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GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3 AND not provided

Germline classification:
Likely pathogenic (1 submission)
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:
RCV002221457.2

Allele description [Variation Report for GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3]

GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3

Genes:
  • HMGCLL1:3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 [Gene - OMIM - HGNC]
  • BAG2:BAG cochaperone 2 [Gene - OMIM - HGNC]
  • BEND6:BEN domain containing 6 [Gene - HGNC]
  • CD2AP:CD2 associated protein [Gene - OMIM - HGNC]
  • EFHC1:EF-hand domain containing 1 [Gene - OMIM - HGNC]
  • ELOVL5:ELOVL fatty acid elongase 5 [Gene - OMIM - HGNC]
  • FBXO9:F-box protein 9 [Gene - OMIM - HGNC]
  • GFRAL:GDNF family receptor alpha like [Gene - OMIM - HGNC]
  • KHDRBS2:KH RNA binding domain containing, signal transduction associated 2 [Gene - OMIM - HGNC]
  • KIAA1586:KIAA1586 [Gene - HGNC]
  • NFKBIE:NFKB inhibitor epsilon [Gene - OMIM - HGNC]
  • PHF3:PHD finger protein 3 [Gene - OMIM - HGNC]
  • PKHD1:PKHD1 ciliary IPT domain containing fibrocystin/polyductin [Gene - OMIM - HGNC]
  • RAB23:RAB23, member RAS oncogene family [Gene - OMIM - HGNC]
  • RN7SK:RNA component of 7SK nuclear ribonucleoprotein [Gene - OMIM - HGNC]
  • RUNX2:RUNX family transcription factor 2 [Gene - OMIM - HGNC]
  • RHAG:Rh associated glycoprotein [Gene - OMIM - HGNC]
  • SUPT3H:SPT3 homolog, SAGA and STAGA complex component [Gene - OMIM - HGNC]
  • TNFRSF21:TNF receptor superfamily member 21 [Gene - OMIM - HGNC]
  • ADGRF1:adhesion G protein-coupled receptor F1 [Gene - OMIM - HGNC]
  • ADGRF2:adhesion G protein-coupled receptor F2 [Gene - HGNC]
  • ADGRF4:adhesion G protein-coupled receptor F4 [Gene - OMIM - HGNC]
  • ADGRF5:adhesion G protein-coupled receptor F5 [Gene - HGNC]
  • AARS2:alanyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • ANKRD66:ankyrin repeat domain 66 [Gene - HGNC]
  • BMP5:bone morphogenetic protein 5 [Gene - OMIM - HGNC]
  • CAPN11:calpain 11 [Gene - OMIM - HGNC]
  • CDC5L:cell division cycle 5 like [Gene - OMIM - HGNC]
  • CENPQ:centromere protein Q [Gene - OMIM - HGNC]
  • CLIC5:chloride intracellular channel 5 [Gene - OMIM - HGNC]
  • C6orf141:chromosome 6 open reading frame 141 [Gene - HGNC]
  • CILK1:ciliogenesis associated kinase 1 [Gene - OMIM - HGNC]
  • COL21A1:collagen type XXI alpha 1 chain [Gene - OMIM - HGNC]
  • CRISP1:cysteine rich secretory protein 1 [Gene - OMIM - HGNC]
  • CRISP2:cysteine rich secretory protein 2 [Gene - OMIM - HGNC]
  • CRISP3:cysteine rich secretory protein 3 [Gene - OMIM - HGNC]
  • CYP39A1:cytochrome P450 family 39 subfamily A member 1 [Gene - OMIM - HGNC]
  • DEFB110:defensin beta 110 [Gene - HGNC]
  • DEFB112:defensin beta 112 [Gene - HGNC]
  • DEFB113:defensin beta 113 [Gene - HGNC]
  • DEFB114:defensin beta 114 [Gene - OMIM - HGNC]
  • ENPP4:ectonucleotide pyrophosphatase/phosphodiesterase 4 [Gene - OMIM - HGNC]
  • ENPP5:ectonucleotide pyrophosphatase/phosphodiesterase family member 5 [Gene - OMIM - HGNC]
  • EYS:eyes shut homolog [Gene - OMIM - HGNC]
  • FAM83B:family with sequence similarity 83 member B [Gene - HGNC]
  • GCM1:glial cells missing transcription factor 1 [Gene - OMIM - HGNC]
  • GCLC:glutamate-cysteine ligase catalytic subunit [Gene - OMIM - HGNC]
  • GSTA1:glutathione S-transferase alpha 1 [Gene - OMIM - HGNC]
  • GSTA2:glutathione S-transferase alpha 2 [Gene - OMIM - HGNC]
  • GSTA3:glutathione S-transferase alpha 3 [Gene - OMIM - HGNC]
  • GSTA4:glutathione S-transferase alpha 4 [Gene - OMIM - HGNC]
  • GSTA5:glutathione S-transferase alpha 5 [Gene - OMIM - HGNC]
  • GLYATL3:glycine-N-acyltransferase like 3 [Gene - OMIM - HGNC]
  • HSP90AB1:heat shock protein 90 alpha family class B member 1 [Gene - OMIM - HGNC]
  • HCRTR2:hypocretin receptor 2 [Gene - OMIM - HGNC]
  • IL17A:interleukin 17A [Gene - OMIM - HGNC]
  • IL17F:interleukin 17F [Gene - OMIM - HGNC]
  • KLHL31:kelch like family member 31 [Gene - OMIM - HGNC]
  • LGSN:lengsin, lens protein with glutamine synthetase domain [Gene - OMIM - HGNC]
  • LRRC1:leucine rich repeat containing 1 [Gene - OMIM - HGNC]
  • LINC03040:long intergenic non-protein coding RNA 3040 [Gene - HGNC]
  • MEP1A:meprin A subunit alpha [Gene - OMIM - HGNC]
  • MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]
  • MIR133B:microRNA 133b [Gene - OMIM - HGNC]
  • MIR206:microRNA 206 [Gene - OMIM - HGNC]
  • MCM3:minichromosome maintenance complex component 3 [Gene - OMIM - HGNC]
  • MRPL14:mitochondrial ribosomal protein L14 [Gene - OMIM - HGNC]
  • MRPS18A:mitochondrial ribosomal protein S18A [Gene - OMIM - HGNC]
  • MLIP:muscular LMNA interacting protein [Gene - OMIM - HGNC]
  • OPN5:opsin 5 [Gene - OMIM - HGNC]
  • PTCHD4:patched domain containing 4 [Gene - OMIM - HGNC]
  • PGK2:phosphoglycerate kinase 2 [Gene - OMIM - HGNC]
  • PLA2G7:phospholipase A2 group VII [Gene - OMIM - HGNC]
  • PAQR8:progestin and adipoQ receptor family member 8 [Gene - OMIM - HGNC]
  • PTP4A1:protein tyrosine phosphatase 4A1 [Gene - OMIM - HGNC]
  • RSPH9:radial spoke head component 9 [Gene - OMIM - HGNC]
  • RCAN2:regulator of calcineurin 2 [Gene - OMIM - HGNC]
  • SLC25A27:solute carrier family 25 member 27 [Gene - OMIM - HGNC]
  • SLC29A1:solute carrier family 29 member 1 (Augustine blood group) [Gene - OMIM - HGNC]
  • SLC35B2:solute carrier family 35 member B2 [Gene - OMIM - HGNC]
  • SPATS1:spermatogenesis associated serine rich 1 [Gene - HGNC]
  • TCTE1:t-complex-associated-testis-expressed 1 [Gene - OMIM - HGNC]
  • TFAP2B:transcription factor AP-2 beta [Gene - OMIM - HGNC]
  • TFAP2D:transcription factor AP-2 delta [Gene - OMIM - HGNC]
  • TRAM2:translocation associated membrane protein 2 [Gene - OMIM - HGNC]
  • TMEM14A:transmembrane protein 14A [Gene - OMIM - HGNC]
  • TMEM151B:transmembrane protein 151B [Gene - HGNC]
  • TMEM63B:transmembrane protein 63B [Gene - OMIM - HGNC]
  • TINAG:tubulointerstitial nephritis antigen [Gene - OMIM - HGNC]
  • TDRD6:tudor domain containing 6 [Gene - OMIM - HGNC]
  • LOC101926915:uncharacterized LOC101926915 [Gene]
  • LOC101927189:uncharacterized LOC101927189 [Gene]
  • VEGFA:vascular endothelial growth factor A [Gene - OMIM - HGNC]
  • ZNF451:zinc finger protein 451 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
6p21.1-q12
Genomic location:
Chr6: 43636308 - 64947206 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV002498751Shanghai First Maternity and Infant Hospital, Tongji University
    no assertion criteria provided
    Likely pathogenicunknownclinical testing

    Summary from all submissions

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

    Details of each submission

    From Shanghai First Maternity and Infant Hospital, Tongji University, SCV002498751.1

    #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