S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 1 to 100 of 108

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Oct 16, 2004)
no assertion criteria provided
2.
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Apr 20, 2011)
no assertion criteria provided
3.
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Jan 1, 2004)
no assertion criteria provided
4.
GRCh37:
ChrX:73641251
GRCh38:
ChrX:74421416
SLC16A2not specifiedLikely benign
(Jan 9, 2015)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
ChrX:73641274
GRCh38:
ChrX:74421439
SLC16A2not providedUncertain significance
(Jan 22, 2015)
criteria provided, single submitter
6.
GRCh37:
ChrX:73641371-73641376
GRCh38:
ChrX:74421536-74421541
SLC16A2not specifiedBenign
(Aug 4, 2014)
criteria provided, single submitter
7.
GRCh37:
ChrX:73641420
GRCh38:
ChrX:74421585
SLC16A2Allan-Herndon-Dudley syndromeUncertain significance
(Aug 7, 2013)
criteria provided, single submitter
8.
GRCh37:
ChrX:73641569
GRCh38:
ChrX:74421734
SLC16A2Allan-Herndon-Dudley syndrome, not specifiedGO-ESP:0.46152(C)
GMAF:0.33620(T)
Benign
(Jul 30, 2014)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
ChrX:73641595
GRCh38:
ChrX:74421760
SLC16A2not specifiedGMAF:0.01030(T)Benign
(May 26, 2015)
criteria provided, single submitter
10.
GRCh37:
ChrX:73641711
GRCh38:
ChrX:74421876
SLC16A2not specifiedUncertain significance
(Aug 20, 2014)
criteria provided, single submitter
11.
GRCh37:
ChrX:73641728
GRCh38:
ChrX:74421893
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Feb 8, 2013)
criteria provided, single submitter
12.
GRCh37:
ChrX:73641737
GRCh38:
ChrX:74421902
SLC16A2Spastic paraplegiaLikely benign
(Feb 24, 2016)
criteria provided, single submitter
13.
GRCh37:
ChrX:73641749
GRCh38:
ChrX:74421914
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Feb 8, 2013)
criteria provided, single submitter
14.
GRCh37:
ChrX:73641788
GRCh38:
ChrX:74421953
SLC16A2not providedUncertain significance
(Apr 3, 2015)
criteria provided, single submitter
15.
GRCh37:
ChrX:73641798
GRCh38:
ChrX:74421963
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Dec 9, 2014)
criteria provided, single submitter
16.
GRCh37:
ChrX:73641825
GRCh38:
ChrX:74421990
SLC16A2Allan-Herndon-Dudley syndromeLikely pathogenic
(May 19, 2015)
criteria provided, single submitter
17.
GRCh37:
ChrX:73641831
GRCh38:
ChrX:74421996
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Mar 9, 2010)
no assertion criteria provided
18.
GRCh37:
ChrX:73641846
GRCh38:
ChrX:74422011
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Aug 28, 2013)
criteria provided, single submitter
19.
GRCh37:
ChrX:73641884
GRCh38:
ChrX:74422049
SLC16A2not provided, Spastic paraplegiaGO-ESP:0.00076(G)Conflicting interpretations of pathogenicity
(Jun 6, 2015)
criteria provided, conflicting interpretations
20.
GRCh37:
ChrX:73740843
GRCh38:
ChrX:74521008
SLC16A2Allan-Herndon-Dudley syndromeLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
21.
GRCh37:
ChrX:73740843
GRCh38:
ChrX:74521008
SLC16A2Allan-Herndon-Dudley syndrome, not providedPathogenic
(Apr 9, 2013)
criteria provided, single submitter
22.
GRCh37:
ChrX:73740861-73740863
GRCh38:
ChrX:74521026-74521028
SLC16A2Allan-Herndon-Dudley syndromePathogenic/Likely pathogenic
(Jan 26, 2015)
criteria provided, single submitter
23.
GRCh37:
ChrX:73744208
GRCh38:
ChrX:74524373
SLC16A2not providedUncertain significance
(Mar 24, 2014)
criteria provided, single submitter
24.
GRCh37:
ChrX:73744222
GRCh38:
ChrX:74524387
SLC16A2not providedUncertain significance
(Apr 9, 2015)
criteria provided, single submitter
25.
GRCh37:
ChrX:73744265
GRCh38:
ChrX:74524430
SLC16A2not providedUncertain significance
(Jul 24, 2013)
criteria provided, single submitter
26.
GRCh37:
ChrX:73744457
GRCh38:
ChrX:74524622
SLC16A2not providedUncertain significance
(Aug 13, 2013)
criteria provided, single submitter
27.
GRCh37:
ChrX:73744491
GRCh38:
ChrX:74524656
SLC16A2Allan-Herndon-Dudley syndrome, not specified, Spastic paraplegia
GO-ESP:0.00814(T)
GMAF:0.00690(T)
Benign
(Aug 16, 2015)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
ChrX:73744534
GRCh38:
ChrX:74524699
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Feb 8, 2013)
criteria provided, single submitter
29.
GRCh37:
ChrX:73744558
GRCh38:
ChrX:74524723
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Jun 11, 2014)
criteria provided, single submitter
30.
GRCh37:
ChrX:73744567
GRCh38:
ChrX:74524732
SLC16A2not specifiedGMAF:0.00210(T)Uncertain significance
(Oct 8, 2014)
criteria provided, single submitter
31.
GRCh37:
ChrX:73744597
GRCh38:
ChrX:74524762
SLC16A2Allan-Herndon-Dudley syndromeLikely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
32.
GRCh37:
ChrX:73745637
GRCh38:
ChrX:74525802
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Mar 9, 2010)
no assertion criteria provided
33.
GRCh37:
ChrX:73745669
GRCh38:
ChrX:74525834
SLC16A2Allan-Herndon-Dudley syndrome, not providedPathogenic/Likely pathogenic
(May 19, 2014)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
ChrX:73745679
GRCh38:
ChrX:74525844
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(May 1, 2008)
no assertion criteria provided
35.
GRCh37:
ChrX:73749067
GRCh38:
ChrX:74529232
SLC16A2Allan-Herndon-Dudley syndrome, Intellectual disabilityPathogenic
(Jul 25, 2014)
criteria provided, single submitter
36.
GRCh37:
ChrX:73749130
GRCh38:
ChrX:74529295
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Apr 11, 2013)
no assertion criteria provided
37.
GRCh37:
ChrX:73749155-73749157
GRCh38:
ChrX:74529320-74529322
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Mar 9, 2010)
no assertion criteria provided
38.
GRCh37:
ChrX:73749190
GRCh38:
ChrX:74529355
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Jan 1, 2004)
no assertion criteria provided
39.
GRCh37:
ChrX:73749269
GRCh38:
ChrX:74529434
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Feb 8, 2013)
criteria provided, single submitter
40.
GRCh37:
ChrX:73749319
GRCh38:
ChrX:74529484
SLC16A2not specifiedGMAF:0.34380(G)Likely benignno assertion criteria provided
41.
GRCh37:
ChrX:73751219
GRCh38:
ChrX:74531384
SLC16A2Malignant tumor of prostateUncertain significanceno assertion criteria provided
42.
GRCh37:
ChrX:73751236
GRCh38:
ChrX:74531401
SLC16A2not providedUncertain significance
(Mar 31, 2015)
criteria provided, single submitter
43.
GRCh37:
ChrX:73751242-73751249
GRCh38:
ChrX:74531407-74531414
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Feb 8, 2013)
criteria provided, single submitter
44.
GRCh37:
ChrX:73751249
GRCh38:
ChrX:74531414
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Mar 9, 2010)
no assertion criteria provided
45.
GRCh37:
ChrX:73751364
GRCh38:
ChrX:74531529
SLC16A2not providedGMAF:0.00030(T)Uncertain significance
(Feb 6, 2014)
criteria provided, single submitter
46.
GRCh37:
ChrX:73751380
GRCh38:
ChrX:74531545
SLC16A2Allan-Herndon-Dudley syndromePathogenic
(Mar 9, 2010)
no assertion criteria provided
47.
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
48.
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
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, 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
50.
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
51.
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,