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Variant : CV163688 (GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3) Homo sapiens

Symbol: CV163688
Name: GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3
Condition: See cases [RCV000142134]
Clinical Significance: pathogenic
Last Evaluated: 10/17/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCB7   ACE2   ACOT9   ACSL4   ADGRG2   AGTR2   AKAP17A   AKAP4   ALAS2   ALG13   AMELX   AMER1   AMMECR1   AMOT   ANOS1   AP1S2   APEX2   APOO   APOOL   AR   ARAF   ARHGAP6   ARHGEF9   ARHGEF9-IT1   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ARR3   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ARX   ASB11   ASB12   ASB9   ASMT   ASMTL   ASMTL-AS1   ATG4A   ATP6AP2   ATP7A   ATRX   ATXN3L   AWAT1   AWAT2   BCLAF3   BCOR   BEND2   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   BMP15   BMX   BRWD3   BTK   CA5B   CACNA1F   CAPN6   CASK   CBLL2   CCDC120   CCDC22   CCNB3   CD99   CDK16   CDKL5   CDX4   CENPI   CENPVL1   CENPVL2   CENPVL3   CFAP47   CFP   CHIC1   CHM   CHRDL1   CHST7   CITED1   CLCN4   CLCN5   CLDN2   CLDN34   CLTRN   CNKSR2   COL4A5   COL4A6   COX7B   CPXCR1   CRLF2   CSF2RA   CSTF2   CT83   CTPS2   CXCR3   CXorf21   CXorf38   CXorf49   CXorf49B   CXorf58   CXorf65   CYBB   CYLC1   CYSLTR1   DACH2   DANT1   DANT2   DCAF8L1   DCAF8L2   DCX   DDX3X   DDX53   DGAT2L6   DGKK   DHRSX   DIAPH2   DIAPH2-AS1   DIPK2B   DLG3   DLG3-AS1   DMD   DMRTC1   DMRTC1B   DOCK11   DRP2   DUSP21   DYNLT3   EBP   EDA   EDA2R   EFHC2   EFNB1   EGFL6   EIF1AX   EIF1AX-AS1   EIF2S3   ELK1   ERAS   ERCC6L   ESX1   EZHIP   FAAH2   FAM104B   FAM120C   FAM133A   FAM155B   FAM156A   FAM156B   FAM199X   FAM226A   FAM226B   FAM236A   FAM236B   FAM236C   FAM236D   FAM47A   FAM47B   FAM47C   FAM9A   FAM9B   FAM9C   FANCB   FGD1   FGF16   FLICR   FLJ44635   FOXO4   FOXP3   FOXR2   FRMPD3   FRMPD3-AS1   FRMPD4   FTHL17   FTHL18   FTSJ1   FTX   FUNDC1   GAGE1   GAGE10   GAGE12B   GAGE12C   GAGE12D   GAGE12E   GAGE12F   GAGE12G   GAGE12H   GAGE12I   GAGE12J   GAGE13   GAGE2A   GAGE2B   GAGE2C   GAGE2D   GAGE2E   GAGE8   GATA1   GCNA   GDPD2   GEMIN8   GJB1   GK   GLA   GLOD5   GLRA2   GNL3L   GPKOW   GPM6B   GPR143   GPR173   GPR174   GPR34   GPR82   GPRASP1   GPRASP2   GRIPAP1   GRPR   GSPT2   GTPBP6   GUCY2F   GYG2   H2AP   H2BW1   H2BW2   HCCS   HDAC6   HDAC8   HDX   HEPH   HMGN5   HNRNPH2   HSD17B10   HTR2C   HUWE1   IGBP1   IL13RA1   IL13RA2   IL1RAPL1   IL1RAPL2   IL2RG   IL3RA   INE1   INE2   IQSEC2   IRS4   ITGB1BP2   ITIH6   ITM2A   JADE3   JPX   KANTR   KCND1   KCNE5   KDM5C   KDM6A   KIF4A   KLF8   KLHL13   KLHL15   KLHL34   KLHL4   KRBOX4   LANCL3   LAS1L   LHFPL1   LINC00102   LINC00106   LINC00269   LINC00630   LINC00685   LINC00891   LINC01186   LINC01203   LINC01204   LINC01278   LINC01281   LINC01282   LINC01284   LINC01285   LINC01456   LINC01496   LINC01545   LINC01546   LINC01560   LINC02154   LINC02589   LINC02595   LINC02601   LPAR4   LRCH2   LUZP4   MAGEB1   MAGEB10   MAGEB16   MAGEB17   MAGEB18   MAGEB2   MAGEB3   MAGEB4   MAGEB5   MAGEB6   MAGED1   MAGED2   MAGED4   MAGED4B   MAGEE1   MAGEE2   MAGEH1   MAGIX   MAGT1   MAOA   MAOB   MAP3K15   MAP7D2   MBTPS2   MED12   MED14   MED14OS   MID1   MID1IP1   MID1IP1-AS1   MID2   MIR1264   MIR1277   MIR1298   MIR1321   MIR1468   MIR1587   MIR188   MIR1911   MIR1912   MIR221   MIR222   MIR223   MIR23C   MIR325   MIR325HG   MIR361   MIR362   MIR3690   MIR374A   MIR374B   MIR374C   MIR384   MIR3915   MIR3937   MIR3978   MIR421   MIR4328   MIR4329   MIR448   MIR4536-1   MIR4536-2   MIR4666B   MIR4767   MIR4768   MIR4769   MIR4770   MIR500A   MIR500B   MIR501   MIR502   MIR532   MIR545   MIR548AJ2   MIR548AM   MIR548AN   MIR548AX   MIR548F5   MIR548I4   MIR548M   MIR6086   MIR6089   MIR6134   MIR651   MIR652   MIR660   MIR676   MIR6857   MIR6894   MIR6895   MIR764   MIR8088   MIR98   MIRLET7F2   MORC4   MORF4L2   MORF4L2-AS1   MOSPD2   MPC1L   MSL3   MSN   MTMR8   MTRNR2L10   MXRA5   NAP1L2   NAP1L3   NBDY   NCBP2L   NDP   NDP-AS1   NDUFB11   NEXMIF   NHS   NHS-AS1   NHSL2   NLGN3   NLGN4X   NLRP2B   NONO   NOX1   NR0B1   NRK   NUDT10   NUDT11   NUP62CL   NXF2   NXF2B   NXF3   NXF5   NXT2   NYX   OFD1   OGT   OPHN1   OTC   OTUD5   OTUD6A   P2RY10   P2RY4   P2RY8   PABPC1L2A   PABPC1L2B   PABPC1L2B-AS1   PABPC5   PABPC5-AS1   PAGE1   PAGE2   PAGE2B   PAGE3   PAGE4   PAGE5   PAK3   PBDC1   PCDH11X   PCDH19   PCSK1N   PCYT1B   PCYT1B-AS1   PDHA1   PDK3   PDZD11   PFKFB1   PGAM4   PGK1   PHEX   PHEX-AS1   PHF8   PHKA1   PHKA1-AS1   PHKA2   PHKA2-AS1   PIGA   PIH1D3   PIM2   PIN4   PINCR   PIR   PJA1   PLCXD1   PLP1   PLP2   PLS3   PLS3-AS1   PNPLA4   POF1B   POLA1   PORCN   POU3F4   PPEF1   PPEF1-AS1   PPP1R2C   PPP1R3F   PPP2R3B   PPP4R3C   PQBP1   PRAF2   PRDX4   PRICKLE3   PRKX   PRKX-AS1   PRPS1   PRPS2   PRRG1   PSMD10   PTCHD1   PTCHD1-AS   PUDP   PWWP3B   RAB40A   RAB40AL   RAB41   RAB9A   RAB9B   RADX   RAI2   RBBP7   RBM10   RBM3   RBM41   RBMXL3   REPS2   RGN   RIBC1   RIPPLY1   RLIM   RNF128   RP2   RPA4   RPGR   RPL36A   RPL36A-HNRNPH2   RPS4X   RPS6KA3   RPS6KA6   RRAGB   RS1   RTL3   RTL4   RTL5   RTL9   S100G   SAT1   SATL1   SCARNA23   SCARNA9L   SCML1   SCML2   SERPINA7   SERTM2   SH3BGRL   SH3KBP1   SHOX   SHROOM2   SHROOM4   SLC16A2   SLC25A53   SLC25A6   SLC35A2   SLC38A5   SLC6A14   SLC7A3   SLC9A7   SMC1A   SMPX   SMS   SNORA109   SNORA11   SNORA11C   SNORA11D   SNORA11E   SNORA11G   SNORA35   SNORA35B   SNORA48B   SNORD3E   SNORD96B   SNX12   SPACA5   SPACA5B   SPANXN5   SPIN2A   SPIN2B   SPIN3   SPIN4   SRPX   SRPX2   SSX1   SSX2   SSX2B   SSX3   SSX4   SSX4B   SSX5   SSX7   STARD8   STS   SUPT20HL1   SUPT20HL2   SUV39H1   SYAP1   SYN1   SYP   SYP-AS1   SYTL4   SYTL5   TAB3   TAB3-AS1   TAF1   TAF7L   TAF9B   TBC1D25   TBC1D8B   TBL1X   TBX22   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCEANC   TCP11X1   TCP11X2   TENT5D   TEX11   TEX13A   TEX13B   TFE3   TGIF2LX   TIMM17B   TIMM8A   TIMP1   TLR7   TLR8   TLR8-AS1   TMEM164   TMEM31   TMEM35A   TMEM47   TMSB15A   TMSB15B   TMSB15B-AS1   TMSB4X   TNMD   TRAPPC2   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   TRMT2B   TRO   TRPC5   TRPC5OS   TRV-TAC1-2   TSC22D3   TSIX   TSPAN6   TSPAN7   TSPYL2   TSR2   TXLNG   UBA1   UBQLN2   UPRT   USP11   USP27X   USP27X-AS1   USP51   USP9X   UXT   UXT-AS1   VCX   VCX2   VCX3A   VCX3B   VEGFD   VSIG1   VSIG4   WAS   WDR13   WDR44   WDR45   WNK3   WWC3   XACT   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5   XG   XIST   XK   XKRX   YIPF6   YY2   ZBED1   ZC3H12B   ZC4H2   ZCCHC12   ZCCHC13   ZCCHC18   ZDHHC15   ZFX   ZFX-AS1   ZMAT1   ZMYM3   ZNF157   ZNF182   ZNF41   ZNF630   ZNF630-AS1   ZNF674   ZNF674-AS1   ZNF711   ZNF81   ZRSR2   ZXDA   ZXDB  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_251879)_(118847157_?)dup
NC_000023.10:g.(?_168546)_(117981120_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X251,879 - 118,847,157CLINVAR
GRCh37X168,546 - 117,981,120CLINVAR
Build 36X108,546 - 117,865,148CLINVAR
Cytogenetic MapXXp22.33-q24CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489653
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.