GC_30 Spastic paraplegia
Last update: 19.01.2026
ABCD1, ABHD16A, ACBD6, ACER3, ADAR, ADGRB2, AFG3L2, AIMP1, ALDH18A1, ALDH3A2, ALK, ALS2, AMFR, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2B4, B4GALNT1, BCAS3, BHLHE22, BICD2, BLOC1S1, BORCS8, BSCL2, BTD, C12ORF65, C19ORF12, C19orf12, CACNA1G, CAPN1, CCDC82, CCT5, CDK16, CHP1, CLDN11, COASY, COQ4, CPT1C, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS1, DDHD1, DDHD2, DDX3X, DSTYK, ELOVL1, ENTPD1, ERLIN1, ERLIN2, EXOSC3, EXOSC8, FA2H, FAR1, FARS2, FBXO7, FICD, FLVCR1, FXN, GAD1, GALC, GBA2, GBE1, GCH1, GJA1, GJC2, GLRX5, GPT2, HACE1, HECTD4, HEXA, HIKESHI, HMBS, HPDL, HSPD1, IBA57, IFIH1, INPP4A, IRF2BPL, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KPNA3, L1CAM, L2HGDH, LETM1, LSM7, LYST, MAG, MAPK8IP3, MARS1, MARS2, MTPAP, MTRFR, NDUFA12, NFU1, NIPA1, NKX6-2, NOTCH3, NRCAM, NSRP1, NT5C2, OGDHL, OPA3, PAH, PCYT2, PGAP1, PI4KA, PLP1, PNPLA6, POLR3A, POLR3K, PPFIBP1, PRNP, PSEN1, RAB3GAP2, RARS1, REEP1, REEP2, RETREG1, RHOB, RINT1, RNASEH2B, RNF170, RNU7-1, RTN2, SACS, SARS2, SELENOI, SERAC1, SETX, SLC16A2, SLC1A4, SLC25A15, SLC25A46, SLC2A1, SLC33A1, SOD1, SPART, SPAST, SPATA5L1, SPG11, SPG21, SPG7, SPR, SPTAN1, SPTSSA, STN1, TAF8, TBCB, TECPR2, TFG, TH, TMEM63C, TNR, TUBB4A, UBAP1, UCHL1, USP8, VAMP1, VPS37A, WASHC5, WDR45, WDR45B, WDR48, ZFR, ZFYVE26, ZFYVE27
ClinVar P/LP variants (IDs) not covered: CTNNB1:[4293194] | KDM5C:[4281593] | LYST:[3602577] | PAH:[242452] | SERAC1:[4526663]
GC_52 Hereditary ataxia
Last update: 16.01.2026
AAAS, AARS1, AARS2, ABCA2, ABCB7, ABCD1, ABHD12, ACBD6, ACO2, ADCY5, ADGRG1, ADPRS, AFG3L2, AGTPBP1, AHI1, ALDH5A1, ALG1, ALG11, ALG12, ALG14, ALG3, ALG6, ALG8, ALG9, AMPD2, ANO10, AP1S2, APTX, ARL13B, ARL3, ARL6, ARMC9, ARSA, ASL, ATAD3A, ATCAY, ATG7, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP6AP1, ATP6V0A1, ATP6V0A2, ATP6V0C, ATP7B, ATP8A2, ATXN10, ATXN8, ATXN8OS, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEAN1, BRF1, C10ORF2, C12ORF4, C2CD3, C5ORF42, CA8, CACNA1A, CACNA1G, CACNA2D2, CACNB4, CAD, CAMTA1, CAPN1, CAPRIN1, CASK, CBY1, CC2D2A, CCDC115, CCDC88C, CDK5, CENPF, CEP104, CEP290, CEP41, CHCHD10, CHMP1A, CHMP3, CHP1, CHST14, CHST3, CHST6, CHSY1, CILK1, CLCN2, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, COA7, COASY, COG1, COG3, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ5, COQ8A, COX20, CP, CPLANE1, CRB2, CRNKL1, CRPPA, CSGALNACT1, CSPP1, CSTB, CTBP1, CTDP1, CTSA, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DAG1, DAGLA, DARS2, DCC, DDHD2, DDOST, DDX59, DHCR7, DHDDS, DHPS, DHRSX, DKC1, DLAT, DLG4, DNAJC19, DNAJC3, DNAJC5, DNMT1, DOCK3, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYSL5, DYNC1H1, EBF3, EDEM3, EEF2, EEFSEC, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EN1, EOGT, EPM2A, ERCC4, EVC, EVC2, EXOC3L2, EXOSC3, EXOSC5, EXOSC8, EXOSC9, EXT1, EXT2, FA2H, FAM149B1, FAT2, FBXL4, FCSK, FDXR, FEM1C, FGF14, FKRP, FKTN, FLVCR1, FMR1, FOLR1, FRMD5, FTH1, FUT8, FXN, G6PC3, GALC, GALNT2, GALNT3, GBA2, GDAP2, GEMIN5, GFAP, GFPT1, GJC2, GLI3, GLRA1, GLRB, GLS, GMPPA, GMPPB, GNE, GORAB, GOSR2, GPAA1, GRID2, GRIK2, GRM1, GRN, GSS, HARS1, HARS2, HEATR5B, HEXA, HEXB, HIBCH, HMBS, HYLS1, IFT74, INPP4A, INPP5E, INTS11, IRF2BPL, ITM2B, ITPR1, KATNIP, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KCNN2, KCNQ2, KCNQ3, KIAA0586, KIAA0753, KIF1A, KIF1C, KIF5A, KIF7, LAMA1, LARGE1, LARS2, LETM1, LFNG, LIG3, LMNB1, LNPK, LRPPRC, LRRC45, LRSAM1, LSM7, MAG, MAGT1, MAN1B1, MAN2B2, MAPK8IP3, MARS2, MECR, MFN2, MFSD8, MGAT2, MGME1, MINPP1, MKKS, MKS1, MMACHC, MME, MOGS, MORC2, MPDU1, MPI, MRE11, 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, MTCL1, MTFMT, MTPAP, MTTP, MVK, NAA60, NAXE, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NFASC, NGLY1, NHLRC1, NKX2-1, NKX6-2, NOL3, NPC1, NPC2, NPHP1, NPHP3, NPTX1, NUBPL, NUS1, OFD1, OGDHL, OPA1, OPA3, OPHN1, PACS2, PANK2, PAX6, PDE1B, PDHA1, PDYN, PEX10, PEX16, PEX2, PEX3, PEX6, PEX7, PGAP2, PGAP3, PGM1, PGM3, PHGDH, PHYH, PI4KA, PIBF1, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PIK3R5, PITRM1, PLA2G6, PMM2, PMPCA, PMPCB, PNKD, PNKP, PNPLA6, PNPT1, POC1B, POLG, POLR3A, POLR3B, POLR3K, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU4F1, PRDM13, PRDX3, PRICKLE1, PRKCG, PRNP, PRPS1, PRRT2, PTF1A, PTPMT1, PTPN1, PTRH2, PUM1, RAB3A, RARS2, RELN, RFC1, RFT1, RFXANK, RNF170, RNF216, RNF220, ROBO3, RORA, RPGRIP1L, RUBCN, RXYLT1, SACS, SAMD9L, SAR1B, SCLT1, SCN1A, SCN2A, SCN8A, SCYL1, SEC23B, SEPSECS, SERAC1, SETX, SH3TC2, SIL1, SLC17A5, SLC1A3, SLC20A2, SLC25A15, SLC25A46, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC44A1, SLC52A2, SLC52A3, SLC9A1, SLC9A6, SMPD4, SNAP25, SNX14, SPART, SPG11, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, SRD5A3, SSR3, SSR4, ST3GAL3, ST3GAL5, STT3A, STUB1, STXBP1, SUFU, SUOX, SVBP, SYNE1, SYNGAP1, SYT14, TANGO2, TBC1D23, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TECPR2, TERT, TGM6, THG1L, TINF2, TMEM106B, TMEM107, TMEM138, TMEM151A, TMEM165, TMEM199, TMEM216, TMEM218, TMEM231, TMEM237, TMEM240, TMEM67, TOE1, TOGARAM1, TPP1, TRAPPC11, TRIM32, TSEN15, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTC8, TTPA, TUBA1A, TUBA4A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUSC3, TWNK, TXNDC15, UBA5, UBTF, UCHL1, UGGT1, UNC13A, VAMP1, VLDLR, VPS13B, VPS13D, VPS41, VPS53, VRK1, VWA3B, WDPCP, WDR73, WDR81, WFS1, WWOX, XRCC1, XYLT1, XYLT2, ZFYVE26, ZNF423, ZNF865, ZSWIM6
ClinVar P/LP variants (IDs) not covered: ATM: [4169743]; [3802353]; [3325980]; [2121591]; [3802702] | CEP290: [3774377] | GNE: [4068787] | MME: [3769636] | OFD1: [375728] | PANK2: [3897668] | SCN1A: [4538527] | SERAC1: [4526663] | SSR4: [1878509] | WWOX: [4294336]
GC_69 Neuromuscular Disorders
Last update: 31.01.2026
AAAS, AARS1, ABCA1, ABCD1, ABHD12, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACOX1, ACTA1, ACTN2, ADA2, ADCY6, ADGRG6, ADPRS, ADSS1, AFG3L2, AGL, AGRN, AGTPBP1, AGXT, AHCY, AIFM1, ALDH18A1, ALDOA, ALG14, ALG2, AMACR, AMPD1, AMPD2, ANO5, AP1S1, AP5Z1, APOA1, APTX, ARHGAP19, ARHGEF10, ARL6IP1, ARSA, ASAH1, ASCC1, ASCC3, ATAD3A, ATL1, ATL3, ATM, ATP13A2, ATP1A1, ATP2A1, ATP7A, ATP7B, ATXN10, ATXN8, ATXN8OS, B3GALNT2, B4GALNT1, B4GAT1, BAG3, BCKDHB, BET1, BICD2, BIN1, BSCL2, BVES, C10ORF2, C12ORF65, CACNA1B, CACNA1S, CADM3, CAPN1, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CCT5, CD59, CFAP276, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CIAO1, CLCN1, CLP1, CNTN1, CNTNAP1, COA7, COL12A1, COL13A1, COL25A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ7, COQ8A, COX10, COX18, COX20, COX6A1, COX6A2, CPOX, CPT2, CRPPA, CRYAB, CTDP1, CYP27A1, CYP2U1, CYP7B1, DAG1, DARS2, DCAF8, DCTN1, DEGS1, DES, DGUOK, DHH, DHTKD1, DHX16, DHX9, DMD, DMXL2, DNAJB2, DNAJB4, DNAJB6, DNAJC3, DNM2, DNMT1, DNMT3B, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DRP2, DST, DSTYK, DTNA, DYNC1H1, DYSF, ECEL1, EGR2, ELP1, EMD, EMILIN1, ENO3, EPG5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, EXOSC3, EXOSC9, FA2H, FAH, FAM126A, FBLN5, FBXO38, FDX2, FDXR, FGD4, FHL1, FICD, FIG4, FILIP1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FLVCR1, FXN, FXR1, G6PC1, GAA, GALC, GAN, GARS1, GBA2, GBE1, GBF1, GDAP1, GFER, GFPT1, GGPS1, GJB1, GJC2, GLA, GMPPB, GNB4, GNE, GOLGA2, GOSR2, GSN, GYG1, GYS1, HACD1, HADH, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HMBS, HMGCR, HNRNPA1, HNRNPA2B1, HNRNPDL, HPDL, HSPB1, HSPB3, HSPB8, IARS2, IGHMBP2, INF2, INPP5K, ISCU, ITGA7, ITPR3, JAG1, JAG2, KARS1, KBTBD13, KCNA2, KCNJ2, KIF1A, KIF1B, KIF21A, KIF5A, KLHL40, KLHL41, KLHL9, KY, LAMA2, LAMB2, LAMP2, LARGE1, LAS1L, LDB3, LDHA, LETM1, LIMS2, LITAF, LMNA, LMOD3, LPIN1, LRIF1, LRP12, LRP4, LRSAM1, LYST, MAG, MAP3K20, MAPK8IP3, MARS1, MATR3, MCM3AP, MED25, MEGF10, MFF, MFN2, MGME1, MICAL1, MICU1, MLIP, MMACHC, MME, MORC2, MPV17, MPZ, 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, MTMR2, MTRFR, MTTP, MUSK, MYBPC1, MYBPC3, MYF5, MYH14, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYMX, MYO18B, MYO9A, MYOD1, MYOT, MYPN, NAGA, NARS1, NDC1, NDRG1, NDUFS6, NEB, NEFH, NEFL, NEMF, NFASC, NGF, NPL, NTRK1, NUDT2, OPA1, OPA3, ORAI1, PABPN1, PAX7, PDHA1, PDK3, PDSS2, PDXK, PDYN, PEX10, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PHYH, PIEZO2, PIGB, PIGG, PLA2G6, PLAAT3, PLEC, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA2, PNPLA6, PNPT1, POGLUT1, POLG, POLG2, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PPA2, PPOX, PRDM12, PREPL, PRKAG2, PRKCG, PRNP, PRPS1, PRX, PSMC3, PTPN11, PTRH2, PUS1, PYGM, PYROXD1, RAB7A, RAPSN, RBCK1, RCC1, REEP1, RETREG1, RFC4, RRM2B, RTN2, RXYLT1, RYR1, RYR3, SACS, SAMD9L, SARS1, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN4A, SCN9A, SCO2, SCYL1, SELENON, SEPTIN9, SETX, SGCA, SGCB, SGCD, SGCG, SGPL1, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A19, SLC25A20, SLC25A21, SLC25A4, SLC25A42, SLC25A46, SLC52A1, SLC52A2, SLC52A3, SLC5A6, SLC5A7, SMAD3, SMCHD1, SMN1, SMN2, SMPX, SNAP25, SORD, SOX10, SPAST, SPEG, SPG11, SPG7, SPTAN1, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRPK3, STAC3, STIM1, SUCLA2, SUCLG1, SUN1, SUN2, SURF1, SVIL, SYNE1, SYNE2, SYT2, TAFAZZIN, TANGO2, TBCE, TCAP, TDP1, TECPR2, TFG, TIA1, TK2, TMEM126B, TMEM43, TNNC2, TNNI1, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRDN, TRIM2, TRIM32, TRIP4, TRMT5, TRPA1, TRPV4, TSFM, TTC19, TTN, TTPA, TTR, TUBB3, TWNK, TYMP, UBA1, UCHL1, UNC13A, UNC45B, UQCRC1, VAMP1, VAPB, VCP, VDR, VMA21, VPS13A, VPS13D, VRK1, VWA1, WARS1, WNK1, XK, XPA, XPNPEP3, XRCC1, YARS1, YARS2, ZC4H2, ZFHX2, ZFYVE26
ClinVar P/LP variants (IDs) not covered: AGL:[4529480] | ATM:[4169743]; [3802353]; [3325980]; [2121591]; [3802702] | DMD:[3235708]; [4292852]; [4277362]; [2637520] | GLA:[1678527] | GNE:[4068787] | HADHB:[3359235] | LYST:[3602577] | MEGF10:[3767213] | MME:[3769636] | MYBPC3:[3906261]; [3376667] | SGCB:[4277883] | SMN1:[3906142] | TK2:[3778875]
GC_82 Parkinson disease
Last update: 07.01.2026
ARSA, ATP13A2, ATP1A3, ATP7B, C19ORF12, C19orf12, CHCHD10, CHCHD2, COASY, CP, CSF1R, DCTN1, DDC, DNAJC12, DNAJC5, DNAJC6, FBXO7, FTL, GBA, GBA1, GCH1, GRN, LRRK2, LYST, MAPT, 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, NUS1, OPA3, PANK2, PARK7, PDE10A, PDE8B, PDGFB, PDGFRB, PINK1, PLA2G6, PODXL, POLG, PRKN, PRKRA, PSAP, PSEN1, PTPA, PTRHD1, PTS, RAB32, RAB39B, SLC18A2, SLC20A2, SLC30A10, SLC39A14, SLC6A3, SNCA, SPG11, SPR, SYNJ1, TAF1, TH, TMEM230, TUBB4A, UCHL1, VPS13A, VPS13C, VPS35, WARS2, WDR45, XPR1, ZFYVE26
ClinVar P/LP variants (IDs) not covered: LYST:[3602577] | PANK2: [3897668]
GC_84 Leukodystrophy
Leukodystrophies and genetic leukoencephalopathies are inherited disorders affecting the development, maintenance, or function of cerebral white matter. They may present during infancy or childhood, but several genetic white matter disorders can also first become clinically apparent during adolescence or adulthood.
Clinical manifestations vary according to age of onset and underlying disorder and may include developmental delay or regression, progressive motor impairment, spasticity, ataxia, seizures, cognitive or psychiatric changes, peripheral neuropathy, optic involvement, and systemic abnormalities.
This panel includes genes associated with the major hereditary leukodystrophies and genetic leukoencephalopathies, including lysosomal and peroxisomal disorders, mitochondrial white matter diseases, hypomyelinating disorders, vanishing white matter disease, Alexander disease, and other inherited disorders affecting cerebral white matter.
This panel is recommended for pediatric or adult patients with MRI findings suggestive of a leukodystrophy or otherwise unexplained white matter disease, particularly when accompanied by progressive neurologic deterioration, developmental regression, spasticity, ataxia, neuropathy, optic involvement, adrenal abnormalities, psychiatric or cognitive changes, or metabolic features.
Last update: 07.01.2026
AARS1, AARS2, ABCD1, ABHD16A, ACBD5, ACER3, ACOX1, ACP5, ADAR, AIFM1, AIMP1, AIMP2, ALDH3A2, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARSA, ASPA, ATP11A, ATPAF2, AUH, BCAP31, BCS1L, BLOC1S1, BOLA3, C2orf69, CIC, CLCN2, CLDN11, CLDN5, CLPP, CMPK2, CNP, CNTNAP1, COA7, COA8, COL4A1, COLGALT1, COQ2, COQ8A, COQ9, COX10, COX15, COX6B1, CSF1R, CTC1, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DARS1, DARS2, DCAF17, DDB2, DEGS1, DGUOK, DPYD, EARS2, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL1, ENTPD1, EPB41L3, EPRS1, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, ERCC8, ESAM, ETFDH, FA2H, FAM126A, FARSA, FDX2, FIG4, FLVCR2, FOLR1, FOXRED1, FUCA1, GALC, GALNT2, GAN, GBE1, GFAP, GFM1, GJA1, GJB1, GJC2, GLB1, GLRX5, GPRC5B, GTF2H5, HEPACAM, HIBCH, HIKESHI, HMBS, HPDL, HSD17B4, HSPD1, HTRA1, HYCC1, IBA57, IFIH1, ISCA1, ISCA2, JAM3, KARS1, KIF5A, L2HGDH, LAMB1, LIG3, LMNB1, LSM11, LSM7, LYRM7, MAL, MARS2, MCOLN1, MEF2C, MLC1, MPLKIP, MRE11, MRPL44, MRPS16, 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, MTFMT, MYORG, NAA60, NAXD, NAXE, NDUFA2, NDUFAF1, NDUFAF3, NDUFAF5, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NKX6-2, NOTCH3, NT5C2, NUBPL, NUP188, OCLN, PAFAH1B1, PDGFB, PDGFRB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PI4KA, PLAA, PLEKHG2, PLP1, PNPT1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POLR3K, PPFIBP1, PSAP, PTEN, PYCR2, RAB11B, RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RNF220, RNU7-1, RPIA, RRM2B, SAMHD1, SCAF4, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SERAC1, SLC13A3, SLC16A2, SLC17A5, SLC1A4, SLC20A2, SLC25A12, SLC25A4, SLC35B2, SNORD118, SOX10, SPART, SPG11, SPG7, STAT2, STN1, SUCLA2, SUMF1, SURF1, TACO1, TMEM106B, TMEM163, TMEM63A, TREM2, TREX1, TTC19, TUBB4A, TUFM, TWNK, TYMP, TYROBP, UFM1, USP18, VPS11, WARS2, XPA, XPC, XPR1, ZFYVE26, ZNHIT3
ClinVar P/LP variants (IDs) not covered: PEX14:[3663959] | PTEN:[2587202] | SERAC1:[4526663]