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Variant : CV73779 (GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3) Homo sapiens

Symbol: CV73779
Name: GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3
Condition: Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter
Related Genes: ABCB7   ABCD1   ACE2   ACOT9   ACSL4   ACTRT1   ADGRG2   ADGRG4   AFF2   AGTR2   AIFM1   AKAP14   AKAP4   ALAS2   ALG13   AMELX   AMER1   AMMECR1   AMOT   ANOS1   AP1S2   APEX2   APLN   APOO   APOOL   AR   ARAF   ARHGAP36   ARHGAP4   ARHGAP6   ARHGEF6   ARHGEF9   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ARR3   ARSD   ARSF   ARSH   ARSL   ARX   ASB11   ASB12   ASB9   ATG4A   ATP11C   ATP1B4   ATP2B3   ATP6AP1   ATP6AP2   ATP7A   ATRX   ATXN3L   AVPR2   AWAT1   AWAT2   BCAP31   BCLAF3   BCOR   BCORL1   BEND2   BEX1   BEX2   BEX3   BEX4   BEX5   BGN   BHLHB9   BMP15   BMX   BRCC3   BRS3   BRWD3   BTK   C1GALT1C1   CA5B   CACNA1F   CAPN6   CASK   CBLL2   CCDC120   CCDC160   CCDC22   CCNB3   CCNQ   CD40LG   CD99L2   CDK16   CDKL5   CDR1   CDX4   CENPI   CETN2   CFAP47   CFP   CHIC1   CHM   CHRDL1   CHST7   CITED1   CLCN4   CLCN5   CLDN2   CLIC2   CLTRN   CMC4   CNGA2   CNKSR2   COL4A5   COL4A6   COX7B   CPXCR1   CSAG1   CSAG3   CSTF2   CT45A1   CT45A2   CT45A3   CT45A5   CT45A6   CT47A1   CT47A10   CT47A11   CT47A12   CT47A2   CT47A3   CT47A4   CT47A5   CT47A6   CT47A7   CT47A8   CT47A9   CT47B1   CT55   CT83   CTAG1A   CTAG1B   CTAG2   CTPS2   CUL4B   CXCR3   CXorf21   CXorf38   CXorf49   CXorf49B   CXorf51A   CXorf51B   CXorf56   CXorf58   CXorf65   CXorf66   CYBB   CYLC1   CYSLTR1   DACH2   DCAF12L1   DCAF12L2   DCAF8L1   DCAF8L2   DCX   DDX3X   DDX53   DGAT2L6   DGKK   DIAPH2   DIPK2B   DKC1   DLG3   DMD   DMRTC1   DMRTC1B   DNAAF6   DNASE1L1   DOCK11   DRP2   DUSP21   DUSP9   DYNLT3   EBP   EDA   EDA2R   EFHC2   EFNB1   EGFL6   EIF1AX   EIF2S3   ELF4   ELK1   EMD   ENOX2   EOLA1   EOLA2   ERAS   ERCC6L   ESX1   F8   F8A1   F8A2   F8A3   F9   FAAH2   FAM104B   FAM120C   FAM122B   FAM122C   FAM133A   FAM155B   FAM156A   FAM156B   FAM199X   FAM3A   FAM47A   FAM47B   FAM47C   FAM50A   FAM9A   FAM9B   FAM9C   FANCB   FATE1   FGD1   FGF13   FGF16   FHL1   FLNA   FMR1   FMR1-AS1   FMR1NB   FOXO4   FOXP3   FOXR2   FRMD7 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KLHL4   KRBOX4   L1CAM   LAGE3   LAMP2   LANCL3   LAS1L   LDOC1   LHFPL1   LONRF3   LPAR4   LRCH2   LUZP4   MAGEA1   MAGEA10   MAGEA11   MAGEA12   MAGEA2   MAGEA2B   MAGEA3   MAGEA4   MAGEA5   MAGEA6   MAGEA8   MAGEA9   MAGEA9B   MAGEB1   MAGEB10   MAGEB16   MAGEB17   MAGEB18   MAGEB2   MAGEB3   MAGEB4   MAGEB5   MAGEB6   MAGEC1   MAGEC2   MAGEC3   MAGED1   MAGED2   MAGED4   MAGED4B   MAGEE1   MAGEE2   MAGEH1   MAGIX   MAGT1   MAMLD1   MAOA   MAOB   MAP3K15   MAP7D2   MAP7D3   MBNL3   MBTPS2   MCF2   MCTS1   MECP2   MED12   MED14   MID1   MID1IP1   MID2   MIR105-1   MIR105-2   MIR106A   MIR19B2   MIR221   MIR222   MIR223   MIR224   MIR424   MIR448   MIR502   MIR503   MIR506   MIR508   MIR509-1   MIR509-3   MIR510   MIR98   MIRLET7F2   MMGT1   MORC4   MORF4L2   MOSPD1   MOSPD2   MPC1L   MPP1   MSL3   MSN   MTCP1   MTM1   MTMR1   MTMR8   MTRNR2L10   MXRA5   MYCLP1   NAA10   NAP1L2   NAP1L3   NDP   NDUFA1   NDUFB11   NEXMIF   NHS   NHSL2   NKAP   NKRF   NLGN3   NLGN4X   NONO   NOX1   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RPL36A   RPL36A-HNRNPH2   RPL39   RPS4X   RPS6KA3   RPS6KA6   RRAGB   RS1   RTL3   RTL4   RTL5   RTL8A   RTL8B   RTL8C   RTL9   S100G   SAGE1   SASH3   SAT1   SATL1   SCML1   SCML2   SEPTIN6   SERPINA7   SH2D1A   SH3BGRL   SH3KBP1   SHROOM2   SHROOM4   SLC10A3   SLC16A2   SLC25A14   SLC25A43   SLC25A5   SLC25A53   SLC35A2   SLC38A5   SLC6A14   SLC6A8   SLC7A3   SLC9A6   SLC9A7   SLITRK2   SLITRK4   SMARCA1   SMC1A   SMIM10   SMIM9   SMPX   SMS   SNORA11   SNX12   SOWAHD   SOX3   SPACA5   SPACA5B   SPANXA1   SPANXA2   SPANXB1   SPANXC   SPANXD   SPANXN1   SPANXN2   SPANXN3   SPANXN4   SPANXN5   SPIN2A   SPIN2B   SPIN3   SPIN4   SRPK3   SRPX   SRPX2   SSR4   SSX1   SSX2   SSX2B   SSX3   SSX4   SSX4B   SSX5   SSX6P   SSX7   SSX8P   SSX9P   STAG2   STARD8   STK26   STS   SUPT20HL1   SUPT20HL2   SUV39H1   SYAP1   SYN1   SYP   SYTL4   SYTL5   TAB3   TAF1   TAF7L   TAF9B   TAZ   TBC1D25   TBC1D8B   TBL1X   TBX22   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCEANC   TCP11X2   TENM1   TENT5D   TEX11   TEX13A   TEX13B   TEX28   TFDP3   TFE3   TGIF2LX   THOC2   TIMM17B   TIMM8A   TIMP1   TKTL1   TLR7   TLR8   TMEM164   TMEM185A   TMEM187   TMEM255A   TMEM31   TMEM35A   TMEM47   TMLHE   TMSB15A   TMSB15B   TMSB4X   TNMD   TRAPPC2   TREX2   TRMT2B   TRO   TRPC5   TRPC5OS   TSC22D3   TSIX   TSPAN6   TSPAN7   TSPYL2   TSR2   TXLNG   UBA1   UBE2A   UBE2NL   UBL4A   UBQLN2   UPF3B   UPRT   USP11   USP26   USP27X   USP51   USP9X   UTP14A   UXT   VBP1   VCX   VCX2   VCX3A   VCX3B   VEGFD   VGLL1   VMA21   VSIG1   VSIG4   WAS   WDR13   WDR44   WDR45   WNK3   WWC3   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5   XG   XIAP   XIST   XK   XKRX   XPNPEP2   YIPF6   YY2   ZBTB33   ZC3H12B   ZC4H2   ZCCHC12   ZCCHC13   ZCCHC18   ZDHHC15   ZDHHC9   ZFP92   ZFX   ZIC3   ZMAT1   ZMYM3   ZNF157   ZNF182   ZNF185   ZNF275   ZNF280C   ZNF41   ZNF449   ZNF630   ZNF674   ZNF711   ZNF75D   ZNF81   ZRSR2   ZXDA   ZXDB  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_26102)_(155996431_?)dup
NC_000023.10:g.(?_76102)_(155226096_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X26,102 - 155,996,431CLINVAR
GRCh37X76,102 - 155,226,096CLINVAR
Cytogenetic MapXXp22.33-q28CLINVAR
Trait Synonyms: multiple congenital anomalies; Short stature; unexplained developmental delay/intellectual disability
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.


Annotation    (Toggle Annotation Detail/Summary View)


Additional Information

  
RGD Object Information
RGD ID: 8619953
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2014-12-02
Status: ACTIVE



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