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Items: 1 to 100 of 690

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr15:60120659-102461201
GRCh38:
Chr15:59828460-101920998
LOC130057816, LOC130057817, LOC130057818, LOC130057819, LOC130057820, LOC130057821, LOC130057822, LOC130057823, LOC130057824, LOC130057825, LOC130057826, LOC130057827, LOC130057828, LOC130057829, LOC130057830, LOC130057831, LOC130057832, LOC130057833, LOC130057834, LOC130057835, LOC130057836, LOC130057837, LOC130057838, LOC130057839, LOC130057840, LOC130057841, LOC130057842, LOC130057843, LOC130057844, LOC130057845, LOC130057846, LOC130057847, LOC130057848, LOC130057849, LOC130057850, LOC130057851, LOC130057852, LOC130057853, LOC130057854, LOC130057855, LOC130057856, LOC130057857, LOC130057858, LOC130057859, LOC130057860, LOC130057861, LOC130057862, LOC130057863, LOC130057864, LOC130057865, LOC130057866, LOC130057867, LOC130057868, LOC130057869, LOC130057870, LOC130057871, LOC130057872, LOC130057873, LOC130057874, LOC130057875, LOC130057876, LOC130057877, LOC130057878, LOC130057879, LOC130057880, LOC130057881, LOC130057882, LOC130057883, LOC130057884, LOC130057885, LOC130057886, LOC130057887, LOC130057888, LOC130057889, LOC130057890, LOC130057891, LOC130057892, LOC130057893, LOC130057894, LOC130057895, LOC130057896, LOC130057897, LOC130057898, LOC130057899, LOC130057900, LOC130057901, LOC130057902, LOC130057903, LOC130057904, LOC130057905, LOC130057906, LOC130057907, LOC130057908, LOC130057909, LOC130057910, LOC130057911, LOC130057912, LOC130057913, LOC130057914, LOC130057915, LOC130057916, LOC130057917, LOC130057918, LOC130057919, LOC130057920, LOC130057921, LOC130057922, LOC130057923, LOC130057924, LOC130057925, LOC130057926, LOC130057927, LOC130057928, LOC130057929, LOC130057930, LOC130057931, LOC130057932, LOC130057933, LOC130057934, LOC130057935, LOC130057936, LOC130057937, LOC130057938, LOC130057939, LOC130057940, LOC130057941, LOC130057942, LOC130057943, LOC130057944, LOC130057945, LOC130057946, LOC130057947, LOC130057948, LOC130057949, LOC130057950, LOC130057951, LOC130057952, LOC130057953, LOC130057954, LOC130057955, LOC130057956, LOC130057957, LOC130057958, LOC130057959, LOC130057960, LOC130057961, LOC130057962, LOC130057963, LOC130057964, LOC130057965, LOC130057966, LOC130057967, LOC130057968, LOC130057969, LOC130057970, LOC130057971, LOC130057972, LOC130057973, LOC130057974, LOC130057975, LOC130057976, LOC130057977, LOC130057978, LOC130057979, LOC130057980, LOC130057981, LOC130057982, LOC130057983, LOC130057984, LOC130057985, LOC130057986, LOC130057987, LOC130057988, LOC130057989, LOC130057990, LOC130057991, LOC130057992, LOC130057993, LOC130057994, LOC130057995, LOC130057996, LOC130057997, LOC130057998, LOC130057999, LOC130058000, LOC130058001, LOC130058002, LOC130058003, LOC130058004, LOC130058005, LOC130058006, LOC130058007, LOC130058008, LOC130058009, LOC130058010, LOC130058011, LOC130058012, LOC130058013, LOC130058014, LOC130058015, LOC130058016, LOC130058017, LOC130058018, LOC130058019, LOC130058020, LOC130058021, LOC130058022, LOC130058023, LOC130058024, LOC130058025, LOC130058026, LOC130058027, LOC130058028, LOC130058029, LOC130058030, LOC130058031, LOC130058032, LOC130058033, LOC130058034, LOC130058035, LOC130058036, LOC130058037, LOC130058038, LOC130058039, LOC130058040, LOC130058041, LOC130058042, LOC130058043, LOC130058044, LOC130058045, LOC130058046, LOC130058047, LOC130058048, LOC130058049, LOC130058050, LOC130058051, LOC130058052, LOC130058053, LOC130058054, LOC130058055, LOC130058056, LOC130058057, LOC130058058, LOC130058059, LOC130058060, LOC130058061, LOC130058062, LOC130058063, LOC130058064, LOC130058065, LOC130058066, LOC130058067, LOC130058068, LOC130058069, LOC130058070, LOC130058071, LOC130058072, LOC130058073, LOC130058074, LOC130058075, LOC130058076, LOC130058077, LOC130058078, LOC130058079, LOC130058080, LOC130058081, LOC130058082, LOC132090322, LOC132090323, LOC132090324, LOC132090325, LOC132090326, LOC132090327, LOC132090328, LOC132090329, LOC132090330, LOC132090331, LOC132090332, LOC132090333, LOC132090334, LOC132090335, LOC132090336, LOC132090337, LOC132090338, LOC132090339, LOC132090340, LOC132090341, LOC132090342, LOC132090343, LOC132090344, LOC132090345, LOC132090346, LOC132090347, LOC132090348, LOC132090349, LOC132090350, LOC132090351, LOC132090352, LOC132090353, LOC132090354, LOC132090355, LOC132090356, LOC132090357, LOC132090358, LOC132090359, LOC132090360, LOC132090361, LOC132090362, LOC132090363, LOC132090364, LOC132090365, LOC132090366, LOC132090367, LOC132090368, LOC132090369, LOC132090881, LOC132090882, LOC132090883, LOC132090884, LOC132090885, LOC132090886, LOC283731, LOC91450, LOXL1, LOXL1-AS1, LRRC28, LRRC49, LRRK1, LUNAR1, LYSMD4, MAN2A2, MAN2C1, MAP2K1, MAP2K5, MAP2K5-DT, MCTP2, MEF2A, MEGF11, MESD, MESP1, MESP2, MEX3B, MFGE8, MGC15885, MINAR1, MIR11181, MIR1179, MIR12135, MIR1272, MIR1276, MIR1469, MIR184, MIR190A, MIR3174, MIR3175, MIR3529, MIR3713, MIR422A, MIR4311, MIR4312, MIR4313, MIR4511, MIR4512, MIR4513, MIR4514, MIR4515, MIR4714, MIR5009, MIR5094, MIR548AP, MIR549A, MIR5572, MIR6085, MIR629, MIR630, MIR631, MIR6766, MIR6881, MIR6882, MIR7-2, MIR7706, MIR8067, MIR9-3, MIR9-3HG, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MYO9A, NEIL1, NEO1, NGRN, NMB, NOX5, NPTN, NPTN-IT1, NR2E3, NR2F2, NR2F2-AS1, NRG4, NTRK3, NTRK3-AS1, OAZ2, OR4F15, OR4F6, PAQR5, PAQR5-DT, PARP16, PARP6, PCAT29, PCLAF, PCSK6, PCSK6-AS1, PDCD7, PDE8A, PEAK1, PEX11A, PGPEP1L, PIAS1, PIF1, PIRC76, PKM, PLEKHO2, PLIN1, PML, POLG, POLG-DT, POLGARF, PPCDC, PPIB, PRC1, PRC1-AS1, PSMA4, PSTPIP1, PTPN9, RAB11A, RAB8B, RAMAC, RASGRF1, RASL12, RBPMS2, RCCD1, RCCD1-AS1, RCN2, REC114, RGMA, RHCG, RLBP1, RNU5A-1, RNU5B-1, RNU6-1, RORA, RORA-AS1, RORA-AS2, RPL4, RPLP1, RPP25, RPS17, RPS27L, SALRNA2, SALRNA3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA14, SCARNA15, SEC11A, SELENOS, SEMA4B, SEMA7A, SENP8, SH2D7, SH3GL3, SIN3A, SKIC8, SKOR1, SKOR1-AS1, SLC24A1, SLC28A1, SLC51B, SLCO3A1, SMAD3, SMAD3-AS1, SMAD3-DT, SMAD6, SMASR, SNAPC5, SNHG21, SNORA24B, SNORD13E, SNORD16, SNORD18A, SNORD18B, SNORD18C, SNRPA1, SNRPA1-DT, SNUPN, SNX1, SNX22, SNX33, SPATA41, SPATA8, SPATA8-AS1, SPESP1, SPG21, ST20, ST20-AS1, ST20-MTHFS, ST8SIA2, STARD5, STOML1, STRA6, LOC130057296, LOC130057297, LOC130057298, LOC130057299, LOC130057300, LOC130057301, LOC130057302, LOC130057303, LOC130057304, LOC130057305, LOC130057306, LOC130057307, LOC130057308, LOC130057309, LOC130057310, LOC130057311, LOC130057312, LOC130057313, LOC130057314, LOC130057315, LOC130057316, LOC130057317, LOC130057318, LOC130057319, LOC130057320, LOC130057321, LOC130057322, LOC130057323, LOC130057324, LOC130057325, LOC130057326, LOC130057327, LOC130057328, LOC130057329, LOC130057330, LOC130057331, LOC130057332, LOC130057333, LOC130057334, LOC130057335, LOC130057336, LOC130057337, LOC130057338, LOC130057339, LOC130057340, LOC130057341, LOC130057342, LOC130057343, LOC130057344, LOC130057345, LOC130057346, LOC130057347, LOC130057348, LOC130057349, LOC130057350, LOC130057351, LOC130057352, LOC130057353, LOC130057354, LOC130057355, LOC130057356, LOC130057357, LOC130057358, LOC130057359, LOC130057360, LOC130057361, LOC130057362, LOC130057363, LOC130057364, LOC130057365, LOC130057366, LOC130057367, LOC130057368, LOC130057369, LOC130057370, LOC130057371, LOC130057372, LOC130057373, LOC130057374, LOC130057375, LOC130057376, LOC130057377, LOC130057378, LOC130057379, LOC130057380, LOC130057381, LOC130057382, LOC130057383, LOC130057384, LOC130057385, LOC130057386, LOC130057387, LOC130057388, LOC130057389, LOC130057390, LOC130057391, LOC130057392, LOC130057393, LOC130057394, LOC130057395, LOC130057396, LOC130057397, LOC130057398, LOC130057399, LOC130057400, LOC130057401, LOC130057402, LOC130057403, LOC130057404, LOC130057405, LOC130057406, LOC130057407, LOC130057408, LOC130057409, LOC130057410, LOC130057411, LOC130057412, LOC130057413, LOC130057414, LOC130057415, LOC130057416, LOC130057417, LOC130057418, LOC130057419, LOC130057420, LOC130057421, LOC130057422, LOC130057423, LOC130057424, LOC130057425, LOC130057426, LOC130057427, LOC130057428, LOC130057429, LOC130057430, LOC130057431, LOC130057432, LOC130057433, LOC130057434, LOC130057435, LOC130057436, LOC130057437, LOC130057438, LOC130057439, LOC130057440, LOC130057441, LOC130057442, LOC130057443, LOC130057444, LOC130057445, LOC130057446, LOC130057447, LOC130057448, LOC130057449, LOC130057450, LOC130057451, LOC130057452, LOC130057453, LOC130057454, LOC130057455, LOC130057456, LOC130057457, LOC130057458, LOC130057459, LOC130057460, LOC130057461, LOC130057462, LOC130057463, LOC130057464, LOC130057465, LOC130057466, LOC130057467, LOC130057468, LOC130057469, LOC130057470, LOC130057471, LOC130057472, LOC130057473, LOC130057474, LOC130057475, LOC130057476, LOC130057477, LOC130057478, LOC130057479, LOC130057480, LOC130057481, LOC130057482, LOC130057483, LOC130057484, LOC130057485, LOC130057486, LOC130057487, LOC130057488, LOC130057489, LOC130057490, LOC130057491, LOC130057492, LOC130057493, LOC130057494, LOC130057495, LOC130057496, LOC130057497, LOC130057498, LOC130057499, LOC130057500, LOC130057501, LOC130057502, LOC130057503, LOC130057504, LOC130057505, LOC130057506, LOC130057507, LOC130057508, LOC130057509, LOC130057510, LOC130057511, LOC130057512, LOC130057513, LOC130057514, LOC130057515, LOC130057516, LOC130057517, LOC130057518, LOC130057519, LOC130057520, LOC130057521, LOC130057522, LOC130057523, LOC130057524, LOC130057525, LOC130057526, LOC130057527, LOC130057528, LOC130057529, LOC130057530, LOC130057531, LOC130057532, LOC130057533, LOC130057534, LOC130057535, LOC130057536, LOC130057537, LOC130057538, LOC130057539, LOC130057540, LOC130057541, LOC130057542, LOC130057543, LOC130057544, LOC130057545, LOC130057546, LOC130057547, LOC130057548, LOC130057549, LOC130057550, LOC130057551, LOC130057552, LOC130057553, LOC130057554, LOC130057555, LOC130057556, LOC130057557, LOC130057558, LOC130057559, LOC130057560, LOC130057561, LOC130057562, LOC130057563, LOC130057564, LOC130057565, LOC130057566, LOC130057567, LOC130057568, LOC130057569, LOC130057570, LOC130057571, LOC130057572, LOC130057573, LOC130057574, LOC130057575, LOC130057576, LOC130057577, LOC130057578, LOC130057579, LOC130057580, LOC130057581, LOC130057582, LOC130057583, LOC130057584, LOC130057585, LOC130057586, LOC130057587, LOC130057588, LOC130057589, LOC130057590, LOC130057591, LOC130057592, LOC130057593, LOC130057594, LOC130057595, LOC130057596, LOC130057597, LOC130057598, LOC130057599, LOC130057600, LOC130057601, LOC130057602, LOC130057603, LOC130057604, LOC130057605, LOC130057606, LOC130057607, LOC130057608, LOC130057609, LOC130057610, LOC130057611, LOC130057612, LOC130057613, LOC130057614, LOC130057615, LOC130057616, LOC130057617, LOC130057618, LOC130057619, LOC130057620, LOC130057621, LOC130057622, LOC130057623, LOC130057624, LOC130057625, LOC130057626, LOC130057627, LOC130057628, LOC130057629, LOC130057630, LOC130057631, LOC130057632, LOC130057633, LOC130057634, LOC130057635, LOC130057636, LOC130057637, LOC130057638, LOC130057639, LOC130057640, LOC130057641, LOC130057642, LOC130057643, LOC130057644, LOC130057645, LOC130057646, LOC130057647, LOC130057648, LOC130057649, LOC130057650, LOC130057651, LOC130057652, LOC130057653, LOC130057654, LOC130057655, LOC130057656, LOC130057657, LOC130057658, LOC130057659, LOC130057660, LOC130057661, LOC130057662, LOC130057663, LOC130057664, LOC130057665, LOC130057666, LOC130057667, LOC130057668, LOC130057669, LOC130057670, LOC130057671, LOC130057672, LOC130057673, LOC130057674, LOC130057675, LOC130057676, LOC130057677, LOC130057678, LOC130057679, LOC130057680, LOC130057681, LOC130057682, LOC130057683, LOC130057684, LOC130057685, LOC130057686, LOC130057687, LOC130057688, LOC130057689, LOC130057690, LOC130057691, LOC130057692, LOC130057693, LOC130057694, LOC130057695, LOC130057696, LOC130057697, LOC130057698, LOC130057699, LOC130057700, LOC130057701, LOC130057702, LOC130057703, LOC130057704, LOC130057705, LOC130057706, LOC130057707, LOC130057708, LOC130057709, LOC130057710, LOC130057711, LOC130057712, LOC130057713, LOC130057714, LOC130057715, LOC130057716, LOC130057717, LOC130057718, LOC130057719, LOC130057720, LOC130057721, LOC130057722, LOC130057723, LOC130057724, LOC130057725, LOC130057726, LOC130057727, LOC130057728, LOC130057729, LOC130057730, LOC130057731, LOC130057732, LOC130057733, LOC130057734, LOC130057735, LOC130057736, LOC130057737, LOC130057738, LOC130057739, LOC130057740, LOC130057741, LOC130057742, LOC130057743, LOC130057744, LOC130057745, LOC130057746, LOC130057747, LOC130057748, LOC130057749, LOC130057750, LOC130057751, LOC130057752, LOC130057753, LOC130057754, LOC130057755, LOC130057756, LOC130057757, LOC130057758, LOC130057759, LOC130057760, LOC130057761, LOC130057762, LOC130057763, LOC130057764, LOC130057765, LOC130057766, LOC130057767, LOC130057768, LOC130057769, LOC130057770, LOC130057771, LOC130057772, LOC130057773, LOC130057774, LOC130057775, LOC130057776, LOC130057777, LOC130057778, LOC130057779, LOC130057780, LOC130057781, LOC130057782, LOC130057783, LOC130057784, LOC130057785, LOC130057786, LOC130057787, LOC130057788, LOC130057789, LOC130057790, LOC130057791, LOC130057792, LOC130057793, LOC130057794, LOC130057795, LOC130057796, LOC130057797, LOC130057798, LOC130057799, LOC130057800, LOC130057801, LOC130057802, LOC130057803, LOC130057804, LOC130057805, LOC130057806, LOC130057807, LOC130057808, LOC130057809, LOC130057810, LOC130057811, LOC130057812, LOC130057813, LOC130057814, LOC130057815, IQGAP1, IRAIN, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, KBTBD13, KIF23, KIF23-AS1, KIF7, KLHL25, LACTB, LARP6, LCTL, LETR1, LINC00052, LINC00593, LINC00597, LINC00923, LINC00924, LINC00927, LINC00928, LINC00930, LINC00933, LINC01169, LINC01418, LINC01579, LINC01580, LINC01581, LINC01582, LINC01583, LINC01584, LINC01585, LINC01586, LINC02204, LINC02205, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02255, LINC02259, LINC02348, LINC02349, LINC02351, LINC02568, LINC02883, LINGO1, LINGO1-AS1, LINGO1-AS2, LINS1, LMAN1L, LOC100129540, LOC100507472, LOC101927310, LOC101928850, LOC101928988, LOC101929439, LOC101929457, LOC101929586, LOC102723335, LOC102724034, LOC102724452, LOC102724465, LOC103171574, LOC104613533, LOC105369212, LOC105370890, LOC105370947, LOC105370954, LOC105370973, LOC105370980, LOC105370987, LOC105370993, LOC105370997, LOC105371006, LOC105371017, LOC105371031, LOC107984784, LOC107988046, LOC107992387, LOC108251791, LOC108281191, LOC108964933, LOC110120860, LOC110120861, LOC110120917, LOC110121345, LOC110121383, LOC110121430, LOC110121464, LOC110121491, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC111365216, LOC111413015, LOC111413032, LOC111413043, LOC111562369, LOC111718493, LOC111822949, LOC112272574, LOC112272602, LOC112272603, LOC112272604, LOC112272605, LOC112272606, LOC112272607, LOC112272608, LOC112272609, LOC112272610, LOC112272613, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC112272621, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC113939945, LOC113939946, LOC113939947, LOC114827858, LOC116268467, LOC116268468, LOC116268471, LOC116268472, LOC116268473, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC120285840, LOC121530585, LOC121530586, LOC121530587, LOC121530588, LOC121530589, LOC121530590, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121530595, LOC121530596, LOC121530597, LOC121530598, LOC121530599, LOC121530600, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847953, LOC121847954, LOC121847955, LOC121847956, LOC121847957, LOC121847958, LOC121847959, LOC121847960, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125078089, LOC125078090, LOC125078091, LOC125078093, LOC125078094, LOC125078095, LOC125078096, LOC125078097, LOC125078098, LOC125078099, LOC125078100, LOC125078101, LOC125078102, LOC125078103, LOC125078104, LOC125110343, LOC125110344, LOC125110345, LOC125110346, LOC125110347, LOC125110348, LOC125110349, LOC125110350, LOC125110351, LOC125110352, LOC125110353, LOC125110354, LOC125110355, LOC125110356, LOC125110357, LOC125138289, LOC125138290, LOC125138291, LOC125138292, LOC125138293, LOC125138294, LOC125138295, LOC125138296, LOC125138297, LOC125138298, LOC125138299, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862143, LOC126862144, LOC126862145, LOC126862146, LOC126862147, LOC126862148, LOC126862149, LOC126862150, LOC126862151, LOC126862152, LOC126862153, LOC126862154, LOC126862155, LOC126862156, LOC126862157, LOC126862158, LOC126862159, LOC126862160, LOC126862161, LOC126862162, LOC126862163, LOC126862164, LOC126862165, LOC126862166, LOC126862167, LOC126862168, LOC126862169, LOC126862170, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC126862183, LOC126862184, LOC126862185, LOC126862186, LOC126862187, LOC126862188, LOC126862189, LOC126862190, LOC126862191, LOC126862192, LOC126862193, LOC126862194, LOC126862195, LOC126862196, LOC126862197, LOC126862198, LOC126862199, LOC126862200, LOC126862201, LOC126862202, LOC126862203, LOC126862204, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LOC128071545, LOC129390711, LOC129390712, LOC129390713, LOC129390714, LOC129390715, LOC129390716, LOC129390717, LOC129390718, LOC129390719, LOC129390720, LOC129390721, LOC129390722, LOC129390723, LOC129390724, LOC129390725, LOC129390726, LOC129390727, LOC129390728, LOC129390729, LOC129390730, LOC129390731, LOC129390732, LOC129390733, LOC129390734, LOC129390735, LOC129390736, LOC129390737, LOC129390738, LOC129390739, LOC129390740, LOC129390741, LOC129390742, LOC129390743, LOC129390744, LOC129390745, LOC129390746, LOC129390747, LOC129390748, LOC129390749, LOC129390750, LOC129390751, LOC129390752, LOC130057188, LOC130057189, LOC130057190, LOC130057191, LOC130057192, LOC130057193, LOC130057194, LOC130057195, LOC130057196, LOC130057197, LOC130057198, LOC130057199, LOC130057200, LOC130057201, LOC130057202, LOC130057203, LOC130057204, LOC130057205, LOC130057206, LOC130057207, LOC130057208, LOC130057209, LOC130057210, LOC130057211, LOC130057212, LOC130057213, LOC130057214, LOC130057215, LOC130057216, LOC130057217, LOC130057218, LOC130057219, LOC130057220, LOC130057221, LOC130057222, LOC130057223, LOC130057224, LOC130057225, LOC130057226, LOC130057227, LOC130057228, LOC130057229, LOC130057230, LOC130057231, LOC130057232, LOC130057233, LOC130057234, LOC130057235, LOC130057236, LOC130057237, LOC130057238, LOC130057239, LOC130057240, LOC130057241, LOC130057242, LOC130057243, LOC130057244, LOC130057245, LOC130057246, LOC130057247, LOC130057248, LOC130057249, LOC130057250, LOC130057251, LOC130057252, LOC130057253, LOC130057254, LOC130057255, LOC130057256, LOC130057257, LOC130057258, LOC130057259, LOC130057260, LOC130057261, LOC130057262, LOC130057263, LOC130057264, LOC130057265, LOC130057266, LOC130057267, LOC130057268, LOC130057269, LOC130057270, LOC130057271, LOC130057272, LOC130057273, LOC130057274, LOC130057275, LOC130057276, LOC130057277, LOC130057278, LOC130057279, LOC130057280, LOC130057281, LOC130057282, LOC130057283, LOC130057284, LOC130057285, LOC130057286, LOC130057287, LOC130057288, LOC130057289, LOC130057290, LOC130057291, LOC130057292, LOC130057293, LOC130057294, LOC130057295, AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, ADPGK-AS1, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANKDD1A, ANKRD34C, ANKRD34C-AS1, ANP32A, ANP32A-IT1, ANPEP, ANXA2, AP3B2, AP3S2, APH1B, ARID3B, ARIH1, ARNT2, ARNT2-DT, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BBS4, BCL2A1, BLM, BNC1, BTBD1, C15orf32, C15orf39, C15orf40, C15orf61, C2CD4A, C2CD4B, CA12, CALML4, CARMAL, CCDC33, CD276, CELF6, CEMIP, CERS3, CERS3-AS1, CFAP161, CHASERR, CHD2, CHRNA3, CHRNA5, CHRNB4, CHSY1, CIAO2A, CIB1, CIB2, CILP, CIMAP1C, CLK3, CLN6, CLPX, COMMD4, CORO2B, COX5A, CPEB1, CPEB1-AS1, CPLX3, CRABP1, CRAT37, CRTC3, CRTC3-AS1, CSK, CSNK1G1, CSPG4, CT62, CTSH, CTXND1, CYP11A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DIS3L-AS1, DNAJA4, DNAJA4-DT, DPP8, DRAIC, EDC3, EFL1, ETFA, EWSAT1, FAH, FAM174B, FAM219B, FANCI, FBXL22, FBXO22, FEM1B, FES, FOXB1, FSD2, FURIN, GCAWKR, GDPGP1, GLCE, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L10, GOLGA6L4, GOLGA6L9, GRAMD2A, HACD3, HAPLN3, HCN4, HDDC3, HDGFL3, HERC1, HEXA, HEXA-AS1, HIGD2B, HMG20A, HOMER2, HYKK, ICE2, IDH2, IDH2-DT, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INSYN1, INSYN1-AS1, INTS14, IQCH, IQCH-AS1, SV2B, SYNM, SYNM-AS1, TARS3, TBC1D21, TBC1D2B, THAP10, THSD4, THSD4-AS1, THSD4-AS2, TICRR, TIPIN, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMC3-AS1, TMED3, TMEM202, TMEM202-AS1, TMEM266, TPM1, TPM1-AS, TRC-GCA5-1, TRIP4, TRK-CTT1-2, TRQ-CTG1-4, TRR-TCG1-1, TSPAN3, TTC23, TTC23-AS1, TTLL13, UACA, UBAP1L, UBE2Q2, UBL7, UBL7-DT, ULK3, UNC45A, USP3, USP3-AS1, VPS13C, VPS13C-DT, VPS33B, VPS33B-DT, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF609, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2, ZWILCH
See casesPathogenic
(Oct 24, 2012)		no assertion criteria provided
2.
GRCh37:
Chr15:72447290-102461201
GRCh38:
Chr15:72154949-101920998
ABHD17C, ABHD2, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, ADPGK-AS1, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANKRD34C, ANKRD34C-AS1, ANPEP, AP3B2, AP3S2, ARID3B, ARIH1, ARNT2, ARNT2-DT, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BBS4, BCL2A1, BLM, BNC1, BTBD1, C15orf32, C15orf39, C15orf40, CARMAL, CCDC33, CD276, CELF6, CEMIP, CERS3, CERS3-AS1, CFAP161, CHASERR, CHD2, CHRNA3, CHRNA5, CHRNB4, CHSY1, CIB1, CIB2, CIMAP1C, CLK3, COMMD4, COX5A, CPEB1, CPEB1-AS1, CPLX3, CRABP1, CRAT37, CRTC3, CRTC3-AS1, CSK, CSPG4, CTSH, CTXND1, CYP11A1, CYP1A1, CYP1A2, DET1, DNAJA4, DNAJA4-DT, EDC3, EFL1, ETFA, FAH, FAM174B, FAM219B, FANCI, FBXO22, FES, FSD2, FURIN, GCAWKR, GDPGP1, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L10, GOLGA6L4, GOLGA6L9, GRAMD2A, HAPLN3, HCN4, HDDC3, HDGFL3, HEXA, HEXA-AS1, HIGD2B, HMG20A, HOMER2, HYKK, IDH2, IDH2-DT, IDH3A, IGF1R, IL16, IMP3, INSYN1, INSYN1-AS1, IQGAP1, IRAIN, IREB2, ISG20, ISL2, ISLR, ISLR2, KIF7, KLHL25, LETR1, LINC00052, LINC00597, LINC00923, LINC00924, LINC00927, LINC00928, LINC00930, PTPN9, RAMAC, RASGRF1, RCCD1, RCCD1-AS1, RCN2, REC114, RGMA, RHCG, RLBP1, RPP25, RPS17, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SEC11A, SELENOS, SEMA4B, SEMA7A, SH2D7, SH3GL3, SIN3A, SKIC8, SLC28A1, SLCO3A1, SNHG21, SNRPA1, SNRPA1-DT, SNUPN, SNX33, SPATA41, SPATA8, SPATA8-AS1, ST20, ST20-AS1, ST20-MTHFS, ST8SIA2, STARD5, STOML1, STRA6, SV2B, SYNM, SYNM-AS1, TARS3, TBC1D21, TBC1D2B, TICRR, TLNRD1, TM2D3, TM6SF1, TMC3, TMC3-AS1, TMED3, TMEM202, TMEM202-AS1, TMEM266, TRC-GCA5-1, TRK-CTT1-2, TRR-TCG1-1, TSPAN3, TTC23, TTC23-AS1, TTLL13, UBE2Q2, UBL7, UBL7-DT, ULK3, UNC45A, VPS33B, VPS33B-DT, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2, LOC130057697, LOC130057698, LOC130057699, LOC130057700, LOC130057701, LOC130057702, LOC130057703, LOC130057704, LOC130057705, LOC130057706, LOC130057707, LOC130057708, LOC130057709, LOC130057710, LOC130057711, LOC130057712, LOC130057713, LOC130057714, LOC130057715, LOC130057716, LOC130057717, LOC130057718, LOC130057719, LOC130057720, LOC130057721, LOC130057722, LOC130057723, LOC130057724, LOC130057725, LOC130057726, LOC130057727, LOC130057728, LOC130057729, LOC130057730, LOC130057731, LOC130057732, LOC130057733, LOC130057734, LOC130057735, LOC130057736, LOC130057737, LOC130057738, LOC130057739, LOC130057740, LOC130057741, LOC130057742, LOC130057743, LOC130057744, LOC130057745, LOC130057746, LOC130057747, LOC130057748, LOC130057749, LOC130057750, LOC130057751, LOC130057752, LOC130057753, LOC130057754, LOC130057755, LOC130057756, LOC130057757, LOC130057758, LOC130057759, LOC130057760, LOC130057761, LOC130057762, LOC130057763, LOC130057764, LOC130057765, LOC130057766, LOC130057767, LOC130057768, LOC130057769, LOC130057770, LOC130057771, LOC130057772, LOC130057773, LOC130057774, LOC130057775, LOC130057776, LOC130057777, LOC130057778, LOC130057779, LOC130057780, LOC130057781, LOC130057782, LOC130057783, LOC130057784, LOC130057785, LOC130057786, LOC130057787, LOC130057788, LOC130057789, LOC130057790, LOC130057791, LOC130057792, LOC130057793, LOC130057794, LOC130057795, LOC130057796, LOC130057797, LOC130057798, LOC130057799, LOC130057800, LOC130057801, LOC130057802, LOC130057803, LOC130057804, LOC130057805, LOC130057806, LOC130057807, LOC130057808, LOC130057809, LOC130057810, LOC130057811, LOC130057812, LOC130057813, LOC130057814, LOC130057815, LOC130057816, LOC130057817, LOC130057818, LOC130057819, LOC130057820, LOC130057821, LOC130057822, LOC130057823, LOC130057824, LOC130057825, LOC130057826, LOC130057827, LOC130057828, LOC130057829, LOC130057830, LOC130057831, LOC130057832, LOC130057833, LOC130057834, LOC130057835, LOC130057836, LOC130057837, LOC130057838, LOC130057839, LOC130057840, LOC130057841, LOC130057842, LOC130057843, LOC130057844, LOC130057845, LOC130057846, LOC130057847, LOC130057848, LOC130057849, LOC130057850, LOC130057851, LOC130057852, LOC130057853, LOC130057854, LOC130057855, LOC130057856, LOC130057857, LOC130057858, LOC130057859, LOC130057860, LOC130057861, LOC130057862, LOC130057863, LOC130057864, LOC130057865, LOC130057866, LOC130057867, LOC130057868, LOC130057869, LOC130057870, LOC130057871, LOC130057872, LOC130057873, LOC130057874, LOC130057875, LOC130057876, LOC130057877, LOC130057878, LOC130057879, LOC130057880, LOC130057881, LOC130057882, LOC130057883, LOC130057884, LOC130057885, LOC130057886, LOC130057887, LOC130057888, LOC130057889, LOC130057890, LOC130057891, LOC130057892, LOC130057893, LOC130057894, LOC130057895, LOC130057896, LOC130057897, LOC130057898, LOC130057899, LOC130057900, LOC130057901, LOC130057902, LOC130057903, LOC130057904, LOC130057905, LOC130057906, LOC130057907, LOC130057908, LOC130057909, LOC130057910, LOC130057911, LOC130057912, LOC130057913, LOC130057914, LOC130057915, LOC130057916, LOC130057917, LOC130057918, LOC130057919, LOC130057920, LOC130057921, LOC130057922, LOC130057923, LOC130057924, LOC130057925, LOC130057926, LOC130057927, LOC130057928, LOC130057929, LOC130057930, LOC130057931, LOC130057932, LOC130057933, LOC130057934, LOC130057935, LOC130057936, LOC130057937, LOC130057938, LOC130057939, LOC130057940, LOC130057941, LOC130057942, LOC130057943, LOC130057944, LOC130057945, LOC130057946, LOC130057947, LOC130057948, LOC130057949, LOC130057950, LOC130057951, LOC130057952, LOC130057953, LOC130057954, LOC130057955, LOC130057956, LOC130057957, LOC130057958, LOC130057959, LOC130057960, LOC130057961, LOC130057962, LOC130057963, LOC130057964, LOC130057965, LOC130057966, LOC130057967, LOC130057968, LOC130057969, LOC130057970, LOC130057971, LOC130057972, LOC130057973, LOC130057974, LOC130057975, LOC130057976, LOC130057977, LOC130057978, LOC130057979, LOC130057980, LOC130057981, LOC130057982, LOC130057983, LOC130057984, LOC130057985, LOC130057986, LOC130057987, LOC130057988, LOC130057989, LOC130057990, LOC130057991, LOC130057992, LOC130057993, LOC130057994, LOC130057995, LOC130057996, LOC130057997, LOC130057998, LOC130057999, LOC130058000, LOC130058001, LOC130058002, LOC130058003, LOC130058004, LOC130058005, LOC130058006, LOC130058007, LOC130058008, LOC130058009, LOC130058010, LOC130058011, LOC130058012, LOC130058013, LOC130058014, LOC130058015, LOC130058016, LOC130058017, LOC130058018, LOC130058019, LOC130058020, LOC130058021, LOC130058022, LOC130058023, LOC130058024, LOC130058025, LOC130058026, LOC130058027, LOC130058028, LOC130058029, LOC130058030, LOC130058031, LOC130058032, LOC130058033, LOC130058034, LOC130058035, LOC130058036, LOC130058037, LOC130058038, LOC130058039, LOC130058040, LOC130058041, LOC130058042, LOC130058043, LOC130058044, LOC130058045, LOC130058046, LOC130058047, LOC130058048, LOC130058049, LOC130058050, LOC130058051, LOC130058052, LOC130058053, LOC130058054, LOC130058055, LOC130058056, LOC130058057, LOC130058058, LOC130058059, LOC130058060, LOC130058061, LOC130058062, LOC130058063, LOC130058064, LOC130058065, LOC130058066, LOC130058067, LOC130058068, LOC130058069, LOC130058070, LOC130058071, LOC130058072, LOC130058073, LOC130058074, LOC130058075, LOC130058076, LOC130058077, LOC130058078, LOC130058079, LOC130058080, LOC130058081, LOC130058082, LOC132090330, LOC132090331, LOC132090332, LOC132090333, LOC132090334, LOC132090335, LOC132090336, LOC132090337, LOC132090338, LOC132090339, LOC132090340, LOC132090341, LOC132090342, LOC132090343, LOC132090344, LOC132090345, LOC132090346, LOC132090347, LOC132090348, LOC132090349, LOC132090350, LOC132090351, LOC132090352, LOC132090353, LOC132090354, LOC132090355, LOC132090356, LOC132090357, LOC132090358, LOC132090359, LOC132090360, LOC132090361, LOC132090362, LOC132090363, LOC132090364, LOC132090365, LOC132090366, LOC132090367, LOC132090368, LOC132090369, LOC132090883, LOC132090884, LOC132090885, LOC132090886, LOC283731, LOC91450, LOXL1, LOXL1-AS1, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MAN2C1, MCTP2, MEF2A, MESD, MESP1, MESP2, MEX3B, MFGE8, MINAR1, MIR11181, MIR1179, MIR12135, MIR1276, MIR1469, MIR184, MIR3174, MIR3175, MIR3529, MIR3713, MIR4313, MIR4513, MIR4514, MIR4515, MIR4714, MIR5009, MIR5094, MIR548AP, MIR549A, MIR5572, MIR630, MIR631, MIR6766, MIR6881, MIR6882, MIR7-2, MIR7706, MIR9-3, MIR9-3HG, MORF4L1, MPI, MRPL46, MRPS11, MTHFS, NEIL1, NEO1, NGRN, NMB, NPTN, NPTN-IT1, NR2F2, NR2F2-AS1, NRG4, NTRK3, NTRK3-AS1, OR4F15, OR4F6, PARP6, PCSK6, PCSK6-AS1, PDE8A, PEAK1, PEX11A, PGPEP1L, PIRC76, PKM, PLIN1, PML, POLG, POLG-DT, POLGARF, PPCDC, PRC1, PRC1-AS1, PSMA4, PSTPIP1, LINC00933, LINC01418, LINC01579, LINC01580, LINC01581, LINC01582, LINC01583, LINC01584, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02255, LINC02259, LINC02348, LINC02351, LINC02883, LINGO1, LINGO1-AS1, LINGO1-AS2, LINS1, LMAN1L, LOC100129540, LOC100507472, LOC101927310, LOC101929439, LOC101929457, LOC101929586, LOC102723335, LOC102724034, LOC102724452, LOC102724465, LOC103171574, LOC104613533, LOC105369212, LOC105370890, LOC105370947, LOC105370954, LOC105370973, LOC105370980, LOC105370987, LOC105370993, LOC105370997, LOC105371006, LOC105371017, LOC105371031, LOC108251791, LOC108281191, LOC108964933, LOC110121345, LOC110121383, LOC110121430, LOC110121464, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC111413032, LOC111718493, LOC111822949, LOC112272574, LOC112272613, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC112272621, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC113939947, LOC114827858, LOC116268468, LOC116268471, LOC116268472, LOC116268473, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC120285840, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121530595, LOC121530596, LOC121530597, LOC121530598, LOC121530599, LOC121530600, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847956, LOC121847957, LOC121847958, LOC121847959, LOC121847960, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125110357, LOC125138289, LOC125138290, LOC125138291, LOC125138292, LOC125138293, LOC125138294, LOC125138295, LOC125138296, LOC125138297, LOC125138298, LOC125138299, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC126862183, LOC126862184, LOC126862185, LOC126862186, LOC126862187, LOC126862188, LOC126862189, LOC126862190, LOC126862191, LOC126862192, LOC126862193, LOC126862194, LOC126862195, LOC126862196, LOC126862197, LOC126862198, LOC126862199, LOC126862200, LOC126862201, LOC126862202, LOC126862203, LOC126862204, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LOC128071545, LOC129390717, LOC129390718, LOC129390719, LOC129390720, LOC129390721, LOC129390722, LOC129390723, LOC129390724, LOC129390725, LOC129390726, LOC129390727, LOC129390728, LOC129390729, LOC129390730, LOC129390731, LOC129390732, LOC129390733, LOC129390734, LOC129390735, LOC129390736, LOC129390737, LOC129390738, LOC129390739, LOC129390740, LOC129390741, LOC129390742, LOC129390743, LOC129390744, LOC129390745, LOC129390746, LOC129390747, LOC129390748, LOC129390749, LOC129390750, LOC129390751, LOC129390752, LOC130057463, LOC130057464, LOC130057465, LOC130057466, LOC130057467, LOC130057468, LOC130057469, LOC130057470, LOC130057471, LOC130057472, LOC130057473, LOC130057474, LOC130057475, LOC130057476, LOC130057477, LOC130057478, LOC130057479, LOC130057480, LOC130057481, LOC130057482, LOC130057483, LOC130057484, LOC130057485, LOC130057486, LOC130057487, LOC130057488, LOC130057489, LOC130057490, LOC130057491, LOC130057492, LOC130057493, LOC130057494, LOC130057495, LOC130057496, LOC130057497, LOC130057498, LOC130057499, LOC130057500, LOC130057501, LOC130057502, LOC130057503, LOC130057504, LOC130057505, LOC130057506, LOC130057507, LOC130057508, LOC130057509, LOC130057510, LOC130057511, LOC130057512, LOC130057513, LOC130057514, LOC130057515, LOC130057516, LOC130057517, LOC130057518, LOC130057519, LOC130057520, LOC130057521, LOC130057522, LOC130057523, LOC130057524, LOC130057525, LOC130057526, LOC130057527, LOC130057528, LOC130057529, LOC130057530, LOC130057531, LOC130057532, LOC130057533, LOC130057534, LOC130057535, LOC130057536, LOC130057537, LOC130057538, LOC130057539, LOC130057540, LOC130057541, LOC130057542, LOC130057543, LOC130057544, LOC130057545, LOC130057546, LOC130057547, LOC130057548, LOC130057549, LOC130057550, LOC130057551, LOC130057552, LOC130057553, LOC130057554, LOC130057555, LOC130057556, LOC130057557, LOC130057558, LOC130057559, LOC130057560, LOC130057561, LOC130057562, LOC130057563, LOC130057564, LOC130057565, LOC130057566, LOC130057567, LOC130057568, LOC130057569, LOC130057570, LOC130057571, LOC130057572, LOC130057573, LOC130057574, LOC130057575, LOC130057576, LOC130057577, LOC130057578, LOC130057579, LOC130057580, LOC130057581, LOC130057582, LOC130057583, LOC130057584, LOC130057585, LOC130057586, LOC130057587, LOC130057588, LOC130057589, LOC130057590, LOC130057591, LOC130057592, LOC130057593, LOC130057594, LOC130057595, LOC130057596, LOC130057597, LOC130057598, LOC130057599, LOC130057600, LOC130057601, LOC130057602, LOC130057603, LOC130057604, LOC130057605, LOC130057606, LOC130057607, LOC130057608, LOC130057609, LOC130057610, LOC130057611, LOC130057612, LOC130057613, LOC130057614, LOC130057615, LOC130057616, LOC130057617, LOC130057618, LOC130057619, LOC130057620, LOC130057621, LOC130057622, LOC130057623, LOC130057624, LOC130057625, LOC130057626, LOC130057627, LOC130057628, LOC130057629, LOC130057630, LOC130057631, LOC130057632, LOC130057633, LOC130057634, LOC130057635, LOC130057636, LOC130057637, LOC130057638, LOC130057639, LOC130057640, LOC130057641, LOC130057642, LOC130057643, LOC130057644, LOC130057645, LOC130057646, LOC130057647, LOC130057648, LOC130057649, LOC130057650, LOC130057651, LOC130057652, LOC130057653, LOC130057654, LOC130057655, LOC130057656, LOC130057657, LOC130057658, LOC130057659, LOC130057660, LOC130057661, LOC130057662, LOC130057663, LOC130057664, LOC130057665, LOC130057666, LOC130057667, LOC130057668, LOC130057669, LOC130057670, LOC130057671, LOC130057672, LOC130057673, LOC130057674, LOC130057675, LOC130057676, LOC130057677, LOC130057678, LOC130057679, LOC130057680, LOC130057681, LOC130057682, LOC130057683, LOC130057684, LOC130057685, LOC130057686, LOC130057687, LOC130057688, LOC130057689, LOC130057690, LOC130057691, LOC130057692, LOC130057693, LOC130057694, LOC130057695, LOC130057696
See casesPathogenic
(Sep 10, 2012)		no assertion criteria provided
3.
GRCh38:
Chr15:82130136-82727529
LOC130057765, LOC130057770, LOC130057771, LOC130057766, LOC130057772, LOC130057773, LOC130057767, LOC130057768, LOC130057769, AP3B2, CPEB1, CPEB1-AS1, EFL1, GOLGA6L10, GOLGA6L9, LOC102724034, LOC113939947, LOC129390726, LOC130057764, RPS17, SAXO2
Diamond-Blackfan anemia 4Pathogenic
(Aug 24, 2023)		criteria provided, single submitter
4.
GRCh37:
Chr15:83214012-84789834
GRCh38:
Chr15:82558402-84121082
LOC130057773, LOC130057774, LOC130057775, LOC130057776, LOC130057777, LOC130057778, LOC130057779, LOC130057780, LOC130057781, LOC130057782, LOC130057783, LOC130057784, LOC130057785, LOC130057786, LOC130057787, LOC130057788, LOC130057789, LOC130057790, LOC130057791, LOC130057792, LOC130057793, LOC130057794, LOC130057795, LOC130057796, LOC130057797, LOC130057798, LOC132090338, LOC132090339, LOC132090340, LOC132090341, LOC132090342, LOC132090343, LOC132090344, LOC132090345, LOC132090346, LOC132090347, LOC132090348, LOC132090349, LOC132090350, LOC132090351, LOC132090352, LOC132090884, MIR4515, RAMAC, SCARNA15, SH3GL3, SNHG21, TM6SF1, WHAMM, ADAMTSL3, AP3B2, BNC1, BTBD1, C15orf40, CPEB1, CPEB1-AS1, FSD2, HDGFL3, HOMER2, LOC113939947, LOC121530600, LOC125138299, LOC126862198, LOC126862199, LOC126862200, LOC126862201, LOC126862202, LOC126862203, LOC126862204, LOC129390727, LOC129390728, LOC130057770, LOC130057771, LOC130057772
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
5.
GRCh37:
Chr15:83229665-85728844
GRCh38:
Chr15:82560915-85185613
ADAMTSL3, ALPK3, AP3B2, BNC1, BTBD1, C15orf40, CPEB1, CPEB1-AS1, FSD2, GOLGA6L4, HDGFL3, HOMER2, LINC00933, LOC103171574, LOC105370947, LOC111718493, LOC113939947, LOC121530600, LOC125138299, LOC125138300, LOC126862198, LOC126862199, LOC126862200, LOC126862201, LOC126862202, LOC126862203, LOC126862204, LOC129390727, LOC129390728, LOC130057770, LOC130057771, LOC130057772, LOC130057773, LOC130057774, LOC130057775, LOC130057776, LOC130057777, LOC130057778, LOC130057779, LOC130057780, LOC130057781, LOC130057782, LOC130057783, LOC130057784, LOC130057785, LOC130057786, LOC130057787, LOC130057788, LOC130057789, LOC130057790, LOC130057791, LOC130057792, LOC130057793, LOC130057794, LOC130057795, LOC130057796, LOC130057797, LOC130057798, LOC130057799, LOC130057800, LOC130057801, LOC130057802, LOC130057803, LOC130057804, LOC130057805, LOC130057806, LOC130057807, LOC130057808, LOC130057809, LOC130057810, LOC130057811, LOC130057812, LOC130057813, LOC130057814, LOC130057815, LOC130057816, LOC130057817, LOC130057818, LOC130057819, LOC130057820, LOC130057821, LOC130057822, LOC130057823, LOC130057824, LOC130057825, LOC132090338, LOC132090339, LOC132090340, LOC132090341, LOC132090342, LOC132090343, LOC132090344, LOC132090345, LOC132090346, LOC132090347, LOC132090348, LOC132090349, LOC132090350, LOC132090351, LOC132090352, LOC132090353, LOC132090354, LOC132090355, LOC132090356, LOC132090357, LOC132090884, LOC132090885, MIR4515, NMB, PDE8A, RAMAC, SCARNA15, SEC11A, SH3GL3, SLC28A1, SNHG21, TM6SF1, WDR73, WHAMM, ZNF592, ZSCAN2
See casesLikely pathogenic
(Feb 14, 2018)		no assertion criteria provided
6.
GRCh37:
Chr15:83083418-85786847
GRCh38:
Chr15:82627214-85243616
ADAMTSL3, ALPK3, AP3B2, BNC1, BTBD1, C15orf40, CPEB1, CPEB1-AS1, FSD2, GOLGA6L4, HDGFL3, HOMER2, LINC00933, LOC103171574, LOC105370947, LOC111718493, LOC113939947, LOC121530600, LOC125138299, LOC125138300, LOC126862198, LOC126862199, LOC126862200, LOC126862201, LOC126862202, LOC126862203, LOC126862204, LOC129390727, LOC129390728, LOC130057770, LOC130057771, LOC130057772, LOC130057773, LOC130057774, LOC130057775, LOC130057776, LOC130057777, LOC130057778, LOC130057779, LOC130057780, LOC130057781, LOC130057782, LOC130057783, LOC130057784, LOC130057785, LOC130057786, LOC130057787, LOC130057788, LOC130057789, LOC130057790, LOC130057791, LOC130057792, LOC130057793, LOC130057794, LOC130057795, LOC130057796, LOC130057797, LOC130057798, LOC130057799, LOC130057800, LOC130057801, LOC130057802, LOC130057803, LOC130057804, LOC130057805, LOC130057806, LOC130057807, LOC130057808, LOC130057809, LOC130057810, LOC130057811, LOC130057812, LOC130057813, LOC130057814, LOC130057815, LOC130057816, LOC130057817, LOC130057818, LOC130057819, LOC130057820, LOC130057821, LOC130057822, LOC130057823, LOC130057824, LOC130057825, LOC132090338, LOC132090339, LOC132090340, LOC132090341, LOC132090342, LOC132090343, LOC132090344, LOC132090345, LOC132090346, LOC132090347, LOC132090348, LOC132090349, LOC132090350, LOC132090351, LOC132090352, LOC132090353, LOC132090354, LOC132090355, LOC132090356, LOC132090357, LOC132090884, LOC132090885, MIR4515, NMB, PDE8A, RAMAC, SCARNA15, SEC11A, SH3GL3, SLC28A1, SNHG21, TM6SF1, WDR73, WHAMM, ZNF592, ZSCAN2
See casesLikely pathogenic
(Mar 26, 2013)		no assertion criteria provided
7.
GRCh37:
Chr15:83328218
GRCh38:
Chr15:82659466
AP3B2, CPEB1-AS1not providedUncertain significance
(Dec 1, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr15:83328319
GRCh38:
Chr15:82659567
AP3B2, CPEB1-AS1T1049S, T1081S, T1100S, T144Snot providedUncertain significance
(Jul 21, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr15:83328319
GRCh38:
Chr15:82659567
AP3B2, CPEB1-AS1T1049I, T144I, T1081I, T1100Inot provided, Inborn genetic diseasesUncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr15:83328325
GRCh38:
Chr15:82659573
AP3B2, CPEB1-AS1A1098D, A1047D, A1079D, A142DDevelopmental and epileptic encephalopathy, 48, not providedUncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr15:83328331
GRCh38:
Chr15:82659579
AP3B2, CPEB1-AS1I1096T, I140T, I1077T, I1045Tnot providedUncertain significance
(Jun 3, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr15:83328335
GRCh38:
Chr15:82659583
AP3B2, CPEB1-AS1V1076L, V139L, V1044L, V1095Lnot providedUncertain significance
(Jan 2, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr15:83328338
GRCh38:
Chr15:82659586
AP3B2, CPEB1-AS1D138fs, D1094fs, D1043fs, D1075fsnot providedUncertain significance
(Aug 12, 2021)		criteria provided, single submitter
14.
GRCh37:
Chr15:83328345
GRCh38:
Chr15:82659593
AP3B2, CPEB1-AS1not providedLikely benign
(Sep 10, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr15:83328345
GRCh38:
Chr15:82659593
AP3B2, CPEB1-AS1not providedLikely benign
(Dec 22, 2021)		criteria provided, single submitter
16.
GRCh37:
Chr15:83328351
GRCh38:
Chr15:82659599
AP3B2, CPEB1-AS1not providedLikely benign
(Oct 13, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr15:83328351
GRCh38:
Chr15:82659599
AP3B2, CPEB1-AS1not providedLikely benign
(Jul 25, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr15:83328354
GRCh38:
Chr15:82659602
AP3B2, CPEB1-AS1not providedLikely benign
(Apr 12, 2022)		criteria provided, single submitter
19.
GRCh37:
Chr15:83328364
GRCh38:
Chr15:82659612
CPEB1-AS1, AP3B2M129T, M1085T, M1034T, M1066Tnot providedUncertain significance
(Apr 15, 2022)		criteria provided, single submitter
20.
GRCh37:
Chr15:83328371
GRCh38:
Chr15:82659619
AP3B2, CPEB1-AS1E1064K, E127K, E1083K, E1032Knot providedUncertain significance
(Jun 30, 2022)		criteria provided, single submitter
21.
GRCh37:
Chr15:83328372
GRCh38:
Chr15:82659620
AP3B2, CPEB1-AS1not providedLikely benign
(Jul 19, 2022)		criteria provided, single submitter
22.
GRCh37:
Chr15:83328376
GRCh38:
Chr15:82659624
AP3B2, CPEB1-AS1N1030S, N125S, N1062S, N1081Snot providedUncertain significance
(Aug 26, 2021)		criteria provided, single submitter
23.
GRCh37:
Chr15:83328378
GRCh38:
Chr15:82659626
AP3B2, CPEB1-AS1not providedLikely benign
(Jan 3, 2022)		criteria provided, single submitter
24.
GRCh37:
Chr15:83328380-83328383
GRCh38:
Chr15:82659628-82659631
AP3B2, CPEB1-AS1T1060fs, T123fs, T1028fs, T1079fsnot providedPathogenic/Likely pathogenic
(Oct 30, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr15:83328387
GRCh38:
Chr15:82659635
AP3B2, CPEB1-AS1not providedLikely benign
(Apr 5, 2022)		criteria provided, single submitter
26.
GRCh37:
Chr15:83328388
GRCh38:
Chr15:82659636
AP3B2, CPEB1-AS1Q1058R, Q121R, Q1026R, Q1077Rnot providedUncertain significance
(Oct 17, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr15:83328388-83328392
GRCh38:
Chr15:82659636-82659640
AP3B2, CPEB1-AS1not providedUncertain significance
(Oct 7, 2019)		criteria provided, single submitter
28.
GRCh37:
Chr15:83328392
GRCh38:
Chr15:82659640
AP3B2, CPEB1-AS1A1076P, A120P, A1025P, A1057Pnot providedUncertain significance
(Oct 17, 2022)		criteria provided, single submitter
29.
GRCh37:
Chr15:83328399
GRCh38:
Chr15:82659647
AP3B2, CPEB1-AS1not providedLikely benign
(Oct 30, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr15:83328406
GRCh38:
Chr15:82659654
AP3B2, CPEB1-AS1R1071Q, R1052Q, R115Q, R1020QInborn genetic diseases, not providedUncertain significance
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr15:83328407
GRCh38:
Chr15:82659655
CPEB1-AS1, AP3B2R1020W, R1052W, R1071W, R115Wnot providedLikely benign
(Oct 18, 2022)		criteria provided, single submitter
32.
GRCh37:
Chr15:83328409
GRCh38:
Chr15:82659657
AP3B2, CPEB1-AS1A1019V, A1051V, A1070V, A114Vnot providedUncertain significance
(Sep 13, 2022)		criteria provided, single submitter
33.
GRCh37:
Chr15:83328425
GRCh38:
Chr15:82659673
AP3B2, CPEB1-AS1not providedLikely benign
(Feb 3, 2021)		criteria provided, single submitter
34.
GRCh37:
Chr15:83328428
GRCh38:
Chr15:82659676
AP3B2, CPEB1-AS1V1013I, V1064I, V1045I, V108Inot providedUncertain significance
(Feb 20, 2022)		criteria provided, single submitter
35.
GRCh37:
Chr15:83328431
GRCh38:
Chr15:82659679
CPEB1-AS1, AP3B2L1044I, L1063I, L107I, L1012IInborn genetic diseasesUncertain significance
(Feb 26, 2021)		criteria provided, single submitter
36.
GRCh37:
Chr15:83328437
GRCh38:
Chr15:82659685
CPEB1-AS1, AP3B2G1042R, G1010R, G105R, G1061RInborn genetic diseasesUncertain significance
(Apr 7, 2022)		criteria provided, single submitter
37.
GRCh37:
Chr15:83328439
GRCh38:
Chr15:82659687
CPEB1-AS1, AP3B2G1009D, G1060D, G1041D, G104Dnot providedUncertain significance
(Jun 14, 2022)		criteria provided, single submitter
38.
GRCh37:
Chr15:83328443
GRCh38:
Chr15:82659691
AP3B2, CPEB1-AS1T1059A, T1008A, T1040A, T103Anot providedUncertain significance
(Aug 2, 2022)		criteria provided, single submitter
39.
GRCh37:
Chr15:83328449
GRCh38:
Chr15:82659697
AP3B2, CPEB1-AS1T1038A, T1006A, T101A, T1057AInborn genetic diseasesUncertain significance
(Nov 10, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr15:83328460
GRCh38:
Chr15:82659708
AP3B2, CPEB1-AS1F1053S, F97S, F1034S, F1002Snot providedUncertain significance
(Mar 11, 2022)		criteria provided, single submitter
41.
GRCh37:
Chr15:83328473
GRCh38:
Chr15:82659721
AP3B2, CPEB1-AS1not providedLikely benign
(Jun 13, 2021)		criteria provided, single submitter
42.
GRCh37:
Chr15:83328583
GRCh38:
Chr15:82659831
AP3B2, CPEB1-AS1not providedLikely benign
(Sep 1, 2022)		criteria provided, single submitter
43.
GRCh37:
Chr15:83328585
GRCh38:
Chr15:82659833
AP3B2, CPEB1-AS1not providedLikely benign
(Sep 1, 2022)		criteria provided, single submitter
44.
GRCh37:
Chr15:83328587
GRCh38:
Chr15:82659835
AP3B2, CPEB1-AS1not provided, Developmental and epileptic encephalopathy, 48Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr15:83328588
GRCh38:
Chr15:82659836
CPEB1-AS1, AP3B2not providedLikely benign
(Sep 24, 2022)		criteria provided, single submitter
46.
GRCh37:
Chr15:83328589
GRCh38:
Chr15:82659837
AP3B2, CPEB1-AS1not providedLikely benign
(May 5, 2022)		criteria provided, single submitter
47.
GRCh37:
Chr15:83328601
GRCh38:
Chr15:82659849
CPEB1-AS1, AP3B2Y1032H, Y1000H, Y1051H, Y95Hnot providedUncertain significance
(Mar 4, 2022)		criteria provided, single submitter
48.
GRCh37:
Chr15:83328607
GRCh38:
Chr15:82659855
AP3B2, CPEB1-AS1D1030N, D93N, D998N, D1049Nnot providedUncertain significance
(Aug 16, 2022)		criteria provided, single submitter
49.
GRCh37:
Chr15:83328609
GRCh38:
Chr15:82659857
AP3B2, CPEB1-AS1S92Y, S1029Y, S1048Y, S997Ynot provided, Developmental and epileptic encephalopathy, 48Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
50.
GRCh37:
Chr15:83328614
GRCh38:
Chr15:82659862
AP3B2, CPEB1-AS1not providedLikely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr15:83328620
GRCh38:
Chr15:82659868
CPEB1-AS1, AP3B2not providedLikely benign
(Jul 18, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr15:83328626
GRCh38:
Chr15:82659874
CPEB1-AS1, AP3B2not providedLikely benign
(Sep 27, 2022)		criteria provided, single submitter
53.
GRCh37:
Chr15:83328627
GRCh38:
Chr15:82659875
AP3B2, CPEB1-AS1R1023H, R1042H, R86H, R991HInborn genetic diseases, not providedUncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr15:83328628
GRCh38:
Chr15:82659876
AP3B2, CPEB1-AS1R1023S, R1042S, R86S, R991Snot providedLikely benign
(Sep 23, 2022)		criteria provided, single submitter
55.
GRCh37:
Chr15:83328628
GRCh38:
Chr15:82659876
CPEB1-AS1, AP3B2R86C, R991C, R1042C, R1023Cnot providedUncertain significance
(Feb 5, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr15:83328635-83328636
GRCh38:
Chr15:82659883-82659884
CPEB1-AS1, AP3B2N1020fs, N988fs, N83fs, N1039fsnot providedPathogenic
(Aug 29, 2022)		criteria provided, single submitter
57.
GRCh37:
Chr15:83328638
GRCh38:
Chr15:82659886
CPEB1-AS1, AP3B2not providedLikely benign
(Dec 8, 2020)		criteria provided, single submitter
58.
GRCh37:
Chr15:83328662
GRCh38:
Chr15:82659910
CPEB1-AS1, AP3B2not providedLikely benign
(Sep 1, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr15:83328668-83328670
GRCh38:
Chr15:82659916-82659918
AP3B2, CPEB1-AS1H1009del, H977del, H72del, H1028delnot providedUncertain significance
(Oct 24, 2022)		criteria provided, single submitter
60.
GRCh37:
Chr15:83328678
GRCh38:
Chr15:82659926
AP3B2, CPEB1-AS1R1006Q, R1025Q, R69Q, R974Qnot providedUncertain significance
(Oct 18, 2022)		criteria provided, single submitter
61.
GRCh37:
Chr15:83328679
GRCh38:
Chr15:82659927
AP3B2, CPEB1-AS1R1025W, R69W, R974W, R1006Wnot providedUncertain significance
(Jul 19, 2022)		criteria provided, single submitter
62.
GRCh37:
Chr15:83328696
GRCh38:
Chr15:82659944
CPEB1-AS1, AP3B2M1000T, M1019T, M63T, M968Tnot providedUncertain significance
(Feb 2, 2022)		criteria provided, single submitter
63.
GRCh37:
Chr15:83328702
GRCh38:
Chr15:82659950
AP3B2, CPEB1-AS1K61R, K966R, K1017R, K998RMicrocephalyUncertain significanceno assertion criteria provided
64.
GRCh37:
Chr15:83328708
GRCh38:
Chr15:82659956
AP3B2, CPEB1-AS1T59R, T996R, T1015R, T964Rnot providedUncertain significance
(Aug 29, 2021)		criteria provided, single submitter
65.
GRCh37:
Chr15:83328722
GRCh38:
Chr15:82659970
AP3B2, CPEB1-AS1not providedLikely benign
(Aug 24, 2022)		criteria provided, single submitter
66.
GRCh37:
Chr15:83328742-83328743
GRCh38:
Chr15:82659990-82659991
AP3B2, CPEB1-AS1not providedLikely benign
(Aug 15, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr15:83328748-83328750
GRCh38:
Chr15:82659996-82659998
CPEB1-AS1, AP3B2not providedLikely benign
(Aug 2, 2022)		criteria provided, single submitter
68.
GRCh37:
Chr15:83328750
GRCh38:
Chr15:82659998
CPEB1-AS1, AP3B2not providedLikely benign
(Aug 23, 2022)		criteria provided, single submitter
69.
GRCh37:
Chr15:83328751
GRCh38:
Chr15:82659999
AP3B2, CPEB1-AS1not providedUncertain significance
(Jul 29, 2022)		criteria provided, single submitter
70.
GRCh37:
Chr15:83328751
GRCh38:
Chr15:82659999
CPEB1-AS1, AP3B2not providedLikely benign
(Oct 3, 2022)		criteria provided, single submitter
71.
GRCh37:
Chr15:83330560
GRCh38:
Chr15:82661808
AP3B2, CPEB1-AS1not providedLikely benign
(Jul 19, 2022)		criteria provided, single submitter
72.
GRCh37:
Chr15:83330562
GRCh38:
Chr15:82661810
CPEB1-AS1, AP3B2not providedLikely benign
(Sep 18, 2022)		criteria provided, single submitter
73.
GRCh37:
Chr15:83330562
GRCh38:
Chr15:82661810
AP3B2, CPEB1-AS1not providedLikely benign
(Mar 14, 2022)		criteria provided, single submitter
74.
GRCh37:
Chr15:83330569
GRCh38:
Chr15:82661817
AP3B2, CPEB1-AS1not providedLikely benign
(Oct 17, 2022)		criteria provided, single submitter
75.
GRCh37:
Chr15:83330571-83330572
GRCh38:
Chr15:82661819-82661820
AP3B2, CPEB1-AS1not providedUncertain significance
(Feb 27, 2022)		criteria provided, single submitter
76.
GRCh37:
Chr15:83330578
GRCh38:
Chr15:82661826
AP3B2, CPEB1-AS1not providedConflicting interpretations of pathogenicity
(Aug 2, 2022)		criteria provided, conflicting interpretations
77.
GRCh37:
Chr15:83330584-83330586
GRCh38:
Chr15:82661832-82661834
AP3B2, CPEB1-AS1K952del, K984del, K1003del, K47delnot providedUncertain significance
(Aug 26, 2021)		criteria provided, single submitter
78.
GRCh37:
Chr15:83330584
GRCh38:
Chr15:82661832
AP3B2, CPEB1-AS1not providedBenign/Likely benign
(Oct 1, 2023)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr15:83330603
GRCh38:
Chr15:82661851
AP3B2, CPEB1-AS1S997T, S41T, S978T, S946Tnot provided, Inborn genetic diseasesUncertain significance
(Apr 25, 2023)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr15:83330605
GRCh38:
Chr15:82661853
CPEB1-AS1, AP3B2M40I, M945I, M977I, M996Inot providedLikely benign
(Oct 17, 2022)		criteria provided, single submitter
81.
GRCh37:
Chr15:83330607
GRCh38:
Chr15:82661855
AP3B2, CPEB1-AS1M40V, M945V, M977V, M996Vnot providedUncertain significance
(Jan 14, 2022)		criteria provided, single submitter
82.
GRCh37:
Chr15:83330614-83330615
GRCh38:
Chr15:82661862-82661863
AP3B2, CPEB1-AS1P37fs, P942fs, P974fs, P993fsnot provided, Developmental and epileptic encephalopathy, 48Pathogenic/Likely pathogenic
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr15:83330620
GRCh38:
Chr15:82661868
AP3B2, CPEB1-AS1M35I, M991I, M972I, M940IInborn genetic diseasesUncertain significance
(Mar 31, 2023)		criteria provided, single submitter
84.
GRCh37:
Chr15:83330621
GRCh38:
Chr15:82661869
AP3B2, CPEB1-AS1M35T, M940T, M972T, M991Tnot providedUncertain significance
(Jul 19, 2022)		criteria provided, single submitter
85.
GRCh37:
Chr15:83330625
GRCh38:
Chr15:82661873
AP3B2, CPEB1-AS1not providedLikely benign
(Jan 14, 2022)		criteria provided, single submitter
86.
GRCh37:
Chr15:83330633
GRCh38:
Chr15:82661881
AP3B2, CPEB1-AS1V31A, V936A, V968A, V987Anot providedUncertain significance
(Apr 19, 2022)		criteria provided, single submitter
87.
GRCh37:
Chr15:83330634
GRCh38:
Chr15:82661882
AP3B2, CPEB1-AS1V31I, V936I, V968I, V987Inot providedUncertain significance
(Dec 8, 2021)		criteria provided, single submitter
88.
GRCh37:
Chr15:83330636
GRCh38:
Chr15:82661884
AP3B2, CPEB1-AS1P986R, P967R, P30R, P935Rnot providedUncertain significance
(Aug 14, 2021)		criteria provided, single submitter
89.
GRCh37:
Chr15:83330646
GRCh38:
Chr15:82661894
AP3B2, CPEB1-AS1I27L, I983L, I964L, I932LInborn genetic diseasesUncertain significance
(Feb 10, 2022)		criteria provided, single submitter
90.
GRCh37:
Chr15:83330652
GRCh38:
Chr15:82661900
CPEB1-AS1, AP3B2V25I, V981I, V930I, V962IInborn genetic diseases, not providedUncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr15:83330653
GRCh38:
Chr15:82661901
AP3B2, CPEB1-AS1not providedLikely benign
(Sep 28, 2022)		criteria provided, single submitter
92.
GRCh37:
Chr15:83330661
GRCh38:
Chr15:82661909
AP3B2, CPEB1-AS1Q22E, Q978E, Q927E, Q959Enot providedUncertain significance
(Sep 17, 2021)		criteria provided, single submitter
93.
GRCh37:
Chr15:83330663
GRCh38:
Chr15:82661911
AP3B2, CPEB1-AS1R21Q, R926Q, R958Q, R977Qnot provided, Developmental and epileptic encephalopathy, 48Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr15:83330664
GRCh38:
Chr15:82661912
AP3B2, CPEB1-AS1R21*, R926*, R958*, R977*Developmental and epileptic encephalopathy, 48Pathogenic
(Nov 3, 2022)		criteria provided, single submitter
95.
GRCh37:
Chr15:83330665
GRCh38:
Chr15:82661913
AP3B2, CPEB1-AS1not providedLikely benign
(Feb 20, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr15:83330666
GRCh38:
Chr15:82661914
AP3B2, CPEB1-AS1T20I, T925I, T957I, T976Inot providedUncertain significance
(Jul 26, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr15:83330670
GRCh38:
Chr15:82661918
CPEB1-AS1, AP3B2Q19E, Q956E, Q924E, Q975Enot providedUncertain significance
(Jul 23, 2022)		criteria provided, single submitter
98.
GRCh37:
Chr15:83330672
GRCh38:
Chr15:82661920
AP3B2, CPEB1-AS1T18I, T923I, T955I, T974Inot providedUncertain significance
(Aug 21, 2022)		criteria provided, single submitter
99.
GRCh37:
Chr15:83330684
GRCh38:
Chr15:82661932
AP3B2, CPEB1-AS1not providedBenign
(Aug 10, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr15:83330689
GRCh38:
Chr15:82661937
AP3B2, CPEB1-AS1not providedLikely benign
(Aug 22, 2022)		criteria provided, single submitter
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