Test 60.
Neuromuscular diseases
Mutations in 496 neuromuscular disease genes
AAAS, AARS, AARS2, ABCA1, ABCC9, ABHD5, ACACA, ACAD9, ACADM, ACADS, ACADVL, ACTA1, ACTN2, ADCK3, ADCY5, ADSSL1, AGK, AGL, AGRN, AGPAT2, AHCY, AIFM1, AIMP1, AIP, ALDH3A2, ALDOA, ALG14, ALG2, ALPL, ALS2, AMPD1, ANG, ANO5, APOO, AR, ASAH1, ASCC1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BCS1L, BICD2, BIN1, BOLA3, BRAF, BSCL2, BVES, C12ORF65, C19ORF12, C1QBP, C9orf72, CACNA1C, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHMP2B, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CLN3, CNBP, CNTN1, COA8, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ4, COQ9, COX10, COX15, COX20, COX6A1, COX6B1, COX8A, CPT1C, CPT2, CRPPA, CRYAB, CTDP1, CTNS, DAG1, DARS2, DCAF8, DCTN1, DES, DGUOK, DHTKD1, DLD, DMD, DMPK, DNA2, DNAJB2, DNAJB6, DNAJC19, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DST, DYNC1H1, DYSF, EARS2, ECEL1, EMD, ENO3, EPG5, ERBB3, ERBB4, ETFA, ETFB, ETFDH, EXOSC3, EXOSC8, FHL1, FKBP14, FKRP, FKTN, FLNC, FXR1, GAA, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HNRNPDL, HSPB1, HSPB8, IGHMBP2, INPP5K, ISCU, ISPD, ITGA7, KBTBD13, KLHL40, KLHL41, LAMA2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAP3K20, MARS, MATR3, MED25, MEGF10, MICU1, MME, MPV17, MPZ, MSTN, MSTO1, MTAP, MTM1, MTMR2, MUSK, MYBPC1, MYBPC3, MYF6, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NEB, ORAI1, PAX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PIEZO2, PLEC, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, PYROXD1, RAPSN, RBCK1, RRM2B, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC18A3, SLC22A5, SLC25A1, SLC25A4, SLC52A2, SLC52A3, SLC5A7, SMN1, SPEG, SPG11, SQSTM1, STAC3, STIM1, SUCLA2, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TMEM5, TNNI2, TNNT1, TNNT3, TNPO3, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRPV4, TSEN54, TSFM, TTN, TYMP, UBA1, VAMP1, VCP, VMA21, VRK1, ASCC3, COL4A1, DHX16, FDX2, GFER, GGPS1, GOLGA2, HACD1, HNRNPA2B1, JAG2, KY, LRIF1, MTMR14, MYF5, MYOD1, NEFL, POGLUT1, POPDC3, PPA2, REEP1, SETX, SLC25A42, SMCHD1, SVIL, TANGO2, TNNC2, TOR1AIP1, TRDN, UNC45B, VAPB, BET1, CACNA1A, COL4A2, COL9A3, CPT1B, CYP2C8, DUX4, FAM111B, FBP2, FBXO38, GARS, GOSR2, HNRNPA1, HRAS, HSPB3, HTRA2, KLHL9, LAMA5, LAMB2, LGI4, LIMS2, MEG3, OBSCN, PABPN1, PHKG1, PLEKHG5, PNPLA2, PREPL, PUS1, SIGMAR1, SLC22A12, SLC2A9, SLC52A1, SNAP25, SNRPN, SPTBN4, SRPK3, STIM2, SYT15, TMEM43, UBQLN1, UNC13A, VPS33B, YARS2, ZC4H2, FAM126A, FAM134B, FASTKD2, FBLN5, FBN1, FBXL4, FDX1L, FGD4, FIG4, FKBP10, FLAD1, FNIP1, FOXRED1, FUS, GAN, GATM, GBF1, GDAP1, GFM1, GJB1, GLE1, GNB4, HARS, HEXA, HEXB, HINT1, HK1, HMGCR, HSD17B4, HSPG2, IBA57, IDUA, IFIH1, INF2, KARS, KIF1A, KIF1B, KIF5A, L1CAM, LAS1L, LIPE, LITAF, LRSAM1, LYRM7, MET, MFF, MFN2, MGME1, NAGA, NALCN, NARS2, NDRG1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NEFH, NEU1, NSUN2, NUBPL, OPA1, OPTN, PDK3, PET100, PEX5, PEX7, PFN1, PHYH, PIGY, PIP5K1C, PLA2G6, PLP1, PMM2, PMP22, PNKP, PNPLA6, PNPLA8, PNPT1, PPP1R21, PRPS1, PRX, PTPLA, RAB7A, RALGAPA1, RMND1, RNASEH1, SACS, SBF1, SBF2, SCN11A, SDHA, SDHAF1, SEPN1, SEPT9, SH3TC2, SLC12A1, SLC12A3, SLC12A6, SLC25A20, SLC33A1, SLC39A13, SMN2, SMPX, SOX10, SPART, SPAST, SPG7, SPTLC1, SUCLG1, SURF1, TACO1, TAZ, TBCD, TBCE, TBCK, TBK1, TFG, TGFB1, TIMM22, TMEM8C, TNXB, TPI1, TRIM2, TRIM54, TRIM63, TRMT5, TTC19, TUBB3, TUFM, TWNK, VARS2, WARS, XK, YARS, ZAK, ZBTB20, ZFYVE26