ClinVar Miner

Variants studied for Turner syndrome

Coded as:
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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
7 0 0 0 0 7

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic total
​intergenic 1 1
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, CXorf22, CXorf30, 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, FAM104B, 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, LOC100509091, 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, VCX, VCX2, VCX3A, VCX3B, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WASIR1, 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 1 1
ABCB7, ABCD1, ACSL4, ACTRT1, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, ALG13, AMER1, AMMECR1, AMOT, APLN, APOOL, AR, ARHGAP36, ARHGAP4, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ASB12, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, AWAT1, AWAT2, BCAP31, BCORL1, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BRCC3, BRS3, BRWD3, BTK, C1GALT1C1, CAPN6, CCDC160, CCNQ, CD40LG, CD99L2, CDR1, CDX4, CENPI, CETN2, CHIC1, CHM, CHRDL1, CITED1, CLDN2, CLIC2, CMC4, CNGA2, 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, CUL4B, CXCR3, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf65, CXorf66, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCX, DGAT2L6, DIAPH2, DKC1, DLG3, DMRTC1, DMRTC1B, DNAAF6, DNASE1L1, DOCK11, DRP2, DUSP9, EDA, EDA2R, EFNB1, ELF4, EMD, ENOX2, EOLA1, EOLA2, ERCC6L, ESX1, F8, F8A1, F8A2, F8A3, F9, FAM133A, FAM199X, FAM3A, FAM50A, FATE1, FGF13, FGF16, FHL1, FLNA, FMR1, FMR1NB, FOXO4, FRMD7, FRMPD3, FTX, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GCNA, GDI1, GDPD2, GJB1, GLA, GLUD2, GPC3, GPC4, GPR101, GPR119, GPR174, GPR50, GPRASP1, GPRASP2, GPRASP3, GRIA3, GUCY2F, H2AB1, H2AB2, H2AB3, H2BW1, H2BW2, HAUS7, HCFC1, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSFX1, HSFX2, HTATSF1, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IKBKG, IL13RA1, IL13RA2, IL1RAPL2, IL2RG, INTS6L, IRAK1, IRS4, ITGB1BP2, ITM2A, JPX, KCNE5, KIAA1210, KIF4A, KLHL13, KLHL4, L1CAM, LAGE3, LAMP2, LAS1L, LDOC1, LHFPL1, LOC100509091, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEC1, MAGEC2, MAGEC3, MAGEE1, MAGEE2, MAGT1, MAMLD1, MAP7D3, MBNL3, MCF2, MCTS1, MECP2, MED12, MID2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR223, MIR224, MIR424, MIR448, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MMGT1, MORC4, MORF4L2, MOSPD1, MPP1, MSN, MTCP1, MTM1, MTMR1, MTMR8, NAA10, NALF2, NAP1L2, NAP1L3, NDUFA1, NEXMIF, NHSL2, NKAP, NKRF, NLGN3, NONO, NOX1, NRK, NSDHL, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, OCRL, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAK3, PASD1, PBDC1, PCDH11X, PCDH19, PDZD11, PDZD4, PGAM4, PGK1, PGRMC1, PHF6, PHKA1, PIN4, PJA1, PLAC1, PLP1, PLS3, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, POF1B, POU3F4, PRPS1, PRR32, PRRG3, PSMD10, PWWP3B, RAB33A, RAB39B, RAB40A, RAB40AL, RAB41, RAB9B, RADX, RAP2C, RBM41, RBMX, RBMX2, RBMXL3, RENBP, RHOXF1, RHOXF2, RHOXF2B, RIPPLY1, RLIM, RNF113A, RNF128, RPA4, RPL10, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RPS6KA6, RTL3, RTL4, RTL5, RTL8A, RTL8B, RTL8C, RTL9, SAGE1, SASH3, SATL1, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLITRK2, SLITRK4, SMARCA1, SMIM10, SMIM9, SNX12, SOWAHD, SOX3, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SRPK3, SRPX2, SSR4, STAG2, STARD8, STEEP1, STK26, SYTL4, TAF1, TAF7L, TAF9B, TAFAZZIN, TBC1D8B, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TGIF2LX, THOC2, TIMM8A, TKTL1, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMLHE, TMSB15A, TMSB15B, TNMD, TREX2, TRMT2B, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, UBE2A, UBE2NL, UBL4A, UPF3B, UPRT, USP26, UTP14A, VBP1, VGLL1, VMA21, VSIG1, VSIG4, WDR44, XIAP, XIST, XKRX, XPNPEP2, YIPF6, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZFP92, ZIC3, ZMAT1, ZMYM3, ZNF185, ZNF275, ZNF280C, ZNF449, ZNF711, ZNF75D 1 1
ACE2, ACOT9, ADGRG2, AKAP4, ALAS2, AMELX, ANOS1, AP1S2, APEX2, APOO, ARAF, ARHGAP6, ARSD, ARSF, ARSH, ARSL, ARX, ASB11, ASB9, ATP6AP2, ATXN3L, BCLAF3, BCOR, BEND2, BMP15, BMX, CA5B, CACNA1F, CASK, CBLL2, CCDC120, CCDC22, CCNB3, CDK16, CDKL5, CFAP47, CFP, CHST7, CLCN4, CLCN5, CLTRN, CNKSR2, CTPS2, CXorf22, CXorf30, CXorf38, CXorf58, CYBB, DCAF8L1, DCAF8L2, DDX3X, DDX53, DGKK, DIPK2B, DMD, DUSP21, DYNLT3, EBP, EFHC2, EGFL6, EIF1AX, EIF2S3, ELK1, ERAS, FAAH2, FAM104B, FAM120C, FAM156A, FAM156B, FAM47A, FAM47B, FAM47C, FAM9A, FAM9B, FAM9C, FANCB, FGD1, FOXP3, FOXR2, FRMPD4, FTHL17, FTSJ1, FUNDC1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GEMIN8, GK, GLOD5, GLRA2, GNL3L, GPKOW, GPM6B, GPR143, GPR173, GPR34, GPR82, GRIPAP1, GRPR, GSPT2, GYG2, H2AP, HCCS, HDAC6, HSD17B10, HUWE1, IL1RAPL1, INE1, INE2, IQSEC2, ITIH6, JADE3, KCND1, KDM5C, KDM6A, KLF8, KLHL15, KLHL34, KRBOX4, LANCL3, LINC01560, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEH1, MAGIX, MAOA, MAOB, MAP3K15, MAP7D2, MBTPS2, MED14, MID1, MID1IP1, MIR221, MIR222, MIR502, MIR532, MIR98, MIRLET7F2, MOSPD2, MPC1L, MSL3, MTRNR2L10, MXRA5, NDP, NDUFB11, NHS, NLGN4X, NR0B1, NUDT10, NUDT11, NYX, OFD1, OTC, OTUD5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PCSK1N, PCYT1B, PDHA1, PDK3, PFKFB1, PHEX, PHF8, PHKA2, PIGA, PIM2, PIR, PLP2, PNPLA4, POLA1, PORCN, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRPS2, PRRG1, PTCHD1, PUDP, RAB9A, RAI2, RBBP7, RBM10, RBM3, REPS2, RGN, RIBC1, RP2, RPGR, RPS6KA3, RRAGB, RS1, S100G, SAT1, SCML1, SCML2, SH3KBP1, SHROOM2, SHROOM4, SLC35A2, SLC38A5, SLC9A7, SMC1A, SMPX, SMS, SNORA11, SPACA5, SPACA5B, SPANXN5, SPIN2A, SPIN2B, SPIN3, SRPX, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL5, TAB3, TASL, TBC1D25, TBL1X, TCEANC, TFE3, TIMM17B, TIMP1, TLR7, TLR8, TMEM47, TMSB4X, TRAPPC2, TRO, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, UBQLN2, USP11, USP27X, USP51, USP9X, UXT, VCX, VCX2, VCX3A, VCX3B, VEGFD, WAS, WDR13, WDR45, WNK3, WWC3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XK, YY2, ZFX, ZNF157, ZNF182, ZNF41, ZNF630, ZNF674, ZNF81, ZRSR2, ZXDB 1 1
ACE2, ACOT9, ADGRG2, AKAP4, ALAS2, AMELX, ANOS1, AP1S2, APEX2, APOO, ARAF, ARHGAP6, ARSD, ARSF, ARSH, ARSL, ARX, ASB11, ASB9, ATP6AP2, ATXN3L, BCLAF3, BCOR, BEND2, BMP15, BMX, CA5B, CACNA1F, CASK, CBLL2, CCDC120, CCDC22, CCNB3, CDK16, CDKL5, CFAP47, CFP, CHST7, CLCN4, CLCN5, CLTRN, CNKSR2, CTPS2, CXorf22, CXorf30, CXorf38, CXorf58, CYBB, DCAF8L1, DCAF8L2, DDX3X, DDX53, DGKK, DIPK2B, DMD, DUSP21, DYNLT3, EBP, EFHC2, EGFL6, EIF1AX, EIF2S3, ELK1, ERAS, FAM104B, FAM120C, FAM156A, FAM156B, FAM47A, FAM47B, FAM47C, FAM9A, FAM9B, FAM9C, FANCB, FGD1, FOXP3, FOXR2, FRMPD4, FTHL17, FTSJ1, FUNDC1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GEMIN8, GK, GLOD5, GLRA2, GNL3L, GPKOW, GPM6B, GPR143, GPR173, GPR34, GPR82, GRIPAP1, GRPR, GSPT2, GYG2, H2AP, HCCS, HDAC6, HSD17B10, HUWE1, IL1RAPL1, INE1, INE2, IQSEC2, ITIH6, JADE3, KCND1, KDM5C, KDM6A, KLF8, KLHL15, KLHL34, KRBOX4, LANCL3, LINC01560, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEH1, MAGIX, MAOA, MAOB, MAP3K15, MAP7D2, MBTPS2, MED14, MID1, MID1IP1, MIR221, MIR222, MIR502, MIR532, MIR98, MIRLET7F2, MOSPD2, MPC1L, MSL3, MTRNR2L10, MXRA5, NDP, NDUFB11, NHS, NLGN4X, NR0B1, NUDT10, NUDT11, NYX, OFD1, OTC, OTUD5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PCSK1N, PCYT1B, PDHA1, PDK3, PFKFB1, PHEX, PHF8, PHKA2, PIGA, PIM2, PIR, PLP2, PNPLA4, POLA1, PORCN, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRPS2, PRRG1, PTCHD1, PUDP, RAB9A, RAI2, RBBP7, RBM10, RBM3, REPS2, RGN, RIBC1, RP2, RPGR, RPS6KA3, RRAGB, RS1, S100G, SAT1, SCML1, SCML2, SH3KBP1, SHROOM2, SHROOM4, SLC35A2, SLC38A5, SLC9A7, SMC1A, SMPX, SMS, SNORA11, SPACA5, SPACA5B, SPANXN5, SRPX, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL5, TAB3, TASL, TBC1D25, TBL1X, TCEANC, TFE3, TIMM17B, TIMP1, TLR7, TLR8, TMEM47, TMSB4X, TRAPPC2, TRO, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, USP11, USP27X, USP51, USP9X, UXT, VCX, VCX2, VCX3A, VCX3B, VEGFD, WAS, WDR13, WDR45, WNK3, WWC3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XK, YY2, ZFX, ZNF157, ZNF182, ZNF41, ZNF630, ZNF674, ZNF81, ZRSR2 1 1
ACE2, ACOT9, ADGRG2, AKAP4, AMELX, ANOS1, AP1S2, APOO, ARAF, ARHGAP6, ARSD, ARSF, ARSH, ARSL, ARX, ASB11, ASB9, ATP6AP2, ATXN3L, BCLAF3, BCOR, BEND2, BMP15, BMX, CA5B, CACNA1F, CASK, CBLL2, CCDC120, CCDC22, CCNB3, CDK16, CDKL5, CFAP47, CFP, CHST7, CLCN4, CLCN5, CLTRN, CNKSR2, CTPS2, CXorf22, CXorf30, CXorf38, CXorf58, CYBB, DCAF8L1, DCAF8L2, DDX3X, DDX53, DGKK, DIPK2B, DMD, DUSP21, DYNLT3, EBP, EFHC2, EGFL6, EIF1AX, EIF2S3, ELK1, ERAS, FAM47A, FAM47B, FAM47C, FAM9A, FAM9B, FAM9C, FANCB, FOXP3, FRMPD4, FTHL17, FTSJ1, FUNDC1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GEMIN8, GK, GLOD5, GLRA2, GPKOW, GPM6B, GPR143, GPR34, GPR82, GRIPAP1, GRPR, GSPT2, GYG2, H2AP, HCCS, HDAC6, IL1RAPL1, INE1, INE2, JADE3, KCND1, KDM6A, KLHL15, KLHL34, KRBOX4, LANCL3, LINC01560, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGED1, MAGED4, MAGED4B, MAGIX, MAOA, MAOB, MAP3K15, MAP7D2, MBTPS2, MED14, MID1, MID1IP1, MIR221, MIR222, MIR502, MIR532, MOSPD2, MPC1L, MSL3, MXRA5, NDP, NDUFB11, NHS, NLGN4X, NR0B1, NUDT10, NUDT11, NYX, OFD1, OTC, OTUD5, PAGE1, PAGE4, PCSK1N, PCYT1B, PDHA1, PDK3, PHEX, PHKA2, PIGA, PIM2, PIR, PLP2, PNPLA4, POLA1, PORCN, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRPS2, PRRG1, PTCHD1, PUDP, RAB9A, RAI2, RBBP7, RBM10, RBM3, REPS2, RGN, RP2, RPGR, RPS6KA3, RS1, S100G, SAT1, SCML1, SCML2, SH3KBP1, SHROOM2, SHROOM4, SLC35A2, SLC38A5, SLC9A7, SMPX, SMS, SPACA5, SPACA5B, SRPX, SSX1, SSX3, SSX4, SSX4B, SSX5, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL5, TAB3, TASL, TBC1D25, TBL1X, TCEANC, TFE3, TIMM17B, TIMP1, TLR7, TLR8, TMEM47, TMSB4X, TRAPPC2, TSPAN7, TXLNG, UBA1, USP11, USP27X, USP9X, UXT, VCX, VCX2, VCX3A, VCX3B, VEGFD, WAS, WDR13, WDR45, WWC3, XAGE1A, XAGE1B, XAGE2, XG, XK, YY2, ZFX, ZNF157, ZNF182, ZNF41, ZNF630, ZNF674, ZNF81, ZRSR2 1 1
PTCH1 1 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic total
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 5 5
Centogene AG - the Rare Disease Company 1 1
DBGen Ocular Genomics 1 1

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