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Items: 1 to 100 of 130

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
EBPMEND SYNDROMEPathogenic
(Apr 1, 2014)
no assertion criteria provided
2.
EBPCHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICALPathogenic
(Jun 1, 2012)
no assertion criteria provided
3.
EBPMEND SYNDROMEPathogenic
(Nov 1, 2010)
no assertion criteria provided
4.
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Aug 12, 2000)
no assertion criteria provided
5.
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Aug 12, 2000)
no assertion criteria provided
6.
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Jul 1, 1999)
no assertion criteria provided
7.
GRCh37:
ChrX:48382172
GRCh38:
ChrX:48523784
EBPnot specifiedBenign
(Jul 22, 2015)
criteria provided, single submitter
8.
GRCh37:
ChrX:48382174
GRCh38:
ChrX:48523786
EBPnot specifiedGMAF:0.31520(T)Benign
(Feb 8, 2013)
criteria provided, single submitter
9.
GRCh37:
ChrX:48382212
GRCh38:
ChrX:48523824
EBPMEND SYNDROMEPathogenic
(Sep 15, 2004)
no assertion criteria provided
10.
GRCh37:
ChrX:48382246
GRCh38:
ChrX:48523858
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Jul 1, 1999)
no assertion criteria provided
11.
GRCh37:
ChrX:48382300
GRCh38:
ChrX:48523912
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Feb 8, 2013)
criteria provided, single submitter
12.
GRCh37:
ChrX:48382341
GRCh38:
ChrX:48523953
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Feb 8, 2013)
criteria provided, single submitter
13.
GRCh37:
ChrX:48382346
GRCh38:
ChrX:48523958
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Jul 1, 1999)
no assertion criteria provided
14.
GRCh37:
ChrX:48382360-48382362
GRCh38:
ChrX:48523972-48523974
EBPChondrodysplasia punctata 2 X-linked dominantLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
15.
GRCh37:
ChrX:48382363
GRCh38:
ChrX:48523975
EBPChondrodysplasia punctata 2 X-linked dominantLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
16.
GRCh37:
ChrX:48382373
GRCh38:
ChrX:48523985
EBPChondrodysplasia punctata 2 X-linked dominantLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
17.
GRCh37:
ChrX:48382377
GRCh38:
ChrX:48523989
EBPChondrodysplasia punctata 2 X-linked dominantLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
18.
GRCh37:
ChrX:48382383
GRCh38:
ChrX:48523995
EBPMEND SYNDROMEPathogenic
(Jul 1, 2014)
no assertion criteria provided
19.
GRCh37:
ChrX:48382384
GRCh38:
ChrX:48523996
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Jun 18, 2015)
criteria provided, single submitter
20.
GRCh37:
ChrX:48382397
GRCh38:
ChrX:48524009
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Feb 8, 2013)
criteria provided, single submitter
21.
GRCh37:
ChrX:48382451-48382455
GRCh38:
ChrX:48524063-48524067
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Feb 8, 2013)
criteria provided, single submitter
22.
GRCh37:
ChrX:48382458
GRCh38:
ChrX:48524070
EBPChondrodysplasia punctata 2 X-linked dominantLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
23.
GRCh37:
ChrX:48382462
GRCh38:
ChrX:48524074
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Feb 8, 2013)
criteria provided, single submitter
24.
GRCh37:
ChrX:48385378
GRCh38:
ChrX:48526990
EBPChondrodysplasia punctata 2 X-linked dominantLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
25.
GRCh37:
ChrX:48385379
GRCh38:
ChrX:48526991
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Feb 8, 2013)
criteria provided, single submitter
26.
GRCh37:
ChrX:48385385
GRCh38:
ChrX:48526997
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Feb 8, 2013)
criteria provided, single submitter
27.
GRCh37:
ChrX:48385386
GRCh38:
ChrX:48526998
EBPChondrodysplasia punctata 2 X-linked dominantLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
28.
GRCh37:
ChrX:48385389
GRCh38:
ChrX:48527001
EBPChondrodysplasia punctata 2 X-linked dominantLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
29.
GRCh37:
ChrX:48385395
GRCh38:
ChrX:48527007
EBPChondrodysplasia punctata 2 X-linked dominantLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
30.
GRCh37:
ChrX:48385403
GRCh38:
ChrX:48527015
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Feb 8, 2013)
criteria provided, single submitter
31.
GRCh37:
ChrX:48385404-48385407
GRCh38:
ChrX:48527016-48527019
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Feb 8, 2013)
criteria provided, single submitter
32.
GRCh37:
ChrX:48385406
GRCh38:
ChrX:48527018
EBPChondrodysplasia punctata 2 X-linked dominantLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
33.
GRCh37:
ChrX:48385573-48385583
GRCh38:
ChrX:48527185-48527195
EBPChondrodysplasia punctata 2 X-linked dominantLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
34.
GRCh37:
ChrX:48385586
GRCh38:
ChrX:48527198
EBPChondrodysplasia punctata 2 X-linked dominantGMAF:0.00480(T)Uncertain significance
(Feb 8, 2013)
criteria provided, single submitter
35.
GRCh37:
ChrX:48385590
GRCh38:
ChrX:48527202
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Oct 2, 2000)
no assertion criteria provided
36.
GRCh37:
ChrX:48385627-48385631
GRCh38:
ChrX:48527239-48527243
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Feb 8, 2013)
criteria provided, single submitter
37.
GRCh37:
ChrX:48385644
GRCh38:
ChrX:48527256
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Feb 8, 2013)
criteria provided, single submitter
38.
GRCh37:
ChrX:48385668-48385669
GRCh38:
ChrX:48527280-48527281
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Feb 8, 2013)
criteria provided, single submitter
39.
GRCh37:
ChrX:48386632
GRCh38:
ChrX:48528244
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Feb 8, 2013)
criteria provided, single submitter
40.
GRCh37:
ChrX:48386633
GRCh38:
ChrX:48528245
EBPChondrodysplasia punctata 2 X-linked dominantLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
41.
GRCh37:
ChrX:48386636
GRCh38:
ChrX:48528248
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Feb 8, 2013)
criteria provided, single submitter
42.
GRCh37:
ChrX:48386663
GRCh38:
ChrX:48528275
EBPChondrodysplasia punctata 2 X-linked dominant, not providedGMAF:0.00030(T)Likely pathogenic
(Feb 8, 2013)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
ChrX:48386675
GRCh38:
ChrX:48528287
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Oct 2, 2000)
no assertion criteria provided
44.
GRCh37:
ChrX:48386679
GRCh38:
ChrX:48528291
EBPChondrodysplasia punctata 2 X-linked dominantLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
45.
GRCh37:
ChrX:48386739
GRCh38:
ChrX:48528351
EBPChondrodysplasia punctata 2 X-linked dominantPathogenic
(Oct 2, 2000)
no assertion criteria provided
46.
GRCh37:
ChrX:48386784
GRCh38:
ChrX:48528396
EBPChondrodysplasia punctata 2 X-linked dominantLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
47.
GRCh37:
ChrX:48386839-48386841
GRCh38:
ChrX:48528451-48528453
EBPChondrodysplasia punctata 2 X-linked dominantUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
48.
GRCh37:
ChrX:48310313-52614698
See casesUncertain significance
(Jul 24, 2015)
criteria provided, single submitter
49.
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, NGFRAP1, 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, WBP5, 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, TMEM35, 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, NLRP2P, 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, CT45A4, 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, 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, CT45A7, OPN1MW3, LINC00850, SNORA11E, MAGEA8-AS1, LINC01284, PLS3-AS1, LINC01282, LOC101927476, LOC101927501, LINC01204, LINC01186, LOC101927830, LOC101928128, LOC101928201, LOC101928259, LINC01285, LOC101928335, LOC101928336, PABPC1L2B-AS1, LOC101928358, LOC101928402, LOC101928437, MIR325HG, LOC101928495, LOC101928564, RAP2C-AS1, LOC101928627, 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, LOC105373300, LOC105373383
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
50.
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, NGFRAP1, 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, WBP5, 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, TMEM35, 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, NLRP2P, 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, CT45A4, 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, 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, CT45A7, OPN1MW3, LINC00850, SNORA11E, MAGEA8-AS1, LINC01284, PLS3-AS1, LINC01282, LOC101927476, LOC101927501, LINC01204, LINC01186, LOC101927830, LOC101928128, LOC101928201, LOC101928259, LINC01285, LOC101928335, LOC101928336, PABPC1L2B-AS1, LOC101928358, LOC101928402, LOC101928437, MIR325HG, LOC101928495, LOC101928564, RAP2C-AS1, LOC101928627, 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, LOC105373300, LOC105373383
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
51.
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, NGFRAP1, 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, WBP5, 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, TMEM35, 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, NLRP2P, 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, CT45A4, 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, 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, CT45A7, OPN1MW3, LINC00850, SNORA11E, MAGEA8-AS1, LINC01284, PLS3-AS1, LINC01282, LOC101927476, LOC101927501, LINC01204, LINC01186, LOC101927830, LOC101928128, LOC101928201, LOC101928259, LINC01285, LOC101928335, LOC101928336, PABPC1L2B-AS1, LOC101928358, LOC101928402, LOC101928437, MIR325HG, LOC101928495, LOC101928564, RAP2C-AS1, LOC101928627, 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, LOC105373300, LOC105373383
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
52.
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, NGFRAP1, 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, WBP5, 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, TMEM35, 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, NLRP2P, 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, CT45A4, 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, 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, CT45A7, OPN1MW3, LINC00850, SNORA11E, MAGEA8-AS1, LINC01284, PLS3-AS1, LINC01282, LOC101927476, LOC101927501, LINC01204, LINC01186, LOC101927830, LOC101928128, LOC101928201, LOC101928259, LINC01285, LOC101928335, LOC101928336, PABPC1L2B-AS1, LOC101928358, LOC101928402, LOC101928437, MIR325HG, LOC101928495, LOC101928564, RAP2C-AS1, LOC101928627, 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, LOC105373300, LOC105373383
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
53.
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, NGFRAP1, 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, WBP5, 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, TMEM35, 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, NLRP2P, 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, CT45A4, 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, 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,