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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh38:
ChrX:1-156040895
SMIM9, SMPX, SSR4, SSX1, TCP11X1, TMEM47, XAGE1B, XAGE2, TNMD, SSX2, XAGE3, XAGE5, SNORA35, SNORA35B, TCP11X2, TENM1, SNORA36A, SSX2B, SSX3, SSX4, TENT5D, TRO, TRPC5, XG, ZNF280C, YIPF6, YY2, ZBED1, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZBTB33, ZCCHC18, USP27X, USP27X-DT, VBP1, VCX, TRPC5OS, ZNF185, ZNF275, USP51, TRV-TAC1-2, TSC22D3, TSIX, TSPAN6, THOC2, TEX13C, TEX11, TFE3, TGIF2LX, USP11, USP26, TEX13A, TEX13B, TEX13D, TEX28, TFDP3, TBC1D25, TBC1D8B, TAF1, SSX7, STAG2, SSX4B, SSX5, STAG2-AS1, STARD8, STEEP1, STK26, TAF7L, TAF9B, TAFAZZIN, TASL, SNORD3E, SNORD61, SNORD96B, SNORA48B, SNORA56, SNORA69, SNX12, SOWAHD, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SNORA70, SLITRK4, SMARCA1, SMC1A, SMIM10, SMIM10L2A, SMIM10L2B, SMIM10L2B-AS1, SMS, SNORA109, SNORA11, SNORA11C, SNORA11D, SNORA11E, SNORA11G, SOX3, SPACA5, SPACA5B, SPANXA1, SPANXA2, SPANXA2-OT1, SPANXN3, SPANXN4, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SPIN4-AS1, SPRY3, SRPK3, SRPX, SRPX2, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, TAB3-AS1, SYN1, SYP, SYP-AS1, SYTL4, SYTL5, TAB3, TBL1X, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCEANC, TIMM17B, TIMM8A, TIMP1, TKTL1, TLR7, TLR8, TLR8-AS1, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMLHE, TMLHE-AS1, TMSB15A, TMSB15B, TMSB15B-AS1, TMSB4X, TRAPPC2, TREX2, TRI-GAT1-1, TRI-GAT1-2, TRI-GAT1-3, TRMT2B, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, UPRT, UBE2A, UBE2NL, UBL4A, UBQLN2, UPF3B, USP9X, UTP14A, UXT, UXT-AS1, VAMP7, VCX2, VCX3A, VCX3B, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WASIR1, WDR13, WDR44, WDR45, WNK3, WWC3, XACT, XAGE-4, XAGE1A, XIAP, XIST, XK, XKRX, XPNPEP2, ZDHHC15, ZDHHC9, ZFP92, ZFX, ZFX-AS1, ZIC3, ZMAT1, ZMYM3, ZNF157, ZNF182, 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, 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, GATA1, GCNA, GK-AS1, GDI1, GDPD2, GEMIN8, GJB1, GK, 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, LINC00106, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC00102, 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, 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, LOC286437, LOC389895, LOC645188, LOC728660, LOC729609, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA10-MAGEA5, 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, 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
Schizophrenia, Autistic disorder of childhood onsetPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000488014
2.
GRCh37:
ChrX:60001-155260560
GRCh38:
ChrX:10001-156030895
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, 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, 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, LOC286437, LOC389895, LOC645188, LOC728660, LOC729609, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA10-MAGEA5, 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
See casesPathogenic
(Oct 30, 2010)
no assertion criteria providedVCV000146764
3.
GRCh37:
ChrX:60479-53957191
GRCh38:
ChrX:10479-54179172
ACE2, ACOT9, ADGRG2, AKAP17A, AKAP4, AMELX, ANOS1, AP1S2, APOO, ARAF, ARHGAP6, ARSD, ARSD-AS1, ARSF, ARSH, ARSL, ARX, ASB11, ASB9, ASMT, ASMTL, ASMTL-AS1, ATP6AP2, ATXN3L, BCLAF3, BCOR, BEND2, BMP15, BMX, CA5B, CA5BP1-CA5B, CACNA1F, CASK, CBLL2, CCDC120, CCDC22, CCNB3, CD99, CDK16, CDKL5, CENPVL1, CENPVL2, CENPVL3, CFAP47, CFP, CHST7, CLCN4, CLCN5, CLDN34, CLTRN, CNE-2, CNE-3, CNE-5, CNE4, CNE5, CNE6, CNE7, CNE8, CNE9, CNKSR2, CRLF2, CSF2RA, CTPS2, CXorf22, CXorf30, CXorf38, CXorf58, CYBB, DCAF8L1, DCAF8L2, DDX3X, DDX53, DGKK, DHRSX, DIPK2B, DMD, DUSP21, DYNLT3, EBP, EFHC2, EGFL6, EIF1AX, EIF1AX-AS1, EIF2S3, ELK1, ERAS, EZHIP, FAM120C, FAM156A, FAM156B, FAM47A, FAM47B, FAM47C, FAM9A, FAM9B, FAM9C, FANCB, FLICR, FOXP3, FRMPD4, FRMPD4-AS1, FTHL17, FTSJ1, FUNDC1, GAGE1, GAGE10, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GEMIN8, GK, GK-AS1, GLOD5, GLRA2, GPKOW, GPM6B, GPR143, GPR173, GPR34, GPR82, GRIPAP1, GRPR, GS1-594A7.3, GS1-600G8.3, GSPT2, GTPBP6, GYG2, H2AL3, H2AP, HCCS, HDAC6, HSD17B10, HUWE1, IL1RAPL1, IL3RA, INE1, INE2, IQSEC2, JADE3, KANTR, KCND1, LANCL3, KDM5C, KDM6A, KLHL15, KLHL34, KRBOX4, LINC00102, LINC00106, LINC00685, LINC01186, LINC01203, LINC01204, LINC01281, LINC01282, LINC01284, LINC01456, LINC01496, LINC01545, LINC01546, LINC01560, LINC02154, LINC02595, LINC02601, LOC101927476, LOC101928201, LOC101928389, LOC101928564, LOC101928627, LOC105373133, LOC105373156, LOC106029240, LOC106029241, LOC106799844, LOC107652445, LOC107985657, LOC107985687, LOC108251802, LOC108251803, LOC108410393, LOC109610631, LOC110120592, LOC110120593, LOC110120594, LOC110120595, LOC110120596, LOC110120597, LOC111242786, LOC111365193, LOC111365200, LOC111365226, LOC111556151, LOC113845783, LOC113845784, LOC113845789, LOC113875006, LOC113875013, LOC113875017, LOC113875018, LOC113875019, LOC113875020, LOC113875021, LOC113875022, LOC113875023, LOC113875024, LOC113875025, LOC113875026, LOC113875027, LOC113875028, LOC113875029, LOC113875030, LOC113875031, LOC113875032, LOC113875033, LOC113875037, LOC113875040, LOC114022706, LOC114022707, LOC116309138, LOC116309139, LOC116309142, LOC116309143, LOC116309144, LOC116309145, LOC116309146, LOC116309147, LOC116309148, LOC116309149, LOC116309150, LOC116309151, LOC116309152, LOC116309153, LOC116309154, LOC116309155, 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, LOC729609, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEB6B, MAGED1, MAGED4, MAGED4B, MAGIX, MAOA, MAOB, MAP3K15, MAP7D2, MBTPS2, MED14, MED14OS, MID1, MID1IP1, MID1IP1-AS1, MIR1587, MIR188, MIR221, MIR222, MIR222HG, MIR23C, MIR362, MIR3690, MIR3915, MIR3937, MIR4666B, MIR4767, MIR4768, MIR4769, MIR4770, MIR500A, MIR500B, MIR501, MIR502, MIR532, MIR548AJ2, MIR548AM, MIR548AX, MIR548F5, MIR6086, MIR6089, MIR6134, MIR651, MIR660, MIR6857, MIR6894, MIR6895, MIR8088, MIR98, MIRLET7F2, MOSPD2, MPC1L, MSL3, MXRA5, NDP, NDP-AS1, NDUFB11, NHS, NHS-AS1, NLGN4X, NR0B1, NUDT10, NUDT11, NYX, OFD1, OTC, OTUD5, P2RY8, PAGE1, PAGE4, PCSK1N, PCYT1B, PCYT1B-AS1, PDHA1, PDK3, PHEX, PHEX-AS1, PHF8, PHKA2, PHKA2-AS1, PIGA, PIM2, PINCR, PIR, PIR-FIGF, PLCXD1, PLP2, PNPLA4, POLA1, PORCN, PORCN-DT, PPEF1, PPEF1-AS1, PPP1R2C, PPP1R3F, PPP2R3B, PPP4R3C, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRKX-AS1, PRPS2, PRRG1, PTCHD1, PTCHD1-AS, PUDP, RAB9A, RAI2, RBBP7, RBM10, RBM3, REPS2, RGN, RIBC1, RP2, RPGR, RPS6KA3, RS1, S100G, SAT1, SCARNA23, SCARNA9L, SCML1, SCML2, SH3KBP1, SHOX, SHROOM2, SHROOM4, SLC25A6, SLC35A2, SLC38A5, SLC9A7, SMC1A, SMPX, SMS, SNORA11C, SNORA11D, SNORA11E, SNORA48B, SPACA5, SPACA5B, SPANXN5, SRPX, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYP-AS1, SYTL5, TAB3, TAB3-AS1, TASL, TBC1D25, TBL1X, TCEANC, TFE3, TIMM17B, TIMP1, TLR7, TLR8, TLR8-AS1, TMEM47, TMSB4X, TRAPPC2, TRI-GAT1-1, TRI-GAT1-2, TRI-GAT1-3, TRV-TAC1-2, TSPAN7, TSPYL2, TXLNG, UBA1, USP11, USP27X, USP27X-DT, USP9X, UXT, UXT-AS1, VCX, VCX2, VCX3A, VCX3B, VEGFD, WAS, WDR13, XAGE5, WDR45, WWC3, XAGE1A, XAGE1B, XAGE2, XAGE3, XG, XK, YY2, ZBED1, ZFX, ZFX-AS1, ZNF157, ZNF182, ZNF41, ZNF630, ZNF630-AS1, ZNF674, ZNF674-AS1, ZNF81, ZRSR2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059946
4.
GRCh37:
ChrX:60679-155242832
GRCh38:
ChrX:10679-156013167
TKTL1, TSIX, TSPAN6, ZBTB33, ZC3H12B, ZNF182, ZNF185, ZNF275, ZNF280C, ZXDB, USP11, USP26, USP27X, USP27X-DT, USP51, VBP1, VCX, VCX2, VSIG4, WAS, WDR44, WDR45, WDR13, ZMAT1, ZMYM3, ZNF157, TLR7, TMEM164, TMEM187, TLR8-AS1, TMEM185A, TMEM255A, TMEM31, TMEM35A, TLR8, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, 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, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, UPRT, UBE2A, UBE2NL, UBL4A, UBQLN2, UPF3B, USP9X, UTP14A, UXT, UXT-AS1, VAMP7, VCX3A, VCX3B, VEGFD, VGLL1, VMA21, VSIG1, WNK3, WWC3, XACT, XAGE-4, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, ZBED1, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZFP92, ZFX, ZFX-AS1, ZIC3, ZNF41, ZNF449, ZNF630, ZNF630-AS1, ZNF674, ZNF674-AS1, ZNF711, ZNF75D, ZNF81, ZRSR2, ZXDA, 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, COL4A5, COL4A6, COX7B, CPXCR1, CRLF2, CSAG1, CSAG2, 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, 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, LOC286437, LOC389895, LOC645188, LOC728660, LOC729609, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA10-MAGEA5, 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, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX13C, TEX13D, TEX28
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000160983
5.
GRCh37:
ChrX:60679-155251871
GRCh38:
ChrX:10679-156022206
GJB1, HEPH, HMGB3, LAGE3, LOC101928336, LOC101928389, LOC108410393, LOC113875007, LOC113875008, LOC116309144, LOC116309145, LOC116309146, LOC116309147, LOC116309148, LOC119407420, LOC119407421, LOC119407422, LOC286437, LOC389895, MAGEC1, MIR1468, MIR1587, MIR188, MIR18B, MIR1911, MIR4666B, MIR4767, MIR651, MIR8088, MIR888, MIR890, MIR891A, MIR891B, MIR652, MIR660, MIR766, MIR767, MIR664B, MIR676, MIR6857, MIR6858, MIR4770, MIR500A, MIR503, MIR505, MIR506, MIR507, MIR508, MIR6894, MIR6895, MIR718, MIR764, MIR4768, MIR4769, MIR500B, MIR501, MIR502, MIR325, MIR325HG, MIR20B, MIR1912, MIR19B2, MIR2114, MIR221, MIR222, MIR222HG, MIR223, MIR223HG, MIR503HG, MIR504, MIR509-1, MIR509-2, MAGEE2, MAGEH1, MIR224, MIR23C, MIR3202-1, MAGEC3, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGIX, MIR3202-2, MIR320D2, LUZP4, MAGEA10-MAGEA5, MAGEA11, MAGEA12, LOC645188, MAGEA1, MAGEA10, MAGEC2, LOC728660, LOC729609, LONRF3, LPAR4, LRCH2, LOC117134593, LOC116309149, LOC116309150, LOC116309156, LOC116309160, LOC116309161, LOC116309162, LOC116309151, LOC116309152, LOC116309153, LOC116309154, LOC116309155, LOC116309157, LOC116309158, LOC116309159, LOC113875012, LOC113875013, LOC113875014, LOC113875015, LOC113875016, LOC113875017, LOC113875020, LOC113875021, LOC113875022, LOC113875018, LOC113875019, LOC113875023, LOC113875024, LOC113875009, LOC113875010, LOC113875011, LOC110120711, LOC110120737, LOC110120761, LOC109286564, LOC109396974, LOC109504725, LOC109610631, LOC110120592, LOC110120593, LOC110120594, LOC108511947, LOC108663984, LOC110120595, LOC110120596, LOC110120597, LOC110120679, LOC110120680, LOC105373133, LOC105373156, LOC105373244, LOC105373311, LOC105373383, LOC105377213, LOC106029240, LOC106029241, LOC106050102, LOC106050103, LINC00106, LINC00269, LINC00629, LOC106146143, LOC106146144, LOC106146150, LOC101928437, LOC101928495, LOC101928627, LOC105373338, LOC105373378, LOC101928564, GLUD2, LINC00685, HMGN5, HNRNPH2, GNG5P2, GNL3L, HSFX2, LINC00630, LINC00632, LINC00891, LINC00892, LINC01186, LINC01201, LINC01203, LINC01204, LINC01278, LINC01281, LINC00850, LINC00889, HSFX3, HSFX4, HTATSF1, IL9R, INE1, INE2, INTS6L, INTS6L-AS1, IQSEC2, HTR2C, IL2RG, IL3RA, GPR82, GPR119, GPRASP1, GPR50, GPR143, GPR173, GPR174, GPR34, GPR50-AS1, FRAXE, GABRA3, FRAXA, FLNA, FMR1, FMR1-AS1, FMR1NB, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FRMPD3-AS1, FRMPD4, FRMPD4-AS1, FTHL17, FTSJ1, FTX, FUNDC1, FUNDC2, G6PD, GAB3, 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, GK, GK-AS1, GLA, GLOD5, GLRA2, GPC3, GPC3-AS1, GPC4, GPKOW, GPM6B, GPR101, 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, HPRT1, HS6ST2, HS6ST2-AS1, HSD17B10, HSFX1, HUWE1, IDH3G, IDS, IGBP1, IGSF1, IKBKG, IL13RA1, IL13RA2, IL1RAPL1, IL1RAPL2, 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, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC00102, LINC01282, LINC01284, LINC01285, LINC01402, LINC01456, LINC01496, LINC01545, LINC01546, LINC01560, LINC02154, LINC02243, LINC02589, LINC02595, LINC02601, LOC100126447, LOC100132741, LOC100506790, LOC100509091, LOC101059915, LOC101927476, LOC101927830, LOC101928128, LOC101928201, LOC101928335, LOC106146151, LOC106146152, LOC106799844, LOC107032760, LOC107032825, LOC107048982, LOC107048984, LOC107181288, LOC107522039, LOC107652445, LOC107838685, LOC107985657, LOC107985687, LOC107988021, LOC107988022, LOC107988024, LOC107988025, LOC107988032, LOC107988033, LOC108251802, LOC108251803, LOC108281126, LOC108281134, LOC110121198, LOC110121199, LOC111242786, LOC111365170, LOC111365174, LOC111365193, LOC111365200, LOC111365226, LOC111429618, LOC111464987, LOC111556151, LOC111589209, LOC111828531, LOC113845780, LOC113845781, LOC113845782, LOC113845783, LOC113845784, LOC113845785, LOC113845786, LOC113845787, LOC113845788, LOC113845789, LOC113875006, LOC113875025, LOC113875026, LOC113875027, LOC113875028, LOC113875029, LOC113875030, LOC113875031, LOC113875032, LOC113875033, LOC113875034, LOC113875035, LOC113875036, LOC113875037, LOC113875038, LOC113875039, LOC113875040, LOC114022705, LOC114022706, LOC114022707, LOC114022708, LOC116309138, LOC116309139, LOC116309142, LOC116309143, LOC118966792, LOC119369038, LOC119369039, LOC119407397, LOC119407398, LOC119407399, LOC119407400, LOC119407401, LOC119407402, LOC119407403, LOC119407404, LOC119407405, LOC119407406, LOC119407407, LOC119407408, LOC119407411, LOC119407412, LOC119407413, LOC119407414, LOC119407415, LOC119407416, LOC119407417, LOC119407418, LOC119407419, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA4-AS1, MAGEA6, MAGEA8, MAGEA8-AS1, MAGEA9, MAGEA9B, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEB6B, 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, 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, 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, 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, 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, COL4A5, COL4A6, COX7B, CPXCR1, CRLF2, CSAG1, CSAG2, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflictsVCV000160897
6.
GRCh37:
ChrX:60679-155251871
GRCh38:
ChrX:10679-156022206