Kardiomiopátia (205 gén)

ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGL, ALMS1, ALPK3, ANK2, ANKRD1, APOA1, ATAD3A, ATP5E, BAG3, BRAF, CACNA1C, CALR3, CASQ2, CASZ1, CAV3, CAVIN4, CBL, CDH2, CHKB, CHRM2, COA5, COX15, CPT2, CRYAB, CTNNA3, CSRP3, DES, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, ELAC2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA1, EYA2, EYA3, EYA4, FBXL4, FBXO32, FHL1, FHOD3, FKRP, FKTN, FLII, FLNC, FOXD4, FOXRED1, FXN, GAA, GATA4, GATA6, GATAD1, GATC, GBE1, GLA, GLB1, GSK3B, GUSB, GYG1, HAND1, HCN4, HRAS, ILK, JPH2, JUP, KCNQ1, KLF10, KLHL24, KRAS, LAMP2, LDB3, LEMD2, LMNA, LMOD2, LRRC10, LZTR1, MAP2K1, MAP2K2, MIB1, MIPEP, MLYCD, MRPL3, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTO1, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYLK3, MYO6, MYOM1, MYOZ2, MYPN, NDUFAF2, NEXN, NKX2-5, NRAP, NRAS, PCCA, PCCB, PDLIM3, PKP2, PLEKHM2, PLN, PPCS, PRDM16, PRKAG2, PTPN11, QRSL1, RAF1, RBCK1, RBM20, RHBDF1, RIT1, RMND1, RPL3L, RYR2, SCN5A, SCO2, SDHA, SGCD, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLC6A6, SOS1, SPEG, TAB2, TAZ, TBX20, TBX5, TCAP, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRIM63, TSFM, TTN, TTR, VCL, VPS13A

Teljes Exom szekvenálás (WES)

A teljes humán exom, az összes fehérjekódoló gén.

Epilepsziák (837 gén)

AARS1, AARS2, ABAT, ABCA2, ACOX1, ACTL6B, ADAM22, ADAR, ADARB1, ADAT3, ADD1, ADGRG1, ADGRL1, ADGRV1, ADPRS, ADRA2B, ADSL, AFF3, AGMO, AGO1, AIMP1, AIMP2, AKT1, AKT3, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPL, AMPD2, AMT, ANK2, ANKRD11, ANO4, AP1G1, AP2M1, AP3B2, APC2, ARF1, ARF3, ARFGEF1, ARFGEF2, ARG1, ARHGEF9, ARID1B, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASTN1, ASXL3, ATN1, ATP1A1, ATP1A2, ATP1A3, ATP2B1, ATP5F1A, ATP5PO, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP6V0C, ATP6V1A, ATP7A, ATRX, BAP1, BCKDHA, BCKDHB, BCORL1, BCS1L, BET1, BLOC1S1, BLTP1, BOLA3, BORCS8, BRAF, BRAT1, BSCL2, BTD, C12orf57, C2orf69, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA1I, CACNA2D1, CACNA2D2, CACNB4, CAD, CAMK2D, CAMK2G, CAMLG, CAMSAP1, CAPRIN1, CARS2, CASK, CASR, CBL, CC2D2A, CCDC186, CCDC88A, CCDC88C, CCND2, CDC42BPB, CDK19, CDKL5, CELF2, CEP85L, CERS1, CERT1, CHD2, CHD4, CHD5, CHKA, CHMP3, CHRM1, CHRNA2, CHRNA4, CHRNB2, CIC, CLCN2, CLCN3, CLCN4, CLCN6, CLDN5, CLN3, CLN5, CLN6, CLN8, CLPB, CLTC, CNKSR2, CNNM2, CNOT9, CNPY3, CNTN2, CNTNAP2, COG3, COG4, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COLGALT1, COQ2, COQ4, COQ6, COQ9, COX10, COX11, COX15, CPA6, CPLX1, CPSF3, CREBBP, CRELD1, CRH, CRPPA, CTNNA2, CTSD, CTSF, CTU2, CUL3, CUL4B, CUX1, CUX2, CYFIP2, CYP27A1, CSNK1G1, CSNK2A1, CSNK2B, CSTB, D2HGDH, DALRD3, DBT, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DENND5B, DEPDC5, DHCR24, DHCR7, DHDDS, DHPS, DHX16, DHX30, DIAPH1, DLL1, DMBX1, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DOCK7, DOLK, DPAGT1, DPH5, DPM1, DPM2, DPYD, DROSHA, DTYMK, DYNC1H1, DYRK1A, EARS2, EEF1A2, EFHC1, EFTUD2, EHMT1, EIF2A, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A2, EMC10, EML1, EMX2, ENTPD1, EPG5, EPM2A, ESAM, ETHE1, EXOC7, EXOSC3, EXT2, FAM50A, FAR1, FARS2, FASTKD2, FBXL4, FBXO11, FBXO28, FCSK, FDFT1, FGF12, FGF13, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXRED1, FRMD5, FRRS1L, FTL, FUCA1, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GAL, GALC, GALNT2, GAMT, GATAD2B, GATM, GBA, GCH1, GCSH, GFAP, GFM1, GLB1, GLDC, GLI3, GLRA1, GLRA2, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GNAO1, GNAQ, GNB1, GNB2, GNB5, GOSR2, GOT2, GPAA1, GPHN, GRIA2, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM7, GRN, GSS, GTPBP2, GTPBP3, GUF1, H3-3A, H3-3B, HACE1, HAX1, HCFC1, HCN1, HCN2, HCCS, HEATR5B, HECTD4, HECW2, HEPACAM, HERC2, HEXA, HEXB, HID1, HLCS, HMGCL, HNRNPH2, HNRNPR, HNRNPU, HOXA1, HPDL, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA2, IDH2, IER3IP1, IFIH1, IKBKG, INO80, IQSEC2, IRF2BPL, ITPA, JAKMIP1, KARS1, KAT5, KAT8, KATNB1, KCNA1, KCNA2, KCNA3, KCNB1, KCNB2, KCNC1, KCNC2, KCND2, KCNH1, KCNH5, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM6B, KIF1A, KIF2A, KIF5C, KIFBP, KLHL20, KMT2E, KMT5B, KPTN, KRAS, LARGE1, LARS1, LETM1, LGI1, LIAS, LIPT1, LIPT2, LMAN2L, LMBRD2, LMNB1, LMNB2, LNPK, LSS, LYST, MACF1, MADD, MAF, MAGI2, MANBA, MAP2K1, MAP2K2, MAPK10, MAST1, MAST3, MAST4, MATN4, MBD5, MBOAT7, MCM3AP, MDH2, MECP2, MED11, MED12, MED17, MED27, MEF2C, MFF, MFSD8, MINPP1, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MT-CO3, MT-TL1, MTHFR, MTHFS, MTOR, MTR, MYO1H, NACC1, NAGA, NAPB, NARS1, NARS2, NBEA, NCDN, NDE1, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEUROD2, NEXMIF, NGLY1, NHLRC1, NID1, NPRL2, NPRL3, NR4A2, NRAS, NRROS, NRXN1, NSD1, NSDHL, NSF, NSRP1, NTRK2, NUBPL, NUP214, NUS1, OCLN, OGDHL, OPHN1, OTUD6B, OTUD7A, OTX2, OXR1, P4HTM, PABPC1, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PARP6, PARS2, PCCA, PCCB, PCDH12, PCDH19, PCDHB4, PCDHGC4, PCLO, PCYT2, PDHA1, PDHX, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX19, PEX2, PEX3, PEX5, PEX6, PEX7, PGM2L1, PHACTR1, PHGDH, PIDD1, PIGA, PIGB, PIGC, PIGG, PIGH, PIGK, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGW, PIK3CA, PIK3R2, PIP5K1C, PLA2G6, PLAA, PLCB1, PLK1, PLPBP, PLXNA1, PMM2, PMPCB, PNKP, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMT1, POMT2, PPFIBP1, PPIL1, PPP1R3F, PPP2CA, PPP3CA, PPT1, PRDM8, PRICKLE1, PRICKLE2, PRMT7, PRODH, PRPF8, PRRT2, PSAP, PSAT1, PSMB8, PSPH, PTCD3, PTCH1, PTEN, PTF1A, PTPN23, PTS, PUM1, PURA, QARS1, QDPR, RAB11A, RAB11B, RAB18, RAB3GAP1, RAB3GAP2, RAB5C, RAC3, RALA, RALGAPA1, RALGAPB, RANBP2, RARS1, RARS2, RELN, RFT1, RHEB, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF13, RNF2, RNU2-2P, RNU4-2, RNU4ATAC, ROGDI, RORA, RORB, RPIA, RRM2B, RTN4IP1, RTTN, RUBCN, RUSC2, RYR2, RYR3, SAMD12, SAMHD1, SARS1, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN8A, SCN9A, SCO1, SCO2, SDHA, SEC24D, SEC31A, SEMA6B, SEPSECS, SERPINI1, SETBP1, SETD1A, SETD1B, SETD5, SGSH, SHH, SHQ1, SIK1, SIX3, SLC12A5, SLC13A5, SLC16A2, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A19, SLC25A22, SLC2A1, SLC31A1, SLC32A1, SLC35A1, SLC35A2, SLC35A3, SLC38A3, SLC39A8, SLC45A1, SLC5A6, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC7A6OS, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMS, SNAP25, SNF8, SNIP1, SNORD118, SNX27, SPATA5, SPATA5L1, SPR, SPTAN1, SPTBN1, SPTBN4, SRPX2, ST3GAL3, ST3GAL5, STAG1, STAMBP, STARD7, STIL, STRADA, STX1B, STXBP1, SUCLA2, SUCLG1, SUOX, SURF1, SYN1, SYNCRIP, SYNGAP1, SYNJ1, SZT2, TAF8, TANC2, TANGO2, TBC1D20, TBC1D24, TBC1D2B, TBCD, TBCK, TBL1XR1, TCF4, TDP2, TEFM, TELO2, TET3, TFE3, TGIF1, TIAM1, TIMM50, TMEM106B, TMEM222, TMEM63B, TMEM70, TMX2, TNK2, TNPO2, TPP1, TRA2B, TRAF7, TRAK1, TRAPPC12, TRAPPC4, TRAPPC6B, TREX1, TRIM8, TRIP13, TRIT1, TRPM3, TRPM6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TUBA1A, TUBA3E, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TXN2, TXNRD1, U2AF2, UBA5, UBAP2L, UBE2A, UBE3A, UBR7, UFC1, UFM1, UFSP2, UGDH, UGP2, UNC13B, UNC80, USP18, USP7, VAMP2, VARS1, VLDLR, VPS11, VPS50, WARS2, WASF1, WDR37, WDR45, WDR45B, WDR62, WDR73, WNK3, WWOX, XK, YIF1B, YIPF5, YWHAG, ZBTB18, ZBTB47, ZDHHC9, ZEB2, ZIC2, ZMIZ1, ZMYM2, ZNF142, ZNF335, ZNFX1