GC_29 Muscular dystrophy and limb girdle
Last update: 19.01.2026
ACTA1, ADSS1, ANO5, B3GALNT2, B4GAT1, BET1, BICD2, BVES, CACNA1B, CAPN3, CAV3, CAVIN1, CHKB, CIAO1, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DNMT3B, DOLK, DPM1, DPM2, DPM3, DTNA, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GGPS1, GMPPB, GNE, GOLGA2, GOSR2, HMGCR, HNRNPA2B1, HNRNPDL, INPP5K, ITGA7, JAG2, KBTBD13, LAMA2, LARGE1, LIMS2, LMNA, LRIF1, MAP3K20, MEGF10, MICU1, MSTO1, MYH7, MYO18B, MYOT, PLEC, PNPLA2, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PYROXD1, RXYLT1, RYR1, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SMCHD1, SPEG, SPTBN4, SUN1, SUN2, SYNE1, SYNE2, TCAP, TK2, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN, VMA21
ClinVar P/LP variants (IDs) not covered: DMD:[3235708]; [4292852]; [4277362]; [2637520] | GNE:[4068787] | MEGF10:[3767213] | SGCB:[4277883] | TK2:[3778875]
GC_44 Congenital myopathy
Last update: 18.01.2026
ACTA1, ACTN2, ADSS1, ASCC1, ASCC3, BIN1, CACNA1S, CCDC78, CFL2, CIAO1, CNTN1, COL12A1, COL13A1, COL25A1, COL6A1, COL6A2, COL6A3, COX6A2, DHX16, DNAJB4, DNM2, DOK7, DST, ECEL1, EPG5, FILIP1, FKBP14, FLNC, FXR1, GBE1, GFER, HACD1, HNRNPA2B1, KBTBD13, KLHL40, KLHL41, KY, LAMA2, LAMP2, LETM1, LMNA, LMOD3, MAP3K20, MEGF10, MICU1, MLIP, MT-TA, MT-TG, MT-TP, MTM1, MTMR14, MYBPC1, MYBPC3, MYF5, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYMX, MYO18B, MYOD1, MYPN, NEB, NEFL, ORAI1, PAX7, PIEZO2, PPA2, PYROXD1, RFC4, RYR1, RYR3, SCN4A, SELENON, SLC25A4, SLC25A42, SPEG, SPTBN4, SRPK3, STAC3, STIM1, SVIL, TK2, TNNC2, TNNI1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRDN, TRIP4, TTN, UNC45B, VMA21, VWA1, ZC4H2
ClinVar P/LP variants (IDs) not covered: MEGF10:[3767213] | MYBPC3:[3906261]; [3376667] | TK2:[3778875]
GC_47 Arthrogryposis
Last update: 18.01.2026
ACTA1, ACTC1, ADAMTS10, ADAMTS15, ADCY6, ADGRG6, AGRN, ALG3, ANTXR2, ASCC1, ASXL1, ATAD1, ATP1A2, B3GALNT2, B4GAT1, BICD2, BIN1, CACNA1E, CASK, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHUK, CIAO1, CNTN1, CNTNAP1, COASY, COL12A1, COL25A1, COL6A1, COL6A2, COL6A3, COLQ, CRLF1, CRPPA, DAG1, DHCR24, DNM2, DOK7, DPAGT1, DPM2, DST, DYNC1H1, EBP, ECEL1, EGR2, ERBB3, ERCC1, ERCC5, ERCC6, ERCC8, ERGIC1, EXOSC3, FAM20C, FBN2, FGFR2, FGFR3, FHL1, FILIP1, FKBP10, FKRP, FKTN, FLNA, FLNB, FLNC, FLVCR2, GBA, GBE1, GFPT1, GLDN, GLE1, GMPPB, HSPG2, IRF6, KAT6B, KCNK3, KIAA1109, KIDINS220, KIF21A, KLHL40, KLHL41, KLHL7, LAMA2, LARGE1, LGI3, LGI4, LMNA, LMOD3, LMX1B, MAGEL2, MED12, MET, MPZ, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH8, MYL11, MYMK, MYOD1, NALCN, NEB, NEK9, NUP88, ORAI1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PIEZO2, PIP5K1C, PLOD1, PLOD2, PMM2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PPP3CA, PRG4, RAPSN, RARS2, RIPK4, RXYLT1, RYR1, SCARF2, SCN1A, SCN4A, SCO2, SCYL2, SELENON, SKI, SLC18A3, SLC29A3, SLC35A3, SLC5A7, SLC6A9, SMAD3, SMAD4, SMN1, SMN2, SMPD4, STAC3, STIM1, SVIL, SYNE1, TGFB2, TGFB3, TGFBR1, TGFBR2, TK2, TNNI2, TNNT1, TNNT3, TOR1A, TOR1AIP1, TPM2, TPM3, TRIP4, TRPV4, TSEN2, TSEN54, TTN, UBA1, UNC50, VAMP1, VIPAS39, VPS33B, VRK1, ZBTB42, ZC4H2, ZMPSTE24
ClinVar P/LP variants (IDs) not covered: LMX1B:[4292043] | PEX14:[3663959] | SCN1A:[4538527] | SMAD4:[3445838] | SMN1:[3906142] | TK2:[3778875]
GC_53 Hereditary neuropathy
Last update: 16.01.2025
AAAS, AARS1, ABCA1, ABCD1, ABHD12, ACOX1, ADA2, ADCY6, ADGRG6, ADPRS, AFG3L2, AGTPBP1, AGXT, AIFM1, ALDH18A1, AMACR, AMPD2, AP1S1, AP5Z1, APOA1, APTX, ARHGAP19, ARHGEF10, ARL6IP1, ARSA, ASAH1, ATAD3A, ATL1, ATL3, ATM, ATP13A2, ATP1A1, ATP7A, ATP7B, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, C12ORF65, CADM3, CAPN1, CCT5, CD59, CFAP276, CHCHD10, CLP1, CNTNAP1, COA7, COQ7, COX10, COX18, COX20, COX6A1, CPOX, CTDP1, CYP27A1, CYP2U1, CYP7B1, DARS2, DCAF8, DCTN1, DEGS1, DGUOK, DHH, DHTKD1, DHX9, DMXL2, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DSTYK, DYNC1H1, EGR2, ELP1, EMILIN1, ERCC6, ERCC8, ETFDH, EXOSC3, EXOSC9, FA2H, FAH, FAM126A, FBLN5, FBXO38, FDXR, FGD4, FICD, FIG4, FLVCR1, FXN, GALC, GAN, GARS1, GBA2, GBF1, GDAP1, GJB1, GJC2, GLA, GNB4, GNE, GSN, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HMBS, HPDL, HSPB1, HSPB3, HSPB8, IARS2, IGHMBP2, INF2, ITPR3, JAG1, KARS1, KCNA2, KIF1A, KIF1B, KIF21A, KIF5A, LAS1L, LDB3, LITAF, LMNA, LRP12, LRSAM1, LYST, MAG, MAPK8IP3, MARS1, MCM3AP, MED25, MFF, MFN2, MICAL1, MMACHC, MME, MORC2, MPV17, MPZ, 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, MTMR2, MTRFR, MTTP, MYH14, MYOT, NAGA, NARS1, NDC1, NDRG1, NDUFS6, NEFH, NEFL, NEMF, NFASC, NGF, NTRK1, NUDT2, OPA1, OPA3, PDHA1, PDK3, PDXK, PDYN, PEX10, PEX7, PHYH, PIEZO2, PIGB, PIGG, PLA2G6, PLAAT3, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, PNPT1, POLG, POLG2, POLR3A, POLR3B, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PSMC3, PTPN11, PTRH2, RAB7A, RCC1, REEP1, RETREG1, RTN2, SACS, SAMD9L, SARS1, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A21, SLC25A46, SLC52A1, SLC52A2, SLC52A3, SLC5A6, SLC5A7, SMAD3, SMN1, SMN2, SORD, SOX10, SPAST, SPG11, SPG7, SPTAN1, SPTBN4, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TBCE, TDP1, TECPR2, TFG, TRIM2, TRMT5, TRPA1, TRPV4, TTC19, TTPA, TTR, TUBB3, TWNK, TYMP, UBA1, UCHL1, UQCRC1, VAPB, VCP, VPS13A, VPS13D, VRK1, VWA1, WARS1, WNK1, XK, XPA, XPNPEP3, XRCC1, YARS1, ZFHX2, ZFYVE26
ClinVar P/LP variants (IDs) not covered: ATM: [4169743]; [3802353]; [3325980]; [2121591]; [3802702] | GLA: [1678527] | GNE: [4068787] | HADHB: [3359235] | LYST: [3602577] | MME: [3769636] | SMN1: [3906142]
GC_63 Congenital myaesthenic syndrome
Last update: 07.01.2026
AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CIAO1, COL13A1, COLQ, DOK7, DPAGT1, FLAD1, GFPT1, GMPPB, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, RAPSN, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, STIM1, SYT2, TOR1AIP1, UNC13A, VAMP1
GC_68 Dystonia
Last update: 07.01.2026
ACTB, ADAR, ADCY5, AFG3L2, ANO3, AOPEP, APTX, ARX, ATM, ATP13A2, ATP1A2, ATP1A3, ATP5MC3, ATP7B, BCAP31, C19orf12, CACNA1B, CACNA1G, CAMK4, CHMP2B, CIZ1, COASY, COL6A3, CP, CSTB, CYP27A1, DCAF17, DDC, DLAT, DNAJC12, DRD2, ECHS1, EIF2AK2, FA2H, FASTKD2, FBXO7, FITM2, FOXG1, FTH1, FTL, GAMT, GCDH, GCH1, GNAL, GNAO1, HEXA, HPCA, HPRT1, HTRA2, IRF2BPL, KCNMA1, KCTD17, KMT2B, MECR, MED20, MIPEP, 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, NDUFA12, NKX2-1, NKX6-2, NR4A2, NUP54, OPTN, PANK2, PDE10A, PDE2A, PDGFB, PDGFRB, PDHA1, PDHX, PINK1, PLA2G6, PNKD, PRKN, PRKRA, PRRT2, PTS, SERAC1, SGCE, SLC18A2, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SPATA5L1, SPR, SYNJ1, TAF1, TH, THAP1, TMEM151A, TOR1A, TOR1AIP1, TSPOAP1, TUBB4A, UBTF, VAC14, VPS11, VPS13A, VPS13D, VPS16, WARS2,
WDR45, WDR73, XK, XPR1, YY1
ClinVar P/LP variants (IDs) not covered: ATM: [4169743]; [3802353]; [3325980]
GC_71 Comprehensive myopathies
Last update: 07.01.2026
ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACTA1, ACTN2, ADSS1, AGL, AHCY, ALDOA, AMPD1, ANO5, ASCC1, ASCC3, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C10ORF2, CACNA1S, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHKB, CIAO1, CLCN1, CNTN1, COL12A1, COL13A1, COL25A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COQ2, COQ8A, COX6A2, CPT2, CRPPA, CRYAB, CTDP1, DAG1, DES, DGUOK, DHX16, DMD, DNAJB4, DNAJB6, DNM2, DNMT3B, DOK7, DPM1, DPM2, DPM3, DST, DYSF, ECEL1, EMD, ENO3, EPG5, ETFA, ETFB, ETFDH, FDX2, FHL1, FILIP1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FXR1, G6PC1, GAA, GBE1, GFER, GMPPB, GNE, GOLGA2, GYG1, GYS1, HACD1, HADH, HADHA, HADHB, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB1, HSPB8, INPP5K, ISCU, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, KLHL9, KY, LAMA2, LAMP2, LARGE1, LDB3, LDHA, LETM1, LIMS2, LMNA, LMOD3, LPIN1, LRIF1, MAP3K20, MATR3, MEGF10, MGME1, MICU1, MLIP, MME, MSTO1, 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, MTM1, MTMR14, MYBPC1, MYBPC3, MYF5, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYMX, MYO18B, MYOD1, MYOT, MYPN, NEB, NEFL, NPL, OPA1, OPA3, ORAI1, PABPN1, PAX7, PDHA1, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PIEZO2, PLEC, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPA2, PRKAG2, PUS1, PYGM, PYROXD1, RBCK1, RFC4, RRM2B, RYR1, RYR3, SCN4A, SELENON, SEPTIN9, SGCA, SGCB, SGCD, SGCG, SIL1, SLC16A1, SLC22A5, SLC25A20, SLC25A4, SLC25A42, SMCHD1, SMN1, SMN2, SMPX, SPEG, SPTBN4, SQSTM1, SRPK3, STAC3, STIM1, SUCLA2, SUCLG1, SVIL, SYNE1, TAFAZZIN, TANGO2, TCAP, TIA1, TK2, TMEM126B, TMEM43, TNNC2, TNNI1, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRDN, TRIM32, TRIP4, TSFM, TTN, TYMP, UNC45B, VCP, VDR, VMA21, VPS13A, VWA1, YARS2, ZC4H2
ClinVar P/LP variants (IDs) not covered: AGL:[4529480] | DMD:[3235708]; [4292852]; [4277362]; [2637520] | GNE:[4068787] | HADHB:[3359235] | MEGF10:[3767213] | MME:[3769636] | MYBPC3:[3906261]; [3376667] | SGCB:[4277883] | SMN1:[3906142] | TK2:[3778875]