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GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 23, 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:
RCV000512365.3

Allele description [Variation Report for GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3]

GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3

Genes:
  • HTR2C:5-hydroxytryptamine receptor 2C [Gene - OMIM - HGNC]
  • AKAP14:A-kinase anchoring protein 14 [Gene - OMIM - HGNC]
  • ARL13A:ADP ribosylation factor like GTPase 13A [Gene - HGNC]
  • AFF2:ALF transcription elongation factor 2 [Gene - OMIM - HGNC]
  • ALG13:ALG13 UDP-N-acetylglucosaminyltransferase subunit [Gene - OMIM - HGNC]
  • AMMECR1:AMMECR nuclear protein 1 [Gene - OMIM - HGNC]
  • ARMCX3-AS1:ARMCX3 antisense RNA 1 [Gene - HGNC]
  • ARMCX5-GPRASP2:ARMCX5-GPRASP2 readthrough [Gene - HGNC]
  • ATP1B4:ATPase Na+/K+ transporting family member beta 4 [Gene - OMIM - HGNC]
  • ATP11C:ATPase phospholipid transporting 11C [Gene - OMIM - HGNC]
  • BCORL1:BCL6 corepressor like 1 [Gene - OMIM - HGNC]
  • BTK:Bruton tyrosine kinase [Gene - OMIM - HGNC]
  • C1GALT1C1:C1GALT1 specific chaperone 1 [Gene - OMIM - HGNC]
  • CD40LG:CD40 ligand [Gene - OMIM - HGNC]
  • CD99L2:CD99 molecule like 2 [Gene - OMIM - HGNC]
  • DCAF12L1:DDB1 and CUL4 associated factor 12 like 1 [Gene - HGNC]
  • DCAF12L2:DDB1 and CUL4 associated factor 12 like 2 [Gene - HGNC]
  • DANT2:DXZ4 associated non-coding transcript 2, distal [Gene - OMIM - HGNC]
  • ELF4:E74 like ETS transcription factor 4 [Gene - OMIM - HGNC]
  • ESX1:ESX homeobox 1 [Gene - OMIM - HGNC]
  • FRMPD3:FERM and PDZ domain containing 3 [Gene - OMIM - HGNC]
  • FRMD7:FERM domain containing 7 [Gene - OMIM - HGNC]
  • FMR1-AS1:FMR1 antisense RNA 1 [Gene - OMIM - HGNC]
  • FMR1NB:FMR1 neighbor [Gene - HGNC]
  • GPR101:G protein-coupled receptor 101 [Gene - OMIM - HGNC]
  • GPR119:G protein-coupled receptor 119 [Gene - OMIM - HGNC]
  • GPR50:G protein-coupled receptor 50 [Gene - OMIM - HGNC]
  • GPRASP1:G protein-coupled receptor associated sorting protein 1 [Gene - OMIM - HGNC]
  • GPRASP2:G protein-coupled receptor associated sorting protein 2 [Gene - OMIM - HGNC]
  • GPRASP3:G protein-coupled receptor associated sorting protein family member 3 [Gene - OMIM - HGNC]
  • GPR50-AS1:GPR50 antisense RNA 1 [Gene - HGNC]
  • H2BW1:H2B.W histone 1 [Gene - OMIM - HGNC]
  • H2BW2:H2B.W histone 2 [Gene - HGNC]
  • HTATSF1:HIV-1 Tat specific factor 1 [Gene - OMIM - HGNC]
  • KIAA1210:KIAA1210 [Gene - OMIM - HGNC]
  • LDOC1:LDOC1 regulator of NFKB signaling [Gene - OMIM - HGNC]
  • LHFPL1:LHFPL tetraspan subfamily member 1 [Gene - OMIM - HGNC]
  • LONRF3:LON peptidase N-terminal domain and ring finger 3 [Gene - HGNC]
  • MAGEA10:MAGE family member A10 [Gene - OMIM - HGNC]
  • MAGEA11:MAGE family member A11 [Gene - OMIM - HGNC]
  • MAGEA4:MAGE family member A4 [Gene - OMIM - HGNC]
  • MAGEA6:MAGE family member A6 [Gene - OMIM - HGNC]
  • MAGEA8:MAGE family member A8 [Gene - OMIM - HGNC]
  • MAGEA9:MAGE family member A9 [Gene - OMIM - HGNC]
  • MAGEA9B:MAGE family member A9B [Gene - OMIM - HGNC]
  • MAGEC1:MAGE family member C1 [Gene - OMIM - HGNC]
  • MAGEC2:MAGE family member C2 [Gene - OMIM - HGNC]
  • MAGEC3:MAGE family member C3 [Gene - OMIM - HGNC]
  • MAP7D3:MAP7 domain containing 3 [Gene - OMIM - HGNC]
  • MCF2:MCF.2 cell line derived transforming sequence [Gene - OMIM - HGNC]
  • MCTS1:MCTS1 re-initiation and release factor [Gene - OMIM - HGNC]
  • MORC4:MORC family CW-type zinc finger 4 [Gene - OMIM - HGNC]
  • NDUFA1:NADH:ubiquinone oxidoreductase subunit A1 [Gene - OMIM - HGNC]
  • NOX1:NADPH oxidase 1 [Gene - OMIM - HGNC]
  • NKAP:NFKB activating protein [Gene - OMIM - HGNC]
  • NKRF:NFKB repressing factor [Gene - OMIM - HGNC]
  • NRK:Nik related kinase [Gene - OMIM - HGNC]
  • OCRL:OCRL inositol polyphosphate-5-phosphatase [Gene - OMIM - HGNC]
  • PABIR2:PABIR family member 2 [Gene - HGNC]
  • PABIR3:PABIR family member 3 [Gene - HGNC]
  • PASD1:PAS domain containing repressor 1 [Gene - OMIM - HGNC]
  • PHF6:PHD finger protein 6 [Gene - OMIM - HGNC]
  • PWWP3B:PWWP domain containing 3B [Gene - HGNC]
  • RAB33A:RAB33A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB40AL:RAB40A like [Gene - OMIM - HGNC]
  • RAB40A:RAB40A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB9B:RAB9B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAP2C:RAP2C, member of RAS oncogene family [Gene - OMIM - HGNC]
  • RBMXL3:RBMX like 3 [Gene - HGNC]
  • RBM41:RNA binding motif protein 41 [Gene - HGNC]
  • RBMX2:RNA binding motif protein X-linked 2 [Gene - HGNC]
  • RBMX:RNA binding motif protein X-linked [Gene - OMIM - HGNC]
  • RADX:RPA1 related single stranded DNA binding protein, X-linked [Gene - HGNC]
  • RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
  • ARHGEF6:Rac/Cdc42 guanine nucleotide exchange factor 6 [Gene - OMIM - HGNC]
  • ARHGAP36:Rho GTPase activating protein 36 [Gene - OMIM - HGNC]
  • RHOXF1:Rhox homeobox family member 1 [Gene - OMIM - HGNC]
  • RHOXF2:Rhox homeobox family member 2 [Gene - OMIM - HGNC]
  • RHOXF2B:Rhox homeobox family member 2B [Gene - HGNC]
  • SASH3:SAM and SH3 domain containing 3 [Gene - OMIM - HGNC]
  • SH2D1A:SH2 domain containing 1A [Gene - OMIM - HGNC]
  • SLITRK2:SLIT and NTRK like family member 2 [Gene - OMIM - HGNC]
  • SLITRK4:SLIT and NTRK like family member 4 [Gene - OMIM - HGNC]
  • SPANXA2:SPANX family member A2 [Gene - OMIM - HGNC]
  • SPANXB1:SPANX family member B1 [Gene - OMIM - HGNC]
  • SPANXC:SPANX family member C [Gene - OMIM - HGNC]
  • SPANXD:SPANX family member D [Gene - OMIM - HGNC]
  • SPANXN1:SPANX family member N1 [Gene - OMIM - HGNC]
  • SPANXN2:SPANX family member N2 [Gene - OMIM - HGNC]
  • SPANXN3:SPANX family member N3 [Gene - OMIM - HGNC]
  • SPANXN4:SPANX family member N4 [Gene - OMIM - HGNC]
  • SOX3:SRY-box transcription factor 3 [Gene - OMIM - HGNC]
  • STAG2:STAG2 cohesin complex component [Gene - OMIM - HGNC]
  • STEEP1:STING1 ER exit protein 1 [Gene - OMIM - HGNC]
  • SMARCA1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [Gene - OMIM - HGNC]
  • TAF7L:TATA-box binding protein associated factor 7 like [Gene - OMIM - HGNC]
  • TBC1D8B:TBC1 domain family member 8B [Gene - OMIM - HGNC]
  • THOC2:THO complex subunit 2 [Gene - OMIM - HGNC]
  • TRPC5OS:TRPC5 opposite strand [Gene - HGNC]
  • TSC22D3:TSC22 domain family member 3 [Gene - OMIM - HGNC]
  • UPF3B:UPF3B regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
  • UTP14A:UTP14A small subunit processome component [Gene - OMIM - HGNC]
  • VSIG1:V-set and immunoglobulin domain containing 1 [Gene - OMIM - HGNC]
  • WDR44:WD repeat domain 44 [Gene - OMIM - HGNC]
  • XIAP:X-linked inhibitor of apoptosis [Gene - OMIM - HGNC]
  • XPNPEP2:X-prolyl aminopeptidase 2 [Gene - OMIM - HGNC]
  • XKRX:XK related X-linked [Gene - OMIM - HGNC]
  • ZIC3:Zic family member 3 [Gene - OMIM - HGNC]
  • ACTRT1:actin related protein T1 [Gene - OMIM - HGNC]
  • ACSL4:acyl-CoA synthetase long chain family member 4 [Gene - OMIM - HGNC]
  • ADGRG4:adhesion G protein-coupled receptor G4 [Gene - OMIM - HGNC]
  • AMOT:angiomotin [Gene - OMIM - HGNC]
  • AGTR2:angiotensin II receptor type 2 [Gene - OMIM - HGNC]
  • APLN:apelin [Gene - OMIM - HGNC]
  • AIFM1:apoptosis inducing factor mitochondria associated 1 [Gene - OMIM - HGNC]
  • ARMCX1:armadillo repeat containing X-linked 1 [Gene - OMIM - HGNC]
  • ARMCX2:armadillo repeat containing X-linked 2 [Gene - OMIM - HGNC]
  • ARMCX3:armadillo repeat containing X-linked 3 [Gene - OMIM - HGNC]
  • ARMCX4:armadillo repeat containing X-linked 4 [Gene - OMIM - HGNC]
  • ARMCX5:armadillo repeat containing X-linked 5 [Gene - OMIM - HGNC]
  • ARMCX6:armadillo repeat containing X-linked 6 [Gene - OMIM - HGNC]
  • ATG4A:autophagy related 4A cysteine peptidase [Gene - OMIM - HGNC]
  • BRS3:bombesin receptor subtype 3 [Gene - OMIM - HGNC]
  • BEX1:brain expressed X-linked 1 [Gene - OMIM - HGNC]
  • BEX2:brain expressed X-linked 2 [Gene - OMIM - HGNC]
  • BEX3:brain expressed X-linked 3 [Gene - OMIM - HGNC]
  • BEX4:brain expressed X-linked 4 [Gene - OMIM - HGNC]
  • BEX5:brain expressed X-linked 5 [Gene - OMIM - HGNC]
  • CAPN6:calpain 6 [Gene - OMIM - HGNC]
  • CT55:cancer/testis antigen 55 [Gene - OMIM - HGNC]
  • CT83:cancer/testis antigen 83 [Gene - OMIM - HGNC]
  • CT45A1:cancer/testis antigen family 45 member A1 [Gene - OMIM - HGNC]
  • CT45A2:cancer/testis antigen family 45 member A2 [Gene - OMIM - HGNC]
  • CT45A3:cancer/testis antigen family 45 member A3 [Gene - OMIM - HGNC]
  • CT45A5:cancer/testis antigen family 45 member A5 [Gene - OMIM - HGNC]
  • CT45A6:cancer/testis antigen family 45 member A6 [Gene - OMIM - HGNC]
  • CT47A10:cancer/testis antigen family 47 member A10 [Gene - OMIM - HGNC]
  • CT47A11:cancer/testis antigen family 47 member A11 [Gene - OMIM - HGNC]
  • CT47A12:cancer/testis antigen family 47 member A12 [Gene - HGNC]
  • CT47A1:cancer/testis antigen family 47 member A1 [Gene - OMIM - HGNC]
  • CT47A2:cancer/testis antigen family 47 member A2 [Gene - OMIM - HGNC]
  • CT47A3:cancer/testis antigen family 47 member A3 [Gene - OMIM - HGNC]
  • CT47A4:cancer/testis antigen family 47 member A4 [Gene - OMIM - HGNC]
  • CT47A5:cancer/testis antigen family 47 member A5 [Gene - OMIM - HGNC]
  • CT47A6:cancer/testis antigen family 47 member A6 [Gene - OMIM - HGNC]
  • CT47A7:cancer/testis antigen family 47 member A7 [Gene - OMIM - HGNC]
  • CT47A8:cancer/testis antigen family 47 member A8 [Gene - OMIM - HGNC]
  • CT47A9:cancer/testis antigen family 47 member A9 [Gene - OMIM - HGNC]
  • CT47B1:cancer/testis antigen family 47 member B1 [Gene - OMIM - HGNC]
  • CENPI:centromere protein I [Gene - OMIM - HGNC]
  • CDR1:cerebellar degeneration related 1 [Gene - OMIM - HGNC]
  • CHRDL1:chordin like 1 [Gene - OMIM - HGNC]
  • CXorf51A:chromosome X open reading frame 51A [Gene - HGNC]
  • CXorf51B:chromosome X open reading frame 51B [Gene - HGNC]
  • CXorf66:chromosome X open reading frame 66 [Gene - HGNC]
  • CLDN2:claudin 2 [Gene - OMIM - HGNC]
  • CSTF2:cleavage stimulation factor subunit 2 [Gene - OMIM - HGNC]
  • F9:coagulation factor IX [Gene - OMIM - HGNC]
  • CCDC160:coiled-coil domain containing 160 [Gene - HGNC]
  • COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
  • COL4A6:collagen type IV alpha 6 chain [Gene - OMIM - HGNC]
  • CUL4B:cullin 4B [Gene - OMIM - HGNC]
  • CNGA2:cyclic nucleotide gated channel subunit alpha 2 [Gene - OMIM - HGNC]
  • DOCK11:dedicator of cytokinesis 11 [Gene - OMIM - HGNC]
  • DIAPH2:diaphanous related formin 2 [Gene - OMIM - HGNC]
  • DCX:doublecortin [Gene - OMIM - HGNC]
  • DNAAF6:dynein axonemal assembly factor 6 [Gene - OMIM - HGNC]
  • DRP2:dystrophin related protein 2 [Gene - OMIM - HGNC]
  • ENOX2:ecto-NOX disulfide-thiol exchanger 2 [Gene - OMIM - HGNC]
  • EOLA1:endothelium and lymphocyte associated ASCH domain 1 [Gene - OMIM - HGNC]
  • EOLA2:endothelium and lymphocyte associated ASCH domain 2 [Gene - HGNC]
  • FAM199X:family with sequence similarity 199, X-linked [Gene - HGNC]
  • FATE1:fetal and adult testis expressed 1 [Gene - OMIM - HGNC]
  • FGF13:fibroblast growth factor 13 [Gene - OMIM - HGNC]
  • FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
  • FMR1:fragile X messenger ribonucleoprotein 1 [Gene - OMIM - HGNC]
  • GLA:galactosidase alpha [Gene - OMIM - HGNC]
  • GABRA3:gamma-aminobutyric acid type A receptor subunit alpha3 [Gene - OMIM - HGNC]
  • GABRE:gamma-aminobutyric acid type A receptor subunit epsilon [Gene - OMIM - HGNC]
  • GABRQ:gamma-aminobutyric acid type A receptor subunit theta [Gene - OMIM - HGNC]
  • GLUD2:glutamate dehydrogenase 2 [Gene - OMIM - HGNC]
  • GRIA3:glutamate ionotropic receptor AMPA type subunit 3 [Gene - OMIM - HGNC]
  • GPC3:glypican 3 [Gene - OMIM - HGNC]
  • GPC4:glypican 4 [Gene - OMIM - HGNC]
  • GUCY2F:guanylate cyclase 2F, retinal [Gene - OMIM - HGNC]
  • HSFX1:heat shock transcription factor family, X-linked 1 [Gene - HGNC]
  • HSFX2:heat shock transcription factor family, X-linked 2 [Gene - HGNC]
  • HS6ST2:heparan sulfate 6-O-sulfotransferase 2 [Gene - OMIM - HGNC]
  • HNRNPH2:heterogeneous nuclear ribonucleoprotein H2 [Gene - OMIM - HGNC]
  • HMGB3:high mobility group box 3 [Gene - OMIM - HGNC]
  • HPRT1:hypoxanthine phosphoribosyltransferase 1 [Gene - OMIM - HGNC]
  • IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]
  • IGSF1:immunoglobulin superfamily member 1 [Gene - OMIM - HGNC]
  • IRS4:insulin receptor substrate 4 [Gene - OMIM - HGNC]
  • INTS6L:integrator complex subunit 6 like [Gene - HGNC]
  • IL1RAPL2:interleukin 1 receptor accessory protein like 2 [Gene - OMIM - HGNC]
  • IL13RA1:interleukin 13 receptor subunit alpha 1 [Gene - OMIM - HGNC]
  • IL13RA2:interleukin 13 receptor subunit alpha 2 [Gene - OMIM - HGNC]
  • KLHL13:kelch like family member 13 [Gene - OMIM - HGNC]
  • LRCH2:leucine rich repeats and calponin homology domain containing 2 [Gene - HGNC]
  • LUZP4:leucine zipper protein 4 [Gene - OMIM - HGNC]
  • LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]
  • MAMLD1:mastermind like domain containing 1 [Gene - OMIM - HGNC]
  • MMGT1:membrane magnesium transporter 1 [Gene - OMIM - HGNC]
  • MIR105-1:microRNA 105-1 [Gene - OMIM - HGNC]
  • MIR105-2:microRNA 105-2 [Gene - OMIM - HGNC]
  • MIR106A:microRNA 106a [Gene - OMIM - HGNC]
  • MIR19B2:microRNA 19b-2 [Gene - OMIM - HGNC]
  • MIR224:microRNA 224 [Gene - OMIM - HGNC]
  • MIR424:microRNA 424 [Gene - OMIM - HGNC]
  • MIR448:microRNA 448 [Gene - OMIM - HGNC]
  • MIR503:microRNA 503 [Gene - OMIM - HGNC]
  • MIR506:microRNA 506 [Gene - OMIM - HGNC]
  • MIR508:microRNA 508 [Gene - OMIM - HGNC]
  • MIR509-1:microRNA 509-1 [Gene - OMIM - HGNC]
  • MIR509-3:microRNA 509-3 [Gene - OMIM - HGNC]
  • MIR510:microRNA 510 [Gene - OMIM - HGNC]
  • MID2:midline 2 [Gene - OMIM - HGNC]
  • MORF4L2:mortality factor 4 like 2 [Gene - OMIM - HGNC]
  • MOSPD1:motile sperm domain containing 1 [Gene - OMIM - HGNC]
  • MBNL3:muscleblind like splicing regulator 3 [Gene - OMIM - HGNC]
  • MTM1:myotubularin 1 [Gene - OMIM - HGNC]
  • MTMR1:myotubularin related protein 1 [Gene - OMIM - HGNC]
  • NXF2:nuclear RNA export factor 2 [Gene - OMIM - HGNC]
  • NXF2B:nuclear RNA export factor 2B [Gene - HGNC]
  • NXF3:nuclear RNA export factor 3 [Gene - OMIM - HGNC]
  • NXF5:nuclear RNA export factor 5 [Gene - OMIM - HGNC]
  • NXT2:nuclear transport factor 2 like export factor 2 [Gene - OMIM - HGNC]
  • NUP62CL:nucleoporin 62 C-terminal like [Gene - HGNC]
  • OR13H1:olfactory receptor family 13 subfamily H member 1 [Gene - HGNC]
  • PAK3:p21 (RAC1) activated kinase 3 [Gene - OMIM - HGNC]
  • PRPS1:phosphoribosyl pyrophosphate synthetase 1 [Gene - OMIM - HGNC]
  • PLAC1:placenta enriched 1 [Gene - OMIM - HGNC]
  • PLS3:plastin 3 [Gene - OMIM - HGNC]
  • KCNE5:potassium voltage-gated channel subfamily E regulatory subunit 5 [Gene - OMIM - HGNC]
  • PGRMC1:progesterone receptor membrane component 1 [Gene - OMIM - HGNC]
  • PRR32:proline rich 32 [Gene - HGNC]
  • PRRG3:proline rich and Gla domain 3 [Gene - OMIM - HGNC]
  • PSMD10:proteasome 26S subunit, non-ATPase 10 [Gene - OMIM - HGNC]
  • PLP1:proteolipid protein 1 [Gene - OMIM - HGNC]
  • PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
  • RTL4:retrotransposon Gag like 4 [Gene - HGNC]
  • RTL8A:retrotransposon Gag like 8A [Gene - HGNC]
  • RTL8B:retrotransposon Gag like 8B [Gene - HGNC]
  • RTL8C:retrotransposon Gag like 8C [Gene - OMIM - HGNC]
  • RTL9:retrotransposon Gag like 9 [Gene - OMIM - HGNC]
  • RPL36A:ribosomal protein L36a [Gene - OMIM - HGNC]
  • RPL39:ribosomal protein L39 [Gene - OMIM - HGNC]
  • RNF113A:ring finger protein 113A [Gene - OMIM - HGNC]
  • RNF128:ring finger protein 128 [Gene - OMIM - HGNC]
  • RIPPLY1:ripply transcriptional repressor 1 [Gene - OMIM - HGNC]
  • SAGE1:sarcoma antigen 1 [Gene - OMIM - HGNC]
  • SEPTIN6:septin 6 [Gene - OMIM - HGNC]
  • STK26:serine/threonine kinase 26 [Gene - OMIM - HGNC]
  • SERPINA7:serpin family A member 7 [Gene - OMIM - HGNC]
  • SMIM10:small integral membrane protein 10 [Gene - HGNC]
  • SLC25A14:solute carrier family 25 member 14 [Gene - OMIM - HGNC]
  • SLC25A43:solute carrier family 25 member 43 [Gene - OMIM - HGNC]
  • SLC25A53:solute carrier family 25 member 53 [Gene - OMIM - HGNC]
  • SLC25A5:solute carrier family 25 member 5 [Gene - OMIM - HGNC]
  • SLC6A14:solute carrier family 6 member 14 [Gene - OMIM - HGNC]
  • SLC9A6:solute carrier family 9 member A6 [Gene - OMIM - HGNC]
  • SOWAHD:sosondowah ankyrin repeat domain family member D [Gene - HGNC]
  • SPANXA1:sperm protein associated with the nucleus, X-linked, family member A1 [Gene - OMIM - HGNC]
  • SRPX2:sushi repeat containing protein X-linked 2 [Gene - OMIM - HGNC]
  • SYTL4:synaptotagmin like 4 [Gene - OMIM - HGNC]
  • TCP11X2:t-complex 11 family, X-linked 2 [Gene - HGNC]
  • TRMT2B:tRNA methyltransferase 2 homolog B [Gene - HGNC]
  • TENM1:teneurin transmembrane protein 1 [Gene - OMIM - HGNC]
  • TNMD:tenomodulin [Gene - OMIM - HGNC]
  • TEX13A:testis expressed 13A [Gene - OMIM - HGNC]
  • TEX13B:testis expressed 13B [Gene - OMIM - HGNC]
  • TSPAN6:tetraspanin 6 [Gene - OMIM - HGNC]
  • TMSB15A:thymosin beta 15A [Gene - OMIM - HGNC]
  • TMSB15B:thymosin beta 15B [Gene - OMIM - HGNC]
  • TCEAL1:transcription elongation factor A like 1 [Gene - OMIM - HGNC]
  • TCEAL2:transcription elongation factor A like 2 [Gene - HGNC]
  • TCEAL3:transcription elongation factor A like 3 [Gene - HGNC]
  • TCEAL4:transcription elongation factor A like 4 [Gene - HGNC]
  • TCEAL5:transcription elongation factor A like 5 [Gene - HGNC]
  • TCEAL6:transcription elongation factor A like 6 [Gene - HGNC]
  • TCEAL7:transcription elongation factor A like 7 [Gene - OMIM - HGNC]
  • TCEAL8:transcription elongation factor A like 8 [Gene - HGNC]
  • TCEAL9:transcription elongation factor A like 9 [Gene - HGNC]
  • TFDP3:transcription factor Dp family member 3 [Gene - OMIM - HGNC]
  • TRPC5:transient receptor potential cation channel subfamily C member 5 [Gene - OMIM - HGNC]
  • TIMM8A:translocase of inner mitochondrial membrane 8A [Gene - OMIM - HGNC]
  • TMEM164:transmembrane protein 164 [Gene - HGNC]
  • TMEM185A:transmembrane protein 185A [Gene - OMIM - HGNC]
  • TMEM255A:transmembrane protein 255A [Gene - HGNC]
  • TMEM31:transmembrane protein 31 [Gene - OMIM - HGNC]
  • TMEM35A:transmembrane protein 35A [Gene - HGNC]
  • UBE2A:ubiquitin conjugating enzyme E2 A [Gene - OMIM - HGNC]
  • UBE2NL:ubiquitin conjugating enzyme E2 N like (gene/pseudogene) [Gene - HGNC]
  • USP26:ubiquitin specific peptidase 26 [Gene - OMIM - HGNC]
  • VMA21:vacuolar ATPase assembly factor VMA21 [Gene - OMIM - HGNC]
  • VGLL1:vestigial like family member 1 [Gene - OMIM - HGNC]
  • ZCCHC12:zinc finger CCHC-type containing 12 [Gene - OMIM - HGNC]
  • ZCCHC18:zinc finger CCHC-type containing 18 [Gene - HGNC]
  • ZDHHC9:zinc finger DHHC-type palmitoyltransferase 9 [Gene - OMIM - HGNC]
  • ZBTB33:zinc finger and BTB domain containing 33 [Gene - OMIM - HGNC]
  • ZMAT1:zinc finger matrin-type 1 [Gene - OMIM - HGNC]
  • ZNF280C:zinc finger protein 280C [Gene - HGNC]
  • ZNF449:zinc finger protein 449 [Gene - OMIM - HGNC]
  • ZNF75D:zinc finger protein 75D [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xq21.33-28
Genomic location:
ChrX: 96499476 - 151870013 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3
HGVS:
    Links:
    dbVar: nssv13639953; dbVar: nsv2775378
    Observations:
    1

    Condition(s)

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

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000585497ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Uncertain significance
    (Jun 23, 2014)     		unknownclinical testing

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

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    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, SCV000585497.1

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

    Last Updated: May 7, 2024