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GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 27, 2017
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:
RCV000683572.1

Allele description [Variation Report for GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3]

GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3

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]
  • ALG5:ALG5 dolichyl-phosphate beta-glucosyltransferase [Gene - OMIM - HGNC]
  • AMER2:APC membrane recruitment protein 2 [Gene - OMIM - HGNC]
  • ATP12A:ATPase H+/K+ transporting non-gastric alpha2 subunit [Gene - OMIM - HGNC]
  • ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
  • ATP8A2:ATPase phospholipid transporting 8A2 [Gene - OMIM - HGNC]
  • ATXN8OS:ATXN8 opposite strand lncRNA [Gene - OMIM - HGNC]
  • BORA:BORA aurora kinase A activator [Gene - OMIM - HGNC]
  • BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
  • C1QTNF9:C1q and TNF related 9 [Gene - OMIM - HGNC]
  • C1QTNF9B:C1q and TNF related 9B [Gene - OMIM - HGNC]
  • CCDC169-SOHLH2:CCDC169-SOHLH2 readthrough [Gene - 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]
  • ELF1:E74 like ETS transcription factor 1 [Gene - OMIM - HGNC]
  • EBPL:EBP like [Gene - OMIM - HGNC]
  • EEF1AKMT1:EEF1A lysine methyltransferase 1 [Gene - OMIM - HGNC]
  • FREM2:FRAS1 related extracellular matrix 2 [Gene - OMIM - HGNC]
  • FRY:FRY microtubule binding protein [Gene - OMIM - HGNC]
  • GPR12:G protein-coupled receptor 12 [Gene - OMIM - HGNC]
  • GPALPP1:GPALPP motifs containing 1 [Gene - HGNC]
  • GSX1:GS homeobox 1 [Gene - OMIM - HGNC]
  • KLF5:KLF transcription factor 5 [Gene - OMIM - HGNC]
  • LHFPL6:LHFPL tetraspan subfamily member 6 [Gene - OMIM - HGNC]
  • MPHOSPH8:M-phase phosphoprotein 8 [Gene - OMIM - HGNC]
  • NAA16:N-alpha-acetyltransferase 16, NatA auxiliary subunit [Gene - OMIM - HGNC]
  • N4BP2L1:NEDD4 binding protein 2 like 1 [Gene - HGNC]
  • N4BP2L2:NEDD4 binding protein 2 like 2 [Gene - OMIM - HGNC]
  • NHLRC3:NHL repeat containing 3 [Gene - HGNC]
  • NEK3:NIMA related kinase 3 [Gene - OMIM - HGNC]
  • NEK5:NIMA related kinase 5 [Gene - OMIM - HGNC]
  • PDS5B:PDS5 cohesin associated factor B [Gene - OMIM - HGNC]
  • PHF11:PHD finger protein 11 [Gene - OMIM - HGNC]
  • RASL11A:RAS like family 11 member A [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]
  • POLR1D:RNA polymerase I and III subunit D [Gene - OMIM - HGNC]
  • SETDB2:SET domain bifurcated histone lysine methyltransferase 2 [Gene - OMIM - HGNC]
  • SUGT1:SGT1 homolog, MIS12 kinetochore complex assembly cochaperone [Gene - OMIM - HGNC]
  • SLC25A30-AS1:SLC25A30 antisense RNA 1 [Gene - HGNC]
  • SMAD9:SMAD family member 9 [Gene - OMIM - HGNC]
  • SPRYD7:SPRY domain containing 7 [Gene - OMIM - HGNC]
  • SUPT20H:SPT20 homolog, SAGA complex component [Gene - OMIM - HGNC]
  • SAP18:Sin3A associated protein 18 [Gene - OMIM - HGNC]
  • STARD13:StAR related lipid transfer domain containing 13 [Gene - OMIM - HGNC]
  • TNFRSF19:TNF receptor superfamily member 19 [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]
  • WASF3:WASP family member 3 [Gene - OMIM - HGNC]
  • WDFY2:WD repeat and FYVE domain containing 2 [Gene - OMIM - HGNC]
  • WBP4:WW domain binding protein 4 [Gene - OMIM - HGNC]
  • ALOX5AP:arachidonate 5-lipoxygenase activating protein [Gene - OMIM - HGNC]
  • B3GLCT:beta 3-glucosyltransferase [Gene - OMIM - HGNC]
  • CAB39L:calcium binding protein 39 like [Gene - OMIM - HGNC]
  • CPB2:carboxypeptidase B2 [Gene - OMIM - HGNC]
  • CSNK1A1L:casein kinase 1 alpha 1 like [Gene - HGNC]
  • CDX2:caudal type homeobox 2 [Gene - OMIM - HGNC]
  • CENPJ:centromere protein J [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]
  • CCDC169:coiled-coil domain containing 169 [Gene - HGNC]
  • CCDC70:coiled-coil domain containing 70 [Gene - HGNC]
  • COG3:component of oligomeric golgi complex 3 [Gene - OMIM - HGNC]
  • COG6:component of oligomeric golgi complex 6 [Gene - OMIM - HGNC]
  • CRYL1:crystallin lambda 1 [Gene - OMIM - HGNC]
  • CCNA1:cyclin A1 [Gene - OMIM - HGNC]
  • CDK8:cyclin dependent kinase 8 [Gene - OMIM - HGNC]
  • CYSLTR2:cysteinyl leukotriene receptor 2 [Gene - OMIM - HGNC]
  • CDADC1:cytidine and dCMP deaminase domain containing 1 [Gene - OMIM - 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]
  • DCLK1:doublecortin like kinase 1 [Gene - OMIM - HGNC]
  • ENOX1:ecto-NOX disulfide-thiol exchanger 1 [Gene - OMIM - HGNC]
  • EPSTI1:epithelial stromal interaction 1 [Gene - OMIM - HGNC]
  • ESD:esterase D [Gene - OMIM - HGNC]
  • EXOSC8:exosome component 8 [Gene - OMIM - HGNC]
  • XPO4:exportin 4 [Gene - OMIM - HGNC]
  • FAM124A:family with sequence similarity 124 member A [Gene - HGNC]
  • FAM216B:family with sequence similarity 216 member B [Gene - HGNC]
  • FGF9:fibroblast growth factor 9 [Gene - OMIM - HGNC]
  • FNDC3A:fibronectin type III domain containing 3A [Gene - OMIM - HGNC]
  • FLT1:fms related receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
  • FLT3:fms related receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
  • FOXO1:forkhead box O1 [Gene - OMIM - HGNC]
  • GJA3:gap junction protein alpha 3 [Gene - OMIM - HGNC]
  • GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
  • GJB6:gap junction protein beta 6 [Gene - OMIM - HGNC]
  • GTF2F2:general transcription factor IIF subunit 2 [Gene - OMIM - HGNC]
  • GTF3A:general transcription factor IIIA [Gene - OMIM - HGNC]
  • ERICH6B:glutamate rich 6B [Gene - HGNC]
  • HSPH1:heat shock protein family H (Hsp110) member 1 [Gene - OMIM - HGNC]
  • HNRNPA1L2:heterogeneous nuclear ribonucleoprotein A1 like 2 [Gene - HGNC]
  • HMGB1:high mobility group box 1 [Gene - OMIM - HGNC]
  • ITM2B:integral membrane protein 2B [Gene - OMIM - HGNC]
  • INTS6:integrator complex subunit 6 [Gene - OMIM - HGNC]
  • IL17D:interleukin 17D [Gene - OMIM - HGNC]
  • IFT88:intraflagellar transport 88 [Gene - OMIM - HGNC]
  • KPNA3:karyopherin subunit alpha 3 [Gene - OMIM - HGNC]
  • KATNAL1:katanin catalytic subunit A1 like 1 [Gene - OMIM - HGNC]
  • KLHL1:kelch like family member 1 [Gene - OMIM - HGNC]
  • KBTBD6:kelch repeat and BTB domain containing 6 [Gene - OMIM - HGNC]
  • KBTBD7:kelch repeat and BTB domain containing 7 [Gene - OMIM - HGNC]
  • KL:klotho [Gene - OMIM - HGNC]
  • LACC1:laccase domain containing 1 [Gene - OMIM - HGNC]
  • LATS2:large tumor suppressor kinase 2 [Gene - OMIM - HGNC]
  • LRRC63:leucine rich repeat containing 63 [Gene - HGNC]
  • LRCH1:leucine rich repeats and calponin homology domain containing 1 [Gene - OMIM - HGNC]
  • LNX2:ligand of numb-protein X 2 [Gene - OMIM - HGNC]
  • LINC00427:long intergenic non-protein coding RNA 427 [Gene - HGNC]
  • LINC00543:long intergenic non-protein coding RNA 543 [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]
  • MAB21L1:mab-21 like 1 [Gene - OMIM - HGNC]
  • MED4:mediator complex subunit 4 [Gene - OMIM - HGNC]
  • MEDAG:mesenteric estrogen dependent adipogenesis [Gene - HGNC]
  • MIR15A:microRNA 15a [Gene - OMIM - HGNC]
  • MIR16-1:microRNA 16-1 [Gene - OMIM - HGNC]
  • MTUS2:microtubule associated scaffold protein 2 [Gene - OMIM - HGNC]
  • MICU2:mitochondrial calcium uptake 2 [Gene - OMIM - HGNC]
  • MIPEP:mitochondrial intermediate peptidase [Gene - OMIM - HGNC]
  • MRPL57:mitochondrial ribosomal protein L57 [Gene - OMIM - HGNC]
  • MRPS31:mitochondrial ribosomal protein S31 [Gene - OMIM - HGNC]
  • MTRF1:mitochondrial translation release factor 1 [Gene - OMIM - HGNC]
  • MTIF3:mitochondrial translational initiation factor 3 [Gene - OMIM - HGNC]
  • MZT1:mitotic spindle organizing protein 1 [Gene - OMIM - HGNC]
  • MLNR:motilin receptor [Gene - OMIM - HGNC]
  • MTMR6:myotubularin related protein 6 [Gene - OMIM - HGNC]
  • NBEA:neurobeachin [Gene - OMIM - HGNC]
  • NUFIP1:nuclear FMR1 interacting protein 1 [Gene - OMIM - HGNC]
  • NUP58:nucleoporin 58 [Gene - OMIM - HGNC]
  • NUDT15:nudix hydrolase 15 [Gene - OMIM - HGNC]
  • OLFM4:olfactomedin 4 [Gene - OMIM - HGNC]
  • PDX1:pancreatic and duodenal homeobox 1 [Gene - OMIM - HGNC]
  • PSPC1:paraspeckle component 1 [Gene - OMIM - HGNC]
  • POSTN:periostin [Gene - OMIM - HGNC]
  • PABPC3:poly(A) binding protein cytoplasmic 3 [Gene - OMIM - HGNC]
  • PAN3:poly(A) specific ribonuclease subunit PAN3 [Gene - OMIM - HGNC]
  • PARP4:poly(ADP-ribose) polymerase family member 4 [Gene - OMIM - HGNC]
  • KCNRG:potassium channel regulator [Gene - OMIM - HGNC]
  • KCTD4:potassium channel tetramerization domain containing 4 [Gene - OMIM - HGNC]
  • PIBF1:progesterone immunomodulatory binding factor 1 [Gene - OMIM - HGNC]
  • PROSER1:proline and serine rich 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]
  • PCOTH:prostate and testis expressed opposite C1QTNF9B and MIPEP [Gene - OMIM - HGNC]
  • POMP:proteasome maturation protein [Gene - OMIM - 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]
  • RGCC:regulator of cell cycle [Gene - OMIM - HGNC]
  • RFXAP:regulatory factor X associated protein [Gene - OMIM - HGNC]
  • RXFP2:relaxin family peptide receptor 2 [Gene - OMIM - HGNC]
  • RFC3:replication factor C subunit 3 [Gene - OMIM - HGNC]
  • RNASEH2B:ribonuclease H2 subunit B [Gene - OMIM - HGNC]
  • RPL21:ribosomal protein L21 [Gene - OMIM - HGNC]
  • RNF17:ring finger protein 17 [Gene - OMIM - HGNC]
  • RNF6:ring finger protein 6 [Gene - OMIM - HGNC]
  • RUBCNL:rubicon like autophagy enhancer [Gene - OMIM - HGNC]
  • SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
  • SGCG:sarcoglycan gamma [Gene - OMIM - HGNC]
  • SERTM1:serine rich and transmembrane domain containing 1 [Gene - HGNC]
  • SERPINE3:serpin family E member 3 [Gene - HGNC]
  • SHISA2:shisa family member 2 [Gene - OMIM - HGNC]
  • SIAH3:siah E3 ubiquitin protein ligase family member 3 [Gene - OMIM - HGNC]
  • SMIM2:small integral membrane protein 2 [Gene - HGNC]
  • SLC25A15:solute carrier family 25 member 15 [Gene - OMIM - HGNC]
  • SLC25A30:solute carrier family 25 member 30 [Gene - OMIM - HGNC]
  • SLC46A3:solute carrier family 46 member 3 [Gene - OMIM - HGNC]
  • SLC7A1:solute carrier family 7 member 1 [Gene - OMIM - HGNC]
  • SPART:spartin [Gene - OMIM - HGNC]
  • SOHLH2:spermatogenesis and oogenesis specific basic helix-loop-helix 2 [Gene - OMIM - HGNC]
  • SPATA13:spermatogenesis associated 13 [Gene - OMIM - HGNC]
  • SKA3:spindle and kinetochore associated complex subunit 3 [Gene - OMIM - HGNC]
  • STOML3:stomatin like 3 [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]
  • TEX26:testis expressed 26 [Gene - HGNC]
  • THSD1:thrombospondin type 1 domain containing 1 [Gene - OMIM - HGNC]
  • TRPC4:transient receptor potential cation channel subfamily C member 4 [Gene - OMIM - HGNC]
  • TPTE2:transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 [Gene - OMIM - HGNC]
  • TRIM13:tripartite motif containing 13 [Gene - OMIM - HGNC]
  • TUBA3C:tubulin alpha 3c [Gene - OMIM - HGNC]
  • TDRD3:tudor domain containing 3 [Gene - OMIM - HGNC]
  • TPT1:tumor protein, translationally-controlled 1 [Gene - OMIM - HGNC]
  • UFM1:ubiquitin fold modifier 1 [Gene - OMIM - HGNC]
  • UBL3:ubiquitin like 3 [Gene - OMIM - HGNC]
  • USP12:ubiquitin specific peptidase 12 [Gene - OMIM - HGNC]
  • USPL1:ubiquitin specific peptidase like 1 [Gene - OMIM - HGNC]
  • URAD:ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase [Gene - OMIM - HGNC]
  • 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]
  • ZDHHC20:zinc finger DHHC-type palmitoyltransferase 20 [Gene - OMIM - HGNC]
  • ZMYM2:zinc finger MYM-type containing 2 [Gene - OMIM - HGNC]
  • ZMYM5:zinc finger MYM-type containing 5 [Gene - OMIM - HGNC]
  • ZAR1L:zygote arrest 1 like [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
13q11-22.1
Genomic location:
Chr13: 19436286 - 74045459 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000811081Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    		Pathogenic
    (Oct 27, 2017)     		germlineclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000811081.1

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

    Last Updated: Sep 1, 2024