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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:
Chr15:69122913-74115678
GRCh38:
Chr15:68830574-73823337
ADPGK, ADPGK-AS1, ARIH1, BBS4, CD276, CELF6, CT62, DRAIC, EWSAT1, GLCE, GOLGA6B, GRAMD2A, HCN4, HEXA, HEXA-AS1, HIGD2B, INSYN1, INSYN1-AS1, KIF23, KIF23-AS1, LARP6, LINC00593, LINC02204, LINC02205, LINC02259, LOC105370890, LOC110120861, LOC110121492, LOC111562369, LOC112272608, LOC112272609, LOC112272610, LOC112272613, LOC112272614, LOC116268468, LOC121530588, LOC121530589, LOC121530590, LOC121847956, LOC125110352, LOC125110353, LOC125110354, LOC125110355, LOC125110356, LOC125110357, LOC126862164, LOC126862165, LOC126862166, LOC126862167, LOC126862168, LOC126862169, LOC126862170, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC129390716, LOC129390717, LOC129390718, LOC129390719, LOC129390720, 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, LOC132090329, LOC132090882, LRRC49, MIR12135, MIR629, MIR630, MYO9A, NEO1, NOX5, NPTN, NPTN-IT1, NR2E3, PAQR5, PAQR5-DT, PARP6, PCAT29, PKM, REC114, RPLP1, SALRNA2, SALRNA3, SENP8, SPESP1, THAP10, THSD4, THSD4-AS1, THSD4-AS2, TLE3, TMEM202, TMEM202-AS1, UACA
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr15:70317639-78998335
GRCh38:
Chr15:70025300-78705993
LOC121530589, LOC121530590, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121530595, LOC121530596, LOC121847956, LOC121847957, LOC121847958, LOC121847959, LOC121847960, LOC125110353, LOC125110354, LOC125110355, LOC125110356, LOC125110357, LOC125138289, LOC125138290, LOC125138291, LOC125138292, LOC126862167, LOC126862168, LOC126862169, LOC126862170, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC126862183, LOC126862184, LOC126862185, LOC126862186, LOC129390717, LOC129390718, LOC129390719, LOC129390720, LOC129390721, LOC129390722, LOC129390723, LOC129390724, 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, LOC132090330, LOC132090331, LOC283731, LOC91450, LOXL1, LOXL1-AS1, LRRC49, MAN2C1, MIR12135, MIR3713, MIR4313, MIR4513, MIR629, MIR630, MIR631, MIR6881, MIR6882, MPI, MYO9A, NEIL1, NEO1, NPTN, NPTN-IT1, NR2E3, NRG4, PARP6, PEAK1, PKM, PML, PPCDC, PSMA4, PSTPIP1, PTPN9, RCN2, REC114, RPP25, SALRNA2, SALRNA3, SCAMP2, SCAMP5, SCAPER, SEMA7A, SENP8, SH2D7, SIN3A, SKIC8, SNUPN, SNX33, STOML1, STRA6, TBC1D21, TBC1D2B, THAP10, THSD4, THSD4-AS1, THSD4-AS2, TLE3, TMEM202, TMEM202-AS1, TMEM266, TSPAN3, UACA, UBE2Q2, UBL7, UBL7-DT, ULK3, ACSBG1, ADPGK, ADPGK-AS1, ARID3B, ARIH1, BBS4, C15orf39, CCDC33, CD276, CELF6, CHRNA3, CHRNA5, CHRNB4, CIB2, CIMAP1C, CLK3, COMMD4, COX5A, CPLX3, CRABP1, CSK, CSPG4, CT62, CYP11A1, CYP1A1, CYP1A2, DNAJA4, DNAJA4-DT, EDC3, ETFA, FAM219B, FBXO22, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GRAMD2A, HCN4, HEXA, HEXA-AS1, HIGD2B, HMG20A, HYKK, IDH3A, IMP3, INSYN1, INSYN1-AS1, IREB2, ISL2, ISLR, ISLR2, LARP6, LINC00597, LINC02204, LINC02205, LINC02255, LINC02259, LINGO1, LINGO1-AS1, LINGO1-AS2, LMAN1L, LOC101929439, LOC101929457, LOC105370890, LOC108964933, LOC110120861, LOC110121383, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC111562369, LOC112272613, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC116268468, LOC116268471, LOC116268472, LOC120285840, LOC121530588
See casesPathogenic
(Jun 22, 2015)
no assertion criteria provided
4.
GRCh37:
Chr15:72118777
GRCh38:
Chr15:71826436
MYO9Anot providedBenign
(May 13, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr15:72118925
GRCh38:
Chr15:71826584
MYO9AV2548DInborn genetic diseasesUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr15:72119006
GRCh38:
Chr15:71826665
MYO9AM2521RInborn genetic diseasesUncertain significance
(Apr 5, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr15:72119021
GRCh38:
Chr15:71826680
MYO9AP2516LInborn genetic diseasesUncertain significance
(Aug 4, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr15:72119038
GRCh38:
Chr15:71826697
MYO9AQ2510HMYO9A-related conditionUncertain significance
(Sep 5, 2023)
criteria provided, single submitter
9.
GRCh37:
Chr15:72119057
GRCh38:
Chr15:71826716
MYO9AN2504Tnot providedBenign
(May 4, 2021)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr15:72119083
GRCh38:
Chr15:71826742
MYO9Anot providedLikely benign
(Jan 8, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr15:72119106
GRCh38:
Chr15:71826765
MYO9AI2488VInborn genetic diseasesUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr15:72119118
GRCh38:
Chr15:71826777
MYO9AK2484EInborn genetic diseasesUncertain significance
(Oct 21, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr15:72119186
GRCh38:
Chr15:71826845
MYO9AR2461QInborn genetic diseasesUncertain significance
(Apr 5, 2023)
criteria provided, single submitter
14.
GRCh37:
Chr15:72119246
GRCh38:
Chr15:71826905
MYO9AT2441MInborn genetic diseasesUncertain significance
(Dec 16, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr15:72119291
GRCh38:
Chr15:71826950
MYO9AL2426SInborn genetic diseasesUncertain significance
(Jun 29, 2023)
criteria provided, single submitter
16.
GRCh37:
Chr15:72119294
GRCh38:
Chr15:71826953
MYO9AS2425FInborn genetic diseasesUncertain significance
(Feb 15, 2023)
criteria provided, single submitter
17.
GRCh37:
Chr15:72119323
GRCh38:
Chr15:71826982
MYO9AL2415FInborn genetic diseasesUncertain significance
(Oct 6, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr15:72119344
GRCh38:
Chr15:71827003
MYO9AK2408NMyasthenic syndrome, congenital, 24, presynapticUncertain significancecriteria provided, single submitter
19.
GRCh37:
Chr15:72119352
GRCh38:
Chr15:71827011
MYO9AA2406PMyasthenic syndrome, congenital, 24, presynapticUncertain significance
(Nov 18, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr15:72119423
GRCh38:
Chr15:71827082
MYO9Anot providedBenign
(May 24, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr15:72119569
GRCh38:
Chr15:71827228
MYO9Anot providedBenign
(May 14, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr15:72120240
GRCh38:
Chr15:71827899
MYO9AI2390Vnot providedBenign
(May 5, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr15:72120258
GRCh38:
Chr15:71827917
MYO9AM2384VInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Oct 21, 2021)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr15:72120329
GRCh38:
Chr15:71827988
MYO9AR2360HInborn genetic diseasesUncertain significance
(Sep 14, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr15:72120345
GRCh38:
Chr15:71828004
MYO9AL2355VInborn genetic diseasesUncertain significance
(Jun 7, 2023)
criteria provided, single submitter
26.
GRCh37:
Chr15:72122508
GRCh38:
Chr15:71830167
MYO9AA2328SInborn genetic diseasesUncertain significance
(Mar 2, 2023)
criteria provided, single submitter
27.
GRCh37:
Chr15:72122551
GRCh38:
Chr15:71830210
MYO9AS2313RInborn genetic diseasesUncertain significance
(Jan 5, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr15:72122559
GRCh38:
Chr15:71830218
MYO9AL2311VInborn genetic diseases, not providedUncertain significance
(Dec 2, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr15:72122572
GRCh38:
Chr15:71830231
MYO9Anot providedLikely benign
(Dec 8, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr15:72122611
GRCh38:
Chr15:71830270
MYO9Anot providedLikely benign
(Dec 13, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr15:72122616
GRCh38:
Chr15:71830275
MYO9AP2292SInborn genetic diseasesUncertain significance
(Oct 29, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr15:72122633
GRCh38:
Chr15:71830292
MYO9AR2286QInborn genetic diseasesUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr15:72122642
GRCh38:
Chr15:71830301
MYO9AR2283Hnot providedLikely benign
(Sep 1, 2023)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr15:72122645
GRCh38:
Chr15:71830304
MYO9AG2282EMyasthenic syndrome, congenital, 24, presynaptic, Flexion contractureConflicting interpretations of pathogenicity
(Nov 29, 2018)
no assertion criteria provided
35.
GRCh37:
Chr15:72141249
GRCh38:
Chr15:71848908
MYO9Anot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
36.
GRCh37:
Chr15:72141442-72141446
GRCh38:
Chr15:71849101-71849105
MYO9Anot providedBenign
(May 24, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr15:72141645
GRCh38:
Chr15:71849304
MYO9Anot providedBenign
(Jun 20, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr15:72142032-72142055
GRCh38:
Chr15:71849691-71849714
MYO9Anot providedBenign
(Jun 19, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr15:72142280-72142281
GRCh38:
Chr15:71849939-71849940
MYO9Anot providedBenign
(May 15, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr15:72142434
GRCh38:
Chr15:71850093
MYO9AR2219HBronchiectasisUncertain significance
(Feb 22, 2021)
no assertion criteria provided
41.
GRCh37:
Chr15:72142470
GRCh38:
Chr15:71850129
MYO9AN2207SInborn genetic diseasesUncertain significance
(Oct 22, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr15:72142541
GRCh38:
Chr15:71850200
MYO9Anot providedBenign
(May 13, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr15:72143629
GRCh38:
Chr15:71851288
MYO9Anot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
44.
GRCh37:
Chr15:72143643
GRCh38:
Chr15:71851302
MYO9AS2178Tnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
45.
GRCh37:
Chr15:72143678
GRCh38:
Chr15:71851337
MYO9AT2166KInborn genetic diseasesUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr15:72143701-72143702
GRCh38:
Chr15:71851360-71851361
MYO9AMyasthenic syndrome, congenital, 24, presynaptic, not providedUncertain significance
(Apr 30, 2021)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr15:72143855
GRCh38:
Chr15:71851514
MYO9Anot providedBenign
(May 14, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr15:72144494
GRCh38:
Chr15:71852153
MYO9AE2152Knot providedConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr15:72144522
GRCh38:
Chr15:71852181
MYO9Anot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
50.
GRCh37:
Chr15:72144529
GRCh38:
Chr15:71852188
MYO9AD2140GMyasthenic syndrome, congenital, 24, presynapticUncertain significancecriteria provided, single submitter
51.
GRCh37:
Chr15:72144563
GRCh38:
Chr15:71852222
MYO9AV2129IInborn genetic diseasesUncertain significance
(Oct 26, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr15:72144573
GRCh38:
Chr15:71852232
MYO9Anot providedLikely benign
(Sep 19, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr15:72144697
GRCh38:
Chr15:71852356
MYO9Anot providedBenign
(May 13, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr15:72144703-72144704
GRCh38:
Chr15:71852362-71852363
MYO9Anot providedBenign
(May 14, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr15:72144704
GRCh38:
Chr15:71852363
MYO9Anot providedBenign
(May 13, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr15:72146728
GRCh38:
Chr15:71854387
MYO9Anot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
57.
GRCh37:
Chr15:72146734
GRCh38:
Chr15:71854393
MYO9Anot providedLikely benign
(May 18, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr15:72146736
GRCh38:
Chr15:71854395
MYO9AR2110WInborn genetic diseasesUncertain significance
(Aug 1, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr15:72146793
GRCh38:
Chr15:71854452
MYO9Anot providedUncertain significance
(Oct 1, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr15:72146816
GRCh38:
Chr15:71854475
MYO9AI2083TInborn genetic diseasesUncertain significance
(Jun 6, 2023)
criteria provided, single submitter
61.
GRCh37:
Chr15:72146837
GRCh38:
Chr15:71854496
MYO9AP2076LInborn genetic diseasesUncertain significance
(Jun 30, 2023)
criteria provided, single submitter
62.
GRCh37:
Chr15:72146844
GRCh38:
Chr15:71854503
MYO9AT2074SInborn genetic diseasesUncertain significance
(Mar 28, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr15:72146888
GRCh38:
Chr15:71854547
MYO9AR2059QInborn genetic diseasesUncertain significance
(Jul 12, 2023)
criteria provided, single submitter
64.
GRCh37:
Chr15:72146915
GRCh38:
Chr15:71854574
MYO9Anot providedBenign
(May 5, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr15:72152225
GRCh38:
Chr15:71859884
MYO9Anot providedBenign
(May 14, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr15:72154904
GRCh38:
Chr15:71862563
MYO9AP2010SInborn genetic diseasesUncertain significance
(Jun 22, 2023)
criteria provided, single submitter
67.
GRCh37:
Chr15:72154914
GRCh38:
Chr15:71862573
MYO9Anot providedLikely benign
(Jun 13, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr15:72155068
GRCh38:
Chr15:71862727
MYO9Anot providedBenign
(May 13, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr15:72155270-72155271
GRCh38:
Chr15:71862929-71862930
MYO9Anot providedBenign
(Jun 20, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr15:72155271
GRCh38:
Chr15:71862930
MYO9Anot providedBenign
(Jun 20, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr15:72168123
GRCh38:
Chr15:71875782
MYO9Anot providedLikely benign
(Jul 21, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr15:72170400
GRCh38:
Chr15:71878059
MYO9AS1971Lnot providedLikely benign
(May 4, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr15:72170412
GRCh38:
Chr15:71878071
MYO9AE1967GInborn genetic diseasesUncertain significance
(Feb 10, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr15:72170451
GRCh38:
Chr15:71878110
MYO9AV1954GInborn genetic diseasesUncertain significance
(Apr 19, 2023)
criteria provided, single submitter
75.
GRCh37:
Chr15:72170478
GRCh38:
Chr15:71878137
MYO9AL1945Pnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
76.
GRCh37:
Chr15:72170505
GRCh38:
Chr15:71878164
MYO9AT1936MMyasthenic syndrome, congenital, 24, presynapticUncertain significance
(Aug 27, 2020)
criteria provided, single submitter
77.
GRCh37:
Chr15:72170518
GRCh38:
Chr15:71878177
MYO9AI1932VInborn genetic diseasesUncertain significance
(May 5, 2023)
criteria provided, single submitter
78.
GRCh37:
Chr15:72170555
GRCh38:
Chr15:71878214
MYO9Anot providedLikely benign
(Jul 11, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr15:72170599
GRCh38:
Chr15:71878258
MYO9Anot providedBenign
(May 24, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr15:72170686
GRCh38:
Chr15:71878345
MYO9Anot providedBenign
(May 13, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr15:72170762
GRCh38:
Chr15:71878421
MYO9Anot providedBenign
(May 13, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr15:72172515
GRCh38:
Chr15:71880174
MYO9Anot providedBenign
(May 13, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr15:72172690
GRCh38:
Chr15:71880349
MYO9AF1870LInborn genetic diseasesUncertain significance
(Jul 13, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr15:72172745
GRCh38:
Chr15:71880404
MYO9Anot providedBenign
(May 4, 2021)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr15:72172778
GRCh38:
Chr15:71880437
MYO9Anot providedBenign
(May 4, 2021)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr15:72172797
GRCh38:
Chr15:71880456
MYO9AR1834HInborn genetic diseasesUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr15:72172809
GRCh38:
Chr15:71880468
MYO9AP1830RInborn genetic diseasesUncertain significance
(Oct 12, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr15:72172843
GRCh38:
Chr15:71880502
MYO9AR1819GInborn genetic diseasesUncertain significance
(Jun 7, 2023)
criteria provided, single submitter
89.
GRCh37:
Chr15:72172872
GRCh38:
Chr15:71880531
MYO9AP1809LInborn genetic diseasesUncertain significance
(Jun 30, 2023)
criteria provided, single submitter
90.
GRCh37:
Chr15:72172883
GRCh38:
Chr15:71880542
MYO9AH1805Qnot providedBenign
(May 5, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr15:72172986
GRCh38:
Chr15:71880645
MYO9Anot providedBenign
(May 13, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr15:72173092
GRCh38:
Chr15:71880751
MYO9Anot providedBenign
(May 14, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr15:72175950
GRCh38:
Chr15:71883609
LOC130057457, MYO9AH1795Ynot providedBenign
(May 6, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr15:72175981
GRCh38:
Chr15:71883640
LOC130057457, MYO9Anot providedLikely benign
(Dec 19, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr15:72175983
GRCh38:
Chr15:71883642
LOC130057457, MYO9AP1784SMyasthenic syndrome, congenital, 24, presynapticUncertain significance
(May 5, 2020)
criteria provided, single submitter
96.
GRCh37:
Chr15:72175985
GRCh38:
Chr15:71883644
LOC130057457, MYO9AS1783LInborn genetic diseasesUncertain significance
(Nov 10, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr15:72176024
GRCh38:
Chr15:71883683
LOC130057457, MYO9AK1770TInborn genetic diseasesUncertain significance
(Nov 8, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr15:72176033
GRCh38:
Chr15:71883692
LOC130057457, MYO9AG1767Enot providedLikely benign
(Sep 12, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr15:72176278-72176282
GRCh38:
Chr15:71883937-71883941
MYO9Anot providedBenign
(May 13, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr15:72176322
GRCh38:
Chr15:71883981
MYO9Anot providedBenign
(Jun 20, 2021)
criteria provided, single submitter
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