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Variant : CV436386 (GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1) Homo sapiens

Symbol: CV436386
Name: GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1
Condition: See cases [RCV000510382]
Clinical Significance: pathogenic
Last Evaluated: 06/23/2014
Review Status: no assertion criteria provided
Related Genes: ABCB7   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   ARHGAP6   ARHGEF6   ARHGEF9   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   ATP6AP2   ATP7A   ATRX   ATXN3L   AWAT1   AWAT2   BCLAF3   BCOR   BCORL1   BEND2   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   BMP15   BMX   BRS3   BRWD3   BTK   C1GALT1C1   CA5B   CACNA1F   CAPN6   CASK   CBLL2   CCDC120   CCDC160   CCDC22   CCNB3   CD40LG   CD99L2   CDK16   CDKL5   CDR1   CDX4   CENPI   CFAP47   CFP   CHIC1   CHM   CHRDL1   CHST7   CITED1   CLCN4   CLCN5   CLDN2   CLTRN   CNGA2   CNKSR2   COL4A5   COL4A6   COX7B   CPXCR1   CSTF2   CT45A1   CT45A2   CT45A3   CT45A5   CT45A6   CT47A1   CT47A10   CT47A11   CT47A12   CT47A2   CT47A3   CT47A4   CT47A5   CT47A6   CT47A7   CT47A8   CT47A9   CT47B1   CT55   CT83   CTPS2   CUL4B   CXCR3   CXorf21   CXorf38   CXorf40A   CXorf40B   CXorf49   CXorf49B   CXorf51A   CXorf51B   CXorf56   CXorf58   CXorf65   CXorf66   CYBB   CYLC1   CYSLTR1   DACH2   DANT2   DCAF12L1   DCAF12L2   DCAF8L1   DCAF8L2   DCX   DDX3X   DDX53   DGAT2L6   DGKK   DIAPH2   DIPK2B   DLG3   DMD   DMRTC1   DMRTC1B   DOCK11   DRP2   DUSP21   DYNLT3   EBP   EDA   EDA2R   EFHC2   EFNB1   EGFL6   EIF1AX   EIF2S3   ELF4   ELK1   ENOX2   ERAS   ERCC6L   ESX1   F9   FAAH2   FAM104B   FAM120C   FAM122B   FAM122C   FAM133A   FAM155B   FAM156A   FAM156B   FAM199X   FAM47A   FAM47B   FAM47C   FAM9A   FAM9B   FAM9C   FANCB   FATE1   FGD1   FGF13   FGF16   FHL1   FMR1   FMR1-AS1   FMR1NB   FOXO4   FOXP3   FOXR2   FRMD7   FRMPD3   FRMPD4   FTHL17   FTHL18   FTSJ1   FTX   FUNDC1   GABRE   GAGE1   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   GLUD2   GNL3L   GPC3   GPC4   GPKOW   GPM6B   GPR101   GPR119   GPR143   GPR173   GPR174   GPR34   GPR50   GPR50-AS1   GPR82   GPRASP1   GPRASP2   GRIA3   GRIPAP1   GRPR   GSPT2   GUCY2F   GYG2   H2AP   H2BW1   H2BW2   HCCS   HDAC6   HDAC8   HDX   HEPH   HMGB3   HMGN5   HNRNPH2   HPRT1   HS6ST2   HSD17B10   HSFX1   HSFX2   HTATSF1   HTR2C   HUWE1   IDS   IGBP1   IGSF1   IL13RA1   IL13RA2   IL1RAPL1   IL1RAPL2   IL2RG   INE1   INE2   INTS6L   IQSEC2   IRS4   ITGB1BP2   ITIH6   ITM2A   JADE3   JPX   KCND1   KCNE5   KDM5C   KDM6A   KIAA1210   KIF4A   KLF8   KLHL13   KLHL15   KLHL34   KLHL4   KRBOX4   LAMP2   LANCL3   LAS1L   LDOC1   LHFPL1   LINC01560   LONRF3   LPAR4   LRCH2   LUZP4   MAGEA10   MAGEA11   MAGEA4   MAGEA5   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   MED12   MED14   MID1   MID1IP1   MID2   MIR106A   MIR19B2   MIR221   MIR222   MIR223   MIR224   MIR424   MIR448   MIR502   MIR503   MIR506   MIR508   MIR509-1   MIR509-3   MIR510   MIR532   MIR98   MIRLET7F2   MMGT1   MORC4   MORF4L2   MOSPD1   MOSPD2   MPC1L   MSL3   MSN   MTM1   MTMR1   MTMR8   MTRNR2L10   MXRA5   NAP1L2   NAP1L3   NDP   NDUFA1   NDUFB11   NEXMIF   NHS   NHSL2   NKAP   NKRF   NLGN3   NLGN4X   NONO   NOX1   NR0B1   NRK   NUDT10   NUDT11   NUP62CL   NXF2   NXF2B   NXF3   NXF5   NXT2   NYX   OCRL   OFD1   OGT   OPHN1   OR13H1   OTC   OTUD5   OTUD6A   P2RY10   P2RY4   PABPC1L2A   PABPC1L2B   PABPC5   PAGE1   PAGE2   PAGE2B   PAGE3   PAGE4   PAGE5   PAK3   PASD1   PBDC1   PCDH11X   PCDH19   PCSK1N   PCYT1B   PDHA1   PDK3   PDZD11   PFKFB1   PGAM4   PGK1   PGRMC1   PHEX   PHF6   PHF8   PHKA1   PHKA2   PIGA   PIH1D3   PIM2   PIN4   PIR   PJA1   PLAC1   PLP1   PLP2   PLS3   PNPLA4   POF1B   POLA1   PORCN   POU3F4   PPEF1   PPP1R3F   PQBP1   PRAF2   PRDX4   PRICKLE3   PRKX   PRPS1   PRPS2   PRR32   PRRG1   PRRG3   PSMD10   PTCHD1   PUDP   PWWP3B   RAB33A   RAB40A   RAB40AL   RAB41   RAB9A   RAB9B   RADX   RAI2   RAP2C   RBBP7   RBM10   RBM3   RBM41   RBMX   RBMX2   RBMXL3   REPS2   RGN   RHOXF1   RHOXF2   RHOXF2B   RIBC1   RIPPLY1   RLIM   RNF113A   RNF128   RP2   RPA4   RPGR   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   SLC16A2   SLC25A14   SLC25A43   SLC25A5   SLC25A53   SLC35A2   SLC38A5   SLC6A14   SLC7A3   SLC9A6   SLC9A7   SLITRK2   SLITRK4   SMARCA1   SMC1A   SMIM10   SMPX   SMS   SNORA11   SNX12   SOWAHD   SOX3   SPACA5   SPACA5B   SPANXA1   SPANXA2   SPANXB1   SPANXC   SPANXD   SPANXN1   SPANXN2   SPANXN3   SPANXN4   SPANXN5   SPIN2A   SPIN2B   SPIN3   SPIN4   SRPX   SRPX2   SSX1   SSX2   SSX2B   SSX3   SSX4   SSX4B   SSX5   SSX7   STAG2   STARD8   STK26   STS   SUPT20HL1   SUPT20HL2   SUV39H1   SYAP1   SYN1   SYP   SYTL4   SYTL5   TAB3   TAF1   TAF7L   TAF9B   TBC1D25   TBC1D8B   TBL1X   TBX22   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCEANC   TCP11X2   TENM1   TENT5D   TEX11   TEX13A   TEX13B   TFDP3   TFE3   TGIF2LX   THOC2   TIMM17B   TIMM8A   TIMP1   TLR7   TLR8   TMEM164   TMEM185A   TMEM255A   TMEM31   TMEM35A   TMEM47   TMSB15A   TMSB15B   TMSB4X   TNMD   TRAPPC2   TRMT2B   TRO   TRPC5   TRPC5OS   TSC22D3   TSIX   TSPAN6   TSPAN7   TSPYL2   TSR2   TXLNG   UBA1   UBE2A   UBE2NL   UBQLN2   UPF3B   UPRT   USP11   USP26   USP27X   USP51   USP9X   UTP14A   UXT   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   ZFX   ZIC3   ZMAT1   ZMYM3   ZNF157   ZNF182   ZNF280C   ZNF41   ZNF449   ZNF630   ZNF674   ZNF711   ZNF75D   ZNF81   ZRSR2   ZXDA   ZXDB  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X168,547 - 151,304,063CLINVAR
Cytogenetic MapXXp22.33-q28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13443361
Created: 2017-11-07
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.