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Variant : CV157434 (GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2) Homo sapiens

Symbol: CV157434
Name: GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2
Condition: See cases [RCV000136841]
Clinical Significance: pathogenic
Last Evaluated: 10/14/2010
Review Status: classified by single submitter|no assertion criteria provided
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   ARHGEF9-IT1   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ARR3   ARSD   ARSD-AS1   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   CENPVL1   CENPVL2   CENPVL3   CETN2   CFAP47   CFP   CHIC1   CHM   CHRDL1   CHST7   CITED1   CLCN4   CLCN5   CLDN2   CLDN34   CLIC2   CLTRN   CMC4   CNGA2   CNKSR2   COL4A5   COL4A6   COX7B   CPXCR1   CSAG1   CSAG2   CSAG3   CSTF2   CT45A1   CT45A10   CT45A2   CT45A3   CT45A5   CT45A6   CT45A7   CT45A8   CT45A9   CT47A1   CT47A10   CT47A11   CT47A12   CT47A2   CT47A3   CT47A4   CT47A5   CT47A6   CT47A7   CT47A8   CT47A9   CT47B1   CT55   CT83   CTAG1A   CTAG1B   CTAG2   CTPS2   CUL4B   CXCR3   CXorf21   CXorf38   CXorf40A   CXorf40B   CXorf49   CXorf49B   CXorf51A   CXorf51B   CXorf56   CXorf58   CXorf65   CXorf66   CYBB   CYLC1   CYSLTR1   DACH2   DANT1   DANT2   DCAF12L1   DCAF12L2   DCAF8L1   DCAF8L2   DCX   DDX3X   DDX53   DGAT2L6   DGKK   DIAPH2   DIAPH2-AS1   DIPK2B   DKC1   DLG3   DLG3-AS1   DMD   DMRTC1   DMRTC1B   DNASE1L1   DOCK11   DRP2   DUSP21   DUSP9   DYNLT3   EBP   EDA   EDA2R   EFHC2   EFNB1   EGFL6   EIF1AX   EIF1AX-AS1   EIF2S3   ELF4   ELK1   EMD   ENOX2   ERAS   ERCC6L   ESX1   ETDA   ETDB   ETDC   EZHIP   F8   F8A1   F8A2   F8A3   F9   FAAH2   FAM104B   FAM120C   FAM122B   FAM122C   FAM133A   FAM155B   FAM156A   FAM156B   FAM199X   FAM223A   FAM223B   FAM226A   FAM226B   FAM236A   FAM236B   FAM236C   FAM236D   FAM3A   FAM47A   FAM47B   FAM47C   FAM50A   FAM9A   FAM9B   FAM9C   FANCB   FATE1   FGD1   FGF13   FGF13-AS1   FGF16   FHL1   FIRRE   FLICR   FLJ44635   FLNA   FMR1   FMR1-AS1   FMR1NB   FOXO4   FOXP3   FOXR2   FRMD7   FRMPD3   FRMPD3-AS1   FRMPD4   FTHL17   FTHL18   FTSJ1   FTX   FUNDC1   FUNDC2   G6PD   GAB3   GABRA3   GABRE   GABRQ   GAGE1   GAGE10   GAGE12B   GAGE12C   GAGE12D   GAGE12E   GAGE12F   GAGE12G   GAGE12H   GAGE12I   GAGE12J   GAGE13   GAGE2A   GAGE2B   GAGE2C   GAGE2D   GAGE2E   GAGE8   GATA1   GCNA   GDI1   GDPD2   GEMIN8   GJB1   GK   GLA   GLOD5   GLRA2   GLUD2   GNL3L   GPC3   GPC3-AS1   GPC4   GPKOW   GPM6B   GPR101   GPR119   GPR143   GPR173   GPR174   GPR34   GPR50   GPR50-AS1   GPR82   GPRASP1   GPRASP2   GRIA3   GRIPAP1   GRPR   GSPT2   GUCY2F   GYG2   H2AB1   H2AB2   H2AB3   H2AP   H2BW1   H2BW2   HAUS7   HCCS   HCFC1   HCFC1-AS1   HDAC6   HDAC8   HDX   HEPH   HMGB3   HMGN5   HNRNPH2   HPRT1   HS6ST2   HS6ST2-AS1   HSD17B10   HSFX1   HSFX2   HSFX3   HSFX4   HTATSF1   HTR2C   HUWE1   IDH3G   IDS   IGBP1   IGSF1   IKBKG   IL13RA1   IL13RA2   IL1RAPL1   IL1RAPL2   IL2RG   INE1   INE2   INTS6L   INTS6L-AS1   IQSEC2   IRAK1   IRS4   ITGB1BP2   ITIH6   ITM2A   JADE3   JPX   KANTR   KCND1   KCNE5   KDM5C   KDM6A   KIAA1210   KIF4A   KLF8   KLHL13   KLHL15   KLHL34   KLHL4   KRBOX4   L1CAM   LAGE3   LAMP2   LANCL3   LAS1L   LDOC1   LHFPL1   LINC00269   LINC00629   LINC00630   LINC00632   LINC00850   LINC00891   LINC00892   LINC00893   LINC00894   LINC01186   LINC01201   LINC01203   LINC01204   LINC01278   LINC01281   LINC01282   LINC01284   LINC01285   LINC01402   LINC01456   LINC01496   LINC01545   LINC01546   LINC01560   LINC02154   LINC02243   LINC02589   LINC02595   LINC02601   LONRF3   LPAR4   LRCH2   LUZP4   MAGEA1   MAGEA10   MAGEA11   MAGEA12   MAGEA2   MAGEA2B   MAGEA3   MAGEA4   MAGEA4-AS1   MAGEA5   MAGEA6   MAGEA8   MAGEA8-AS1   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   MED14OS   MID1   MID1IP1   MID1IP1-AS1   MID2   MIR105-1   MIR105-2   MIR106A   MIR1184-1   MIR1184-2   MIR1184-3   MIR1264   MIR1277   MIR1298   MIR1321   MIR1468   MIR1587   MIR188   MIR18B   MIR1911   MIR1912   MIR19B2   MIR20B   MIR2114   MIR221   MIR222   MIR223   MIR224   MIR23C   MIR3202-1   MIR3202-2   MIR320D2   MIR325   MIR325HG   MIR361   MIR362   MIR363   MIR3672   MIR374A   MIR374B   MIR374C   MIR384   MIR3915   MIR3937   MIR3978   MIR421   MIR424   MIR4328   MIR4329   MIR4330   MIR448   MIR450A1   MIR450A2   MIR450B   MIR452   MIR4536-1   MIR4536-2   MIR4666B   MIR4767   MIR4768   MIR4769   MIR4770   MIR500A   MIR500B   MIR501   MIR502   MIR503   MIR503HG   MIR504   MIR505   MIR506   MIR507   MIR508   MIR509-1   MIR509-2   MIR509-3   MIR510   MIR513A1   MIR513A2   MIR513B   MIR513C   MIR514A1   MIR514A2   MIR514A3   MIR514B   MIR532   MIR542   MIR545   MIR548AJ2   MIR548AM   MIR548AN   MIR548AX   MIR548F5   MIR548I4   MIR548M   MIR6086   MIR6134   MIR651   MIR652   MIR660   MIR664B   MIR676   MIR6857   MIR6858   MIR6894   MIR6895   MIR718   MIR764   MIR766   MIR767   MIR8088   MIR888   MIR890   MIR891A   MIR891B   MIR892A   MIR892B   MIR892C   MIR92A2   MIR934   MIR98   MIRLET7F2   MMGT1   MORC4   MORF4L2   MORF4L2-AS1   MOSPD1   MOSPD2   MPC1L   MPP1   MSL3   MSN   MTCP1   MTM1   MTMR1   MTMR8   MTRNR2L10   MXRA5   NAA10   NAP1L2   NAP1L3   NBDY   NCBP2L   NDP   NDP-AS1   NDUFA1   NDUFB11   NEXMIF   NHS   NHS-AS1   NHSL2   NKAP   NKRF   NLGN3   NLGN4X   NLRP2B   NONO   NOX1   NR0B1   NRK   NSDHL   NUDT10   NUDT11   NUP62CL   NXF2   NXF2B   NXF3   NXF5   NXT2   NYX   OCRL   OFD1   OGT   OPHN1   OPN1LW   OPN1MW   OPN1MW2   OPN1MW3   OR13H1   OTC   OTUD5   OTUD6A   P2RY10   P2RY4   PABPC1L2A   PABPC1L2B   PABPC1L2B-AS1   PABPC5   PABPC5-AS1   PAGE1   PAGE2   PAGE2B   PAGE3   PAGE4   PAGE5   PAK3   PASD1   PBDC1   PCDH11X   PCDH19   PCSK1N   PCYT1B   PCYT1B-AS1   PDHA1   PDK3   PDZD11   PDZD4   PFKFB1   PGAM4   PGK1   PGRMC1   PHEX   PHEX-AS1   PHF6   PHF8   PHKA1   PHKA1-AS1   PHKA2   PHKA2-AS1   PIGA   PIH1D3   PIM2   PIN4   PINCR   PIR   PJA1   PLAC1   PLP1   PLP2   PLS3   PLS3-AS1   PLXNA3   PLXNB3   PNCK   PNMA3   PNMA5   PNMA6A   PNMA6E   PNMA6F   PNPLA4   POF1B   POLA1   PORCN   POU3F4   PPEF1   PPEF1-AS1   PPP1R2C   PPP1R3F   PPP4R3C   PQBP1   PRAF2   PRDX4   PRICKLE3   PRKX   PRKX-AS1   PRPS1   PRPS2   PRR32   PRRG1   PRRG3   PSMD10   PTCHD1   PTCHD1-AS   PUDP   PWWP3B   RAB33A   RAB39B   RAB40A   RAB40AL   RAB41   RAB9A   RAB9B   RADX   RAI2   RAP2C   RAP2C-AS1   RBBP7   RBM10   RBM3   RBM41   RBMX   RBMX2   RBMXL3   RENBP   REPS2   RGN   RHOXF1   RHOXF1-AS1   RHOXF2   RHOXF2B   RIBC1   RIPPLY1   RLIM   RNF113A   RNF128   RP2   RPA4   RPGR   RPL10   RPL36A   RPL36A-HNRNPH2   RPL39   RPS4X   RPS6KA3   RPS6KA6   RRAGB   RS1   RTL3   RTL4   RTL5   RTL8A   RTL8B   RTL8C   RTL9   S100G   SAGE1   SASH3   SAT1   SATL1   SCARNA23   SCARNA9L   SCML1   SCML2   SEPTIN6   SERPINA7   SERTM2   SH2D1A   SH3BGRL   SH3KBP1   SHROOM2   SHROOM4   SLC10A3   SLC16A2   SLC25A14   SLC25A43   SLC25A5   SLC25A5-AS1   SLC25A53   SLC35A2   SLC38A5   SLC6A14   SLC6A8   SLC7A3   SLC9A6   SLC9A7   SLITRK2   SLITRK4   SMARCA1   SMC1A   SMIM10   SMIM10L2A   SMIM10L2B   SMIM10L2B-AS1   SMIM9   SMPX   SMS   SNORA109   SNORA11   SNORA11C   SNORA11D   SNORA11E   SNORA11G   SNORA35   SNORA35B   SNORA36A   SNORA48B   SNORA56   SNORA69   SNORA70   SNORD3E   SNORD61   SNORD96B   SNX12   SOWAHD   SOX3   SPACA5   SPACA5B   SPANXA1   SPANXA2   SPANXA2-OT1   SPANXB1   SPANXC   SPANXD   SPANXN1   SPANXN2   SPANXN3   SPANXN4   SPANXN5   SPIN2A   SPIN2B   SPIN3   SPIN4   SRPK3   SRPX   SRPX2   SSR4   SSX1   SSX2   SSX2B   SSX3   SSX4   SSX4B   SSX5   SSX7   STAG2   STARD8   STK26   STS   SUPT20HL1   SUPT20HL2   SUV39H1   SYAP1   SYN1   SYP   SYP-AS1   SYTL4   SYTL5   TAB3   TAB3-AS1   TAF1   TAF7L   TAF9B   TAZ   TBC1D25   TBC1D8B   TBL1X   TBX22   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCEANC   TCP11X1   TCP11X2   TENM1   TENT5D   TEX11   TEX13A   TEX13B   TEX13C   TEX13D   TEX28   TFDP3   TFE3   TGIF2LX   THOC2   TIMM17B   TIMM8A   TIMP1   TKTL1   TLR7   TLR8   TLR8-AS1   TMEM164   TMEM185A   TMEM187   TMEM255A   TMEM31   TMEM35A   TMEM47   TMLHE   TMLHE-AS1   TMSB15A   TMSB15B   TMSB15B-AS1   TMSB4X   TNMD   TRAPPC2   TREX2   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   TRMT2B   TRO   TRPC5   TRPC5OS   TRV-TAC1-2   TSC22D3   TSIX   TSPAN6   TSPAN7   TSPYL2   TSR2   TXLNG   UBA1   UBE2A   UBE2NL   UBL4A   UBQLN2   UPF3B   UPRT   USP11   USP26   USP27X   USP27X-AS1   USP51   USP9X   UTP14A   UXT   UXT-AS1   VBP1   VCX   VCX2   VCX3A   VCX3B   VEGFD   VGLL1   VMA21   VSIG1   VSIG4   WAS   WDR13   WDR44   WDR45   WNK3   WWC3   XACT   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5   XG   XIAP   XIST   XK   XKRX   XPNPEP2   YIPF6   YY2   ZBTB33   ZC3H12B   ZC4H2   ZCCHC12   ZCCHC13   ZCCHC18   ZDHHC15   ZDHHC9   ZFP92   ZFX   ZFX-AS1   ZIC3   ZMAT1   ZMYM3   ZNF157   ZNF182   ZNF185   ZNF275   ZNF280C   ZNF41   ZNF449   ZNF630   ZNF630-AS1   ZNF674   ZNF674-AS1   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.(?_2782275)_(155611794_?)dup
NC_000023.10:g.(?_2700316)_(154785891_?)dup
NC_000023.9:g.(?_2710316)_(154494649_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X2,782,275 - 155,611,794CLINVAR
GRCh37X2,700,316 - 154,785,891 (+)CLINVAR
Build 36X2,710,316 - 154,494,649CLINVAR
Cytogenetic MapXXp22.33-q28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484402
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.