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GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)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:
RCV000240460.2

Allele description [Variation Report for GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3]

GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3

Genes:
  • CD83:CD83 molecule [Gene - OMIM - HGNC]
  • CDKAL1:CDK5 regulatory subunit associated protein 1 like 1 [Gene - OMIM - HGNC]
  • DEK:DEK proto-oncogene [Gene - OMIM - HGNC]
  • E2F3:E2F transcription factor 3 [Gene - OMIM - HGNC]
  • ELOVL2:ELOVL fatty acid elongase 2 [Gene - OMIM - HGNC]
  • GMDS:GDP-mannose 4,6-dehydratase [Gene - OMIM - HGNC]
  • GFOD1:Gfo/Idh/MocA-like oxidoreductase domain containing 1 [Gene - OMIM - HGNC]
  • HDGFL1:HDGF like 1 [Gene - HGNC]
  • HIVEP1:HIVEP zinc finger 1 [Gene - OMIM - HGNC]
  • HUS1B:HUS1 checkpoint clamp component B [Gene - OMIM - HGNC]
  • LYRM4:LYR motif containing 4 [Gene - OMIM - HGNC]
  • NQO2:N-ribosyldihydronicotinamide:quinone dehydrogenase 2 [Gene - OMIM - HGNC]
  • NHLRC1:NHL repeat containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • PAK1IP1:PAK1 interacting protein 1 [Gene - OMIM - HGNC]
  • PXDC1:PX domain containing 1 [Gene - HGNC]
  • RANBP9:RAN binding protein 9 [Gene - OMIM - HGNC]
  • RIOK1:RIO kinase 1 [Gene - OMIM - HGNC]
  • RBM24:RNA binding motif protein 24 [Gene - OMIM - HGNC]
  • SOX4:SRY-box transcription factor 4 [Gene - OMIM - HGNC]
  • TBC1D7:TBC1 domain family member 7 [Gene - OMIM - HGNC]
  • WRNIP1:WRN helicase interacting protein 1 [Gene - OMIM - HGNC]
  • ADTRP:androgen dependent TFPI regulating protein [Gene - OMIM - HGNC]
  • ATXN1:ataxin 1 [Gene - OMIM - HGNC]
  • BLOC1S5:biogenesis of lysosomal organelles complex 1 subunit 5 [Gene - OMIM - HGNC]
  • BPHL:biphenyl hydrolase like [Gene - OMIM - HGNC]
  • BMP6:bone morphogenetic protein 6 [Gene - OMIM - HGNC]
  • CAGE1:cancer antigen 1 [Gene - OMIM - HGNC]
  • CDYL:chromodomain Y like [Gene - OMIM - HGNC]
  • C6orf201:chromosome 6 open reading frame 201 [Gene - HGNC]
  • C6orf52:chromosome 6 open reading frame 52 [Gene - HGNC]
  • F13A1:coagulation factor XIII A chain [Gene - OMIM - HGNC]
  • CAP2:cyclase associated actin cytoskeleton regulatory protein 2 [Gene - OMIM - HGNC]
  • DSP:desmoplakin [Gene - OMIM - HGNC]
  • DUSP22:dual specificity phosphatase 22 [Gene - OMIM - HGNC]
  • DTNBP1:dystrobrevin binding protein 1 [Gene - OMIM - HGNC]
  • ERVFRD-1:endogenous retrovirus group FRD member 1, envelope [Gene - OMIM - HGNC]
  • EDN1:endothelin 1 [Gene - OMIM - HGNC]
  • ECI2:enoyl-CoA delta isomerase 2 [Gene - OMIM - HGNC]
  • EEF1E1:eukaryotic translation elongation factor 1 epsilon 1 [Gene - OMIM - HGNC]
  • EXOC2:exocyst complex component 2 [Gene - OMIM - HGNC]
  • FAM217A:family with sequence similarity 217 member A [Gene - HGNC]
  • FAM50B:family with sequence similarity 50 member B [Gene - OMIM - HGNC]
  • FAM8A1:family with sequence similarity 8 member A1 [Gene - OMIM - HGNC]
  • FOXC1:forkhead box C1 [Gene - OMIM - HGNC]
  • FOXF2:forkhead box F2 [Gene - OMIM - HGNC]
  • FOXQ1:forkhead box Q1 [Gene - OMIM - HGNC]
  • GCM2:glial cells missing transcription factor 2 [Gene - OMIM - HGNC]
  • GCNT2:glucosaminyl (N-acetyl) transferase 2 (I blood group) [Gene - OMIM - HGNC]
  • GMPR:guanosine monophosphate reductase [Gene - OMIM - HGNC]
  • HULC:hepatocellular carcinoma up-regulated long non-coding RNA [Gene - OMIM - HGNC]
  • ID4:inhibitor of DNA binding 4 [Gene - OMIM - HGNC]
  • IRF4:interferon regulatory factor 4 [Gene - OMIM - HGNC]
  • JARID2:jumonji and AT-rich interaction domain containing 2 [Gene - OMIM - HGNC]
  • KIF13A:kinesin family member 13A [Gene - OMIM - HGNC]
  • LINC01600:long intergenic non-protein coding RNA 1600 [Gene - HGNC]
  • LY86:lymphocyte antigen 86 [Gene - OMIM - HGNC]
  • KDM1B:lysine demethylase 1B [Gene - OMIM - HGNC]
  • MAK:male germ cell associated kinase [Gene - OMIM - HGNC]
  • MBOAT1:membrane bound O-acyltransferase domain containing 1 [Gene - OMIM - HGNC]
  • MCUR1:mitochondrial calcium uniporter regulator 1 [Gene - OMIM - HGNC]
  • MYLK4:myosin light chain kinase family member 4 [Gene - HGNC]
  • MYLIP:myosin regulatory light chain interacting protein [Gene - OMIM - HGNC]
  • NEDD9:neural precursor cell expressed, developmentally down-regulated 9 [Gene - OMIM - HGNC]
  • NRN1:neuritin 1 [Gene - OMIM - HGNC]
  • NOL7:nucleolar protein 7 [Gene - OMIM - HGNC]
  • NUP153:nucleoporin 153 [Gene - OMIM - HGNC]
  • OFCC1:orofacial cleft 1 candidate 1 [Gene - OMIM - HGNC]
  • FARS2:phenylalanyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • PHACTR1:phosphatase and actin regulator 1 [Gene - OMIM - HGNC]
  • PRPF4B:pre-mRNA processing factor 4B [Gene - OMIM - HGNC]
  • PRL:prolactin [Gene - OMIM - HGNC]
  • PSMG4:proteasome assembly chaperone 4 [Gene - OMIM - HGNC]
  • PPP1R3G:protein phosphatase 1 regulatory subunit 3G [Gene - OMIM - HGNC]
  • RREB1:ras responsive element binding protein 1 [Gene - OMIM - HGNC]
  • RIPK1:receptor interacting serine/threonine kinase 1 [Gene - OMIM - HGNC]
  • RPP40:ribonuclease P/MRP subunit p40 [Gene - OMIM - HGNC]
  • RNF144B:ring finger protein 144B [Gene - OMIM - HGNC]
  • RNF182:ring finger protein 182 [Gene - HGNC]
  • SERPINB1:serpin family B member 1 [Gene - OMIM - HGNC]
  • SERPINB6:serpin family B member 6 [Gene - OMIM - HGNC]
  • SERPINB9:serpin family B member 9 [Gene - OMIM - HGNC]
  • SSR1:signal sequence receptor subunit 1 [Gene - OMIM - HGNC]
  • SIRT5:sirtuin 5 [Gene - OMIM - HGNC]
  • SMIM13:small integral membrane protein 13 [Gene - HGNC]
  • SNRNP48:small nuclear ribonucleoprotein U11/U12 subunit 48 [Gene - HGNC]
  • SLC22A23:solute carrier family 22 member 23 [Gene - OMIM - HGNC]
  • SLC35B3:solute carrier family 35 member B3 [Gene - OMIM - HGNC]
  • STMND1:stathmin domain containing 1 [Gene - HGNC]
  • SYCP2L:synaptonemal complex protein 2 like [Gene - OMIM - HGNC]
  • TPMT:thiopurine S-methyltransferase [Gene - OMIM - HGNC]
  • TFAP2A:transcription factor AP-2 alpha [Gene - OMIM - HGNC]
  • TMEM14B:transmembrane protein 14B [Gene - OMIM - HGNC]
  • TMEM14C:transmembrane protein 14C [Gene - OMIM - HGNC]
  • TMEM170B:transmembrane protein 170B [Gene - HGNC]
  • TUBB2A:tubulin beta 2A class IIa [Gene - OMIM - HGNC]
  • TUBB2B:tubulin beta 2B class IIb [Gene - OMIM - HGNC]
  • KU-MEL-3:uncharacterized LOC497048 [Gene]
Variant type:
copy number gain
Cytogenetic location:
6p25.3-22.3
Genomic location:
Chr6: 168775 - 24023234 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3
HGVS:

    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
    SCV000298483GeneDx
    criteria provided, single submitter

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

    Citation Link

    Summary from all submissions

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

    Details of each submission

    From GeneDx, SCV000298483.3

    #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: Oct 14, 2023