| - GRCh37:
- Chr5:22149-73708550
- GRCh38:
- Chr5:22149-74412725
| LOC123497907, LOC123497908, LOC123497909, LOC126807300, LOC126807301, LOC126807323, LOC126807324, LOC126807348, LOC126807349, LOC126807350, LOC126807351, LOC126807352, LOC126807378, LOC126807404, LOC126807405, LOC128772264, LOC129389254, LOC129389283, LOC129389284, LOC129993540, LOC129993541, LOC129993569, LOC129993570, LOC129993571, LOC129993596, LOC129993597, LOC129993598, LOC129993621, LOC129993622, LOC129993623, LOC129993652, LOC129993653, LOC129993681, LOC129993682, LOC129993708, LOC129993737, LOC129993765, LOC129993766, LOC129993767, LOC129993788, LOC129993789, LOC129993790, LOC129993791, LOC129993792, LOC129993656, LOC129993657, LOC129993683, LOC129993684, LOC129993685, LOC129993626, LOC129993627, LOC129993628, LOC129993686, LOC129993687, LOC129993688, LOC129993709, LOC129993710, LOC129993711, LOC129993712, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993713, LOC129993714, LOC129993599, LOC129993624, LOC129993625, LOC129993600, LOC129993601, LOC129993602, LOC129389255, LOC129389256, LOC129389257, LOC129389258, LOC129993738, LOC129993739, LOC129389285, LOC129389286, LOC129389287, LOC126807382, LOC126807383, LOC126807384, LOC129389259, LOC129389260, LOC129389261, LOC129993740, LOC129993741, LOC129993742, LOC129993542, LOC129993543, LOC129389288, LOC126807353, LOC126807379, LOC126807380, LOC126807381, LOC129993544, LOC129993545, LOC129993546, LOC126807303, LOC129993654, LOC129993655, LOC124901163, LOC124901178, LOC126807280, LOC126807354, LOC126807355, LOC126807356, LOC126807302, LOC126807406, LOC126807407, LOC126807408, LOC126807409, LOC126807281, LOC126807282, LOC126807325, LOC126807326, LOC126807327, LOC123493314, LOC123493315, LOC123493316, LOC123493317, LOC123493318, LOC123493319, LOC126807283, LOC126807304, LOC126807305, LOC126807328, LOC126807329, LOC126807330, LOC126807357, LOC126807358, LOC126807359, LOC126807360, LOC126807385, LOC126807386, LOC126807410, LOC126807411, LOC129389262, LOC129389263, LOC129389264, LOC129389289, LOC129389290, LOC129993547, LOC129993548, LOC129993549, LOC129993577, LOC129993578, LOC129993579, LOC129993603, LOC129993604, LOC129993605, LOC129993629, LOC129993630, LOC129993631, LOC129993632, LOC129993658, LOC129993659, LOC129993689, LOC129993690, LOC129993691, LOC129993715, LOC129993716, LOC129993717, LOC129993718, LOC129993743, LOC129993744, LOC129993745, LOC129993768, LOC129993769, LOC129993770, LOC129993793, LOC129993794, LOC129993795, LOC129993799, LOC129993800, LOC129993801, LOC129993802, LOC129993771, LOC129993772, LOC129993773, LOC129993774, LOC129993782, LOC129993783, LOC129993784, LOC129993787, LOC129993775, LOC129993776, LOC129993777, LOC129993778, LOC129993779, LOC129993780, LOC129993781, LOC129993785, LOC129993786, LOC129993746, LOC129993747, LOC129993748, LOC129993749, LOC129993750, LOC129993751, LOC129993752, LOC129993755, LOC129993756, LOC129993753, LOC129993754, LOC129993757, LOC129993758, LOC129993759, LOC129993760, LOC129993761, LOC129993723, LOC129993724, LOC129993725, LOC129993726, LOC129993719, LOC129993720, LOC129993721, LOC129993722, LOC129993730, LOC129993731, LOC129993732, LOC129993733, LOC129993734, LOC129993735, LOC129993736, LOC129993762, LOC129993763, LOC129993764, LOC129993698, LOC129993699, LOC129993700, LOC129993701, LOC129993702, LOC129993703, LOC129993692, LOC129993693, LOC129993694, LOC129993695, LOC129993796, LOC129993797, LOC129993798, LOC129993727, LOC129993728, LOC129993729, LOC129993696, LOC129993697, LOC129993671, LOC129993672, LOC129993673, LOC129993674, LOC129993675, LOC129993704, LOC129993705, LOC129993706, LOC129993707, LOC129993660, LOC129993661, LOC129993662, LOC129993663, LOC129993664, LOC129993676, LOC129993677, LOC129993678, LOC129993679, LOC129993680, LOC129993665, LOC129993666, LOC129993667, LOC129993668, LOC129993669, LOC129993670, LOC129993641, LOC129993642, LOC129993643, LOC129993644, LOC129993645, LOC129993650, LOC129993651, LOC129993633, LOC129993634, LOC129993635, LOC129993636, LOC129993637, LOC129993638, LOC129993639, LOC129993640, LOC129993646, LOC129993647, LOC129993610, LOC129993611, LOC129993616, LOC129993617, LOC129993618, LOC129993608, LOC129993609, LOC129993612, LOC129993613, LOC129993614, LOC129993615, LOC129993606, LOC129993607, LOC129993587, LOC129993588, LOC129993589, LOC129993590, LOC129993591, LOC129993592, LOC129993585, LOC129993586, LOC129993593, LOC129993594, LOC129993595, LOC129993619, LOC129993620, LOC129993648, LOC129993649, LOC129993580, LOC129993566, LOC129993567, LOC129993568, LOC129993555, LOC129993556, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993557, LOC129993558, LOC129993559, LOC129389293, LOC129389294, LOC129389296, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129389299, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129389297, LOC129389298, LOC129389265, LOC129389266, LOC129389267, LOC129389268, LOC129389269, LOC129389270, LOC129993532, LOC129993533, LOC129389275, LOC129389276, LOC129389277, LOC129389278, LOC129389271, LOC129389272, LOC129389273, LOC129389274, LOC129389279, LOC129389280, LOC129389281, LOC129389282, LOC126807412, LOC126807413, LOC126807414, LOC126807421, LOC127402905, LOC128462395, LOC128667222, LOC128772262, LOC126807415, LOC126807416, LOC126807417, LOC126807418, LOC126807419, LOC126807420, LOC126807402, LOC126807403, LOC128772263, LOC126807387, LOC126807388, LOC126807389, LOC126807390, LOC126807391, LOC126807392, LOC126807393, LOC126807397, LOC126807398, LOC126807399, LOC126807400, LOC126807401, LOC129389291, LOC129389292, LOC126807394, LOC126807395, LOC126807362, LOC126807363, LOC126807364, LOC126807372, LOC126807373, LOC126807374, LOC126807366, LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807375, LOC126807376, LOC126807377, LOC126807365, LOC126807371, LOC126807396, LOC126807361, LOC126807344, LOC126807345, LOC126807335, LOC126807336, LOC126807337, LOC126807338, LOC126807339, LOC126807340, LOC126807341, LOC126807346, LOC126807347, LOC126807331, LOC126807332, LOC126807333, LOC126807334, LOC126807342, LOC126807343, LOC126807312, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC126807321, LOC126807322, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807313, LOC126807314, LOC126807315, LOC126807295, LOC126807296, LOC126807297, LOC126807289, LOC126807290, LOC126807298, LOC126807299, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC123493324, LOC123493325, LOC123493326, LOC123493330, LOC123493331, LOC123493320, LOC123493321, LOC123493327, LOC123493329, LOC123493322, LOC123493323, LOC123493332, LOC123493333, LOC123493334, LOC123493335, LOC123497905, LOC123497906, LOC123493308, LOC123493309, LOC123493310, LOC123493311, LOC123493312, LOC123493313, LOC129993803, LOC129993804, LOC129993805, LOC129993806, LOC129993807, LOC129993808, LOC129993809, LOC129993810, LOC129993811, LOC129993812, LOC129993813, LOC129993814, LOC129993815, LOC129993816, LOC129993817, LOC129993818, LOC129993819, LOC129993820, LOC129993821, LOC129993822, LOC129993823, LOC129993824, LOC129993825, LOC129993826, LOC129993827, LOC129993828, LOC129993829, LOC129993830, LOC129993831, LOC129993832, LOC129993833, LOC129993834, LOC129993835, LOC129993836, LOC129993837, LOC129993838, LOC129993839, LOC129993840, LOC129993841, LOC129993842, LOC129993843, LOC129993844, LOC129993845, LOC129993846, LOC129993847, LOC129993848, LOC129993849, LOC129993850, LOC129993851, LOC129993852, LOC129993853, LOC129993854, LOC129993855, LOC129993856, LOC129993857, LOC129993858, LOC129993859, LOC129993860, LOC129993861, LOC129993862, LOC129993863, LOC129993864, LOC129993865, LOC129993866, LOC129993867, LOC129993868, LOC129993869, LOC129993870, LOC129993871, LOC129993872, LOC129993873, LOC129993874, LOC129993875, LOC129993876, LOC129993877, LOC129993878, LOC129993879, LOC129993880, LOC129993881, LOC129993882, LOC129993883, LOC129993884, LOC129993885, LOC129993886, LOC129993887, LOC129993888, LOC129993889, LOC129993890, LOC129993891, LOC129993892, LOC129993893, LOC129993894, LOC129993895, LOC129993896, LOC129993897, LOC129993898, LOC129993899, LOC129993900, LOC129993901, LOC129993902, LOC129993903, LOC129993904, LOC129993905, LOC129993906, LOC129993907, LOC129993908, LOC129993909, LOC129993910, LOC129993911, LOC129993912, LOC129993913, LOC129993914, LOC129993915, LOC129993916, LOC129993917, LOC129993918, LOC129993919, LOC129993920, LOC129993921, LOC129993922, LOC129993923, LOC129993924, LOC129993925, LOC129993926, LOC129993927, LOC129993928, LOC129993929, LOC129993930, LOC129993931, LOC129993932, LOC129993933, LOC129993934, LOC129993935, LOC129993936, LOC129993937, LOC129993938, LOC129993939, LOC129993940, LOC129993941, LOC129993942, LOC129993943, LOC129993944, LOC129993945, LOC129993946, LOC129993947, LOC129993948, LOC129993949, LOC129993950, LOC129993951, LOC129993952, LOC129993953, LOC129993954, LOC129993955, LOC129993956, LOC129993957, LOC129993958, LOC129993959, LOC129993960, LOC129993961, LOC129993962, LOC129993963, LOC129993964, LOC129993965, LOC129993966, LOC129993967, LOC129993968, LOC129993969, LOC129993970, LOC129993971, LOC129993972, LOC129993973, LOC129993974, LOC129993975, LOC129993976, LOC129993977, LOC129993978, LOC129993979, LOC129993980, LOC129993981, LOC129993982, LOC129993983, LOC129993984, LOC129993985, LOC129993986, LOC129993987, LOC129993988, LOC129993989, LOC129993990, LOC129993991, LOC129993992, LOC129993993, LOC129993994, LOC129993995, LOC129993996, LOC129993997, LOC129993998, LOC129993999, LOC129994000, LOC129994001, LOC129994002, LOC129994003, LOC129994004, LOC129994005, LOC129994006, LOC129994007, LOC129994008, LOC129994009, LOC129994010, LOC129994011, LOC129994012, LOC129994013, LOC129994014, LOC129994015, LOC129994016, LOC129994017, LOC129994018, LOC129994019, LOC129994020, LOC129994021, LOC129994022, LOC129994023, LOC129994024, LOC129994025, LOC129994026, LOC129994027, LOC129994028, LOC129994029, LOC129994030, LOC129994031, LOC129994032, LOC129994033, LOC129994034, LOC129994035, LOC129994036, LOC129994037, LOC129994038, LOC129994039, LOC129994040, LOC129994041, LOC129994042, LOC129994043, LOC129994044, LOC129994045, LOC129994046, LOC129994047, LOC129994048, LOC129994049, LOC132089161, LOC132089229, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089238, LOC132089239, LOC132089240, LOC132089241, LOC132089242, LOC132089243, LOC132089244, LOC132089245, LOC132089246, LOC132089247, LOC132089248, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089254, LOC132089255, LOC132089256, LOC132089257, LOC132089258, LOC132089259, LOC132089260, LOC132089261, LOC132089262, LOC132089263, LOC132089264, LOC132089265, LOC132089266, LOC132089267, LOC132089268, LOC132089269, LOC132089270, LOC132089271, LOC132089272, LOC132089273, LOC132089274, LOC132089275, LOC132089276, LOC132089277, LOC132089278, LOC132089279, LOC132089280, LOC132089281, LOC132089282, LOC132089283, LOC132089284, LOC132089285, LOC132089286, LOC132089287, LOC132089288, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132090727, LOC132090728, LOC132090729, LOC132090730, LOC132090731, LOC132205959, LOC132205960, LOC340090, LPCAT1, LRRC14B, LRRC70, LSINCT5, MAP1B, MAP3K1, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, MARVELD2, MAST4, MAST4-AS1, MCCC2, MCIDAS, MED10, MIER3, MIR10397, MIR10522, MIR3650, MIR4277, MIR4278, MIR4279, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR449A, MIR449B, MIR449C, MIR4635, MIR4636, MIR4637, MIR4803, MIR4804, MIR548AE2, MIR5687, MIR579, MIR580, MIR581, MIR582, MIR6075, MIR6131, MIR887, MNS16A, MOCS2, MOCS2-DT, MROH2B, MRPL36, MRPS27, MRPS30, MRPS30-DT, MTMR12, MTREX, MTRR, MYO10, NADK2, NADK2-AS1, NAIP, NDUFAF2, NDUFS4, NDUFS6, NIM1K, NIPBL, NIPBL-DT, NKD2, NLN, NNT, NNT-AS1, NPR3, NSUN2, NUP155, OCLN, OSMR, OSMR-DT, OTULIN, OTULIN-DT, OTULINL, OXCT1, OXCT1-AS1, PAIP1, PARP8, PART1, PDCD6, PDCD6-AHRR, PDCD6-DT, PDE4D, PDZD2, PELO, PELO-AS1, PIK3R1, PLCXD3, PLEKHG4B, PLK2, PLPP1, PPWD1, PRDM9, PRKAA1, PRLR, PTCD2, PTGER4, PURPL, RAB3C, RAD1, RAD17, RAI14, RAI14-DT, RANBP3L, RETREG1, RETREG1-AS1, RGS7BP, RICTOR, RIMOC1, RMEL3, RNF180, ROPN1L, ROPN1L-AS1, RPL37, RXFP3, SDHA, SELENOP, SEMA5A, SEMA5A-AS1, SERF1A, SERF1B, SETD9, SGTB, SHISAL2B, SHLD3, SKP2, SLC12A7, SLC1A3, SLC30A5, SLC38A9, SLC45A2, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SMIM15, SMIM15-AS1, SMN-AS1, SMN1, SMN2, SNHG18, SNORA105A, SNORA50D, SNORD123, SNORD13B-1, SNORD13B-2, SNORD141B, SNORD170, SNORD72, SNX18, SPEF2, SRD5A1, SREK1, SREK1IP1, SUB1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAF9, TARS1, TAS2R1, TENT4A, TERLR1, TERT, TILRLS, TMEM171, TMEM174, TMEM267, TNPO1, TNPO1-DT, TPPP, TRAPPC13, TRIM23, TRIO, TRIP13, TRK-CTT9-1, TTC23L, TTC23L-AS1, TTC33, UBE2QL1, UGT3A1, UGT3A2, UTP15, WDR70, ZDHHC11, ZDHHC11B, ZFR, ZNF131, ZNF366, ZNF622, ZSWIM6, ACTBL2, ADAMTS12, ADAMTS16, ADAMTS16-DT, ADAMTS6, ADCY2, AGXT2, AHRR, AK6, AMACR, ANKH, ANKRA2, ANKRD33B, ANKRD55, ANXA2R, ANXA2R-AS1, ANXA2R-OT1, ARHGEF28, ARL15, ATPSCKMT, BASP1, BASP1-AS1, BDP1, BRD9, BRIX1, BTF3, BTF3-DT, C1QTNF3, C1QTNF3-AMACR, C5orf22, C5orf34, C5orf34-AS1, C5orf67, C6, C7, C9, CAPSL, CAPSL-DT, CARD6, CARTPT, CCDC125, CCDC127, CCDC152, CCL28, CCNB1, CCNO, CCNO-DT, CCT5, CD180, CDC20B, CDH10, CDH12, CDH18, CDH18-AS1, CDH6, CDH9, CDK7, CENPH, CENPK, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CPLANE1, CPLANE1-AS1, CREST1, CREST2, CREST3, CTD-2154B17.1, CTD-2194D22.4, CTD-2350J17.1, CTNND2, CWC27, DAB2, DAP, DAP-DT, DDX4, DEPDC1B, DHX29, DIMT1, DNAH5, DNAJC21, DROSHA, EGFLAM, EGFLAM-AS1, EGFLAM-AS2, EGFLAM-AS4, ELOVL7, EMB, ERBIN, ERCC8, ERCC8-AS1, ESM1, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, FBXO4, FCHO2, FCHO2-DT, FGF10, FGF10-AS1, FGF10-INT1, FLJ32255, FOXD1, FST, FYB1, GAPT, GDNF, GDNF-AS1, GHR, GOLPH3, GPBP1, GPX8, GTF2H2, GTF2H2C, GZMA, GZMK, H3Y1, H3Y2, HCN1, HMGCS1, HSPB3, HTR1A, ICE1, IL31RA, IL6ST, IL6ST-DT, IL7R, IPO11, IPO11-LRRC70, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, ISL1, ISL1-DT, ITGA1, ITGA2, ITGA2-AS1, KGD4, KIF2A, LIFR, LIFR-AS1, LINC00603, LINC00604, LINC01017, LINC01018, LINC01019, LINC01020, LINC01033, LINC01157, LINC01194, LINC01265, LINC01331, LINC01333, LINC01335, LINC01377, LINC01386, LINC01511, LINC01948, LINC02057, LINC02061, LINC02063, LINC02064, LINC02065, LINC02101, LINC02102, LINC02103, LINC02104, LINC02105, LINC02106, LINC02107, LINC02108, LINC02109, LINC02110, LINC02111, LINC02112, LINC02114, LINC02116, LINC02118, LINC02119, LINC02120, LINC02121, LINC02122, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02160, LINC02162, LINC02197, LINC02198, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02219, LINC02220, LINC02221, LINC02223, LINC02224, LINC02225, LINC02226, LINC02228, LINC02229, LINC02230, LINC02236, LINC02239, LINC02241, LINC02242, LINC02899, LINC02982, LINC02996, LINC02997, LINC02998, LINC03122, LINC03123, LMBRD2, LNCBRM, LOC100130744, LOC100132356, LOC100506639, LOC100506858, LOC101928505, LOC101928651, LOC101928924, LOC101929645, LOC102467081, LOC102503427, LOC105374618, LOC105374620, LOC105374629, LOC105374642, LOC105374645, LOC105374647, LOC105374655, LOC105374704, LOC105374715, LOC105374748, LOC105378979, LOC105378997, LOC105379030, LOC106029242, LOC107457585, LOC107758904, LOC107963949, LOC107963950, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC108281130, LOC108281172, LOC108348025, LOC109286569, LOC110120635, LOC110120690, LOC110120695, LOC110120697, LOC110120712, LOC110120713, LOC110120722, LOC110120760, LOC110121020, LOC110121055, LOC110121060, LOC110121170, LOC110806263, LOC110806264, LOC111089946, LOC111365172, LOC111365215, LOC111501791, LOC111556106, LOC111556114, LOC111556121, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997588, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC112997593, LOC112997594, LOC112997595, LOC112997596, LOC113002585, LOC113002586, LOC113002587, LOC113002588, LOC113002589, LOC113002590, LOC113002591, LOC114004392, LOC114004393, LOC114004394, LOC114803477, LOC114827820, LOC114827841, LOC116158511, LOC116158512, LOC116158513, LOC116158514, LOC116158515, LOC116158516, LOC116158517, LOC116158518, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121056762, LOC121056763, LOC121056764, LOC121056765, LOC121056766, LOC121079939, LOC121079940, LOC121079941, LOC121079942, LOC121079943, LOC121079944, LOC121079945, LOC121725197, LOC121725198, LOC121725199, LOC121725200, LOC121725201, LOC121725202, LOC121725203, LOC121725204, LOC121725205, LOC121725206, LOC121725207, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC123493278, LOC123493279, LOC123493280, LOC123493281, LOC123493282, LOC123493283, LOC123493284, LOC123493285, LOC123493286, LOC123493287, LOC123493288, LOC123493289, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC123493304, LOC123493305, LOC123493306, LOC123493307 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:35201661-61198968
- GRCh38:
- Chr5:35201559-61903141
| ACTBL2, ANKRD55, ANXA2R, ANXA2R-AS1, ANXA2R-OT1, ARL15, C5orf34, C5orf34-AS1, C5orf67, C6, C7, C9, CAPSL, CAPSL-DT, CARD6, CCDC152, CCL28, CCNO, CCNO-DT, CDC20B, CPLANE1, CPLANE1-AS1, CREST1, CREST2, CREST3, DAB2, DDX4, DEPDC1B, DHX29, EGFLAM, EGFLAM-AS1, EGFLAM-AS2, EGFLAM-AS4, ELOVL7, EMB, ERCC8, ERCC8-AS1, ESM1, FBXO4, FGF10, FGF10-AS1, FGF10-INT1, FLJ32255, FST, FYB1, GAPT, GDNF, GDNF-AS1, GHR, GPBP1, GPX8, GZMA, GZMK, HCN1, HMGCS1, HSPB3, IL31RA, IL6ST, IL6ST-DT, IL7R, ISL1, ISL1-DT, ITGA1, ITGA2, ITGA2-AS1, LIFR, LIFR-AS1, LINC00603, LINC00604, LINC01033, LINC01265, LINC01948, LINC02057, LINC02101, LINC02104, LINC02105, LINC02106, LINC02107, LINC02108, LINC02110, LINC02118, LINC02119, LINC02224, LINC02225, LINC02996, LINC02998, LINC03122, LINC03123, LMBRD2, LNCBRM, LOC100132356, LOC100506639, LOC101928505, LOC101928651, LOC102467081, LOC105374748, LOC105378979, LOC105378997, LOC106029242, LOC107963949, LOC107963950, LOC108281172, LOC108348025, LOC109286569, LOC110120690, LOC110120697, LOC110120712, LOC110121020, LOC110121055, LOC110121170, LOC111365172, LOC111365215, LOC111501791, LOC111556114, LOC111556121, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC112997594, LOC112997595, LOC112997596, LOC113002585, LOC114004392, LOC114004393, LOC114004394, LOC116158513, LOC116158514, LOC116158515, LOC116158516, LOC116158517, LOC121056762, LOC121056763, LOC121056764, LOC121056765, LOC121056766, LOC121725201, LOC121725202, LOC121725203, LOC121725204, LOC123493287, LOC123493288, LOC123493289, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC123493304, LOC123493305, LOC123493306, LOC123493307, LOC123493308, LOC123493309, LOC123493310, LOC123493311, LOC123493312, LOC123493313, LOC123493314, LOC123493315, LOC123493316, LOC123493317, LOC123493318, LOC123493319, LOC123493320, LOC123493321, LOC123493322, LOC126807357, LOC126807358, LOC126807359, LOC126807360, LOC126807361, LOC126807362, LOC126807363, LOC126807364, LOC126807365, LOC126807366, LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807371, LOC126807372, LOC126807373, LOC126807374, LOC126807375, LOC126807376, LOC126807377, LOC126807378, LOC126807379, LOC126807380, LOC126807381, LOC126807382, LOC126807383, LOC126807384, LOC126807385, LOC126807386, LOC126807387, LOC126807388, LOC126807389, LOC126807390, LOC126807391, LOC126807392, LOC126807393, LOC126807394, LOC126807395, LOC126807396, LOC126807397, LOC126807398, LOC126807399, LOC126807400, LOC126807401, LOC126807402, LOC126807403, LOC126807404, LOC126807405, LOC126807406, LOC126807407, LOC127402905, LOC128462395, LOC128667222, LOC129389272, LOC129389273, LOC129389274, LOC129389275, LOC129389276, LOC129389277, LOC129389278, LOC129389279, LOC129389280, LOC129389281, LOC129389282, LOC129389283, LOC129389284, LOC129389285, LOC129389286, LOC129389287, LOC129389288, LOC129389289, LOC129389290, LOC129993794, LOC129993795, LOC129993796, LOC129993797, LOC129993798, LOC129993799, LOC129993800, LOC129993801, LOC129993802, LOC129993803, LOC129993804, LOC129993805, LOC129993806, LOC129993807, LOC129993808, LOC129993809, LOC129993810, LOC129993811, LOC129993812, LOC129993813, LOC129993814, LOC129993815, LOC129993816, LOC129993817, LOC129993818, LOC129993819, LOC129993820, LOC129993821, LOC129993822, LOC129993823, LOC129993824, LOC129993825, LOC129993826, LOC129993827, LOC129993828, LOC129993829, LOC129993830, LOC129993831, LOC129993832, LOC129993833, LOC129993834, LOC129993835, LOC129993836, LOC129993837, LOC129993838, LOC129993839, LOC129993840, LOC129993841, LOC129993842, LOC129993843, LOC129993844, LOC129993845, LOC129993846, LOC129993847, LOC129993848, LOC129993849, LOC129993850, LOC129993851, LOC129993852, LOC129993853, LOC129993854, LOC129993855, LOC129993856, LOC129993857, LOC129993858, LOC129993859, LOC129993860, LOC129993861, LOC129993862, LOC129993863, LOC129993864, LOC129993865, LOC129993866, LOC129993867, LOC129993868, LOC129993869, LOC129993870, LOC129993871, LOC129993872, LOC129993873, LOC129993874, LOC129993875, LOC129993876, LOC129993877, LOC129993878, LOC129993879, LOC129993880, LOC129993881, LOC129993882, LOC129993883, LOC129993884, LOC129993885, LOC129993886, LOC129993887, LOC129993888, LOC129993889, LOC129993890, LOC129993891, LOC129993892, LOC129993893, LOC129993894, LOC129993895, LOC129993896, LOC129993897, LOC129993898, LOC129993899, LOC129993900, LOC129993901, LOC129993902, LOC129993903, LOC129993904, LOC129993905, LOC129993906, LOC129993907, LOC129993908, LOC129993909, LOC129993910, LOC129993911, LOC129993912, LOC129993913, LOC129993914, LOC129993915, LOC129993916, LOC129993917, LOC129993918, LOC129993919, LOC129993920, LOC129993921, LOC129993922, LOC129993923, LOC129993924, LOC129993925, LOC129993926, LOC129993927, LOC129993928, LOC129993929, LOC129993930, LOC129993931, LOC129993932, LOC129993933, LOC129993934, LOC129993935, LOC129993936, LOC129993937, LOC129993938, LOC129993939, LOC129993940, LOC129993941, LOC129993942, LOC129993943, LOC129993944, LOC129993945, LOC129993946, LOC129993947, LOC129993948, LOC129993949, LOC129993950, LOC129993951, LOC129993952, LOC129993953, LOC129993954, LOC129993955, LOC129993956, LOC129993957, LOC132089244, LOC132089245, LOC132089246, LOC132089247, LOC132089248, LOC132089254, LOC132089255, LOC132089256, LOC132089257, LOC132089258, LOC132089259, LOC132089260, LOC132089261, LOC132089262, LOC132089263, LOC132089264, LOC132089265, LOC132089266, LOC132089267, LOC132089268, LOC132089269, LOC132089270, LOC132089271, LOC132089276, LOC132089277, LOC132089278, LOC132089279, LOC132089280, LOC132089281, LOC132089282, LOC132089283, LOC132089284, LOC132089285, LOC132089286, LOC132089287, LOC132089288, LOC132090728, LOC132090729, LOC132090730, LOC132090731, MAP3K1, MCIDAS, MIER3, MIR3650, MIR449A, MIR449B, MIR449C, MIR548AE2, MIR5687, MIR580, MIR581, MIR582, MOCS2, MOCS2-DT, MROH2B, MRPS30, MRPS30-DT, MTREX, NADK2, NADK2-AS1, NDUFAF2, NDUFS4, NIM1K, NIPBL, NIPBL-DT, NNT, NNT-AS1, NUP155, OSMR, OSMR-DT, OXCT1, OXCT1-AS1, PAIP1, PARP8, PART1, PDE4D, PELO, PELO-AS1, PLCXD3, PLK2, PLPP1, PRKAA1, PRLR, PTGER4, RAB3C, RANBP3L, RICTOR, RIMOC1, RMEL3, RPL37, SELENOP, SETD9, SKP2, SLC1A3, SLC38A9, SMIM15, SMIM15-AS1, SNORD72, SNX18, SPEF2, TMEM267, TTC33, UGT3A1, UGT3A2, WDR70, ZNF131, ZSWIM6 | | See cases | Pathogenic (May 6, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr5:45566963-55802320
- GRCh38:
- Chr5:45566861-56506493
| ANKRD55, ARL15, CCNO, CCNO-DT, CDC20B, CREST1, CREST2, CREST3, DDX4, DHX29, EMB, ESM1, FST, GPX8, GZMA, GZMK, HCN1, HSPB3, IL31RA, IL6ST, IL6ST-DT, ISL1, ISL1-DT, ITGA1, ITGA2, ITGA2-AS1, LINC01033, LINC01948, LINC02105, LINC02106, LINC02118, LINC02998, LOC102467081, LOC106029242, LOC108281172, LOC109286569, LOC110120697, LOC110120712, LOC110121020, LOC110121055, LOC111365172, LOC111365215, LOC111556121, LOC112997594, LOC116158515, LOC116158516, LOC116158517, LOC121056765, LOC123493304, LOC123493305, LOC123493306, LOC123493307, LOC123493308, LOC123493309, LOC123493310, LOC126807382, LOC126807383, LOC126807384, LOC126807385, LOC126807386, LOC126807387, LOC126807388, LOC126807389, LOC126807390, LOC126807391, LOC127402905, LOC128462395, LOC129389282, LOC129389283, LOC129993872, LOC129993873, LOC129993874, LOC129993875, LOC129993876, LOC129993877, LOC129993878, LOC129993879, LOC129993880, LOC129993881, LOC129993882, LOC129993883, LOC129993884, LOC129993885, LOC129993886, LOC129993887, LOC129993888, LOC129993889, LOC129993890, LOC129993891, LOC129993892, LOC129993893, LOC129993894, LOC129993895, LOC129993896, LOC129993897, LOC129993898, LOC129993899, LOC129993900, LOC129993901, LOC129993902, LOC129993903, LOC129993904, LOC129993905, LOC129993906, LOC129993907, LOC129993908, LOC129993909, LOC129993910, LOC129993911, LOC129993912, LOC132090731, MCIDAS, MIR449A, MIR449B, MIR449C, MIR5687, MIR581, MOCS2, MOCS2-DT, MTREX, NDUFS4, PARP8, PELO, PELO-AS1, PLPP1, SLC38A9, SNX18 | | See cases | Uncertain significance (Jan 13, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:49584189-62445597
- GRCh38:
- Chr5:50288355-63149770
| ACTBL2, ANKRD55, ARL15, C5orf67, CCNO, CCNO-DT, CDC20B, CREST1, CREST2, CREST3, DDX4, DEPDC1B, DHX29, DIMT1, ELOVL7, EMB, ERCC8, ERCC8-AS1, ESM1, FST, GAPT, GPBP1, GPX8, GZMA, GZMK, HSPB3, IL31RA, IL6ST, IL6ST-DT, IPO11, IPO11-LRRC70, ISL1, ISL1-DT, ITGA1, ITGA2, ITGA2-AS1, KIF2A, LINC01033, LINC01948, LINC02057, LINC02101, LINC02105, LINC02106, LINC02108, LINC02118, LINC02225, LINC02998, LINC03122, LINC03123, LNCBRM, LOC101928505, LOC101928651, LOC102467081, LOC105378979, LOC105378997, LOC106029242, LOC108281172, LOC109286569, LOC110120697, LOC110120712, LOC110121020, LOC110121055, LOC110121170, LOC111365172, LOC111365215, LOC111556121, LOC112997594, LOC112997595, LOC112997596, LOC113002585, LOC114004394, LOC116158515, LOC116158516, LOC116158517, LOC116158518, LOC121056765, LOC121056766, LOC123493304, LOC123493305, LOC123493306, LOC123493307, LOC123493308, LOC123493309, LOC123493310, LOC123493311, LOC123493312, LOC123493313, LOC123493314, LOC123493315, LOC123493316, LOC123493317, LOC123493318, LOC123493319, LOC123493320, LOC123493321, LOC123493322, LOC123493323, LOC126807383, LOC126807384, LOC126807385, LOC126807386, LOC126807387, LOC126807388, LOC126807389, LOC126807390, LOC126807391, LOC126807392, LOC126807393, LOC126807394, LOC126807395, LOC126807396, LOC126807397, LOC126807398, LOC126807399, LOC126807400, LOC126807401, LOC126807402, LOC126807403, LOC126807404, LOC126807405, LOC126807406, LOC126807407, LOC127402905, LOC128462395, LOC129389282, LOC129389283, LOC129389284, LOC129389285, LOC129389286, LOC129389287, LOC129389288, LOC129389289, LOC129389290, LOC129993872, LOC129993873, LOC129993874, LOC129993875, LOC129993876, LOC129993877, LOC129993878, LOC129993879, LOC129993880, LOC129993881, LOC129993882, LOC129993883, LOC129993884, LOC129993885, LOC129993886, LOC129993887, LOC129993888, LOC129993889, LOC129993890, LOC129993891, LOC129993892, LOC129993893, LOC129993894, LOC129993895, LOC129993896, LOC129993897, LOC129993898, LOC129993899, LOC129993900, LOC129993901, LOC129993902, LOC129993903, LOC129993904, LOC129993905, LOC129993906, LOC129993907, LOC129993908, LOC129993909, LOC129993910, LOC129993911, LOC129993912, LOC129993913, LOC129993914, LOC129993915, LOC129993916, LOC129993917, LOC129993918, LOC129993919, LOC129993920, LOC129993921, LOC129993922, LOC129993923, LOC129993924, LOC129993925, LOC129993926, LOC129993927, LOC129993928, LOC129993929, LOC129993930, LOC129993931, LOC129993932, LOC129993933, LOC129993934, LOC129993935, LOC129993936, LOC129993937, LOC129993938, LOC129993939, LOC129993940, LOC129993941, LOC129993942, LOC129993943, LOC129993944, LOC129993945, LOC129993946, LOC129993947, LOC129993948, LOC129993949, LOC129993950, LOC129993951, LOC129993952, LOC129993953, LOC129993954, LOC129993955, LOC129993956, LOC129993957, LOC129993958, LOC129993959, LOC129993960, LOC129993961, LOC129993962, LOC129993963, LOC129993964, LOC132089276, LOC132089277, LOC132089278, LOC132089279, LOC132089280, LOC132089281, LOC132089282, LOC132089283, LOC132089284, LOC132089285, LOC132089286, LOC132089287, LOC132089288, LOC132090731, LRRC70, MAP3K1, MCIDAS, MIER3, MIR449A, MIR449B, MIR449C, MIR548AE2, MIR5687, MIR581, MIR582, MOCS2, MOCS2-DT, MTREX, NDUFAF2, NDUFS4, PARP8, PART1, PDE4D, PELO, PELO-AS1, PLK2, PLPP1, RAB3C, RMEL3, SETD9, SLC38A9, SMIM15, SMIM15-AS1, SNX18, ZSWIM6 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:49757934-55158813
- GRCh38:
- Chr5:50462100-55862985
| ARL15, CCNO, CCNO-DT, CDC20B, CREST1, CREST2, CREST3, DDX4, DHX29, ESM1, FST, GPX8, GZMA, GZMK, HSPB3, IL31RA, ISL1, ISL1-DT, ITGA1, ITGA2, ITGA2-AS1, LINC01033, LINC02105, LINC02106, LINC02118, LINC02998, LOC102467081, LOC106029242, LOC108281172, LOC109286569, LOC110120697, LOC110120712, LOC110121020, LOC110121055, LOC111365172, LOC111556121, LOC116158515, LOC116158516, LOC116158517, LOC121056765, LOC123493304, LOC123493305, LOC123493306, LOC123493307, LOC123493308, LOC126807383, LOC126807384, LOC126807385, LOC126807386, LOC126807387, LOC126807388, LOC129389282, LOC129389283, LOC129993875, LOC129993876, LOC129993877, LOC129993878, LOC129993879, LOC129993880, LOC129993881, LOC129993882, LOC129993883, LOC129993884, LOC129993885, LOC129993886, LOC129993887, LOC129993888, LOC129993889, LOC129993890, LOC129993891, LOC129993892, LOC129993893, LOC129993894, LOC129993895, LOC129993896, LOC129993897, LOC129993898, LOC129993899, LOC129993900, LOC129993901, LOC129993902, LOC132090731, MCIDAS, MIR449A, MIR449B, MIR449C, MIR5687, MIR581, MOCS2, MOCS2-DT, MTREX, NDUFS4, PARP8, PELO, PELO-AS1, PLPP1, SLC38A9, SNX18 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856230
- GRCh38:
- Chr5:53560400
| NDUFS4 | | not provided | Benign (Jun 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856471
- GRCh38:
- Chr5:53560641
| LOC129993885, NDUFS4 | | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856487
- GRCh38:
- Chr5:53560657
| NDUFS4, LOC129993885 | | not specified | Likely benign (Feb 11, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856487
- GRCh38:
- Chr5:53560657
| LOC129993885, NDUFS4 | | Mitochondrial complex I deficiency, nuclear type 1, not specified, Leigh syndrome
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:52856494
- GRCh38:
- Chr5:53560664
| LOC129993885, NDUFS4 | M1T | not specified | Uncertain significance (Sep 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856495
- GRCh38:
- Chr5:53560665
| LOC129993885, NDUFS4 | M1I | Mitochondrial complex I deficiency, nuclear type 1 | Uncertain significance (Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856497
- GRCh38:
- Chr5:53560667
| LOC129993885, NDUFS4 | A2E | not provided, Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
| Uncertain significance (Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:52856501
- GRCh38:
- Chr5:53560671
| LOC129993885, NDUFS4 | | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856502-52856504
- GRCh38:
- Chr5:53560672-53560674
| LOC129993885, NDUFS4 | V4L | not specified | Likely benign (Jun 25, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856502
- GRCh38:
- Chr5:53560672
| LOC129993885, NDUFS4 | V4L | Mitochondrial complex I deficiency, nuclear type 1, not provided, not specified, Leigh syndrome | Conflicting interpretations of pathogenicity (Mar 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:52856504-52856505
- GRCh38:
- Chr5:53560674-53560675
| LOC129993885, NDUFS4 | S5P | not provided | Uncertain significance (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856504
- GRCh38:
- Chr5:53560674
| LOC129993885, NDUFS4 | | Mitochondrial complex I deficiency, nuclear type 1, not provided, Leigh syndrome
| Benign (Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:52856505
- GRCh38:
- Chr5:53560675
| LOC129993885, NDUFS4 | S5P | not provided, Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome, Mitochondrial complex I deficiency, Leigh syndrome
| Conflicting interpretations of pathogenicity (Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:52856517
- GRCh38:
- Chr5:53560687
| LOC129993885, NDUFS4 | V9L | not provided | Uncertain significance (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856520
- GRCh38:
- Chr5:53560690
| LOC129993885, NDUFS4 | | not provided | Likely benign (Dec 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856530
- GRCh38:
- Chr5:53560700
| LOC129993885, NDUFS4 | T13M | not provided | Uncertain significance (Dec 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856531
- GRCh38:
- Chr5:53560701
| LOC129993885, NDUFS4 | | not provided | Likely benign (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856536
- GRCh38:
- Chr5:53560706
| LOC129993885, NDUFS4 | W15* | Mitochondrial complex I deficiency, nuclear type 1 | Pathogenic (Mar 1, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr5:52856539
- GRCh38:
- Chr5:53560709
| LOC129993885, NDUFS4 | R16L | not provided | Uncertain significance (Jan 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856553
- GRCh38:
- Chr5:53560723
| LOC129993885, NDUFS4 | A21P | not provided | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856560
- GRCh38:
- Chr5:53560730
| LOC129993885, NDUFS4 | A23V | not provided | Uncertain significance (Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856565
- GRCh38:
- Chr5:53560735
| LOC129993885, NDUFS4 | L25F | Leigh syndrome | Uncertain significance (Feb 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856569
- GRCh38:
- Chr5:53560739
| NDUFS4, LOC129993885 | S26F | not provided, Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
| Uncertain significance (Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:52856570
- GRCh38:
- Chr5:53560740
| LOC129993885, NDUFS4 | | not provided | Likely benign (Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856572
- GRCh38:
- Chr5:53560742
| LOC129993885, NDUFS4 | V27D | not provided, Leigh syndrome | Conflicting interpretations of pathogenicity (Aug 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:52856716
- GRCh38:
- Chr5:53560886
| LOC129993885, NDUFS4 | | not provided | Benign (Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856797
- GRCh38:
- Chr5:53560967
| LOC129993885, NDUFS4 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52856879
- GRCh38:
- Chr5:53561049
| NDUFS4 | | not provided | Likely benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52899166-52899167
- GRCh38:
- Chr5:53603336-53603337
| NDUFS4 | | not provided | Benign (Nov 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52899166-52899167
- GRCh38:
- Chr5:53603336-53603337
| NDUFS4 | | not provided | Benign (Oct 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52899166-52899167
- GRCh38:
- Chr5:53603336-53603337
| NDUFS4 | | not provided | Benign (Aug 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52899276
- GRCh38:
- Chr5:53603446
| NDUFS4 | | not provided | Likely benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52899281
- GRCh38:
- Chr5:53603451
| NDUFS4 | | Leigh syndrome | Pathogenic (Feb 12, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52899283
- GRCh38:
- Chr5:53603453
| NDUFS4 | S34P | not provided | Uncertain significance (Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52899284
- GRCh38:
- Chr5:53603454
| NDUFS4 | S34L | not provided | Uncertain significance (Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52899285
- GRCh38:
- Chr5:53603455
| NDUFS4 | | Mitochondrial complex I deficiency, nuclear type 1, not provided, not specified, Leigh syndrome | Conflicting interpretations of pathogenicity (Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:52899290
- GRCh38:
- Chr5:53603460
| NDUFS4 | R36K | Mitochondrial complex I deficiency, nuclear type 1, not provided, Leigh syndrome
| Uncertain significance (May 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:52899307
- GRCh38:
- Chr5:53603477
| NDUFS4 | | not provided | Likely benign (Sep 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52899314
- GRCh38:
- Chr5:53603484
| NDUFS4 | Q44R | not provided | Uncertain significance (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52899333
- GRCh38:
- Chr5:53603503
| NDUFS4 | | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1, not provided
| Conflicting interpretations of pathogenicity (Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:52899343
- GRCh38:
- Chr5:53603513
| NDUFS4 | T54A | not provided | Uncertain significance (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52899350
- GRCh38:
- Chr5:53603520
| NDUFS4 | D56A | not provided | Uncertain significance (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52899374
- GRCh38:
- Chr5:53603544
| NDUFS4 | | not provided | Likely benign (Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52941754-52941755
- GRCh38:
- Chr5:53645924-53645925
| NDUFS4 | | not provided | Likely benign (Jun 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52941835
- GRCh38:
- Chr5:53646005
| NDUFS4 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52941859
- GRCh38:
- Chr5:53646029
| NDUFS4 | | not provided | Benign (Jul 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52941905
- GRCh38:
- Chr5:53646075
| NDUFS4 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52941982
- GRCh38:
- Chr5:53646152
| NDUFS4 | | not provided | Likely benign (Jul 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942059
- GRCh38:
- Chr5:53646229
| NDUFS4 | | not provided, Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
| Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:52942061
- GRCh38:
- Chr5:53646231
| NDUFS4 | | Leigh syndrome | Pathogenic (Nov 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942083
- GRCh38:
- Chr5:53646253
| NDUFS4 | | Mitochondrial complex I deficiency, nuclear type 1, not specified, not provided, Leigh syndrome | Benign (Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:52942093
- GRCh38:
- Chr5:53646263
| NDUFS4 | E70* | not provided | Pathogenic (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942106
- GRCh38:
- Chr5:53646276
| NDUFS4 | T74fs | Leigh syndrome | Likely pathogenic (Feb 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942111
- GRCh38:
- Chr5:53646281
| NDUFS4 | K76E | Inborn genetic diseases | Uncertain significance (Jul 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942135
- GRCh38:
- Chr5:53646305
| NDUFS4 | R84C | not provided | Uncertain significance (Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942136
- GRCh38:
- Chr5:53646306
| NDUFS4 | R84H | not provided | Uncertain significance (Aug 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942144
- GRCh38:
- Chr5:53646314
| NDUFS4 | M87V | Inborn genetic diseases | Uncertain significance (May 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942151
- GRCh38:
- Chr5:53646321
| NDUFS4 | S89Y | Inborn genetic diseases | Uncertain significance (Mar 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942163
- GRCh38:
- Chr5:53646333
| NDUFS4 | N93S | not provided | Uncertain significance (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942175
- GRCh38:
- Chr5:53646345
| NDUFS4 | | not provided, Leigh syndrome | Pathogenic (Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:52942184
- GRCh38:
- Chr5:53646354
| NDUFS4 | E100G | Inborn genetic diseases | Uncertain significance (Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942197
- GRCh38:
- Chr5:53646367
| NDUFS4 | | Mitochondrial complex I deficiency, nuclear type 1, not provided, Leigh syndrome
| Benign (Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:52942201
- GRCh38:
- Chr5:53646371
| NDUFS4 | R106* | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency, not provided, Leigh syndrome | Pathogenic (Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:52942204-52942207
- GRCh38:
- Chr5:53646374-53646377
| NDUFS4 | W107fs | Inborn genetic diseases | Pathogenic (Jun 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942225
- GRCh38:
- Chr5:53646395
| NDUFS4 | W114R | not provided | Uncertain significance (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942236
- GRCh38:
- Chr5:53646406
| NDUFS4 | | Mitochondrial complex I deficiency, nuclear type 1 | Likely pathogenic (Jul 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942236
- GRCh38:
- Chr5:53646406
| NDUFS4 | | Leigh syndrome | Pathogenic (Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942240
- GRCh38:
- Chr5:53646410
| NDUFS4 | | Mitochondrial complex I deficiency, nuclear type 1, Infantile encephalopathy, Lactic acidosis, Developmental regression | Pathogenic (Jun 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942241
- GRCh38:
- Chr5:53646411
| NDUFS4 | | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome | Uncertain significance (Oct 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:52942409-52942410
- GRCh38:
- Chr5:53646579-53646580
| NDUFS4 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942463
- GRCh38:
- Chr5:53646633
| NDUFS4 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52942525-52942526
- GRCh38:
- Chr5:53646695-53646696
| NDUFS4 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954280
- GRCh38:
- Chr5:53658450
| NDUFS4 | | not provided | Benign (Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954315
- GRCh38:
- Chr5:53658485
| NDUFS4 | | not provided | Likely benign (Jul 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954367-52954370
- GRCh38:
- Chr5:53658537-53658540
| NDUFS4 | | not provided, Mitochondrial complex I deficiency, Leigh syndrome
| Conflicting interpretations of pathogenicity (Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:52954380
- GRCh38:
- Chr5:53658550
| NDUFS4 | | Mitochondrial complex I deficiency, nuclear type 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954385
- GRCh38:
- Chr5:53658555
| NDUFS4 | D119H | Mitochondrial complex I deficiency, Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
| Conflicting interpretations of pathogenicity (Aug 7, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:52954386
- GRCh38:
- Chr5:53658556
| NDUFS4 | D119G | not provided | Uncertain significance (Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954390
- GRCh38:
- Chr5:53658560
| NDUFS4 | | Mitochondrial complex I deficiency, nuclear type 1, not provided, Leigh syndrome
| Conflicting interpretations of pathogenicity (Dec 2, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:52954404-52954411
- GRCh38:
- Chr5:53658574-53658581
| NDUFS4 | L126fs | not provided | Likely pathogenic (Apr 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954406
- GRCh38:
- Chr5:53658576
| NDUFS4 | | not specified | Benign (Jul 7, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954419
- GRCh38:
- Chr5:53658589
| NDUFS4 | T130S | not specified | Likely benign (Aug 25, 2012) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954420-52954421
- GRCh38:
- Chr5:53658590-53658591
| NDUFS4 | E132fs | not provided | Pathogenic (Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954436
- GRCh38:
- Chr5:53658606
| NDUFS4 | S136A | not provided | Uncertain significance (Sep 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954468-52954469
- GRCh38:
- Chr5:53658638-53658639
| NDUFS4 | | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1, not specified, not provided, Mitochondrial complex I deficiency | Benign/Likely benign (Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:52954514
- GRCh38:
- Chr5:53658684
| NDUFS4 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954588
- GRCh38:
- Chr5:53658758
| NDUFS4 | | not provided | Likely benign (Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954613-52954614
- GRCh38:
- Chr5:53658783-53658784
| NDUFS4 | | not provided | Benign (Oct 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954614-52954615
- GRCh38:
- Chr5:53658784-53658785
| NDUFS4 | | not provided | Benign (Jun 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954614-52954615
- GRCh38:
- Chr5:53658784-53658785
| NDUFS4 | | not provided | Benign (Nov 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954614-52954615
- GRCh38:
- Chr5:53658784-53658785
| NDUFS4 | | not provided | Benign (Aug 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954615-52954621
- GRCh38:
- Chr5:53658785-53658791
| NDUFS4 | | not provided | Likely benign (Dec 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52954750
- GRCh38:
- Chr5:53658920
| NDUFS4 | | not provided | Likely benign (Jul 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52978722
- GRCh38:
- Chr5:53682892
| NDUFS4 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:52978764
- GRCh38:
- Chr5:53682934
| NDUFS4 | | not provided | Likely benign (Jul 3, 2019) | criteria provided, single submitter |