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Items: 85

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:77369264
GRCh38:
ChrX:78113767
PGK1Phosphoglycerate kinase 1 deficiencyPathogenic
(Feb 1, 2006)
no assertion criteria provided
2.
GRCh37:
ChrX:77369387
GRCh38:
ChrX:78113890
PGK1Phosphoglycerate kinase 1 deficiencyPathogenic
(Mar 15, 1991)
no assertion criteria provided
3.
GRCh37:
ChrX:77372864
GRCh38:
ChrX:78117367
PGK1Phosphoglycerate kinase 1 deficiencyPathogenic
(Mar 15, 1992)
no assertion criteria provided
4.
GRCh37:
ChrX:77372882
GRCh38:
ChrX:78117385
PGK1Phosphoglycerate kinase 1 deficiencyPathogenic
(Jul 1, 2006)
no assertion criteria provided
5.
GRCh37:
ChrX:77373600-77373602
GRCh38:
ChrX:78118103-78118105
PGK1Phosphoglycerate kinase 1 deficiencyPathogenic
(Jan 1, 1995)
no assertion criteria provided
6.
GRCh37:
ChrX:77373643
GRCh38:
ChrX:78118146
PGK1Phosphoglycerate kinase 1 deficiencyPathogenic
(Sep 1, 1980)
no assertion criteria provided
7.
GRCh37:
ChrX:77373665
GRCh38:
ChrX:78118168
PGK1not providedUncertain significance
(Dec 20, 2013)
criteria provided, single submitter
8.
GRCh37:
ChrX:77378451
GRCh38:
ChrX:78122954
PGK1Phosphoglycerate kinase 1 deficiencyPathogenic
(Mar 28, 2006)
no assertion criteria provided
9.
GRCh37:
ChrX:77378693
GRCh38:
ChrX:78123196
PGK1Phosphoglycerate kinase 1 deficiencyPathogenic
(Jun 1, 2006)
no assertion criteria provided
10.
GRCh37:
ChrX:77378731-77378733
GRCh38:
ChrX:78123234-78123236
PGK1Phosphoglycerate kinase 1 deficiencyPathogenic
(Apr 1, 1981)
no assertion criteria provided
11.
GRCh37:
ChrX:77378737
GRCh38:
ChrX:78123240
PGK1Phosphoglycerate kinase 1 deficiencyPathogenic
(Jul 10, 1980)
no assertion criteria provided
12.
GRCh37:
ChrX:77378789
GRCh38:
ChrX:78123292
PGK1Phosphoglycerate kinase 1 deficiencyPathogenic
(Jan 1, 1998)
no assertion criteria provided
13.
GRCh37:
ChrX:77380380
GRCh38:
ChrX:78124883
PGK1Phosphoglycerate kinase 1 deficiencyPathogenic
(May 15, 1992)
no assertion criteria provided
14.
GRCh37:
ChrX:77380393
GRCh38:
ChrX:78124896
PGK1Phosphoglycerate kinase 1 deficiencyPathogenic
(Feb 1, 2006)
no assertion criteria provided
15.
GRCh37:
ChrX:77380489
GRCh38:
ChrX:78124992
PGK1Phosphoglycerate kinase electrophoretic variant PGK IIother
(Apr 12, 2012)
no assertion criteria provided
16.
GRCh37:
ChrX:77380548
GRCh38:
ChrX:78125051
PGK1not providedUncertain significance
(May 7, 2015)
criteria provided, single submitter
17.
GRCh37:
ChrX:77380841
GRCh38:
ChrX:78125344
PGK1Phosphoglycerate kinase 1 deficiencyPathogenic
(Mar 1, 2009)
no assertion criteria provided
18.
GRCh37:
ChrX:76102-155226096
GRCh38:
ChrX:26102-155996431
ABCB7, AGTR2, NR0B1, ALAS2, ABCD1, AMELX, SLC25A5, SLC25A6, XIAP, SHROOM2, AR, ARAF, ARHGAP4, ARHGAP6, ARR3, STS, ARSD, ARSE, ARSF, ASMT, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BGN, BMX, BRS3, BTK, CACNA1F, S100G, CAPN6, CD40LG, CDR1, CDX4, CETN2, CHM, CLCN4, CLCN5, CLIC2, CNGA2, COL4A5, COL4A6, COX7B, CSF2RA, CSTF2, CTAG1B, TEX28, CYBB, CYLC1, DCX, DDX3X, TIMM8A, DIAPH2, DKC1, DLG3, DMD, DNASE1L1, DRP2, TSC22D3, DUSP9, EDA, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, EMD, F8, F9, ACSL4, FANCB, GPC4, FGD1, FGF13, FHL1, FIGF, FLNA, FMR1, AFF2, CENPI, G6PD, GAGE1, GABRA3, GABRE, GAGE2C, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GPC3, GLRA2, GLUD2, GPM6B, CXCR3, LPAR4, GPR34, GRIA3, GRPR, GUCY2F, HSD17B10, HCCS, HCFC1, HMGB3, HNRNPH2, HPRT1, ERAS, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IL2RG, IL3RA, IL13RA1, IL13RA2, IRAK1, ANOS1, KCND1, L1CAM, LAMP2, PRICKLE3, SH2D1A, MAGEA1, MAGEA2, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA10, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MCF2, MECP2, CD99, MID1, FOXO4, MPP1, CITED1, MSN, MTCP1, MTM1, MYCLP1, NAP1L2, NAP1L3, NDP, NDUFA1, NHS, NONO, GPR143, TBC1D25, OCRL, OPHN1, OTC, P2RY4, PAK3, CDK16, PDHA1, PDK3, CFP, PFKFB1, PGK1, PHEX, PHKA1, PHKA2, PIGA, PIN4, PLP1, PLP2, PLS3, PLXNB3, POLA1, POU3F4, PPEF1, PRKX, PRPS1, PRPS2, PRRG1, PSMD10, RBBP7, RBM3, OPN1LW, RENBP, RP2, RPGR, RPL10, RPL39, RPL36A, RPS4X, RPS6KA3, RS1, SAT1, SCML1, TRAPPC2, SH3BGRL, SHOX, SLC6A8, SLC16A2, SMARCA1, SMS, SOX3, SSR4, SSX1, SSX2, SSX5, SSX4, CDKL5, SUV39H1, VAMP7, SYN1, SYP, TAF1, TAZ, SERPINA7, TBL1X, DYNLT3, TFE3, TIMP1, TSPAN7, TSPAN6, TMSB4X, TRO, TRPC5, UBA1, UBE2A, SLC35A2, KDM6A, VBP1, WAS, XG, XIST, XK, XPNPEP2, ZFX, ZIC3, ZNF711, ZNF182, ZNF41, ZNF75D, ZNF157, RNF113A, ZNF185, ZXDA, GTPBP6, PUDP, AKAP17A, PNPLA4, ZRSR2, USP11, USP9X, RBM10, KDM5C, SMC1A, NAA10, F8A1, UBL4A, TMEM187, LAGE3, SLC10A3, TKTL1, SRPX, UXT, CUL4B, IRS4, OGT, OFD1, IKBKG, PIR, INE2, INE1, CASK, ASMTL, PAGE1, MTMR1, FGF16, AKAP4, APLN, AP1S2, GYG2, FAM127A, SLC25A14, CLDN2, RGN, FAM50A, AIFM1, TMEM257, REPS2, ZBED1, ZMYM3, BMP15, GPR50, MED14, TCEAL1, RAB33A, RAB9A, TSIX, ITM2A, ARHGEF6, PCYT1B, MAGED1, XAGE2, PAGE4, MORF4L2, GPRASP1, STARD8, FRMPD4, JADE3, ARMCX2, HEPH, MAGEC1, AMMECR1, MED12, ZBTB33, HDAC6, MAMLD1, HUWE1, PQBP1, BCAP31, ADGRG2, ATP6AP2, TENM1, SSX3, TIMM17B, SPRY3, RRAGB, SCML2, SLC9A6, ENOX2, PRDX4, EBP, STAG2, RAI2, PLAC1, CYSLTR1, UTP14A, DIAPH2-AS1, ZNF275, PGRMC1, MAGED2, MSL3, TMSB15A, PIM2, MID2, IL1RAPL1, WDR45, TREX2, PRAF2, CA5B, SLC6A14, KLF8, VSIG4, CNKSR2, IQSEC2, PHF8, SEPT6, ARHGEF9, ATP1B4, ACOT9, KCNE5, LDOC1, SMPX, GSPT2, KIF4A, FTSJ1, HYPM, MXRA5, EGFL6, FAM127B, IL1RAPL2, ITGB1BP2, SRPK3, VCX, GAGE12I, GAGE2E, SNORA70, SNORA69, SNORD61, BEX3, NOX1, FAM155B, INGX, GPR82, GPKOW, SRPX2, APEX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, PCSK1N, PPP2R3B, CCDC22, MCTS1, MAGEH1, FAM156A, C1GALT1C1, SNX12, RPA4, PNMA3, UBQLN2, SH3KBP1, SPANXA1, CTAG2, NSDHL, FOXP3, TBX22, ZDHHC9, RLIM, TCEAL9, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, TLR7, ARMCX1, TLR8, MBTPS2, MAGEC2, VGLL1, VCX2, VCX3A, ARMCX3, TAF9B, RBMX2, STK26, CPXCR1, CHIC1, FTHL17, GPR173, NLGN3, SASH3, TAF7L, SPIN2A, ARMCX6, WDR44, NDUFB11, GNL3L, ERCC6L, NUP62CL, GDPD2, BCOR, TBC1D8B, FAM120C, GEMIN8, CT55, TMEM255A, CXorf57, NUDT11, TMLHE, RBM41, PLCXD1, SAGE1, PLXNA3, HAUS7, OTUD5, ZNF280C, MTMR8, KRBOX4, TXLNG, MBNL3, WWC3, BEX1, HDAC8, GABRQ, ZC4H2, NXT2, NKRF, NXF5, NXF4, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, CTPS2, CHST7, TCEAL7, GRIPAP1, THOC2, ZNF630, TMEM27, SHROOM4, KIAA1210, NLGN4X, PCDH19, RGAG1, PDZD4, LRCH2, MAGEE1, RAP2C, MID1IP1, ACE2, TMEM35A, FAM3A, EDA2R, NYX, BCORL1, DUSP21, CXorf56, DMRTC1, TSPYL2, TNMD, CRLF2, PJA1, SPANXD, SPANXC, WDR13, PORCN, ARMCX5, UPF3B, WNK3, FUNDC2, PRRG3, APOO, BRCC3, HMGN5, NKAP, RNF128, MAP7D3, MORC4, CXorf36, LONRF3, ALG13, MAGIX, TCEAL4, TRMT2B, POF1B, ASMTL-AS1, CXorf21, EFHC2, KLHL15, ESX1, BHLHB9, MAGED4B, LAS1L, GPR101, TMEM47, CD99L2, H2AFB3, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, TMEM185A, SLITRK2, GPR174, SLC9A7, BEX2, MIR503HG, SLC7A3, PNMA6A, TCEAL3, CCNB3, PPP1R3F, FATE1, CCDC120, TSR2, HS6ST2, FRMD7, KLHL13, TGIF2LX, FAM104B, PAGE5, TCEAL8, CHRDL1, CXorf40A, FAM58A, RIPPLY1, LINC01278, ATXN3L, SLC38A5, MMGT1, ACRC, SYAP1, SYTL4, SYTL5, PNMA5, GPRASP2, ATG4A, RAB39B, DACH2, SLITRK4, SPANXN3, MAGEC3, BEND2, PASD1, DCAF12L1, DGKK, PIH1D3, MUM1L1, FAM199X, AMER1, APOOL, HDX, FUNDC1, ADGRG4, PTCHD1, MAGEB10, DCAF8L1, OTUD6A, UPRT, MAGEE2, MAGEB16, FOXR2, XAGE-4, GAB3, PNCK, ZFP92, ACTRT1, GPR119, PAGE3, RBMXL3, DOCK11, SPIN4, ASB11, ASB9, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, ZNF645, CSAG1, FMR1NB, USP27X-AS1, FAAH2, ZXDB, LINC00889, FAM47A, MOSPD2, ARHGAP36, RIBC1, AKAP14, RHOXF1, MAGEB6, CXorf65, AWAT1, AWAT2, ZDHHC15, USP51, TCEAL6, CH17-340M24.3, H2BFWT, CXorf38, FAM122B, FAM122C, DDX53, FAM46D, SPIN3, FAM47B, CXorf22, SUPT20HL2, TCEANC, ZCCHC12, ARX, XAGE3, XAGE5, NUDT10, FAM9A, FAM9B, FAM9C, CT83, LINC01560, SLC25A43, FAM226A, ZCCHC5, NRK, INTS6L, ZNF449, VMA21, TMEM31, PAGE2, DHRSX, CTAG1A, BRWD3, CXorf58, CT47A11, CXorf23, MAP7D2, KLHL34, TAB3, MAGEA2B, SSX6, SSX7, SSX8, SSX9, RAB40AL, LINC00685, ATP11C, LINC00632, NLRP2B, H2BFM, LOC286437, LINC01281, YIPF6, CFAP47, FIRRE, BRAFP1, FAM133A, MAGEB18, TMSB15B, P2RY8, FAM223B, RGAG4, NHSL2, PABPC1L2A, KIAA2022, BEX5, TCEAL5, MORF4L2-AS1, VSIG1, ZC3H12B, SATL1, DCAF12L2, LOC340581, ZCCHC16, LHFPL1, CXorf67, ZNF81, ITIH6, LANCL3, MPC1L, DCAF8L2, SOWAHD, OR13H1, CCDC160, CXorf66, DGAT2L6, RAB41, ARSH, MAGEB5, TLR8-AS1, MAP3K15, SPACA5, USP27X, PAGE2B, ZCCHC13, LOC389895, UBE2NL, CSAG3, GLOD5, FLJ44635, ARL13A, SMIM10L2A, LOC401585, ZNF674-AS1, SLC25A53, LINC00890, XKRX, YY2, MIRLET7F2, MIR105-1, MIR105-2, MIR106A, MIR188, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR92A2, MIR98, VCX3B, FTH1P18, LINC00891, GLRA4, FAM127C, CT45A3, CT45A5, SPANXN4, PGAM4, FAM47C, MIR325, MIR374A, SPIN2B, H2AFB2, H2AFB1, F8A2, F8A3, SPANXN1, SPANXN2, SPANXN5, MIR361, MIR384, MIR424, CT45A6, CT45A1, CXorf40B, SSX4B, LINC01420, JPX, MIR448, MIR450A1, MIR362, MIR363, MIR20B, MIR18B, MIR452, MIR500A, MIR501, MIR502, MIR450A2, MIR503, MIR504, MIR505, MIR513A1, MIR513A2, MIR506, MIR507, MIR508, MIR509-1, MIR510, MIR514A1, MIR514A2, MIR514A3, SPANXA2-OT1, ZNF674, DANT2, CT47B1, ZCCHC18, SMIM10, SMIM10L2B, SAGE2P, GAGE2B, GAGE13, GAGE12G, CXorf30, LOC645188, MAGEB17, PABPC1L2B, XAGE1E, XAGE1B, CT47A7, FAM226B, MIR545, MIR542, SCARNA23, SNORA11, SNORA35, SNORA36A, SNORA56, SNORD96B, MIR421, MIR532, MIR651, MIR652, MIR660, LINC01545, SSX2B, FAM156B, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGED4, MAGEA9B, NXF2B, OPN1MW2, DMRTC1B, SPANXB1, SPANXA2, CT45A2, SPACA5B, GAGE12J, GAGE2D, GAGE12C, GAGE12B, GAGE12E, GAGE12H, GAGE2A, LOC729609, LINC00106, MIR767, MIR766, GAGE12F, GS1-600G8.3, GAGE8, SNORA11C, SNORA11D, FMR1-AS1, MIR509-2, MIR450B, MIR890, MIR891B, MIR888, MIR892B, MIR374B, MIR934, MIR509-3, MIR891A, MIR892A, LOC100126447, LINC00892, ARMCX3-AS1, GPR50-AS1, CXorf51A, LINC00684, LINC01546, LINC00633, TEX13C, FGF13-AS1, HSFX2, SUPT20HL1, CXorf49, PRR32, LINC00893, ARMCX4, PHKA2-AS1, LOC100132304, GAGE12D, LOC100132741, SMIM9, FAM223A, CXorf49B, CXorf51B, LINC01203, UXT-AS1, SCARNA9L, TRI-GAT1-2, TRI-GAT1-1, TRV-TAC1-2, TRI-GAT1-3, CMC4, LINC00894, LOC100287728, LINC00630, CLDN34, MIR1184-1, MIR513C, MIR1468, MIR1912, MIR1298, MIR320D2, MIR1321, MIR548I4, MIR1277, MIR1911, MIR548F5, MIR1264, FTX, SLC25A5-AS1, MIR548M, MIR718, MIR513B, MIR764, MIR2114, TRPC5OS, LINC00102, MIR514B, MIR3202-2, MIR500B, MIR4330, MIR4328, MIR1184-3, MIR1184-2, MIR3202-1, MIR4329, MTRNR2L10, MIR374C, MIR23C, MIR3937, MIR3672, MIR676, MIR3690, MIR3915, HSFX1, LINC00629, LOC100506790, CT47A12, TMLHE-AS1, LOC100509091, ARMCX5-GPRASP2, RPL36A-HNRNPH2, PIR-FIGF, MAGEA10-MAGEA5, MIR548AN, MIR4769, MIR4536-1, MIR4768, MIR1587, MIR548AJ2, MIR4770, MIR548AM, MIR4767, MIR3978, MIR4666B, MIR664B, MIR4536-2, MIR548AX, PTCHD1-AS, RNU6-30P, NHS-AS1, SYP-AS1, ZFX-AS1, DLG3-AS1, PHEX-AS1, PRKX-AS1, MED14OS, HCFC1-AS1, PPEF1-AS1, EIF1AX-AS1, PCYT1B-AS1, HS6ST2-AS1, INTS6L-AS1, ZNF630-AS1, FRMPD3-AS1, MID1IP1-AS1, ARHGEF9-IT1, LINC00269, LCA10, TCP11X2, LOC101059915, CT45A7, OPN1MW3, LINC00850, SNORA11E, MAGEA8-AS1, LINC01284, PLS3-AS1, LINC01282, LOC101927476, LOC101927501, LINC01204, LINC01186, LOC101927635, LOC101927685, LOC101927830, LOC101928128, LOC101928201, LOC101928259, LINC01285, LOC101928335, LOC101928336, PABPC1L2B-AS1, LOC101928358, LOC101928389, LOC101928402, LOC101928437, MIR325HG, LOC101928495, LOC101928564, RAP2C-AS1, LOC101928627, LOC101928917, RHOXF1P1, RHOXF1-AS1, MIR6087, MIR6089, MIR6134, MIR6857, MIR6858, MIR6895, MIR6086, MIR892C, MIR6894, MIR8088, LINC01496, KANTR, CSAG2, CT45A10, CT45A9, CT45A8, PABPC5-AS1, GAGE10, LINC01201, LINC01402, GS1-594A7.3, LINC01456, LOC105373156, LOC105373185, LOC105373300, LOC105373311, LOC105373338, LOC105373368, LOC105373378, LOC105373383, LOC105377213, XACT, SNORA109
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
19.
GRCh37:
ChrX:64245-155228958
GRCh38:
ChrX:14245-155999293
ABCB7, AGTR2, NR0B1, ALAS2, ABCD1, AMELX, SLC25A5, SLC25A6, XIAP, SHROOM2, AR, ARAF, ARHGAP4, ARHGAP6, ARR3, STS, ARSD, ARSE, ARSF, ASMT, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BGN, BMX, BRS3, BTK, CACNA1F, S100G, CAPN6, CD40LG, CDR1, CDX4, CETN2, CHM, CLCN4, CLCN5, CLIC2, CNGA2, COL4A5, COL4A6, COX7B, CSF2RA, CSTF2, CTAG1B, TEX28, CYBB, CYLC1, DCX, DDX3X, TIMM8A, DIAPH2, DKC1, DLG3, DMD, DNASE1L1, DRP2, TSC22D3, DUSP9, EDA, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, EMD, F8, F9, ACSL4, FANCB, GPC4, FGD1, FGF13, FHL1, FIGF, FLNA, FMR1, AFF2, CENPI, G6PD, GAGE1, GABRA3, GABRE, GAGE2C, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GPC3, GLRA2, GLUD2, GPM6B, CXCR3, LPAR4, GPR34, GRIA3, GRPR, GUCY2F, HSD17B10, HCCS, HCFC1, HMGB3, HNRNPH2, HPRT1, ERAS, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IL2RG, IL3RA, IL9R, IL13RA1, IL13RA2, IRAK1, ANOS1, KCND1, L1CAM, LAMP2, PRICKLE3, SH2D1A, MAGEA1, MAGEA2, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA10, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MCF2, MECP2, CD99, MID1, FOXO4, MPP1, CITED1, MSN, MTCP1, MTM1, MYCLP1, NAP1L2, NAP1L3, NDP, NDUFA1, NHS, NONO, GPR143, TBC1D25, OCRL, OPHN1, OTC, P2RY4, PAK3, CDK16, PDHA1, PDK3, CFP, PFKFB1, PGK1, PHEX, PHKA1, PHKA2, PIGA, PIN4, PLP1, PLP2, PLS3, PLXNB3, POLA1, POU3F4, PPEF1, PRKX, PRPS1, PRPS2, PRRG1, PSMD10, RBBP7, RBM3, OPN1LW, RENBP, RP2, RPGR, RPL10, RPL39, RPL36A, RPS4X, RPS6KA3, RS1, SAT1, SCML1, TRAPPC2, SH3BGRL, SHOX, SLC6A8, SLC16A2, SMARCA1, SMS, SOX3, SSR4, SSX1, SSX2, SSX5, SSX4, CDKL5, SUV39H1, VAMP7, SYN1, SYP, TAF1, TAZ, SERPINA7, TBL1X, DYNLT3, TFE3, TIMP1, TSPAN7, TSPAN6, TMSB4X, TRO, TRPC5, UBA1, UBE2A, SLC35A2, KDM6A, VBP1, WAS, XG, XIST, XK, XPNPEP2, ZFX, ZIC3, ZNF711, ZNF182, ZNF41, ZNF75D, ZNF157, RNF113A, ZNF185, ZXDA, GTPBP6, PUDP, AKAP17A, PNPLA4, ZRSR2, USP11, USP9X, RBM10, KDM5C, SMC1A, NAA10, F8A1, UBL4A, TMEM187, LAGE3, SLC10A3, TKTL1, SRPX, UXT, CUL4B, IRS4, OGT, OFD1, IKBKG, PIR, INE2, INE1, CASK, ASMTL, PAGE1, MTMR1, FGF16, AKAP4, APLN, AP1S2, GYG2, FAM127A, SLC25A14, CLDN2, RGN, FAM50A, AIFM1, TMEM257, REPS2, ZBED1, ZMYM3, BMP15, GPR50, MED14, TCEAL1, RAB33A, RAB9A, TSIX, ITM2A, ARHGEF6, PCYT1B, MAGED1, XAGE2, PAGE4, MORF4L2, GPRASP1, STARD8, FRMPD4, JADE3, ARMCX2, HEPH, MAGEC1, AMMECR1, MED12, ZBTB33, HDAC6, MAMLD1, HUWE1, PQBP1, BCAP31, ADGRG2, ATP6AP2, TENM1, SSX3, TIMM17B, SPRY3, RRAGB, SCML2, SLC9A6, ENOX2, PRDX4, EBP, STAG2, RAI2, PLAC1, CYSLTR1, UTP14A, DIAPH2-AS1, ZNF275, PGRMC1, MAGED2, MSL3, TMSB15A, PIM2, MID2, IL1RAPL1, WDR45, TREX2, PRAF2, CA5B, SLC6A14, KLF8, VSIG4, CNKSR2, IQSEC2, PHF8, SEPT6, ARHGEF9, ATP1B4, ACOT9, KCNE5, LDOC1, SMPX, GSPT2, KIF4A, FTSJ1, HYPM, MXRA5, EGFL6, FAM127B, IL1RAPL2, ITGB1BP2, SRPK3, VCX, GAGE12I, GAGE2E, SNORA70, SNORA69, SNORD61, BEX3, NOX1, FAM155B, INGX, GPR82, GPKOW, SRPX2, APEX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, PCSK1N, PPP2R3B, CCDC22, MCTS1, MAGEH1, FAM156A, C1GALT1C1, SNX12, RPA4, PNMA3, UBQLN2, SH3KBP1, SPANXA1, CTAG2, NSDHL, FOXP3, TBX22, ZDHHC9, RLIM, TCEAL9, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, TLR7, ARMCX1, TLR8, MBTPS2, MAGEC2, VGLL1, VCX2, VCX3A, ARMCX3, TAF9B, RBMX2, STK26, CPXCR1, CHIC1, FTHL17, GPR173, NLGN3, SASH3, TAF7L, SPIN2A, ARMCX6, WDR44, NDUFB11, GNL3L, ERCC6L, NUP62CL, GDPD2, BCOR, TBC1D8B, FAM120C, GEMIN8, CT55, TMEM255A, CXorf57, NUDT11, TMLHE, RBM41, PLCXD1, SAGE1, PLXNA3, HAUS7, OTUD5, ZNF280C, MTMR8, KRBOX4, TXLNG, MBNL3, WWC3, BEX1, HDAC8, GABRQ, ZC4H2, NXT2, NKRF, NXF5, NXF4, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, CTPS2, CHST7, TCEAL7, GRIPAP1, THOC2, ZNF630, TMEM27, SHROOM4, KIAA1210, NLGN4X, PCDH19, RGAG1, PDZD4, LRCH2, MAGEE1, RAP2C, MID1IP1, ACE2, TMEM35A, FAM3A, EDA2R, NYX, BCORL1, DUSP21, CXorf56, DMRTC1, TSPYL2, TNMD, CRLF2, PJA1, SPANXD, SPANXC, WDR13, PORCN, ARMCX5, UPF3B, WNK3, FUNDC2, PRRG3, APOO, BRCC3, HMGN5, NKAP, RNF128, MAP7D3, MORC4, CXorf36, LONRF3, ALG13, MAGIX, TCEAL4, TRMT2B, POF1B, ASMTL-AS1, CXorf21, EFHC2, KLHL15, ESX1, BHLHB9, MAGED4B, LAS1L, GPR101, TMEM47, CD99L2, H2AFB3, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, TMEM185A, SLITRK2, GPR174, SLC9A7, BEX2, MIR503HG, SLC7A3, PNMA6A, TCEAL3, CCNB3, PPP1R3F, FATE1, CCDC120, TSR2, HS6ST2, FRMD7, KLHL13, TGIF2LX, FAM104B, PAGE5, TCEAL8, CHRDL1, CXorf40A, FAM58A, RIPPLY1, LINC01278, ATXN3L, SLC38A5, MMGT1, ACRC, SYAP1, SYTL4, SYTL5, PNMA5, GPRASP2, ATG4A, RAB39B, DACH2, SLITRK4, SPANXN3, MAGEC3, BEND2, PASD1, DCAF12L1, DGKK, PIH1D3, MUM1L1, FAM199X, AMER1, APOOL, HDX, FUNDC1, ADGRG4, PTCHD1, MAGEB10, DCAF8L1, OTUD6A, UPRT, MAGEE2, MAGEB16, FOXR2, XAGE-4, GAB3, PNCK, ZFP92, ACTRT1, GPR119, PAGE3, RBMXL3, DOCK11, SPIN4, ASB11, ASB9, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, ZNF645, CSAG1, FMR1NB, USP27X-AS1, FAAH2, ZXDB, LINC00889, FAM47A, MOSPD2, ARHGAP36, RIBC1, AKAP14, RHOXF1, MAGEB6, CXorf65, AWAT1, AWAT2, ZDHHC15, USP51, TCEAL6, CH17-340M24.3, H2BFWT, CXorf38, FAM122B, FAM122C, DDX53, FAM46D, SPIN3, FAM47B, CXorf22, SUPT20HL2, TCEANC, ZCCHC12, ARX, XAGE3, XAGE5, NUDT10, FAM9A, FAM9B, FAM9C, CT83, LINC01560, SLC25A43, FAM226A, ZCCHC5, NRK, INTS6L, ZNF449, VMA21, TMEM31, PAGE2, DHRSX, CTAG1A, BRWD3, CXorf58, CT47A11, CXorf23, MAP7D2, KLHL34, TAB3, MAGEA2B, SSX6, SSX7, SSX8, SSX9, RAB40AL, LINC00685, ATP11C, LINC00632, NLRP2B, H2BFM, LOC286437, LINC01281, YIPF6, CFAP47, FIRRE, BRAFP1, FAM133A, MAGEB18, TMSB15B, P2RY8, FAM223B, RGAG4, NHSL2, PABPC1L2A, KIAA2022, BEX5, TCEAL5, MORF4L2-AS1, VSIG1, ZC3H12B, SATL1, DCAF12L2, LOC340581, ZCCHC16, LHFPL1, CXorf67, ZNF81, ITIH6, LANCL3, MPC1L, DCAF8L2, SOWAHD, OR13H1, CCDC160, CXorf66, DGAT2L6, RAB41, ARSH, MAGEB5, TLR8-AS1, MAP3K15, SPACA5, USP27X, PAGE2B, ZCCHC13, LOC389895, UBE2NL, CSAG3, GLOD5, FLJ44635, ARL13A, SMIM10L2A, LOC401585, ZNF674-AS1, SLC25A53, LINC00890, XKRX, YY2, MIRLET7F2, MIR105-1, MIR105-2, MIR106A, MIR188, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR92A2, MIR98, VCX3B, FTH1P18, LINC00891, GLRA4, FAM127C, CT45A3, CT45A5, SPANXN4, PGAM4, FAM47C, MIR325, MIR374A, SPIN2B, H2AFB2, H2AFB1, F8A2, F8A3, SPANXN1, SPANXN2, SPANXN5, MIR361, MIR384, MIR424, CT45A6, CT45A1, CXorf40B, SSX4B, LINC01420, JPX, MIR448, MIR450A1, MIR362, MIR363, MIR20B, MIR18B, MIR452, MIR500A, MIR501, MIR502, MIR450A2, MIR503, MIR504, MIR505, MIR513A1, MIR513A2, MIR506, MIR507, MIR508, MIR509-1, MIR510, MIR514A1, MIR514A2, MIR514A3, SPANXA2-OT1, ZNF674, DANT2, CT47B1, ZCCHC18, SMIM10, SMIM10L2B, SAGE2P, GAGE2B, GAGE13, GAGE12G, CXorf30, LOC645188, MAGEB17, PABPC1L2B, XAGE1E, XAGE1B, CT47A7, FAM226B, MIR545, MIR542, SCARNA23, SNORA11, SNORA35, SNORA36A, SNORA56, SNORD96B, MIR421, MIR532, MIR651, MIR652, MIR660, LINC01545, SSX2B, FAM156B, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGED4, MAGEA9B, NXF2B, OPN1MW2, DMRTC1B, SPANXB1, SPANXA2, CT45A2, SPACA5B, GAGE12J, GAGE2D, GAGE12C, GAGE12B, GAGE12E, GAGE12H, GAGE2A, LOC729609, LINC00106, MIR767, MIR766, GAGE12F, GS1-600G8.3, GAGE8, SNORA11C, SNORA11D, FMR1-AS1, MIR509-2, MIR450B, MIR890, MIR891B, MIR888, MIR892B, MIR374B, MIR934, MIR509-3, MIR891A, MIR892A, LOC100126447, LINC00892, ARMCX3-AS1, GPR50-AS1, CXorf51A, LINC00684, LINC01546, LINC00633, TEX13C, FGF13-AS1, HSFX2, SUPT20HL1, CXorf49, PRR32, LINC00893, ARMCX4, PHKA2-AS1, LOC100132304, GAGE12D, LOC100132741, SMIM9, FAM223A, CXorf49B, CXorf51B, LINC01203, UXT-AS1, SCARNA9L, TRI-GAT1-2, TRI-GAT1-1, TRV-TAC1-2, TRI-GAT1-3, CMC4, LINC00894, LOC100287728, LINC00630, CLDN34, MIR1184-1, MIR513C, MIR1468, MIR1912, MIR1298, MIR320D2, MIR1321, MIR548I4, MIR1277, MIR1911, MIR548F5, MIR1264, FTX, SLC25A5-AS1, MIR548M, MIR718, MIR513B, MIR764, MIR2114, TRPC5OS, LINC00102, MIR514B, MIR3202-2, MIR500B, MIR4330, MIR4328, MIR1184-3, MIR1184-2, MIR3202-1, MIR4329, MTRNR2L10, MIR374C, MIR23C, MIR3937, MIR3672, MIR676, MIR3690, MIR3915, HSFX1, LINC00629, LOC100506790, CT47A12, TMLHE-AS1, LOC100509091, ARMCX5-GPRASP2, RPL36A-HNRNPH2, PIR-FIGF, MAGEA10-MAGEA5, MIR548AN, MIR4769, MIR4536-1, MIR4768, MIR1587, MIR548AJ2, MIR4770, MIR548AM, MIR4767, MIR3978, MIR4666B, MIR664B, MIR4536-2, MIR548AX, PTCHD1-AS, RNU6-30P, NHS-AS1, SYP-AS1, ZFX-AS1, DLG3-AS1, PHEX-AS1, PRKX-AS1, MED14OS, HCFC1-AS1, PPEF1-AS1, EIF1AX-AS1, PCYT1B-AS1, HS6ST2-AS1, INTS6L-AS1, ZNF630-AS1, FRMPD3-AS1, MID1IP1-AS1, ARHGEF9-IT1, LINC00269, LCA10, TCP11X2, LOC101059915, CT45A7, OPN1MW3, LINC00850, SNORA11E, MAGEA8-AS1, LINC01284, PLS3-AS1, LINC01282, LOC101927476, LOC101927501, LINC01204, LINC01186, LOC101927635, LOC101927685, LOC101927830, LOC101928128, LOC101928201, LOC101928259, LINC01285, LOC101928335, LOC101928336, PABPC1L2B-AS1, LOC101928358, LOC101928389, LOC101928402, LOC101928437, MIR325HG, LOC101928495, LOC101928564, RAP2C-AS1, LOC101928627, LOC101928917, RHOXF1P1, RHOXF1-AS1, MIR6087, MIR6089, MIR6134, MIR6857, MIR6858, MIR6895, MIR6086, MIR892C, MIR6894, MIR8088, LINC01496, KANTR, CSAG2, CT45A10, CT45A9, CT45A8, PABPC5-AS1, GAGE10, LINC01201, LINC01402, GS1-594A7.3, LINC01456, LOC105373156, LOC105373185, LOC105373300, LOC105373311, LOC105373338, LOC105373368, LOC105373378, LOC105373383, LOC105377213, XACT, SNORA109
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
20.
GRCh37:
ChrX:76102-155226096
GRCh38:
ChrX:26102-155996431
ABCB7, AGTR2, NR0B1, ALAS2, ABCD1, AMELX, SLC25A5, SLC25A6, XIAP, SHROOM2, AR, ARAF, ARHGAP4, ARHGAP6, ARR3, STS, ARSD, ARSE, ARSF, ASMT, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BGN, BMX, BRS3, BTK, CACNA1F, S100G, CAPN6, CD40LG, CDR1, CDX4, CETN2, CHM, CLCN4, CLCN5, CLIC2, CNGA2, COL4A5, COL4A6, COX7B, CSF2RA, CSTF2, CTAG1B, TEX28, CYBB, CYLC1, DCX, DDX3X, TIMM8A, DIAPH2, DKC1, DLG3, DMD, DNASE1L1, DRP2, TSC22D3, DUSP9, EDA, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, EMD, F8, F9, ACSL4, FANCB, GPC4, FGD1, FGF13, FHL1, FIGF, FLNA, FMR1, AFF2, CENPI, G6PD, GAGE1, GABRA3, GABRE, GAGE2C, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GPC3, GLRA2, GLUD2, GPM6B, CXCR3, LPAR4, GPR34, GRIA3, GRPR, GUCY2F, HSD17B10, HCCS, HCFC1, HMGB3, HNRNPH2, HPRT1, ERAS, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IL2RG, IL3RA, IL13RA1, IL13RA2, IRAK1, ANOS1, KCND1, L1CAM, LAMP2, PRICKLE3, SH2D1A, MAGEA1, MAGEA2, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA10, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MCF2, MECP2, CD99, MID1, FOXO4, MPP1, CITED1, MSN, MTCP1, MTM1, MYCLP1, NAP1L2, NAP1L3, NDP, NDUFA1, NHS, NONO, GPR143, TBC1D25, OCRL, OPHN1, OTC, P2RY4, PAK3, CDK16, PDHA1, PDK3, CFP, PFKFB1, PGK1, PHEX, PHKA1, PHKA2, PIGA, PIN4, PLP1, PLP2, PLS3, PLXNB3, POLA1, POU3F4, PPEF1, PRKX, PRPS1, PRPS2, PRRG1, PSMD10, RBBP7, RBM3, OPN1LW, RENBP, RP2, RPGR, RPL10, RPL39, RPL36A, RPS4X, RPS6KA3, RS1, SAT1, SCML1, TRAPPC2, SH3BGRL, SHOX, SLC6A8, SLC16A2, SMARCA1, SMS, SOX3, SSR4, SSX1, SSX2, SSX5, SSX4, CDKL5, SUV39H1, VAMP7, SYN1, SYP, TAF1, TAZ, SERPINA7, TBL1X, DYNLT3, TFE3, TIMP1, TSPAN7, TSPAN6, TMSB4X, TRO, TRPC5, UBA1, UBE2A, SLC35A2, KDM6A, VBP1, WAS, XG, XIST, XK, XPNPEP2, ZFX, ZIC3, ZNF711, ZNF182, ZNF41, ZNF75D, ZNF157, RNF113A, ZNF185, ZXDA, GTPBP6, PUDP, AKAP17A, PNPLA4, ZRSR2, USP11, USP9X, RBM10, KDM5C, SMC1A, NAA10, F8A1, UBL4A, TMEM187, LAGE3, SLC10A3, TKTL1, SRPX, UXT, CUL4B, IRS4, OGT, OFD1, IKBKG, PIR, INE2, INE1, CASK, ASMTL, PAGE1, MTMR1, FGF16, AKAP4, APLN, AP1S2, GYG2, FAM127A, SLC25A14, CLDN2, RGN, FAM50A, AIFM1, TMEM257, REPS2, ZBED1, ZMYM3, BMP15, GPR50, MED14, TCEAL1, RAB33A, RAB9A, TSIX, ITM2A, ARHGEF6, PCYT1B, MAGED1, XAGE2, PAGE4, MORF4L2, GPRASP1, STARD8, FRMPD4, JADE3, ARMCX2, HEPH, MAGEC1, AMMECR1, MED12, ZBTB33, HDAC6, MAMLD1, HUWE1, PQBP1, BCAP31, ADGRG2, ATP6AP2, TENM1, SSX3, TIMM17B, SPRY3, RRAGB, SCML2, SLC9A6, ENOX2, PRDX4, EBP, STAG2, RAI2, PLAC1, CYSLTR1, UTP14A, DIAPH2-AS1, ZNF275, PGRMC1, MAGED2, MSL3, TMSB15A, PIM2, MID2, IL1RAPL1, WDR45, TREX2, PRAF2, CA5B, SLC6A14, KLF8, VSIG4, CNKSR2, IQSEC2, PHF8, SEPT6, ARHGEF9, ATP1B4, ACOT9, KCNE5, LDOC1, SMPX, GSPT2, KIF4A, FTSJ1, HYPM, MXRA5, EGFL6, FAM127B, IL1RAPL2, ITGB1BP2, SRPK3, VCX, GAGE12I, GAGE2E, SNORA70, SNORA69, SNORD61, BEX3, NOX1, FAM155B, INGX, GPR82, GPKOW, SRPX2, APEX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, PCSK1N, PPP2R3B, CCDC22, MCTS1, MAGEH1, FAM156A, C1GALT1C1, SNX12, RPA4, PNMA3, UBQLN2, SH3KBP1, SPANXA1, CTAG2, NSDHL, FOXP3, TBX22, ZDHHC9, RLIM, TCEAL9, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, TLR7, ARMCX1, TLR8, MBTPS2, MAGEC2, VGLL1, VCX2, VCX3A, ARMCX3, TAF9B, RBMX2, STK26, CPXCR1, CHIC1, FTHL17, GPR173, NLGN3, SASH3, TAF7L, SPIN2A, ARMCX6, WDR44, NDUFB11, GNL3L, ERCC6L, NUP62CL, GDPD2, BCOR, TBC1D8B, FAM120C, GEMIN8, CT55, TMEM255A, CXorf57, NUDT11, TMLHE, RBM41, PLCXD1, SAGE1, PLXNA3, HAUS7, OTUD5, ZNF280C, MTMR8, KRBOX4, TXLNG, MBNL3, WWC3, BEX1, HDAC8, GABRQ, ZC4H2, NXT2, NKRF, NXF5, NXF4, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, CTPS2, CHST7, TCEAL7, GRIPAP1, THOC2, ZNF630, TMEM27, SHROOM4, KIAA1210, NLGN4X, PCDH19, RGAG1, PDZD4, LRCH2, MAGEE1, RAP2C, MID1IP1, ACE2, TMEM35A, FAM3A, EDA2R, NYX, BCORL1, DUSP21, CXorf56, DMRTC1, TSPYL2, TNMD, CRLF2, PJA1, SPANXD, SPANXC, WDR13, PORCN, ARMCX5, UPF3B, WNK3, FUNDC2, PRRG3, APOO, BRCC3, HMGN5, NKAP, RNF128, MAP7D3, MORC4, CXorf36, LONRF3, ALG13, MAGIX, TCEAL4, TRMT2B, POF1B, ASMTL-AS1, CXorf21, EFHC2, KLHL15, ESX1, BHLHB9, MAGED4B, LAS1L, GPR101, TMEM47, CD99L2, H2AFB3, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, TMEM185A, SLITRK2, GPR174, SLC9A7, BEX2, MIR503HG, SLC7A3, PNMA6A, TCEAL3, CCNB3, PPP1R3F, FATE1, CCDC120, TSR2, HS6ST2, FRMD7, KLHL13, TGIF2LX, FAM104B, PAGE5, TCEAL8, CHRDL1, CXorf40A, FAM58A, RIPPLY1, LINC01278, ATXN3L, SLC38A5, MMGT1, ACRC, SYAP1, SYTL4, SYTL5, PNMA5, GPRASP2, ATG4A, RAB39B, DACH2, SLITRK4, SPANXN3, MAGEC3, BEND2, PASD1, DCAF12L1, DGKK, PIH1D3, MUM1L1, FAM199X, AMER1, APOOL, HDX, FUNDC1, ADGRG4, PTCHD1, MAGEB10, DCAF8L1, OTUD6A, UPRT, MAGEE2, MAGEB16, FOXR2, XAGE-4, GAB3, PNCK, ZFP92, ACTRT1, GPR119, PAGE3, RBMXL3, DOCK11, SPIN4, ASB11, ASB9, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, ZNF645, CSAG1, FMR1NB, USP27X-AS1, FAAH2, ZXDB, LINC00889, FAM47A, MOSPD2, ARHGAP36, RIBC1, AKAP14, RHOXF1, MAGEB6, CXorf65, AWAT1, AWAT2, ZDHHC15, USP51, TCEAL6, CH17-340M24.3, H2BFWT, CXorf38, FAM122B, FAM122C, DDX53, FAM46D, SPIN3, FAM47B, CXorf22, SUPT20HL2, TCEANC, ZCCHC12, ARX, XAGE3, XAGE5, NUDT10, FAM9A, FAM9B, FAM9C, CT83, LINC01560, SLC25A43, FAM226A, ZCCHC5, NRK, INTS6L, ZNF449, VMA21, TMEM31, PAGE2, DHRSX, CTAG1A, BRWD3, CXorf58, CT47A11, CXorf23, MAP7D2, KLHL34, TAB3, MAGEA2B, SSX6, SSX7, SSX8, SSX9, RAB40AL, LINC00685, ATP11C, LINC00632, NLRP2B, H2BFM, LOC286437, LINC01281, YIPF6, CFAP47, FIRRE, BRAFP1, FAM133A, MAGEB18, TMSB15B, P2RY8, FAM223B, RGAG4, NHSL2, PABPC1L2A, KIAA2022, BEX5, TCEAL5, MORF4L2-AS1, VSIG1, ZC3H12B, SATL1, DCAF12L2, LOC340581, ZCCHC16, LHFPL1, CXorf67, ZNF81, ITIH6, LANCL3, MPC1L, DCAF8L2, SOWAHD, OR13H1, CCDC160, CXorf66, DGAT2L6, RAB41, ARSH, MAGEB5, TLR8-AS1, MAP3K15, SPACA5, USP27X, PAGE2B, ZCCHC13, LOC389895, UBE2NL, CSAG3, GLOD5, FLJ44635, ARL13A, SMIM10L2A, LOC401585, ZNF674-AS1, SLC25A53, LINC00890, XKRX, YY2, MIRLET7F2, MIR105-1, MIR105-2, MIR106A, MIR188, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR92A2, MIR98, VCX3B, FTH1P18, LINC00891, GLRA4, FAM127C, CT45A3, CT45A5, SPANXN4, PGAM4, FAM47C, MIR325, MIR374A, SPIN2B, H2AFB2, H2AFB1, F8A2, F8A3, SPANXN1, SPANXN2, SPANXN5, MIR361, MIR384, MIR424, CT45A6, CT45A1, CXorf40B, SSX4B, LINC01420, JPX, MIR448, MIR450A1, MIR362, MIR363, MIR20B, MIR18B, MIR452, MIR500A, MIR501, MIR502, MIR450A2, MIR503, MIR504, MIR505, MIR513A1, MIR513A2, MIR506, MIR507, MIR508, MIR509-1, MIR510, MIR514A1, MIR514A2, MIR514A3, SPANXA2-OT1, ZNF674, DANT2, CT47B1, ZCCHC18, SMIM10, SMIM10L2B, SAGE2P, GAGE2B, GAGE13, GAGE12G, CXorf30, LOC645188, MAGEB17, PABPC1L2B, XAGE1E, XAGE1B, CT47A7, FAM226B, MIR545, MIR542, SCARNA23, SNORA11, SNORA35, SNORA36A, SNORA56, SNORD96B, MIR421, MIR532, MIR651, MIR652, MIR660, LINC01545, SSX2B, FAM156B, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGED4, MAGEA9B, NXF2B, OPN1MW2, DMRTC1B, SPANXB1, SPANXA2, CT45A2, SPACA5B, GAGE12J, GAGE2D, GAGE12C, GAGE12B, GAGE12E, GAGE12H, GAGE2A, LOC729609, LINC00106, MIR767, MIR766, GAGE12F, GS1-600G8.3, GAGE8, SNORA11C, SNORA11D, FMR1-AS1, MIR509-2, MIR450B, MIR890, MIR891B, MIR888, MIR892B, MIR374B, MIR934, MIR509-3, MIR891A, MIR892A, LOC100126447, LINC00892, ARMCX3-AS1, GPR50-AS1, CXorf51A, LINC00684, LINC01546, LINC00633, TEX13C, FGF13-AS1, HSFX2, SUPT20HL1, CXorf49, PRR32, LINC00893, ARMCX4, PHKA2-AS1, LOC100132304, GAGE12D, LOC100132741, SMIM9, FAM223A, CXorf49B, CXorf51B, LINC01203, UXT-AS1, SCARNA9L, TRI-GAT1-2, TRI-GAT1-1, TRV-TAC1-2, TRI-GAT1-3, CMC4, LINC00894, LOC100287728, LINC00630, CLDN34, MIR1184-1, MIR513C, MIR1468, MIR1912, MIR1298, MIR320D2, MIR1321, MIR548I4, MIR1277, MIR1911, MIR548F5, MIR1264, FTX, SLC25A5-AS1, MIR548M, MIR718, MIR513B, MIR764, MIR2114, TRPC5OS, LINC00102, MIR514B, MIR3202-2, MIR500B, MIR4330, MIR4328, MIR1184-3, MIR1184-2, MIR3202-1, MIR4329, MTRNR2L10, MIR374C, MIR23C, MIR3937, MIR3672, MIR676, MIR3690, MIR3915, HSFX1, LINC00629, LOC100506790, CT47A12, TMLHE-AS1, LOC100509091, ARMCX5-GPRASP2, RPL36A-HNRNPH2, PIR-FIGF, MAGEA10-MAGEA5, MIR548AN, MIR4769, MIR4536-1, MIR4768, MIR1587, MIR548AJ2, MIR4770, MIR548AM, MIR4767, MIR3978, MIR4666B, MIR664B, MIR4536-2, MIR548AX, PTCHD1-AS, RNU6-30P, NHS-AS1, SYP-AS1, ZFX-AS1, DLG3-AS1, PHEX-AS1, PRKX-AS1, MED14OS, HCFC1-AS1, PPEF1-AS1, EIF1AX-AS1, PCYT1B-AS1, HS6ST2-AS1, INTS6L-AS1, ZNF630-AS1, FRMPD3-AS1, MID1IP1-AS1, ARHGEF9-IT1, LINC00269, LCA10, TCP11X2, LOC101059915, CT45A7, OPN1MW3, LINC00850, SNORA11E, MAGEA8-AS1, LINC01284, PLS3-AS1, LINC01282, LOC101927476, LOC101927501, LINC01204, LINC01186, LOC101927635, LOC101927685, LOC101927830, LOC101928128, LOC101928201, LOC101928259, LINC01285, LOC101928335, LOC101928336, PABPC1L2B-AS1, LOC101928358, LOC101928389, LOC101928402, LOC101928437, MIR325HG, LOC101928495, LOC101928564, RAP2C-AS1, LOC101928627, LOC101928917, RHOXF1P1, RHOXF1-AS1, MIR6087, MIR6089, MIR6134, MIR6857, MIR6858, MIR6895, MIR6086, MIR892C, MIR6894, MIR8088, LINC01496, KANTR, CSAG2, CT45A10, CT45A9, CT45A8, PABPC5-AS1, GAGE10, LINC01201, LINC01402, GS1-594A7.3, LINC01456, LOC105373156, LOC105373185, LOC105373300, LOC105373311, LOC105373338, LOC105373368, LOC105373378, LOC105373383, LOC105377213, XACT, SNORA109
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
21.
GRCh37:
ChrX:60679-155242832
GRCh38:
ChrX:10679-156013167
ABCB7, AGTR2, NR0B1, ALAS2, ABCD1, AMELX, SLC25A5, SLC25A6, XIAP, SHROOM2, AR, ARAF, ARHGAP4, ARHGAP6, ARR3, STS, ARSD, ARSE, ARSF, ASMT, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BGN, BMX, BRS3, BTK, CACNA1F, S100G, CAPN6, CD40LG, CDR1, CDX4, CETN2, CHM, CLCN4, CLCN5, CLIC2, CNGA2, COL4A5, COL4A6, COX7B, CSF2RA, CSTF2, CTAG1B, TEX28, CYBB, CYLC1, DCX, DDX3X, TIMM8A, DIAPH2, DKC1, DLG3, DMD, DNASE1L1, DRP2, TSC22D3, DUSP9, EDA, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, EMD, F8, F9, ACSL4, FANCB, GPC4, FGD1, FGF13, FHL1, FIGF, FLNA, FMR1, AFF2, CENPI, G6PD, GAGE1, GABRA3, GABRE, GAGE2C, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GPC3, GLRA2, GLUD2, GPM6B, CXCR3, LPAR4, GPR34, GRIA3, GRPR, GUCY2F, HSD17B10, HCCS, HCFC1, HMGB3, HNRNPH2, HPRT1, ERAS, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IL2RG, IL3RA, IL9R, IL13RA1, IL13RA2, IRAK1, ANOS1, KCND1, L1CAM, LAMP2, PRICKLE3, SH2D1A, MAGEA1, MAGEA2, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA10, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MCF2, MECP2, CD99, MID1, FOXO4, MPP1, CITED1, MSN, MTCP1, MTM1, MYCLP1, NAP1L2, NAP1L3, NDP, NDUFA1, NHS, NONO, GPR143, TBC1D25, OCRL, OPHN1, OTC, P2RY4, PAK3, CDK16, PDHA1, PDK3, CFP, PFKFB1, PGK1, PHEX, PHKA1, PHKA2, PIGA, PIN4, PLP1, PLP2, PLS3, PLXNB3, POLA1, POU3F4, PPEF1, PRKX, PRPS1, PRPS2, PRRG1, PSMD10, RBBP7, RBM3, OPN1LW, RENBP, RP2, RPGR, RPL10, RPL39, RPL36A, RPS4X, RPS6KA3, RS1, SAT1, SCML1, TRAPPC2, SH3BGRL, SHOX, SLC6A8, SLC16A2, SMARCA1, SMS, SOX3, SSR4, SSX1, SSX2, SSX5, SSX4, CDKL5, SUV39H1, VAMP7, SYN1, SYP, TAF1, TAZ, SERPINA7, TBL1X, DYNLT3, TFE3, TIMP1, TSPAN7, TSPAN6, TMSB4X, TRO, TRPC5, UBA1, UBE2A, SLC35A2, KDM6A, VBP1, WAS, XG, XIST, XK, XPNPEP2, ZFX, ZIC3, ZNF711, ZNF182, ZNF41, ZNF75D, ZNF157, RNF113A, ZNF185, ZXDA, GTPBP6, PUDP, AKAP17A, PNPLA4, ZRSR2, USP11, USP9X, RBM10, KDM5C, SMC1A, NAA10, F8A1, UBL4A, TMEM187, LAGE3, SLC10A3, TKTL1, SRPX, UXT, CUL4B, IRS4, OGT, OFD1, IKBKG, PIR, INE2, INE1, CASK, ASMTL, PAGE1, MTMR1, FGF16, AKAP4, APLN, AP1S2, GYG2, FAM127A, SLC25A14, CLDN2, RGN, FAM50A, AIFM1, TMEM257, REPS2, ZBED1, ZMYM3, BMP15, GPR50, MED14, TCEAL1, RAB33A, RAB9A, TSIX, ITM2A, ARHGEF6, PCYT1B, MAGED1, XAGE2, PAGE4, MORF4L2, GPRASP1, STARD8, FRMPD4, JADE3, ARMCX2, HEPH, MAGEC1, AMMECR1, MED12, ZBTB33, HDAC6, MAMLD1, HUWE1, PQBP1, BCAP31, ADGRG2, ATP6AP2, TENM1, SSX3, TIMM17B, SPRY3, RRAGB, SCML2, SLC9A6, ENOX2, PRDX4, EBP, STAG2, RAI2, PLAC1, CYSLTR1, UTP14A, DIAPH2-AS1, ZNF275, PGRMC1, MAGED2, MSL3, TMSB15A, PIM2, MID2, IL1RAPL1, WDR45, TREX2, PRAF2, CA5B, SLC6A14, KLF8, VSIG4, CNKSR2, IQSEC2, PHF8, SEPT6, ARHGEF9, ATP1B4, ACOT9, KCNE5, LDOC1, SMPX, GSPT2, KIF4A, FTSJ1, HYPM, MXRA5, EGFL6, FAM127B, IL1RAPL2, ITGB1BP2, SRPK3, VCX, GAGE12I, GAGE2E, SNORA70, SNORA69, SNORD61, BEX3, NOX1, FAM155B, INGX, GPR82, GPKOW, SRPX2, APEX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, PCSK1N, PPP2R3B, CCDC22, MCTS1, MAGEH1, FAM156A, C1GALT1C1, SNX12, RPA4, PNMA3, UBQLN2, SH3KBP1, SPANXA1, CTAG2, NSDHL, FOXP3, TBX22, ZDHHC9, RLIM, TCEAL9, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, TLR7, ARMCX1, TLR8, MBTPS2, MAGEC2, VGLL1, VCX2, VCX3A, ARMCX3, TAF9B, RBMX2, STK26, CPXCR1, CHIC1, FTHL17, GPR173, NLGN3, SASH3, TAF7L, SPIN2A, ARMCX6, WDR44, NDUFB11, GNL3L, ERCC6L, NUP62CL, GDPD2, BCOR, TBC1D8B, FAM120C, GEMIN8, CT55, TMEM255A, CXorf57, NUDT11, TMLHE, RBM41, PLCXD1, SAGE1, PLXNA3, HAUS7, OTUD5, ZNF280C, MTMR8, KRBOX4, TXLNG, MBNL3, WWC3, BEX1, HDAC8, GABRQ, ZC4H2, NXT2, NKRF, NXF5, NXF4, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, CTPS2, CHST7, TCEAL7, GRIPAP1, THOC2, ZNF630, TMEM27, SHROOM4, KIAA1210, NLGN4X, PCDH19, RGAG1, PDZD4, LRCH2, MAGEE1, RAP2C, MID1IP1, ACE2, TMEM35A, FAM3A, EDA2R, NYX, BCORL1, DUSP21, CXorf56, DMRTC1, TSPYL2, TNMD, CRLF2, PJA1, SPANXD, SPANXC, WDR13, PORCN, ARMCX5, UPF3B, WNK3, FUNDC2, PRRG3, APOO, BRCC3, HMGN5, NKAP, RNF128, MAP7D3, MORC4, CXorf36, LONRF3, ALG13, MAGIX, TCEAL4, TRMT2B, POF1B, ASMTL-AS1, CXorf21, EFHC2, KLHL15, ESX1, BHLHB9, MAGED4B, LAS1L, GPR101, TMEM47, CD99L2, H2AFB3, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, TMEM185A, SLITRK2, GPR174, SLC9A7, BEX2, MIR503HG, SLC7A3, PNMA6A, TCEAL3, CCNB3, PPP1R3F, FATE1, CCDC120, TSR2, HS6ST2, FRMD7, KLHL13, TGIF2LX, FAM104B, PAGE5, TCEAL8, CHRDL1, CXorf40A, FAM58A, RIPPLY1, LINC01278, ATXN3L, SLC38A5, MMGT1, ACRC, SYAP1, SYTL4, SYTL5, PNMA5, GPRASP2, ATG4A, RAB39B, DACH2, SLITRK4, SPANXN3, MAGEC3, BEND2, PASD1, DCAF12L1, DGKK, PIH1D3, MUM1L1, FAM199X, AMER1, APOOL, HDX, FUNDC1, ADGRG4, PTCHD1, MAGEB10, DCAF8L1, OTUD6A, UPRT, MAGEE2, MAGEB16, FOXR2, XAGE-4, GAB3, PNCK, ZFP92, ACTRT1, GPR119, PAGE3, RBMXL3, DOCK11, SPIN4, ASB11, ASB9, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, ZNF645, CSAG1, FMR1NB, USP27X-AS1, FAAH2, ZXDB, LINC00889, FAM47A, MOSPD2, ARHGAP36, RIBC1, AKAP14, RHOXF1, MAGEB6, CXorf65, AWAT1, AWAT2, ZDHHC15, USP51, TCEAL6, CH17-340M24.3, H2BFWT, CXorf38, FAM122B, FAM122C, DDX53, FAM46D, SPIN3, FAM47B, CXorf22, SUPT20HL2, TCEANC, ZCCHC12, ARX, XAGE3, XAGE5, NUDT10, FAM9A, FAM9B, FAM9C, CT83, LINC01560, SLC25A43, FAM226A, ZCCHC5, NRK, INTS6L, ZNF449, VMA21, TMEM31, PAGE2, DHRSX, CTAG1A, BRWD3, CXorf58, CT47A11, CXorf23, MAP7D2, KLHL34, TAB3, MAGEA2B, SSX6, SSX7, SSX8, SSX9, RAB40AL, LINC00685, ATP11C, LINC00632, NLRP2B, H2BFM, LOC286437, LINC01281, YIPF6, CFAP47, FIRRE, BRAFP1, FAM133A, MAGEB18, TMSB15B, P2RY8, FAM223B, RGAG4, NHSL2, PABPC1L2A, KIAA2022, BEX5, TCEAL5, MORF4L2-AS1, VSIG1, ZC3H12B, SATL1, DCAF12L2, LOC340581, ZCCHC16, LHFPL1, CXorf67, ZNF81, ITIH6, LANCL3, MPC1L, DCAF8L2, SOWAHD, OR13H1, CCDC160, CXorf66, DGAT2L6, RAB41, ARSH, MAGEB5, TLR8-AS1, MAP3K15, SPACA5, USP27X, PAGE2B, ZCCHC13, LOC389895, UBE2NL, CSAG3, GLOD5, FLJ44635, ARL13A, SMIM10L2A, LOC401585, ZNF674-AS1, SLC25A53, LINC00890, XKRX, YY2, MIRLET7F2, MIR105-1, MIR105-2, MIR106A, MIR188, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR92A2, MIR98, VCX3B, FTH1P18, LINC00891, GLRA4, FAM127C, CT45A3, CT45A5, SPANXN4, PGAM4, FAM47C, MIR325, MIR374A, SPIN2B, H2AFB2, H2AFB1, F8A2, F8A3, SPANXN1, SPANXN2, SPANXN5, MIR361, MIR384, MIR424, CT45A6, CT45A1, CXorf40B, SSX4B, LINC01420, JPX, MIR448, MIR450A1, MIR362, MIR363, MIR20B, MIR18B, MIR452, MIR500A, MIR501, MIR502, MIR450A2, MIR503, MIR504, MIR505, MIR513A1, MIR513A2, MIR506, MIR507, MIR508, MIR509-1, MIR510, MIR514A1, MIR514A2, MIR514A3, SPANXA2-OT1, ZNF674, DANT2, CT47B1, ZCCHC18, SMIM10, SMIM10L2B, SAGE2P, GAGE2B, GAGE13, GAGE12G, CXorf30, LOC645188, MAGEB17, PABPC1L2B, XAGE1E, XAGE1B, CT47A7, FAM226B, MIR545, MIR542, SCARNA23, SNORA11, SNORA35, SNORA36A, SNORA56, SNORD96B, MIR421, MIR532, MIR651, MIR652, MIR660, LINC01545, SSX2B, FAM156B, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGED4, MAGEA9B, NXF2B, OPN1MW2, DMRTC1B, SPANXB1, SPANXA2, CT45A2, SPACA5B, GAGE12J, GAGE2D, GAGE12C, GAGE12B, GAGE12E, GAGE12H, GAGE2A, LOC729609, LINC00106, MIR767, MIR766, GAGE12F, GS1-600G8.3, GAGE8, SNORA11C, SNORA11D, FMR1-AS1, MIR509-2, MIR450B, MIR890, MIR891B, MIR888, MIR892B, MIR374B, MIR934, MIR509-3, MIR891A, MIR892A, LOC100126447, LINC00892, ARMCX3-AS1, GPR50-AS1, CXorf51A, LINC00684, LINC01546, LINC00633, TEX13C, FGF13-AS1, HSFX2, SUPT20HL1, CXorf49, PRR32, LINC00893, ARMCX4, PHKA2-AS1, LOC100132304, GAGE12D, LOC100132741, SMIM9, FAM223A, CXorf49B, CXorf51B, LINC01203, UXT-AS1, SCARNA9L, TRI-GAT1-2, TRI-GAT1-1, TRV-TAC1-2, TRI-GAT1-3, CMC4, LINC00894, LOC100287728, LINC00630, CLDN34, MIR1184-1, MIR513C, MIR1468, MIR1912, MIR1298, MIR320D2, MIR1321, MIR548I4, MIR1277, MIR1911, MIR548F5, MIR1264, FTX, SLC25A5-AS1, MIR548M, MIR718, MIR513B, MIR764, MIR2114, TRPC5OS, LINC00102, MIR514B, MIR3202-2, MIR500B, MIR4330, MIR4328, MIR1184-3, MIR1184-2, MIR3202-1, MIR4329, MTRNR2L10, MIR374C, MIR23C, MIR3937, MIR3672, MIR676, MIR3690, MIR3915, HSFX1, LINC00629, LOC100506790, CT47A12, TMLHE-AS1, LOC100509091, ARMCX5-GPRASP2, RPL36A-HNRNPH2, PIR-FIGF, MAGEA10-MAGEA5, MIR548AN, MIR4769, MIR4536-1, MIR4768, MIR1587, MIR548AJ2, MIR4770, MIR548AM, MIR4767, MIR3978, MIR4666B, MIR664B, MIR4536-2, MIR548AX, PTCHD1-AS, RNU6-30P, NHS-AS1, SYP-AS1, ZFX-AS1, DLG3-AS1, PHEX-AS1, PRKX-AS1, MED14OS, HCFC1-AS1, PPEF1-AS1, EIF1AX-AS1, PCYT1B-AS1, HS6ST2-AS1, INTS6L-AS1, ZNF630-AS1, FRMPD3-AS1, MID1IP1-AS1, ARHGEF9-IT1, LINC00269, LCA10, TCP11X2, LOC101059915, CT45A7, OPN1MW3, LINC00850, SNORA11E, MAGEA8-AS1, LINC01284, PLS3-AS1, LINC01282, LOC101927476, LOC101927501, LINC01204, LINC01186, LOC101927635, LOC101927685, LOC101927830, LOC101928128, LOC101928201, LOC101928259, LINC01285, LOC101928335, LOC101928336, PABPC1L2B-AS1, LOC101928358, LOC101928389, LOC101928402, LOC101928437, MIR325HG, LOC101928495, LOC101928564, RAP2C-AS1, LOC101928627, LOC101928917, RHOXF1P1, RHOXF1-AS1, MIR6087, MIR6089, MIR6134, MIR6857, MIR6858, MIR6895, MIR6086, MIR892C, MIR6894, MIR8088, LINC01496, KANTR, CSAG2, CT45A10, CT45A9, CT45A8, PABPC5-AS1, GAGE10, LINC01201, LINC01402, GS1-594A7.3, LINC01456, LOC105373156, LOC105373185, LOC105373300, LOC105373311, LOC105373338, LOC105373368, LOC105373378, LOC105373383, LOC105377213, XACT, SNORA109
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
22.
GRCh37:
ChrX:60679-155251871
GRCh38:
ChrX:10679-156022206
ABCB7, AGTR2, NR0B1, ALAS2, ABCD1, AMELX, SLC25A5, SLC25A6, XIAP, SHROOM2, AR, ARAF, ARHGAP4, ARHGAP6, ARR3, STS, ARSD, ARSE, ARSF, ASMT, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BGN, BMX, BRS3, BTK, CACNA1F, S100G, CAPN6, CD40LG, CDR1, CDX4, CETN2, CHM, CLCN4, CLCN5, CLIC2, CNGA2, COL4A5, COL4A6, COX7B, CSF2RA, CSTF2, CTAG1B, TEX28, CYBB, CYLC1, DCX, DDX3X, TIMM8A, DIAPH2, DKC1, DLG3, DMD, DNASE1L1, DRP2, TSC22D3, DUSP9, EDA, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, EMD, F8, F9, ACSL4, FANCB, GPC4, FGD1, FGF13, FHL1, FIGF, FLNA, FMR1, AFF2, CENPI, G6PD, GAGE1, GABRA3, GABRE, GAGE2C, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GPC3, GLRA2, GLUD2, GPM6B, CXCR3, LPAR4, GPR34, GRIA3, GRPR, GUCY2F, HSD17B10, HCCS, HCFC1, HMGB3, HNRNPH2, HPRT1, ERAS, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IL2RG, IL3RA, IL9R, IL13RA1, IL13RA2, IRAK1, ANOS1, KCND1, L1CAM, LAMP2, PRICKLE3, SH2D1A, MAGEA1, MAGEA2, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA10, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MCF2, MECP2, CD99, MID1, FOXO4, MPP1, CITED1, MSN, MTCP1, MTM1, MYCLP1, NAP1L2, NAP1L3, NDP, NDUFA1, NHS, NONO, GPR143, TBC1D25, OCRL, OPHN1, OTC, P2RY4, PAK3, CDK16, PDHA1, PDK3, CFP, PFKFB1, PGK1, PHEX, PHKA1, PHKA2, PIGA, PIN4, PLP1, PLP2, PLS3, PLXNB3, POLA1, POU3F4, PPEF1, PRKX, PRPS1, PRPS2, PRRG1, PSMD10, RBBP7, RBM3, OPN1LW, RENBP, RP2, RPGR, RPL10, RPL39, RPL36A, RPS4X, RPS6KA3, RS1, SAT1, SCML1, TRAPPC2, SH3BGRL, SHOX, SLC6A8, SLC16A2, SMARCA1, SMS, SOX3, SSR4, SSX1, SSX2, SSX5, SSX4, CDKL5, SUV39H1, VAMP7, SYN1, SYP, TAF1, TAZ, SERPINA7, TBL1X, DYNLT3, TFE3, TIMP1, TSPAN7, TSPAN6, TMSB4X, TRO, TRPC5, UBA1, UBE2A, SLC35A2, KDM6A, VBP1, WAS, XG, XIST, XK, XPNPEP2, ZFX, ZIC3, ZNF711, ZNF182, ZNF41, ZNF75D, ZNF157, RNF113A, ZNF185, ZXDA, GTPBP6, PUDP, AKAP17A, PNPLA4, ZRSR2, USP11, USP9X, RBM10, KDM5C, SMC1A, NAA10, F8A1, UBL4A, TMEM187, LAGE3, SLC10A3, TKTL1, SRPX, UXT, CUL4B, IRS4, OGT, OFD1, IKBKG, PIR, INE2, INE1, CASK, ASMTL, PAGE1, MTMR1, FGF16, AKAP4, APLN, AP1S2, GYG2, FAM127A, SLC25A14, CLDN2, RGN, FAM50A, AIFM1, TMEM257, REPS2, ZBED1, ZMYM3, BMP15, GPR50, MED14, TCEAL1, RAB33A, RAB9A, TSIX, ITM2A, ARHGEF6, PCYT1B, MAGED1, XAGE2, PAGE4, MORF4L2, GPRASP1, STARD8, FRMPD4, JADE3, ARMCX2, HEPH, MAGEC1, AMMECR1, MED12, ZBTB33, HDAC6, MAMLD1, HUWE1, PQBP1, BCAP31, ADGRG2, ATP6AP2, TENM1, SSX3, TIMM17B, SPRY3, RRAGB, SCML2, SLC9A6, ENOX2, PRDX4, EBP, STAG2, RAI2, PLAC1, CYSLTR1, UTP14A, DIAPH2-AS1, ZNF275, PGRMC1, MAGED2, MSL3, TMSB15A, PIM2, MID2, IL1RAPL1, WDR45, TREX2, PRAF2, CA5B, SLC6A14, KLF8, VSIG4, CNKSR2, IQSEC2, PHF8, SEPT6, ARHGEF9, ATP1B4, ACOT9, KCNE5, LDOC1, SMPX, GSPT2, KIF4A, FTSJ1, HYPM, MXRA5, EGFL6, FAM127B, IL1RAPL2, ITGB1BP2, SRPK3, VCX, GAGE12I, GAGE2E, SNORA70, SNORA69, SNORD61, BEX3, NOX1, FAM155B, INGX, GPR82, GPKOW, SRPX2, APEX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, PCSK1N, PPP2R3B, CCDC22, MCTS1, MAGEH1, FAM156A, C1GALT1C1, SNX12, RPA4, PNMA3, UBQLN2, SH3KBP1, SPANXA1, CTAG2, NSDHL, FOXP3, TBX22, ZDHHC9, RLIM, TCEAL9, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, TLR7, ARMCX1, TLR8, MBTPS2, MAGEC2, VGLL1, VCX2, VCX3A, ARMCX3, TAF9B, RBMX2, STK26, CPXCR1, CHIC1, FTHL17, GPR173, NLGN3, SASH3, TAF7L, SPIN2A, ARMCX6, WDR44, NDUFB11, GNL3L, ERCC6L, NUP62CL, GDPD2, BCOR, TBC1D8B, FAM120C, GEMIN8, CT55, TMEM255A, CXorf57, NUDT11, TMLHE, RBM41, PLCXD1, SAGE1, PLXNA3, HAUS7, OTUD5, ZNF280C, MTMR8, KRBOX4, TXLNG, MBNL3, WWC3, BEX1, HDAC8, GABRQ, ZC4H2, NXT2, NKRF, NXF5, NXF4, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, CTPS2, CHST7, TCEAL7, GRIPAP1, THOC2, ZNF630, TMEM27, SHROOM4, KIAA1210, NLGN4X, PCDH19, RGAG1, PDZD4, LRCH2, MAGEE1, RAP2C, MID1IP1, ACE2, TMEM35A, FAM3A, EDA2R, NYX, BCORL1, DUSP21, CXorf56, DMRTC1, TSPYL2, TNMD, CRLF2, PJA1, SPANXD, SPANXC, WDR13, PORCN, ARMCX5, UPF3B, WNK3, FUNDC2, PRRG3, APOO, BRCC3, HMGN5, NKAP, RNF128, MAP7D3, MORC4, CXorf36, LONRF3, ALG13, MAGIX, TCEAL4, TRMT2B, POF1B, ASMTL-AS1, CXorf21, EFHC2, KLHL15, ESX1, BHLHB9, MAGED4B, LAS1L, GPR101, TMEM47, CD99L2, H2AFB3, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, TMEM185A, SLITRK2, GPR174, SLC9A7, BEX2, MIR503HG, SLC7A3, PNMA6A, TCEAL3, CCNB3, PPP1R3F, FATE1, CCDC120, TSR2, HS6ST2, FRMD7, KLHL13, TGIF2LX, FAM104B, PAGE5, TCEAL8, CHRDL1, CXorf40A, FAM58A, RIPPLY1, LINC01278, ATXN3L, SLC38A5, MMGT1, ACRC, SYAP1, SYTL4, SYTL5, PNMA5, GPRASP2, ATG4A, RAB39B, DACH2, SLITRK4, SPANXN3, MAGEC3, BEND2, PASD1, DCAF12L1, DGKK, PIH1D3, MUM1L1, FAM199X, AMER1, APOOL, HDX, FUNDC1, ADGRG4, PTCHD1, MAGEB10, DCAF8L1, OTUD6A, UPRT, MAGEE2, MAGEB16, FOXR2, XAGE-4, GAB3, PNCK, ZFP92, ACTRT1, GPR119, PAGE3, RBMXL3, DOCK11, SPIN4, ASB11, ASB9, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, ZNF645, CSAG1, FMR1NB, USP27X-AS1, FAAH2, ZXDB, LINC00889, FAM47A, MOSPD2, ARHGAP36, RIBC1, AKAP14, RHOXF1, MAGEB6, CXorf65, AWAT1, AWAT2, ZDHHC15, USP51, TCEAL6, CH17-340M24.3, H2BFWT, CXorf38, FAM122B, FAM122C, DDX53, FAM46D, SPIN3, FAM47B, CXorf22, SUPT20HL2, TCEANC, ZCCHC12, ARX, XAGE3, XAGE5, NUDT10, FAM9A, FAM9B, FAM9C, CT83, LINC01560, SLC25A43, FAM226A, ZCCHC5, NRK, INTS6L, ZNF449, VMA21, TMEM31, PAGE2, DHRSX, CTAG1A, BRWD3, CXorf58, CT47A11, CXorf23, MAP7D2, KLHL34, TAB3, MAGEA2B, SSX6, SSX7, SSX8, SSX9, RAB40AL, LINC00685, ATP11C, LINC00632, NLRP2B, H2BFM, LOC286437, LINC01281, YIPF6, CFAP47, FIRRE, BRAFP1, FAM133A, MAGEB18, TMSB15B, P2RY8, FAM223B, RGAG4, NHSL2, PABPC1L2A, KIAA2022, BEX5, TCEAL5, MORF4L2-AS1, VSIG1, ZC3H12B, SATL1, DCAF12L2, LOC340581, ZCCHC16, LHFPL1, CXorf67, ZNF81, ITIH6, LANCL3, MPC1L, DCAF8L2, SOWAHD, OR13H1, CCDC160, CXorf66, DGAT2L6, RAB41, ARSH, MAGEB5, TLR8-AS1, MAP3K15, SPACA5, USP27X, PAGE2B, ZCCHC13, LOC389895, UBE2NL, CSAG3, GLOD5, FLJ44635, ARL13A, SMIM10L2A, LOC401585, ZNF674-AS1, SLC25A53, LINC00890, XKRX, YY2, MIRLET7F2, MIR105-1, MIR105-2, MIR106A, MIR188, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR92A2, MIR98, VCX3B, FTH1P18, LINC00891, GLRA4, FAM127C, CT45A3, CT45A5, SPANXN4, PGAM4, FAM47C, MIR325, MIR374A, SPIN2B, H2AFB2, H2AFB1, F8A2, F8A3, SPANXN1, SPANXN2, SPANXN5, MIR361, MIR384, MIR424, CT45A6, CT45A1, CXorf40B, SSX4B, LINC01420, JPX, MIR448, MIR450A1, MIR362, MIR363, MIR20B, MIR18B, MIR452, MIR500A, MIR501, MIR502, MIR450A2, MIR503, MIR504, MIR505, MIR513A1, MIR513A2, MIR506, MIR507, MIR508, MIR509-1, MIR510, MIR514A1, MIR514A2, MIR514A3, SPANXA2-OT1, ZNF674, DANT2, CT47B1, ZCCHC18, SMIM10, SMIM10L2B, SAGE2P, GAGE2B, GAGE13, GAGE12G, CXorf30, LOC645188, MAGEB17, PABPC1L2B, XAGE1E, XAGE1B, CT47A7, FAM226B, MIR545, MIR542, SCARNA23, SNORA11, SNORA35, SNORA36A, SNORA56, SNORD96B, MIR421, MIR532, MIR651, MIR652, MIR660, LINC01545, SSX2B, FAM156B, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGED4, MAGEA9B, NXF2B, OPN1MW2, DMRTC1B, SPANXB1, SPANXA2, CT45A2, SPACA5B, GAGE12J, GAGE2D, GAGE12C, GAGE12B, GAGE12E, GAGE12H, GAGE2A, LOC729609, LINC00106, MIR767, MIR766, GAGE12F, GS1-600G8.3, GAGE8, SNORA11C, SNORA11D, FMR1-AS1, MIR509-2, MIR450B, MIR890, MIR891B, MIR888, MIR892B, MIR374B, MIR934, MIR509-3, MIR891A, MIR892A, LOC100126447, WASIR1, LINC00892, ARMCX3-AS1, GPR50-AS1, CXorf51A, LINC00684, LINC01546, LINC00633, TEX13C, FGF13-AS1, HSFX2, SUPT20HL1, CXorf49, PRR32, LINC00893, ARMCX4, PHKA2-AS1, LOC100132304, GAGE12D, LOC100132741, SMIM9, FAM223A, CXorf49B, CXorf51B, LINC01203, UXT-AS1, SCARNA9L, TRI-GAT1-2, TRI-GAT1-1, TRV-TAC1-2, TRI-GAT1-3, CMC4, LINC00894, LOC100287728, LINC00630, CLDN34, MIR1184-1, MIR513C, MIR1468, MIR1912, MIR1298, MIR320D2, MIR1321, MIR548I4, MIR1277, MIR1911, MIR548F5, MIR1264, FTX, SLC25A5-AS1, MIR548M, MIR718, MIR513B, MIR764, MIR2114, TRPC5OS, LINC00102, MIR514B, MIR3202-2, MIR500B, MIR4330, MIR4328, MIR1184-3, MIR1184-2, MIR3202-1, MIR4329, MTRNR2L10, MIR374C, MIR23C, MIR3937, MIR3672, MIR676, MIR3690, MIR3915, HSFX1, LINC00629, LOC100506790, CT47A12, TMLHE-AS1, LOC100509091, ARMCX5-GPRASP2, RPL36A-HNRNPH2, PIR-FIGF, MAGEA10-MAGEA5, MIR548AN, MIR4769, MIR4536-1, MIR4768, MIR1587, MIR548AJ2, MIR4770, MIR548AM, MIR4767, MIR3978, MIR4666B, MIR664B, MIR4536-2, MIR548AX, PTCHD1-AS, RNU6-30P, NHS-AS1, SYP-AS1, ZFX-AS1, DLG3-AS1, PHEX-AS1, PRKX-AS1, MED14OS, HCFC1-AS1, PPEF1-AS1, EIF1AX-AS1, PCYT1B-AS1, HS6ST2-AS1, INTS6L-AS1, ZNF630-AS1, FRMPD3-AS1, MID1IP1-AS1, ARHGEF9-IT1, LINC00269, LCA10, TCP11X2, LOC101059915, CT45A7, OPN1MW3, LINC00850, SNORA11E, MAGEA8-AS1, LINC01284, PLS3-AS1, LINC01282, LOC101927476, LOC101927501, LINC01204, LINC01186, LOC101927635, LOC101927685, LOC101927830, LOC101928128, LOC101928201, LOC101928259, LINC01285, LOC101928335, LOC101928336, PABPC1L2B-AS1, LOC101928358, LOC101928389, LOC101928402, LOC101928437, MIR325HG, LOC101928495, LOC101928564, RAP2C-AS1, LOC101928627, LOC101928917, RHOXF1P1, RHOXF1-AS1, MIR6087, MIR6089, MIR6134, MIR6857, MIR6858, MIR6895, MIR6086, MIR892C, MIR6894, MIR8088, LINC01496, KANTR, CSAG2, CT45A10, CT45A9, CT45A8, PABPC5-AS1, GAGE10, LINC01201, LINC01402, GS1-594A7.3, LINC01456, LOC105373156, LOC105373185, LOC105373300, LOC105373311, LOC105373338, LOC105373368, LOC105373378, LOC105373383, LOC105377213, XACT, SNORA109
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
ChrX:60679-155251871
GRCh38:
ChrX:10679-156022206