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Items: 1 to 100 of 134

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr20:80198-62908674
GRCh38:
Chr20:99557-64277321
LOC130065735, LOC130065736, LOC130065737, LOC130065738, LOC130065739, LOC130065740, LOC130065741, LOC130065742, LOC130065743, LOC130065744, LOC130065745, LOC130065746, LOC130065747, LOC130065748, LOC130065749, LOC130065750, LOC130065751, LOC130065752, LOC130065753, LOC130065754, LOC130065755, LOC130065756, LOC130065757, LOC130065758, LOC130065759, LOC130065760, LOC130065761, LOC130065762, LOC130065763, LOC130065764, LOC130065765, LOC130065766, LOC130065767, LOC130065768, LOC130065769, LOC130065770, LOC130065771, LOC130065772, LOC130065773, LOC130065774, LOC130065775, LOC130065776, LOC130065777, LOC130065778, LOC130065779, LOC130065780, LOC130065781, LOC130065782, LOC130065783, LOC130065784, LOC130065785, LOC130065786, LOC130065787, LOC130065788, LOC130065789, LOC130065790, LOC130065791, LOC130065792, LOC130065793, LOC130065794, LOC130065795, LOC130065796, LOC130065797, LOC130065798, LOC130065799, LOC130065800, LOC130065801, LOC130065802, LOC130065803, LOC130065804, LOC130065805, LOC130065806, LOC130065807, LOC130065808, LOC130065809, LOC130065810, LOC130065811, LOC130065812, LOC130065813, LOC130065814, LOC130065815, LOC130065816, LOC130065817, LOC130065818, LOC130065819, LOC130065820, LOC130065821, LOC130065822, LOC130065823, LOC130065824, LOC130065825, LOC130065826, LOC130065827, LOC130065828, LOC130065829, LOC130065830, LOC130065831, LOC130065832, LOC130065833, LOC130065834, LOC130065835, LOC130065836, LOC130065837, LOC130065838, LOC130065839, LOC130065840, LOC130065841, LOC130065842, LOC130065843, LOC130065844, LOC130065845, LOC130065846, LOC130065847, LOC130065848, LOC130065849, LOC130065850, LOC130065851, LOC130065852, LOC130065853, LOC130065854, LOC130065855, LOC130065856, LOC130065857, LOC130065858, LOC130065859, LOC130065860, LOC130065861, LOC130065862, LOC130065863, LOC130065864, LOC130065865, LOC130065866, LOC130065867, LOC130065868, LOC130065869, LOC130065870, LOC130065871, LOC130065872, LOC130065873, LOC130065874, LOC130065875, LOC130065876, LOC130065877, LOC130065878, LOC130065879, LOC130065880, LOC130065881, LOC130065882, LOC130065883, LOC130065884, LOC130065885, LOC130065886, LOC130065887, LOC130065888, LOC130065889, LOC130065890, LOC130065891, LOC130065892, LOC130065893, LOC130065894, LOC130065895, LOC130065896, LOC130065897, LOC130065898, LOC130065899, LOC130065900, LOC130065901, LOC130065902, LOC130065903, LOC130065904, LOC130065905, LOC130065906, LOC130065907, LOC130065908, LOC130065909, LOC130065910, LOC130065911, LOC130065912, LOC130065913, LOC130065914, LOC130065915, LOC130065916, LOC130065917, LOC130065918, LOC130065919, LOC130065920, LOC130065921, LOC130065922, LOC130065923, LOC130065924, LOC130065925, LOC130065926, LOC130065927, LOC130065928, LOC130065929, LOC130065930, LOC130065931, LOC130065932, LOC130065933, LOC130065934, LOC130065935, LOC130065936, LOC130065937, LOC130065938, LOC130065939, LOC130065940, LOC130065941, LOC130065942, LOC130065943, LOC130065944, LOC130065945, LOC130065946, LOC130065947, LOC130065948, LOC130065949, LOC130065950, LOC130065951, LOC130065952, LOC130065953, LOC130065954, LOC130065955, LOC130065956, LOC130065957, LOC130065958, LOC130065959, LOC130065960, LOC130065961, LOC130065962, LOC130065963, LOC130065964, LOC130065965, LOC130065966, LOC130065967, LOC130065968, LOC130065969, LOC130065970, LOC130065971, LOC130065972, LOC130065973, LOC130065974, LOC130065975, LOC130065976, LOC130065977, LOC130065978, LOC130065979, LOC130065980, LOC130065981, LOC130065982, LOC130065983, LOC130065984, LOC130065985, LOC130065986, LOC130065987, LOC130065988, LOC130065989, LOC130065990, LOC130065991, LOC130065992, LOC130065993, LOC130065994, LOC130065995, LOC130065996, LOC130065997, LOC130065998, LOC130065999, LOC130066000, LOC130066001, LOC130066002, LOC130066003, LOC130066004, LOC130066005, LOC130066006, LOC130066007, LOC130066008, LOC130066009, LOC130066010, LOC130066011, LOC130066012, LOC130066013, LOC130066014, LOC130066015, LOC130066016, LOC130066017, LOC130066018, LOC130066019, LOC130066020, LOC130066021, LOC130066022, LOC130066023, LOC130066024, LOC130066025, LOC130066026, LOC130066027, LOC130066028, LOC130066029, LOC130066030, LOC130066031, LOC130066032, LOC130066033, LOC130066034, LOC130066035, LOC130066036, LOC130066037, LOC130066038, LOC130066039, LOC130066040, LOC130066041, LOC130066042, LOC130066043, LOC130066044, LOC130066045, LOC130066046, LOC130066047, LOC130066048, LOC130066049, LOC130066050, LOC130066051, LOC130066052, LOC130066053, LOC130066054, LOC130066055, LOC130066056, LOC130066057, LOC130066058, LOC130066059, LOC130066060, LOC130066061, LOC130066062, LOC130066063, LOC130066064, LOC130066065, LOC130066066, LOC130066067, LOC130066068, LOC130066069, LOC130066070, LOC130066071, LOC130066072, LOC130066073, LOC130066074, LOC130066075, LOC130066076, LOC130066077, LOC130066078, LOC130066079, LOC130066080, LOC130066081, LOC130066082, LOC130066083, LOC130066084, LOC130066085, LOC130066086, LOC130066087, LOC130066088, LOC130066089, LOC130066090, LOC130066091, LOC130066092, LOC130066093, LOC130066094, LOC130066095, LOC130066096, LOC130066097, LOC130066098, LOC130066099, LOC130066100, LOC130066101, LOC130066102, LOC130066103, LOC130066104, LOC130066105, LOC130066106, LOC130066107, LOC130066108, LOC130066109, LOC130066110, LOC130066111, LOC130066112, LOC130066113, LOC130066114, LOC130066115, LOC130066116, LOC130066117, LOC130066118, LOC130066119, LOC130066120, LOC130066121, LOC130066122, LOC130066123, LOC130066124, LOC130066125, LOC130066126, LOC130066127, LOC130066128, LOC130066129, LOC130066130, LOC130066131, LOC130066132, LOC130066133, LOC130066134, LOC130066135, LOC130066136, LOC130066137, LOC130066138, LOC130066139, LOC130066140, LOC130066141, LOC130066142, LOC130066143, LOC130066144, LOC130066145, LOC130066146, LOC130066147, LOC130066148, LOC130066149, LOC130066150, LOC130066151, LOC130066152, LOC130066153, LOC130066154, LOC130066155, LOC130066156, LOC130066157, LOC130066158, LOC130066159, LOC130066160, LOC130066161, LOC130066162, LOC130066163, LOC130066164, LOC130066165, LOC130066166, LOC130066167, LOC130066168, LOC130066169, LOC130066170, LOC130066171, LOC130066172, LOC130066173, LOC130066174, LOC130066175, LOC130066176, LOC130066177, LOC130066178, LOC130066179, LOC130066180, LOC130066181, LOC130066182, LOC130066183, LOC130066184, LOC130066185, LOC130066186, LOC130066187, LOC130066188, LOC130066189, LOC130066190, LOC130066191, LOC130066192, LOC130066193, LOC130066194, LOC130066195, LOC130066196, LOC130066197, LOC130066198, LOC130066199, LOC130066200, LOC130066201, LOC130066202, LOC130066203, LOC130066204, LOC130066205, LOC130066206, LOC130066207, LOC130066208, LOC130066209, LOC130066210, LOC130066211, LOC130066212, LOC130066213, LOC130066214, LOC130066215, LOC130066216, LOC130066217, LOC130066218, LOC130066219, LOC130066220, LOC130066221, LOC130066222, LOC130066223, LOC130066224, LOC130066225, LOC130066226, LOC130066227, LOC130066228, LOC130066229, LOC130066230, LOC130066231, LOC130066232, LOC130066233, LOC130066234, LOC130066235, LOC130066236, LOC130066237, LOC130066238, LOC130066239, LOC130066240, LOC130066241, LOC130066242, LOC130066243, LOC130066244, LOC130066245, LOC130066246, LOC129391187, LOC129391188, LOC129391189, LOC129391190, LOC129391191, LOC129391192, LOC129391193, LOC129391194, LOC129391195, LOC129391196, LOC129391197, LOC129391198, LOC129391199, LOC129391200, LOC129391201, LOC129391202, LOC129391203, LOC129391204, LOC129391205, LOC129391206, LOC129391207, LOC129391208, LOC129391209, LOC129391210, LOC129391211, LOC129391212, LOC129391213, LOC129456123, LOC129456124, LOC130065248, LOC130065249, LOC130065250, LOC130065251, LOC130065252, LOC130065253, LOC130065254, LOC130065255, LOC130065256, LOC130065257, LOC130065258, LOC130065259, LOC130065260, LOC130065261, LOC130065262, LOC130065263, LOC130065264, LOC130065265, LOC130065266, LOC130065267, LOC130065268, LOC130065269, LOC130065270, LOC130065271, LOC130065272, LOC130065273, LOC130065274, LOC130065275, LOC130065276, LOC130065277, LOC130065278, LOC130065279, LOC130065280, LOC130065281, LOC130065282, LOC130065283, LOC130065284, LOC130065285, LOC130065286, LOC130065287, LOC130065288, LOC130065289, LOC130065290, LOC130065291, LOC130065292, LOC130065293, LOC130065294, LOC130065295, LOC130065296, LOC130065297, LOC130065298, LOC130065299, LOC130065300, LOC130065301, LOC130065302, LOC130065303, LOC130065304, LOC130065305, LOC130065306, LOC130065307, LOC130065308, LOC130065309, LOC130065310, LOC130065311, LOC130065312, LOC130065313, LOC130065314, LOC130065315, LOC130065316, LOC130065317, LOC130065318, LOC130065319, LOC130065320, LOC130065321, LOC130065322, LOC130065323, LOC130065324, LOC130065325, LOC130065326, LOC130065327, LOC130065328, LOC130065329, LOC130065330, LOC130065331, LOC130065332, LOC130065333, LOC130065334, LOC130065335, LOC130065336, LOC130065337, LOC130065338, LOC130065339, LOC130065340, LOC130065341, LOC130065342, LOC130065343, LOC130065344, LOC130065345, LOC130065346, LOC130065347, LOC130065348, LOC130065349, LOC130065350, LOC130065351, LOC130065352, LOC130065353, LOC130065354, LOC130065355, LOC130065356, LOC130065357, LOC130065358, LOC130065359, LOC130065360, LOC130065361, LOC130065362, LOC130065363, LOC130065364, LOC130065365, LOC130065366, LOC130065367, LOC130065368, LOC130065369, LOC130065370, LOC130065371, LOC130065372, LOC130065373, LOC130065374, LOC130065375, LOC130065376, LOC130065377, LOC130065378, LOC130065379, LOC130065380, LOC130065381, LOC130065382, LOC130065383, LOC130065384, LOC130065385, LOC130065386, LOC130065387, LOC130065388, LOC130065389, LOC130065390, LOC130065391, LOC130065392, LOC130065393, LOC130065394, LOC130065395, LOC130065396, LOC130065397, LOC130065398, LOC130065399, LOC130065400, LOC130065401, LOC130065402, LOC130065403, LOC130065404, LOC130065405, LOC130065406, LOC130065407, LOC130065408, LOC130065409, LOC130065410, LOC130065411, LOC130065412, LOC130065413, LOC130065414, LOC130065415, LOC130065416, LOC130065417, LOC130065418, LOC130065419, LOC130065420, LOC130065421, LOC130065422, LOC130065423, LOC130065424, LOC130065425, LOC130065426, LOC130065427, LOC130065428, LOC130065429, LOC130065430, LOC130065431, LOC130065432, LOC130065433, LOC130065434, LOC130065435, LOC130065436, LOC130065437, LOC130065438, LOC130065439, LOC130065440, LOC130065441, LOC130065442, LOC130065443, LOC130065444, LOC130065445, LOC130065446, LOC130065447, LOC130065448, LOC130065449, LOC130065450, LOC130065451, LOC130065452, LOC130065453, LOC130065454, LOC130065455, LOC130065456, LOC130065457, LOC130065458, LOC130065459, LOC130065460, LOC130065461, LOC130065462, LOC130065463, LOC130065464, LOC130065465, LOC130065466, LOC130065467, LOC130065468, LOC130065469, LOC130065470, LOC130065471, LOC130065472, LOC130065473, LOC130065474, LOC130065475, LOC130065476, LOC130065477, LOC130065478, LOC130065479, LOC130065480, LOC130065481, LOC130065482, LOC130065483, LOC130065484, LOC130065485, LOC130065486, LOC130065487, LOC130065488, LOC130065489, LOC130065490, LOC130065491, LOC130065492, LOC130065493, LOC130065494, LOC130065495, LOC130065496, LOC130065497, LOC130065498, LOC130065499, LOC130065500, LOC130065501, LOC130065502, LOC130065503, LOC130065504, LOC130065505, LOC130065506, LOC130065507, LOC130065508, LOC130065509, LOC130065510, LOC130065511, LOC130065512, LOC130065513, LOC130065514, LOC130065515, LOC130065516, LOC130065517, LOC130065518, LOC130065519, LOC130065520, LOC130065521, LOC130065522, LOC130065523, LOC130065524, LOC130065525, LOC130065526, LOC130065527, LOC130065528, LOC130065529, LOC130065530, LOC130065531, LOC130065532, LOC130065533, LOC130065534, LOC130065535, LOC130065536, LOC130065537, LOC130065538, LOC130065539, LOC130065540, LOC130065541, LOC130065542, LOC130065543, LOC130065544, LOC130065545, LOC130065546, LOC130065547, LOC130065548, LOC130065549, LOC130065550, LOC130065551, LOC130065552, LOC130065553, LOC130065554, LOC130065555, LOC130065556, LOC130065557, LOC130065558, LOC130065559, LOC130065560, LOC130065561, LOC130065562, LOC130065563, LOC130065564, LOC130065565, LOC130065566, LOC130065567, LOC130065568, LOC130065569, LOC130065570, LOC130065571, LOC130065572, LOC130065573, LOC130065574, LOC130065575, LOC130065576, LOC130065577, LOC130065578, LOC130065579, LOC130065580, LOC130065581, LOC130065582, LOC130065583, LOC130065584, LOC130065585, LOC130065586, LOC130065587, LOC130065588, LOC130065589, LOC130065590, LOC130065591, LOC130065592, LOC130065593, LOC130065594, LOC130065595, LOC130065596, LOC130065597, LOC130065598, LOC130065599, LOC130065600, LOC130065601, LOC130065602, LOC130065603, LOC130065604, LOC130065605, LOC130065606, LOC130065607, LOC130065608, LOC130065609, LOC130065610, LOC130065611, LOC130065612, LOC130065613, LOC130065614, LOC130065615, LOC130065616, LOC130065617, LOC130065618, LOC130065619, LOC130065620, LOC130065621, LOC130065622, LOC130065623, LOC130065624, LOC130065625, LOC130065626, LOC130065627, LOC130065628, LOC130065629, LOC130065630, LOC130065631, LOC130065632, LOC130065633, LOC130065634, LOC130065635, LOC130065636, LOC130065637, LOC130065638, LOC130065639, LOC130065640, LOC130065641, LOC130065642, LOC130065643, LOC130065644, LOC130065645, LOC130065646, LOC130065647, LOC130065648, LOC130065649, LOC130065650, LOC130065651, LOC130065652, LOC130065653, LOC130065654, LOC130065655, LOC130065656, LOC130065657, LOC130065658, LOC130065659, LOC130065660, LOC130065661, LOC130065662, LOC130065663, LOC130065664, LOC130065665, LOC130065666, LOC130065667, LOC130065668, LOC130065669, LOC130065670, LOC130065671, LOC130065672, LOC130065673, LOC130065674, LOC130065675, LOC130065676, LOC130065677, LOC130065678, LOC130065679, LOC130065680, LOC130065681, LOC130065682, LOC130065683, LOC130065684, LOC130065685, LOC130065686, LOC130065687, LOC130065688, LOC130065689, LOC130065690, LOC130065691, LOC130065692, LOC130065693, LOC130065694, LOC130065695, LOC130065696, LOC130065697, LOC130065698, LOC130065699, LOC130065700, LOC130065701, LOC130065702, LOC130065703, LOC130065704, LOC130065705, LOC130065706, LOC130065707, LOC130065708, LOC130065709, LOC130065710, LOC130065711, LOC130065712, LOC130065713, LOC130065714, LOC130065715, LOC130065716, LOC130065717, LOC130065718, LOC130065719, LOC130065720, LOC130065721, LOC130065722, LOC130065723, LOC130065724, LOC130065725, LOC130065726, LOC130065727, LOC130065728, LOC130065729, LOC130065730, LOC130065731, LOC130065732, LOC130065733, LOC130065734, LINC01721, LINC01722, LINC01723, LINC01726, LINC01727, LINC01728, LINC01729, LINC01730, LINC01733, LINC01734, LINC01742, LINC01746, LINC01747, LINC01749, LINC01751, LINC01752, LINC01754, LINC02597, LINC02871, LINC02910, LINC02970, LINC03083, LINC03086, LKAAEAR1, LNCNEF, LOC100128310, LOC100128988, LOC100130587, LOC100131496, LOC100134868, LOC100287792, LOC101926889, LOC101926935, LOC101927098, LOC101927159, LOC101927377, LOC101927932, LOC101928048, LOC101929413, LOC101929698, LOC102606466, LOC102723636, LOC102724545, LOC105369209, LOC105372493, LOC105372524, LOC105372576, LOC105372582, LOC105372631, LOC105372633, LOC105372653, LOC105372669, LOC105372672, LOC105372695, LOC105372698, LOC105372703, LOC105372710, LOC105379477, LOC106799846, LOC106992256, LOC107080552, LOC107303343, LOC107457602, LOC107985388, LOC107985433, LOC108167311, LOC108167312, LOC108178991, LOC108178992, LOC108228200, LOC108228202, LOC108254667, LOC108281116, LOC108353820, LOC109363676, LOC109461473, LOC109461476, LOC109504727, LOC109621227, LOC110120877, LOC110120914, LOC110120921, LOC110120949, LOC110121317, LOC110121321, LOC110121332, LOC110121338, LOC110121370, LOC110121454, LOC110121469, LOC110121477, LOC110121484, LOC110121494, LOC110121497, LOC110594337, LOC111240478, LOC111240479, LOC111365159, LOC111365169, LOC111365189, LOC111365218, LOC111413042, LOC111465001, LOC111562371, LOC112268269, LOC112268270, LOC112268271, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694691, LOC112694692, LOC112694693, LOC112694694, LOC112694695, LOC112694696, LOC112694697, LOC112694698, LOC112694699, LOC112694700, LOC112694701, LOC112694702, LOC112694703, LOC112694704, LOC112694705, LOC112694706, LOC112694707, LOC112694708, LOC112694709, LOC112694710, LOC112694711, LOC112694712, LOC112694713, LOC112694714, LOC112694715, LOC112694716, LOC112694717, LOC112694718, LOC112694720, LOC112694721, LOC112694722, LOC112694723, LOC112694724, LOC112694725, LOC112694726, LOC112694727, LOC112694728, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC113960609, LOC113960610, LOC113960611, LOC114004352, LOC114004353, LOC114004355, LOC114004356, LOC114004357, LOC114803474, LOC114827862, LOC114827864, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC116286204, LOC116286205, LOC116286206, LOC116286207, LOC116286208, LOC116286209, LOC119746555, LOC120285836, LOC120285842, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121627896, LOC121627897, LOC121627898, LOC121627899, LOC121627900, LOC121627901, LOC121627902, LOC121627903, LOC121627904, LOC121627905, LOC121627906, LOC121627907, LOC121627908, LOC121627909, LOC121627910, LOC121627911, LOC121627912, LOC121627913, LOC121627914, LOC121627915, LOC121627916, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC121853000, LOC121853001, LOC121853002, LOC121853003, LOC121853004, LOC121853005, LOC121853006, LOC121853007, LOC121853008, LOC121853010, LOC121853011, LOC121853012, LOC121853013, LOC121853014, LOC121853015, LOC121853016, LOC121853017, LOC121853018, LOC121853019, LOC121853020, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC125384590, LOC125384592, LOC125384593, LOC125384594, LOC125387241, LOC125387242, LOC125387243, LOC125387244, LOC125387245, LOC125387246, LOC125387247, LOC125387248, LOC125387249, LOC125387253, LOC125387254, LOC125387257, LOC125387258, LOC125387260, LOC125387261, LOC125387262, LOC125387263, LOC125387264, LOC125387265, LOC125387267, LOC125387268, LOC125387269, LOC125387271, LOC125387272, LOC125387273, LOC125387274, LOC125387275, LOC125387276, LOC125387277, LOC125387278, LOC125387279, LOC125387280, LOC125387281, LOC125387282, LOC125387283, LOC125387284, LOC125387285, LOC125387286, LOC125387287, LOC125387288, LOC125387289, LOC125387290, LOC125387291, LOC125387293, LOC125387294, LOC125387295, LOC125387296, LOC125387297, LOC125387298, LOC125387299, LOC125387300, LOC125387301, LOC125387302, LOC125387303, LOC125387304, LOC125387305, LOC125387306, LOC125387307, LOC125387308, LOC125387309, LOC125387310, LOC125387311, LOC125387312, LOC125387313, LOC125387316, LOC125387317, LOC125387318, LOC125387319, LOC125387320, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC126862988, LOC126862989, LOC126862990, LOC126862991, LOC126862992, LOC126862993, LOC126862994, LOC126862995, LOC126862996, LOC126862997, LOC126862998, LOC126862999, LOC126863000, LOC126863001, LOC126863002, LOC126863003, LOC126863004, LOC126863005, LOC126863006, LOC126863007, LOC126863008, LOC126863009, LOC126863010, LOC126863011, LOC126863012, LOC126863013, LOC126863014, LOC126863015, LOC126863016, LOC126863017, LOC126863018, LOC126863019, LOC126863020, LOC126863021, LOC126863022, LOC126863023, LOC126863024, LOC126863025, LOC126863026, LOC126863027, LOC126863028, LOC126863029, LOC126863030, LOC126863031, LOC126863032, LOC126863033, LOC126863034, LOC126863035, LOC126863036, LOC126863037, LOC126863038, LOC126863039, LOC126863040, LOC126863041, LOC126863042, LOC126863043, LOC126863044, LOC126863045, LOC126863046, LOC126863047, LOC126863048, LOC126863049, LOC126863050, LOC126863051, LOC126863052, LOC126863053, LOC126863054, LOC126863055, LOC126863056, LOC126863057, LOC126863058, LOC126863059, LOC126863060, LOC126863061, LOC126863062, LOC126863063, LOC126863064, LOC126863065, LOC126863066, LOC126863067, LOC126863068, LOC126863069, LOC126863070, LOC126863071, LOC126863072, LOC126863073, LOC126863074, LOC126863075, LOC126863076, LOC126863077, LOC126863078, LOC126863079, LOC126863080, LOC126863081, LOC126863082, LOC126863083, LOC126863084, LOC126863085, LOC126863086, LOC126863087, LOC126863088, LOC126863089, LOC126863090, LOC126863091, LOC126863092, LOC127893450, LOC128706665, LOC128706666, LOC128772425, LOC128772426, LOC129391147, LOC129391148, LOC129391149, LOC129391150, LOC129391151, LOC129391152, LOC129391153, LOC129391154, LOC129391155, LOC129391156, LOC129391157, LOC129391158, LOC129391159, LOC129391160, LOC129391161, LOC129391162, LOC129391163, LOC129391164, LOC129391165, LOC129391166, LOC129391167, LOC129391168, LOC129391169, LOC129391170, LOC129391171, LOC129391172, LOC129391173, LOC129391174, LOC129391175, LOC129391176, LOC129391177, LOC129391178, LOC129391179, LOC129391180, LOC129391181, LOC129391182, LOC129391183, LOC129391184, LOC129391185, LOC129391186, AAR2, ABALON, ABHD12, ABHD16B, ACOT8, ACSS1, ACSS2, ACTL10, ACTR5, ADA, ADAM33, ADIG, ADISSP, ADNP, ADNP-AS1, ADRA1D, ADRM1, AHCY, ANGPT4, ANKEF1, ANKRD60, AP5S1, APCDD1L, APCDD1L-DT, APMAP, ARFGAP1, ARFGEF2, ARFRP1, ARHGAP40, ASIP, ASXL1, ATP5F1E, ATP9A, ATRN, AURKA, AVP, B4GALT5, BANF2, BCAS1, BCAS4, BCL2L1, BCL2L1-AS1, BFSP1, BHLHE23, BIRC7, BLCAP, BMP2, BMP7, BMP7-AS1, BPI, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, BTBD3, BTBD3-AS1, C20orf141, C20orf144, C20orf173, C20orf181, C20orf202, C20orf203, C20orf204, C20orf96, CABLES2, CASC20, CASS4, CBFA2T2, CBLN4, CCM2L, CCN5, CD40, CD93, CDC25B, CDH22, CDH26, CDH4, CDK5RAP1, CDS2, CEBPB, CEBPB-AS1, CENPB, CEP250, CEP250-AS1, CFAP61, CFAP61-AS1, CHD6, CHGB, CHMP4B, CHRNA4, CIMIP1, CNBD2, COL20A1, COL9A3, COMMD7, COX4I2, CPNE1, CPXM1, CRLS1, CRMA, CRNKL1, CSE1L, CSE1L-DT, CSNK2A1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTF1, CSTL1, CTCFL, CTNNBL1, CTSA, CTSZ, CYP24A1, DBNDD2, DDRGK1, DDX27, DEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB123, DEFB124, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DHX35, DIDO1, DLGAP4, DLGAP4-AS1, DNAAF9, DNAJC5, DNMT3B, DNTTIP1, DOK5, DPM1, DSN1, DSTN, DTD1, DTD1-AS1, DUSP15, DYNLRB1, DZANK1, E2F1, EBF4, EDEM2, EDN3, EEF1A2, EFCAB8, EIF2S2, EIF6, ELMO2, EMILIN3, ENTPD6, EPB41L1, EPB41L1-AS1, EPPIN, EPPIN-WFDC6, ERGIC3, ESF1, EYA2, EYA2-AS1, FAM110A, FAM182A, FAM182B, FAM209A, FAM209B, FAM210B, FAM217B, FAM242A, FAM242B, FAM83C, FAM83C-AS1, FAM83D, FASTKD5, FERMT1, FITM2, FKBP1A, FKBP1A-SDCBP2, FLJ16779, FLRT3, FNDC11, FOXA2, FOXS1, GATA5, GCNT7, GDAP1L1, GDF5, GDF5-AS1, GFRA4, GGT7, GGTLC1, GHRH, GID8, GINS1, GMEB2, GNAS, GNAS-AS1, GNRH2, GPCPD1, GSS, GTSF1L, GZF1, HAO1, HAR1A, HAR1B, HCK, HELZ2, HM13, HM13-AS1, HNF4A, HNF4A-AS1, HRH3, HSPA12B, ID1, IDH3B, IDH3B-DT, IFT52, INSM1, ISM1, ISM1-AS1, ITCH, ITPA, JAG1, JPH2, KAT14, KCNB1, KCNG1, KCNK15, KCNK15-AS1, KCNQ2, KCNQ2-AS1, KCNS1, KIAA1755, KIF16B, KIF3B, KIZ, KIZ-AS1, L3MBTL1, LAMA5, LAMA5-AS1, LAMP5, LAMP5-AS1, LBP, LCDR, LIME1, LINC00028, LINC00029, LINC00237, LINC00261, LINC00489, LINC00494, LINC00652, LINC00654, LINC00656, LINC00658, LINC00659, LINC00687, LINC00851, LINC01056, LINC01260, LINC01270, LINC01271, LINC01273, LINC01275, LINC01370, LINC01427, LINC01428, LINC01429, LINC01430, LINC01431, LINC01432, LINC01433, LINC01440, LINC01441, LINC01522, LINC01523, LINC01524, LINC01597, LINC01620, LINC01706, LINC01711, LINC01713, LINC01716, LINC01718, LOC130066247, LOC130066248, LOC130066249, LOC130066250, LOC130066251, LOC130066252, LOC130066253, LOC130066254, LOC130066255, LOC130066256, LOC130066257, LOC130066258, LOC130066259, LOC130066260, LOC130066261, LOC130066262, LOC130066263, LOC130066264, LOC130066265, LOC130066266, LOC130066267, LOC130066268, LOC130066269, LOC130066270, LOC130066271, LOC130066272, LOC130066273, LOC130066274, LOC130066275, LOC130066276, LOC130066277, LOC130066278, LOC130066279, LOC130066280, LOC130066281, LOC130066282, LOC130066283, LOC130066284, LOC130066285, LOC130066286, LOC130066287, LOC130066288, LOC130066289, LOC130066290, LOC130066291, LOC130066292, LOC130066293, LOC130066294, LOC130066295, LOC130066296, LOC130066297, LOC130066298, LOC130066299, LOC130066300, LOC130066301, LOC130066302, LOC130066303, LOC130066304, LOC130066305, LOC130066306, LOC130066307, LOC130066308, LOC130066309, LOC130066310, LOC130066311, LOC130066312, LOC130066313, LOC130066314, LOC130066315, LOC130066316, LOC130066317, LOC130066318, LOC130066319, LOC130066320, LOC130066321, LOC130066322, LOC130066323, LOC130066324, LOC130066325, LOC130066326, LOC130066327, LOC130066328, LOC130066329, LOC130066330, LOC130066331, LOC130066332, LOC130066333, LOC130066334, LOC130066335, LOC130066336, LOC130066337, LOC130066338, LOC130066339, LOC130066340, LOC130066341, LOC130066342, LOC130066343, LOC130066344, LOC130066345, LOC130066346, LOC130066347, LOC130066348, LOC130066349, LOC130066350, LOC130066351, LOC130066352, LOC130066353, LOC130066354, LOC130066355, LOC130066356, LOC130066357, LOC130066358, LOC130066359, LOC130066360, LOC130066361, LOC130066362, LOC130066363, LOC130066364, LOC130066365, LOC130066366, LOC130066367, LOC130066368, LOC130066369, LOC130066370, LOC130066371, LOC130066372, LOC130066373, LOC130066374, LOC130066375, LOC130066376, LOC130066377, LOC130066378, LOC130066379, LOC130066380, LOC130066381, LOC130066382, LOC130066383, LOC130066384, LOC130066385, LOC130066386, LOC130066387, LOC130066388, LOC130066389, LOC130066390, LOC130066391, LOC130066392, LOC130066393, LOC130066394, LOC130066395, LOC130066396, LOC130066397, LOC130066398, LOC130066399, LOC130066400, LOC130066401, LOC130066402, LOC130066403, LOC130066404, LOC130066405, LOC130066406, LOC130066407, LOC130066408, LOC130066409, LOC130066410, LOC130066411, LOC130066412, LOC130066413, LOC130066414, LOC130066415, LOC130066416, LOC130066417, LOC130066418, LOC130066419, LOC130066420, LOC130066421, LOC130066422, LOC130066423, LOC130066424, LOC130066425, LOC130066426, LOC130066427, LOC130066428, LOC132090561, LOC132090562, LOC132090563, LOC132090564, LOC132090565, LOC132090566, LOC132090567, LOC132090568, LOC132090569, LOC132090570, LOC132090571, LOC132090572, LOC132090573, LOC132090574, LOC132090575, LOC132090576, LOC132090577, LOC132090578, LOC132090579, LOC132090580, LOC132090581, LOC132090582, LOC132090583, LOC132090584, LOC132090585, LOC132090586, LOC132090587, LOC132090588, LOC132090589, LOC132090590, LOC132090591, LOC132090592, LOC132090593, LOC132090594, LOC132090595, LOC132090596, LOC132090597, LOC132090598, LOC132090599, LOC132090600, LOC132090601, LOC132090602, LOC132090603, LOC132090604, LOC132090605, LOC132090606, LOC132090910, LOC132090911, LOC132090912, LOC132090913, LOC132090914, LOC132090915, LOC149684, LOC284788, LOC284798, LOC339593, LOC613266, LOC643406, LOC729296, LPIN3, LRRN4, LSM14B, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAFB, MANBAL, MAP1LC3A, MAPRE1, MATN4, MAVS, MC3R, MCM8, MCM8-AS1, MCTS2, MGME1, MHENCR, MIR1-1, MIR1-1HG, MIR103A2, MIR103B2, MIR12122, MIR124-3, MIR1257, MIR1289-1, MIR1292, MIR1302-5, MIR133A2, MIR1825, MIR1914, MIR296, MIR298, MIR3192, MIR3193, MIR3194, MIR3195, MIR3196, MIR3616, MIR3617, MIR3646, MIR4325, MIR4326, MIR4533, MIR4755, MIR4756, MIR4758, MIR499A, MIR499B, MIR548AG2, MIR548O2, MIR644A, MIR645, MIR646, MIR646HG, MIR647, MIR663A, MIR663AHG, MIR6812, MIR6813, MIR6869, MIR6870, MIR6871, MIR8062, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MIR941-5, MKKS, MMP24, MMP24-AS1-EDEM2, MMP24OS, MMP9, MOCS3, MRGBP, MROH8, MRPS26, MTCL2, MTG2, MTRNR2L3, MYBL2, MYH7B, MYL9, MYLK2, MYT1, NAA20, NANP, NAPB, NCOA3, NCOA5, NCOA6, NDRG3, NDUFAF5, NECAB3, NELFCD, NEURL2, NFATC2, NFS1, NINL, NKAIN4, NKILA, NKX2-2, NKX2-4, NNAT, NOL4L, NOL4L-DT, NOP56, NORAD, NPBWR2, NPEPL1, NRSN2, NRSN2-AS1, NSFL1C, NTSR1, NXT1, OCSTAMP, OGFR, OGFR-AS1, OPRL1, OSBPL2, OSER1, OSER1-DT, OTOR, OVOL2, OXT, PABPC1L, PAK5, PANK2, PARAL1, PARD6B, PAX1, PCED1A, PCIF1, PCK1, PCMTD2, PCNA, PCNA-AS1, PCSK2, PDRG1, PDYN, PDYN-AS1, PEDS1, PEDS1-UBE2V1, PELATON, PET117, PFDN4, PHACTR3, PHACTR3-AS1, PHF20, PI3, PIGT, PIGU, PKIG, PLAGL2, PLCB1, PLCB1-IT1, PLCB4, PLCG1, PLCG1-AS1, PLTP, PMEPA1, POFUT1, POLR3F, PPDPF, PPP1R16B, PPP1R3D, PRELID3B, PREX1, PRND, PRNP, PRNT, PROCR, PROKR2, PRPF6, PSMA7, PSMF1, PTGIS, PTK6, PTPN1, PTPRA, PTPRT, PTPRT-AS1, PTPRT-DT, PXMP4, PYGB, R3HDML, R3HDML-AS1, RAB22A, RAB5IF, RAD21L1, RAE1, RALGAPA2, RALGAPB, RALY, RALY-AS1, RASSF2, RBBP8NL, RBBP9, RBCK1, RBL1, RBM12, RBM38, RBM38-AS1, RBM39, RBPJL, REM1, RGS19, RIMS4, RIN2, RIPOR3, RIPOR3-AS1, RNF114, RNF24, RNU105B, ROMO1, RPN2, RPRD1B, RPS21, RPS21-DT, RRBP1, RSPO4, RTEL1, RTEL1-TNFRSF6B, RTF2, SALL4, SAMD10, SAMHD1, SCAND1, SCP2D1, SCP2D1-AS1, SCRT2, SDC4, SDCBP2, SDCBP2-AS1, SEC23B, SEL1L2, SEMG1, SEMG2, SERINC3, SGK2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLA2, SLC12A5, SLC12A5-AS1, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC24A3-AS1, SLC2A10, SLC2A4RG, SLC32A1, SLC35C2, SLC4A11, SLC52A3, SLC9A8, SLCO4A1, SLCO4A1-AS1, SLCO4A1-AS2, SLMO2-ATP5E, SLPI, SLX4IP, SMIM26, SMOX, SNAI1, SNAP25, SNAP25-AS1, SNHG11, SNHG17, SNORA117, SNORA51, SNORA60, SNORA71A, SNORA71B, SNORA71C, SNORA71D, SNORA71E, SNORD110, SNORD119, SNORD12, SNORD12B, SNORD12C, SNORD154, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNTA1, SNX21, SNX5, SOX12, SOX18, SPAG4, SPATA2, SPATA25, SPEF1, SPINT3, SPINT4, SPO11, SPTLC3, SRC, SRMS, SRSF6, SRXN1, SS18L1, SSTR4, STAU1, STK35, STK4, STK4-DT, STMN3, STX16, STX16-NPEPL1, SULF2, SUN5, SYCP2, SYNDIG1, SYS1, SYS1-DBNDD2, TAF4, TASP1, TBC1D20, TCEA2, TCF15, TCFL5, TFAP2C, TGIF2, TGIF2-RAB5IF, TGM2, TGM3, TGM6, THBD, TLDC2, TM9SF4, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TNFRSF6B, TNNC2, TOMM34, TOP1, TOX2, TP53INP2, TP53RK, TP53RK-DT, TP53TG5, TPD52L2, TPX2, TRERNA1, TRIB3, TRMT6, TRPC4AP, TSHZ2, TTI1, TTLL9, TTPAL, TUBB1, UBE2C, UBE2V1, UBOX5, UBOX5-AS1, UCKL1, UCKL1-AS1, UQCC1, VAPB, VPS16, VSTM2L, VSX1, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, XKR7, XRN2, YTHDF1, YWHAB, ZBP1, ZBTB46, ZBTB46-AS1, ZBTB46-AS2, ZCCHC3, ZFAS1, ZFP64, ZGPAT, ZHX3, ZMYND8, ZNF133, ZNF133-AS1, ZNF217, ZNF217-AS1, ZNF334, ZNF335, ZNF337, ZNF337-AS1, ZNF341, ZNF341-AS1, ZNF343, ZNF512B, ZNF831, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3
See casesPathogenic
(Oct 19, 2010)
no assertion criteria provided
2.
GRCh37:
Chr20:43416345-62908674
GRCh38:
Chr20:44787704-64277321
LOC125387319, LOC125387320, LOC126863037, LOC126863038, LOC126863039, LOC126863040, LOC126863041, LOC126863042, LOC126863043, LOC126863044, LOC126863045, LOC126863046, LOC126863047, LOC126863048, LOC126863049, LOC126863050, LOC126863051, LOC126863052, LOC126863053, LOC126863054, LOC126863055, LOC126863056, LOC126863057, LOC126863058, LOC126863059, LOC126863060, LOC126863061, LOC126863062, LOC126863063, LOC126863064, LOC126863065, LOC126863066, LOC126863067, LOC126863068, LOC126863069, LOC126863070, LOC126863071, LOC126863072, LOC126863073, LOC126863074, LOC126863075, LOC126863076, LOC126863077, LOC126863078, LOC126863079, LOC126863080, LOC126863081, LOC126863082, LOC126863083, LOC126863084, LOC126863085, LOC126863086, LOC126863087, LOC126863088, LOC126863089, LOC126863090, LOC126863091, LOC126863092, LOC127893450, LOC128772425, LOC128772426, LOC129391180, LOC129391181, LOC129391182, LOC129391183, LOC129391184, LOC129391185, LOC129391186, LOC129391187, LOC129391188, LOC129391189, LOC129391190, LOC129391191, LOC129391192, LOC129391193, LOC129391194, LOC129391195, LOC129391196, LOC129391197, LOC129391198, LOC129391199, LOC129391200, LOC129391201, LOC129391202, LOC129391203, LOC129391204, LOC129391205, LOC129391206, LOC129391207, LOC129391208, LOC129391209, LOC129391210, LOC129391211, LOC129391212, LOC129391213, LOC129456124, LOC130065944, LOC130065945, LOC130065946, LOC130065947, LOC130065948, LOC130065949, LOC130065950, LOC130065951, LOC130065952, LOC130065953, LOC130065954, LOC130065955, LOC130065956, LOC130065957, LOC130065958, LOC130065959, LOC130065960, LOC130065961, LOC130065962, LOC130065963, LOC130065964, LOC130065965, LOC130065966, LOC130065967, LOC130065968, LOC130065969, LOC130065970, LOC130065971, LOC130065972, LOC130065973, LOC130065974, LOC130065975, LOC130065976, LOC130065977, LOC130065978, LOC130065979, LOC130065980, LOC130065981, LOC130065982, LOC130065983, LOC130065984, LOC130065985, LOC130065986, LOC130065987, LOC130065988, LOC130065989, LOC130065990, LOC130065991, LOC130065992, LOC130065993, LOC130065994, LOC130065995, LOC130065996, LOC130065997, LOC130065998, LOC130065999, LOC130066000, LOC130066001, LOC130066002, LOC130066003, LOC130066004, LOC130066005, LOC130066006, LOC130066007, LOC130066008, LOC130066009, LOC130066010, LOC130066011, LOC130066012, LOC130066013, LOC130066014, LOC130066015, LOC130066016, LOC130066017, LOC130066018, LOC130066019, LOC130066020, LOC130066021, LOC130066022, LOC130066023, LOC130066024, LOC130066025, LOC130066026, LOC130066027, LOC130066028, LOC130066029, LOC130066030, LOC130066031, LOC130066032, LOC130066033, LOC130066034, LOC130066035, LOC130066036, LOC130066037, LOC130066038, LOC130066039, LOC130066040, LOC130066041, LOC130066042, LOC130066043, LOC130066044, LOC130066045, LOC130066046, LOC130066047, LOC130066048, LOC130066049, LOC130066050, LOC130066051, LOC130066052, LOC130066053, LOC130066054, LOC130066055, LOC130066056, LOC130066057, LOC130066058, LOC130066059, LOC130066060, LOC130066061, LOC130066062, LOC130066063, LOC130066064, LOC130066065, LOC130066066, LOC130066067, LOC130066068, LOC130066069, LOC130066070, LOC130066071, LOC130066072, LOC130066073, LOC130066074, LOC130066075, LOC130066076, LOC130066077, LOC130066078, LOC130066079, LOC130066080, LOC130066081, LOC130066082, LOC130066083, LOC130066084, LOC130066085, LOC130066086, LOC130066087, LOC130066088, LOC130066089, LOC130066090, LOC130066091, LOC130066092, LOC130066093, LOC130066094, LOC130066095, LOC130066096, LOC130066097, LOC130066098, LOC130066099, LOC130066100, LOC130066101, LOC130066102, LOC130066103, LOC130066104, LOC130066105, LOC130066106, LOC130066107, LOC130066108, LOC130066109, LOC130066110, LOC130066111, LOC130066112, LOC130066113, LOC130066114, LOC130066115, LOC130066116, LOC130066117, LOC130066118, LOC130066119, LOC130066120, LOC130066121, LOC130066122, LOC130066123, LOC130066124, LOC130066125, LOC130066126, LOC130066127, LOC130066128, LOC130066129, LOC130066130, LOC130066131, LOC130066132, LOC130066133, LOC130066134, LOC130066135, LOC130066136, LOC130066137, LOC130066138, LOC130066139, LOC130066140, LOC130066141, LOC130066142, LOC130066143, LOC130066144, LOC130066145, LOC130066146, LOC130066147, LOC130066148, LOC130066149, LOC130066150, LOC130066151, LOC130066152, LOC130066153, LOC130066154, LOC130066155, LOC130066156, LOC130066157, LOC130066158, LOC130066159, LOC130066160, LOC130066161, LOC130066162, LOC130066163, LOC130066164, LOC130066165, LOC130066166, LOC130066167, LOC130066168, LOC130066169, LOC130066170, LOC130066171, LOC130066172, LOC130066173, LOC130066174, LOC130066175, LOC130066176, LOC130066177, LOC130066178, LOC130066179, LOC130066180, LOC130066181, LOC130066182, LOC130066183, LOC130066184, LOC130066185, LOC130066186, LOC130066187, LOC130066188, LOC130066189, LOC130066190, LOC130066191, LOC130066192, LOC130066193, LOC130066194, LOC130066195, LOC130066196, LOC130066197, LOC130066198, LOC130066199, LOC130066200, LOC130066201, LOC130066202, LOC130066203, LOC130066204, LOC130066205, LOC130066206, LOC130066207, LOC130066208, LOC130066209, LOC130066210, LOC130066211, LOC130066212, LOC130066213, LOC130066214, LOC130066215, LOC130066216, LOC130066217, LOC130066218, LOC130066219, LOC130066220, LOC130066221, LOC130066222, LOC130066223, LOC130066224, LOC130066225, LOC130066226, LOC130066227, LOC130066228, LOC130066229, LOC130066230, LOC130066231, LOC130066232, LOC130066233, LOC130066234, LOC130066235, LOC130066236, LOC130066237, LOC130066238, LOC130066239, LOC130066240, LOC130066241, LOC130066242, LOC130066243, LOC130066244, LOC130066245, LOC130066246, LOC130066247, LOC130066248, LOC130066249, LOC130066250, LOC130066251, LOC130066252, LOC130066253, LOC130066254, LOC130066255, LOC130066256, LOC130066257, LOC130066258, LOC130066259, LOC130066260, LOC130066261, LOC130066262, LOC130066263, LOC130066264, LOC130066265, LOC130066266, LOC130066267, LOC130066268, LOC130066269, LOC130066270, LOC130066271, LOC130066272, LOC130066273, LOC130066274, LOC130066275, LOC130066276, LOC130066277, LOC130066278, LOC130066279, LOC130066280, LOC130066281, LOC130066282, LOC130066283, LOC130066284, LOC130066285, LOC130066286, LOC130066287, LOC130066288, LOC130066289, LOC130066290, LOC130066291, LOC130066292, LOC130066293, LOC130066294, LOC130066295, LOC130066296, LOC130066297, LOC130066298, LOC130066299, LOC130066300, LOC130066301, LOC130066302, LOC130066303, LOC130066304, LOC130066305, LOC130066306, LOC130066307, LOC130066308, LOC130066309, LOC130066310, LOC130066311, LOC130066312, LOC130066313, LOC130066314, LOC130066315, LOC130066316, LOC130066317, LOC130066318, LOC130066319, LOC130066320, LOC130066321, LOC130066322, LOC130066323, LOC130066324, LOC130066325, LOC130066326, LOC130066327, LOC130066328, LOC130066329, LOC130066330, LOC130066331, LOC130066332, LOC130066333, LOC130066334, LOC130066335, LOC130066336, LOC130066337, LOC130066338, LOC130066339, LOC130066340, LOC130066341, LOC130066342, LOC130066343, LOC130066344, LOC130066345, LOC130066346, LOC130066347, LOC130066348, LOC130066349, LOC130066350, LOC130066351, LOC130066352, LOC130066353, LOC130066354, LOC130066355, ABHD16B, ACOT8, ADNP, ADNP-AS1, ADRM1, ANKRD60, APCDD1L, APCDD1L-DT, ARFGAP1, ARFGEF2, ARFRP1, ATP5F1E, ATP9A, AURKA, B4GALT5, BCAS1, BCAS4, BHLHE23, BIRC7, BMP7, BMP7-AS1, C20orf181, C20orf204, CABLES2, CASS4, CBLN4, CD40, CDH22, CDH26, CDH4, CEBPB, CEBPB-AS1, CHRNA4, CIMIP1, COL20A1, COL9A3, CRMA, CSE1L, CSE1L-DT, CSTF1, CTCFL, CTSA, CTSZ, CYP24A1, DBNDD2, DDX27, DIDO1, DNAJC5, DNTTIP1, DOK5, DPM1, EDN3, EEF1A2, ELMO2, EPPIN, EPPIN-WFDC6, EYA2, EYA2-AS1, FAM209A, FAM209B, FAM210B, FAM217B, FLJ16779, FNDC11, GATA5, GCNT7, GID8, GMEB2, GNAS, GNAS-AS1, HAR1A, HAR1B, HELZ2, HRH3, KCNB1, KCNG1, KCNQ2, KCNQ2-AS1, KCNS1, LAMA5, LAMA5-AS1, LIME1, LINC00029, LINC00494, LINC00659, LINC01056, LINC01270, LINC01271, LINC01273, LINC01275, LINC01429, LINC01440, LINC01441, LINC01522, LINC01523, LINC01524, LINC01711, LINC01716, LINC01718, LINC01742, LINC01749, LINC01754, LINC02597, LINC02910, LINC02970, LKAAEAR1, LOC100128310, LOC100130587, LOC100131496, LOC101927377, LOC101927932, LOC101928048, LOC105369209, LOC105372631, LOC105372633, LOC105372653, LOC105372669, LOC105372672, LOC105372695, LOC105372698, LOC105372703, LOC105372710, LOC107985388, LOC108281116, LOC109461473, LOC109621227, LOC110121370, LOC110121454, LOC110121469, LOC110594337, LOC111365159, LOC111413042, LOC112268269, LOC112268270, LOC112694717, LOC112694718, LOC112694720, LOC112694721, LOC112694722, LOC112694723, LOC112694724, LOC112694725, LOC112694726, LOC112694727, LOC112694728, LOC113960610, LOC113960611, LOC114004352, LOC114004353, LOC114004356, LOC114004357, LOC114803474, LOC114827864, LOC116286206, LOC116286207, LOC116286208, LOC116286209, LOC120285836, LOC121627906, LOC121627907, LOC121627908, LOC121627909, LOC121627910, LOC121627911, LOC121627912, LOC121627913, LOC121627914, LOC121627915, LOC121627916, LOC121853008, LOC121853010, LOC121853011, LOC121853012, LOC121853013, LOC121853014, LOC121853015, LOC121853016, LOC121853017, LOC121853018, LOC121853019, LOC121853020, LOC125387277, LOC125387278, LOC125387279, LOC125387280, LOC125387281, LOC125387282, LOC125387283, LOC125387284, LOC125387285, LOC125387286, LOC125387287, LOC125387288, LOC125387289, LOC125387290, LOC125387291, LOC125387293, LOC125387294, LOC125387295, LOC125387296, LOC125387297, LOC125387298, LOC125387299, LOC125387300, LOC125387301, LOC125387302, LOC125387303, LOC125387304, LOC125387305, LOC125387306, LOC125387307, LOC125387308, LOC125387309, LOC125387310, LOC125387311, LOC125387312, LOC125387313, LOC125387316, LOC125387317, LOC125387318, LOC130066356, LOC130066357, LOC130066358, LOC130066359, LOC130066360, LOC130066361, LOC130066362, LOC130066363, LOC130066364, LOC130066365, LOC130066366, LOC130066367, LOC130066368, LOC130066369, LOC130066370, LOC130066371, LOC130066372, LOC130066373, LOC130066374, LOC130066375, LOC130066376, LOC130066377, LOC130066378, LOC130066379, LOC130066380, LOC130066381, LOC130066382, LOC130066383, LOC130066384, LOC130066385, LOC130066386, LOC130066387, LOC130066388, LOC130066389, LOC130066390, LOC130066391, LOC130066392, LOC130066393, LOC130066394, LOC130066395, LOC130066396, LOC130066397, LOC130066398, LOC130066399, LOC130066400, LOC130066401, LOC130066402, LOC130066403, LOC130066404, LOC130066405, LOC130066406, LOC130066407, LOC130066408, LOC130066409, LOC130066410, LOC130066411, LOC130066412, LOC130066413, LOC130066414, LOC130066415, LOC130066416, LOC130066417, LOC130066418, LOC130066419, LOC130066420, LOC130066421, LOC130066422, LOC130066423, LOC130066424, LOC130066425, LOC130066426, LOC130066427, LOC130066428, LOC132090577, LOC132090578, LOC132090579, LOC132090580, LOC132090581, LOC132090582, LOC132090583, LOC132090584, LOC132090585, LOC132090586, LOC132090587, LOC132090588, LOC132090589, LOC132090590, LOC132090591, LOC132090592, LOC132090593, LOC132090594, LOC132090595, LOC132090596, LOC132090597, LOC132090598, LOC132090599, LOC132090600, LOC132090601, LOC132090602, LOC132090603, LOC132090604, LOC132090605, LOC132090606, LOC132090911, LOC132090912, LOC132090913, LOC132090914, LOC132090915, LOC729296, LSM14B, MATN4, MC3R, MHENCR, MIR1-1, MIR1-1HG, MIR12122, MIR124-3, MIR1257, MIR1302-5, MIR133A2, MIR1914, MIR296, MIR298, MIR3194, MIR3195, MIR3196, MIR3616, MIR3617, MIR4325, MIR4326, MIR4533, MIR4756, MIR4758, MIR548AG2, MIR645, MIR646, MIR646HG, MIR647, MIR6812, MIR6813, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MIR941-5, MMP9, MOCS3, MRGBP, MTG2, MTRNR2L3, MYT1, NCOA3, NCOA5, NELFCD, NEURL2, NFATC2, NKAIN4, NKILA, NPBWR2, NPEPL1, NTSR1, OCSTAMP, OGFR, OGFR-AS1, OPRL1, OSBPL2, PABPC1L, PARD6B, PCIF1, PCK1, PCMTD2, PEDS1, PEDS1-UBE2V1, PELATON, PFDN4, PHACTR3, PHACTR3-AS1, PI3, PIGT, PLTP, PMEPA1, PPDPF, PPP1R3D, PRELID3B, PREX1, PRPF6, PSMA7, PTGIS, PTK6, PTPN1, RAB22A, RAE1, RBBP8NL, RBM38, RBM38-AS1, RBPJL, RGS19, RIMS4, RIPOR3, RIPOR3-AS1, RNF114, RPS21, RPS21-DT, RTEL1, RTEL1-TNFRSF6B, RTF2, SALL4, SAMD10, SDC4, SEMG1, SEMG2, SLC12A5, SLC12A5-AS1, SLC13A3, SLC17A9, SLC2A10, SLC2A4RG, SLC35C2, SLC9A8, SLCO4A1, SLCO4A1-AS1, SLCO4A1-AS2, SLMO2-ATP5E, SLPI, SNAI1, SNORA117, SNORD12, SNORD12B, SNORD12C, SNX21, SOX18, SPATA2, SPATA25, SPINT3, SPINT4, SPO11, SRMS, SS18L1, STAU1, STK4, STK4-DT, STMN3, STX16, STX16-NPEPL1, SULF2, SYCP2, SYS1, SYS1-DBNDD2, TAF4, TCEA2, TCFL5, TFAP2C, TNFRSF6B, TNNC2, TOMM34, TP53RK, TP53RK-DT, TP53TG5, TPD52L2, TRERNA1, TSHZ2, TUBB1, UBE2C, UBE2V1, UCKL1, UCKL1-AS1, VAPB, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, YTHDF1, YWHAB, ZBP1, ZBTB46, ZBTB46-AS1, ZBTB46-AS2, ZFAS1, ZFP64, ZGPAT, ZMYND8, ZNF217, ZNF217-AS1, ZNF334, ZNF335, ZNF512B, ZNF831, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr20:51852704-62915555
GRCh38:
Chr20:53236165-64284202
ABHD16B, ADRM1, ANKRD60, APCDD1L, APCDD1L-DT, ARFGAP1, ARFRP1, ATP5F1E, AURKA, BCAS1, BHLHE23, BIRC7, BMP7, BMP7-AS1, C20orf181, C20orf204, CABLES2, CASS4, CBLN4, CDH26, CDH4, CHRNA4, CIMIP1, COL20A1, COL9A3, CRMA, CSTF1, CTCFL, CTSZ, CYP24A1, DIDO1, DNAJC5, DOK5, EDN3, EEF1A2, FAM209A, FAM209B, FAM210B, FAM217B, FLJ16779, FNDC11, GATA5, GCNT7, GID8, GMEB2, GNAS, GNAS-AS1, HAR1A, HAR1B, HELZ2, HRH3, KCNQ2, KCNQ2-AS1, LAMA5, LAMA5-AS1, LIME1, LINC00029, LINC00659, LINC01056, LINC01440, LINC01441, LINC01711, LINC01716, LINC01718, LINC01742, LINC01749, LINC02910, LINC02970, LKAAEAR1, LOC100128310, LOC100130587, LOC101927932, LOC101928048, LOC105369209, LOC105372669, LOC105372672, LOC105372695, LOC105372698, LOC105372703, LOC105372710, LOC108281116, LOC109461473, LOC110121370, LOC110121469, LOC110594337, LOC111365159, LOC111413042, LOC112268269, LOC112268270, LOC112694722, LOC112694723, LOC112694724, LOC112694725, LOC112694726, LOC112694727, LOC112694728, LOC114004356, LOC114004357, LOC114803474, LOC114827864, LOC120285836, LOC121627912, LOC121627913, LOC121627914, LOC121627915, LOC121627916, LOC121853014, LOC121853015, LOC121853016, LOC121853017, LOC121853018, LOC121853019, LOC121853020, LOC125387305, LOC125387306, LOC125387307, LOC125387308, LOC125387309, LOC125387310, LOC125387311, LOC125387312, LOC125387313, LOC125387316, LOC125387317, LOC125387318, LOC125387319, LOC125387320, LOC126863057, LOC126863058, LOC126863059, LOC126863060, LOC126863061, LOC126863062, LOC126863063, LOC126863064, LOC126863065, LOC126863066, LOC126863067, LOC126863068, LOC126863069, LOC126863070, LOC126863071, LOC126863072, LOC126863073, LOC126863074, LOC126863075, LOC126863076, LOC126863077, LOC126863078, LOC126863079, LOC126863080, LOC126863081, LOC126863082, LOC126863083, LOC126863084, LOC126863085, LOC126863086, LOC126863087, LOC126863088, LOC126863089, LOC126863090, LOC126863091, LOC126863092, LOC128772425, LOC128772426, LOC129391193, LOC129391194, LOC129391195, LOC129391196, LOC129391197, LOC129391198, LOC129391199, LOC129391200, LOC129391201, LOC129391202, LOC129391203, LOC129391204, LOC129391205, LOC129391206, LOC129391207, LOC129391208, LOC129391209, LOC129391210, LOC129391211, LOC129391212, LOC129391213, LOC129456124, LOC130066184, LOC130066185, LOC130066186, LOC130066187, LOC130066188, LOC130066189, LOC130066190, LOC130066191, LOC130066192, LOC130066193, LOC130066194, LOC130066195, LOC130066196, LOC130066197, LOC130066198, LOC130066199, LOC130066200, LOC130066201, LOC130066202, LOC130066203, LOC130066204, LOC130066205, LOC130066206, LOC130066207, LOC130066208, LOC130066209, LOC130066210, LOC130066211, LOC130066212, LOC130066213, LOC130066214, LOC130066215, LOC130066216, LOC130066217, LOC130066218, LOC130066219, LOC130066220, LOC130066221, LOC130066222, LOC130066223, LOC130066224, LOC130066225, LOC130066226, LOC130066227, LOC130066228, LOC130066229, LOC130066230, LOC130066231, LOC130066232, LOC130066233, LOC130066234, LOC130066235, LOC130066236, LOC130066237, LOC130066238, LOC130066239, LOC130066240, LOC130066241, LOC130066242, LOC130066243, LOC130066244, LOC130066245, LOC130066246, LOC130066247, LOC130066248, LOC130066249, LOC130066250, LOC130066251, LOC130066252, LOC130066253, LOC130066254, LOC130066255, LOC130066256, LOC130066257, LOC130066258, LOC130066259, LOC130066260, LOC130066261, LOC130066262, LOC130066263, LOC130066264, LOC130066265, LOC130066266, LOC130066267, LOC130066268, LOC130066269, LOC130066270, LOC130066271, LOC130066272, LOC130066273, LOC130066274, LOC130066275, LOC130066276, LOC130066277, LOC130066278, LOC130066279, LOC130066280, LOC130066281, LOC130066282, LOC130066283, LOC130066284, LOC130066285, LOC130066286, LOC130066287, LOC130066288, LOC130066289, LOC130066290, LOC130066291, LOC130066292, LOC130066293, LOC130066294, LOC130066295, LOC130066296, LOC130066297, LOC130066298, LOC130066299, LOC130066300, LOC130066301, LOC130066302, LOC130066303, LOC130066304, LOC130066305, LOC130066306, LOC130066307, LOC130066308, LOC130066309, LOC130066310, LOC130066311, LOC130066312, LOC130066313, LOC130066314, LOC130066315, LOC130066316, LOC130066317, LOC130066318, LOC130066319, LOC130066320, LOC130066321, LOC130066322, LOC130066323, LOC130066324, LOC130066325, LOC130066326, LOC130066327, LOC130066328, LOC130066329, LOC130066330, LOC130066331, LOC130066332, LOC130066333, LOC130066334, LOC130066335, LOC130066336, LOC130066337, LOC130066338, LOC130066339, LOC130066340, LOC130066341, LOC130066342, LOC130066343, LOC130066344, LOC130066345, LOC130066346, LOC130066347, LOC130066348, LOC130066349, LOC130066350, LOC130066351, LOC130066352, LOC130066353, LOC130066354, LOC130066355, LOC130066356, LOC130066357, LOC130066358, LOC130066359, LOC130066360, LOC130066361, LOC130066362, LOC130066363, LOC130066364, LOC130066365, LOC130066366, LOC130066367, LOC130066368, LOC130066369, LOC130066370, LOC130066371, LOC130066372, LOC130066373, LOC130066374, LOC130066375, LOC130066376, LOC130066377, LOC130066378, LOC130066379, LOC130066380, LOC130066381, LOC130066382, LOC130066383, LOC130066384, LOC130066385, LOC130066386, LOC130066387, LOC130066388, LOC130066389, LOC130066390, LOC130066391, LOC130066392, LOC130066393, LOC130066394, LOC130066395, LOC130066396, LOC130066397, LOC130066398, LOC130066399, LOC130066400, LOC130066401, LOC130066402, LOC130066403, LOC130066404, LOC130066405, LOC130066406, LOC130066407, LOC130066408, LOC130066409, LOC130066410, LOC130066411, LOC130066412, LOC130066413, LOC130066414, LOC130066415, LOC130066416, LOC130066417, LOC130066418, LOC130066419, LOC130066420, LOC130066421, LOC130066422, LOC130066423, LOC130066424, LOC130066425, LOC130066426, LOC130066427, LOC130066428, LOC132090592, LOC132090593, LOC132090594, LOC132090595, LOC132090596, LOC132090597, LOC132090598, LOC132090599, LOC132090600, LOC132090601, LOC132090602, LOC132090603, LOC132090604, LOC132090605, LOC132090606, LOC132090911, LOC132090912, LOC132090913, LOC132090914, LOC132090915, LOC729296, LSM14B, MC3R, MHENCR, MIR1-1, MIR1-1HG, MIR124-3, MIR1257, MIR133A2, MIR1914, MIR296, MIR298, MIR3195, MIR3196, MIR4325, MIR4326, MIR4533, MIR4756, MIR4758, MIR548AG2, MIR646, MIR646HG, MIR647, MIR6813, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MIR941-5, MRGBP, MTG2, MTRNR2L3, MYT1, NELFCD, NKAIN4, NKILA, NPBWR2, NPEPL1, NTSR1, OGFR, OGFR-AS1, OPRL1, OSBPL2, PCK1, PCMTD2, PFDN4, PHACTR3, PHACTR3-AS1, PMEPA1, PPDPF, PPP1R3D, PRELID3B, PRPF6, PSMA7, PTK6, RAB22A, RAE1, RBBP8NL, RBM38, RBM38-AS1, RGS19, RPS21, RPS21-DT, RTEL1, RTEL1-TNFRSF6B, RTF2, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SLCO4A1-AS1, SLCO4A1-AS2, SLMO2-ATP5E, SNORA117, SOX18, SPO11, SRMS, SS18L1, STMN3, STX16, STX16-NPEPL1, SYCP2, TAF4, TCEA2, TCFL5, TFAP2C, TNFRSF6B, TPD52L2, TSHZ2, TUBB1, UCKL1, UCKL1-AS1, VAPB, YTHDF1, ZBP1, ZBTB46, ZBTB46-AS1, ZBTB46-AS2, ZGPAT, ZNF217, ZNF217-AS1, ZNF512B, ZNF831
See casesLikely pathogenic
(Sep 9, 2013)
no assertion criteria provided
4.
GRCh37:
Chr20:54773088-62908674
GRCh38:
Chr20:56198032-64277321
ABHD16B, ADRM1, ANKRD60, APCDD1L, APCDD1L-DT, ARFGAP1, ARFRP1, ATP5F1E, AURKA, BHLHE23, BIRC7, BMP7, BMP7-AS1, C20orf181, C20orf204, CABLES2, CASS4, CDH26, CDH4, CHRNA4, CIMIP1, COL20A1, COL9A3, CRMA, CSTF1, CTCFL, CTSZ, DIDO1, DNAJC5, EDN3, EEF1A2, FAM209A, FAM209B, FAM210B, FAM217B, FLJ16779, FNDC11, GATA5, GCNT7, GID8, GMEB2, GNAS, GNAS-AS1, HAR1A, HAR1B, HELZ2, HRH3, KCNQ2, KCNQ2-AS1, LAMA5, LAMA5-AS1, LIME1, LINC00029, LINC00659, LINC01056, LINC01711, LINC01716, LINC01718, LINC01742, LINC01749, LINC02910, LINC02970, LKAAEAR1, LOC100128310, LOC100130587, LOC101927932, LOC101928048, LOC105369209, LOC105372695, LOC105372698, LOC105372703, LOC105372710, LOC108281116, LOC109461473, LOC110121469, LOC110594337, LOC111365159, LOC112268269, LOC112268270, LOC112694724, LOC112694725, LOC112694726, LOC112694727, LOC112694728, LOC114004356, LOC114004357, LOC114803474, LOC114827864, LOC120285836, LOC121627912, LOC121627913, LOC121627914, LOC121627915, LOC121627916, LOC121853014, LOC121853015, LOC121853016, LOC121853017, LOC121853018, LOC121853019, LOC121853020, LOC125387308, LOC125387309, LOC125387310, LOC125387311, LOC125387312, LOC125387313, LOC125387316, LOC125387317, LOC125387318, LOC125387319, LOC125387320, LOC126863063, LOC126863064, LOC126863065, LOC126863066, LOC126863067, LOC126863068, LOC126863069, LOC126863070, LOC126863071, LOC126863072, LOC126863073, LOC126863074, LOC126863075, LOC126863076, LOC126863077, LOC126863078, LOC126863079, LOC126863080, LOC126863081, LOC126863082, LOC126863083, LOC126863084, LOC126863085, LOC126863086, LOC126863087, LOC126863088, LOC126863089, LOC126863090, LOC126863091, LOC126863092, LOC128772425, LOC128772426, LOC129391200, LOC129391201, LOC129391202, LOC129391203, LOC129391204, LOC129391205, LOC129391206, LOC129391207, LOC129391208, LOC129391209, LOC129391210, LOC129391211, LOC129391212, LOC129391213, LOC130066212, LOC130066213, LOC130066214, LOC130066215, LOC130066216, LOC130066217, LOC130066218, LOC130066219, LOC130066220, LOC130066221, LOC130066222, LOC130066223, LOC130066224, LOC130066225, LOC130066226, LOC130066227, LOC130066228, LOC130066229, LOC130066230, LOC130066231, LOC130066232, LOC130066233, LOC130066234, LOC130066235, LOC130066236, LOC130066237, LOC130066238, LOC130066239, LOC130066240, LOC130066241, LOC130066242, LOC130066243, LOC130066244, LOC130066245, LOC130066246, LOC130066247, LOC130066248, LOC130066249, LOC130066250, LOC130066251, LOC130066252, LOC130066253, LOC130066254, LOC130066255, LOC130066256, LOC130066257, LOC130066258, LOC130066259, LOC130066260, LOC130066261, LOC130066262, LOC130066263, LOC130066264, LOC130066265, LOC130066266, LOC130066267, LOC130066268, LOC130066269, LOC130066270, LOC130066271, LOC130066272, LOC130066273, LOC130066274, LOC130066275, LOC130066276, LOC130066277, LOC130066278, LOC130066279, LOC130066280, LOC130066281, LOC130066282, LOC130066283, LOC130066284, LOC130066285, LOC130066286, LOC130066287, LOC130066288, LOC130066289, LOC130066290, LOC130066291, LOC130066292, LOC130066293, LOC130066294, LOC130066295, LOC130066296, LOC130066297, LOC130066298, LOC130066299, LOC130066300, LOC130066301, LOC130066302, LOC130066303, LOC130066304, LOC130066305, LOC130066306, LOC130066307, LOC130066308, LOC130066309, LOC130066310, LOC130066311, LOC130066312, LOC130066313, LOC130066314, LOC130066315, LOC130066316, LOC130066317, LOC130066318, LOC130066319, LOC130066320, LOC130066321, LOC130066322, LOC130066323, LOC130066324, LOC130066325, LOC130066326, LOC130066327, LOC130066328, LOC130066329, LOC130066330, LOC130066331, LOC130066332, LOC130066333, LOC130066334, LOC130066335, LOC130066336, LOC130066337, LOC130066338, LOC130066339, LOC130066340, LOC130066341, LOC130066342, LOC130066343, LOC130066344, LOC130066345, LOC130066346, LOC130066347, LOC130066348, LOC130066349, LOC130066350, LOC130066351, LOC130066352, LOC130066353, LOC130066354, LOC130066355, LOC130066356, LOC130066357, LOC130066358, LOC130066359, LOC130066360, LOC130066361, LOC130066362, LOC130066363, LOC130066364, LOC130066365, LOC130066366, LOC130066367, LOC130066368, LOC130066369, LOC130066370, LOC130066371, LOC130066372, LOC130066373, LOC130066374, LOC130066375, LOC130066376, LOC130066377, LOC130066378, LOC130066379, LOC130066380, LOC130066381, LOC130066382, LOC130066383, LOC130066384, LOC130066385, LOC130066386, LOC130066387, LOC130066388, LOC130066389, LOC130066390, LOC130066391, LOC130066392, LOC130066393, LOC130066394, LOC130066395, LOC130066396, LOC130066397, LOC130066398, LOC130066399, LOC130066400, LOC130066401, LOC130066402, LOC130066403, LOC130066404, LOC130066405, LOC130066406, LOC130066407, LOC130066408, LOC130066409, LOC130066410, LOC130066411, LOC130066412, LOC130066413, LOC130066414, LOC130066415, LOC130066416, LOC130066417, LOC130066418, LOC130066419, LOC130066420, LOC130066421, LOC130066422, LOC130066423, LOC130066424, LOC130066425, LOC130066426, LOC130066427, LOC130066428, LOC132090592, LOC132090593, LOC132090594, LOC132090595, LOC132090596, LOC132090597, LOC132090598, LOC132090599, LOC132090600, LOC132090601, LOC132090602, LOC132090603, LOC132090604, LOC132090605, LOC132090606, LOC132090911, LOC132090912, LOC132090913, LOC132090914, LOC132090915, LOC729296, LSM14B, MC3R, MHENCR, MIR1-1, MIR1-1HG, MIR124-3, MIR1257, MIR133A2, MIR1914, MIR296, MIR298, MIR3195, MIR3196, MIR4325, MIR4326, MIR4533, MIR4758, MIR548AG2, MIR646, MIR646HG, MIR647, MIR6813, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MIR941-5, MRGBP, MTG2, MTRNR2L3, MYT1, NELFCD, NKAIN4, NKILA, NPBWR2, NPEPL1, NTSR1, OGFR, OGFR-AS1, OPRL1, OSBPL2, PCK1, PCMTD2, PHACTR3, PHACTR3-AS1, PMEPA1, PPDPF, PPP1R3D, PRELID3B, PRPF6, PSMA7, PTK6, RAB22A, RAE1, RBBP8NL, RBM38, RBM38-AS1, RGS19, RPS21, RPS21-DT, RTEL1, RTEL1-TNFRSF6B, RTF2, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SLCO4A1-AS1, SLCO4A1-AS2, SLMO2-ATP5E, SNORA117, SOX18, SPO11, SRMS, SS18L1, STMN3, STX16, STX16-NPEPL1, SYCP2, TAF4, TCEA2, TCFL5, TFAP2C, TNFRSF6B, TPD52L2, TUBB1, UCKL1, UCKL1-AS1, VAPB, YTHDF1, ZBP1, ZBTB46, ZBTB46-AS1, ZBTB46-AS2, ZGPAT, ZNF512B, ZNF831
See casesPathogenic
(Jan 3, 2012)
no assertion criteria provided
5.
GRCh37:
Chr20:55804471-62904442
GRCh38:
Chr20:57229415-64273089
LOC130066376, LOC130066377, LOC130066378, LOC130066379, LOC130066380, LOC130066381, LOC130066382, LOC130066383, LOC130066384, LOC130066385, LOC130066386, LOC130066387, LOC130066388, LOC130066389, LOC130066390, LOC130066391, LOC130066392, LOC130066393, LOC130066394, LOC130066395, LOC130066396, LOC130066397, LOC130066398, LOC130066399, LOC130066400, LOC130066401, LOC130066402, LOC130066403, LOC130066404, LOC130066405, LOC130066406, LOC130066407, LOC130066408, LOC130066409, LOC130066410, LOC130066411, LOC130066412, LOC130066413, LOC130066414, LOC130066415, LOC130066416, LOC130066417, LOC130066418, LOC130066419, LOC130066420, LOC130066421, LOC130066422, LOC130066423, LOC130066424, LOC130066425, LOC130066426, LOC130066427, LOC130066428, LOC132090592, LOC132090593, LOC132090594, LOC132090595, LOC132090596, LOC132090597, LOC132090598, LOC132090599, LOC132090600, LOC132090601, LOC132090602, LOC132090603, LOC132090604, LOC132090605, LOC132090606, LOC132090911, LOC132090912, LOC132090913, LOC132090914, LOC132090915, LOC729296, LSM14B, MHENCR, MIR1-1, MIR1-1HG, MIR124-3, MIR1257, MIR133A2, MIR1914, MIR296, MIR298, MIR3195, MIR3196, MIR4325, MIR4326, MIR4533, MIR4758, MIR548AG2, MIR646, MIR646HG, MIR647, MIR6813, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MIR941-5, MRGBP, MTG2, MTRNR2L3, MYT1, NELFCD, NKAIN4, NKILA, NPBWR2, NPEPL1, NTSR1, OGFR, OGFR-AS1, OPRL1, OSBPL2, PCK1, PCMTD2, PHACTR3, PHACTR3-AS1, PMEPA1, PPDPF, PPP1R3D, PRELID3B, PRPF6, PSMA7, PTK6, RAB22A, RAE1, RBBP8NL, RBM38, RBM38-AS1, RGS19, RPS21, RPS21-DT, RTEL1, RTEL1-TNFRSF6B, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SLCO4A1-AS1, SLCO4A1-AS2, SLMO2-ATP5E, SNORA117, SOX18, SPO11, SRMS, SS18L1, STMN3, STX16, STX16-NPEPL1, SYCP2, TAF4, TCEA2, TCFL5, TNFRSF6B, TPD52L2, TUBB1, UCKL1, UCKL1-AS1, VAPB, YTHDF1, ZBP1, ZBTB46, ZBTB46-AS1, ZBTB46-AS2, ZGPAT, ZNF512B, ZNF831, ABHD16B, ADRM1, ANKRD60, APCDD1L, APCDD1L-DT, ARFGAP1, ARFRP1, ATP5F1E, BHLHE23, BIRC7, BMP7, C20orf181, C20orf204, CABLES2, CDH26, CDH4, CHRNA4, CIMIP1, COL20A1, COL9A3, CRMA, CTCFL, CTSZ, DIDO1, DNAJC5, EDN3, EEF1A2, FAM217B, FLJ16779, FNDC11, GATA5, GID8, GMEB2, GNAS, GNAS-AS1, HAR1A, HAR1B, HELZ2, HRH3, KCNQ2, KCNQ2-AS1, LAMA5, LAMA5-AS1, LIME1, LINC00029, LINC00659, LINC01056, LINC01711, LINC01718, LINC01742, LINC01749, LINC02910, LINC02970, LKAAEAR1, LOC100128310, LOC100130587, LOC101927932, LOC101928048, LOC105369209, LOC105372695, LOC105372698, LOC105372703, LOC105372710, LOC108281116, LOC109461473, LOC110121469, LOC110594337, LOC111365159, LOC112268269, LOC112268270, LOC112694724, LOC112694725, LOC112694726, LOC112694727, LOC112694728, LOC114004356, LOC114004357, LOC114803474, LOC120285836, LOC121627912, LOC121627913, LOC121627914, LOC121627915, LOC121627916, LOC121853014, LOC121853015, LOC121853016, LOC121853017, LOC121853018, LOC121853019, LOC121853020, LOC125387311, LOC125387312, LOC125387313, LOC125387316, LOC125387317, LOC125387318, LOC125387319, LOC125387320, LOC126863067, LOC126863068, LOC126863069, LOC126863070, LOC126863071, LOC126863072, LOC126863073, LOC126863074, LOC126863075, LOC126863076, LOC126863077, LOC126863078, LOC126863079, LOC126863080, LOC126863081, LOC126863082, LOC126863083, LOC126863084, LOC126863085, LOC126863086, LOC126863087, LOC126863088, LOC126863089, LOC126863090, LOC126863091, LOC126863092, LOC128772425, LOC128772426, LOC129391201, LOC129391202, LOC129391203, LOC129391204, LOC129391205, LOC129391206, LOC129391207, LOC129391208, LOC129391209, LOC129391210, LOC129391211, LOC129391212, LOC129391213, LOC130066218, LOC130066219, LOC130066220, LOC130066221, LOC130066222, LOC130066223, LOC130066224, LOC130066225, LOC130066226, LOC130066227, LOC130066228, LOC130066229, LOC130066230, LOC130066231, LOC130066232, LOC130066233, LOC130066234, LOC130066235, LOC130066236, LOC130066237, LOC130066238, LOC130066239, LOC130066240, LOC130066241, LOC130066242, LOC130066243, LOC130066244, LOC130066245, LOC130066246, LOC130066247, LOC130066248, LOC130066249, LOC130066250, LOC130066251, LOC130066252, LOC130066253, LOC130066254, LOC130066255, LOC130066256, LOC130066257, LOC130066258, LOC130066259, LOC130066260, LOC130066261, LOC130066262, LOC130066263, LOC130066264, LOC130066265, LOC130066266, LOC130066267, LOC130066268, LOC130066269, LOC130066270, LOC130066271, LOC130066272, LOC130066273, LOC130066274, LOC130066275, LOC130066276, LOC130066277, LOC130066278, LOC130066279, LOC130066280, LOC130066281, LOC130066282, LOC130066283, LOC130066284, LOC130066285, LOC130066286, LOC130066287, LOC130066288, LOC130066289, LOC130066290, LOC130066291, LOC130066292, LOC130066293, LOC130066294, LOC130066295, LOC130066296, LOC130066297, LOC130066298, LOC130066299, LOC130066300, LOC130066301, LOC130066302, LOC130066303, LOC130066304, LOC130066305, LOC130066306, LOC130066307, LOC130066308, LOC130066309, LOC130066310, LOC130066311, LOC130066312, LOC130066313, LOC130066314, LOC130066315, LOC130066316, LOC130066317, LOC130066318, LOC130066319, LOC130066320, LOC130066321, LOC130066322, LOC130066323, LOC130066324, LOC130066325, LOC130066326, LOC130066327, LOC130066328, LOC130066329, LOC130066330, LOC130066331, LOC130066332, LOC130066333, LOC130066334, LOC130066335, LOC130066336, LOC130066337, LOC130066338, LOC130066339, LOC130066340, LOC130066341, LOC130066342, LOC130066343, LOC130066344, LOC130066345, LOC130066346, LOC130066347, LOC130066348, LOC130066349, LOC130066350, LOC130066351, LOC130066352, LOC130066353, LOC130066354, LOC130066355, LOC130066356, LOC130066357, LOC130066358, LOC130066359, LOC130066360, LOC130066361, LOC130066362, LOC130066363, LOC130066364, LOC130066365, LOC130066366, LOC130066367, LOC130066368, LOC130066369, LOC130066370, LOC130066371, LOC130066372, LOC130066373, LOC130066374, LOC130066375
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
6.
GRCh37:
Chr20:57617021-62908674
GRCh38:
Chr20:59041966-64277321
LOC132090595, LOC132090596, LOC132090597, LOC132090598, LOC132090599, LOC132090600, LOC132090601, LOC132090602, LOC132090603, LOC132090604, LOC132090605, LOC132090606, LOC132090911, LOC132090912, LOC132090913, LOC132090914, LOC132090915, LOC729296, LSM14B, MHENCR, MIR1-1, MIR1-1HG, MIR124-3, MIR1257, MIR133A2, MIR1914, MIR3195, MIR3196, MIR4326, MIR4533, MIR4758, MIR548AG2, MIR646, MIR646HG, MIR647, MIR6813, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MIR941-5, MRGBP, MTG2, MYT1, NKAIN4, NPBWR2, NTSR1, OGFR, OGFR-AS1, OPRL1, OSBPL2, PCMTD2, PHACTR3, PHACTR3-AS1, PPDPF, PPP1R3D, PRELID3B, PRPF6, PSMA7, PTK6, RBBP8NL, RGS19, RPS21, RPS21-DT, RTEL1, RTEL1-TNFRSF6B, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SLCO4A1-AS1, SLCO4A1-AS2, SLMO2-ATP5E, SNORA117, SOX18, SRMS, SS18L1, STMN3, SYCP2, TAF4, TCEA2, TCFL5, TNFRSF6B, TPD52L2, UCKL1, UCKL1-AS1, YTHDF1, ZBTB46, ZBTB46-AS1, ZBTB46-AS2, ZGPAT, ZNF512B, ZNF831, ABHD16B, ADRM1, ARFGAP1, ARFRP1, BHLHE23, BIRC7, C20orf181, C20orf204, CABLES2, CDH26, CDH4, CHRNA4, COL20A1, COL9A3, CRMA, DIDO1, DNAJC5, EDN3, EEF1A2, FAM217B, FLJ16779, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, HRH3, KCNQ2, KCNQ2-AS1, LAMA5, LAMA5-AS1, LIME1, LINC00029, LINC00659, LINC01056, LINC01718, LINC01749, LINC02910, LINC02970, LKAAEAR1, LOC100128310, LOC100130587, LOC101928048, LOC105369209, LOC105372698, LOC105372703, LOC105372710, LOC108281116, LOC110594337, LOC112268269, LOC112694725, LOC112694726, LOC112694727, LOC112694728, LOC114004357, LOC114803474, LOC120285836, LOC121627913, LOC121627914, LOC121627915, LOC121627916, LOC121853017, LOC121853018, LOC121853019, LOC121853020, LOC125387312, LOC125387313, LOC125387316, LOC125387317, LOC125387318, LOC125387319, LOC125387320, LOC126863069, LOC126863070, LOC126863071, LOC126863072, LOC126863073, LOC126863074, LOC126863075, LOC126863076, LOC126863077, LOC126863078, LOC126863079, LOC126863080, LOC126863081, LOC126863082, LOC126863083, LOC126863084, LOC126863085, LOC126863086, LOC126863087, LOC126863088, LOC126863089, LOC126863090, LOC126863091, LOC126863092, LOC128772425, LOC128772426, LOC129391203, LOC129391204, LOC129391205, LOC129391206, LOC129391207, LOC129391208, LOC129391209, LOC129391210, LOC129391211, LOC129391212, LOC129391213, LOC130066279, LOC130066280, LOC130066281, LOC130066282, LOC130066283, LOC130066284, LOC130066285, LOC130066286, LOC130066287, LOC130066288, LOC130066289, LOC130066290, LOC130066291, LOC130066292, LOC130066293, LOC130066294, LOC130066295, LOC130066296, LOC130066297, LOC130066298, LOC130066299, LOC130066300, LOC130066301, LOC130066302, LOC130066303, LOC130066304, LOC130066305, LOC130066306, LOC130066307, LOC130066308, LOC130066309, LOC130066310, LOC130066311, LOC130066312, LOC130066313, LOC130066314, LOC130066315, LOC130066316, LOC130066317, LOC130066318, LOC130066319, LOC130066320, LOC130066321, LOC130066322, LOC130066323, LOC130066324, LOC130066325, LOC130066326, LOC130066327, LOC130066328, LOC130066329, LOC130066330, LOC130066331, LOC130066332, LOC130066333, LOC130066334, LOC130066335, LOC130066336, LOC130066337, LOC130066338, LOC130066339, LOC130066340, LOC130066341, LOC130066342, LOC130066343, LOC130066344, LOC130066345, LOC130066346, LOC130066347, LOC130066348, LOC130066349, LOC130066350, LOC130066351, LOC130066352, LOC130066353, LOC130066354, LOC130066355, LOC130066356, LOC130066357, LOC130066358, LOC130066359, LOC130066360, LOC130066361, LOC130066362, LOC130066363, LOC130066364, LOC130066365, LOC130066366, LOC130066367, LOC130066368, LOC130066369, LOC130066370, LOC130066371, LOC130066372, LOC130066373, LOC130066374, LOC130066375, LOC130066376, LOC130066377, LOC130066378, LOC130066379, LOC130066380, LOC130066381, LOC130066382, LOC130066383, LOC130066384, LOC130066385, LOC130066386, LOC130066387, LOC130066388, LOC130066389, LOC130066390, LOC130066391, LOC130066392, LOC130066393, LOC130066394, LOC130066395, LOC130066396, LOC130066397, LOC130066398, LOC130066399, LOC130066400, LOC130066401, LOC130066402, LOC130066403, LOC130066404, LOC130066405, LOC130066406, LOC130066407, LOC130066408, LOC130066409, LOC130066410, LOC130066411, LOC130066412, LOC130066413, LOC130066414, LOC130066415, LOC130066416, LOC130066417, LOC130066418, LOC130066419, LOC130066420, LOC130066421, LOC130066422, LOC130066423, LOC130066424, LOC130066425, LOC130066426, LOC130066427, LOC130066428, LOC132090592, LOC132090593, LOC132090594
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
7.
GRCh37:
Chr20:59901605-62908679
GRCh38:
Chr20:61326549-64277326