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Items: 1 to 100 of 564

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:
Chr15:72447290-102461201
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
5.
GRCh37:
Chr15:72921369-75535330
GRCh38:
Chr15:72629028-75242989
ADPGK, ADPGK-AS1, ARID3B, BBS4, C15orf39, CCDC33, CD276, CLK3, COX5A, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, GOLGA6B, HCN4, HIGD2B, INSYN1, INSYN1-AS1, ISLR, ISLR2, LINC02255, LINC02259, LMAN1L, LOC105370890, LOC108964933, LOC110121383, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC112272614, LOC112272615, LOC112272616, LOC116268471, LOC120285840, LOC121530591, LOC121530592, LOC121530593, LOC121847957, LOC125110357, LOC125138289, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC129390718, LOC129390719, LOC129390720, LOC129390721, LOC129390722, 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, LOC132090330, LOC132090331, LOC283731, LOXL1, LOXL1-AS1, MIR12135, MIR4513, MIR6881, MIR6882, MPI, NEO1, NPTN, NPTN-IT1, PML, PPCDC, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, UBL7-DT, ULK3
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh38:
Chr15:72640623-75277317
ADPGK, ADPGK-AS1, CYP1A2, EDC3, FAM219B, GOLGA6A, C15orf39, CCDC33, CYP11A1, CYP1A1, ARID3B, BBS4, CD276, CLK3, COX5A, CPLX3, CSK, GOLGA6B, GOLGA6C, GOLGA6D, HCN4, HIGD2B, INSYN1, INSYN1-AS1, ISLR, ISLR2, LINC02255, LMAN1L, LOC105370890, LOC108964933, LOC110121383, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC112272614, LOC112272615, LOC112272616, LOC116268471, LOC120285840, LOC121530591, LOC121530592, LOC121530593, LOC121847957, LOC125110357, LOC125138289, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC129390718, LOC129390719, LOC129390720, LOC129390721, LOC129390722, 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, LOC132090330, LOC132090331, LOC283731, LOXL1, LOXL1-AS1, MIR12135, MIR4513, MIR6881, MIR6882, MPI, NEO1, NPTN, NPTN-IT1, PML, PPCDC, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, UBL7-DT, ULK3
SchizophreniaLikely pathogenic
(Mar 20, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr15:72963970-75535330
GRCh38:
Chr15:72671629-75242989
LOC110467517, LOC112272614, LOC112272615, LOC112272616, LOC116268471, LOC120285840, LOC121530591, LOC121530592, LOC121530593, LOC121847957, LOC125110357, LOC125138289, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC129390718, LOC129390719, LOC129390720, LOC129390721, LOC129390722, 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, LOC132090330, LOC132090331, LOC283731, LOXL1, LOXL1-AS1, MIR12135, MIR4513, MIR6881, MIR6882, MPI, NEO1, NPTN, NPTN-IT1, PML, PPCDC, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, UBL7-DT, ULK3, ADPGK, ADPGK-AS1, ARID3B, BBS4, C15orf39, CCDC33, CD276, CLK3, COX5A, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, HCN4, HIGD2B, INSYN1, INSYN1-AS1, ISLR, ISLR2, LINC02255, LMAN1L, LOC105370890, LOC108964933, LOC110121383, LOC110121492, LOC110467515, LOC110467516
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
8.
GRCh37:
Chr15:72963970-75492144
GRCh38:
Chr15:72671629-75199803
NPTN-IT1, PML, PPCDC, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, UBL7-DT, ULK3, ADPGK, ADPGK-AS1, ARID3B, BBS4, C15orf39, CCDC33, CD276, CLK3, COX5A, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, HCN4, HIGD2B, INSYN1, INSYN1-AS1, ISLR, ISLR2, LINC02255, LMAN1L, LOC105370890, LOC108964933, LOC110121383, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC112272614, LOC112272615, LOC112272616, LOC116268471, LOC120285840, LOC121530591, LOC121530592, LOC121530593, LOC121847957, LOC125110357, LOC125138289, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC129390718, LOC129390719, LOC129390720, LOC129390721, LOC129390722, 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, LOC132090330, LOC132090331, LOC283731, LOXL1, LOXL1-AS1, MIR12135, MIR4513, MIR6881, MIR6882, MPI, NEO1, NPTN
See casesLikely pathogenic
(Apr 8, 2011)
no assertion criteria provided
9.
GRCh37:
Chr15:72963970-75954617
GRCh38:
Chr15:72671629-75662276
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, LOC132090330, LOC132090331, LOC283731, LOXL1, LOXL1-AS1, MAN2C1, MIR12135, MIR4513, MIR631, MIR6881, MIR6882, MPI, NEIL1, NEO1, NPTN, NPTN-IT1, PML, PPCDC, PTPN9, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, SIN3A, SNUPN, SNX33, STOML1, STRA6, TBC1D21, UBL7, UBL7-DT, ULK3, ADPGK, ADPGK-AS1, ARID3B, BBS4, C15orf39, CCDC33, CD276, CLK3, COMMD4, COX5A, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, GOLGA6C, GOLGA6D, HCN4, HIGD2B, IMP3, INSYN1, INSYN1-AS1, ISLR, ISLR2, LINC02255, LMAN1L, LOC105370890, LOC108964933, LOC110121383, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC116268471, LOC120285840, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121847957, LOC121847958, LOC125110357, LOC125138289, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC129390718, LOC129390719, LOC129390720, LOC129390721, LOC129390722, LOC130057483, LOC130057484, LOC130057485, LOC130057486, LOC130057487, LOC130057488, LOC130057489, LOC130057490, LOC130057491, LOC130057492, LOC130057493, LOC130057494, LOC130057495, LOC130057496, LOC130057497, LOC130057498, LOC130057499, LOC130057500, LOC130057501, LOC130057502, LOC130057503, LOC130057504, LOC130057505, LOC130057506
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr15:72977572-76019966
GRCh38:
Chr15:72685231-75727625
ADPGK, ADPGK-AS1, ARID3B, BBS4, C15orf39, CCDC33, CD276, CIMAP1C, CLK3, COMMD4, COX5A, CPLX3, CSK, CSPG4, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, GOLGA6C, GOLGA6D, HCN4, HIGD2B, IMP3, INSYN1, INSYN1-AS1, ISLR, ISLR2, LINC02255, LMAN1L, LOC105370890, LOC108964933, LOC110121383, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC116268471, LOC120285840, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121847957, LOC121847958, LOC125110357, LOC125138289, LOC125138290, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC129390718, LOC129390719, LOC129390720, LOC129390721, LOC129390722, 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, LOC132090330, LOC132090331, LOC283731, LOXL1, LOXL1-AS1, MAN2C1, MIR12135, MIR4513, MIR631, MIR6881, MIR6882, MPI, NEIL1, NEO1, NPTN, NPTN-IT1, PML, PPCDC, PTPN9, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, SIN3A, SNUPN, SNX33, STOML1, STRA6, TBC1D21, UBL7, UBL7-DT, ULK3
See casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
11.
GRCh37:
Chr15:72978525
GRCh38:
Chr15:72686184
BBS4Bardet-Biedl syndrome 4Uncertain significance
(Apr 14, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr15:72978531
GRCh38:
Chr15:72686190
BBS4Bardet-Biedl syndrome 4, not specifiedBenign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr15:72978552
GRCh38:
Chr15:72686211
BBS4not specified, Bardet-Biedl syndrome 4Benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr15:72978552
GRCh38:
Chr15:72686211
BBS4Bardet-Biedl syndromeBenign
(Oct 13, 2009)
no assertion criteria provided
15.
GRCh37:
Chr15:72978555
GRCh38:
Chr15:72686214
BBS4Bardet-Biedl syndrome 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr15:72978559-72978602
GRCh38:
Chr15:72686218-72686261
BBS4Bardet-Biedl syndromePathogenic
(Sep 16, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr15:72978563
GRCh38:
Chr15:72686222
BBS4Bardet-Biedl syndromeBenign
(Oct 13, 2009)
no assertion criteria provided
18.
GRCh37:
Chr15:72978566
GRCh38:
Chr15:72686225
BBS4not provided, Bardet-Biedl syndrome 4Uncertain significance
(Jan 6, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr15:72978569
GRCh38:
Chr15:72686228
BBS4M1VBardet-Biedl syndrome 4, Bardet-Biedl syndromeConflicting interpretations of pathogenicity
(Feb 15, 2023)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr15:72978570
GRCh38:
Chr15:72686229
BBS4M1TBardet-Biedl syndrome, not providedPathogenic/Likely pathogenic
(Aug 5, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr15:72978573
GRCh38:
Chr15:72686232
BBS4A2VBardet-Biedl syndromeUncertain significance
(Apr 17, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr15:72978574
GRCh38:
Chr15:72686233
BBS4Bardet-Biedl syndromeLikely benign
(Oct 15, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr15:72978576
GRCh38:
Chr15:72686235
BBS4E3ABardet-Biedl syndromeBenign
(Oct 13, 2009)
no assertion criteria provided
24.
GRCh37:
Chr15:72978578
GRCh38:
Chr15:72686237
BBS4E4*Bardet-Biedl syndromePathogenic
(Aug 30, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr15:72978578
GRCh38:
Chr15:72686237
BBS4E4QBardet-Biedl syndromeUncertain significance
(Jun 30, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr15:72978578
GRCh38:
Chr15:72686237
BBS4E4KBardet-Biedl syndromeUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr15:72978580
GRCh38:
Chr15:72686239
BBS4Bardet-Biedl syndrome, not specifiedLikely benign
(Feb 18, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr15:72978582
GRCh38:
Chr15:72686241
BBS4R5TBardet-Biedl syndromeUncertain significance
(Apr 26, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr15:72978584
GRCh38:
Chr15:72686243
BBS4V6IBardet-Biedl syndromeUncertain significance
(Mar 27, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr15:72978585
GRCh38:
Chr15:72686244
BBS4V6ABardet-Biedl syndromeBenign
(Oct 13, 2009)
no assertion criteria provided
31.
GRCh37:
Chr15:72978586
GRCh38:
Chr15:72686245
BBS4Bardet-Biedl syndromeBenign
(Oct 13, 2009)
no assertion criteria provided
32.
GRCh37:
Chr15:72978587
GRCh38:
Chr15:72686246
BBS4A7TBardet-Biedl syndromeUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr15:72978587
GRCh38:
Chr15:72686246
BBS4A7PBardet-Biedl syndromeUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr15:72978588
GRCh38:
Chr15:72686247
BBS4A7GBardet-Biedl syndromeUncertain significance
(Dec 21, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr15:72978588
GRCh38:
Chr15:72686247
BBS4A7VBardet-Biedl syndromeBenign
(Oct 13, 2009)
no assertion criteria provided
36.
GRCh37:
Chr15:72978591
GRCh38:
Chr15:72686250
BBS4T8MBardet-Biedl syndromeUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr15:72978593
GRCh38:
Chr15:72686252
BBS4Bardet-Biedl syndromeLikely pathogenic
(Aug 31, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr15:72978593
GRCh38:
Chr15:72686252
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeLikely pathogenic
(Jun 18, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr15:72978598
GRCh38:
Chr15:72686257
BBS4Bardet-Biedl syndromeUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr15:72978599
GRCh38:
Chr15:72686258
BBS4Bardet-Biedl syndromeLikely benign
(Sep 27, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr15:72978600
GRCh38:
Chr15:72686259
BBS4not specified, Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr15:72978608
GRCh38:
Chr15:72686267
BBS4Bardet-Biedl syndromeLikely benign
(Aug 19, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr15:72978610
GRCh38:
Chr15:72686269
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Likely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr15:72987500
GRCh38:
Chr15:72695159
BBS4Bardet-Biedl syndromeLikely benign
(Aug 31, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr15:72987519-72987520
GRCh38:
Chr15:72695178-72695179
BBS4T10fsBardet-Biedl syndromeBenign
(Oct 13, 2009)
no assertion criteria provided
46.
GRCh37:
Chr15:72987524
GRCh38:
Chr15:72695183
BBS4Q11EBardet-Biedl syndromeUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr15:72987530
GRCh38:
Chr15:72695189
BBS4P13SBardet-Biedl syndrome 4, Bardet-Biedl syndromeConflicting interpretations of pathogenicity
(Oct 12, 2022)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr15:72987532
GRCh38:
Chr15:72695191
BBS4Bardet-Biedl syndromeLikely benign
(Jan 2, 2020)
criteria provided, single submitter
49.
GRCh37:
Chr15:72987535
GRCh38:
Chr15:72695194
BBS4Bardet-Biedl syndromeBenign
(Oct 13, 2009)
no assertion criteria provided
50.
GRCh37:
Chr15:72987554
GRCh38:
Chr15:72695213
BBS4P21SBardet-Biedl syndromeUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr15:72987556
GRCh38:
Chr15:72695215
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeConflicting interpretations of pathogenicity
(Oct 4, 2022)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr15:72987557
GRCh38:
Chr15:72695216
BBS4R22WBardet-Biedl syndrome, BBS4-related condition, not provided,
Bardet-Biedl syndrome 4
Uncertain significance
(Sep 15, 2023)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr15:72987558
GRCh38:
Chr15:72695217
BBS4R22QBBS4-related condition, Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
Uncertain significance
(Feb 7, 2023)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr15:72987560
GRCh38:
Chr15:72695219
BBS4Q23*Bardet-Biedl syndromePathogenic
(Apr 8, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr15:72987562-72987563
GRCh38:
Chr15:72695221-72695222
BBS4A26fsBardet-Biedl syndrome 4Uncertain significance
(Jan 1, 2019)
criteria provided, single submitter
56.
GRCh37:
Chr15:72987570
GRCh38:
Chr15:72695229
BBS4Bardet-Biedl syndromePathogenic
(Jun 4, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr15:72987571
GRCh38:
Chr15:72695230
BBS4Bardet-Biedl syndromePathogenic
(Dec 24, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr15:72987572
GRCh38:
Chr15:72695231
BBS4Bardet-Biedl syndrome 4Uncertain significance
(May 19, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr15:72987576
GRCh38:
Chr15:72695235
BBS4Bardet-Biedl syndromeLikely benign
(Oct 20, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr15:72987579
GRCh38:
Chr15:72695238
BBS4Bardet-Biedl syndromeLikely benign
(Jun 18, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr15:72987586-72987587
GRCh38:
Chr15:72695245-72695246
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeLikely benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr15:72987588
GRCh38:
Chr15:72695247
BBS4Bardet-Biedl syndrome 4, not specified, not provided,
Bardet-Biedl syndrome
Benign
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr15:73000565-73006826
GRCh38:
Chr15:72708224-72714485
BBS4Bardet-Biedl syndromeLikely pathogenic
(Jul 20, 2016)
no assertion criteria provided
64.
GRCh37:
Chr15:73001821
GRCh38:
Chr15:72709480
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromePathogenic
(Oct 13, 2009)
no assertion criteria provided
65.
GRCh37:
Chr15:73002021-73004668
GRCh38:
Chr15:72709680-72712327
BBS4Bardet-Biedl syndromePathogenic
(Jun 24, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr15:73002024
GRCh38:
Chr15:72709683
BBS4Bardet-Biedl syndromeLikely benign
(Oct 23, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr15:73002035
GRCh38:
Chr15:72709694
BBS4not specified, Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
Benign
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr15:73002037
GRCh38:
Chr15:72709696
BBS4Bardet-Biedl syndromeLikely benign
(Oct 17, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr15:73002041
GRCh38:
Chr15:72709700
BBS4A26VBardet-Biedl syndromeUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr15:73002042
GRCh38:
Chr15:72709701
BBS4Bardet-Biedl syndromeLikely benign
(Jan 15, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr15:73002044
GRCh38:
Chr15:72709703
BBS4P27LBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr15:73002049
GRCh38:
Chr15:72709708
BBS4F29VBardet-Biedl syndromeUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr15:73002055
GRCh38:
Chr15:72709714
BBS4I31VBardet-Biedl syndromeBenign
(Oct 13, 2009)
no assertion criteria provided
74.
GRCh37:
Chr15:73002058
GRCh38:
Chr15:72709717
BBS4Bardet-Biedl syndromeLikely benign
(Jul 12, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr15:73002080
GRCh38:
Chr15:72709739
BBS4I39TBardet-Biedl syndromeUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr15:73002088
GRCh38:
Chr15:72709747
BBS4H42YInborn genetic diseasesUncertain significance
(May 27, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr15:73002093
GRCh38:
Chr15:72709752
BBS4Y43*Bardet-Biedl syndromePathogenic
(Jan 9, 2020)
criteria provided, single submitter
78.
GRCh37:
Chr15:73002094
GRCh38:
Chr15:72709753
BBS4I44VInborn genetic diseasesUncertain significance
(Jun 12, 2023)
criteria provided, single submitter
79.
GRCh37:
Chr15:73002097
GRCh38:
Chr15:72709756
BBS4R45WBardet-Biedl syndromeUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr15:73002098
GRCh38:
Chr15:72709757
BBS4R45QBBS4-related condition, Bardet-Biedl syndromeUncertain significance
(Aug 1, 2023)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr15:73002101
GRCh38:
Chr15:72709760
BBS4K46Rnot specified, not provided, Bardet-Biedl syndrome,
Bardet-Biedl syndrome 4
Conflicting interpretations of pathogenicity
(Oct 28, 2022)
criteria provided, conflicting interpretations
82.
GRCh37:
Chr15:73002110
GRCh38:
Chr15:72709769
BBS4E49AInborn genetic diseasesUncertain significance
(Sep 27, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr15:73002117
GRCh38:
Chr15:72709776
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeConflicting interpretations of pathogenicity
(Jul 25, 2022)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr15:73002124
GRCh38:
Chr15:72709783
BBS4Bardet-Biedl syndromeUncertain significance
(Feb 8, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr15:73002129
GRCh38:
Chr15:72709788
BBS4not providedLikely benign
(Jul 31, 2017)
criteria provided, single submitter
86.
GRCh37:
Chr15:73002132
GRCh38:
Chr15:72709791