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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:156974-46757028
GRCh38:
Chr6:156974-46789291
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, DXO, E2F3, E2F3-IT1, ECI2, ECI2-DT, EDN1, EEF1E1, 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, FLOT1, FOXC1, FOXCUT, FOXF2, FOXF2-DT, FOXP4, FOXP4-AS1, FOXQ1, FRS3, GABBR1, GCM2, GCNT2, GFOD1, GFOD1-AS1, GLO1, GLP1R, GMDS, GMDS-DT, GMNN, GMPR, GNL1, GNMT, GPANK1, GPLD1, GPSM3, GPX5, GPX6, GRM4, H1-2, GTF2H4, GTPBP2, GUCA1A, GUCA1ANB-GUCA1A, GUCA1B, H1-1, 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, H2BC6-AS1, 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, HCG17, HCG18, HCG20, HCG21, HCG22, HUS1B, HCG23, HCG24, HCG25, HLA-DQB1-AS1, HCG26, HCG27, HCG4, HSP90AB1, HCG4B, HCG9, HCP5, HLA-DRB5, 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, HSPA1A, HSPA1B, HSPA1L, HULC, ID4, IER3, IER3-AS1, ILRUN, ILRUN-AS1, IP6K3, IRF4, ITPR3, ITPR3-AS1, JARID2, JARID2-AS1, JARID2-DT, 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, LINC02976, LINC02980, 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, 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, LOC113174988, LOC113174989, LOC113174991, LOC113174992, LOC113174993, LOC113174995, LOC113174996, 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, NHLRC1, NEU1, NFKBIE, NFKBIL1, NFYA, 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, ZNF184, WDR46, WRNIP1, XPO5, YIPF3, ZBED9-AS1, ZBTB12, ZBTB22, ZBTB9, ZFAND3, ZSCAN12, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF311, ZNF318, ZNF322, ZNF391, ZNF76, ZSCAN16, ZSCAN16-AS1, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9, AARS2, ABCC10, ABCF1, ABHD16A, ABT1, ACOT13, ADTRP, AGER, AGPAT1, AIF1, ALDH5A1, ANKRD66, ANKS1A, APOBEC2, APOM, ARMC12, ARMH2, ATAT1, ATF6B, BLOC1S5-TXNDC5, ATP6V1G2, ATP6V1G2-DDX39B, ATXN1, ATXN1-AS1, B3GALT4, BAG6, BAK1, BICRAL, BLOC1S5, BLTP3A, BMP6, BNIP5, BPHL, BRD2, BRPF3, BRPF3-AS1, BTBD9, BTBD9-AS1, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, BTNL2, BYSL, C2, C2-AS1, C4A, C4B, C6orf132, 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, LOC129996227, LOC129996228, LOC129996229, LOC129996230, LOC129996231, LOC129996232, LOC129996233, LOC129996234, LOC129996235, LOC129996236, LOC129996237, LOC129996238, LOC129996239, LOC129996240, LOC129996241, LOC129996242, LOC129996243, LOC129996244, LOC129996245, LOC129996246, LOC129996247, LOC129996248, LOC129996249, LOC129996250, LOC129996251, LOC129996252, LOC129996253, LOC129996254, LOC129996255, LOC129996256, LOC129996257, LOC129996258, LOC129996259, LOC129996260, LOC129996261, LOC129996262, LOC129996263, LOC129996264, LOC129996265, LOC129996266, LOC129996267, LOC129996268, LOC129996269, LOC129996270, LOC129996271, LOC129996272, LOC129996273, LOC129996274, LOC129996275, LOC129996276, LOC129996277, LOC129996278, LOC129996279, LOC129996280, LOC129996281, LOC129996282, LOC129996283, LOC129996284, LOC129996285, LOC129996286, LOC129996287, LOC129996288, LOC129996289, LOC129996290, LOC129996291, LOC129996292, LOC129996293, LOC129996294, LOC129996295, LOC129996296, LOC129996297, LOC129996298, LOC129996299, LOC129996300, LOC129996301, LOC129996302, LOC129996303, LOC129996304, LOC129996305, LOC129996306, LOC129996307, LOC129996308, LOC129996309, LOC129996310, LOC129996311, LOC129996312, LOC129996313, LOC129996314, LOC129996315, LOC129996316, LOC129996317, LOC129996318, LOC129996319, LOC129996320, LOC129996321, LOC129996322, LOC129996323, LOC129996324, LOC129996325, LOC129996326, LOC129996327, LOC129996328, LOC129996329, LOC129996330, LOC129996331, LOC129996332, LOC129996333, LOC129996334, LOC129996335, LOC129996336, LOC129996337, LOC129996338, LOC129996339, LOC129996340, LOC129996341, LOC129996342, LOC129996343, LOC129996344, LOC129996345, LOC129996346, LOC129996347, LOC129996348, LOC129996349, LOC129996350, LOC129996351, LOC129996352, LOC129996353, LOC129996354, LOC129996355, LOC129996356, LOC129996357, LOC129996358, LOC129996359, LOC129996360, LOC129996361, LOC129996362, LOC129996363, LOC129996364, LOC129996365, LOC129996366, LOC129996367, LOC129996368, LOC129996369, LOC129996370, LOC129996371, LOC129996372, LOC129996373, LOC129996374, LOC129996375, LOC129996376, LOC129996377, LOC129996378, LOC129996379, LOC129996380, LOC129996381, LOC129996382, LOC129996383, LOC129996384, LOC129996385, LOC129996386, LOC129996387, LOC129996388, LOC129996389, LOC129996390, LOC129996391, LOC129996392, LOC129996393, LOC129996394, LOC129996395, LOC129996396, LOC129996397, LOC129996398, LOC129996399, LOC129996400, LOC129996401, LOC129996402, LOC129996403, LOC129996404, LOC129996405, LOC129996406, LOC129996407, LOC129996408, LOC129996409, LOC129996410, LOC129996411, LOC129996412, LOC129996413, LOC129996414, LOC129996415, LOC129996416, LOC129996417, LOC129996418, LOC129996419, LOC129996420, LOC129996421, LOC129996422, LOC129996423, LOC129996424, LOC129996425, LOC129996426, LOC129996427, LOC129996428, LOC129996429, LOC129996430, LOC129996431, LOC129996432, LOC129996433, LOC129996434, LOC129996435, LOC129996436, LOC129996437, LOC129996438, LOC129996439, LOC129996440, LOC129996441, LOC129996442, LOC129996443, LOC129996444, LOC129996445, LOC129996446, LOC129996447, LOC129996448, LOC129996449, LOC129996450, LOC129996451, LOC129996452, LOC129996453, LOC129996454, LOC129996455, LOC129996456, LOC129996457, LOC129996458, LOC129996459, LOC129996460, LOC129996461, LOC129996462, LOC129996463, LOC129996464, LOC129996465, LOC129996466, LOC129996467, LOC129996468, LOC129996469, LOC129996470, LOC129996471, LOC129996472, LOC129996473, LOC129996474, LOC129996475, LOC129996476, LOC129996477, LOC129996478, LOC129996479, LOC129996480, LOC129996481, LOC129996482, LOC129996483, LOC129996484, LOC129996485, LOC129996486, LOC129996487, LOC129996488, LOC129996489, LOC129996490, LOC129996491, LOC129996492, LOC129996493, LOC129996494, LOC129996495, LOC129996496, LOC129996497, LOC129996498, LOC129996499, LOC129996500, LOC129996501, LOC129996502, LOC129996503, LOC129996504, LOC129996505, LOC129996506, LOC129996507, LOC129996508, LOC129996509, LOC129996510, LOC129996511, LOC129996512, LOC129996513, LOC129996514, LOC129996515, LOC129996516, LOC129996517, LOC129996518, LOC129996519, LOC129996520, LOC129996521, LOC129996522, LOC129996523, LOC129996524, LOC129996525, LOC129996526, LOC129996527, LOC129996528, LOC129996529, 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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, LOC129389423, LOC129389424, LOC129389425, LOC129389426, LOC129389427, LOC129389428, LOC129389429, LOC129389430, LOC129389431, LOC129389432, LOC129389433, LOC129389434, LOC129389435, LOC129389436, LOC129389437, LOC129389438, LOC129389439, LOC129389440, LOC129389441, LOC129389442, LOC129389443, LOC129389444, LOC129389445, LOC129389446, LOC129389447, LOC129389448, LOC129389449, LOC129389450, LOC129389451, LOC129389452, LOC129389453, LOC129389454, LOC129389455, LOC129389456, LOC129389457, LOC129389458, 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LOC129995591, LOC129995592, LOC129995593, LOC129995594, LOC129995595, LOC129995596, LOC129995597, LOC129995598, LOC129995599, LOC129995600, LOC129995601, LOC129995602, LOC129995603, LOC129995604, LOC129995605, LOC129995606, LOC129995607, LOC129995608, LOC129995609, LOC129995610, LOC129995611, LOC129995612, LOC129995613, LOC129995614, LOC129995615, LOC129995616, LOC129995617, LOC129995618, LOC129995619, LOC129995620, LOC129995621, LOC129995622, LOC129995623, LOC129995624, LOC129995625, LOC129995626, LOC129995627, LOC129995628, LOC129995629, LOC129995630, LOC129995631, LOC129995632, LOC129995633, LOC129995634, LOC129995635, LOC129995636, LOC129995637, LOC129995638, LOC129995639, LOC129995640, LOC129995641, LOC129995642, LOC129995643, LOC129995644, LOC129995645, LOC129995646, LOC129995647, LOC129995648, LOC129995649, LOC129995650, LOC129995651, LOC129995652, LOC129995653, LOC129995654, LOC129995655, LOC129995656, LOC129995657, LOC129995658, LOC129995659, LOC129995660, LOC129995661, LOC129995662, LOC129995663, LOC129995664, LOC129995665, LOC129995666, LOC129995667, LOC129995668, LOC129995669, LOC129995670, LOC129995671, LOC129995672, LOC129995673, LOC129995674, LOC129995675, LOC129995676, LOC129995677, LOC129995678, LOC129995679, LOC129995680, LOC129995681, LOC129995682, LOC129995683, LOC129995684, LOC129995685, LOC129995686, LOC129995687, LOC129995688, LOC129995689, LOC129995690, LOC129995691, LOC129995692, LOC129995693, LOC129995694, LOC129995695, LOC129995696, LOC129995697, LOC129995698, LOC129995699, LOC129995700, LOC129995701, LOC129995702, LOC129995703, LOC129995704, LOC129995705, LOC129995706, LOC129995707, LOC129995708, LOC129995709, LOC129995710, LOC129995711, LOC129995712, LOC129995713, LOC129995714
See casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
2.
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, LINC02976, 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, LOC129389510, LOC129389511, LOC129389512, LOC129389513, LOC129389514, LOC129389515, LOC129389516, LOC129389517, LOC129389518, LOC129389519, LOC129389520, LOC129389521, LOC129389522, LOC129389523, LOC129389524, LOC129389525, LOC129389526, LOC129389527, LOC129389528, LOC129996359, LOC129996360, LOC129996361, LOC129996362, LOC129996363, LOC129996364, LOC129996365, LOC129996366, LOC129996367, LOC129996368, LOC129996369, LOC129996370, LOC129996371, LOC129996372, LOC129996373, LOC129996374, LOC129996375, LOC129996376, LOC129996377, LOC129996378, LOC129996379, LOC129996380, LOC129996381, LOC129996382, LOC129996383, LOC129996384, LOC129996385, LOC129996386, LOC129996387, LOC129996388, LOC129996389, LOC129996390, LOC129996391, LOC129996392, LOC129996393, LOC129996394, LOC129996395, LOC129996396, LOC129996397, LOC129996398, LOC129996399, LOC129996400, LOC129996401, LOC129996402, LOC129996403, LOC129996404, LOC129996405, LOC129996406, LOC129996407, LOC129996408, LOC129996409, LOC129996410, LOC129996411, LOC129996412, LOC129996413, LOC129996414, LOC129996415, LOC129996416, LOC129996417, LOC129996418, LOC129996419, LOC129996420, LOC129996421, LOC129996422, LOC129996423, LOC129996424, LOC129996425, LOC129996426, LOC129996427, LOC129996428, LOC129996429, LOC129996430, LOC129996431, LOC129996432, LOC129996433, LOC129996434, LOC129996435, LOC129996436, LOC129996437, LOC129996438, LOC129996439, LOC129996440, LOC129996441, LOC129996442, LOC129996443, LOC129996444, LOC129996445, LOC129996446, LOC129996447, LOC129996448, LOC129996449, LOC129996450, LOC129996451, LOC129996452, LOC129996453, LOC129996454, LOC129996455, LOC129996456, LOC129996457, LOC129996458, LOC129996459, LOC129996460, LOC129996461, LOC129996462, LOC129996463, LOC129996464, LOC129996465, LOC129996466, LOC129996467, LOC129996468, LOC129996469, LOC129996470, LOC129996471, LOC129996472, LOC129996473, LOC129996474, LOC129996475, LOC129996476, LOC129996477, LOC129996478, LOC129996479, LOC129996480, LOC129996481, LOC129996482, LOC129996483, LOC129996484, LOC129996485, LOC129996486, LOC129996487, LOC129996488, LOC129996489, LOC129996490, LOC129996491, LOC129996492, LOC129996493, LOC129996494, LOC129996495, LOC129996496, LOC129996497, LOC129996498, LOC129996499, LOC129996500, LOC129996501, LOC129996502, LOC129996503, LOC129996504, LOC129996505, LOC129996506, LOC129996507, LOC129996508, LOC129996509, LOC129996510, LOC129996511, LOC129996512, LOC129996513, LOC129996514, LOC129996515, LOC129996516, LOC129996517, LOC129996518, LOC129996519, LOC129996520, LOC129996521, LOC129996522, LOC129996523, LOC129996524, LOC129996525, LOC129996526, LOC129996527, LOC129996528, LOC129996529, LOC129996530, LOC129996531, LOC129996532, LOC129996533, LOC129996534, LOC129996535, LOC129996536, LOC129996537, LOC129996538, LOC129996539, LOC129996540, LOC129996541, LOC129996542, LOC129996543, LOC129996544, LOC129996545, LOC129996546, LOC129996547, LOC129996548, LOC129996549, LOC129996550, LOC129996551, LOC129996552, LOC129996553, LOC129996554, LOC129996555, LOC129996556, LOC129996557, LOC129996558, LOC129996559, LOC129996560, LOC129996561, LOC129996562, LOC129996563, LOC129996564, LOC129996565, LOC129996566, LOC129996567, LOC129996568, LOC129996569, LOC129996570, LOC129996571, LOC129996572, LOC129996573, LOC129996574, LOC129996575, LOC129996576, LOC129996577, LOC129996578, LOC132089384, LOC132089385, LOC132089386, LOC132089387, LOC132089388, LOC132089389, LOC132089390, LOC132089391, LOC132089392, LOC132089393, LOC132089394, LOC132089395, LOC132089396, LOC132089397, LOC132090754, 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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr6:41605799-46480686
GRCh38:
Chr6:41638061-46512949
LOC123620117, LOC123620118, LOC123620119, LOC123620120, LOC123620121, LOC123620122, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC123744813, LOC123744814, LOC126859675, LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC126859680, LOC126859681, LOC126859682, LOC129389516, LOC129389517, LOC129389518, LOC129389519, LOC129389520, LOC129389521, LOC129389522, LOC129389523, LOC129389524, LOC129389525, LOC129389526, LOC129389527, LOC129389528, LOC129996418, LOC129996419, LOC129996420, LOC129996421, LOC129996422, LOC129996423, LOC129996424, LOC129996425, LOC129996426, LOC129996427, LOC129996428, LOC129996429, LOC129996430, LOC129996431, LOC129996432, LOC129996433, LOC129996434, LOC129996435, LOC129996436, LOC129996437, LOC129996438, LOC129996439, LOC129996440, LOC129996441, LOC129996442, LOC129996443, LOC129996444, LOC129996445, LOC129996446, LOC129996447, LOC129996448, LOC129996449, LOC129996450, LOC129996451, LOC129996452, LOC129996453, LOC129996454, LOC129996455, LOC129996456, LOC129996457, LOC129996458, LOC129996459, LOC129996460, LOC129996461, LOC129996462, LOC129996463, LOC129996464, LOC129996465, LOC129996466, LOC129996467, LOC129996468, LOC129996469, LOC129996470, LOC129996471, LOC129996472, LOC129996473, LOC129996474, LOC129996475, LOC129996476, LOC129996477, LOC129996478, LOC129996479, LOC129996480, LOC129996481, LOC129996482, LOC129996483, LOC129996484, LOC129996485, LOC129996486, LOC129996487, LOC129996488, LOC129996489, LOC129996490, LOC129996491, LOC129996492, LOC129996493, LOC129996494, LOC129996495, LOC129996496, LOC129996497, LOC129996498, LOC129996499, LOC129996500, LOC129996501, LOC129996502, LOC129996503, LOC129996504, LOC129996505, LOC129996506, LOC129996507, LOC129996508, LOC129996509, LOC129996510, LOC129996511, LOC129996512, LOC129996513, LOC129996514, LOC129996515, LOC129996516, LOC129996517, LOC129996518, LOC129996519, LOC129996520, LOC129996521, LOC129996522, LOC129996523, LOC129996524, LOC129996525, LOC129996526, LOC129996527, LOC129996528, LOC129996529, LOC129996530, LOC129996531, LOC129996532, LOC129996533, LOC129996534, LOC129996535, LOC129996536, LOC129996537, LOC129996538, LOC129996539, LOC129996540, LOC129996541, LOC129996542, LOC129996543, LOC129996544, LOC129996545, LOC129996546, LOC129996547, LOC129996548, LOC129996549, LOC129996550, LOC129996551, LOC129996552, LOC129996553, LOC129996554, LOC129996555, LOC129996556, LOC129996557, LOC129996558, LOC129996559, LOC129996560, LOC129996561, LOC129996562, LOC129996563, LOC129996564, LOC129996565, LOC129996566, LOC129996567, LOC129996568, LOC129996569, LOC129996570, LOC129996571, LOC129996572, LOC129996573, LOC129996574, LOC129996575, LOC129996576, LOC129996577, LOC129996578, LOC129996579, LOC129996580, LOC129996581, LOC129996582, LOC129996583, LOC129996584, LOC129996585, LOC129996586, LOC129996587, LOC129996588, LOC129996589, LOC129996590, LOC132089385, LOC132089386, LOC132089387, LOC132089388, LOC132089389, LOC132089390, LOC132089391, LOC132089392, LOC132089393, LOC132089394, LOC132089395, LOC132089396, LOC132089397, 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, AARS2, ABCC10, BICRAL, BYSL, C6orf132, C6orf226, CAPN11, CCND3, CDC5L, CIMIP3, CLIC5, CNPY3, CNPY3-GNMT, CRIP3, CUL7, CUL9, DLK2, DNPH1, ENPP4, ENPP5, FRS3, GNMT, GTPBP2, GUCA1A, GUCA1ANB-GUCA1A, GUCA1B, HSP90AB1, KLC4, KLHDC3, LINC01512, LINC02537, LINC02976, LINC03040, LOC101926915, LOC105375075, LOC107986596, LOC109611589, LOC109611593, LOC110121112, LOC111721708, LOC111828528, LOC113175003, LOC113175004, LOC113175005, LOC116183061, LOC116183062, LOC116183063, LOC121132684, LOC121132685, LOC121132686
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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, LINC02976, LINC03040, LOC105375075, LOC107986596, LOC113175004, LOC113175005, LOC116183063, LOC121132684, LOC121132685, LOC123620120, LOC123620121, LOC123620122, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC129389517, LOC129389518, LOC129389519, LOC129389520, LOC129389521, LOC129389522, LOC129996451, LOC129996452, LOC129996453, LOC129996454, LOC129996455, LOC129996456, LOC129996457, LOC129996458, LOC129996459, LOC129996460, LOC129996461, LOC129996462, LOC129996463, LOC129996464, LOC129996465, LOC129996466, LOC129996467, LOC129996468, LOC129996469, LOC129996470, LOC129996471, LOC129996472, LOC129996473, LOC129996474, LOC129996475, LOC129996476, LOC129996477, LOC129996478, LOC129996479, LOC129996480, LOC129996481, LOC129996482, LOC129996483, LOC129996484, LOC129996485, LOC129996486, LOC129996487, LOC129996488, LOC129996489, LOC129996490, LOC129996491, LOC129996492, LOC129996493, LOC129996494, LOC129996495, LOC129996496, LOC129996497, LOC129996498, LOC129996499, LOC129996500, LOC129996501, LOC129996502, LOC129996503, LOC129996504, LOC129996505, LOC129996506, LOC129996507, LOC129996508, LOC129996509, LOC129996510, LOC129996511, LOC129996512, LOC129996513, LOC129996514, LOC129996515, LOC129996516, LOC129996517, LOC129996518, LOC129996519, LOC129996520, LOC129996521, LOC129996522, LOC129996523, LOC129996524, LOC129996525, LOC129996526, LOC129996527, LOC129996528, LOC129996529, LOC129996530, LOC129996531, LOC129996532, LOC129996533, LOC129996534, LOC129996535, LOC129996536, LOC129996537, LOC129996538, LOC129996539, LOC129996540, LOC129996541, LOC129996542, LOC129996543, LOC129996544, LOC129996545, LOC129996546, LOC129996547, LOC129996548, LOC129996549, LOC129996550, LOC129996551, LOC129996552, LOC129996553, LOC129996554, LOC129996555, LOC129996556, LOC129996557, LOC129996558, LOC129996559, LOC129996560, LOC129996561, LOC129996562, LOC129996563, LOC129996564, LOC129996565, LOC129996566, LOC129996567, LOC129996568, LOC129996569, LOC129996570, LOC129996571, LOC129996572, LOC129996573, LOC129996574, LOC132089385, LOC132089386, LOC132089387, LOC132089388, LOC132089389, LOC132089390, LOC132089391, LOC132089392, LOC132089393, LOC132089394, LOC132089395, LOC132089396, 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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr6:43624625-44350167
GRCh38:
Chr6:43656888-44382430
See casesLikely benign
(Sep 27, 2013)
no assertion criteria provided
6.
GRCh37:
Chr6:44266473
GRCh38:
Chr6:44298736
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr6:44266564
GRCh38:
Chr6:44298827
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr6:44266565
GRCh38:
Chr6:44298828
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Benign
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr6:44266574
GRCh38:
Chr6:44298837
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Benign
(Jan 12, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr6:44266578
GRCh38:
Chr6:44298841
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr6:44266648-44266649
GRCh38:
Chr6:44298911-44298912
AARS2, POLR1CCombined oxidative phosphorylation deficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr6:44266681
GRCh38:
Chr6:44298944
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr6:44266708
GRCh38:
Chr6:44298971
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Benign
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr6:44266735
GRCh38:
Chr6:44298998
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr6:44266748
GRCh38:
Chr6:44299011
POLR1C, AARS2Combined oxidative phosphorylation defect type 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr6:44266799
GRCh38:
Chr6:44299062
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr6:44266811
GRCh38:
Chr6:44299074
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Benign
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr6:44266811
GRCh38:
Chr6:44299074
AARS2, POLR1CCombined oxidative phosphorylation deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr6:44266813
GRCh38:
Chr6:44299076
POLR1C, AARS2Combined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr6:44266925
GRCh38:
Chr6:44299188
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Benign
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr6:44266958
GRCh38:
Chr6:44299221
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr6:44266974
GRCh38:
Chr6:44299237
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr6:44266984
GRCh38:
Chr6:44299247
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Benign
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr6:44266991
GRCh38:
Chr6:44299254
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr6:44266997-44267000
GRCh38:
Chr6:44299260-44299263
AARS2, POLR1CCombined oxidative phosphorylation deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr6:44267000
GRCh38:
Chr6:44299263
AARS2, POLR1CCombined oxidative phosphorylation deficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr6:44267032
GRCh38:
Chr6:44299295
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr6:44267087
GRCh38:
Chr6:44299350
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr6:44267171-44267172
GRCh38:
Chr6:44299434-44299435
AARS2, POLR1CCombined oxidative phosphorylation deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr6:44267239
GRCh38:
Chr6:44299502
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr6:44267277
GRCh38:
Chr6:44299540
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Likely benign
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr6:44267287
GRCh38:
Chr6:44299550
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr6:44267302
GRCh38:
Chr6:44299565
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr6:44267358
GRCh38:
Chr6:44299621
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Benign
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr6:44267531
GRCh38:
Chr6:44299794
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr6:44267532
GRCh38:
Chr6:44299795
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr6:44267566
GRCh38:
Chr6:44299829
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr6:44267601
GRCh38:
Chr6:44299864
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr6:44267650-44267651
GRCh38:
Chr6:44299913-44299914
AARS2, POLR1CCombined oxidative phosphorylation deficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr6:44267657
GRCh38:
Chr6:44299920
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr6:44267728-44267729
GRCh38:
Chr6:44299991-44299992
AARS2, POLR1CCombined oxidative phosphorylation deficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr6:44267836
GRCh38:
Chr6:44300099
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr6:44267861
GRCh38:
Chr6:44300124
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Benign
(Jan 12, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr6:44267876
GRCh38:
Chr6:44300139
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr6:44267890
GRCh38:
Chr6:44300153
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr6:44267918
GRCh38:
Chr6:44300181
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Benign
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr6:44267941
GRCh38:
Chr6:44300204
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Benign
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr6:44267943
GRCh38:
Chr6:44300206
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Benign
(Jan 12, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr6:44267967
GRCh38:
Chr6:44300230
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr6:44268005
GRCh38:
Chr6:44300268
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr6:44268022
GRCh38:
Chr6:44300285
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr6:44268028
GRCh38:
Chr6:44300291
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr6:44268129
GRCh38:
Chr6:44300392
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr6:44268135
GRCh38:
Chr6:44300398
AARS2, POLR1Cnot providedBenign
(Jun 23, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr6:44268233
GRCh38:
Chr6:44300496
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr6:44268275
GRCh38:
Chr6:44300538
AARS2, POLR1CCombined oxidative phosphorylation defect type 8, not providedConflicting interpretations of pathogenicity
(Jan 27, 2021)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr6:44268290
GRCh38:
Chr6:44300553
POLR1C, AARS2Q984Hnot providedBenign/Likely benign
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr6:44268305
GRCh38:
Chr6:44300568
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr6:44268334
GRCh38:
Chr6:44300597
AARS2, POLR1Cnot providedLikely benign
(Jul 22, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr6:44268337
GRCh38:
Chr6:44300600
AARS2, POLR1CD969Ynot providedConflicting interpretations of pathogenicity
(Sep 1, 2022)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr6:44268349
GRCh38:
Chr6:44300612
POLR1C, AARS2G965Rnot providedUncertain significance
(Aug 9, 2019)
criteria provided, single submitter
62.
GRCh37:
Chr6:44268350
GRCh38:
Chr6:44300613
AARS2, POLR1Cnot providedLikely benign
(Oct 17, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr6:44268358
GRCh38:
Chr6:44300621
AARS2, POLR1CQ962*Combined oxidative phosphorylation defect type 8Pathogenic
(Jan 24, 2019)
criteria provided, single submitter
64.
GRCh37:
Chr6:44268370
GRCh38:
Chr6:44300633
AARS2, POLR1CR958*Inborn genetic diseasesLikely pathogenic
(Apr 15, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr6:44268371
GRCh38:
Chr6:44300634
AARS2, POLR1Cnot provided, Combined oxidative phosphorylation defect type 8, Leukoencephalopathy, progressive, with ovarian failure
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr6:44268371
GRCh38:
Chr6:44300634
AARS2, POLR1Cnot specifiedBenign
(Apr 11, 2012)
criteria provided, single submitter
67.
GRCh37:
Chr6:44268381
GRCh38:
Chr6:44300644
AARS2, POLR1CA954VInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Mar 22, 2023)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr6:44268382
GRCh38:
Chr6:44300645
AARS2, POLR1CA954TCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr6:44268392
GRCh38:
Chr6:44300655
AARS2, POLR1CM950Inot providedUncertain significance
(May 9, 2017)
criteria provided, single submitter
70.
GRCh37:
Chr6:44268412
GRCh38:
Chr6:44300675
AARS2, POLR1Cnot providedLikely benign
(Sep 15, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr6:44268430
GRCh38:
Chr6:44300693
AARS2, POLR1CT938Pnot providedUncertain significance
(Sep 9, 2013)
criteria provided, single submitter
72.
GRCh37:
Chr6:44268448
GRCh38:
Chr6:44300711
AARS2, POLR1CG932Snot provided, Combined oxidative phosphorylation defect type 8Uncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr6:44268591
GRCh38:
Chr6:44300854
AARS2, POLR1Cnot providedLikely benign
(Jun 14, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr6:44268702
GRCh38:
Chr6:44300965
AARS2, POLR1Cnot providedLikely benign
(Jun 16, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr6:44268788
GRCh38:
Chr6:44301051
AARS2, POLR1Cnot providedLikely benign
(Jun 16, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr6:44268806-44268807
GRCh38:
Chr6:44301069-44301070
AARS2, POLR1CLeukoencephalopathy, progressive, with ovarian failure, Combined oxidative phosphorylation defect type 8, not provided
Benign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr6:44268873
GRCh38:
Chr6:44301136
AARS2, POLR1Cnot providedLikely benign
(Sep 6, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr6:44268903
GRCh38:
Chr6:44301166
AARS2, POLR1CQ928RInborn genetic diseasesUncertain significance
(Oct 21, 2020)
criteria provided, single submitter
79.
GRCh37:
Chr6:44268931-44268958
GRCh38:
Chr6:44301194-44301221
AARS2, POLR1CT910fsnot providedConflicting interpretations of pathogenicity
(Aug 23, 2022)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr6:44268956
GRCh38:
Chr6:44301219
POLR1C, AARS2not providedLikely benign
(May 27, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr6:44268957
GRCh38:
Chr6:44301220
POLR1C, AARS2T910Mnot providedUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr6:44268957
GRCh38:
Chr6:44301220
AARS2, POLR1CT910Rnot providedUncertain significance
(Mar 22, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr6:44268964
GRCh38:
Chr6:44301227
AARS2, POLR1CP908SInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Feb 3, 2022)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr6:44268968
GRCh38:
Chr6:44301231
AARS2, POLR1CQ906Hnot providedUncertain significance
(Jul 24, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr6:44268984
GRCh38:
Chr6:44301247
AARS2, POLR1CR901Qnot providedUncertain significance
(Mar 29, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr6:44268985
GRCh38:
Chr6:44301248
AARS2, POLR1CR901GCombined oxidative phosphorylation defect type 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr6:44268985
GRCh38:
Chr6:44301248
AARS2, POLR1CR901WCombined oxidative phosphorylation defect type 8, not providedConflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr6:44269004
GRCh38:
Chr6:44301267
AARS2, POLR1CCombined oxidative phosphorylation defect type 8Uncertain significance
(Dec 13, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr6:44269012
GRCh38:
Chr6:44301275
AARS2, POLR1Cnot providedLikely benign
(Mar 16, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr6:44269013
GRCh38:
Chr6:44301276
POLR1C, AARS2Combined oxidative phosphorylation defect type 8, not providedConflicting interpretations of pathogenicity
(Oct 5, 2022)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr6:44269023-44269024
GRCh38:
Chr6:44301286-44301287
AARS2, POLR1Cnot providedUncertain significance
(Oct 1, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr6:44269023
GRCh38:
Chr6:44301286
AARS2, POLR1Cnot provided, Combined oxidative phosphorylation defect type 8, Leukoencephalopathy, progressive, with ovarian failure
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr6:44269048
GRCh38:
Chr6:44301311
AARS2, POLR1Cnot providedLikely benign
(Jul 9, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr6:44269087
GRCh38:
Chr6:44301350
AARS2, POLR1Cnot providedLikely benign
(Jul 9, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr6:44269091
GRCh38:
Chr6:44301354
AARS2, POLR1Cnot providedLikely benign
(Dec 25, 2019)
criteria provided, single submitter
96.
GRCh37:
Chr6:44269100
GRCh38:
Chr6:44301363
AARS2, POLR1Cnot provided, not specifiedLikely benign
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr6:44269108
GRCh38:
Chr6:44301371
AARS2, POLR1Cnot providedLikely benign
(Sep 16, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr6:44269113
GRCh38:
Chr6:44301376
AARS2, POLR1CSee casesUncertain significancecriteria provided, single submitter
99.
GRCh37:
Chr6:44269119
GRCh38:
Chr6:44301382
POLR1C, AARS2S894*not providedPathogenic
(Feb 10, 2014)
criteria provided, single submitter
100.
GRCh37:
Chr6:44269121
GRCh38:
Chr6:44301384
AARS2, POLR1Cnot provided, Combined oxidative phosphorylation defect type 8Conflicting interpretations of pathogenicity
(May 27, 2022)
criteria provided, conflicting interpretations
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