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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:
Chr20:47373123-48148892
GRCh38:
Chr20:48756586-49532355
See casesUncertain significance
(Sep 21, 2012)
no assertion criteria provided
4.
GRCh37:
Chr20:47538097
GRCh38:
Chr20:48921560
ARFGEF2not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr20:47538235
GRCh38:
Chr20:48921698
ARFGEF2not providedLikely benign
(Sep 18, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr20:47538333
GRCh38:
Chr20:48921796
ARFGEF2, LOC130066080not provided, Periventricular heterotopia with microcephaly, autosomal recessiveBenign
(Jun 14, 2018)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr20:47538359
GRCh38:
Chr20:48921822
ARFGEF2, LOC130066080Periventricular heterotopia with microcephaly, autosomal recessiveUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr20:47538367
GRCh38:
Chr20:48921830
ARFGEF2, LOC130066080Periventricular heterotopia with microcephaly, autosomal recessiveUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr20:47538384
GRCh38:
Chr20:48921847
ARFGEF2, LOC130066080not provided, Periventricular heterotopia with microcephaly, autosomal recessiveConflicting interpretations of pathogenicity
(Apr 4, 2018)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr20:47538388
GRCh38:
Chr20:48921851
ARFGEF2, LOC130066080Periventricular heterotopia with microcephaly, autosomal recessive, not providedConflicting interpretations of pathogenicity
(Mar 15, 2021)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr20:47538396-47538419
GRCh38:
Chr20:48921859-48921882
ARFGEF2, LOC130066080not specifiedLikely benign
(Nov 25, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr20:47538400
GRCh38:
Chr20:48921863
ARFGEF2, LOC130066080not specifiedLikely benign
(Nov 19, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr20:47538402
GRCh38:
Chr20:48921865
ARFGEF2, LOC130066080not providedLikely benign
(Apr 30, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr20:47538422
GRCh38:
Chr20:48921885
ARFGEF2Periventricular heterotopia with microcephaly, autosomal recessiveUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr20:47538465
GRCh38:
Chr20:48921928
ARFGEF2, LOC130066081not providedLikely benign
(Aug 1, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr20:47538474
GRCh38:
Chr20:48921937
ARFGEF2, LOC130066081not provided, not specifiedConflicting interpretations of pathogenicity
(Jun 13, 2022)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr20:47538505
GRCh38:
Chr20:48921968
ARFGEF2, LOC130066081P27Snot providedUncertain significance
(Mar 13, 2014)
criteria provided, single submitter
18.
GRCh37:
Chr20:47538507
GRCh38:
Chr20:48921970
ARFGEF2, LOC130066081not providedBenign
(Oct 13, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr20:47538517
GRCh38:
Chr20:48921980
ARFGEF2Q31*Periventricular heterotopia with microcephaly, autosomal recessiveLikely pathogeniccriteria provided, single submitter
20.
GRCh37:
Chr20:47538529
GRCh38:
Chr20:48921992
ARFGEF2A35Tnot specifiedUncertain significance
(Nov 3, 2015)
criteria provided, single submitter
21.
GRCh37:
Chr20:47538534
GRCh38:
Chr20:48921997
ARFGEF2not providedLikely benign
(May 27, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr20:47538546
GRCh38:
Chr20:48922009
ARFGEF2not providedUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr20:47538559
GRCh38:
Chr20:48922022
ARFGEF2not providedLikely benign
(Aug 19, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr20:47538754
GRCh38:
Chr20:48922217
ARFGEF2not providedLikely benign
(Jul 17, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr20:47558369
GRCh38:
Chr20:48941832
ARFGEF2not providedLikely benign
(Sep 12, 2019)
criteria provided, single submitter
26.
GRCh37:
Chr20:47558384
GRCh38:
Chr20:48941847
ARFGEF2not providedLikely benign
(Jun 16, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr20:47558406
GRCh38:
Chr20:48941869
ARFGEF2G53VPeriventricular heterotopia with microcephaly, autosomal recessiveUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr20:47558417
GRCh38:
Chr20:48941880
ARFGEF2P57Snot provided, not specified, Periventricular heterotopia with microcephaly, autosomal recessive
Conflicting interpretations of pathogenicity
(Sep 1, 2023)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr20:47558420
GRCh38:
Chr20:48941883
ARFGEF2P58Snot specified, not provided, See cases
Uncertain significance
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr20:47558426
GRCh38:
Chr20:48941889
ARFGEF2A60Tnot specifiedUncertain significance
(Feb 14, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr20:47558436
GRCh38:
Chr20:48941899
ARFGEF2I63Tnot providedUncertain significance
(Sep 30, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr20:47558490
GRCh38:
Chr20:48941953
ARFGEF2P81Qno interpretation for the single variantno interpretation for the single variant
33.
GRCh37:
Chr20:47558490
Chr20:47558495-47558497
GRCh38:
Chr20:48941953
Chr20:48941958-48941960
ARFGEF2, ARFGEF2P81Q, V83fsPeriventricular heterotopia with microcephaly, autosomal recessivePathogenic
(Jan 1, 2004)
no assertion criteria provided
34.
GRCh37:
Chr20:47558495-47558497
GRCh38:
Chr20:48941958-48941960
ARFGEF2V83fsno interpretation for the single variantno interpretation for the single variant
35.
GRCh37:
Chr20:47558508
GRCh38:
Chr20:48941971
ARFGEF2S87Cnot providedUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr20:47558530
GRCh38:
Chr20:48941993
ARFGEF2not providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr20:47558623
GRCh38:
Chr20:48942086
ARFGEF2not providedLikely benign
(Nov 8, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr20:47558630
GRCh38:
Chr20:48942093
ARFGEF2not providedLikely benign
(Nov 8, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr20:47558848
GRCh38:
Chr20:48942311
ARFGEF2not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr20:47567739
GRCh38:
Chr20:48951202
ARFGEF2not providedBenign
(Jun 30, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr20:47567790
GRCh38:
Chr20:48951253
ARFGEF2not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr20:47567801
GRCh38:
Chr20:48951264
ARFGEF2not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr20:47567867
GRCh38:
Chr20:48951330
ARFGEF2I95Tnot specifiedUncertain significance
(Apr 21, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr20:47567868
GRCh38:
Chr20:48951331
ARFGEF2not specifiedLikely benign
(Feb 28, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr20:47567874
GRCh38:
Chr20:48951337
ARFGEF2not specifiedLikely benign
(Jan 15, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr20:47567913
GRCh38:
Chr20:48951376
ARFGEF2not providedLikely benign
(Aug 10, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr20:47567918
GRCh38:
Chr20:48951381
ARFGEF2K112Rnot providedUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr20:47567921
GRCh38:
Chr20:48951384
ARFGEF2R113Qnot provided, Periventricular heterotopia with microcephaly, autosomal recessiveUncertain significance
(Dec 2, 2021)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr20:47568009
GRCh38:
Chr20:48951472
ARFGEF2not specified, not provided, Periventricular heterotopia with microcephaly, autosomal recessive
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr20:47569112
GRCh38:
Chr20:48952575
ARFGEF2not providedBenign
(Jun 19, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr20:47569225
GRCh38:
Chr20:48952688
ARFGEF2not specified, not providedBenign/Likely benign
(Oct 15, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr20:47569226
GRCh38:
Chr20:48952689
ARFGEF2not specified, not providedBenign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr20:47569229
GRCh38:
Chr20:48952692
ARFGEF2not providedLikely benign
(May 22, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr20:47569271
GRCh38:
Chr20:48952734
ARFGEF2not providedLikely benign
(Jul 12, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr20:47569272
GRCh38:
Chr20:48952735
ARFGEF2I152VPeriventricular heterotopia with microcephaly, autosomal recessiveUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr20:47569278
GRCh38:
Chr20:48952741
ARFGEF2I154Vnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr20:47569307
GRCh38:
Chr20:48952770
ARFGEF2not providedLikely benign
(Oct 16, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr20:47569311
GRCh38:
Chr20:48952774
ARFGEF2T165Anot provided, not specifiedUncertain significance
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr20:47569380
GRCh38:
Chr20:48952843
ARFGEF2Q188*not providedPathogenic
(Jul 11, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr20:47569391
GRCh38:
Chr20:48952854
ARFGEF2not providedLikely benign
(Oct 5, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr20:47569404
GRCh38:
Chr20:48952867
ARFGEF2R196Cnot specifiedUncertain significance
(Aug 22, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr20:47569405
GRCh38:
Chr20:48952868
ARFGEF2R196Hnot providedUncertain significance
(Apr 4, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr20:47569439
GRCh38:
Chr20:48952902
ARFGEF2not providedLikely benign
(Aug 13, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr20:47569680-47569683
GRCh38:
Chr20:48953143-48953146
ARFGEF2not providedLikely benign
(Sep 28, 2020)
criteria provided, single submitter
65.
GRCh37:
Chr20:47569696-47569709
GRCh38:
Chr20:48953159-48953172
ARFGEF2not providedLikely benign
(Jun 25, 2020)
criteria provided, single submitter
66.
GRCh37:
Chr20:47569703
GRCh38:
Chr20:48953166
ARFGEF2not providedBenign
(Aug 10, 2019)
criteria provided, single submitter
67.
GRCh37:
Chr20:47570058
GRCh38:
Chr20:48953521
ARFGEF2not providedLikely benign
(Jul 15, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr20:47570073
GRCh38:
Chr20:48953536
ARFGEF2not providedLikely benign
(Aug 22, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr20:47570114
GRCh38:
Chr20:48953577
ARFGEF2E209Knot specified, not provided, Periventricular heterotopia with microcephaly, autosomal recessive
Conflicting interpretations of pathogenicity
(Oct 27, 2022)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr20:47570141-47570142
GRCh38:
Chr20:48953604-48953605
ARFGEF2V220fsnot providedPathogenic
(Mar 10, 2015)
criteria provided, single submitter
71.
GRCh37:
Chr20:47570145
GRCh38:
Chr20:48953608
ARFGEF2P219LInborn genetic diseasesUncertain significance
(May 5, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr20:47570183
GRCh38:
Chr20:48953646
ARFGEF2R232GInborn genetic diseasesUncertain significance
(Dec 5, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr20:47570183
GRCh38:
Chr20:48953646
ARFGEF2R232Cnot provided, Periventricular heterotopia with microcephaly, autosomal recessiveUncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr20:47570184
GRCh38:
Chr20:48953647
ARFGEF2R232Hnot provided, Periventricular heterotopia with microcephaly, autosomal recessive, not specified
Uncertain significance
(Aug 11, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr20:47570188
GRCh38:
Chr20:48953651
ARFGEF2Periventricular heterotopia with microcephaly, autosomal recessiveUncertain significance
(Mar 30, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr20:47570195
GRCh38:
Chr20:48953658
ARFGEF2S236Cnot providedUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr20:47570199
GRCh38:
Chr20:48953662
ARFGEF2Q237Rnot providedUncertain significance
(Feb 3, 2020)
criteria provided, single submitter
78.
GRCh37:
Chr20:47570208
GRCh38:
Chr20:48953671
ARFGEF2S240Nnot providedUncertain significance
(Jun 30, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr20:47570217
GRCh38:
Chr20:48953680
ARFGEF2T243RPeriventricular heterotopia with microcephaly, autosomal recessiveUncertain significance
(Aug 6, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr20:47570226
GRCh38:
Chr20:48953689
ARFGEF2E246VInborn genetic diseasesUncertain significance
(Jan 23, 2023)
criteria provided, single submitter
81.
GRCh37:
Chr20:47570243
GRCh38:
Chr20:48953706
ARFGEF2N252Ynot providedUncertain significance
(May 25, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr20:47570245
GRCh38:
Chr20:48953708
ARFGEF2not specifiedLikely benign
(May 1, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr20:47570245
GRCh38:
Chr20:48953708
ARFGEF2N252Knot providedUncertain significance
(Mar 17, 2014)
criteria provided, single submitter
84.
GRCh37:
Chr20:47570246
GRCh38:
Chr20:48953709
ARFGEF2G253Snot providedUncertain significance
(Feb 3, 2020)
criteria provided, single submitter
85.
GRCh37:
Chr20:47570259
GRCh38:
Chr20:48953722
ARFGEF2R257KPeriventricular heterotopia with microcephaly, autosomal recessive, not providedConflicting interpretations of pathogenicity
(Jul 5, 2022)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr20:47570266
GRCh38:
Chr20:48953729
ARFGEF2not providedLikely benign
(Oct 22, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr20:47570296
GRCh38:
Chr20:48953759
ARFGEF2not specified, not provided, Periventricular heterotopia with microcephaly, autosomal recessive
Conflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr20:47570297
GRCh38:
Chr20:48953760
ARFGEF2A270Tnot specifiedUncertain significance
(Dec 11, 2014)
criteria provided, single submitter
89.
GRCh37:
Chr20:47570299
GRCh38:
Chr20:48953762
ARFGEF2not providedLikely benign
(Oct 4, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr20:47570300
GRCh38:
Chr20:48953763
ARFGEF2P271Anot provided, not specified, Periventricular heterotopia with microcephaly, autosomal recessive
Conflicting interpretations of pathogenicity
(Aug 19, 2022)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr20:47570304
GRCh38:
Chr20:48953767
ARFGEF2R272KInborn genetic diseasesUncertain significance
(Jun 11, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr20:47570323
GRCh38:
Chr20:48953786
ARFGEF2not providedLikely benign
(Aug 21, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr20:47570337
GRCh38:
Chr20:48953800
ARFGEF2not providedLikely benign
(Sep 1, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr20:47570342
GRCh38:
Chr20:48953805
ARFGEF2not providedLikely benign
(Aug 4, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr20:47580347
GRCh38:
Chr20:48963810
ARFGEF2not provided, not specifiedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr20:47580373
GRCh38:
Chr20:48963836
ARFGEF2D282Vnot providedUncertain significance
(May 29, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr20:47580374
GRCh38:
Chr20:48963837
ARFGEF2D282Enot provided, not specifiedUncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr20:47580375
GRCh38:
Chr20:48963838
ARFGEF2D283Nnot provided, Periventricular heterotopia with microcephaly, autosomal recessiveUncertain significance
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr20:47580377
GRCh38:
Chr20:48963840
ARFGEF2not providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr20:47580378
GRCh38:
Chr20:48963841
ARFGEF2G284Rnot providedUncertain significance
(Jun 12, 2022)
criteria provided, single submitter
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