ClinVar Miner

Variants studied for Klinefelter syndrome

Included ClinVar conditions (1):
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
5 0 0 0 0 5

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic total
ABCB7, ABCD1, ACE2, ACOT9, ACSL4, ACTRT1, ADGRG2, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, AKAP4, ALAS2, ALG13, AMELX, AMER1, AMMECR1, AMOT, ANOS1, AP1S2, APEX2, APLN, APOO, APOOL, AR, ARAF, ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ARSD, ARSF, ARSH, ARSL, ARX, ASB11, ASB12, ASB9, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP1, ATP6AP2, ATP7A, ATRX, ATXN3L, AVPR2, AWAT1, AWAT2, BCAP31, BCLAF3, BCOR, BCORL1, BEND2, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BMP15, BMX, BRCC3, 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, CLCN4, CLCN5, CLDN2, CLIC2, CLTRN, CMC4, 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, CTAG1A, CTAG1B, CTAG2, 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, DKC1, DLG3, DMD, DMRTC1, DMRTC1B, DNAAF6, DNASE1L1, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EGFL6, EIF1AX, EIF2S3, ELF4, ELK1, EMD, ENOX2, EOLA1, EOLA2, ERAS, ERCC6L, ESX1, F8, F8A1, F8A2, F8A3, F9, FAAH2, FAM120C, FAM133A, FAM156A, FAM156B, FAM199X, FAM3A, FAM47A, FAM47B, FAM47C, FAM50A, FAM9A, FAM9B, FAM9C, FANCB, FATE1, FGD1, FGF13, FGF16, FHL1, FLNA, FMR1, FMR1NB, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FRMPD4, FTHL17, FTSJ1, FTX, FUNDC1, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, GDI1, GDPD2, GEMIN8, GJB1, GK, GLA, GLOD5, GLRA2, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPM6B, GPR101, GPR119, GPR143, GPR173, GPR174, GPR34, GPR50, GPR82, GPRASP1, GPRASP2, GPRASP3, GRIA3, GRIPAP1, GRPR, GSPT2, GUCY2F, GYG2, H2AB1, H2AB2, H2AB3, H2AP, H2BW1, H2BW2, HAUS7, HCCS, HCFC1, HDAC6, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HSFX1, HSFX2, HTATSF1, HTR2C, HUWE1, IDH3G, IDS, IGBP1, IGSF1, IKBKG, 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, LAGE3, 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, MID1, 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, MOSPD2, MPC1L, MPP1, MSL3, MSN, MTCP1, MTM1, MTMR1, MTMR8, MTRNR2L10, MXRA5, NAA10, NALF2, NAP1L2, NAP1L3, NDP, NDUFA1, NDUFB11, NEXMIF, NHS, NHSL2, NKAP, NKRF, NLGN3, NLGN4X, NONO, NOX1, NR0B1, NRK, NSDHL, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, NYX, OCRL, OFD1, 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, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PNPLA4, POF1B, POLA1, PORCN, POU3F4, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRPS1, PRPS2, PRR32, PRRG1, PRRG3, PSMD10, PTCHD1, PUDP, PWWP3B, RAB33A, RAB39B, RAB40A, RAB40AL, RAB41, RAB9A, 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, RPL10, 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, SHROOM2, SHROOM4, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC35A2, SLC38A5, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLC9A7, SLITRK2, SLITRK4, SMARCA1, SMC1A, SMIM10, SMIM9, 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, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL4, SYTL5, TAB3, TAF1, TAF7L, TAF9B, TAFAZZIN, TASL, TBC1D25, TBC1D8B, TBL1X, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCEANC, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TKTL1, TLR7, TLR8, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMEM47, TMLHE, TMSB15A, TMSB15B, TMSB4X, TNMD, TRAPPC2, TREX2, TRMT2B, TRO, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, UBE2A, UBE2NL, UBL4A, UBQLN2, UPF3B, UPRT, USP11, USP26, USP27X, USP51, USP9X, UTP14A, UXT, VBP1, VCF2, VCX, VCX2, VCX3A, VCX3B, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WDR13, WDR44, WDR45, WNK3, WWC3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, 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 2 2
ABCB7, ABCD1, ACE2, ACE2-DT, ACOT9, ACSL4, ACTRT1, ADGRG2, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, AKAP4, ALAS2, ALG13, AMELX, AMER1, AMMECR1, AMOT, ANOS1, AP1S2, APEX2, APLN, APOO, APOOL, AR, ARAF, ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF6, ARHGEF9, ARHGEF9-IT1, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ARSD, ARSF, ARSH, ARSL, ARX, ASB11, ASB12, ASB9, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP1, ATP6AP1-DT, ATP6AP2, ATP7A, ATRX, ATXN3L, AVPR2, AWAT1, AWAT2, BCAP31, BCLAF3, BCOR, BCORL1, BEND2, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BMP15, BMX, BRCC3, BRS3, BRWD3, BTK, C1GALT1C1, CA5B, CA5BP1-CA5B, CACNA1F, CAPN6, CASK, CBLL2, CCDC120, CCDC160, CCDC22, CCNB3, CCNQ, CD40LG, CD99L2, CDK16, CDKL5, CDR1, CDX4, CENPI, CENPVL1, CENPVL2, CENPVL3, CETN2, CFAP47, CFP, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN4, CLCN5, CLDN2, CLDN34, CLIC2, CLTRN, CMC4, CNGA2, CNKSR2, COL4A5, COL4A6, COX7B, CPXCR1, CRIPTO3, CSAG1, CSAG2, CSAG3, CSTF2, CT45A1, CT45A10, CT45A2, CT45A3, CT45A5, CT45A6, CT45A7, CT45A8, CT45A9, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT47C1, CT55, CT83, CTAG1A, CTAG1B, CTAG2, CTPS2, CUL4B, CXCR3, CXorf38, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf58, CXorf65, CXorf66, CYBB, CYLC1, CYSLTR1, DACH2, DANT1, DANT2, DCAF12L1, DCAF12L2, DCAF8L1, DCAF8L2, DCX, DDX3X, DDX53, DGAT2L6, DGKK, DIAPH2, DIPK2B, DKC1, DLG3, DMD, DMRTC1, DMRTC1B, DNAAF6, DNASE1L1, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EGFL6, EIF1AX, EIF2S3, ELF4, ELK1, EMD, ENOX2, EOLA1, EOLA1-DT, EOLA2, EOLA2-DT, ERAS, ERCC6L, ESX1, ETDA, ETDB, ETDC, EZHIP, F8, F8A1, F8A2, F8A3, F9, FAAH2, FAM120C, FAM133A, FAM156A, FAM156B, FAM199X, FAM223A, FAM223B, FAM226A, FAM226B, FAM236A, FAM236B, FAM236C, FAM236D, FAM3A, FAM47A, FAM47B, FAM47C, FAM50A, FAM9A, FAM9B, FAM9C, FANCB, FATE1, FGD1, FGF13, FGF16, FHL1, FIRRE, FLICR, FLJ44635, FLNA, FMR1, FMR1NB, FOXO4, FOXP3, FOXR2, FRAXA, FRAXE, FRMD7, FRMPD3, FRMPD4, FTHL17, FTSJ1, FTX, FUNDC1, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GAGE1, GAGE10, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GATA1, GCNA, GDI1, GDPD2, GEMIN8, GJB1, GK, GLA, GLOD5, GLRA2, GLUD2, GNG5B, GNL3L, GPC3, GPC4, GPKOW, GPM6B, GPR101, GPR119, GPR143, GPR173, GPR174, GPR34, GPR50, GPR82, GPRASP1, GPRASP2, GPRASP3, GRIA3, GRIPAP1, GRPR, GS1-600G8.3, GSPT2, GUCY2F, GYG2, H2AB1, H2AB2, H2AB3, H2AL3, H2AP, H2BW1, H2BW2, HAPSTR2, HAUS7, HCCS, HCCS-DT, HCFC1, HDAC6, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HSFX1, HSFX2, HSFX3, HSFX4, HTATSF1, HTR2C, HUWE1, IDH3G, IDS, IGBP1, IGSF1, IKBKG, IL13RA1, IL13RA2, IL1RAPL1, IL1RAPL2, IL2RG, IL9R, INE1, INE2, INTS6L, IQSEC2, IRAK1, IRS4, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KANTR, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL15, KLHL34, KLHL4, KRBOX4, L1CAM, LAGE3, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC00269, LINC00629, LINC00630, LINC00632, LINC00850, LINC00891, LINC00892, LINC01186, LINC01201, LINC01203, LINC01204, LINC01278, LINC01281, LINC01282, LINC01283, LINC01284, LINC01285, LINC01402, LINC01456, LINC01496, LINC01545, LINC01546, LINC01560, LINC02154, LINC02243, LINC02589, LINC02595, LINC02601, LINC02927, LINC02931, LINC03077, LINC03098, LINC03099, LL0XNC01-250H12.3, LOC100126447, LOC100132741, LOC100506790, LOC100533997, LOC101059915, LOC101927830, LOC101928128, LOC101928201, LOC101928335, LOC101928389, LOC101928437, LOC101928495, LOC101928627, LOC105373133, LOC105373150, LOC105373156, LOC105373244, LOC105373311, LOC105373335, LOC105373367, LOC105373378, LOC105373383, LOC105377213, LOC106029240, LOC106029241, LOC106050102, LOC106050103, LOC106146143, LOC106146144, LOC106146150, LOC106146151, LOC106146152, LOC106799844, LOC107032760, LOC107032825, LOC107048982, LOC107048984, LOC107181288, LOC107522039, LOC107838685, LOC107985657, LOC107985687, LOC107988021, LOC107988022, LOC107988024, LOC107988025, LOC107988032, LOC107988033, LOC108281126, LOC108281134, LOC108410393, LOC108511947, LOC108663984, LOC109286564, LOC109396974, LOC109504725, LOC109610631, LOC110120592, LOC110120593, LOC110120594, LOC110120595, LOC110120596, LOC110120597, LOC110120679, LOC110120680, LOC110120711, LOC110120737, LOC110120761, LOC110121198, LOC110121199, LOC111242786, LOC111365170, LOC111365174, LOC111365193, LOC111365200, LOC111365226, LOC111429618, LOC111464987, LOC111556151, LOC111589209, LOC111828531, LOC113845780, LOC113845781, LOC113845782, LOC113845783, LOC113845784, LOC113845785, LOC113845786, LOC113845787, LOC113845788, LOC113845789, LOC113875006, LOC113875007, LOC113875008, LOC113875009, LOC113875010, LOC113875011, LOC113875012, LOC113875013, LOC113875014, LOC113875015, LOC113875016, LOC113875017, LOC113875018, LOC113875019, LOC113875020, LOC113875021, LOC113875022, LOC113875023, LOC113875024, LOC113875025, LOC113875026, LOC113875027, LOC113875028, LOC113875029, LOC113875030, LOC113875031, LOC113875032, LOC113875033, LOC113875034, LOC113875035, LOC113875036, LOC113875037, LOC113875038, LOC113875039, LOC113875040, LOC114022705, LOC114022706, LOC114022707, LOC114022708, LOC116309138, LOC116309139, LOC116309142, LOC116309143, LOC116309144, LOC116309145, LOC116309146, LOC116309147, LOC116309148, LOC116309149, LOC116309150, LOC116309151, LOC116309152, LOC116309153, LOC116309154, LOC116309155, LOC116309156, LOC116309157, LOC116309158, LOC116309159, LOC116309160, LOC116309161, LOC116309162, LOC117134593, LOC118966792, LOC119369038, LOC119369039, LOC119407397, LOC119407398, LOC119407399, LOC119407400, LOC119407401, LOC119407402, LOC119407403, LOC119407404, LOC119407405, LOC119407406, LOC119407407, LOC119407408, LOC119407411, LOC119407412, LOC119407413, LOC119407414, LOC119407415, LOC119407416, LOC119407417, LOC119407418, LOC119407419, LOC119407420, LOC119407421, LOC119407422, LOC121627957, LOC121627958, LOC121627960, LOC121627961, LOC121627962, LOC121627963, LOC121627964, LOC121627965, LOC121627966, LOC121627967, LOC121627968, LOC121627969, LOC121627970, LOC121627971, LOC121627972, LOC121627973, LOC121627974, LOC121627975, LOC121627976, LOC121627977, LOC121627978, LOC121627979, LOC121627980, LOC121627981, LOC121627982, LOC121627983, LOC121627985, LOC121627986, LOC121853049, LOC121853050, LOC121853051, LOC121853052, LOC121853053, LOC121853054, LOC121853055, LOC121853056, LOC121853057, LOC121853058, LOC121853059, LOC121853060, LOC121853061, LOC121853062, LOC121853063, LOC121853064, LOC121853065, LOC121853066, LOC121853067, LOC121853068, LOC121853069, LOC121853070, LOC121853071, LOC121853072, LOC122319696, LOC125446265, LOC125446266, LOC125446268, LOC125446269, LOC125446270, LOC125446271, LOC125446272, LOC125446273, LOC125446274, LOC125446275, LOC125446276, LOC125446277, LOC125446278, LOC125446279, LOC125446280, LOC125446283, LOC125467738, LOC125467739, LOC125467740, LOC125467741, LOC125467745, LOC125467746, LOC125467747, LOC125467748, LOC125467749, LOC125467753, LOC125467754, LOC125467755, LOC125467756, LOC125467759, LOC125467760, LOC125467761, LOC125467762, LOC125467763, LOC125467764, LOC125467765, LOC125467766, LOC125467767, LOC125467768, LOC125467769, LOC125467770, LOC125467771, LOC125467773, LOC125467775, LOC125467776, LOC125467777, LOC125467778, LOC125467779, LOC125467781, LOC125467782, LOC125467783, LOC125467784, LOC125467785, LOC125467786, LOC125467787, LOC125467789, LOC125467790, LOC125467791, LOC125467792, LOC125467793, LOC125467794, LOC125467795, LOC126863189, LOC126863190, LOC126863191, LOC126863192, LOC126863193, LOC126863194, LOC126863195, LOC126863196, LOC126863197, LOC126863198, LOC126863199, LOC126863200, LOC126863201, LOC126863202, LOC126863203, LOC126863204, LOC126863205, LOC126863206, LOC126863207, LOC126863208, LOC126863209, LOC126863210, LOC126863211, LOC126863212, LOC126863213, LOC126863214, LOC126863215, LOC126863216, LOC126863217, LOC126863218, LOC126863219, LOC126863220, LOC126863221, LOC126863222, LOC126863223, LOC126863224, LOC126863225, LOC126863226, LOC126863227, LOC126863228, LOC126863229, LOC126863230, LOC126863231, LOC126863232, LOC126863233, LOC126863234, LOC126863235, LOC126863236, LOC126863237, LOC126863238, LOC126863239, LOC126863240, LOC126863241, LOC126863242, LOC126863243, LOC126863244, LOC126863245, LOC126863246, LOC126863247, LOC126863248, LOC126863249, LOC126863250, LOC126863251, LOC126863252, LOC126863253, LOC126863254, LOC126863255, LOC126863256, LOC126863257, LOC126863258, LOC126863259, LOC126863260, LOC126863261, LOC126863262, LOC126863263, LOC126863264, LOC126863265, LOC126863266, LOC126863267, LOC126863268, LOC126863269, LOC126863270, LOC126863271, LOC126863272, LOC126863273, LOC126863274, LOC126863275, LOC126863276, LOC126863277, LOC126863278, LOC126863279, LOC126863280, LOC126863281, LOC126863282, LOC126863283, LOC126863284, LOC126863285, LOC126863286, LOC126863287, LOC126863288, LOC126863289, LOC126863290, LOC126863291, 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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, LOC130068882, LOC130068883, LOC130068884, LOC130068885, LOC130068886, LOC130068887, LOC130068888, LOC130068889, LOC130068890, LOC130068891, LOC130068892, LOC130068893, LOC130068894, LOC130068895, LOC130068896, LOC130068897, LOC130068898, LOC286437, LOC401589, LOC645188, LOC728660, LOC729609, 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, MAGEB6B, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAMLD1, MAOA, MAOB, MAP3K15, MAP7D2, MAP7D3, MBNL3, MBTPS2, MCF2, MCTS1, MECP2, MED12, MED14, MED14OS, MID1, MID1IP1, MID2, MIR105-1, MIR105-2, MIR106A, MIR1184-1, MIR1184-2, MIR1184-3, MIR12129, MIR1264, MIR1277, MIR1298, MIR1321, MIR1468, MIR1587, MIR188, MIR18B, MIR1911, MIR1912, MIR19B2, MIR20B, MIR2114, MIR221, MIR222, MIR222HG, MIR223, MIR223HG, MIR224, MIR23C, MIR3202-1, MIR3202-2, MIR320D2, MIR325, MIR325HG, MIR361, MIR362, MIR363, MIR3672, MIR374A, MIR374B, MIR374C, MIR384, MIR3915, MIR3937, MIR3978, MIR421, MIR424, MIR4328, MIR4329, MIR4330, MIR448, MIR450A1, MIR450A2, MIR450B, MIR452, MIR4536-1, MIR4536-2, MIR4666B, MIR4767, MIR4768, MIR4769, MIR4770, MIR500A, MIR500B, MIR501, MIR502, MIR503, MIR503HG, MIR504, MIR505, MIR506, MIR507, MIR508, MIR509-1, MIR509-2, MIR509-3, MIR510, MIR513A1, MIR513A2, MIR513B, MIR513C, MIR514A1, MIR514A2, MIR514A3, MIR514B, MIR532, MIR542, MIR545, MIR548AJ2, MIR548AM, MIR548AN, MIR548AX, MIR548F5, MIR548I4, MIR548M, MIR6086, MIR6134, MIR651, MIR652, MIR660, MIR664B, MIR676, MIR6857, MIR6858, MIR6894, MIR6895, MIR718, MIR764, MIR766, MIR767, MIR8088, MIR888, MIR890, MIR891A, MIR891B, MIR892A, MIR892B, MIR892C, MIR92A2, MIR934, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MOSPD2, MPC1L, MPP1, MSL3, MSN, MTCP1, MTM1, MTMR1, MTMR8, MTRNR2L10, MXRA5, NAA10, NALF2, NAP1L2, NAP1L3, NBDY, NCBP2L, NDP, NDUFA1, NDUFB11, NEXMIF, NHS, NHSL2, NKAP, NKRF, NLGN3, NLGN4X, NLRP2B, NONO, NOX1, NR0B1, NRK, NSDHL, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, NYX, OCRL, OFD1, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, 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, PINCR, PIR, PIR-FIGF, PJA1, PLAC1, PLP1, PLP2, PLS3, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PNMA6F, PNPLA4, POF1B, POLA1, PORCN, PORCN-DT, POU3F4, PPEF1, PPP1R2C, PPP1R3F, PPP4R3C, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRPS1, PRPS2, PRR32, PRRG1, PRRG3, PSMD10, PTCHD1, PUDP, PWWP3B, PWWP4, RAB33A, RAB39B, RAB40A, RAB40AL, RAB41, RAB9A, 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, RPL10, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RPS6KA3, RPS6KA6, RRAGB, RS1, RTL3, RTL4, RTL5, RTL8A, RTL8B, RTL8C, RTL9, S100G, SAGE1, SASH3, SAT1, SAT1-DT, SATL1, SCARNA23, SCARNA9L, SCML1, SCML2, SEPTIN6, SERPINA7, SERTM2, SH2D1A, SH3BGRL, SH3KBP1, SHROOM2, SHROOM4, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC35A2, SLC38A5, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLC9A7, SLITRK2, SLITRK4, SMARCA1, SMC1A, SMIM10, SMIM10L2A, SMIM10L2B, SMIM9, SMPX, SMS, SNORA109, SNORA11, SNORA11C, SNORA11D, SNORA11E, SNORA11G, SNORA35, SNORA35B, SNORA36A, SNORA48B, SNORA56, SNORA69, SNORA70, SNORD3E, SNORD61, SNORD96B, SNX12, SOWAHD, SOX3, SPACA5, SPACA5B, SPANXA1, SPANXA2, SPANXA2-OT1, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SPRY3, SRPK3, SRPX, SRPX2, SSR4, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STARD8, STEEP1, STK26, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL4, SYTL5, TAB3, TAF1, TAF7L, TAF9B, TAFAZZIN, TASL, TBC1D25, TBC1D8B, TBL1X, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCEANC, TCP11X1, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX13C, TEX13D, TEX28, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TKTL1, TLR7, TLR8, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMEM47, TMLHE, TMSB15A, TMSB15B, TMSB15C, TMSB4X, TNMD, TRAPPC2, TREX2, TRI-GAT1-1, TRI-GAT1-2, TRI-GAT1-3, TRMT2B, TRO, TRPC5, TRPC5OS, TRV-TAC1-2, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, UBE2A, UBE2NL, UBL4A, UBQLN2, UPF3B, UPRT, USP11, USP26, USP27X, USP27X-DT, USP51, USP9X, UTP14A, UXT, VAMP7, VBP1, VCF2, VCX, VCX2, VCX3A, VCX3B, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WASIR1, WDR13, WDR44, WDR45, WNK3, WWC3, XACT, XAGE-4, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, 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 1
AMELY, FAM197Y1P, FAM197Y9, PCDH11Y, RPS4Y1, SRY, TBL1Y, TGIF2LY, TSPY1, TSPY10, TSPY2, TSPY3, TSPY4, TSPY8, TTTY1, TTTY11, TTTY12, TTTY13B, TTTY16, TTTY18, TTTY19, TTTY1B, TTTY2, TTTY20, TTTY21, TTTY21B, TTTY22, TTTY23B, TTTY2B, TTTY7, TTTY7B, TTTY8, TTTY8B, ZFY 1 1
ARSD, ARSF, ARSH, ARSL, GYG2, MXRA5, PRKX, XG 1 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic total
Cytogenetics, Genetics Associates, Inc. 3 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1
Sheng Clinic, Gansu Aier Optometry Hospital 1 1

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