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Items: 1 to 100 of 647

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:65259548-84136510
GRCh38:
Chr6:64549655-83426791
ADGRB3, ADGRB3-DT, B3GAT2, BCKDHB, C6orf147, CD109, CD109-AS1, CGAS, COL12A1, COL19A1, COL9A1, COX7A2, DDX43, DOP1A, DPPA5, EEF1A1, EEF1A1-AS1, ELOVL4, ERVH-3, EYS, FAM135A, FAM135A-AS1, FILIP1, HMGN3, HMGN3-AS1, HTR1B, IBTK, IMPG1, IRAK1BP1, KCNQ5, KCNQ5-AS1, KCNQ5-DT, KCNQ5-IT1, KHDC1, KHDC1-AS1, KHDC1L, KHDC3L, LCA5, LCAL1, LINC00472, LINC01526, LINC01610, LINC01621, LINC01626, LINC02540, LINC02542, LINC02549, LMBRD1, LOC101928516, LOC101928540, LOC102723883, LOC105377858, LOC105377862, LOC113175017, LOC113175018, LOC114004403, LOC114004404, LOC121132691, LOC121132692, LOC121132693, LOC121132694, LOC121132695, LOC121740655, LOC121740656, LOC121740657, LOC122539213, LOC123744837, LOC123744838, LOC123744839, LOC123744840, LOC123744841, LOC123775374, LOC123775375, LOC123775376, LOC123775377, LOC123775378, LOC126859701, LOC126859702, LOC126859703, LOC126859704, LOC126859705, LOC126859706, LOC126859707, LOC126859708, LOC126859709, LOC126859710, LOC126859711, LOC126859712, LOC126859713, LOC126859714, LOC126859715, LOC126859716, LOC126859717, LOC126859718, LOC126859719, LOC126859720, LOC126859721, LOC126859722, LOC126859723, LOC126859724, LOC126859725, LOC126859726, LOC127898563, LOC129389546, LOC129389547, LOC129389548, LOC129389549, LOC129389550, LOC129389551, LOC129389552, LOC129389553, LOC129389554, LOC129389555, LOC129389556, LOC129389557, LOC129389558, LOC129389559, LOC129389560, LOC129389561, LOC129389562, LOC129389563, LOC129389564, LOC129389565, LOC129389566, LOC129996684, LOC129996685, LOC129996686, LOC129996687, LOC129996688, LOC129996689, LOC129996690, LOC129996691, LOC129996692, LOC129996693, LOC129996694, LOC129996695, LOC129996696, LOC129996697, LOC129996698, LOC129996699, LOC129996700, LOC129996701, LOC129996702, LOC129996703, LOC129996704, LOC129996705, LOC129996706, LOC129996707, LOC129996708, LOC129996709, LOC129996710, LOC129996711, LOC129996712, LOC129996713, LOC129996714, LOC129996715, LOC129996716, LOC129996717, LOC129996718, LOC129996719, LOC129996720, LOC129996721, LOC129996722, LOC129996723, LOC129996724, LOC129996725, LOC129996726, LOC129996727, LOC129996728, LOC129996729, LOC129996730, LOC129996731, LOC129996732, LOC129996733, LOC129996734, LOC129996735, LOC129996736, LOC129996737, LOC129996738, LOC129996739, LOC129996740, LOC129996741, LOC129996742, LOC129996743, LOC129996744, LOC129996745, LOC129996746, LOC129996747, LOC129996748, LOC129996749, LOC129996750, LOC129996751, LOC129996752, LOC129996753, LOC129996754, LOC129996755, LOC129996756, LOC129996757, LOC129996758, LOC129996759, LOC129996760, LOC129996761, LOC129996762, LOC129996763, LOC129996764, LOC132089414, LOC132089415, LOC132089416, LOC132089417, LOC132089418, LOC132089419, LOC132089420, LOC132089421, LOC132089422, LOC132089423, LOC132089424, LOC132089425, LOC132089426, LOC132089427, LOC132089428, LOC132089429, LOC132089430, LOC132089431, LOC132089432, LOC132089433, LOC132089434, LOC132089435, LOC132089436, LOC132089437, LOC132089438, LOC132089439, LOC132089440, LOC132089441, LOC132089442, LOC132089443, LOC132089444, LOC132089445, LOC132089446, LOC132089448, LOC132089449, LOC132089450, LOC132089451, LOC132089452, LOC132089453, LOC132089454, LOC132089455, LOC132089456, LOC132089457, LOC132089458, LOC132089459, LOC132089460, LOC132089461, LOC132089462, LOC132089463, LOC132089464, LOC132089465, LOC132089466, LOC132089467, LOC132089468, LOC132089469, LOC132089470, LOC132089471, LOC132089472, LOC132089473, LOC132089474, LOC132089475, LOC132089476, LOC132089477, LOC132089478, LOC132089479, LOC132089480, LOC132089481, LOC132089482, LOC132090758, LOC132090759, LOC132090760, LOC132090761, LOC132090762, LOC132090763, LOC132205963, LOC132205964, LOC132205965, ME1, MEI4, MIR10524, MIR30A, MIR30C2, MIR4282, MIR4463, MTO1, MYO6, OGFRL1, OOEP, OOEP-AS1, ORI343, PGM3, PHIP, RIMS1, RWDD2A, SDHAF4, SENP6, SH3BGRL2, SLC17A5, SMAP1, SNORD156, TENT5A, TMEM30A, TMEM30A-DT, TPBG, TTK, UBE3D, ZC3H11C
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
2.
GRCh37:
Chr6:75092523-142361637
GRCh38:
Chr6:74382807-142040500
LOC123775388, LOC123775389, LOC123775390, LOC123775391, LOC123775392, LOC123775393, LOC123775394, LOC123775395, LOC123775396, LOC123775397, LOC123775398, LOC123775399, LOC123775400, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC123833521, LOC123833522, LOC123833523, LOC123833524, LOC123833525, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC123864067, LOC123864068, LOC123864069, LOC123864070, LOC123864071, LOC123864072, LOC123864073, LOC123864074, LOC123864075, LOC123864076, LOC123864077, LOC123864078, LOC123864079, LOC123864080, LOC123864081, LOC123864082, LOC123864083, LOC123864084, LOC123864085, LOC123864086, LOC124900217, LOC126859712, LOC126859713, LOC126859714, LOC126859715, LOC126859716, LOC126859717, LOC126859718, LOC126859719, LOC126859720, LOC126859721, LOC126859722, LOC126859723, LOC126859724, LOC126859725, LOC126859726, LOC126859727, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC126859733, LOC126859734, LOC126859735, LOC126859736, LOC126859737, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC126859744, LOC126859745, LOC126859746, LOC126859747, LOC126859748, LOC126859749, LOC126859750, LOC126859751, LOC126859752, LOC126859753, LOC126859754, LOC126859755, LOC126859756, LOC126859757, LOC126859758, LOC126859759, LOC126859760, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC126859785, LOC126859786, LOC126859787, LOC126859788, LOC126859789, LOC126859790, LOC126859791, LOC126859792, LOC126859793, LOC126859794, LOC126859795, LOC126859796, LOC126859797, LOC126859798, LOC126859799, LOC126859800, LOC126859801, LOC126859802, LOC126859803, LOC126859804, LOC126859805, LOC126859806, LOC126859807, LOC126859808, LOC126859809, LOC126859810, LOC126859811, LOC127407129, LOC128092253, LOC128559983, LOC128667231, LOC128669075, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC129389559, LOC129389560, LOC129389561, LOC129389562, LOC129389563, LOC129389564, LOC129389565, LOC129389566, LOC129389567, LOC129389568, LOC129389569, LOC129389570, LOC129389571, LOC129389572, LOC129389573, LOC129389574, LOC129389575, LOC129389576, LOC129389577, LOC129389578, LOC129389579, LOC129389580, LOC129389581, LOC129389582, LOC129389583, LOC129389584, LOC129389585, LOC129389586, LOC129389587, LOC129389588, LOC129389589, LOC129389590, LOC129389591, LOC129389592, LOC129389593, LOC129389594, LOC129389595, LOC129389596, LOC129389597, LOC129389598, LOC129389599, LOC129389600, LOC129389601, LOC129389602, LOC129389603, LOC129389604, LOC129389605, LOC129389606, LOC129389607, LOC129389608, LOC129389609, LOC129389610, LOC129389611, LOC129389612, LOC129389613, LOC129389614, LOC129389615, LOC129389616, LOC129389617, LOC129389618, LOC129389619, LOC129389620, LOC129389621, LOC129389622, LOC129389623, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129389628, LOC129389629, LOC129389630, LOC129389631, LOC129389632, LOC129389633, LOC129389634, LOC129389635, LOC129389636, LOC129389637, LOC129389638, LOC129389639, LOC129389640, LOC129389641, LOC129389642, LOC129389643, LOC129389644, LOC129389645, LOC129389646, LOC129389647, LOC129389648, LOC129389649, LOC129389650, LOC129389651, LOC129389652, LOC129389653, LOC129389654, LOC129389655, LOC129389656, LOC129389657, LOC129389658, LOC129389659, LOC129389660, LOC129389661, LOC129389662, LOC129389663, LOC129389664, LOC129389665, LOC129996730, LOC129996731, LOC129996732, LOC129996733, LOC129996734, LOC129996735, LOC129996736, LOC129996737, LOC129996738, LOC129996739, LOC129996740, LOC129996741, LOC129996742, LOC129996743, LOC129996744, LOC129996745, LOC129996746, LOC129996747, LOC129996748, LOC129996749, LOC129996750, LOC129996751, LOC129996752, LOC129996753, LOC129996754, LOC129996755, LOC129996756, LOC129996757, LOC129996758, LOC129996759, LOC129996760, LOC129996761, LOC129996762, LOC129996763, LOC129996764, LOC129996765, LOC129996766, LOC129996767, LOC129996768, LOC129996769, LOC129996770, LOC129996771, LOC129996772, LOC129996773, LOC129996774, LOC129996775, LOC129996776, LOC129996777, LOC129996778, LOC129996779, LOC129996780, LOC129996781, LOC129996782, LOC129996783, LOC129996784, LOC129996785, LOC129996786, LOC129996787, LOC129996788, LOC129996789, LOC129996790, LOC129996791, LOC129996792, LOC129996793, LOC129996794, LOC129996795, LOC129996796, LOC129996797, LOC129996798, LOC129996799, LOC129996800, LOC129996801, LOC129996802, LOC129996803, LOC129996804, LOC129996805, LOC129996806, LOC129996807, LOC129996808, LOC129996809, LOC129996810, LOC129996811, LOC129996812, LOC129996813, LOC129996814, LOC129996815, LOC129996816, LOC129996817, LOC129996818, LOC129996819, LOC129996820, LOC129996821, LOC129996822, LOC129996823, LOC129996824, LOC129996825, LOC129996826, LOC129996827, LOC129996828, LOC129996829, LOC129996830, LOC129996831, LOC129996832, LOC129996833, LOC129996834, LOC129996835, LOC129996836, LOC129996837, LOC129996838, LOC129996839, LOC129996840, LOC129996841, LOC129996842, LOC129996843, LOC129996844, LOC129996845, LOC129996846, LOC129996847, LOC129996848, LOC129996849, LOC129996850, LOC129996851, LOC129996852, LOC129996853, LOC129996854, LOC129996855, LOC129996856, LOC129996857, LOC129996858, LOC129996859, LOC129996860, LOC129996861, LOC129996862, LOC129996863, LOC129996864, LOC129996865, LOC129996866, LOC129996867, LOC129996868, LOC129996869, LOC129996870, LOC129996871, LOC129996872, LOC129996873, LOC129996874, LOC129996875, LOC129996876, LOC129996877, LOC129996878, LOC129996879, LOC129996880, LOC129996881, LOC129996882, LOC129996883, LOC129996884, LOC129996885, LOC129996886, LOC129996887, LOC129996888, LOC129996889, LOC129996890, LOC129996891, LOC129996892, LOC129996893, LOC129996894, LOC129996895, LOC129996896, LOC129996897, LOC129996898, LOC129996899, LOC129996900, LOC129996901, LOC129996902, LOC129996903, LOC129996904, LOC129996905, LOC129996906, LOC129996907, LOC129996908, LOC129996909, LOC129996910, LOC129996911, LOC129996912, LOC129996913, LOC129996914, LOC129996915, LOC129996916, LOC129996917, LOC129996918, LOC129996919, LOC129996920, LOC129996921, LOC129996922, LOC129996923, LOC129996924, LOC129996925, LOC129996926, LOC129996927, LOC129996928, LOC129996929, LOC129996930, LOC129996931, LOC129996932, LOC129996933, LOC129996934, LOC129996935, LOC129996936, LOC129996937, LOC129996938, LOC129996939, LOC129996940, LOC129996941, LOC129996942, LOC129996943, LOC129996944, LOC129996945, LOC129996946, LOC129996947, LOC129996948, LOC129996949, LOC129996950, LOC129996951, LOC129996952, LOC129996953, LOC129996954, LOC129996955, LOC129996956, LOC129996957, LOC129996958, LOC129996959, LOC129996960, LOC129996961, LOC129996962, LOC129996963, LOC129996964, LOC129996965, LOC129996966, LOC129996967, LOC129996968, LOC129996969, LOC129996970, LOC129996971, LOC129996972, LOC129996973, LOC129996974, LOC129996975, LOC129996976, LOC129996977, LOC129996978, LOC129996979, LOC129996980, LOC129996981, LOC129996982, LOC129996983, LOC129996984, LOC129996985, LOC129996986, LOC129996987, LOC129996988, LOC129996989, LOC129996990, LOC129996991, LOC129996992, LOC129996993, LOC129996994, LOC129996995, LOC129996996, LOC129996997, LOC129996998, LOC129996999, LOC129997000, LOC129997001, LOC129997002, LOC129997003, LOC129997004, LOC129997005, LOC129997006, LOC129997007, LOC129997008, LOC129997009, LOC129997010, LOC129997011, LOC129997012, LOC129997013, LOC129997014, LOC129997015, LOC129997016, LOC129997017, LOC129997018, LOC129997019, LOC129997020, LOC129997021, LOC129997022, LOC129997023, LOC129997024, LOC129997025, LOC129997026, LOC129997027, LOC129997028, LOC129997029, LOC129997030, LOC129997031, LOC129997032, LOC129997033, LOC129997034, LOC129997035, LOC129997036, LOC129997037, LOC129997038, LOC129997039, LOC129997040, LOC129997041, LOC129997042, LOC129997043, LOC129997044, LOC129997045, LOC129997046, LOC129997047, LOC129997048, LOC129997049, LOC129997050, LOC129997051, LOC129997052, LOC129997053, LOC129997054, LOC129997055, LOC129997056, LOC129997057, LOC129997058, LOC129997059, LOC129997060, LOC129997061, LOC129997062, LOC129997063, LOC129997064, LOC129997065, LOC129997066, LOC129997067, LOC129997068, LOC129997069, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075, LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC129997089, LOC129997090, LOC129997091, LOC129997092, LOC129997093, LOC129997094, LOC129997095, LOC129997096, LOC129997097, LOC129997098, LOC129997099, LOC129997100, LOC129997101, LOC129997102, LOC129997103, LOC129997104, LOC129997105, LOC129997106, LOC129997107, LOC129997108, LOC129997109, LOC129997110, LOC129997111, LOC129997112, LOC129997113, LOC129997114, LOC129997115, LOC129997116, LOC129997117, LOC129997118, LOC129997119, LOC129997120, LOC129997121, LOC129997122, LOC129997123, LOC129997124, LOC129997125, LOC129997126, LOC129997127, LOC129997128, LOC129997129, LOC129997130, LOC129997131, LOC129997132, LOC129997133, LOC129997134, LOC129997135, LOC129997136, LOC129997137, LOC129997138, LOC129997139, LOC129997140, LOC129997141, LOC129997142, LOC129997143, LOC129997144, LOC129997145, LOC129997146, LOC129997147, LOC129997148, LOC129997149, LOC129997150, LOC129997151, LOC129997152, LOC129997153, LOC129997154, LOC129997155, LOC129997156, LOC129997157, LOC129997158, LOC129997159, LOC129997160, LOC129997161, LOC129997162, LOC129997163, LOC129997164, LOC129997165, LOC129997166, LOC129997167, LOC129997168, LOC129997169, LOC129997170, LOC129997171, LOC129997172, LOC129997173, LOC129997174, LOC129997175, LOC129997176, LOC129997177, LOC129997178, LOC129997179, LOC129997180, LOC129997181, LOC129997182, LOC129997183, LOC129997184, LOC129997185, LOC129997186, LOC129997187, LOC129997188, LOC129997189, LOC129997190, LOC129997191, LOC129997192, LOC129997193, LOC129997194, LOC129997195, LOC129997196, LOC129997197, LOC129997198, LOC129997199, LOC129997200, LOC129997201, LOC129997202, LOC129997203, LOC129997204, LOC129997205, LOC129997206, LOC129997207, LOC129997208, LOC129997209, LOC129997210, LOC129997211, LOC129997212, LOC129997213, LOC129997214, LOC129997215, LOC129997216, LOC129997217, LOC129997218, LOC129997219, LOC129997220, LOC129997221, LOC129997222, LOC129997223, LOC129997224, LOC129997225, LOC129997226, LOC129997227, LOC129997228, LOC129997229, LOC129997230, LOC129997231, LOC129997232, LOC129997233, LOC129997234, LOC129997235, LOC129997236, LOC129997237, LOC129997238, LOC129997239, LOC129997240, LOC129997241, LOC129997242, LOC129997243, LOC129997244, LOC129997245, LOC129997246, LOC129997247, LOC129997248, LOC129997249, LOC129997250, LOC129997251, LOC129997252, LOC129997253, LOC129997254, LOC129997255, LOC129997256, LOC129997257, LOC129997258, LOC129997259, LOC129997260, LOC129997261, LOC129997262, LOC129997263, LOC129997264, LOC129997265, LOC129997266, LOC129997267, LOC129997268, LOC129997269, LOC129997270, LOC129997271, LOC129997272, LOC129997273, LOC129997274, LOC129997275, LOC129997276, LOC129997277, LOC129997278, LOC129997279, LOC129997280, LOC129997281, LOC129997282, LOC129997283, LOC129997284, LOC129997285, LOC129997286, LOC129997287, LOC129997288, LOC129997289, LOC129997290, LOC129997291, LOC129997292, LOC129997293, LOC129997294, LOC129997295, LOC129997296, LOC129997297, LOC129997298, LOC129997299, LOC129997300, LOC129997301, LOC129997302, LOC129997303, LOC129997304, LOC129997305, LOC129997306, LOC129997307, LOC129997308, LOC129997309, LOC129997310, LOC129997311, LOC129997312, LOC129997313, LOC129997314, LOC129997315, LOC132089305, LOC132089306, LOC132089307, LOC132089308, LOC132089309, LOC132089310, LOC132089311, LOC132089312, LOC132089313, LOC132089314, LOC132089315, LOC132089316, LOC132089317, LOC132089318, LOC132089319, LOC132089320, LOC132089321, LOC132089322, LOC132089323, LOC132089324, LOC132089325, LOC132089326, LOC132089327, LOC132089328, LOC132089329, LOC132089330, LOC132089331, LOC132089332, LOC132089333, LOC132089334, LOC132089335, LOC132089336, LOC132089337, LOC132089338, LOC132089339, LOC132089340, LOC132089341, LOC132089342, LOC132089343, LOC132089344, LOC132089345, LOC132089346, LOC132089347, LOC132089348, LOC132089349, LOC132089350, LOC132089351, LOC132089352, LOC132089353, LOC132089354, LOC132089355, LOC132089356, LOC132089357, LOC132089358, LOC132089359, LOC132089360, LOC132089361, LOC132089362, LOC132089363, LOC132089364, LOC132089365, LOC132089366, LOC132089367, LOC132089368, LOC132089369, LOC132089370, LOC132089460, LOC132089461, LOC132089462, LOC132089463, LOC132089464, LOC132089465, LOC132089466, LOC132089467, LOC132089468, LOC132089469, LOC132089470, LOC132089471, LOC132089472, LOC132089473, LOC132089474, LOC132089475, LOC132089476, LOC132089477, LOC132089478, LOC132089479, LOC132089480, LOC132089481, LOC132089482, LOC132089501, LOC132089502, LOC132089503, LOC132090762, LOC132090763, LOC132090764, LOC132090765, LOC132090766, LOC132090767, LOC132090768, LOC132090769, LOC132090770, LOC132205965, LOC285762, LYRM2, MAN1A1, MANEA, MANEA-DT, MAP3K5, MAP3K5-AS1, MAP3K5-AS2, MAP3K7, MAP7, MAP7-AS1, MARCKS, MCHR2, MCHR2-AS1, MCM9, MDN1, MDN1-AS1, ME1, MED23, MEI4, METTL24, MFSD4B, MICAL1, MIR10524, MIR2113, MIR3144, MIR3145, MIR3662, MIR3668, MIR4463, MIR4464, MIR4465, MIR4643, MIR548A2, MIR548AI, MIR548AJ1, MIR548B, MIR548H5, MIR587, MIR588, MMS22L, MOXD1, MRAP2, MROCKI, MTCL3, MTFR2, ABRACL, AFG1L, AHI1, AHI1-DT, AK9, AKAP7, AKIRIN2, ALDH8A1, AMD1, ANKRD6, ARFGEF3, ARG1, ARHGAP18, ARMC2, ARMC2-AS1, ASCC3, ASF1A, ATG5, BACH2, BCKDHB, BCLAF1, BEND3, BVES, BVES-AS1, C6orf163, C6orf183, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CASC6, CASP8AP2, CCDC28A, CCDC28A-AS1, CCN2, CCN2-AS1, CCN6, CCNC, CD164, CD24, CDC40, CDK19, CENPW, CEP162, CEP57L1, CEP85L, CFAP206, CGA, CITED2, CLVS2, CNR1, COL10A1, COL12A1, COQ3, COX7A2, CRE2, CRYBG1, CT69, CTAGE9, CYB5R4, DCBLD1, DDO, DOP1A, DSE, ECHDC1, ECT2L, ELOVL4, ENPP1, ENPP3, EPB41L2, EPHA7, EYA4, FABP7, FAM162B, FAM184A, FAM229B, FAXC, FBXL4, FHL5, FIG4, FILIP1, FILNC1, FOXO3, FRK, FUT9, FYN, GABRR1, GABRR2, GJA1, GJA10, GJB7, GOPC, GPR6, GPR63, GPRC6A, GRIK2, GTF3C6, HACE1, HBS1L, HDAC2, HDAC2-AS2, HDDC2, HEBP2, HECA, HEY2, HEY2-AS1, HINT3, HMGN3, HMGN3-AS1, HS3ST5, HSF2, HTR1B, HTR1E, IBTK, IFNGR1, IL20RA, IL22RA2, IMPG1, IRAK1BP1, KIAA0408, KLHL32, KPNA5, L3MBTL3, LAMA2, LAMA4, LAMA4-AS1, LCA5, LCAL1, LIN28B, LIN28B-AS1, LINC00222, LINC00326, LINC01010, LINC01013, LINC01312, LINC01526, LINC01590, LINC01611, LINC01621, LINC01625, LINC02518, LINC02523, LINC02524, LINC02526, LINC02527, LINC02531, LINC02532, LINC02534, LINC02535, LINC02539, LINC02540, LINC02541, LINC02542, LINC02836, LINC02865, LINC02880, LINC02941, LINC03002, LINC03004, LNCPOIR, LOC100126584, LOC100287467, LOC101927314, LOC101927919, LOC101928373, LOC101928516, LOC101928540, LOC101928911, LOC101928936, LOC102723341, LOC102723690, LOC102724646, LOC103352541, LOC105377858, LOC105377862, LOC105377879, LOC105377924, LOC105377967, LOC105377975, LOC108169207, LOC108228196, LOC108281144, LOC108348029, LOC110120646, LOC110120647, LOC110120704, LOC110120705, LOC110120709, LOC110120741, LOC110120818, LOC110120970, LOC110120984, LOC110120985, LOC110120999, LOC110121032, LOC110121036, LOC110121046, LOC110121073, LOC110121109, LOC110121145, LOC110121174, LOC110121188, LOC110121195, LOC110121249, LOC110121273, LOC110121301, LOC111365199, LOC111365204, LOC111413030, LOC111413038, LOC111413040, LOC111429613, LOC111589214, LOC113121299, LOC113121300, LOC113121301, LOC113121302, LOC113121303, LOC113121304, LOC113146409, LOC113146413, LOC113146414, LOC113146415, LOC113146417, LOC113146418, LOC113175019, LOC113175020, LOC114803478, LOC116183065, LOC116183066, LOC116183067, LOC116183068, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074, LOC121132695, LOC121132696, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121132701, LOC121132702, LOC121132703, LOC121132704, LOC121132705, LOC121132706, LOC121132707, LOC121132708, LOC121740657, LOC121740658, LOC121740659, LOC121740660, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC121740666, LOC121740667, LOC123775374, LOC123775375, LOC123775376, LOC123775377, LOC123775378, LOC123775379, LOC123775380, LOC123775381, LOC123775382, LOC123775383, LOC123775384, LOC123775385, LOC123775386, LOC123775387, MTRES1, MYB, MYO6, NCOA7, NCOA7-AS1, NDUFAF4, NHEG1, NHSL1, NHSL1-AS1, NKAIN2, NR2E1, NT5DC1, NT5E, NUS1, OLIG3, OR2A4, ORC3, OSTM1, OSTM1-AS1, PBOV1, PDE7B, PDE7B-AS1, PDSS2, PERP, PEX7, PGM3, PHIP, PKIB, PLN, PM20D2, PNISR, PNISR-AS1, PNKY, PNRC1, PNRC1-DT, POPDC3, POU3F2, PPIL6, PRDM1, PRDM13, PREP, PRSS35, PTPRK, PTPRK-AS1, QRSL1, RARS2, REPS1, REV3L, RFPL4B, RFX6, RIPPLY2, RIPPLY2-CYB5R4, RNF146, RNF217, RNF217-AS1, RNGTT, ROS1, RPF2, RPS12, RRAGD, RSPH4A, RSPO3, RTN4IP1, RWDD1, RWDD2A, SAMD3, SCML4, SEC63, SENP6, SERINC1, SESN1, SGK1, SH3BGRL2, SIM1, SIM1-AS1, SIMALR, SLC16A10, SLC18B1, SLC22A16, SLC2A12, SLC35A1, SLC35D3, SLC35F1, SMIM28, SMIM8, SMLR1, SMPD2, SMPDL3A, SNAP91, SNHG5, SNORA33, SNORA40C, SNORD100, SNORD101, SNORD156, SNORD166, SNORD50A, SNORD50B, SNX14, SNX3, SOBP, SOGA3-KIAA0408, SPACA1, SRSF12, STX7, SYNCRIP, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TARID, TBC1D32, TBPL1, TBX18, TBX18-AS1, TCF21, TENT5A, THEMIS, TMEM200A, TMEM244, TMEM30A, TMEM30A-DT, TNFAIP3, TPBG, TPD52L1, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSG1, TSPYL1, TSPYL4, TSTD3, TTK, TUBE1, TXLNB, UBE2J1, UBE3D, UFL1, UFL1-AS1, USP45, VGLL2, VNN1, VNN2, VNN3, WAKMAR2, WASF1, ZBTB24, ZBTB24-DT, ZNF292, ZUP1
See casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
3.
GRCh37:
Chr6:76635916-93420511
GRCh38:
Chr6:75926199-92710793
ME1, MEI4, MIR10524, MIR4464, MIR4643, MRAP2, NT5E, ORC3, PGM3, PHIP, PM20D2, PNRC1, PNRC1-DT, PRSS35, RARS2, RIPPLY2, RIPPLY2-CYB5R4, RNGTT, RRAGD, RWDD2A, SH3BGRL2, SLC35A1, SMIM8, SNAP91, SNHG5, SNORD50A, SNORD50B, SNX14, SPACA1, SRSF12, SYNCRIP, TBX18, TBX18-AS1, TENT5A, TPBG, TTK, UBE2J1, UBE3D, ZNF292, AKIRIN2, ANKRD6, BACH2, BCKDHB, C6orf163, CASC6, CASP8AP2, CEP162, CFAP206, CGA, CNR1, CYB5R4, DOP1A, ELOVL4, GABRR1, GABRR2, GJA10, GJB7, HMGN3, HMGN3-AS1, HTR1B, HTR1E, IBTK, IMPG1, IRAK1BP1, LCA5, LCAL1, LINC01526, LINC01590, LINC01611, LINC01621, LINC02531, LINC02535, LINC02540, LINC02542, LOC101928911, LOC101928936, LOC105377862, LOC105377879, LOC108348029, LOC110121249, LOC111413030, LOC111429613, LOC113175019, LOC113175020, LOC116183065, LOC116183066, LOC121132695, LOC121132696, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121740657, LOC121740658, LOC123775376, LOC123775377, LOC123775378, LOC123775379, LOC123775380, LOC123775381, LOC123775382, LOC123775383, LOC123775384, LOC123775385, LOC126859715, LOC126859716, LOC126859717, LOC126859718, LOC126859719, LOC126859720, LOC126859721, LOC126859722, LOC126859723, LOC126859724, LOC126859725, LOC126859726, LOC126859727, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC126859733, LOC126859734, LOC126859735, LOC126859736, LOC126859737, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC126859744, LOC126859745, LOC126859746, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC129389559, LOC129389560, LOC129389561, LOC129389562, LOC129389563, LOC129389564, LOC129389565, LOC129389566, LOC129389567, LOC129389568, LOC129389569, LOC129389570, LOC129389571, LOC129389572, LOC129389573, LOC129389574, LOC129389575, LOC129389576, LOC129389577, LOC129389578, LOC129389579, LOC129389580, LOC129389581, LOC129389582, LOC129996740, LOC129996741, LOC129996742, LOC129996743, LOC129996744, LOC129996745, LOC129996746, LOC129996747, LOC129996748, LOC129996749, LOC129996750, LOC129996751, LOC129996752, LOC129996753, LOC129996754, LOC129996755, LOC129996756, LOC129996757, LOC129996758, LOC129996759, LOC129996760, LOC129996761, LOC129996762, LOC129996763, LOC129996764, LOC129996765, LOC129996766, LOC129996767, LOC129996768, LOC129996769, LOC129996770, LOC129996771, LOC129996772, LOC129996773, LOC129996774, LOC129996775, LOC129996776, LOC129996777, LOC129996778, LOC129996779, LOC129996780, LOC129996781, LOC129996782, LOC129996783, LOC129996784, LOC129996785, LOC129996786, LOC129996787, LOC129996788, LOC129996789, LOC129996790, LOC129996791, LOC129996792, LOC129996793, LOC129996794, LOC129996795, LOC129996796, LOC129996797, LOC129996798, LOC129996799, LOC129996800, LOC129996801, LOC129996802, LOC129996803, LOC129996804, LOC129996805, LOC129996806, LOC129996807, LOC129996808, LOC129996809, LOC129996810, LOC129996811, LOC129996812, LOC129996813, LOC129996814, LOC129996815, LOC129996816, LOC129996817, LOC129996818, LOC129996819, LOC129996820, LOC129996821, LOC129996822, LOC129996823, LOC129996824, LOC129996825, LOC129996826, LOC129996827, LOC129996828, LOC129996829, LOC129996830, LOC129996831, LOC129996832, LOC129996833, LOC129996834, LOC129996835, LOC129996836, LOC129996837, LOC129996838, LOC129996839, LOC129996840, LOC129996841, LOC129996842, LOC129996843, LOC129996844, LOC132089464, LOC132089465, LOC132089466, LOC132089467, LOC132089468, LOC132089469, LOC132089470, LOC132089471, LOC132089472, LOC132089473, LOC132089474, LOC132089475, LOC132089476, LOC132089477, LOC132089478, LOC132089479, LOC132089480, LOC132089481, LOC132089482, LOC132089501, LOC132089502, LOC132090762, LOC132090763, LOC132205965, LYRM2, MAP3K7, MDN1, MDN1-AS1
See casesPathogenic
(Jul 16, 2013)
no assertion criteria provided
4.
GRCh37:
Chr6:79370893-80955249
GRCh38:
Chr6:78661176-80245532
See casesUncertain significance
(Nov 26, 2012)
no assertion criteria provided
5.
GRCh37:
Chr6:80816145
GRCh38:
Chr6:80106428
BCKDHBnot providedBenign
(Aug 14, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr6:80816296
GRCh38:
Chr6:80106579
BCKDHBnot providedBenign
(Mar 3, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr6:80816340
GRCh38:
Chr6:80106623
BCKDHBnot providedLikely benign
(Dec 20, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr6:80816344-80816606
GRCh38:
Chr6:80106627-80106889
BCKDHBMaple syrup urine diseasePathogenic
(Jan 1, 2014)
criteria provided, single submitter
9.
GRCh37:
Chr6:80816370
GRCh38:
Chr6:80106653
BCKDHBMaple syrup urine diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr6:80816388-80816413
GRCh38:
Chr6:80106671-80106696
BCKDHBM1fsMaple syrup urine diseaseLikely pathogenic
(May 8, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr6:80816396
GRCh38:
Chr6:80106679
BCKDHBMaple syrup urine diseaseUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr6:80816411
GRCh38:
Chr6:80106694
BCKDHBM1VMaple syrup urine diseasePathogenic/Likely pathogenic
(Jul 25, 2023)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr6:80816411
GRCh38:
Chr6:80106694
BCKDHBM1LMaple syrup urine diseasePathogenic/Likely pathogenic
(Aug 28, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr6:80816412-80816413
GRCh38:
Chr6:80106695-80106696
BCKDHBMaple syrup urine diseaseUncertain significance
(Jun 10, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr6:80816412
GRCh38:
Chr6:80106695
BCKDHBM1TMaple syrup urine diseasePathogenic/Likely pathogenic
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr6:80816413
GRCh38:
Chr6:80106696
BCKDHBM1IMaple syrup urine diseasePathogenic
(Jan 1, 2014)
criteria provided, single submitter
17.
GRCh37:
Chr6:80816415
GRCh38:
Chr6:80106698
BCKDHBA2VMaple syrup urine diseaseUncertain significance
(Jun 19, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr6:80816416
GRCh38:
Chr6:80106699
BCKDHBMaple syrup urine diseaseLikely benign
(Nov 26, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr6:80816416
GRCh38:
Chr6:80106699
BCKDHBMaple syrup urine diseaseLikely benign
(Oct 25, 2019)
criteria provided, single submitter
20.
GRCh37:
Chr6:80816419
GRCh38:
Chr6:80106702
BCKDHBMaple syrup urine diseaseLikely benign
(Jan 7, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr6:80816420
GRCh38:
Chr6:80106703
BCKDHBV4LInborn genetic diseasesUncertain significance
(Nov 21, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr6:80816420
GRCh38:
Chr6:80106703
BCKDHBV4IMaple syrup urine diseaseUncertain significance
(Oct 31, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr6:80816422
GRCh38:
Chr6:80106705
BCKDHBMaple syrup urine diseaseLikely benign
(Mar 27, 2019)
criteria provided, single submitter
24.
GRCh37:
Chr6:80816424-80816433
GRCh38:
Chr6:80106707-80106716
BCKDHBA7fsMaple syrup urine diseaseLikely pathogenic
(Apr 20, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr6:80816425
GRCh38:
Chr6:80106708
BCKDHBMaple syrup urine diseaseLikely benign
(Sep 27, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr6:80816425
GRCh38:
Chr6:80106708
BCKDHBMaple syrup urine diseaseLikely benign
(Oct 9, 2019)
criteria provided, single submitter
27.
GRCh37:
Chr6:80816427
GRCh38:
Chr6:80106710
BCKDHBA6VMaple syrup urine disease, not providedLikely benign
(Oct 23, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr6:80816428
GRCh38:
Chr6:80106711
BCKDHBMaple syrup urine diseaseLikely benign
(Nov 1, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr6:80816428
GRCh38:
Chr6:80106711
BCKDHBMaple syrup urine diseaseLikely benign
(Oct 3, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr6:80816428
GRCh38:
Chr6:80106711
BCKDHBMaple syrup urine diseaseLikely benign
(Apr 4, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr6:80816429
GRCh38:
Chr6:80106712
BCKDHBA7TMaple syrup urine diseaseUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr6:80816430-80816431
GRCh38:
Chr6:80106713-80106714
BCKDHBA8fsMaple syrup urine diseasePathogenic
(Jul 3, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr6:80816433
GRCh38:
Chr6:80106716
BCKDHBA8GMaple syrup urine diseaseUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr6:80816434-80816435
GRCh38:
Chr6:80106717-80106718
BCKDHBR13fsMaple syrup urine diseasePathogenic
(Jun 1, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr6:80816434
GRCh38:
Chr6:80106717
BCKDHBMaple syrup urine diseaseLikely benign
(Aug 30, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr6:80816434
GRCh38:
Chr6:80106717
BCKDHBMaple syrup urine diseaseLikely benign
(Aug 23, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr6:80816434
GRCh38:
Chr6:80106717
BCKDHBMaple syrup urine diseaseLikely benign
(May 11, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr6:80816435-80816438
GRCh38:
Chr6:80106718-80106721
BCKDHBW10fsMaple syrup urine diseasePathogenic
(Jul 22, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr6:80816435
GRCh38:
Chr6:80106718
BCKDHBG9SMaple syrup urine diseaseLikely benign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr6:80816436
GRCh38:
Chr6:80106719
BCKDHBG9AMaple syrup urine diseaseUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr6:80816437
GRCh38:
Chr6:80106720
BCKDHBMaple syrup urine diseaseLikely benign
(Mar 21, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr6:80816443
GRCh38:
Chr6:80106726
BCKDHBMaple syrup urine diseaseLikely benign
(Jan 19, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr6:80816443
GRCh38:
Chr6:80106726
BCKDHBMaple syrup urine diseaseLikely benign
(Jun 12, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr6:80816443
GRCh38:
Chr6:80106726
BCKDHBMaple syrup urine diseaseLikely benign
(Oct 28, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr6:80816443-80816444
GRCh38:
Chr6:80106726-80106727
BCKDHBL12fsnot provided, Maple syrup urine diseaseConflicting interpretations of pathogenicity
(Jun 23, 2022)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr6:80816446
GRCh38:
Chr6:80106729
BCKDHBMaple syrup urine disease type 1BUncertain significance
(Apr 13, 2020)
no assertion criteria provided
47.
GRCh37:
Chr6:80816446
GRCh38:
Chr6:80106729
BCKDHBMaple syrup urine diseaseLikely benign
(May 8, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr6:80816447
GRCh38:
Chr6:80106730
BCKDHBR13GMaple syrup urine diseaseUncertain significance
(Aug 4, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr6:80816452
GRCh38:
Chr6:80106735
BCKDHBMaple syrup urine diseaseLikely benign
(Feb 2, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr6:80816453
GRCh38:
Chr6:80106736
BCKDHBMaple syrup urine diseaseLikely benign
(Aug 13, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr6:80816457
GRCh38:
Chr6:80106740
BCKDHBA16EMaple syrup urine diseaseUncertain significance
(Jun 18, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr6:80816458
GRCh38:
Chr6:80106741
BCKDHBMaple syrup urine diseaseLikely benign
(Feb 13, 2019)
criteria provided, single submitter
53.
GRCh37:
Chr6:80816458
GRCh38:
Chr6:80106741
BCKDHBMaple syrup urine diseaseLikely benign
(Mar 14, 2020)
criteria provided, single submitter
54.
GRCh37:
Chr6:80816460-80816461
GRCh38:
Chr6:80106743-80106744
BCKDHBH22fsMaple syrup urine diseasePathogenic
(Sep 13, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr6:80816461
GRCh38:
Chr6:80106744
BCKDHBnot specified, Maple syrup urine diseaseConflicting interpretations of pathogenicity
(Oct 20, 2022)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr6:80816461
GRCh38:
Chr6:80106744
BCKDHBnot provided, Maple syrup urine diseaseConflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr6:80816466
GRCh38:
Chr6:80106749
BCKDHBA19VMaple syrup urine diseaseUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr6:80816466-80816467
GRCh38:
Chr6:80106749-80106750
BCKDHBA19fsMaple syrup urine diseaseLikely pathogenic
(Mar 2, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr6:80816473
GRCh38:
Chr6:80106756
BCKDHBMaple syrup urine diseaseLikely benign
(Mar 14, 2020)
criteria provided, single submitter
60.
GRCh37:
Chr6:80816473
GRCh38:
Chr6:80106756
BCKDHBnot specified, Maple syrup urine diseaseBenign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr6:80816480-80816481
GRCh38:
Chr6:80106763-80106764
BCKDHBMaple syrup urine diseasePathogenic
(Oct 3, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr6:80816482
GRCh38:
Chr6:80106765
BCKDHBMaple syrup urine diseaseLikely benign
(Jun 26, 2020)
criteria provided, single submitter
63.
GRCh37:
Chr6:80816487
GRCh38:
Chr6:80106770
BCKDHBL26PMaple syrup urine diseaseUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr6:80816489
GRCh38:
Chr6:80106772
BCKDHBP27Snot specifiedUncertain significance
(Jul 24, 2023)
criteria provided, single submitter
65.
GRCh37:
Chr6:80816489-80816499
GRCh38:
Chr6:80106772-80106782
BCKDHBP27fsMaple syrup urine diseasePathogenic/Likely pathogenic
(Nov 7, 2021)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr6:80816489-80816490
GRCh38:
Chr6:80106772-80106773
BCKDHBF35fsMaple syrup urine disease type 1B, Maple syrup urine diseasePathogenic/Likely pathogenic
(Apr 12, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr6:80816490-80816500
GRCh38:
Chr6:80106773-80106783
BCKDHBA32fsMaple syrup urine disease, not provided, Maple syrup urine disease type 1B
Pathogenic
(Oct 10, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr6:80816494
GRCh38:
Chr6:80106777
BCKDHBMaple syrup urine diseaseLikely benign
(Sep 18, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr6:80816496
GRCh38:
Chr6:80106779
BCKDHBA29VMaple syrup urine disease, not specifiedConflicting interpretations of pathogenicity
(Nov 3, 2022)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr6:80816500
GRCh38:
Chr6:80106783
BCKDHBMaple syrup urine diseaseLikely benign
(Oct 8, 2020)
criteria provided, single submitter
71.
GRCh37:
Chr6:80816502
GRCh38:
Chr6:80106785
BCKDHBL31PMaple syrup urine diseaseUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr6:80816503
GRCh38:
Chr6:80106786
BCKDHBA32fsMaple syrup urine diseasePathogenic
(Mar 8, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr6:80816506
GRCh38:
Chr6:80106789
BCKDHBMaple syrup urine diseaseLikely benign
(Sep 12, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr6:80816507
GRCh38:
Chr6:80106790
BCKDHBR33fsMaple syrup urine diseaseLikely pathogenic
(Apr 4, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr6:80816508
GRCh38:
Chr6:80106791
BCKDHBG34fsMaple syrup urine diseasePathogenic
(Sep 28, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr6:80816508
GRCh38:
Chr6:80106791
BCKDHBR33QMaple syrup urine diseaseUncertain significance
(Aug 7, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr6:80816509
GRCh38:
Chr6:80106792
BCKDHBMaple syrup urine diseaseLikely benign
(Jan 26, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr6:80816510
GRCh38:
Chr6:80106793
BCKDHBG34SInborn genetic diseases, Maple syrup urine diseaseUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr6:80816512
GRCh38:
Chr6:80106795
BCKDHBMaple syrup urine diseaseLikely benign
(Mar 25, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr6:80816512-80816513
GRCh38:
Chr6:80106795-80106796
BCKDHBL36fsMaple syrup urine diseasePathogenic
(May 29, 2019)
criteria provided, single submitter
81.
GRCh37:
Chr6:80816521
GRCh38:
Chr6:80106804
BCKDHBMaple syrup urine diseaseLikely benign
(Aug 22, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr6:80816524
GRCh38:
Chr6:80106807
BCKDHBMaple syrup urine diseaseLikely benign
(Apr 13, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr6:80816525
GRCh38:
Chr6:80106808
BCKDHBA39TMaple syrup urine diseaseUncertain significance
(Jul 8, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr6:80816527
GRCh38:
Chr6:80106810
BCKDHBMaple syrup urine diseaseLikely benign
(May 30, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr6:80816529
GRCh38:
Chr6:80106812
BCKDHBA40VMaple syrup urine diseaseUncertain significance
(Jan 5, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr6:80816530
GRCh38:
Chr6:80106813
BCKDHBMaple syrup urine diseaseLikely benign
(Apr 11, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr6:80816530
GRCh38:
Chr6:80106813
BCKDHBMaple syrup urine diseaseLikely benign
(Feb 11, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr6:80816532
GRCh38:
Chr6:80106815
BCKDHBT41Inot specified, Maple syrup urine diseaseBenign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr6:80816536
GRCh38:
Chr6:80106819
BCKDHBMaple syrup urine diseaseLikely benign
(May 4, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr6:80816541
GRCh38:
Chr6:80106824
BCKDHBD44GMaple syrup urine diseaseUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr6:80816545
GRCh38:
Chr6:80106828
BCKDHBMaple syrup urine diseaseLikely benign
(Apr 8, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr6:80816548
GRCh38:
Chr6:80106831
BCKDHBMaple syrup urine diseaseLikely benign
(Apr 30, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr6:80816549-80816559
GRCh38:
Chr6:80106832-80106842
BCKDHBQ47fsMaple syrup urine diseaseLikely pathogenic
(Nov 1, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr6:80816554-80816555
GRCh38:
Chr6:80106837-80106838
BCKDHBMaple syrup urine diseaseLikely benign
(Mar 18, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr6:80816555
GRCh38:
Chr6:80106838
BCKDHBMaple syrup urine diseaseLikely benign
(Dec 7, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr6:80816562
GRCh38:
Chr6:80106845
BCKDHBV51fsMaple syrup urine diseasePathogenic
(Aug 2, 2023)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr6:80816568
GRCh38:
Chr6:80106851
BCKDHBH53Pnot providedUncertain significance
(Sep 3, 2013)
criteria provided, single submitter
98.
GRCh37:
Chr6:80816573-80816574
GRCh38:
Chr6:80106856-80106857
BCKDHBT55fsMaple syrup urine diseaseLikely pathogenic
(Mar 31, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr6:80816575
GRCh38:
Chr6:80106858
BCKDHBMaple syrup urine diseaseLikely benign
(Aug 7, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr6:80816578
GRCh38:
Chr6:80106861
BCKDHBMaple syrup urine diseaseLikely benign
(Oct 19, 2022)
criteria provided, single submitter
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