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Items: 1 to 100 of 1473

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:
Chr15:73612237
GRCh38:
Chr15:73319896
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr15:73612241
GRCh38:
Chr15:73319900
HCN4not provided, Sick sinus syndrome 2, autosomal dominantBenign
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr15:73612377
GRCh38:
Chr15:73320036
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr15:73612429
GRCh38:
Chr15:73320088
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr15:73612468
GRCh38:
Chr15:73320127
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr15:73612581
GRCh38:
Chr15:73320240
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr15:73612812
GRCh38:
Chr15:73320471
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr15:73612833
GRCh38:
Chr15:73320492
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr15:73612988
GRCh38:
Chr15:73320647
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr15:73613163
GRCh38:
Chr15:73320822
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr15:73613224
GRCh38:
Chr15:73320883
HCN4Sick sinus syndrome 2, autosomal dominant, Epilepsy, idiopathic generalized, susceptibility to, 18, Brugada syndrome 8,
Sick sinus syndrome 2, autosomal dominant
Uncertain significance
(Dec 27, 2021)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr15:73613332
GRCh38:
Chr15:73320991
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr15:73613340
GRCh38:
Chr15:73320999
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr15:73613617
GRCh38:
Chr15:73321276
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr15:73613625
GRCh38:
Chr15:73321284
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr15:73613650
GRCh38:
Chr15:73321309
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr15:73613682
GRCh38:
Chr15:73321341
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr15:73613737
GRCh38:
Chr15:73321396
HCN4not provided, Sick sinus syndrome 2, autosomal dominantConflicting interpretations of pathogenicity
(Jul 1, 2022)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr15:73613842
GRCh38:
Chr15:73321501
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr15:73613921
GRCh38:
Chr15:73321580
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr15:73613975
GRCh38:
Chr15:73321634
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr15:73613978
GRCh38:
Chr15:73321637
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr15:73614055
GRCh38:
Chr15:73321714
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr15:73614114
GRCh38:
Chr15:73321773
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr15:73614188
GRCh38:
Chr15:73321847
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr15:73614230
GRCh38:
Chr15:73321889
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr15:73614408
GRCh38:
Chr15:73322067
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr15:73614654
GRCh38:
Chr15:73322313
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr15:73614695
GRCh38:
Chr15:73322354
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr15:73614703-73614704
GRCh38:
Chr15:73322362-73322363
HCN4not providedBenign
(Jun 15, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr15:73614718
GRCh38:
Chr15:73322377
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr15:73614778
GRCh38:
Chr15:73322437
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr15:73614814
GRCh38:
Chr15:73322473
HCN4not providedUncertain significance
(Aug 30, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr15:73614820
GRCh38:
Chr15:73322479
HCN4not providedLikely benign
(Sep 25, 2019)
criteria provided, single submitter
45.
GRCh37:
Chr15:73614825
GRCh38:
Chr15:73322484
HCN4Brugada syndrome 8Likely benign
(Aug 16, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr15:73614829
GRCh38:
Chr15:73322488
HCN4N1202SCardiovascular phenotype, Brugada syndrome 8Uncertain significance
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr15:73614832
GRCh38:
Chr15:73322491
HCN4S1201FCardiovascular phenotypeUncertain significance
(May 30, 2023)
criteria provided, single submitter
48.
GRCh37:
Chr15:73614832-73614834
GRCh38:
Chr15:73322491-73322493
HCN4S1201FCardiovascular phenotypeUncertain significance
(Jun 14, 2023)
criteria provided, single submitter
49.
GRCh37:
Chr15:73614834
GRCh38:
Chr15:73322493
HCN4Brugada syndrome 8Likely benign
(Jan 23, 2020)
criteria provided, single submitter
50.
GRCh37:
Chr15:73614834-73614835
GRCh38:
Chr15:73322493-73322494
HCN4P1200LBrugada syndrome 8Uncertain significance
(Jun 1, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr15:73614834
GRCh38:
Chr15:73322493
HCN4Cardiovascular phenotype, not specified, not provided,
Sick sinus syndrome 2, autosomal dominant, Brugada syndrome 8
Benign
(Apr 4, 2023)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr15:73614837
GRCh38:
Chr15:73322496
HCN4Brugada syndrome 8Likely benign
(Nov 2, 2019)
criteria provided, single submitter
53.
GRCh37:
Chr15:73614838
GRCh38:
Chr15:73322497
HCN4L1199QCardiovascular phenotype, Brugada syndrome 8, not provided
Uncertain significance
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr15:73614844
GRCh38:
Chr15:73322503
HCN4S1197FCardiovascular phenotypeUncertain significance
(Feb 5, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr15:73614847
GRCh38:
Chr15:73322506
HCN4R1196HBrugada syndrome 8, Cardiovascular phenotype, not specified
Benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr15:73614848
GRCh38:
Chr15:73322507
HCN4R1196SBrugada syndrome 8Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr15:73614848
GRCh38:
Chr15:73322507
HCN4R1196CBrugada syndrome 8Uncertain significance
(Oct 24, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr15:73614851
GRCh38:
Chr15:73322510
HCN4V1195LCardiovascular phenotypeUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr15:73614852
GRCh38:
Chr15:73322511
HCN4Cardiovascular phenotype, not provided, Brugada syndrome 8
Conflicting interpretations of pathogenicity
(Sep 19, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr15:73614853
GRCh38:
Chr15:73322512
HCN4P1194Lnot provided, Brugada syndrome 8, Cardiovascular phenotype
Uncertain significance
(Aug 10, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr15:73614855
GRCh38:
Chr15:73322514
HCN4Brugada syndrome 8Likely benign
(Aug 31, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr15:73614857
GRCh38:
Chr15:73322516
HCN4E1193QCardiovascular phenotype, not provided, Brugada syndrome 8
Conflicting interpretations of pathogenicity
(Oct 18, 2022)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr15:73614859
GRCh38:
Chr15:73322518
HCN4P1192LBrugada syndrome 8Uncertain significance
(Oct 4, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr15:73614864
GRCh38:
Chr15:73322523
HCN4Brugada syndrome 8Likely benign
(Feb 15, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr15:73614866
GRCh38:
Chr15:73322525
HCN4A1190TCardiovascular phenotype, Brugada syndrome 8Uncertain significance
(Nov 8, 2021)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr15:73614876
GRCh38:
Chr15:73322535
HCN4Cardiovascular phenotypeLikely benign
(Feb 11, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr15:73614879
GRCh38:
Chr15:73322538
HCN4Brugada syndrome 8Likely benign
(Aug 7, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr15:73614885
GRCh38:
Chr15:73322544
HCN4Brugada syndrome 8Likely benign
(Jun 22, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr15:73614890-73614893
GRCh38:
Chr15:73322549-73322552
HCN4T1181fsBrugada syndrome 8Uncertain significance
(Jun 16, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr15:73614893
GRCh38:
Chr15:73322552
HCN4T1181PBrugada syndrome 8Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr15:73614894-73614907
GRCh38:
Chr15:73322553-73322566
HCN4G1176fsBrugada syndrome 8Uncertain significance
(Jul 12, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr15:73614897-73614898
GRCh38:
Chr15:73322556-73322557
HCN4L1180fsnot provided, Epilepsy, idiopathic generalized, susceptibility to, 18, Brugada syndrome 8,
Sick sinus syndrome 2, autosomal dominant
Uncertain significance
(Aug 19, 2021)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr15:73614898
GRCh38:
Chr15:73322557
HCN4P1179LCardiovascular phenotypeUncertain significance
(Mar 29, 2020)
criteria provided, single submitter
74.
GRCh37:
Chr15:73614901
GRCh38:
Chr15:73322560
HCN4P1178LBrugada syndrome 8Uncertain significance
(May 5, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr15:73614902
GRCh38:
Chr15:73322561
HCN4P1178SBrugada syndrome 8Uncertain significance
(Jul 6, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr15:73614903
GRCh38:
Chr15:73322562
HCN4Brugada syndrome 8Likely benign
(Jul 19, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr15:73614903
GRCh38:
Chr15:73322562
HCN4P1179fsBrugada syndrome 8, Sick sinus syndrome 2, autosomal dominant, Epilepsy, idiopathic generalized, susceptibility to, 18,
Brugada syndrome 8
Uncertain significance
(Nov 12, 2021)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr15:73614903
GRCh38:
Chr15:73322562
HCN4Brugada syndrome 8Likely benign
(Aug 12, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr15:73614903
GRCh38:
Chr15:73322562
HCN4Cardiovascular phenotype, not specified, Brugada syndrome 8
Likely benign
(Dec 17, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr15:73614905
GRCh38:
Chr15:73322564
HCN4G1177RBrugada syndrome 8Uncertain significance
(Mar 26, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr15:73614907
GRCh38:
Chr15:73322566
HCN4G1176ACardiovascular phenotypeUncertain significance
(Apr 18, 2023)
criteria provided, single submitter
82.
GRCh37:
Chr15:73614908
GRCh38:
Chr15:73322567
HCN4G1176RCardiovascular phenotype, Brugada syndrome 8Uncertain significance
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr15:73614910
GRCh38:
Chr15:73322569
HCN4S1175YCardiovascular phenotypeUncertain significance
(Feb 17, 2023)
criteria provided, single submitter
84.
GRCh37:
Chr15:73614921
GRCh38:
Chr15:73322580
HCN4Brugada syndrome 8Likely benign
(Feb 20, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr15:73614922
GRCh38:
Chr15:73322581<