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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:
Chr5:49584189-62445597
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
4.
GRCh37:
Chr5:56243677-61021228
GRCh38:
Chr5:56947850-61725401
See casesPathogenic
(May 30, 2010)
no assertion criteria provided
5.
GRCh38:
Chr5:58780641-73523380
LINC02219, LINC02229, LOC123497905, LOC123497906, LOC129993954, LOC129993955, LOC129993995, LOC129993996, LOC129994036, SNORD13B-1, SNORD13B-2, SREK1, SREK1IP1, TAF9, TILRLS, LOC129994042, LOC129994043, LOC132089288, LOC340090, LRRC70, MAP1B, LOC129994037, LOC129994038, LOC129994044, LOC129994045, MARVELD2, LOC129994002, LOC129994003, LOC129994005, LOC129994006, LOC129994007, LOC129994008, LOC129994009, LOC129994010, LOC129994011, MAST4, MAST4-AS1, LOC129994039, LOC129994040, LOC129994041, LOC129993997, LOC129993998, LOC129993999, LOC129994004, LOC129993969, LOC129993970, LOC129993959, LOC129993960, LOC129993961, LOC129993964, LOC129993965, LOC129993966, LOC129993967, LOC129993968, LOC129994000, LOC129994001, LOC129993956, LOC129993957, LOC126807405, LOC126807406, LOC126807407, LOC126807408, LOC126807409, LOC126807410, LOC126807411, LOC126807412, LOC126807413, LOC126807414, LOC126807417, LOC126807415, LOC126807416, LOC126807418, LOC126807419, LOC129389287, LOC129993958, LOC126807403, LOC126807404, LOC121079940, LOC121079941, LOC129993962, LOC129993963, LOC105378997, LINC02230, LINC02242, LOC105379030, LOC111089946, LOC111556106, LOC113002588, LOC113002589, LOC113002590, LOC113002591, LOC114004394, LOC116158518, LOC121079939, AK6, LINC02997, LINC03122, LINC03123, LOC101928651, LOC101928924, LOC102503427, ADAMTS6, BDP1, BTF3, BTF3-DT, CARTPT, CCDC125, CCNB1, CD180, CDK7, CENPH, CENPK, CWC27, DEPDC1B, DIMT1, ELOVL7, ERBIN, ERCC8, ERCC8-AS1, FCHO2, FCHO2-DT, FOXD1, GTF2H2, GTF2H2C, HTR1A, IPO11, IPO11-LRRC70, KGD4, KIF2A, LINC01386, LINC02057, LINC02065, LINC02197, LINC02198, LOC121079942, LOC121079943, LOC121079944, LOC121079945, LOC121725205, LOC121725206, LOC121725207, LOC123493319, LOC123493320, LOC123493321, LOC123493322, LOC123493323, LOC123493324, LOC123493325, LOC123493326, LOC123493327, LOC123493329, LOC123493330, LOC123493331, LOC123493332, LOC123493333, LOC123493334, LOC123493335, LOC129389288, LOC129389289, LOC129389290, LOC129389291, LOC129389292, LOC129389293, LOC129389294, LOC129389296, LOC129993938, LOC129993939, LOC129993940, LOC129993941, LOC129993942, LOC129993943, LOC129993944, LOC129993945, LOC129993946, LOC129993947, LOC129993948, LOC129993949, LOC129993950, LOC129993951, LOC129993952, LOC129993953, LOC129993971, LOC129993972, LOC129993973, LOC129993974, LOC129993975, LOC129993976, LOC129993977, LOC129993978, LOC129993979, LOC129993980, LOC129993981, LOC129993982, LOC129993983, LOC129993984, LOC129993985, LOC129993986, LOC129993987, LOC129993988, LOC129993989, LOC129993990, LOC129993991, LOC129993992, LOC129993993, LOC129993994, LOC129994012, LOC129994013, LOC129994014, LOC129994015, LOC129994016, LOC129994017, LOC129994018, LOC129994019, LOC129994020, LOC129994021, LOC129994022, LOC129994023, LOC129994024, LOC129994025, LOC129994026, LOC129994027, LOC129994028, LOC129994029, LOC129994030, LOC129994031, LOC129994032, LOC129994033, LOC129994034, LOC129994035, MCCC2, MIR4803, MIR4804, MIR582, MRPS27, NAIP, NDUFAF2, NLN, OCLN, PART1, PDE4D, PIK3R1, PPWD1, PTCD2, RAB3C, RAD17, RGS7BP, RNF180, SERF1A, SERF1B, SGTB, SHISAL2B, SHLD3, SLC30A5, SMIM15, SMIM15-AS1, SMN-AS1, SMN1, SMN2, SNORA50D, TMEM171, TMEM174, TNPO1, TNPO1-DT, TRAPPC13, TRIM23, ZNF366, ZSWIM6
Intellectual disabilityLikely pathogenicno assertion criteria provided
6.
GRCh37:
Chr5:59794904-63223610
GRCh38:
Chr5:60499077-63927783
See casesPathogenic
(Jul 10, 2013)
no assertion criteria provided
7.
GRCh37:
Chr5:59905195-60180834
GRCh38:
Chr5:60609368-60885007
DEPDC1B, ELOVL7, ERCC8, LOC123493322, LOC129993944, LOC129993945, LOC129993946, LOC129993947, LOC129993948See casesUncertain significance
(Aug 5, 2011)
no assertion criteria provided
8.
GRCh37:
Chr5:60169679
GRCh38:
Chr5:60873852
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr5:60169717
GRCh38:
Chr5:60873890
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr5:60169718
GRCh38:
Chr5:60873891
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr5:60169798
GRCh38:
Chr5:60873971
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr5:60169840
GRCh38:
Chr5:60874013
ERCC8Cockayne syndrome type 1Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr5:60169859
GRCh38:
Chr5:60874032
ERCC8Cockayne syndrome type 1Benign
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr5:60169923
GRCh38:
Chr5:60874096
ERCC8Cockayne syndrome type 1Benign
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr5:60169980
GRCh38:
Chr5:60874153
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr5:60169984
GRCh38:
Chr5:60874157
ERCC8Cockayne syndrome type 1Benign
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr5:60170003
GRCh38:
Chr5:60874176
ERCC8Cockayne syndrome type 1Benign
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr5:60170065
GRCh38:
Chr5:60874238
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr5:60170066-60170067
GRCh38:
Chr5:60874239-60874240
ERCC8Cockayne syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr5:60170205
GRCh38:
Chr5:60874378
ERCC8not provided, Cockayne syndrome type 1Benign/Likely benign
(Jul 6, 2018)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr5:60170326
GRCh38:
Chr5:60874499
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr5:60170329
GRCh38:
Chr5:60874502
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 15, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr5:60170337
GRCh38:
Chr5:60874510
ERCC8not provided, Cockayne syndrome type 1Benign
(Jul 9, 2018)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr5:60170406
GRCh38:
Chr5:60874579
ERCC8not provided, Cockayne syndrome type 1Benign
(Jul 10, 2018)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr5:60170432-60369051
GRCh38:
Chr5:60874605-61073224
ERCC8, ERCC8-AS1, LOC129993949, NDUFAF2not providedPathogenic
(Nov 2, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr5:60170435
GRCh38:
Chr5:60874608
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr5:60170441-60170447
GRCh38:
Chr5:60874614-60874620
ERCC8G396fs, G243fs, G338fsCockayne syndrome type 1Uncertain significance
(Mar 5, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr5:60170443
GRCh38:
Chr5:60874616
ERCC8not providedLikely benign
(Mar 29, 2020)
criteria provided, single submitter
29.
GRCh37:
Chr5:60170447-60170449
GRCh38:
Chr5:60874620-60874622
ERCC8E395del, E242del, E337delCockayne syndrome type 1Uncertain significance
(Feb 15, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr5:60170450
GRCh38:
Chr5:60874623
ERCC8E242K, E337K, E395Knot providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr5:60170463
GRCh38:
Chr5:60874636
ERCC8not providedLikely benign
(Sep 8, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr5:60170469
GRCh38:
Chr5:60874642
ERCC8not providedLikely benign
(Feb 14, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr5:60170469
GRCh38:
Chr5:60874642
ERCC8not providedLikely benign
(Sep 9, 2020)
criteria provided, single submitter
34.
GRCh37:
Chr5:60170474
GRCh38:
Chr5:60874647
ERCC8D329H, D387H, D234HCockayne syndrome type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr5:60170477
GRCh38:
Chr5:60874650
ERCC8E386K, E328K, E233Knot providedUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr5:60170484
GRCh38:
Chr5:60874657
ERCC8not providedLikely benign
(Oct 4, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr5:60170485
GRCh38:
Chr5:60874658
ERCC8P230L, P325L, P383Lnot providedUncertain significance
(May 5, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr5:60170493
GRCh38:
Chr5:60874666
ERCC8not providedLikely benign
(Oct 21, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr5:60170496
GRCh38:
Chr5:60874669
ERCC8Q322fs, Q380fs, Q227fsCockayne syndrome type 1Uncertain significance
(Dec 22, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr5:60170504
GRCh38:
Chr5:60874677
ERCC8T377A, T224A, T319Anot specifiedUncertain significance
(Nov 4, 2015)
criteria provided, single submitter
41.
GRCh37:
Chr5:60170508
GRCh38:
Chr5:60874681
ERCC8T376fs, T223fs, T318fsCockayne syndrome type 1Uncertain significance
(Sep 21, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr5:60170512
GRCh38:
Chr5:60874685
ERCC8not providedUncertain significance
(Nov 3, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr5:60170512-60170513
GRCh38:
Chr5:60874685-60874686
ERCC8not providedBenign
(Nov 4, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr5:60170514
GRCh38:
Chr5:60874687
ERCC8not providedLikely benign
(Aug 21, 2019)
criteria provided, single submitter
45.
GRCh37:
Chr5:60170518
GRCh38:
Chr5:60874691
ERCC8not providedLikely benign
(Oct 14, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr5:60170528-60170530
GRCh38:
Chr5:60874701-60874703
ERCC8not providedLikely benign
(Aug 18, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr5:60170558
GRCh38:
Chr5:60874731
ERCC8not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr5:60170605
GRCh38:
Chr5:60874778
ERCC8not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr5:60180775-60428760
GRCh38:
Chr5:60884948-61132933
ERCC8, ERCC8-AS1, LOC129993949, NDUFAF2See casesPathogenic
(Dec 16, 2011)
no assertion criteria provided
50.
GRCh37:
Chr5:60183074
GRCh38:
Chr5:60887247
ERCC8not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr5:60183266
GRCh38:
Chr5:60887439
ERCC8Cockayne syndrome type 1Likely pathogenic
(May 21, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr5:60183267
GRCh38:
Chr5:60887440
ERCC8E221D, E374D, E316Dnot providedUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr5:60183272
GRCh38:
Chr5:60887445
ERCC8D315Y, D220Y, D373Ynot providedUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr5:60183284
GRCh38:
Chr5:60887457
ERCC8V369L, V311L, V216Lnot provided, Cockayne syndrome type 1Likely benign
(Oct 29, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr5:60183286
GRCh38:
Chr5:60887459
ERCC8P215R, P310R, P368Rnot providedUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr5:60183293-60183294
GRCh38:
Chr5:60887466-60887467
ERCC8Y308fs, Y366fs, Y213fsCockayne syndrome type 1Uncertain significance
(Nov 21, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr5:60183294
GRCh38:
Chr5:60887467
ERCC8not providedLikely benign
(Apr 14, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr5:60183297
GRCh38:
Chr5:60887470
ERCC8not providedLikely benign
(Jun 5, 2020)
criteria provided, single submitter
59.
GRCh37:
Chr5:60183300
GRCh38:
Chr5:60887473
ERCC8not providedLikely benign
(Sep 23, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr5:60183300
GRCh38:
Chr5:60887473
ERCC8not providedLikely benign
(Apr 14, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr5:60183306
GRCh38:
Chr5:60887479
ERCC8W361C, W208C, W303CUV-sensitive syndrome 2Pathogenic
(Apr 14, 2009)
no assertion criteria provided
62.
GRCh37:
Chr5:60183309
GRCh38:
Chr5:60887482
ERCC8not specified, not provided, Cockayne syndrome type 1
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr5:60183318
GRCh38:
Chr5:60887491
ERCC8not providedLikely benign
(Dec 7, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr5:60183319
GRCh38:
Chr5:60887492
ERCC8N357S, N204S, N299Snot provided, Cockayne syndrome type 1Uncertain significance
(Sep 12, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr5:60183321
GRCh38:
Chr5:60887494
ERCC8C203*, C298*, C356*not providedPathogenic
(Feb 9, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr5:60183321
GRCh38:
Chr5:60887494
ERCC8not providedLikely benign
(Oct 8, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr5:60183332
GRCh38:
Chr5:60887505
ERCC8S200G, S295G, S353GInborn genetic diseasesUncertain significance
(May 18, 2023)
criteria provided, single submitter
68.
GRCh37:
Chr5:60183334
GRCh38:
Chr5:60887507
ERCC8G199fs, G294fs, G352fsnot providedUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr5:60183336
GRCh38:
Chr5:60887509
ERCC8not providedLikely benign
(May 2, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr5:60183336
GRCh38:
Chr5:60887509
ERCC8S198fs, S293fs, S351fsnot providedLikely pathogenic
(Nov 18, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr5:60183342
GRCh38:
Chr5:60887515
ERCC8not providedLikely benign
(Jul 29, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr5:60183345
GRCh38:
Chr5:60887518
ERCC8not providedLikely benign
(Jul 13, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr5:60183348
GRCh38:
Chr5:60887521
ERCC8Cockayne syndrome type 1Likely pathogenic
(Apr 18, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr5:60183348
GRCh38:
Chr5:60887521
ERCC8Cockayne syndrome type 1Likely pathogenic
(Apr 18, 2017)
criteria provided, single submitter
75.
GRCh37:
Chr5:60183349
GRCh38:
Chr5:60887522
ERCC8Cockayne syndrome type 1, UV-sensitive syndrome 2, Cockayne syndrome type 1,
not provided
Pathogenic/Likely pathogenic
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr5:60183351-60183352
GRCh38:
Chr5:60887524-60887525
ERCC8not providedLikely benign
(May 8, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr5:60183355
GRCh38:
Chr5:60887528
ERCC8not providedLikely benign
(Aug 22, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr5:60183356
GRCh38:
Chr5:60887529
ERCC8not providedLikely benign
(Oct 30, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr5:60186618
GRCh38:
Chr5:60890791
ERCC8not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr5:60186697
GRCh38:
Chr5:60890870
ERCC8not providedLikely benign
(Dec 3, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr5:60186708
GRCh38:
Chr5:60890881
ERCC8not providedLikely benign
(Feb 18, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr5:60186715
GRCh38:
Chr5:60890888
ERCC8not providedPathogenic
(Aug 27, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr5:60186716
GRCh38:
Chr5:60890889
ERCC8Q289H, Q194H, Q347Hnot providedUncertain significance
(Apr 6, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr5:60186724
GRCh38:
Chr5:60890897
ERCC8N345D, N192D, N287Dnot providedUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr5:60186728
GRCh38:
Chr5:60890901
ERCC8not providedLikely benign
(Aug 22, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr5:60186733
GRCh38:
Chr5:60890906
ERCC8F284L, F189L, F342Lnot providedUncertain significance
(Mar 29, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr5:60186734
GRCh38:
Chr5:60890907
ERCC8Cockayne syndrome type 1, not providedConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr5:60186734
GRCh38:
Chr5:60890907
ERCC8not providedLikely benign
(Oct 19, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr5:60186740
GRCh38:
Chr5:60890913
ERCC8not providedLikely benign
(Oct 27, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr5:60186740
GRCh38:
Chr5:60890913
ERCC8C339*, C281*, C186*not providedPathogenic
(Sep 15, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr5:60186741
GRCh38:
Chr5:60890914
ERCC8C339Y, C186Y, C281Ynot providedLikely pathogenicno assertion criteria provided
92.
GRCh37:
Chr5:60186742
GRCh38:
Chr5:60890915
ERCC8C281G, C339G, C186Gnot providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr5:60186745
GRCh38:
Chr5:60890918
ERCC8D338N, D185N, D280Nnot provided, UV-sensitive syndrome 2, Cockayne syndrome type 1,
Cockayne syndrome type 1
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr5:60186748
GRCh38:
Chr5:60890921
ERCC8V279F, V337F, V184Fnot providedUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr5:60186751
GRCh38:
Chr5:60890924
ERCC8T278fs, T336fs, T183fsCockayne syndrome type 1Uncertain significance
(Mar 1, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr5:60186763
GRCh38:
Chr5:60890936
ERCC8G274*, G332*, G179*not providedPathogenic
(Sep 23, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr5:60186766
GRCh38:
Chr5:60890939
ERCC8K273E, K331E, K178EInborn genetic diseasesUncertain significance
(Mar 6, 2023)
criteria provided, single submitter
98.
GRCh37:
Chr5:60186767
GRCh38:
Chr5:60890940
ERCC8not providedLikely benign
(Dec 21, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr5:60186772
GRCh38:
Chr5:60890945
ERCC8M271V, M176V, M329Vnot providedUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr5:60186773
GRCh38:
Chr5:60890946
ERCC8not providedLikely benign
(Jul 1, 2022)
criteria provided, single submitter
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