| - GRCh37:
- Chr6:156974-46757028
- GRCh38:
- Chr6:156974-46789291
| LOC110121246, LOC110121247, LOC110121274, LOC110599562, LOC110631417, LOC111365167, LOC111365181, LOC111429610, LOC111429615, LOC111501776, LOC111556163, LOC111591500, LOC111721708, LOC111721709, LOC111828527, LOC111828528, LOC113121298, LOC113146407, LOC113146411, LOC113146412, LOC113146424, LOC113146425, LOC113174970, LOC113174974, LOC113174975, LOC113174976, LOC113174977, LOC113174978, LOC113174981, LOC113174982, LOC113174983, LOC113174984, LOC113174985, LOC113174986, LOC113174987, LOC113174995, LOC113174996, LOC113174988, LOC113174989, LOC113174991, LOC113174992, LOC113174993, LOC113174997, LOC113174998, LOC113174999, LOC113175000, LOC113175001, LOC113175002, LOC113175003, LOC113175004, LOC113175005, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114004399, LOC114004400, LOC114827825, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC116158540, LOC116158541, LOC116158542, LOC116158543, LOC116158544, LOC116158545, LOC116158546, LOC116158547, LOC116158548, LOC116158549, LOC116158550, LOC116158551, LOC116158552, LOC116183041, LOC116183042, LOC116183043, LOC116183044, LOC116183045, LOC116183046, LOC116183047, LOC116183048, LOC116183049, LOC116183050, LOC116183051, LOC116183052, LOC116183053, LOC116183054, LOC116183055, LOC116183056, LOC116183057, LOC116183058, LOC116183059, LOC116183060, LOC116183061, LOC116183062, LOC116183063, LOC120285838, LOC121099719, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121113498, LOC121113499, LOC121132669, LOC121132670, LOC121132671, LOC121132672, LOC121132673, LOC121132674, LOC121132675, LOC121132676, LOC121132677, LOC121132678, LOC121132679, LOC121132680, LOC121132681, LOC121132682, LOC121132683, LOC121132684, LOC121132685, LOC121132686, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, LOC121740642, LOC121740643, LOC121740644, LOC121740645, LOC121740646, LOC121740647, LOC121740648, LOC123575642, LOC123575643, LOC123575644, LOC123575645, LOC123575646, LOC123575647, LOC123575648, LOC123575649, LOC123575650, LOC123575651, LOC123575652, LOC123575653, LOC123575654, LOC123575655, LOC123575656, LOC123575657, LOC123575658, LOC123575659, LOC123575660, LOC123575661, LOC123575662, LOC123575663, LOC123575664, LOC123575665, LOC123575666, LOC123575667, LOC123575668, LOC123575669, LOC123575670, LOC123575671, LOC123575672, LOC123575673, LOC123575674, LOC123575675, LOC123575676, LOC123575677, LOC123575678, LOC123575679, LOC123575680, LOC123620059, LOC123620060, LOC123620061, LOC123620062, LOC123620063, LOC123620064, LOC123620065, LOC123620066, LOC123620067, LOC123620068, LOC123620069, LOC123620070, LOC123620071, LOC123620072, LOC123620073, LOC123620074, LOC123620075, LOC123620076, LOC123620077, LOC123620078, LOC123620079, LOC123620080, LOC123620081, LOC123620082, LOC123620083, LOC123620084, LOC123620085, LOC123620086, LOC123620087, LOC123620088, LOC123620089, LOC123620090, LOC123620091, LOC123620092, LOC123620093, LOC123620094, LOC123620095, LOC123620096, LOC123620097, LOC123620098, LOC123620099, LOC123620100, LOC123620101, LOC123620102, LOC123620103, LOC123620104, LOC123620105, LOC123620106, LOC123620107, LOC123620108, LOC123620109, LOC123620110, LOC123620111, LOC123620112, LOC123620113, LOC123620114, LOC123620115, LOC123620116, LOC123620117, LOC123620118, LOC123620119, LOC123620120, LOC123620121, LOC123620122, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC123744813, LOC123744814, LOC126088086, LOC126088087, LOC126088088, LOC126859546, LOC126859547, LOC126859548, LOC126859549, LOC126859550, LOC126859551, LOC126859552, LOC126859553, LOC126859554, LOC126859555, LOC126859556, LOC126859557, LOC126859558, LOC126859559, LOC126859560, LOC126859561, LOC126859562, LOC126859563, LOC126859564, LOC126859565, LOC126859566, LOC126859567, LOC126859568, LOC126859569, LOC126859570, LOC126859571, LOC126859572, LOC126859573, LOC126859574, LOC126859575, LOC126859576, LOC126859577, LOC126859578, LOC126859579, LOC126859580, LOC126859581, LOC126859582, LOC126859583, LOC126859584, LOC126859585, LOC126859586, LOC126859587, LOC126859588, LOC126859589, LOC126859590, LOC126859591, LOC126859592, LOC126859593, LOC126859594, LOC126859595, LOC126859596, LOC126859597, LOC126859598, LOC126859599, LOC126859600, LOC126859601, LOC126859602, LOC126859603, LOC126859604, LOC126859605, LOC126859606, LOC126859607, LOC126859608, LOC126859609, LOC126859610, LOC126859611, LOC126859612, LOC126859613, LOC126859614, LOC126859615, LOC126859616, LOC126859617, LOC126859618, LOC126859619, LOC126859620, LOC126859621, LOC126859622, LOC126859623, LOC126859624, LOC126859625, LOC126859626, LOC126859627, LOC126859628, LOC126859629, LOC126859630, LOC126859631, LOC126859632, LOC126859633, LOC126859634, LOC126859635, LOC126859636, LOC126859637, LOC126859638, LOC126859639, LOC126859640, LOC126859641, LOC126859642, LOC126859660, LOC126859643, LOC126859644, LOC126859645, LOC126859646, LOC126859647, LOC126859648, LOC126859649, LOC126859650, LOC126859651, LOC126859652, LOC126859653, LOC126859654, LOC126859655, LOC126859656, LOC126859657, LOC126859658, LOC126859659, LOC126859661, LOC126859662, LOC126859663, LOC126859664, LOC126859665, LOC126859666, LOC126859667, LOC126859668, LOC126859669, LOC126859670, LOC126859671, LOC126859672, LOC126859673, LOC126859674, LOC126859675, LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC126859680, LOC126859681, LOC126859682, LOC127903862, LOC128462396, LOC128462417, LOC128635605, LOC128772275, LOC128772276, LOC128772277, LOC128772278, LOC128772279, LOC128772280, LOC128772281, LOC128772282, LOC128772283, LOC128772284, LOC128772285, LOC128772286, LOC128772287, LOC128772288, LOC128772289, LOC128772290, LOC128772291, LOC128772292, LOC128772293, LOC128772294, LOC128772295, LOC128781586, LOC128781587, LOC128781588, LOC285819, LOC285847, LOC401261, LOC554223, LOC643327, LRFN2, LRRC73, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6F, LY6G6F-LY6G6D, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAD2L1BP, MAK, MAPK13, MAPK14, MEA1, MED20, MAS1L, MBOAT1, MCCD1, MCUR1, MDC1, MDC1-AS1, MDFI, MDGA1, MICA, MICA-AS1, MICB, MIR5004, MICB-DT, MIR10398, MIR1236, MIR1275, MIR219A1, MIR3135B, MIR3143, MIR3691, MIR3925, MIR3934, MIR4462, MIR4639, MIR4640, MIR4641, MIR4642, MIR4645, MIR4646, MIR4647, MIR548A1, MIR548A1HG, MIR5683, MIR5689, MIR5689HG, MIR5690, MIR586, MIR6720, MIR6721, MIR6780B, MIR6832, MIR6833, MIR6834, MIR6835, MIR6873, MIR6891, MIR7111, MIR7159, MIR7853, MIR877, MIR9983, MLN, MOCS1, MRPS10, MOG, MPIG6B, MRPL14, MRPL2, MRPS18A, MRPS18B, MRS2, MSH5, MSH5-SAPCD1, MTCH1, MUC21, NBAT1, NCR2, MUC22, MUCL3, MYLIP, MYLK4, MYMX, NCR3, NEDD9, NELFE, NEU1, NFKBIE, NFKBIL1, NFYA, NHLRC1, NKAPL, NOL7, NOTCH4, NQO2, NQO2-AS1, NRM, NRN1, NRSN1, NUDT3, NUP153, NUP153-AS1, OARD1, OFCC1, OR10C1, OR11A1, OR12D1, OR12D2, OR12D3, OR2B8P, OR14J1, OR1F12, OR2B2, OR2B3, OR2B6, OR2H1, OR2H2, OR2I1P, OR2J1, OR2J2, OR2J3, OR2W1, OR2W1-AS1, OR5V1, PACSIN1, PAK1IP1, PANDAR, PBX2, PEX6, PFDN6, PGBD1, PGC, PHACTR1, PHF1, PI16, PIM1, PLA2G7, PNPLA1, POLH, POLR1C, POLR1H, POM121L2, POU5F1, PPARD, PPIL1, PPP1R3G, PPP1R10, PPP1R11, PPP1R18, PPP2R5D, PPT2, PPT2-EGFL8, PRICKLE4, PRL, PRPF4B, PRPH2, PRR3, PRRC2A, PRRT1, PRSS16, PSMB8, PXDC1, PSMB8-AS1, PSMB9, PSMG4, PSORS1C1, PSORS1C2, PSORS1C3, PTCRA, PTK7, PXT1, RAB44, RANBP9, RBM24, RCAN2, RCAN2-DT, RGL2, RING1, RIOK1, RIPK1, RIPOR2, RNF144B, RNF182, RNF39, RNF5, RNF8, RPL10A, RPL7L1, RPP21, RPP40, RPS10, RPS10-NUDT3, RPS18, RREB1, RRP36, RSPH9, RUNX2, RUNX2-AS1, RXRB, SAPCD1, SAPCD1-AS1, SAYSD1, SCAND3, SCARNA27, SCGN, SCIRT, SCUBE3, SERPINB1, SERPINB6, SERPINB9, SERPINB9-AS1, SFTA2, SIRT5, SKIC2, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC22A23, SLC22A7, SLC25A27, SLC26A8, SLC29A1, SLC35B2, SLC35B3, SLC39A7, SLC44A4, SMIM13, SMIM29, SMIM40, SNHG32, SNORA38, SRF, SNORD117, SNORD32B, SNORD48, SNORD52, SNORD84, SNRNP48, SNRPC, SOX4, SPATS1, SPDEF, SRPK1, SRSF3, SSR1, STK19, STK38, STMND1, SUPT3H, SYCP2L, SYNGAP1, SYNGAP1-AS1, TAF11, TAF8, TAP1, TAP2, TAPBP, TBC1D22B, TBC1D7, TBC1D7-LOC100130357, TBCC, TCF19, TCP11, TCTE1, TDP2, TDRD6, TDRD6-AS1, TDRG1, TEAD3, TFAP2A, TFAP2A-AS1, TFAP2A-AS2, TFEB, TJAP1, TMEM14B, TMEM14B-DT, TMEM14C, TMEM151B, TMEM170B, TMEM217, TMEM217B, TMEM63B, TNF, TNXB, TOMM6, TPMT, TRA-AGC1-1, TRA-AGC10-1, TRA-AGC11-1, TRA-AGC12-1, TRA-AGC14-1, TRA-AGC14-2, TRA-AGC2-1, TRA-AGC2-2, TRA-AGC3-1, TRA-AGC4-1, TRA-AGC5-1, TRA-AGC6-1, TRA-AGC7-1, TRA-AGC9-1, TRA-CGC1-1, TRA-CGC2-1, TRA-CGC4-1, TRA-TGC1-1, TRA-TGC2-1, TRA-TGC5-1, TRA-TGC6-1, TRA-TGC7-1, TRD-GTC2-6, TRD-GTC2-7, TRD-GTC3-1, TRE-CTC1-6, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TRF-GAA1-1, TRF-GAA1-2, TRF-GAA3-1, TRF-GAA4-1, TRI-AAT3-1, TRF-GAA5-1, TRF-GAA6-1, TRG-GCC2-3, TRH-GTG1-5, TRI-AAT2-1, TRI-AAT5-1, TRI-AAT5-2, TRI-AAT5-3, TRI-AAT6-1, TRI-AAT7-1, TRI-AAT7-2, TRI-AAT8-1, TRI-AAT9-1, TRI-TAT2-2, TRI-TAT2-3, TRI-TAT3-1, TRIM10, TRIM15, TRIM26, TRIM27, TRIM31, TRIM31-AS1, TRIM38, TRK-CTT2-4, TRIM39, TRIM39-RPP21, TRIM40, TRK-TTT3-3, TRK-TTT4-1, TRK-TTT6-1, TRK-TTT7-1, TRK-TTT9-1, TRL-AAG2-2, TRL-AAG3-1, TRL-AAG4-1, TRL-CAA1-1, TRL-CAA1-2, TRL-CAA2-1, TRL-CAA3-1, TRL-CAG1-7, TRL-TAA2-1, TRL-TAA4-1, TRM-CAT3-1, TRM-CAT3-2, TRM-CAT4-1, TRM-CAT4-2, TRM-CAT4-3, TRM-CAT5-1, TRM-CAT5-2, TRP-AGG2-2, TRP-CGG2-1, TRQ-CTG1-1, TRQ-CTG1-2, TRQ-TTG3-3, TRQ-CTG1-3, TRQ-CTG2-1, TRQ-CTG5-1, TRQ-CTG6-1, TRQ-TTG2-1, TRQ-TTG3-1, TRQ-TTG3-2, TRR-ACG1-1, TRR-ACG1-2, TRR-ACG2-2, TRR-ACG2-3, TRR-ACG2-4, TRR-CCG1-1, TRR-CCG1-2, TRR-TCG2-1, TRR-TCG4-1, TRR-TCG5-1, TRR-TCT5-1, TRS-AGA1-1, TRS-AGA2-1, TRS-AGA2-2, TRS-AGA2-3, TRS-AGA2-4, TRS-AGA3-1, TRS-AGA4-1, TRS-CGA2-1, TRS-CGA3-1, TRS-GCT1-1, TRS-GCT2-1, TRS-GCT4-1, TRS-GCT5-1, TRS-GCT6-1, TRS-TGA2-1, TRS-TGA3-1, TRS-TGA4-1, TRT-AGT2-1, TRT-AGT2-2, TRT-AGT3-1, TRT-AGT4-1, TRT-AGT6-1, TRT-CGT1-1, TRT-CGT3-1, TRT-CGT5-1, TRT-TGT1-1, TRV-AAC1-5, TRV-AAC3-1, TRV-AAC4-1, TRV-AAC5-1, TRV-AAC6-1, TRV-CAC1-6, TRV-CAC2-1, TRV-CAC6-1, TRV-CAC7-1, TRV-CAC9-1, TRV-TAC4-1, TRW-CCA3-1, TRW-CCA3-2, TRX-CAT1-2, TRX-CAT1-3, TRX-CAT1-4, TRX-CAT1-5, TRX-CAT1-6, TRX-CAT1-7, TRX-CAT2-1, TRY-GTA1-1, TRY-GTA3-1, TRY-GTA6-1, TRY-GTA8-1, TSBP1, TSBP1-AS1, TSPO2, TTBK1, TUBB, TUBB2A, TUBB2B, TULP1, TXNDC5, UBD, UBR2, UNC5CL, UQCC2, USP49, VARS1, VARS2, VEGFA, VPS52, VWA7, ZKSCAN3, WDR46, WRNIP1, XPO5, YIPF3, ZBTB12, ZBTB22, ZBTB9, ZFAND3, ZFP57, ZKSCAN4, ZKSCAN8, ZNF165, ZNF184, ZNF311, ZNF318, ZNF322, ZNF391, ZNF76, ZSCAN12, ZSCAN16, ZSCAN16-AS1, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9, AARS2, ABCC10, ADTRP, ABCF1, ABHD16A, ABT1, ACOT13, AGER, AGPAT1, AIF1, ALDH5A1, ANKRD66, ANKS1A, APOBEC2, APOM, ARMC12, ARMH2, ATAT1, ATF6B, ATP6V1G2, BLTP3A, ATP6V1G2-DDX39B, ATXN1, ATXN1-AS1, B3GALT4, BMP6, BAG6, BAK1, BICRAL, BLOC1S5, BLOC1S5-TXNDC5, BNIP5, BPHL, BRD2, BRPF3, BRPF3-AS1, BTBD9, BTBD9-AS1, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, BTNL2, BYSL, C6orf132, C2, C2-AS1, C4A, C4B, C6orf136, C6orf15, C6orf201, C6orf226, C6orf47, C6orf52, C6orf62, C6orf89, CAGE1, CAP2, CAPN11, CARMIL1, CASC15, CCDC167, CCHCR1, CCND3, CD83, CDC5L, CDKAL1, CDKN1A, CDSN, CDYL, CDYL-AS1, CFB, CIMIP3, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CMTR1, CNPY3, CNPY3-GNMT, COL11A2, CPNE5, CRIP3, CSNK2B, CUL7, CUL9, CUTA, CYP21A2, CYP39A1, DAAM2, DAAM2-AS1, DAXX, DCDC2, DDAH2, DDR1, DDX39B, DDX39B-AS1, DEF6, DEK, DHX16, DINOL, DLK2, DNAH8, DNAH8-AS1, DNAH8-DT, DNPH1, DSP, DSP-AS1, DTNBP1, DUSP22, EEF1E1, DXO, E2F3, E2F3-IT1, ECI2, ECI2-DT, EDN1, EEF1E1-BLOC1S5, EGFL8, EHMT2, EHMT2-AS1, ELOVL2, ELOVL2-AS1, ENPP4, ENPP5, ERVFRD-1, ERVK9-12, ETV7, ETV7-AS1, EXOC2, F13A1, FAM217A, FAM50B, FAM8A1, FANCE, FARS2, FARS2-AS1, FGD2, FKBP5, FKBPL, FOXP4, FLOT1, FOXC1, FOXCUT, FOXF2, FOXF2-DT, FOXP4-AS1, FOXQ1, FRS3, GABBR1, GCM2, GCNT2, GFOD1, GFOD1-AS1, GLO1, GLP1R, GMDS, GMDS-DT, GMNN, GMPR, GNL1, GNMT, GPX6, GPANK1, GPLD1, GPSM3, GPX5, GRM4, GTF2H4, GTPBP2, GUCA1A, GUCA1ANB-GUCA1A, GUCA1B, H1-1, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC1, H2AC11, H2AC12, H2AC13, H2AC14, H2AC15, H2AC16, H2AC17, H2AC4, H2AC6, H2AC7, H2AC8, H2BC1, H2BC10, H2BC11, H2BC12, H2BC13, H2BC14, H2BC15, H2BC17, H2BC3, H2BC4, H2BC5, H2BC6, H2BC7, H2BC8, H2BC9, H3C1, H3C10, H3C11, H3C12, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H4C1, H4C11, H4C12, H4C13, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, HCG11, HCG14, HCG15, HLA-DQB1-AS1, HCG17, HCG18, HCG20, HCG21, HCG22, HCG23, HCG24, HCG25, HCG26, HCG27, HLA-DRB5, HCG4, HCG4B, HCG9, HCP5, HCP5B, HDGFL1, HFE, HFE-AS1, HIVEP1, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-E, HLA-F, HLA-F-AS1, HLA-G, HMGA1, HMGN4, HSD17B8, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HULC, HUS1B, ID4, IER3, IER3-AS1, ILRUN, ILRUN-AS1, IP6K3, IRF4, ITPR3, ITPR3-AS1, JARID2, JARID2-AS1, KAAG1, KCNK16, KCNK17, KCNK5, KCTD20, KDM1B, KIAA0319, KIF13A, KIF6, KIFC1, KLC4, KLHDC3, KU-MEL-3, LARRPM, LEMD2, LHFPL5, LINC00240, LINC00243, LINC00336, LINC00518, LINC00533, LINC00581, LINC00951, LINC01011, LINC01012, LINC01015, LINC01016, LINC01108, LINC01149, LINC01276, LINC01394, LINC01512, LINC01556, LINC01600, LINC01622, LINC01623, LINC02520, LINC02521, LINC02522, LINC02525, LINC02530, LINC02533, LINC02537, LINC02543, LINC02569, LINC02570, LINC02571, LINC02828, LINC02829, LINC03003, LINC03005, LINC03040, LINC03066, LNC-LBCS, LOC100130357, LOC100131289, LOC100287329, LOC100294145, LOC100422781, LOC100506207, LOC100507336, LOC100507547, LOC101926915, LOC101927691, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC101928491, LOC101928519, LOC101928663, LOC101929309, LOC101929535, LOC101929555, LOC102724096, LOC102724749, LOC102724765, LOC105374901, LOC105374928, LOC105374943, LOC105374960, LOC105374988, LOC105374989, LOC105375022, LOC105375026, LOC105375050, LOC105375075, LOC105379699, LOC106780800, LOC106780803, LOC106780804, LOC106794091, LOC106799837, LOC106799842, LOC107063610, LOC107403164, LOC107648851, LOC107648856, LOC107648859, LOC107648863, LOC107648864, LOC107648866, LOC107986531, LOC107986596, LOC108004539, LOC108281120, LOC108281124, LOC108281148, LOC108663993, LOC108961161, LOC109611589, LOC109611593, LOC110120645, LOC110120976, LOC110120988, LOC110121016, LOC110121052, LOC110121065, LOC110121068, LOC110121074, LOC110121080, LOC110121091, LOC110121112, LOC110121134, LOC110121220 | | See cases | Pathogenic (Jul 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:37745145-45621580
- GRCh38:
- Chr6:37777369-45653843
| AARS2, ABCC10, APOBEC2, BICRAL, BTBD9, BTBD9-AS1, BYSL, C6orf132, C6orf226, CAPN11, CCND3, CDC5L, CIMIP3, CNPY3, CNPY3-GNMT, CRIP3, CUL7, CUL9, DAAM2, DAAM2-AS1, DLK2, DNAH8, DNAH8-AS1, DNAH8-DT, DNPH1, FOXP4, FOXP4-AS1, FRS3, GLO1, GLP1R, GNMT, GTPBP2, GUCA1A, GUCA1ANB-GUCA1A, GUCA1B, HSP90AB1, KCNK16, KCNK17, KCNK5, KIF6, KLC4, KLHDC3, LINC00951, LINC01276, LINC01512, LINC02537, LINC03040, LOC101929535, LOC101929555, LOC105375050, LOC105375075, LOC105379699, LOC107986596, LOC109611589, LOC109611593, LOC110120645, LOC110120988, LOC110121080, LOC111721708, LOC111828527, LOC111828528, LOC113175000, LOC113175001, LOC113175002, LOC113175003, LOC113175004, LOC113175005, LOC114827825, LOC116183061, LOC116183062, LOC116183063, LOC120285838, LOC121132683, LOC121132684, LOC121132685, LOC121132686, LOC123620108, LOC123620109, LOC123620110, LOC123620111, LOC123620112, LOC123620113, LOC123620114, LOC123620115, LOC123620116, LOC123620117, LOC123620118, LOC123620119, LOC123620120, LOC123620121, LOC123620122, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC123744813, LOC126859667, LOC126859668, LOC126859669, LOC126859670, LOC126859671, LOC126859672, LOC126859673, LOC126859674, LOC126859675, LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC126859680, LOC401261, LRFN2, LRRC73, MAD2L1BP, MDFI, MEA1, MED20, MIR10398, MIR4641, MIR4642, MIR4647, MIR586, MIR6780B, MIR9983, MOCS1, MRPL14, MRPL2, MRPS10, MRPS18A, MYMX, NCR2, NFKBIE, NFYA, OARD1, PEX6, PGC, POLH, POLR1C, PPP2R5D, PRICKLE4, PRPH2, PTCRA, PTK7, RPL7L1, RRP36, RSPH9, RUNX2, RUNX2-AS1, SAYSD1, SCIRT, SLC22A7, SLC29A1, SLC35B2, SPATS1, SRF, SUPT3H, TAF8, TBCC, TCTE1, TDRG1, TFEB, TJAP1, TMEM151B, TMEM63B, TOMM6, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TSPO2, TTBK1, UBR2, UNC5CL, USP49, VEGFA, XPO5, YIPF3, ZFAND3, ZNF318 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:41605799-46480686
- GRCh38:
- Chr6:41638061-46512949
| AARS2, ABCC10, BICRAL, BYSL, C6orf132, C6orf226, CAPN11, CCND3, CDC5L, CLIC5, CNPY3, CNPY3-GNMT, CRIP3, CUL7, CUL9, DLK2, DNPH1, ENPP4, ENPP5, FRS3, GNMT, GTPBP2, GUCA1A, GUCA1ANB, GUCA1ANB-GUCA1A, GUCA1B, HSP90AB1, KLC4, KLHDC3, LINC01512, LINC02537, LINC03040, LOC101926915, LOC105375075, LOC107986596, LOC109611589, LOC109611593, LOC110121112, LOC111721708, LOC111828528, LOC113175003, LOC113175004, LOC113175005, LOC116183061, LOC116183062, LOC116183063, LOC121132684, LOC121132685, LOC121132686, LOC123620117, LOC123620118, LOC123620119, LOC123620120, LOC123620121, LOC123620122, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC123744813, LOC123744814, LOC126859675, LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC126859680, LOC126859681, LOC126859682, LOC401261, LRRC73, MAD2L1BP, MDFI, MEA1, MED20, MIR10398, MIR4642, MIR4647, MIR586, MIR6780B, MRPL14, MRPL2, MRPS10, MRPS18A, MYMX, NFKBIE, PEX6, PGC, POLH, POLR1C, PPP2R5D, PRICKLE4, PRPH2, PTCRA, PTK7, RCAN2, RCAN2-DT, RPL7L1, RRP36, RSPH9, RUNX2, RUNX2-AS1, SCIRT, SLC22A7, SLC29A1, SLC35B2, SPATS1, SRF, SUPT3H, TAF8, TBCC, TCTE1, TFEB, TJAP1, TMEM151B, TMEM63B, TOMM6, TRERF1, TTBK1, UBR2, USP49, VEGFA, XPO5, YIPF3, ZNF318 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:42336296-44558281
- GRCh38:
- Chr6:42368558-44590544
| AARS2, ABCC10, BICRAL, C6orf226, CAPN11, CDC5L, CNPY3, CNPY3-GNMT, CRIP3, CUL7, CUL9, DLK2, DNPH1, GNMT, GTPBP2, HSP90AB1, KLC4, KLHDC3, LINC01512, LINC02537, LINC03040, LOC105375075, LOC107986596, LOC113175004, LOC113175005, LOC116183063, LOC121132684, LOC121132685, LOC123620120, LOC123620121, LOC123620122, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC401261, LRRC73, MAD2L1BP, MEA1, MIR4642, MIR4647, MIR6780B, MRPL14, MRPL2, MRPS18A, MYMX, NFKBIE, PEX6, POLH, POLR1C, PPP2R5D, PRPH2, PTCRA, PTK7, RPL7L1, RRP36, RSPH9, SCIRT, SLC22A7, SLC29A1, SLC35B2, SPATS1, SRF, TBCC, TCTE1, TJAP1, TMEM151B, TMEM63B, TRERF1, TTBK1, UBR2, VEGFA, XPO5, YIPF3, ZNF318 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43624625-44350167
- GRCh38:
- Chr6:43656888-44382430
| AARS2, CAPN11, HSP90AB1, LINC01512, LINC02537, LINC03040, LOC113175005, LOC121132685, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC126859678, LOC126859679, MIR4647, MRPL14, MRPS18A, MYMX, NFKBIE, POLR1C, RSPH9, SCIRT, SLC29A1, SLC35B2, SPATS1, TCTE1, TMEM151B, TMEM63B, VEGFA | | See cases | Likely benign (Sep 27, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:44266473
- GRCh38:
- Chr6:44298736
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266564
- GRCh38:
- Chr6:44298827
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266565
- GRCh38:
- Chr6:44298828
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266574
- GRCh38:
- Chr6:44298837
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266578
- GRCh38:
- Chr6:44298841
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266648-44266649
- GRCh38:
- Chr6:44298911-44298912
| AARS2, POLR1C | | Combined oxidative phosphorylation deficiency | Benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266681
- GRCh38:
- Chr6:44298944
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266708
- GRCh38:
- Chr6:44298971
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266735
- GRCh38:
- Chr6:44298998
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266748
- GRCh38:
- Chr6:44299011
| POLR1C, AARS2 | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266799
- GRCh38:
- Chr6:44299062
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266811
- GRCh38:
- Chr6:44299074
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266811
- GRCh38:
- Chr6:44299074
| AARS2, POLR1C | | Combined oxidative phosphorylation deficiency | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266813
- GRCh38:
- Chr6:44299076
| POLR1C, AARS2 | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266925
- GRCh38:
- Chr6:44299188
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266958
- GRCh38:
- Chr6:44299221
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266974
- GRCh38:
- Chr6:44299237
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266984
- GRCh38:
- Chr6:44299247
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266991
- GRCh38:
- Chr6:44299254
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44266997-44267000
- GRCh38:
- Chr6:44299260-44299263
| AARS2, POLR1C | | Combined oxidative phosphorylation deficiency | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267000
- GRCh38:
- Chr6:44299263
| AARS2, POLR1C | | Combined oxidative phosphorylation deficiency | Benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267032
- GRCh38:
- Chr6:44299295
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267087
- GRCh38:
- Chr6:44299350
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267171-44267172
- GRCh38:
- Chr6:44299434-44299435
| AARS2, POLR1C | | Combined oxidative phosphorylation deficiency | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267239
- GRCh38:
- Chr6:44299502
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267277
- GRCh38:
- Chr6:44299540
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267287
- GRCh38:
- Chr6:44299550
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267302
- GRCh38:
- Chr6:44299565
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267358
- GRCh38:
- Chr6:44299621
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267531
- GRCh38:
- Chr6:44299794
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267532
- GRCh38:
- Chr6:44299795
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267566
- GRCh38:
- Chr6:44299829
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267601
- GRCh38:
- Chr6:44299864
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267650-44267651
- GRCh38:
- Chr6:44299913-44299914
| AARS2, POLR1C | | Combined oxidative phosphorylation deficiency | Benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267657
- GRCh38:
- Chr6:44299920
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267728-44267729
- GRCh38:
- Chr6:44299991-44299992
| AARS2, POLR1C | | Combined oxidative phosphorylation deficiency | Benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267836
- GRCh38:
- Chr6:44300099
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267861
- GRCh38:
- Chr6:44300124
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267876
- GRCh38:
- Chr6:44300139
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267890
- GRCh38:
- Chr6:44300153
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267918
- GRCh38:
- Chr6:44300181
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267941
- GRCh38:
- Chr6:44300204
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267943
- GRCh38:
- Chr6:44300206
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44267967
- GRCh38:
- Chr6:44300230
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268005
- GRCh38:
- Chr6:44300268
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268022
- GRCh38:
- Chr6:44300285
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268028
- GRCh38:
- Chr6:44300291
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268129
- GRCh38:
- Chr6:44300392
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268135
- GRCh38:
- Chr6:44300398
| AARS2, POLR1C | | not provided | Benign (Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268233
- GRCh38:
- Chr6:44300496
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268275
- GRCh38:
- Chr6:44300538
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8, not provided | Conflicting interpretations of pathogenicity (Jan 27, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:44268290
- GRCh38:
- Chr6:44300553
| AARS2, POLR1C | Q984H | not provided | Benign/Likely benign (Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:44268305
- GRCh38:
- Chr6:44300568
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268334
- GRCh38:
- Chr6:44300597
| AARS2, POLR1C | | not provided | Likely benign (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268337
- GRCh38:
- Chr6:44300600
| AARS2, POLR1C | D969Y | not provided | Conflicting interpretations of pathogenicity (Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:44268349
- GRCh38:
- Chr6:44300612
| POLR1C, AARS2 | G965R | not provided | Uncertain significance (Aug 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268350
- GRCh38:
- Chr6:44300613
| AARS2, POLR1C | | not provided | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268358
- GRCh38:
- Chr6:44300621
| AARS2, POLR1C | Q962* | Combined oxidative phosphorylation defect type 8 | Pathogenic (Jan 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268370
- GRCh38:
- Chr6:44300633
| AARS2, POLR1C | R958* | Inborn genetic diseases | Likely pathogenic (Apr 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268371
- GRCh38:
- Chr6:44300634
| AARS2, POLR1C | | not provided, Combined oxidative phosphorylation defect type 8, Leukoencephalopathy, progressive, with ovarian failure
| Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:44268371
- GRCh38:
- Chr6:44300634
| AARS2, POLR1C | | not specified | Benign (Apr 11, 2012) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268381
- GRCh38:
- Chr6:44300644
| AARS2, POLR1C | A954V | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity (Mar 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:44268382
- GRCh38:
- Chr6:44300645
| AARS2, POLR1C | A954T | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268392
- GRCh38:
- Chr6:44300655
| AARS2, POLR1C | M950I | not provided | Uncertain significance (May 9, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268412
- GRCh38:
- Chr6:44300675
| AARS2, POLR1C | | not provided | Likely benign (Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268430
- GRCh38:
- Chr6:44300693
| AARS2, POLR1C | T938P | not provided | Uncertain significance (Sep 9, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268448
- GRCh38:
- Chr6:44300711
| AARS2, POLR1C | G932S | not provided, Combined oxidative phosphorylation defect type 8 | Uncertain significance (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:44268591
- GRCh38:
- Chr6:44300854
| AARS2, POLR1C | | not provided | Likely benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268702
- GRCh38:
- Chr6:44300965
| AARS2, POLR1C | | not provided | Likely benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268788
- GRCh38:
- Chr6:44301051
| AARS2, POLR1C | | not provided | Likely benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268806-44268807
- GRCh38:
- Chr6:44301069-44301070
| AARS2, POLR1C | | not provided, Combined oxidative phosphorylation defect type 8, Leukoencephalopathy, progressive, with ovarian failure
| Benign (Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:44268873
- GRCh38:
- Chr6:44301136
| AARS2, POLR1C | | not provided | Likely benign (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268903
- GRCh38:
- Chr6:44301166
| AARS2, POLR1C | Q928R | Inborn genetic diseases | Uncertain significance (Oct 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268931-44268958
- GRCh38:
- Chr6:44301194-44301221
| AARS2, POLR1C | T910fs | not provided | Conflicting interpretations of pathogenicity (Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:44268956
- GRCh38:
- Chr6:44301219
| AARS2, POLR1C | | not provided | Likely benign (May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:44268957
- GRCh38:
- Chr6:44301220
| AARS2, POLR1C | T910M | not provided | Uncertain significance (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268957
- GRCh38:
- Chr6:44301220
| AARS2, POLR1C | T910R | not provided | Uncertain significance (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268964
- GRCh38:
- Chr6:44301227
| AARS2, POLR1C | P908S | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity (Feb 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:44268968
- GRCh38:
- Chr6:44301231
| POLR1C, AARS2 | Q906H | not provided | Uncertain significance (Jul 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268984
- GRCh38:
- Chr6:44301247
| AARS2, POLR1C | R901Q | not provided | Uncertain significance (Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268985
- GRCh38:
- Chr6:44301248
| AARS2, POLR1C | R901G | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44268985
- GRCh38:
- Chr6:44301248
| AARS2, POLR1C | R901W | Combined oxidative phosphorylation defect type 8, not provided | Conflicting interpretations of pathogenicity (Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:44269004
- GRCh38:
- Chr6:44301267
| AARS2, POLR1C | | Combined oxidative phosphorylation defect type 8 | Uncertain significance (Dec 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44269012
- GRCh38:
- Chr6:44301275
| AARS2, POLR1C | | not provided | Likely benign (Mar 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44269013
- GRCh38:
- Chr6:44301276
| POLR1C, AARS2 | | Combined oxidative phosphorylation defect type 8, not provided | Conflicting interpretations of pathogenicity (Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:44269023-44269024
- GRCh38:
- Chr6:44301286-44301287
| AARS2, POLR1C | | not provided | Uncertain significance (Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44269023
- GRCh38:
- Chr6:44301286
| AARS2, POLR1C | | Leukoencephalopathy, progressive, with ovarian failure, Combined oxidative phosphorylation defect type 8, not provided
| Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:44269048
- GRCh38:
- Chr6:44301311
| AARS2, POLR1C | | not provided | Likely benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44269087
- GRCh38:
- Chr6:44301350
| AARS2, POLR1C | | not provided | Likely benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44269091
- GRCh38:
- Chr6:44301354
| AARS2, POLR1C | | not provided | Likely benign (Dec 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44269100
- GRCh38:
- Chr6:44301363
| AARS2, POLR1C | | not provided, not specified | Likely benign (Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:44269108
- GRCh38:
- Chr6:44301371
| AARS2, POLR1C | | not provided | Likely benign (Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44269113
- GRCh38:
- Chr6:44301376
| AARS2, POLR1C | | See cases | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr6:44269119
- GRCh38:
- Chr6:44301382
| POLR1C, AARS2 | S894* | not provided | Pathogenic (Feb 10, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44269121
- GRCh38:
- Chr6:44301384
| AARS2, POLR1C | | not provided, Combined oxidative phosphorylation defect type 8 | Conflicting interpretations of pathogenicity (May 27, 2022) | criteria provided, conflicting interpretations |