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Items: 1 to 100 of 139

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
2.
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 casesPathogenic
(May 6, 2011)
no assertion criteria provided
3.
GRCh37:
Chr5:45566963-55802320
GRCh38:
Chr5:45566861-56506493
See casesUncertain significance
(Jan 13, 2012)
no assertion criteria provided
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr5:49757934-55158813
GRCh38:
Chr5:50462100-55862985
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr5:52856230
GRCh38:
Chr5:53560400
NDUFS4not providedBenign
(Jun 28, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr5:52856471
GRCh38:
Chr5:53560641
LOC129993885, NDUFS4Mitochondrial complex I deficiency, nuclear type 1, Leigh syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr5:52856487
GRCh38:
Chr5:53560657
NDUFS4, LOC129993885not specifiedLikely benign
(Feb 11, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr5:52856487
GRCh38:
Chr5:53560657
LOC129993885, NDUFS4Mitochondrial complex I deficiency, nuclear type 1, not specified, Leigh syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr5:52856494
GRCh38:
Chr5:53560664
LOC129993885, NDUFS4M1Tnot specifiedUncertain significance
(Sep 13, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr5:52856495
GRCh38:
Chr5:53560665
LOC129993885, NDUFS4M1IMitochondrial complex I deficiency, nuclear type 1Uncertain significance
(Mar 23, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr5:52856497
GRCh38:
Chr5:53560667
LOC129993885, NDUFS4A2Enot provided, Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Uncertain significance
(Feb 2, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr5:52856501
GRCh38:
Chr5:53560671
LOC129993885, NDUFS4Mitochondrial complex I deficiency, nuclear type 1, Leigh syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr5:52856502-52856504
GRCh38:
Chr5:53560672-53560674
LOC129993885, NDUFS4V4Lnot specifiedLikely benign
(Jun 25, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr5:52856502
GRCh38:
Chr5:53560672
LOC129993885, NDUFS4V4LMitochondrial complex I deficiency, nuclear type 1, not provided, not specified,
Leigh syndrome
Conflicting interpretations of pathogenicity
(Mar 9, 2022)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr5:52856504-52856505
GRCh38:
Chr5:53560674-53560675
LOC129993885, NDUFS4S5Pnot providedUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr5:52856504
GRCh38:
Chr5:53560674
LOC129993885, NDUFS4Mitochondrial complex I deficiency, nuclear type 1, not provided, Leigh syndrome
Benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr5:52856505
GRCh38:
Chr5:53560675
LOC129993885, NDUFS4S5Pnot 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
19.
GRCh37:
Chr5:52856517
GRCh38:
Chr5:53560687
LOC129993885, NDUFS4V9Lnot providedUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr5:52856520
GRCh38:
Chr5:53560690
LOC129993885, NDUFS4not providedLikely benign
(Dec 16, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr5:52856530
GRCh38:
Chr5:53560700
LOC129993885, NDUFS4T13Mnot providedUncertain significance
(Dec 12, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr5:52856531
GRCh38:
Chr5:53560701
LOC129993885, NDUFS4not providedLikely benign
(Dec 2, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr5:52856536
GRCh38:
Chr5:53560706
LOC129993885, NDUFS4W15*Mitochondrial complex I deficiency, nuclear type 1Pathogenic
(Mar 1, 2001)
no assertion criteria provided
24.
GRCh37:
Chr5:52856539
GRCh38:
Chr5:53560709
LOC129993885, NDUFS4R16Lnot providedUncertain significance
(Jan 5, 2023)
criteria provided, single submitter
25.
GRCh37:
Chr5:52856553
GRCh38:
Chr5:53560723
LOC129993885, NDUFS4A21Pnot providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr5:52856560
GRCh38:
Chr5:53560730
LOC129993885, NDUFS4A23Vnot providedUncertain significance
(Jul 20, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr5:52856565
GRCh38:
Chr5:53560735
LOC129993885, NDUFS4L25FLeigh syndromeUncertain significance
(Feb 22, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr5:52856569
GRCh38:
Chr5:53560739
NDUFS4, LOC129993885S26Fnot provided, Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Uncertain significance
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr5:52856570
GRCh38:
Chr5:53560740
LOC129993885, NDUFS4not providedLikely benign
(Apr 26, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr5:52856572
GRCh38:
Chr5:53560742
LOC129993885, NDUFS4V27Dnot provided, Leigh syndromeConflicting interpretations of pathogenicity
(Aug 24, 2022)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr5:52856716
GRCh38:
Chr5:53560886
LOC129993885, NDUFS4not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr5:52856797
GRCh38:
Chr5:53560967
LOC129993885, NDUFS4not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr5:52856879
GRCh38:
Chr5:53561049
NDUFS4not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr5:52899166-52899167
GRCh38:
Chr5:53603336-53603337
NDUFS4not providedBenign
(Nov 6, 2019)
criteria provided, single submitter
35.
GRCh37:
Chr5:52899166-52899167
GRCh38:
Chr5:53603336-53603337
NDUFS4not providedBenign
(Oct 10, 2019)
criteria provided, single submitter
36.
GRCh37:
Chr5:52899166-52899167
GRCh38:
Chr5:53603336-53603337
NDUFS4not providedBenign
(Aug 26, 2019)
criteria provided, single submitter
37.
GRCh37:
Chr5:52899276
GRCh38:
Chr5:53603446
NDUFS4not providedLikely benign
(Oct 5, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr5:52899281
GRCh38:
Chr5:53603451
NDUFS4Leigh syndromePathogenic
(Feb 12, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr5:52899283
GRCh38:
Chr5:53603453
NDUFS4S34Pnot providedUncertain significance
(Apr 16, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr5:52899284
GRCh38:
Chr5:53603454
NDUFS4S34Lnot providedUncertain significance
(Feb 22, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr5:52899285
GRCh38:
Chr5:53603455
NDUFS4Mitochondrial complex I deficiency, nuclear type 1, not provided, not specified,
Leigh syndrome
Conflicting interpretations of pathogenicity
(Aug 23, 2022)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr5:52899290
GRCh38:
Chr5:53603460
NDUFS4R36KMitochondrial complex I deficiency, nuclear type 1, not provided, Leigh syndrome
Uncertain significance
(May 9, 2023)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr5:52899307
GRCh38:
Chr5:53603477
NDUFS4not providedLikely benign
(Sep 24, 2019)
criteria provided, single submitter
44.
GRCh37:
Chr5:52899314
GRCh38:
Chr5:53603484
NDUFS4Q44Rnot providedUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr5:52899333
GRCh38:
Chr5:53603503
NDUFS4Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1, not provided
Conflicting interpretations of pathogenicity
(Aug 23, 2022)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr5:52899343
GRCh38:
Chr5:53603513
NDUFS4T54Anot providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr5:52899350
GRCh38:
Chr5:53603520
NDUFS4D56Anot providedUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr5:52899374
GRCh38:
Chr5:53603544
NDUFS4not providedLikely benign
(Mar 9, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr5:52941754-52941755
GRCh38:
Chr5:53645924-53645925
NDUFS4not providedLikely benign
(Jun 16, 2020)
criteria provided, single submitter
50.
GRCh37:
Chr5:52941835
GRCh38:
Chr5:53646005
NDUFS4not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr5:52941859
GRCh38:
Chr5:53646029
NDUFS4not providedBenign
(Jul 7, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr5:52941905
GRCh38:
Chr5:53646075
NDUFS4not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr5:52941982
GRCh38:
Chr5:53646152
NDUFS4not providedLikely benign
(Jul 27, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr5:52942059
GRCh38:
Chr5:53646229
NDUFS4not provided, Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr5:52942061
GRCh38:
Chr5:53646231
NDUFS4Leigh syndromePathogenic
(Nov 8, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr5:52942083
GRCh38:
Chr5:53646253
NDUFS4Mitochondrial complex I deficiency, nuclear type 1, not specified, not provided,
Leigh syndrome
Benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr5:52942093
GRCh38:
Chr5:53646263
NDUFS4E70*not providedPathogenic
(Oct 25, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr5:52942106
GRCh38:
Chr5:53646276
NDUFS4T74fsLeigh syndromeLikely pathogenic
(Feb 10, 2023)
criteria provided, single submitter
59.
GRCh37:
Chr5:52942111
GRCh38:
Chr5:53646281
NDUFS4K76EInborn genetic diseasesUncertain significance
(Jul 17, 2023)
criteria provided, single submitter
60.
GRCh37:
Chr5:52942135
GRCh38:
Chr5:53646305
NDUFS4R84Cnot providedUncertain significance
(Sep 29, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr5:52942136
GRCh38:
Chr5:53646306
NDUFS4R84Hnot providedUncertain significance
(Aug 18, 2023)
criteria provided, single submitter
62.
GRCh37:
Chr5:52942144
GRCh38:
Chr5:53646314
NDUFS4M87VInborn genetic diseasesUncertain significance
(May 22, 2023)
criteria provided, single submitter
63.
GRCh37:
Chr5:52942151
GRCh38:
Chr5:53646321
NDUFS4S89YInborn genetic diseasesUncertain significance
(Mar 24, 2023)
criteria provided, single submitter
64.
GRCh37:
Chr5:52942163
GRCh38:
Chr5:53646333
NDUFS4N93Snot providedUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr5:52942175
GRCh38:
Chr5:53646345
NDUFS4not provided, Leigh syndromePathogenic
(Oct 6, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr5:52942184
GRCh38:
Chr5:53646354
NDUFS4E100GInborn genetic diseasesUncertain significance
(Jan 24, 2023)
criteria provided, single submitter
67.
GRCh37:
Chr5:52942197
GRCh38:
Chr5:53646367
NDUFS4Mitochondrial complex I deficiency, nuclear type 1, not provided, Leigh syndrome
Benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr5:52942201
GRCh38:
Chr5:53646371
NDUFS4R106*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
69.
GRCh37:
Chr5:52942204-52942207
GRCh38:
Chr5:53646374-53646377
NDUFS4W107fsInborn genetic diseasesPathogenic
(Jun 6, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr5:52942225
GRCh38:
Chr5:53646395
NDUFS4W114Rnot providedUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr5:52942236
GRCh38:
Chr5:53646406
NDUFS4Mitochondrial complex I deficiency, nuclear type 1Likely pathogenic
(Jul 22, 2020)
criteria provided, single submitter
72.
GRCh37:
Chr5:52942236
GRCh38:
Chr5:53646406
NDUFS4Leigh syndromePathogenic
(Oct 19, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr5:52942240
GRCh38:
Chr5:53646410
NDUFS4Mitochondrial complex I deficiency, nuclear type 1, Infantile encephalopathy, Lactic acidosis,
Developmental regression
Pathogenic
(Jun 9, 2020)
criteria provided, single submitter
74.
GRCh37:
Chr5:52942241
GRCh38:
Chr5:53646411
NDUFS4Mitochondrial complex I deficiency, nuclear type 1, Leigh syndromeUncertain significance
(Oct 11, 2021)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr5:52942409-52942410
GRCh38:
Chr5:53646579-53646580
NDUFS4not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr5:52942463
GRCh38:
Chr5:53646633
NDUFS4not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr5:52942525-52942526
GRCh38:
Chr5:53646695-53646696
NDUFS4not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr5:52954280
GRCh38:
Chr5:53658450
NDUFS4not providedBenign
(Jun 26, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr5:52954315
GRCh38:
Chr5:53658485
NDUFS4not providedLikely benign
(Jul 7, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr5:52954367-52954370
GRCh38:
Chr5:53658537-53658540
NDUFS4not provided, Mitochondrial complex I deficiency, Leigh syndrome
Conflicting interpretations of pathogenicity
(Jun 1, 2023)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr5:52954380
GRCh38:
Chr5:53658550
NDUFS4Mitochondrial complex I deficiency, nuclear type 1Likely pathogeniccriteria provided, single submitter
82.
GRCh37:
Chr5:52954385
GRCh38:
Chr5:53658555
NDUFS4D119HMitochondrial complex I deficiency, Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Conflicting interpretations of pathogenicity
(Aug 7, 2018)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr5:52954386
GRCh38:
Chr5:53658556
NDUFS4D119Gnot providedUncertain significance
(Jul 3, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr5:52954390
GRCh38:
Chr5:53658560
NDUFS4Mitochondrial complex I deficiency, nuclear type 1, not provided, Leigh syndrome
Conflicting interpretations of pathogenicity
(Dec 2, 2021)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr5:52954404-52954411
GRCh38:
Chr5:53658574-53658581
NDUFS4L126fsnot providedLikely pathogenic
(Apr 20, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr5:52954406
GRCh38:
Chr5:53658576
NDUFS4not specifiedBenign
(Jul 7, 2014)
criteria provided, single submitter
87.
GRCh37:
Chr5:52954419
GRCh38:
Chr5:53658589
NDUFS4T130Snot specifiedLikely benign
(Aug 25, 2012)
criteria provided, single submitter
88.
GRCh37:
Chr5:52954420-52954421
GRCh38:
Chr5:53658590-53658591
NDUFS4E132fsnot providedPathogenic
(Apr 26, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr5:52954436
GRCh38:
Chr5:53658606
NDUFS4S136Anot providedUncertain significance
(Sep 4, 2020)
criteria provided, single submitter
90.
GRCh37:
Chr5:52954468-52954469
GRCh38:
Chr5:53658638-53658639
NDUFS4Leigh 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
91.
GRCh37:
Chr5:52954514
GRCh38:
Chr5:53658684
NDUFS4not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr5:52954588
GRCh38:
Chr5:53658758
NDUFS4not providedLikely benign
(Jun 23, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr5:52954613-52954614
GRCh38:
Chr5:53658783-53658784
NDUFS4not providedBenign
(Oct 9, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr5:52954614-52954615
GRCh38:
Chr5:53658784-53658785
NDUFS4not providedBenign
(Jun 3, 2020)
criteria provided, single submitter
95.
GRCh37:
Chr5:52954614-52954615
GRCh38:
Chr5:53658784-53658785
NDUFS4not providedBenign
(Nov 22, 2019)
criteria provided, single submitter
96.
GRCh37:
Chr5:52954614-52954615
GRCh38:
Chr5:53658784-53658785
NDUFS4not providedBenign
(Aug 26, 2019)
criteria provided, single submitter
97.
GRCh37:
Chr5:52954615-52954621
GRCh38:
Chr5:53658785-53658791
NDUFS4not providedLikely benign
(Dec 22, 2020)
criteria provided, single submitter
98.
GRCh37:
Chr5:52954750
GRCh38:
Chr5:53658920
NDUFS4not providedLikely benign
(Jul 27, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr5:52978722
GRCh38:
Chr5:53682892
NDUFS4not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr5:52978764
GRCh38:
Chr5:53682934
NDUFS4not providedLikely benign
(Jul 3, 2019)
criteria provided, single submitter
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