ClinVar Miner

Variants studied for Syndromic X-linked intellectual disability Lubs type

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
17 5 1 0 0 23

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MECP2 12 5 1 18
ABCB7, ABCD1, ACE2, ACOT9, ACSL4, ACTRT1, ADGRG2, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, AKAP4, ALAS2, ALG13, AMER1, AMMECR1, AMOT, AP1S2, APEX2, APLN, APOO, APOOL, AR, ARAF, ARHGAP36, ARHGAP4, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ARX, ASB11, ASB12, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP2, ATP7A, ATRX, AVPR2, AWAT1, AWAT2, BCAP31, BCLAF3, BCOR, BCORL1, BEND2, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BMP15, BMX, BRS3, BRWD3, BTK, C1GALT1C1, CA5B, CACNA1F, CAPN6, CASK, CBLL2, CCDC120, CCDC160, CCDC22, CCNB3, CCNQ, CD40LG, CD99L2, CDK16, CDKL5, CDR1, CDX4, CENPI, CETN2, CFAP47, CFP, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN5, CLDN2, CLTRN, CNGA2, CNKSR2, COL4A5, COL4A6, COX7B, CPXCR1, CSAG1, CSAG3, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CTPS2, CUL4B, CXCR3, CXorf38, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf58, CXorf65, CXorf66, CYBB, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCAF8L1, DCAF8L2, DCX, DDX3X, DDX53, DGAT2L6, DGKK, DIAPH2, DIPK2B, DLG3, DMD, DMRTC1, DMRTC1B, DNAAF6, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, ENOX2, EOLA1, EOLA2, ERAS, ERCC6L, ESX1, F9, FAAH2, FAM104B, FAM120C, FAM133A, FAM156A, FAM156B, FAM199X, FAM47A, FAM47B, FAM47C, FATE1, FGD1, FGF13, FGF16, FHL1, FMR1, FMR1NB, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FTHL17, FTSJ1, FTX, FUNDC1, GABRA3, GABRE, GABRQ, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, GDPD2, GJB1, GK, GLA, GLOD5, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPR101, GPR119, GPR173, GPR174, GPR34, GPR50, GPR82, GPRASP1, GPRASP2, GPRASP3, GRIA3, GRIPAP1, GRPR, GSPT2, GUCY2F, H2AP, H2BW1, H2BW2, HAUS7, HCFC1, HDAC6, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HSFX1, HSFX2, HTATSF1, HTR2C, HUWE1, IDH3G, IDS, IGBP1, IGSF1, IL13RA1, IL13RA2, IL1RAPL1, IL1RAPL2, IL2RG, INE1, INE2, INTS6L, IQSEC2, IRAK1, IRS4, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL15, KLHL34, KLHL4, KRBOX4, L1CAM, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC01560, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAMLD1, MAOA, MAOB, MAP3K15, MAP7D2, MAP7D3, MBNL3, MBTPS2, MCF2, MCTS1, MECP2, MED12, MED14, MID1IP1, MID2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR424, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MIR532, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MPC1L, MSN, MTM1, MTMR1, MTMR8, MTRNR2L10, NAA10, NALF2, NAP1L2, NAP1L3, NDP, NDUFA1, NDUFB11, NEXMIF, NHS, NHSL2, NKAP, NKRF, NLGN3, NONO, NOX1, NR0B1, NRK, NSDHL, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, NYX, OCRL, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PAK3, PASD1, PBDC1, PCDH11X, PCDH19, PCSK1N, PCYT1B, PDHA1, PDK3, PDZD11, PDZD4, PFKFB1, PGAM4, PGK1, PGRMC1, PHEX, PHF6, PHF8, PHKA1, PHKA2, PIGA, PIM2, PIN4, PIR, PJA1, PLAC1, PLP1, PLP2, PLS3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, POF1B, POLA1, PORCN, POU3F4, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRPS1, PRR32, PRRG1, PRRG3, PSMD10, PTCHD1, PWWP3B, RAB33A, RAB40A, RAB40AL, RAB41, RAB9B, RADX, RAI2, RAP2C, RBBP7, RBM10, RBM3, RBM41, RBMX, RBMX2, RBMXL3, RENBP, REPS2, RGN, RHOXF1, RHOXF2, RHOXF2B, RIBC1, RIPPLY1, RLIM, RNF113A, RNF128, RP2, RPA4, RPGR, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RPS6KA3, RPS6KA6, RRAGB, RS1, RTL3, RTL4, RTL5, RTL8A, RTL8B, RTL8C, RTL9, S100G, SAGE1, SASH3, SAT1, SATL1, SCML1, SCML2, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SH3KBP1, SHROOM4, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC35A2, SLC38A5, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLC9A7, SLITRK2, SLITRK4, SMARCA1, SMC1A, SMIM10, SMPX, SMS, SNORA11, SNX12, SOWAHD, SOX3, SPACA5, SPACA5B, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPK3, SRPX, SRPX2, SSR4, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STARD8, STEEP1, STK26, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL4, SYTL5, TAB3, TAF1, TAF7L, TAF9B, TASL, TBC1D25, TBC1D8B, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TKTL1, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMEM47, TMSB15A, TMSB15B, TNMD, TREX2, TRMT2B, TRO, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, UBE2A, UBE2NL, UBQLN2, UPF3B, UPRT, USP11, USP26, USP27X, USP51, USP9X, UTP14A, UXT, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WDR13, WDR44, WDR45, WNK3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZFP92, ZFX, ZIC3, ZMAT1, ZMYM3, ZNF157, ZNF182, ZNF185, ZNF275, ZNF280C, ZNF41, ZNF449, ZNF630, ZNF674, ZNF711, ZNF75D, ZNF81, ZRSR2, ZXDA, ZXDB 1 0 0 1
ABCD1, AFF2, ARHGAP4, ATP2B3, ATP6AP1, ATP6AP1-DT, AVPR2, BCAP31, BGN, CCNQ, CD99L2, CETN2, CNGA2, CSAG1, CSAG2, CSAG3, CTAG1A, CTAG1B, CTAG2, CXorf51A, CXorf51B, DNASE1L1, DUSP9, EMD, EOLA1, EOLA1-DT, EOLA2, EOLA2-DT, FAM223A, FAM223B, FAM3A, FAM50A, FATE1, FLNA, FMR1, FMR1NB, FRAXA, FRAXE, G6PD, GABRA3, GABRE, GABRQ, GDI1, GPR50, HAUS7, HCFC1, HMGB3, HSFX1, HSFX2, HSFX3, HSFX4, IDH3G, IDS, IKBKG, IRAK1, L1CAM, LAGE3, LDOC1, LINC00850, LINC02927, LOC100533997, LOC105373367, LOC105373378, LOC105373383, LOC105377213, LOC106050102, LOC106050103, LOC107032825, LOC107048982, LOC107048984, LOC107181288, LOC107988021, LOC107988022, LOC107988024, LOC107988025, LOC107988032, LOC107988033, LOC108281126, LOC109396974, LOC110121199, LOC111365170, LOC111589209, LOC113875014, LOC116309161, LOC116309162, LOC121627982, LOC121627983, LOC121627985, LOC121853070, LOC121853071, LOC121853072, LOC122319696, LOC125467790, LOC125467791, LOC125467792, LOC125467793, LOC126863333, LOC126863334, LOC126863335, LOC126863336, LOC126863337, LOC126863338, LOC126863339, LOC126863340, LOC126863341, LOC126863342, LOC126863343, LOC126863344, LOC126863345, LOC126863346, LOC126863347, LOC129391317, LOC129391318, LOC129929048, LOC129929049, LOC129929050, LOC129929051, LOC129929052, LOC129929053, LOC130068774, LOC130068775, LOC130068776, LOC130068777, LOC130068778, LOC130068779, LOC130068780, LOC130068781, LOC130068782, LOC130068783, LOC130068784, LOC130068785, LOC130068786, LOC130068787, LOC130068788, LOC130068789, LOC130068790, LOC130068791, LOC130068792, LOC130068793, LOC130068794, LOC130068795, LOC130068796, LOC130068797, LOC130068798, LOC130068799, LOC130068800, LOC130068801, LOC130068802, LOC130068803, LOC130068804, LOC130068805, LOC130068806, LOC130068807, LOC130068808, LOC130068809, LOC130068810, LOC130068811, LOC130068812, LOC130068813, LOC130068814, LOC130068815, LOC130068816, LOC130068817, LOC130068818, LOC130068819, LOC130068820, LOC130068821, LOC130068822, LOC130068823, LOC130068824, LOC130068825, LOC130068826, LOC130068827, LOC130068828, LOC130068829, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, LOC130068835, LOC130068836, LOC130068837, LOC130068838, LOC130068839, LOC130068840, LOC130068841, LOC130068842, LOC130068843, LOC130068844, LOC130068845, LOC130068846, LOC130068847, LOC130068848, LOC130068849, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068854, LOC130068855, LOC130068856, LOC130068857, LOC130068858, LOC130068859, LOC130068860, LOC130068861, LOC130068862, LOC130068863, LOC130068864, LOC130068865, LOC130068866, LOC130068867, LOC130068868, LOC130068869, LOC130068870, LOC130068871, LOC130068872, LOC130068873, LOC130068874, LOC130068875, LOC130068876, LOC130068877, LOC130068878, LOC130068879, LOC130068880, LOC130068881, LOC645188, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEC1, MAGEC2, MAGEC3, MAMLD1, MECP2, MIR105-1, MIR105-2, MIR12129, MIR2114, MIR224, MIR3202-1, MIR3202-2, MIR320D2, MIR4330, MIR452, MIR506, MIR507, MIR508, MIR509-1, MIR509-2, MIR509-3, MIR510, MIR513A1, MIR513A2, MIR513B, MIR513C, MIR514A1, MIR514A2, MIR514A3, MIR514B, MIR6858, MIR718, MIR767, MIR888, MIR890, MIR891A, MIR891B, MIR892A, MIR892B, MIR892C, MTM1, MTMR1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, PASD1, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PNMA6F, PRRG3, PWWP4, RENBP, RPL10, SLC10A3, SLC6A8, SLITRK2, SLITRK4, SNORA70, SPANXA1, SPANXA2, SPANXA2-OT1, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM185A, TMEM187, TREX2, UBE2NL, UBL4A, VMA21, ZFP92, ZNF185, ZNF275 1 0 0 1
ABCD1, AFF2, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CD99L2, CDR1, CETN2, CLIC2, CMC4, CNGA2, CSAG1, CSAG3, CTAG1A, CTAG1B, CTAG2, CXorf51A, CXorf51B, DKC1, DNASE1L1, DUSP9, EMD, EOLA1, EOLA2, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FATE1, FLNA, FMR1, FMR1NB, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GDI1, GPR50, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, HMGB3, HSFX1, HSFX2, IDH3G, IDS, IKBKG, IRAK1, L1CAM, LAGE3, LDOC1, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEC1, MAGEC2, MAGEC3, MAMLD1, MECP2, MIR105-1, MIR105-2, MIR224, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MPP1, MTCP1, MTM1, MTMR1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PASD1, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PRRG3, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SLITRK2, SLITRK4, SMIM9, SOX3, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM185A, TMEM187, TMLHE, TREX2, UBE2NL, UBL4A, VBP1, VMA21, ZFP92, ZNF185, ZNF275 1 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF275 1 0 0 1
ARHGAP4, AVPR2, FLNA, HCFC1, IRAK1, L1CAM, LOC107988032, LOC111365170, LOC116309162, LOC125467793, LOC129929050, LOC129929051, LOC130068837, LOC130068838, LOC130068839, LOC130068840, LOC130068841, LOC130068842, LOC130068843, LOC130068844, LOC130068845, LOC130068846, LOC130068847, LOC130068848, LOC130068849, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068854, LOC130068855, MECP2, MIR3202-1, MIR3202-2, MIR718, NAA10, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, RENBP, TEX28, TKTL1, TMEM187 1 0 0 1
ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TMEM187 1 0 0 1
ARHGAP4, EMD, FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 1 0 0 1
EMD, FLNA, HCFC1, IRAK1, MECP2, OPN1LW, OPN1MW, OPN1MW2, TEX28, TKTL1, TMEM187 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance total
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 1 1 9
Baylor Genetics 3 1 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 2
OMIM 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 1
New York Genome Center 1 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 1

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