OMIM - HGNC]
  • DIS3:DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease [Gene - OMIM - HGNC]
  • DNAJC15:DnaJ heat shock protein family (Hsp40) member C15 [Gene - OMIM - HGNC]
  • EBPL:EBP like [Gene - OMIM - HGNC]
  • FBXL3:F-box and leucine rich repeat protein 3 [Gene - OMIM - HGNC]
  • GPALPP1:GPALPP motifs containing 1 [Gene - HGNC]
  • KLF12:Kruppel like factor 12 [Gene - OMIM - HGNC]
  • KLF5:Kruppel like factor 5 [Gene - OMIM - HGNC]
  • LMO7:LIM domain 7 [Gene - OMIM - HGNC]
  • LMO7DN:LMO7 downstream neighbor [Gene - HGNC]
  • MIR4500HG:MIR4500 host gene [Gene - HGNC]
  • MYCBP2:MYC binding protein 2 [Gene - OMIM - HGNC]
  • NEK3:NIMA related kinase 3 [Gene - OMIM - HGNC]
  • NEK5:NIMA related kinase 5 [Gene - OMIM - HGNC]
  • NDFIP2:Nedd4 family interacting protein 2 [Gene - OMIM - HGNC]
  • OBI1:ORC ubiquitin ligase 1 [Gene - OMIM - HGNC]
  • PHF11:PHD finger protein 11 [Gene - OMIM - HGNC]
  • POU4F1:POU class 4 homeobox 1 [Gene - OMIM - HGNC]
  • RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
  • RCBTB1:RCC1 and BTB domain containing protein 1 [Gene - OMIM - HGNC]
  • RCBTB2:RCC1 and BTB domain containing protein 2 [Gene - OMIM - HGNC]
  • RBM26:RNA binding motif protein 26 [Gene - HGNC]
  • SETDB2:SET domain bifurcated histone lysine methyltransferase 2 [Gene - OMIM - HGNC]
  • SUGT1:SGT1 homolog, MIS12 kinetochore complex assembly cochaperone [Gene - OMIM - HGNC]
  • SLAIN1:SLAIN motif family member 1 [Gene - OMIM - HGNC]
  • SLC25A30-AS1:SLC25A30 antisense RNA 1 [Gene - HGNC]
  • SLITRK1:SLIT and NTRK like family member 1 [Gene - OMIM - HGNC]
  • SLITRK5:SLIT and NTRK like family member 5 [Gene - OMIM - HGNC]
  • SLITRK6:SLIT and NTRK like family member 6 [Gene - OMIM - HGNC]
  • SPRYD7:SPRY domain containing 7 [Gene - OMIM - HGNC]
  • TBC1D4:TBC1 domain family member 4 [Gene - OMIM - HGNC]
  • TNFSF11:TNF superfamily member 11 [Gene - OMIM - HGNC]
  • TSC22D1:TSC22 domain family member 1 [Gene - OMIM - HGNC]
  • UTP14C:UTP14C small subunit processome component [Gene - OMIM - HGNC]
  • WDFY2:WD repeat and FYVE domain containing 2 [Gene - OMIM - HGNC]
  • ACOD1:aconitate decarboxylase 1 [Gene - OMIM - HGNC]
  • CAB39L:calcium binding protein 39 like [Gene - OMIM - HGNC]
  • CPB2:carboxypeptidase B2 [Gene - OMIM - HGNC]
  • CBY2:chibby family member 2 [Gene - OMIM - HGNC]
  • CNMD:chondromodulin [Gene - OMIM - HGNC]
  • CCDC122:coiled-coil domain containing 122 [Gene - OMIM - HGNC]
  • CCDC70:coiled-coil domain containing 70 [Gene - HGNC]
  • COG3:component of oligomeric golgi complex 3 [Gene - OMIM - HGNC]
  • CYSLTR2:cysteinyl leukotriene receptor 2 [Gene - OMIM - HGNC]
  • CDADC1:cytidine and dCMP deaminase domain containing 1 [Gene - HGNC]
  • CKAP2:cytoskeleton associated protein 2 [Gene - OMIM - HGNC]
  • DACH1:dachshund family transcription factor 1 [Gene - OMIM - HGNC]
  • DHRS12:dehydrogenase/reductase 12 [Gene - OMIM - HGNC]
  • DLEU1:deleted in lymphocytic leukemia 1 [Gene - OMIM - HGNC]
  • DLEU2:deleted in lymphocytic leukemia 2 [Gene - OMIM - HGNC]
  • DLEU7:deleted in lymphocytic leukemia 7 [Gene - OMIM - HGNC]
  • DGKH:diacylglycerol kinase eta [Gene - OMIM - HGNC]
  • DIAPH3:diaphanous related formin 3 [Gene - OMIM - HGNC]
  • ENOX1:ecto-NOX disulfide-thiol exchanger 1 [Gene - OMIM - HGNC]
  • EDNRB:endothelin receptor type B [Gene - OMIM - HGNC]
  • EPSTI1:epithelial stromal interaction 1 [Gene - OMIM - HGNC]
  • ESD:esterase D [Gene - OMIM - HGNC]
  • FAM124A:family with sequence similarity 124 member A [Gene - HGNC]
  • FAM216B:family with sequence similarity 216 member B [Gene - HGNC]
  • FNDC3A:fibronectin type III domain containing 3A [Gene - OMIM - HGNC]
  • GTF2F2:general transcription factor IIF subunit 2 [Gene - OMIM - HGNC]
  • ERICH6B:glutamate rich 6B [Gene - HGNC]
  • HNRNPA1L2:heterogeneous nuclear ribonucleoprotein A1 like 2 [Gene - HGNC]
  • ITM2B:integral membrane protein 2B [Gene - OMIM - HGNC]
  • INTS6:integrator complex subunit 6 [Gene - OMIM - HGNC]
  • KPNA3:karyopherin subunit alpha 3 [Gene - OMIM - HGNC]
  • KLHL1:kelch like family member 1 [Gene - OMIM - HGNC]
  • LACC1:laccase domain containing 1 [Gene - OMIM - HGNC]
  • LRRC63:leucine rich repeat containing 63 [Gene - HGNC]
  • LRCH1:leucine rich repeats and calponin homology domain containing 1 [Gene - OMIM - HGNC]
  • LINC00402:long intergenic non-protein coding RNA 402 [Gene - HGNC]
  • LINC00558:long intergenic non-protein coding RNA 558 [Gene - HGNC]
  • LCP1:lymphocyte cytosolic protein 1 [Gene - OMIM - HGNC]
  • LPAR6:lysophosphatidic acid receptor 6 [Gene - OMIM - HGNC]
  • MED4:mediator complex subunit 4 [Gene - OMIM - HGNC]
  • MIR15A:microRNA 15a [Gene - OMIM - HGNC]
  • MIR16-1:microRNA 16-1 [Gene - OMIM - HGNC]
  • MZT1:mitotic spindle organizing protein 1 [Gene - OMIM - HGNC]
  • MLNR:motilin receptor [Gene - OMIM - HGNC]
  • NUFIP1:nuclear FMR1 interacting protein 1 [Gene - OMIM - HGNC]
  • NUDT15:nudix hydrolase 15 [Gene - OMIM - HGNC]
  • OLFM4:olfactomedin 4 [Gene - OMIM - HGNC]
  • KCNRG:potassium channel regulator [Gene - OMIM - HGNC]
  • KCTD12:potassium channel tetramerization domain containing 12 [Gene - OMIM - HGNC]
  • KCTD4:potassium channel tetramerization domain containing 4 [Gene - HGNC]
  • PIBF1:progesterone immunomodulatory binding factor 1 [Gene - OMIM - HGNC]
  • PRR20A:proline rich 20A [Gene - HGNC]
  • PRR20B:proline rich 20B [Gene - HGNC]
  • PRR20C:proline rich 20C [Gene - HGNC]
  • PRR20D:proline rich 20D [Gene - HGNC]
  • PRR20E:proline rich 20E [Gene - HGNC]
  • PCDH17:protocadherin 17 [Gene - OMIM - HGNC]
  • PCDH20:protocadherin 20 [Gene - OMIM - HGNC]
  • PCDH8:protocadherin 8 [Gene - OMIM - HGNC]
  • PCDH9:protocadherin 9 [Gene - OMIM - HGNC]
  • RNASEH2B:ribonuclease H2 subunit B [Gene - OMIM - HGNC]
  • RUBCNL:rubicon like autophagy enhancer [Gene - HGNC]
  • SCEL:sciellin [Gene - OMIM - HGNC]
  • SERPINE3:serpin family E member 3 [Gene - HGNC]
  • SIAH3:siah E3 ubiquitin protein ligase family member 3 [Gene - OMIM - HGNC]
  • SMIM2:small integral membrane protein 2 [Gene - HGNC]
  • SLC25A30:solute carrier family 25 member 30 [Gene - OMIM - HGNC]
  • SPRY2:sprouty RTK signaling antagonist 2 [Gene - OMIM - HGNC]
  • SERP2:stress associated endoplasmic reticulum protein family member 2 [Gene - HGNC]
  • SUCLA2:succinate-CoA ligase ADP-forming subunit beta [Gene - OMIM - HGNC]
  • THSD1:thrombospondin type 1 domain containing 1 [Gene - OMIM - HGNC]
  • TRIM13:tripartite motif containing 13 [Gene - OMIM - HGNC]
  • TDRD3:tudor domain containing 3 [Gene - OMIM - HGNC]
  • TPT1:tumor protein, translationally-controlled 1 [Gene - OMIM - HGNC]
  • UCHL3:ubiquitin C-terminal hydrolase L3 [Gene - OMIM - HGNC]
  • LOC100288208:uncharacterized LOC100288208 [Gene]
  • VPS36:vacuolar protein sorting 36 homolog [Gene - OMIM - HGNC]
  • VWA8:von Willebrand factor A domain containing 8 [Gene - OMIM - HGNC]
  • ZC3H13:zinc finger CCCH-type containing 13 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
13q14.11-31.3
Genomic location:
Chr13: 42457841 - 91796698 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1
HGVS:
    Links:
    dbVar: nssv13645597; dbVar: nsv2777083
    Observations:
    1

    Condition(s)

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

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000502596ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratoriesno assertion criteria providedPathogenicnot providedclinical testing

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providednot providedyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories, SCV000502596.1

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

    Last Updated: Jan 24, 2020

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