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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh38:
ChrX:1-156040895
LOC116309146, SLITRK2, LOC121627963, MIR1912, PDZD4, MAP3K15, IKBKG, LOC109396974, MIR507, LOC121853054, VMA21, LOC121627965, MIR4536-2, UBL4A, MAGEE2, LOC113875025, LOC113875035, CDR1, PHF8, LINC01496, LOC121627964, CNGA2, CSAG1, PABIR2, FAM226B, LOC116309151, IDH3G, FLICR, PLXNB3-AS1, ABCB7, SNORA70, LOC101928335, CNE7, LOC121853051, NAA10, BEX1, TMEM164, PRR32, FAM47C, LOC121627962, CDX4, TRI-GAT1-2, LOC116309154, MED14OS, LOC110120593, IL3RA, MID1IP1-AS1, MIR4770, CHST7, LOC121853052, CT47A8, PAGE4, ZC3H12B, LOC105377213, LOC101928495, MIR548AX, MIR1184-3, LOC111429618, KCND1, TMSB15B, LOC100533997, LOC116309161, DHRSX, NUP62CL, CMC4, MIR374B, MIR508, CT83, LOC121853068, CD99, SCML1, PORCN-DT, LOC107988021, ESX1, LINC01402, SLC25A5-AS1, MIR20B, LOC113875020, NLRP2B, CT45A7, LOC729609, FLJ44635, LOC121853055, LOC119369038, LOC105373311, SNORA48B, TMLHE-AS1, LOC119407400, LOC107032825, LOC113875017, LOC116309147, LOC113875008, TCP11X1, LOC114022706, COL4A6, UBQLN2, MIR6894, LOC121627980, GABRA3, WNK3, CDKL5, PCYT1B, SPANXN1, BCLAF3, LOC106146152, GAGE12F, SAT1, MIR6087, LOC110120711, SYTL4, AKAP17A, TMEM35A, SPANXA2, FAM104B, GDPD2, TRI-GAT1-3, LINC02589, LOC113875021, SUV39H1, MBTPS2, LOC106799844, LOC113875007, TCEAL3, LOC109610631, LOC119369039, RADX, MIR325, FAM236C, P2RY4, MAGEB17, MORC4, SNORA11G, LOC116309152, DIAPH2, CHM, GAGE12B, ZDHHC15, MAGEA2, OPHN1, CACNA1F, FAM199X, DANT2, LOC121627982, G6PD, TSR2, LOC121627957, LOC121627966, TMEM187, PUDP, CXorf66, CXorf51B, MIR450B, TRV-TAC1-2, CA5BP1-CA5B, GNG5P2, FRMPD3, AIFM1, UBE2A, LOC110121199, LOC116309143, CTAG1A, CT47A3, CT47A9, EFHC2, CPXCR1, PJA1, MORF4L2-AS1, MIR767, LOC113845783, NBDY, RBM10, CT55, MIR325HG, LOC121853064, MAGEB3, OPN1MW2, ITIH6, MIR384, LOC105373383, DOCK11, TXLNG, LOC113875027, GAGE10, LOC101059915, RENBP, SLC6A14, SCML2, TIMM17B, SNORD96B, MIR501, PFKFB1, ASB11, STEEP1, MIR888, CNE6, H2BW1, TSIX, FRMPD3-AS1, LOC107652445, MAGEA8, PGK1, MIR3202-1, LOC113875012, RAB40AL, FAM47A, MIR514B, USP26, FRMPD4-AS1, LOC113845782, AKAP4, SNORA35B, LINC00685, LOC105373338, GSPT2, LOC728660, MIR892B, MIR503HG, LOC119407404, CT45A2, MIR890, PIN4, MIR223HG, RTL8B, MIR891B, LINC00629, LOC107048982, WDR45, HSFX2, OPN1MW3, NDUFA1, PRAF2, AP1S2, MAGEA1, CXorf51A, SMIM10L2B-AS1, TSPYL2, ZMYM3, PLS3, MAP7D2, GAGE12E, TCP11X2, GPR101, LOC113875024, MIR651, MIR513C, LOC110121198, PCDH19, SASH3, GDI1, PHEX, TCEAL5, CT47A10, MORF4L2, LOC100132741, LOC106050103, KIF4A, ACOT9, FAM133A, CYSLTR1, XK, LOC119407405, LOC121627985, LINC00892, MIR1468, CT45A5, CNE-2, CENPI, NYX, LOC113875030, MCF2, MAGED4B, MIR4666B, PRPS1, RHOXF2, LOC105373378, SLC7A3, ZNF81, PPP1R3F, SNORA11E, LINC01186, MAOB, SERPINA7, LOC111589209, HS6ST2-AS1, SMPX, LOC121627974, CSF2RA, RTL9, FAM236A, MIR19B2, FTHL17, LOC110120761, GPRASP1, SPANXC, MIR4330, LOC116309159, MIR506, MOSPD2, MIR509-2, GAGE2C, MIR764, SNORD3E, LOC121627979, MIR448, RGN, HS6ST2, PBDC1, CSAG3, FAM50A, DGAT2L6, LOC106146151, VAMP7, FOXP3, ACE2, ARMCX4, SPANXD, XAGE2, ETDB, PPP1R2C, FMR1NB, MIR3202-2, PLS3-AS1, GPR82, POLA1, ARHGEF9, ZCCHC12, LOC108410393, LOC118966792, EFNB1, GRIPAP1, CH17-340M24.3, SYTL5, MIR892A, GTPBP6, SH3BGRL, MIR106A, LINC00891, LOC121627967, ATRX, L1CAM-AS1, DUSP21, JPX, MIR3672, BGN, LOC116309139, XPNPEP2, SLC25A6, ARSF, CT47A5, MIR8088, LOC119407421, TENM1, GAGE2D, DMD, LOC121627981, ZNF630, MAGEB18, MIR934, MIR3915, LINC01560, GPM6B, PCSK1N, LOC119407416, H2AB1, IL1RAPL2, MBNL3, SATL1, LOC101928201, RIPPLY1, PABPC1L2B-AS1, MIR513B, MIR222HG, VCX3A, NEXMIF, TBL1X, ATP6AP1, ARHGAP4, OTC, ZIC3, CSTF2, MSL3, GPR143, MAGEA11, TRPC5OS, SNORA35, MIR500A, ZFP92, RTL8C, RAB39B, FMR1-AS1, HCFC1-AS1, EOLA2-DT, LOC107181288, ARSD, LOC111464987, LOC113845781, LOC113875039, PTCHD1-AS, PNMA6E, SSR4, VCX, CLCN4, NKAP, MIR4536-1, LOC121853057, ANOS1, XKRX, AMELX, PWWP3B, CXorf65, MIR363, ETDC, LOC111365174, HSD17B10, CITED1, ARHGEF6, LOC121853059, SSX1, XAGE5, MIR188, NR0B1, CNE8, MAP7D3, FGF13-AS1, LOC645188, FGD1, MAGEA3, WWC3, TMEM255A, MIR548I4, LOC119407414, LOC121627969, CT45A6, RLIM, TRAPPC2, HTR2C, FLNA, IRAK1, LOC121627983, STAG2, RBMX2, ATXN3L, MIR4768, SERTM2, LOC113875019, XIAP, BRS3, EMD, OTUD6A, SPANXB1, ADGRG4, LOC101928336, CENPVL1, LOC113875022, LOC114022708, TEX13B, TBX22, CT47A4, SPIN2B, TCEAL8, LINC00632, LOC113875010, LOC113875013, NAP1L2, CXorf22, LOC113875034, CXorf30, CT47A12, LINC00630, LOC119407402, PAGE2B, XIST, BEX4, DACH2, CETN2, LOC114022707, LOC121627960, MIR1587, CFP, TFDP3, NDP-AS1, SYN1, MAGEC1, LOC108511947, CNE5, SYAP1, FAM3A, MIR223, MAOA, SRPK3, NALF2, SNORA56, MAGED1, RPA4, CTAG2, LOC286437, ELK1, BEX2, XACT, LOC110120592, LOC110120596, LOC111365200, LOC119407407, LANCL3, TASL, TIMP1, KDM6A, MAGEA4-AS1, LOC119407419, LOC121627968, FRAXA, RTL4, MIR421, LOC106146150, L1CAM, SMS, PHKA2, GEMIN8, CLIC2, GS1-600G8.3, LOC121853063, F8A3, H2AB2, PRICKLE3, MECP2, LRCH2, POF1B, LINC00850, SPRY3, CD40LG, GAGE1, MTCP1, HCFC1, LOC113875015, FRMPD4, MIR3937, LOC107988032, RPL39, PASD1, PHEX-AS1, FAM236B, TMSB15B-AS1, LOC116309150, EOLA1, APOO, DYNLT3, SPANXN2, RAB33A, LOC107988033, TBC1D25, ZNF41, SPANXA1, LOC111365226, ARMCX5, SSX4B, STK26, MAGEB16, LOC121627978, LOC727838, MIR509-3, MIR2114, MIR545, PPEF1-AS1, MIR362, LOC107985657, THOC2, GAGE2E, FAM226A, SOX3, SMARCA1, MIR222, ZC4H2, RNF113A, LOC113845789, IL13RA2, HSFX1, ZRSR2, IGBP1, MIR514A3, LOC116309162, ATG4A, PLP2, LOC113875037, LOC113875040, INTS6L, MIR532, DANT1, LOC101928389, PPP4R3C, PIR, SHROOM4, FAM223B, SNORD61, LOC106146144, ZCCHC18, FUNDC2, TLR8, EDA, SLC35A2, LOC107985687, OPN1MW, FAM47B, SH3KBP1, MIR4329, CENPVL3, LOC121627958, MAGEA2B, MAGEB1, TAF1, RTL5, LOC106050102, GAGE12G, LOC121627975, SMIM9, MIR1911, LOC119407397, LOC119407398, TBC1D8B, LOC113875026, MIR105-2, RPL36A, CXorf49, ASMTL, S100G, YIPF6, LINC00889, MAMLD1, RP2, MIR548F5, GPR50-AS1, LOC114022705, LOC121627986, LOC389895, FIRRE, ARHGAP6, SLC25A14, IDS, KANTR, PRKX-AS1, CNE-3, CNE4, RBM3, TRPC5, PPEF1, PSMD10, GABRQ, TIMM8A, HDAC6, EOLA2, SNORA36A, LOC113845786, LOC116309156, LOC119407420, NHSL2, AWAT1, MAGIX, GABRE, GPC4, VCX2, HPRT1, ARMCX1, PAK3, LOC111556151, TEX13D, LOC116309153, LOC121853058, MID1, SNORA11, TSPAN6, CCDC120, MIR652, LOC121853070, KDM5C, MAGEA12, MAGEA9, FTX, EDA2R, LAGE3, RPGR, FUNDC1, LOC105373133, MED12, PPP2R3B, USP51, PCYT1B-AS1, LOC121627972, TLR7, ERAS, HDX, CCNB3, NHS-AS1, LOC117134593, HMGB3, SLC25A5, MAGEB6, ARHGAP36, GPRASP2, ATP2B3, FAM9A, UBA1, LOC109504725, LOC121853067, DCAF8L2, MIR542, IL13RA1, MIR224, PLXNB3, NRK, ACSL4, OPSIN-LCR, LUZP4, EIF1AX-AS1, MOSPD1, PLCXD1, DCAF8L1, LOC116309160, LOC121627961, MIR502, AMOT, ACTRT1, ITM2A, LOC111242786, KLHL15, CLDN34, SNORA69, LOC101928564, GPR173, GLA, MIR513A2, LOC107988022, LOC108251803, ENOX2, CDK16, TCEAL4, MIR92A2, ETDA, HCCS, MSN, PHF6, FGF16, POU3F4, PDHA1, MAGED4, TAB3, MAGED2, OTUD5, MIR500B, LOC108251802, LOC113875018, LONRF3, CLCN5, SNORA109, LOC122394733, IQSEC2, MID2, F8, LINC01203, SMIM10L2B, TEX13C, FAM223A, MIR450A2, PIGA, KLF8, KCNE5, CNKSR2, FATE1, GPKOW, IRS4-AS1, TNMD, ZNF157, BEND2, CA5B, LOC107838685, LOC116309158, MIR510, H2BW2, RHOXF1-AS1, SSX3, BMP15, GPC3-AS1, ZNF182, SNX12, VCX3B, MIR1264, MIR1184-2, LOC105373156, AMMECR1, MIR505, LOC116309155, GPC3, MIR450A1, AGTR2, TLR8-AS1, LINC00106, LINC01285, SLC6A8, APLN, PRDX4, SCARNA9L, GPR119, MAGEC3, STARD8, PLAC1, TCEAL6, MIR6086, MIR6134, GS1-594A7.3, LOC116309145, SLC38A5, CTAG1B, TEX13A, TSPAN7, BEX5, MIR6857, PIR-FIGF, HAUS7, SH2D1A, NXF2, PORCN, LOC111365170, LOC113845787, LOC121627973, TEX11, SOWAHD, SAGE1, TMEM47, FAM9C, RHOXF1, NUDT10, MIR6089, MIR548AN, MIR12129, LOC116309144, LOC121853065, PAGE2, LINC01456, KIAA1210, EOLA1-DT, LOC101927830, SMIM10L2A, MIR766, CT47B1, BHLHB9, MIR221, XAGE3, RTL3, FRAXE, DCAF12L1, LOC108663984, BMX, MIRLET7F2, H2AP, MIR18B, ARAF, NUDT11, XAGE1B, DMRTC1, COX7B, CT47A2, PABIR3, LOC119407401, CUL4B, PGRMC1, LOC107048984, CNE9, RBMX, SLC9A7, NXF3, TCEAL7, LOC113845788, LOC113875033, IRS4, DGKK, CFAP47, ARMCX3, NLGN4X, ZBTB33, MIR452, MIR6858, LOC107032760, TMSB4X, CCNQ, NXT2, TAF9B, PNMA6A, DDX53, LOC111365193, RAB41, HTATSF1, MAGEB2, CD99L2, CCDC22, CBLL2, AWAT2, AVPR2, GAGE12C, RBMXL3, CAPN6, IL1RAPL1, LOC121853066, VGLL1, WAS, LOC110120737, LOC113875014, PNCK, RS1, LOC110120594, PINCR, BCOR, ELF4, LINC01278, MAGEA6, SPANXN3, NDUFB11, LAMP2, MAGEE1, MTMR8, SPIN4, CT45A8, SPANXA2-OT1, LOC101927476, LINC02601, LOC110120680, AMER1, RAP2C, STS, USP11, MXRA5, CT45A9, ARSD-AS1, RBBP7, ARMCX5-GPRASP2, ZNF674-AS1, GUCY2F, LOC119407422, TCEAL1, DIPK2B, TAB3-AS1, LINC01204, TFE3, MIR1298, PLXNA3, GK, PDK3, SPACA5, MIR718, LOC113845784, LOC113875009, BRWD3, NXF5, CENPVL2, LOC113845785, GPR34, MAGEC2, ASMT, LOC108281134, RPS6KA6, CT45A3, ATP7A, GAGE12I, ZNF630-AS1, LOC110120597, TGIF2LX, LPAR4, TMEM31, ARX, EIF2S3, GLRA2, GAGE12J, LOC121853072, MAGEB4, MIR548AJ2, HDAC8, PQBP1, TCEANC, LOC119407408, LOC121853050, YY2, BCAP31, BRCC3, F8A1, SPIN2A, LOC121627971, FHL1, LOC119407411, LOC100506790, LOC113875038, LOC119407403, LOC105373244, ZMAT1, WDR44, LINC01201, LOC116309138, DCX, VSIG1, ZNF280C, DLG3-AS1, ZXDB, INE2, LOC116309148, MIR6895, NHS, PGAM4, CSAG2, FRMD7, MIR424, CLDN2, DNAAF6, MIR514A1, LOC119407413, PWWP4, P2RY8, TAFAZZIN, APOOL, MIR1184-1, MIR374A, MIR676, LOC108281126, LOC119407399, DKC1, CT45A10, MIR504, SMC1A, ALG13, PAGE1, PHKA1, VSIG4, NLGN3, GRIA3, LOC121853071, GAGE12H, ZNF449, LINC00269, SHOX, AR, CXCR3, MIR891A, LINC01545, CNE-5, LOC111828531, DCAF12L2, TCEAL2, LINC01546, LOC106029240, ADGRG2, KRBOX4, SSX2, CT47A6, TMLHE, GLUD2, FAM120C, FTSJ1, P2RY10, HMGN5, PRRG3, NOX1, NCBP2L, PTCHD1, MIR514A2, FGF13, KLHL13, HNRNPH2, LHFPL1, OPN1LW, VEGFD, SLC16A2, PAGE5, ZNF275, LOC121627970, CLTRN, GATA1, COL4A5, PABPC5-AS1, LOC121853069, GNL3L, USP27X, UBE2NL, MTRNR2L10, PNMA3, MAGEA10, FAM9B, TAF7L, LOC113875016, MAGEB10, F9, ASB9, MIR548M, ARSL, DIAPH2-AS1, LOC113845780, LOC113875023, FMR1, UPF3B, MAGEA4, ZCCHC13, MPP1, ZNF711, SYP-AS1, XG, MIR509-1, MIR664B, APEX2, SLITRK4, SYP, WDR13, TRMT2B, TREX2, RPS4X, NONO, RAP2C-AS1, LOC106146143, LOC113875031, BEX3, PRPS2, CT47A11, NKRF, HSFX3, LOC107988025, EBP, PNMA5, MAGEA8-AS1, RTL8A, LOC119407412, ARMCX6, MIR1321, LOC119407417, UPRT, CT47A7, LOC101928128, SPANXN4, TKTL1, MIR98, DLG3, MAGEB6B, SPIN3, CXorf58, LINC02154, H2AB3, JADE3, TRO, FANCB, KLHL4, PCDH11X, MCTS1, LOC113875006, TSC22D3, LOC100126447, WASIR1, LOC109286564, ARMCX2, MIR503, XAGE-4, MAGT1, INE1, ATP6AP2, FAM156A, FAM236D, EGFL6, RHOXF2B, NAP1L3, BTK, DUSP9, TMEM185A, SSX2B, LOC113875011, RPS6KA3, FAAH2, IL9R, DDX3X, CXorf38, MIR320D2, LINC02243, LOC116309149, MAGEB5, XAGE1A, TENT5D, GPR174, ERCC6L, ITGB1BP2, VBP1, OR13H1, SUPT20HL1, SUPT20HL2, ALAS2, GAGE12D, PRKX, MTMR1, CYBB, DRP2, PDZD11, MIR4767, ARHGEF9-IT1, LOC121853061, LAS1L, SLC25A53, BCORL1, LDOC1, USP27X-DT, LOC119407415, ATP11C, HUWE1, LOC116309142, LINC01281, PABPC5, PRRG1, GCNA, HEPH, SPIN4-AS1, SPANXN5, SRPX, UXT, RBM41, CHIC1, SLC9A6, TCEAL9, FOXR2, SNORA11D, GAGE2B, GJB1, GYG2, OFD1, PIM2, RPL36A-HNRNPH2, MIR374C, RRAGB, SPACA5B, NXF2B, GK-AS1, LOC113875028, TDGF1P3, SSX4, IL2RG, AFF2, TMSB15A, CT47A1, MIR1277, LINC02595, TEX28, LOC119407406, ARSH, FOXO4, SEPTIN6, RAI2, LINC01282, CCDC160, LOC101928437, INTS6L-AS1, LINC00102, LOC119407418, ZDHHC9, F8A2, GAB3, UXT-AS1, PNMA6F, LOC121627976, ZBED1, CYLC1, LOC116309157, RAB40A, NSDHL, MIR105-1, ZFX-AS1, KLHL34, MIR23C, SNORA11C, EIF1AX, CHRDL1, NDP, RAB9A, SSX7, PHKA2-AS1, MIR4328, IGSF1, CXorf49B, UTP14A, CTPS2, OCRL, LOC113875036, LOC121853049, LOC121853053, SLC10A3, LOC107522039, RNF128, MIR513A1, MIR361, LOC113875032, CRLF2, MIR660, MIR3978, GRPR, PAGE3, ZFX, RPL10, ATP1B4, MIR892C, STAG2-AS1, LOC121627977, CT45A1, MAGEA9B, AKAP14, MTM1, LOC110120679, LOC113875029, OGT, MIR3690, ASB12, GAGE13, C1GALT1C1, SHROOM2, PHKA1-AS1, ARR3, EZHIP, MPC1L, RIBC1, MID1IP1, MIR548AM, MIR4769, MAGEH1, GLOD5, PABPC1L2A, TRI-GAT1-1, PNPLA4, ZXDA, SLC25A43, SSX5, ZNF674, MMGT1, SMIM10, LOC121853062, H2AL3, GPR50, LOC121853056, DMRTC1B, LOC107988024, MED14, DNASE1L1, PLP1, FAM156B, HSFX4, LOC106029241, USP9X, ZNF75D, REPS2, ABCD1, GAGE2A, ASMTL-AS1, SCARNA23, LOC121853060, ARL13A, PABPC1L2B, LOC101928627, LOC110120595, RAB9B, ZNF185, LINC01284, LOC122319696, SRPX2, CASK
Autistic disorder, SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000488014
2.
GRCh37:
ChrX:60001-155260560
GRCh38:
ChrX:10001-156030895
PNMA3, PNMA5, PNMA6A, PNMA6E, PNMA6F, PNPLA4, POF1B, POLA1, PORCN, PORCN-DT, POU3F4, PPEF1, PPEF1-AS1, PPP1R2C, PPP1R3F, PPP2R3B, PPP4R3C, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRKX-AS1, PRPS1, PRPS2, PRR32, PRRG1, PRRG3, PSMD10, PTCHD1, PTCHD1-AS, PUDP, PWWP3B, PWWP4, 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, SHOX, SHROOM2, SHROOM4, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A5-AS1, SLC25A53, SLC25A6, 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, SPIN4-AS1, SPRY3, SRPK3, SRPX, SRPX2, SSR4, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STAG2-AS1, STARD8, STEEP1, STK26, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYP-AS1, SYTL4, SYTL5, TAB3, TAB3-AS1, TAF1, TAF7L, TAF9B, TAFAZZIN, TASL, TBC1D25, TBC1D8B, TBL1X, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCEANC, TCP11X1, TCP11X2, TDGF1P3, 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-DT, USP51, USP9X, UTP14A, UXT, UXT-AS1, VAMP7, VBP1, VCX, VCX2, VCX3A, VCX3B, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WASIR1, WDR13, WDR44, WDR45, WNK3, WWC3, XACT, XAGE-4, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, ZBED1, 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, ABCB7, ABCD1, ACE2, ACOT9, ACSL4, ACTRT1, ADGRG2, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, AKAP17A, 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, ASMT, ASMTL, ASMTL-AS1, 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, CA5BP1-CA5B, CACNA1F, CAPN6, CASK, CBLL2, CCDC120, CCDC160, CCDC22, CCNB3, CCNQ, CD40LG, CD99, CD99L2, CDK16, CDKL5, CDR1, CDX4, CENPI, CENPVL1, CENPVL2, CENPVL3, CETN2, CFAP47, CFP, CH17-340M24.3, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN4, CLCN5, CLDN2, CLDN34, CLIC2, CLTRN, CMC4, CNE-2, CNE-3, CNE-5, CNE4, CNE5, CNE6, CNE7, CNE8, CNE9, CNGA2, CNKSR2, CSAG2, COL4A5, COL4A6, COX7B, CPXCR1, CRLF2, CSAG1, CSAG3, CSF2RA, 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, CXorf22, CXorf30, CXorf38, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf58, CXorf65, CXorf66, CYBB, CYLC1, CYSLTR1, DACH2, DANT1, DANT2, DCAF12L1, DCAF12L2, DCAF8L1, DCAF8L2, DCX, DDX3X, DDX53, DGAT2L6, DGKK, DHRSX, DIAPH2, DIAPH2-AS1, DIPK2B, DKC1, DLG3, DLG3-AS1, DMD, DMRTC1, DMRTC1B, DNAAF6, DNASE1L1, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EGFL6, EIF1AX, EIF1AX-AS1, EIF2S3, ELF4, ELK1, EMD, ENOX2, EOLA1, EOLA1-DT, EOLA2, EOLA2-DT, ERAS, ERCC6L, ESX1, ETDA, ETDB, ETDC, EZHIP, F8, F8A1, F8A2, F8A3, F9, FAAH2, FAM104B, FAM120C, FAM133A, 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, FRAXA, FRAXE, FRMD7, FRMPD3, FRMPD3-AS1, FRMPD4, FRMPD4-AS1, FTHL17, 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, GK-AS1, GLA, GLOD5, GLRA2, GLUD2, GNG5P2, GNL3L, GPC3, GPC3-AS1, GPC4, GPKOW, GPM6B, GPR101, GPR119, GPR143, GPR173, GPR174, GPR34, GPR50, GPR50-AS1, GPR82, GPRASP1, GPRASP2, GRIA3, GRIPAP1, GRPR, GS1-594A7.3, GS1-600G8.3, GSPT2, GTPBP6, GUCY2F, GYG2, H2AB1, H2AB2, H2AB3, H2AL3, 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, IL3RA, IL9R, INE1, INE2, INTS6L, INTS6L-AS1, IQSEC2, IRAK1, IRS4, IRS4-AS1, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KANTR, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL15, KLHL34, KLHL4, KRBOX4, L1CAM, L1CAM-AS1, LAGE3, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC00102, LINC00106, LINC00269, LINC00629, LINC00630, LINC00632, LINC00685, LINC00850, LINC00889, LINC00891, LINC00892, LINC01186, LINC01201, LINC01203, LINC01204, LINC01278, LINC01281, LINC01282, LINC01284, LINC01285, LINC01402, LINC01456, LINC01496, LINC01545, LINC01546, LINC01560, LINC02154, LINC02243, LINC02589, LINC02595, LINC02601, LOC100126447, LOC100132741, LOC100506790, LOC100509091, LOC100533997, LOC101059915, LOC101927476, LOC101927830, LOC101928128, LOC101928201, LOC101928335, LOC101928336, LOC101928389, LOC101928437, LOC101928495, LOC101928564, LOC101928627, LOC105373133, LOC105373156, LOC105373244, LOC105373311, LOC105373338, LOC105373378, LOC105373383, LOC105377213, LOC106029240, LOC106029241, LOC106050102, LOC106050103, LOC106146143, LOC106146144, LOC106146150, LOC106146151, LOC106146152, LOC106799844, LOC107032760, LOC107032825, LOC107048982, LOC107048984, LOC107181288, LOC107522039, LOC107652445, LOC107838685, LOC107985657, LOC107985687, LOC107988021, LOC107988022, LOC107988024, LOC107988025, LOC107988032, LOC107988033, LOC108251802, LOC108251803, LOC108281126, LOC108281134, LOC108410393, LOC108511947, LOC108663984, LOC109286564, LOC109396974, LOC109504725, LOC109610631, LOC110120592, LOC110120593, LOC110120594, LOC110120595, LOC110120596, LOC110120597, LOC110120679, LOC110120680, LOC110120711, LOC110120737, LOC110120761, LOC110121198, LOC110121199, LOC111242786, LOC111365170, LOC111365174, LOC111365193, LOC111365200, LOC111365226, LOC111429618, LOC111464987, LOC111556151, LOC111589209, LOC111828531, LOC113845780, LOC113845781, LOC113845782, LOC113845783, LOC113845784, LOC113845785, LOC113845786, LOC113845787, LOC113845788, LOC113845789, LOC113875006, LOC113875007, LOC113875008, LOC113875009, LOC113875010, LOC113875011, LOC113875012, LOC113875013, LOC113875014, LOC113875015, LOC113875016, LOC113875017, LOC113875018, LOC113875019, LOC113875020, LOC113875021, LOC113875022, LOC113875023, LOC113875024, LOC113875025, LOC113875026, LOC113875027, LOC113875028, LOC113875029, LOC113875030, LOC113875031, LOC113875032, LOC113875033, LOC113875034, LOC113875035, LOC113875036, LOC113875037, LOC113875038, LOC113875039, LOC113875040, LOC114022705, LOC114022706, LOC114022707, LOC114022708, LOC116309138, LOC116309139, LOC116309142, LOC116309143, LOC116309144, LOC116309145, LOC116309146, LOC116309147, LOC116309148, LOC116309149, LOC116309150, LOC116309151, LOC116309152, LOC116309153, LOC116309154, LOC116309155, LOC116309156, LOC116309157, LOC116309158, LOC116309159, LOC116309160, LOC116309161, LOC116309162, LOC117134593, LOC118966792, LOC119369038, LOC119369039, LOC119407397, LOC119407398, LOC119407399, LOC119407400, LOC119407401, LOC119407402, LOC119407403, LOC119407404, LOC119407405, LOC119407406, LOC119407407, LOC119407408, LOC119407411, LOC119407412, LOC119407413, LOC119407414, LOC119407415, LOC119407416, LOC119407417, LOC119407418, LOC119407419, LOC119407420, LOC119407421, LOC119407422, LOC121627957, LOC121627958, LOC121627960, LOC121627961, LOC121627962, LOC121627963, LOC121627964, LOC121627965, LOC121627966, LOC121627967, LOC121627968, LOC121627969, LOC121627970, LOC121627971, LOC121627972, LOC121627973, LOC121627974, LOC121627975, LOC121627976, LOC121627977, LOC121627978, LOC121627979, LOC121627980, LOC121627981, LOC121627982, LOC121627983, LOC121627985, LOC121627986, LOC121853049, LOC121853050, LOC121853051, LOC121853052, LOC121853053, LOC121853054, LOC121853055, LOC121853056, LOC121853057, LOC121853058, LOC121853059, LOC121853060, LOC121853061, LOC121853062, LOC121853063, LOC121853064, LOC121853065, LOC121853066, LOC121853067, LOC121853068, LOC121853069, LOC121853070, LOC121853071, LOC121853072, LOC122319696, LOC122394733, LOC286437, LOC389895, LOC645188, LOC727838, LOC728660, LOC729609, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA4-AS1, MAGEA6, MAGEA8, MAGEA8-AS1, MAGEA9, MAGEA9B, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEB6B, 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, MIR12129, MIR1264, MIR1277, MIR1298, MIR1321, MIR1468, MIR1587, MIR188, MIR18B, MIR1911, MIR1912, MIR19B2, MIR20B, MIR2114, MIR221, MIR222, MIR222HG, MIR223, MIR223HG, MIR224, MIR23C, MIR3202-1, MIR3202-2, MIR320D2, MIR325, MIR325HG, MIR361, MIR362, MIR363, MIR3672, MIR3690, 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, MIR6087, MIR6089, 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, NALF2, 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, OPSIN-LCR, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, P2RY8, PABIR2, PABIR3, 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, PIM2, PIN4, PINCR, PIR, PIR-FIGF, PJA1, PLAC1, PLCXD1, PLP1, PLP2, PLS3, PLS3-AS1, PLXNA3, PLXNB3, PLXNB3-AS1, PNCK
See casesPathogenic
(Oct 30, 2010)
no assertion criteria providedVCV000146764
3.
GRCh37:
ChrX:60679-155242832
GRCh38:
ChrX:10679-156013167
GAGE2C, GAGE2D, KCND1, KCNE5, LOC107988022, LOC107988024, LOC116309139, LOC116309142, LOC116309143, LOC116309144, LOC121853065, LOC121853066, MIR18B, MIR1911, MIR1912, MIR19B2, MIR20B, MIR23C, MIR3202-1, MIR325, MIR325HG, MIR3202-2, MIR320D2, MIR2114, LOC121853069, LOC121853070, LOC122319696, LOC122394733, LOC286437, LOC389895, LOC645188, MIR221, MIR222, MIR222HG, MIR223, MIR223HG, MIR224, LOC121853067, LOC121853068, LOC727838, LOC728660, LOC116309153, LOC116309154, LOC116309155, LOC116309156, LOC116309157, LOC116309158, LOC116309159, LOC116309150, LOC116309151, LOC116309152, LOC729609, LONRF3, LPAR4, LOC121853071, LOC121853072, LOC107988025, LOC107988032, LOC107988033, LOC108410393, LOC108511947, LOC108663984, LOC109286564, LOC108251802, LOC108251803, LOC108281126, LOC108281134, LOC109396974, LOC109504725, LOC109610631, LOC110120592, LOC110120593, LOC116309160, LOC116309161, LOC116309162, LOC116309145, LOC116309146, KLHL13, LINC00106, LINC00269, LINC00629, LINC00630, LINC00632, LINC00685, L1CAM-AS1, KLHL34, KLHL4, GK-AS1, GPR173, GPR174, KLHL15, KRBOX4, L1CAM, LAGE3, LOC116309147, LOC116309148, LOC116309149, GAGE2E, GAGE8, GPR34, GJB1, GK, GPR119, GPR143, GPR50, GPR50-AS1, GPR82, GABRE, GABRQ, GAGE1, GAGE10, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GATA1, GCNA, GDI1, GDPD2, GEMIN8, GLA, GLOD5, GLRA2, GLUD2, GNG5P2, GNL3L, GPC3, GPC3-AS1, GPC4, GPKOW, GPM6B, GPR101, GPRASP1, GPRASP2, GRIA3, GRIPAP1, GRPR, GS1-594A7.3, GS1-600G8.3, GSPT2, GTPBP6, GUCY2F, GYG2, H2AB1, H2AB2, H2AB3, H2AL3, 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, IL3RA, IL9R, INE1, INE2, INTS6L, INTS6L-AS1, IQSEC2, IRAK1, IRS4, IRS4-AS1, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KANTR, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC00102, LINC00850, LINC00889, LINC00891, LINC00892, LINC01186, LINC01201, LINC01203, LINC01204, LINC01278, LINC01281, LINC01282, LINC01284, LINC01285, LINC01402, LINC01456, LINC01496, LINC01545, LINC01546, LINC01560, LINC02154, LINC02243, LINC02589, LINC02595, LINC02601, LOC100126447, LOC100132741, LOC100506790, LOC100509091, LOC100533997, LOC101059915, LOC101927476, LOC101927830, LOC101928128, LOC101928201, LOC101928335, LOC101928336, LOC101928389, LOC101928437, LOC101928495, LOC101928564, LOC101928627, LOC105373133, LOC105373156, LOC105373244, LOC105373311, LOC105373338, LOC105373378, LOC105373383, LOC105377213, LOC106029240, LOC106029241, LOC106050102, LOC106050103, LOC106146143, LOC106146144, LOC106146150, LOC106146151, LOC106146152, LOC106799844, LOC107032760, LOC107032825, LOC107048982, LOC107048984, LOC107181288, LOC107522039, LOC107652445, LOC107838685, LOC107985657, LOC107985687, LOC107988021, LOC110120594, LOC110120595, LOC110120596, LOC110120597, LOC110120679, LOC110120680, LOC110120711, LOC110120737, LOC110120761, LOC110121198, LOC110121199, LOC111242786, LOC111365170, LOC111365174, LOC111365193, LOC111365200, LOC111365226, LOC111429618, LOC111464987, LOC111556151, LOC111589209, LOC111828531, LOC113845780, LOC113845781, LOC113845782, LOC113845783, LOC113845784, LOC113845785, LOC113845786, LOC113845787, LOC113845788, LOC113845789, LOC113875006, LOC113875007, LOC113875008, LOC113875009, LOC113875010, LOC113875011, LOC113875012, LOC113875013, LOC113875014, LOC113875015, LOC113875016, LOC113875017, LOC113875018, LOC113875019, LOC113875020, LOC113875021, LOC113875022, LOC113875023, LOC113875024, LOC113875025, LOC113875026, LOC113875027, LOC113875028, LOC113875029, LOC113875030, LOC113875031, LOC113875032, LOC113875033, LOC113875034, LOC113875035, LOC113875036, LOC113875037, LOC113875038, LOC113875039, LOC113875040, LOC114022705, LOC114022706, LOC114022707, LOC114022708, LOC116309138, LOC117134593, LOC118966792, LOC119369038, LOC119369039, LOC119407397, LOC119407398, LOC119407399, LOC119407400, LOC119407401, LOC119407402, LOC119407403, LOC119407404, LOC119407405, LOC119407406, LOC119407407, LOC119407408, LOC119407411, LOC119407412, LOC119407413, LOC119407414, LOC119407415, LOC119407416, LOC119407417, LOC119407418, LOC119407419, LOC119407420, LOC119407421, LOC119407422, LOC121627957, LOC121627958, LOC121627960, LOC121627961, LOC121627962, LOC121627963, LOC121627964, LOC121627965, LOC121627966, LOC121627967, LOC121627968, LOC121627969, LOC121627970, LOC121627971, LOC121627972, LOC121627973, LOC121627974, LOC121627975, LOC121627976, LOC121627977, LOC121627978, LOC121627979, LOC121627980, LOC121627981, LOC121627982, LOC121627983, LOC121627985, LOC121627986, LOC121853049, LOC121853050, LOC121853051, LOC121853052, LOC121853053, LOC121853054, LOC121853055, LOC121853056, LOC121853057, LOC121853058, LOC121853059, LOC121853060, LOC121853061, LOC121853062, LOC121853063, LOC121853064, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA4-AS1, MAGEA6, MAGEA8, MAGEA8-AS1, MAGEA9, MAGEA9B, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEB6B, 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, MIR12129, MIR1264, MIR1277, MIR1298, MIR1321, MIR1468, MIR1587, MIR188, MIR361, MIR362, MIR363, MIR3672, MIR3690, 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, ABCB7, ABCD1, ACE2, ACOT9, ACSL4, ACTRT1, ADGRG2, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, AKAP17A, 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, ASMT, ASMTL, ASMTL-AS1, 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, CA5BP1-CA5B, CACNA1F, CAPN6, CASK, CBLL2, CCDC120, CCDC160, CCDC22, CCNB3, CCNQ, CD40LG, CD99, CD99L2, CDK16, CDKL5, CDR1, CDX4, CENPI, CENPVL1, CENPVL2, CENPVL3, CETN2, CFAP47, CFP, CH17-340M24.3, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN4, CLCN5, CLDN2, CLDN34, CLIC2, CLTRN, CMC4, CNE-2, CNE-3, CNE-5, CNE4, CNE5, CNE6, CNE7, CNE8, CNE9, CNGA2, CNKSR2, CSAG2, COL4A5, COL4A6, COX7B, CPXCR1, CRLF2, CSAG1, CSAG3, CSF2RA, 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, CXorf22, CXorf30, CXorf38, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf58, CXorf65, CXorf66, CYBB, CYLC1, CYSLTR1, DACH2, DANT1, DANT2, DCAF12L1, DCAF12L2, DCAF8L1, DCAF8L2, DCX, DDX3X, DDX53, DGAT2L6, DGKK, DHRSX, DIAPH2, DIAPH2-AS1, DIPK2B, DKC1, DLG3, DLG3-AS1, DMD, DMRTC1, DMRTC1B, DNAAF6, DNASE1L1, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EGFL6, EIF1AX, EIF1AX-AS1, EIF2S3, ELF4, ELK1, EMD, ENOX2, EOLA1, EOLA1-DT, EOLA2, EOLA2-DT, ERAS, ERCC6L, ESX1, ETDA, ETDB, ETDC, EZHIP, F8, F8A1, F8A2, F8A3, F9, FAAH2, FAM104B, FAM120C, FAM133A, 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, FRAXA, FRAXE, FRMD7, FRMPD3, FRMPD3-AS1, FRMPD4, FRMPD4-AS1, FTHL17, FTSJ1, FTX, FUNDC1, FUNDC2, G6PD, GAB3, GABRA3, MIR6087, MIR6089, 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, NALF2, 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, OPSIN-LCR, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, P2RY8, PABIR2, PABIR3, 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, PIM2, PIN4, PINCR, PIR, PIR-FIGF, PJA1, PLAC1, PLCXD1, PLP1, PLP2, PLS3, PLS3-AS1, PLXNA3, PLXNB3, PLXNB3-AS1, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PNMA6F, PNPLA4, POF1B, POLA1, PORCN, PORCN-DT, POU3F4, PPEF1, PPEF1-AS1, PPP1R2C, PPP1R3F, PPP2R3B, PPP4R3C, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRKX-AS1, PRPS1, PRPS2, PRR32, PRRG1, PRRG3, PSMD10, PTCHD1, PTCHD1-AS, PUDP, PWWP3B, PWWP4, 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, SHOX, SHROOM2, SHROOM4, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A5-AS1, SLC25A53, SLC25A6, SLC35A2, SLC9A7, SLC38A5, SLC6A14, SLC6A8, SLC7A3, SLC9A6, 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, SPIN4-AS1, SPRY3, SRPK3, SRPX, SRPX2, SSR4, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STAG2-AS1, STARD8, STEEP1, STK26, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYP-AS1, SYTL4, SYTL5, TAB3, TAB3-AS1, TAF1, TAF7L, TAF9B, TAFAZZIN, TASL, TBC1D25, TBC1D8B, TBL1X, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCEANC, TCP11X1, TCP11X2, TDGF1P3, 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-DT, USP51, USP9X, UTP14A, UXT, UXT-AS1, VAMP7, VBP1, VCX, VCX2, VCX3A, VCX3B, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WDR13, WDR44, WDR45, WNK3, WWC3, XACT, XAGE-4, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, ZBED1, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000160983
4.
GRCh37:
ChrX:60679-155251871
GRCh38:
ChrX:10679-156022206
CT45A3, F8A1, F8A2, F8A3, GNL3L, LHFPL1, LOC109504725, LOC109610631, LOC116309161, LOC116309162, LOC117134593, LOC119407407, LOC119407408, LOC118966792, LOC119369038, LOC119369039, LOC119407413, LOC119407414, LOC119407398, LOC119407399, LOC119407400, LOC119407411, LOC119407412, LOC111365226, LOC111429618, LOC111464987, LOC111556151, LOC110120595, LOC110120596, LOC110120597, LOC119407397, LOC119407401, LOC119407402, LOC119407403, LOC119407404, LOC119407405, LOC119407406, LOC110120592, LOC110120593, LOC110120594, LOC110120679, LOC110120680, LOC110120711, LOC110120737, LINC01204, LINC01278, LINC01281, LINC00629, LINC00630, LINC00632, LINC01282, LINC01284, LINC01285, LINC01402, LINC00106, LINC00269, LINC00685, LOC110120761, LOC110121198, LOC110121199, LOC111242786, LOC111365170, LOC111365174, LOC111365193, LOC111365200, GPR119, GPR143, GPR173, GPRASP1, GPRASP2, LINC00102, GPR174, GPR34, GPR50, GPR50-AS1, GPR82, GTPBP6, LINC00850, LINC00889, LINC00891, FAM156B, FAM3A, FAM47A, FAM47C, FAM50A, FAM9A, FAM9B, FAM199X, FAM223A, FAM223B, FAM226A, FAM226B, FAM236A, CT47A10, CT47A11, FAM47B, FAM236B, FAM236C, FAM236D, LINC00892, LINC01186, LINC01201, LINC01203, CT45A5, CT45A6, CT45A7, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT83, CTAG1A, CTAG1B, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT45A8, CT45A9, CT47A1, CTAG2, CTPS2, CUL4B, CXCR3, CXorf22, CXorf30, CXorf38, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf58, CXorf65, CXorf66, CYBB, CYLC1, CYSLTR1, DACH2, DANT1, DANT2, DCAF12L1, DCAF12L2, DCAF8L1, DCAF8L2, DCX, DDX3X, DDX53, DGAT2L6, DGKK, DHRSX, DIAPH2, DIAPH2-AS1, DIPK2B, DKC1, DNASE1L1, DLG3, DLG3-AS1, DMD, DMRTC1, DMRTC1B, DNAAF6, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EGFL6, EIF1AX, EIF1AX-AS1, EIF2S3, ELF4, ELK1, EMD, ENOX2, EOLA1, EOLA1-DT, EOLA2, EOLA2-DT, ERAS, ERCC6L, ESX1, ETDA, ETDB, ETDC, EZHIP, F8, F9, FAAH2, FAM104B, FAM120C, FAM133A, FAM156A, FAM9C, FANCB, FATE1, FGD1, FGF13, FGF13-AS1, FGF16, FHL1, FIRRE, FLICR, FLJ44635, FLNA, FMR1, FMR1-AS1, FMR1NB, FOXO4, FOXP3, FOXR2, FRAXA, FRAXE, FRMD7, FRMPD3, FRMPD3-AS1, FRMPD4, FRMPD4-AS1, FTHL17, 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, GK-AS1, GLA, GLOD5, GLRA2, GLUD2, GNG5P2, GPC3, GPC3-AS1, GPC4, GPKOW, GPM6B, GPR101, GRIA3, GRIPAP1, GRPR, GS1-594A7.3, GS1-600G8.3, GSPT2, GUCY2F, GYG2, H2AB1, H2AB2, H2AB3, H2AL3, 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, IL3RA, IL9R, INE1, INE2, INTS6L, INTS6L-AS1, IQSEC2, IRAK1, IRS4, IRS4-AS1, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KANTR, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL15, KLHL34, KLHL4, KRBOX4, L1CAM, L1CAM-AS1, LAGE3, LAMP2, LANCL3, LAS1L, LDOC1, LINC01456, LINC01496, LINC01545, LINC01546, LINC01560, LINC02154, LINC02243, LINC02589, LINC02595, LINC02601, LOC100126447, LOC100132741, LOC100506790, LOC100509091, LOC100533997, LOC101059915, LOC101927476, LOC101927830, LOC101928128, LOC101928201, LOC101928335, LOC101928336, LOC101928389, LOC101928437, LOC101928495, LOC101928564, LOC101928627, LOC105373133, LOC105373156, LOC105373244, LOC105373311, LOC105373338, LOC105373378, LOC105373383, LOC105377213, LOC106029240, LOC106029241, LOC106050102, LOC106050103, LOC106146143, LOC106146144, LOC106146150, LOC106146151, LOC106146152, LOC106799844, LOC107032760, LOC107032825, LOC107048982, LOC107048984, LOC107181288, LOC107522039, LOC107652445, LOC107838685, LOC107985657, LOC107985687, LOC107988021, LOC107988022, LOC107988024, LOC107988025, LOC107988032, LOC107988033, LOC108251802, LOC108251803, LOC108281126, LOC108281134, LOC108410393, LOC108511947, LOC108663984, LOC109286564, LOC109396974, LOC111589209, LOC111828531, LOC113845780, LOC113845781, LOC113845782, LOC113845783, LOC113845784, LOC113845785, LOC113845786, LOC113845787, LOC113845788, LOC113845789, LOC113875006, LOC113875007, LOC113875008, LOC113875009, LOC113875010, LOC113875011, LOC113875012, LOC113875013, LOC113875014, LOC113875015, LOC113875016, LOC113875017, LOC113875018, LOC113875019, LOC113875020, LOC113875021, LOC113875022, LOC113875023, LOC113875024, LOC113875025, LOC113875026, LOC113875027, LOC113875028, LOC113875029, LOC113875030, LOC113875031, LOC113875032, LOC113875033, LOC113875034, LOC113875035, LOC113875036, LOC113875037, LOC113875038, LOC113875039, LOC113875040, LOC114022705, LOC114022706, LOC114022707, LOC114022708, LOC116309138, LOC116309139, LOC116309142, LOC116309143, LOC116309144, LOC116309145, LOC116309146, LOC116309147, LOC116309148, LOC116309149, LOC116309150, LOC116309151, LOC116309152, LOC116309153, LOC116309154, LOC116309155, LOC116309156, LOC116309157, LOC116309158, LOC116309159, LOC116309160, LOC119407415, LOC119407416, LOC119407417, LOC119407418, LOC119407419, LOC119407420, LOC119407421, LOC119407422, LOC121627957, LOC121627958, LOC121627960, LOC121627961, LOC121627962, LOC121627963, LOC121627964, LOC121627965, LOC121627966, LOC121627967, LOC121627968, LOC121627969, LOC121627970, LOC121627971, LOC121627972, LOC121627973, LOC121627974, LOC121627975, LOC121627976, LOC121627977, LOC121627978, LOC121627979, LOC121627980, LOC121627981, LOC121627982, LOC121627983, LOC121627985, LOC121627986, LOC121853049, LOC121853050, LOC121853051, LOC121853052, LOC121853053, LOC121853054, LOC121853055, LOC121853056, LOC121853057, LOC121853058, LOC121853059, LOC121853060, LOC121853061, LOC121853062, ABCB7, ABCD1, ACE2, ACOT9, ACSL4, ACTRT1, ADGRG2, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, AKAP17A, 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, ASMT, ASMTL, ASMTL-AS1, 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, CA5BP1-CA5B, CACNA1F, CAPN6, CASK, CBLL2, CCDC120, CCDC160, CCDC22, CCNB3, CCNQ, CD40LG, CD99, CD99L2, CDK16, CDKL5, CDR1, CDX4, CENPI, CENPVL1, CENPVL2, CENPVL3, CETN2, CFAP47, CFP, CH17-340M24.3, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN4, CLCN5, CLDN2, CLDN34, CLIC2, CLTRN, CMC4, CNE-2, CNE-3, CNE-5, CNE4, CNE5, CNE6, CNE7, CNE8, CNE9, CNGA2, CNKSR2, CSAG2, COL4A5, COL4A6, COX7B, CPXCR1, CRLF2, CSAG1, CSAG3, CSF2RA, CSTF2, CT45A1, CT45A10, CT45A2, LOC121853063, LOC121853064, LOC121853065, LOC121853066, LOC121853067, LOC121853068, LOC121853069, LOC121853070, LOC121853071, LOC121853072, LOC122319696, LOC122394733, LOC286437, LOC389895, LOC645188, LOC727838, LOC728660, LOC729609, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA4-AS1, MAGEA6, MAGEA8, MAGEA8-AS1, MAGEA9, MAGEA9B, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEB6B, 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, MIR12129, MIR1264, MIR1277, MIR1298, MIR1321, MIR1468, MIR1587, MIR188, MIR18B, MIR1911, MIR1912, MIR19B2, MIR20B, MIR2114, MIR221, MIR222, MIR222HG, MIR223, MIR223HG, MIR224, MIR23C, MIR3202-1, MIR3202-2, MIR320D2, MIR325, MIR325HG, MIR361, MIR362, MIR363, MIR3672, MIR3690, 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, MIR6087, MIR6089, 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, NALF2, 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, OPSIN-LCR, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, P2RY8, PABIR2, PABIR3, 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, PIM2, PIN4, PINCR, PIR, PIR-FIGF, PJA1, PLAC1, PLCXD1, PLP1, PLP2, PLS3, PLS3-AS1, PLXNA3, PLXNB3, PLXNB3-AS1, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PNMA6F, PNPLA4, POF1B, POLA1, PORCN, PORCN-DT, POU3F4, PPEF1, PPEF1-AS1, PPP1R2C, PPP1R3F, PPP2R3B, PPP4R3C, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRKX-AS1, PRPS1, PRPS2, PRR32, PRRG1, PRRG3, PSMD10, PTCHD1, PTCHD1-AS, PUDP, PWWP3B, PWWP4, 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, SHOX, SHROOM2, SHROOM4, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A5-AS1, SLC25A53, SLC25A6, 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, SPIN4-AS1, SPRY3, SRPK3, SRPX, SRPX2, SSR4, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STAG2-AS1, STARD8, STEEP1, STK26, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYP-AS1, SYTL4, SYTL5, TAB3, TAB3-AS1, TAF1, TAF7L, TAF9B, TAFAZZIN, TASL, TBC1D25, TBC1D8B, TBL1X, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCEANC, TCP11X1, TCP11X2, TDGF1P3, 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-DT, USP51, USP9X, UTP14A, UXT, UXT-AS1, VCX3B, VAMP7, VBP1, VCX, VCX2, VCX3A, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WASIR1, WDR13, WDR44, WDR45, WNK3, WWC3, XACT, XAGE-4, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, ZBED1, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflictsVCV000160897
5.
GRCh37:
ChrX:60679-155251871
GRCh38:
ChrX:10679-156022206
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, SHOX, SHROOM2, SHROOM4, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A5-AS1, SLC25A53, SLC25A6, 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, SPIN4-AS1, SPRY3, SRPK3, SRPX, SRPX2, SSR4, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STAG2-AS1, STARD8, STEEP1, STK26, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYP-AS1, SYTL4, SYTL5, TAB3, TAB3-AS1, TAF1, TAF7L, TAF9B, TAFAZZIN, TASL, TBC1D25, TBC1D8B, TBL1X, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCEANC, TCP11X1, TCP11X2, TDGF1P3, 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-DT, USP51, USP9X, UTP14A, UXT, UXT-AS1, VAMP7, VBP1, VCX, VCX2, VCX3A, VCX3B, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WASIR1, WDR13, WDR44, WDR45, WNK3, WWC3, XACT, XAGE-4, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, ZBED1, 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, ABCB7, ABCD1, ACE2, ACOT9, ACSL4, ACTRT1, ADGRG2, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, AKAP17A,