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GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 22, 2014
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:
RCV000512009.3

Allele description [Variation Report for GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3]

GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3

Genes:
  • ATIC:5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase [Gene - OMIM - HGNC]
  • HTR2B:5-hydroxytryptamine receptor 2B [Gene - OMIM - HGNC]
  • ARL4C:ARF like GTPase 4C [Gene - OMIM - HGNC]
  • ABCA12:ATP binding cassette subfamily A member 12 [Gene - OMIM - HGNC]
  • ABCB6:ATP binding cassette subfamily B member 6 (LAN blood group) [Gene - OMIM - HGNC]
  • AGFG1:ArfGAP with FG repeats 1 [Gene - OMIM - HGNC]
  • AGAP1:ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 [Gene - OMIM - HGNC]
  • BOK:BCL2 family apoptosis regulator BOK [Gene - OMIM - HGNC]
  • BCS1L:BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Gene - OMIM - HGNC]
  • BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]
  • CCL20:C-C motif chemokine ligand 20 [Gene - OMIM - HGNC]
  • CXCR1:C-X-C motif chemokine receptor 1 [Gene - OMIM - HGNC]
  • CXCR2:C-X-C motif chemokine receptor 2 [Gene - OMIM - HGNC]
  • CCDC140:CCDC140 long non-coding RNA [Gene - HGNC]
  • CNOT9:CCR4-NOT transcription complex subunit 9 [Gene - OMIM - HGNC]
  • COPS7B:COP9 signalosome subunit 7B [Gene - OMIM - HGNC]
  • COPS8:COP9 signalosome subunit 8 [Gene - OMIM - HGNC]
  • COPS9:COP9 signalosome subunit 9 [Gene - OMIM - HGNC]
  • CTDSP1:CTD small phosphatase 1 [Gene - OMIM - HGNC]
  • D2HGDH:D-2-hydroxyglutarate dehydrogenase [Gene - OMIM - HGNC]
  • DIS3L2:DIS3 like 3'-5' exoribonuclease 2 [Gene - OMIM - HGNC]
  • DNAJB2:DnaJ heat shock protein family (Hsp40) member B2 [Gene - OMIM - HGNC]
  • DNAJB3:DnaJ heat shock protein family (Hsp40) member B3 [Gene - HGNC]
  • EFHD1:EF-hand domain family member D1 [Gene - OMIM - HGNC]
  • EPHA4:EPH receptor A4 [Gene - OMIM - HGNC]
  • FBXO36:F-box protein 36 [Gene - OMIM - HGNC]
  • FARP2:FERM, ARH/RhoGEF and pleckstrin domain protein 2 [Gene - OMIM - HGNC]
  • FEV:FEV transcription factor, ETS family member [Gene - OMIM - HGNC]
  • GPBAR1:G protein-coupled bile acid receptor 1 [Gene - OMIM - HGNC]
  • GPR35:G protein-coupled receptor 35 [Gene - OMIM - HGNC]
  • GPR55:G protein-coupled receptor 55 [Gene - OMIM - HGNC]
  • GMPPA:GDP-mannose pyrophosphorylase A [Gene - OMIM - HGNC]
  • GIGYF2:GRB10 interacting GYF protein 2 [Gene - OMIM - HGNC]
  • HJURP:Holliday junction recognition protein [Gene - OMIM - HGNC]
  • IKZF2:IKAROS family zinc finger 2 [Gene - OMIM - HGNC]
  • ILKAP:ILK associated serine/threonine phosphatase [Gene - OMIM - HGNC]
  • IQCA1:IQ motif containing with AAA domain 1 [Gene - HGNC]
  • IHH:Indian hedgehog signaling molecule [Gene - OMIM - HGNC]
  • LRRFIP1:LRR binding FLII interacting protein 1 [Gene - OMIM - HGNC]
  • NDUFA10:NADH:ubiquinone oxidoreductase subunit A10 [Gene - OMIM - HGNC]
  • PASK:PAS domain containing serine/threonine kinase [Gene - OMIM - HGNC]
  • PNKD:PNKD metallo-beta-lactamase domain containing [Gene - OMIM - HGNC]
  • RAB17:RAB17, member RAS oncogene family [Gene - OMIM - HGNC]
  • RBM44:RNA binding motif protein 44 [Gene - OMIM - HGNC]
  • RUFY4:RUN and FYVE domain containing 4 [Gene - OMIM - HGNC]
  • SAG:S-antigen visual arrestin [Gene - OMIM - HGNC]
  • SH3BP4:SH3 domain binding protein 4 [Gene - OMIM - HGNC]
  • SMARCAL1:SNF2 related chromatin remodeling annealing helicase 1 [Gene - OMIM - HGNC]
  • SP100:SP100 nuclear antigen [Gene - OMIM - HGNC]
  • SP110:SP110 nuclear body protein [Gene - OMIM - HGNC]
  • SP140L:SP140 nuclear body protein like [Gene - OMIM - HGNC]
  • SP140:SP140 nuclear body protein [Gene - OMIM - HGNC]
  • SPHKAP:SPHK1 interactor, AKAP domain containing [Gene - OMIM - HGNC]
  • THAP4:THAP domain containing 4 [Gene - OMIM - HGNC]
  • TRAF3IP1:TRAF3 interacting protein 1 [Gene - OMIM - HGNC]
  • UGT1A10:UDP glucuronosyltransferase family 1 member A10 [Gene - OMIM - HGNC]
  • UGT1A1:UDP glucuronosyltransferase family 1 member A1 [Gene - OMIM - HGNC]
  • UGT1A3:UDP glucuronosyltransferase family 1 member A3 [Gene - OMIM - HGNC]
  • UGT1A4:UDP glucuronosyltransferase family 1 member A4 [Gene - OMIM - HGNC]
  • UGT1A5:UDP glucuronosyltransferase family 1 member A5 [Gene - OMIM - HGNC]
  • UGT1A6:UDP glucuronosyltransferase family 1 member A6 [Gene - OMIM - HGNC]
  • UGT1A7:UDP glucuronosyltransferase family 1 member A7 [Gene - OMIM - HGNC]
  • UGT1A8:UDP glucuronosyltransferase family 1 member A8 [Gene - OMIM - HGNC]
  • UGT1A9:UDP glucuronosyltransferase family 1 member A9 [Gene - OMIM - HGNC]
  • B3GNT7:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 [Gene - OMIM - HGNC]
  • WDFY1:WD repeat and FYVE domain containing 1 [Gene - OMIM - HGNC]
  • WNT10A:Wnt family member 10A [Gene - OMIM - HGNC]
  • WNT6:Wnt family member 6 [Gene - OMIM - HGNC]
  • XRCC5:X-ray repair cross complementing 5 [Gene - OMIM - HGNC]
  • ASIC4:acid sensing ion channel subunit family member 4 [Gene - OMIM - HGNC]
  • ARPC2:actin related protein 2/3 complex subunit 2 [Gene - OMIM - HGNC]
  • ACSL3:acyl-CoA synthetase long chain family member 3 [Gene - OMIM - HGNC]
  • AP1S3:adaptor related protein complex 1 subunit sigma 3 [Gene - OMIM - HGNC]
  • AGXT:alanine--glyoxylate aminotransferase [Gene - OMIM - HGNC]
  • ALPG:alkaline phosphatase, germ cell [Gene - OMIM - HGNC]
  • ALPI:alkaline phosphatase, intestinal [Gene - OMIM - HGNC]
  • ALPP:alkaline phosphatase, placental [Gene - OMIM - HGNC]
  • AAMP:angio associated migratory cell protein [Gene - OMIM - HGNC]
  • ANKMY1:ankyrin repeat and MYND domain containing 1 [Gene - OMIM - HGNC]
  • ASB18:ankyrin repeat and SOCS box containing 18 [Gene - HGNC]
  • ASB1:ankyrin repeat and SOCS box containing 1 [Gene - OMIM - HGNC]
  • ANKZF1:ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 [Gene - OMIM - HGNC]
  • ANO7:anoctamin 7 [Gene - OMIM - HGNC]
  • AQP12A:aquaporin 12A [Gene - OMIM - HGNC]
  • AQP12B:aquaporin 12B [Gene - HGNC]
  • RNPEPL1:arginyl aminopeptidase like 1 [Gene - OMIM - HGNC]
  • ARMC9:armadillo repeat containing 9 [Gene - OMIM - HGNC]
  • DNPEP:aspartyl aminopeptidase [Gene - OMIM - HGNC]
  • ACKR3:atypical chemokine receptor 3 [Gene - OMIM - HGNC]
  • ATG16L1:autophagy related 16 like 1 [Gene - OMIM - HGNC]
  • ATG4B:autophagy related 4B cysteine peptidase [Gene - OMIM - HGNC]
  • ATG9A:autophagy related 9A [Gene - OMIM - HGNC]
  • CAB39:calcium binding protein 39 [Gene - OMIM - HGNC]
  • CAPN10:calpain 10 [Gene - OMIM - HGNC]
  • CHRND:cholinergic receptor nicotinic delta subunit [Gene - OMIM - HGNC]
  • CHRNG:cholinergic receptor nicotinic gamma subunit [Gene - OMIM - HGNC]
  • CHPF:chondroitin polymerizing factor [Gene - OMIM - HGNC]
  • C2orf72:chromosome 2 open reading frame 72 [Gene - HGNC]
  • C2orf83:chromosome 2 open reading frame 83 [Gene - HGNC]
  • CFAP65:cilia and flagella associated protein 65 [Gene - OMIM - HGNC]
  • CATIP:ciliogenesis associated TTC17 interacting protein [Gene - OMIM - HGNC]
  • COL4A3:collagen type IV alpha 3 chain [Gene - OMIM - HGNC]
  • COL4A4:collagen type IV alpha 4 chain [Gene - OMIM - HGNC]
  • COL6A3:collagen type VI alpha 3 chain [Gene - OMIM - HGNC]
  • CRYBA2:crystallin beta A2 [Gene - OMIM - HGNC]
  • CUL3:cullin 3 [Gene - OMIM - HGNC]
  • CNPPD1:cyclin Pas1/PHO80 domain containing 1 [Gene - HGNC]
  • CDK5R2:cyclin dependent kinase 5 regulatory subunit 2 [Gene - OMIM - HGNC]
  • CYP27A1:cytochrome P450 family 27 subfamily A member 1 [Gene - OMIM - HGNC]
  • DOCK10:dedicator of cytokinesis 10 [Gene - OMIM - HGNC]
  • DNER:delta/notch like EGF repeat containing [Gene - OMIM - HGNC]
  • DTYMK:deoxythymidylate kinase [Gene - OMIM - HGNC]
  • DES:desmin [Gene - OMIM - HGNC]
  • DGKD:diacylglycerol kinase delta [Gene - OMIM - HGNC]
  • DIRC3:disrupted in renal carcinoma 3 [Gene - OMIM - HGNC]
  • DUSP28:dual specificity phosphatase 28 [Gene - HGNC]
  • DAW1:dynein assembly factor with WD repeats 1 [Gene - OMIM - HGNC]
  • ECEL1:endothelin converting enzyme like 1 [Gene - OMIM - HGNC]
  • ERFE:erythroferrone [Gene - OMIM - HGNC]
  • ESPNL:espin like [Gene - OMIM - HGNC]
  • EIF4E2:eukaryotic translation initiation factor 4E family member 2 [Gene - OMIM - HGNC]
  • FAM124B:family with sequence similarity 124 member B [Gene - OMIM - HGNC]
  • FN1:fibronectin 1 [Gene - OMIM - HGNC]
  • GAL3ST2:galactose-3-O-sulfotransferase 2 [Gene - OMIM - HGNC]
  • GLB1L:galactosidase beta 1 like [Gene - HGNC]
  • GBX2:gastrulation brain homeobox 2 [Gene - OMIM - HGNC]
  • GPC1:glypican 1 [Gene - OMIM - HGNC]
  • HES6:hes family bHLH transcription factor 6 [Gene - OMIM - HGNC]
  • HDLBP:high density lipoprotein binding protein [Gene - OMIM - HGNC]
  • HDAC4:histone deacetylase 4 [Gene - OMIM - HGNC]
  • INHA:inhibin subunit alpha [Gene - OMIM - HGNC]
  • ING5:inhibitor of growth family member 5 [Gene - OMIM - HGNC]
  • IGFBP2:insulin like growth factor binding protein 2 [Gene - OMIM - HGNC]
  • IGFBP5:insulin like growth factor binding protein 5 [Gene - OMIM - HGNC]
  • IRS1:insulin receptor substrate 1 [Gene - OMIM - HGNC]
  • ITM2C:integral membrane protein 2C [Gene - OMIM - HGNC]
  • KLHL30:kelch like family member 30 [Gene - HGNC]
  • KIF1A:kinesin family member 1A [Gene - OMIM - HGNC]
  • MAB21L4:mab-21 like 4 [Gene - HGNC]
  • MROH2A:maestro heat like repeat family member 2A [Gene - HGNC]
  • MLPH:melanophilin [Gene - OMIM - HGNC]
  • MREG:melanoregulin [Gene - OMIM - HGNC]
  • MARCHF4:membrane associated ring-CH-type finger 4 [Gene - OMIM - HGNC]
  • MIR149:microRNA 149 [Gene - OMIM - HGNC]
  • MIR26B:microRNA 26b [Gene - OMIM - HGNC]
  • MIR375:microRNA 375 [Gene - OMIM - HGNC]
  • MFF:mitochondrial fission factor [Gene - OMIM - HGNC]
  • MRPL44:mitochondrial ribosomal protein L44 [Gene - OMIM - HGNC]
  • MTERF4:mitochondrial transcription termination factor 4 [Gene - OMIM - HGNC]
  • MOGAT1:monoacylglycerol O-acyltransferase 1 [Gene - OMIM - HGNC]
  • NPPC:natriuretic peptide C [Gene - OMIM - HGNC]
  • NEU2:neuraminidase 2 [Gene - OMIM - HGNC]
  • NEU4:neuraminidase 4 [Gene - OMIM - HGNC]
  • NMUR1:neuromedin U receptor 1 [Gene - OMIM - HGNC]
  • NGEF:neuronal guanine nucleotide exchange factor [Gene - OMIM - HGNC]
  • NYAP2:neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 [Gene - OMIM - HGNC]
  • NHEJ1:non-homologous end joining factor 1 [Gene - OMIM - HGNC]
  • NCL:nucleolin [Gene - OMIM - HGNC]
  • OBSL1:obscurin like cytoskeletal adaptor 1 [Gene - OMIM - HGNC]
  • OR6B2:olfactory receptor family 6 subfamily B member 2 [Gene - HGNC]
  • OR6B3:olfactory receptor family 6 subfamily B member 3 [Gene - HGNC]
  • OTOS:otospiralin [Gene - OMIM - HGNC]
  • PAX3:paired box 3 [Gene - OMIM - HGNC]
  • PER2:period circadian regulator 2 [Gene - OMIM - HGNC]
  • PECR:peroxisomal trans-2-enoyl-CoA reductase [Gene - OMIM - HGNC]
  • FARSB:phenylalanyl-tRNA synthetase subunit beta [Gene - OMIM - HGNC]
  • PDE6D:phosphodiesterase 6D [Gene - OMIM - HGNC]
  • PLCD4:phospholipase C delta 4 [Gene - OMIM - HGNC]
  • PID1:phosphotyrosine interaction domain containing 1 [Gene - OMIM - HGNC]
  • KCNJ13:potassium inwardly rectifying channel subfamily J member 13 [Gene - OMIM - HGNC]
  • KCNE4:potassium voltage-gated channel subfamily E regulatory subunit 4 [Gene - OMIM - HGNC]
  • PRLH:prolactin releasing hormone [Gene - OMIM - HGNC]
  • PRR21:proline rich 21 [Gene - HGNC]
  • PSMD1:proteasome 26S subunit, non-ATPase 1 [Gene - OMIM - HGNC]
  • PRKAG3:protein kinase AMP-activated non-catalytic subunit gamma 3 [Gene - OMIM - HGNC]
  • PPP1R7:protein phosphatase 1 regulatory subunit 7 [Gene - OMIM - HGNC]
  • PTPRN:protein tyrosine phosphatase receptor type N [Gene - OMIM - HGNC]
  • PTMA:prothymosin alpha [Gene - OMIM - HGNC]
  • RAMP1:receptor activity modifying protein 1 [Gene - OMIM - HGNC]
  • RESP18:regulated endocrine specific protein 18 [Gene - OMIM - HGNC]
  • RETREG2:reticulophagy regulator family member 2 [Gene - HGNC]
  • RHBDD1:rhomboid domain containing 1 [Gene - OMIM - HGNC]
  • RPL37A:ribosomal protein L37a [Gene - OMIM - HGNC]
  • RNF25:ring finger protein 25 [Gene - OMIM - HGNC]
  • SNORC:secondary ossification center associated regulator of chondrocyte maturation [Gene - OMIM - HGNC]
  • SPP2:secreted phosphoprotein 2 [Gene - OMIM - HGNC]
  • SCG2:secretogranin II [Gene - OMIM - HGNC]
  • SCLY:selenocysteine lyase [Gene - OMIM - HGNC]
  • SEPTIN2:septin 2 [Gene - OMIM - HGNC]
  • PRSS56:serine protease 56 [Gene - OMIM - HGNC]
  • STK11IP:serine/threonine kinase 11 interacting protein [Gene - OMIM - HGNC]
  • STK16:serine/threonine kinase 16 [Gene - OMIM - HGNC]
  • STK25:serine/threonine kinase 25 [Gene - OMIM - HGNC]
  • STK36:serine/threonine kinase 36 [Gene - OMIM - HGNC]
  • SERPINE2:serpin family E member 2 [Gene - OMIM - HGNC]
  • SNORD20:small nucleolar RNA, C/D box 20 [Gene - OMIM - HGNC]
  • SNORD82:small nucleolar RNA, C/D box 82 [Gene - OMIM - HGNC]
  • SLC11A1:solute carrier family 11 member 1 [Gene - OMIM - HGNC]
  • SLC16A14:solute carrier family 16 member 14 [Gene - HGNC]
  • SLC19A3:solute carrier family 19 member 3 [Gene - OMIM - HGNC]
  • SLC23A3:solute carrier family 23 member 3 [Gene - OMIM - HGNC]
  • SLC4A3:solute carrier family 4 member 3 [Gene - OMIM - HGNC]
  • SPAG16:sperm associated antigen 16 [Gene - OMIM - HGNC]
  • SPATA3:spermatogenesis associated 3 [Gene - OMIM - HGNC]
  • SGPP2:sphingosine-1-phosphate phosphatase 2 [Gene - OMIM - HGNC]
  • SPEG:striated muscle enriched protein kinase [Gene - OMIM - HGNC]
  • SNED1:sushi, nidogen and EGF like domains 1 [Gene - OMIM - HGNC]
  • TNS1:tensin 1 [Gene - OMIM - HGNC]
  • TEX44:testis expressed 44 [Gene - HGNC]
  • TRIP12:thyroid hormone receptor interactor 12 [Gene - OMIM - HGNC]
  • TIGD1:tigger transposable element derived 1 [Gene - OMIM - HGNC]
  • TRPM8:transient receptor potential cation channel subfamily M member 8 [Gene - OMIM - HGNC]
  • TNP1:transition protein 1 [Gene - OMIM - HGNC]
  • TM4SF20:transmembrane 4 L six family member 20 [Gene - OMIM - HGNC]
  • TMBIM1:transmembrane BAX inhibitor motif containing 1 [Gene - OMIM - HGNC]
  • TMEM169:transmembrane protein 169 [Gene - HGNC]
  • TMEM198:transmembrane protein 198 [Gene - HGNC]
  • TUBA4A:tubulin alpha 4a [Gene - OMIM - HGNC]
  • TTLL4:tubulin tyrosine ligase like 4 [Gene - OMIM - HGNC]
  • TWIST2:twist family bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • UBE2F:ubiquitin conjugating enzyme E2 F (putative) [Gene - OMIM - HGNC]
  • USP37:ubiquitin specific peptidase 37 [Gene - OMIM - HGNC]
  • USP40:ubiquitin specific peptidase 40 [Gene - OMIM - HGNC]
  • VIL1:villin 1 [Gene - OMIM - HGNC]
  • VWC2L:von Willebrand factor C domain containing 2 like [Gene - OMIM - HGNC]
  • ZFAND2B:zinc finger AN1-type containing 2B [Gene - OMIM - HGNC]
  • ZNF142:zinc finger protein 142 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2q34-37.3
Genomic location:
Chr2: 213518431 - 242783384 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3
HGVS:
    Links:
    dbVar: nssv13653400; dbVar: nsv2770692
    Observations:
    1

    Condition(s)

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

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000584677ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (Oct 22, 2014)     		unknownclinical testing

    PubMed (1)
    [See all records that cite this PMID]

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    humannot providedyes1not providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

    Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

    Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

    PubMed [citation]
    PMID:
    20466091
    PMCID:
    PMC2869000

    Details of each submission

    From ISCA site 1, SCV000584677.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1human1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: Jan 25, 2025