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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:60120659-102461201
GRCh38:
Chr15:59828460-101920998
LOC130057816, LOC130057817, LOC130057818, LOC130057819, LOC130057820, LOC130057821, LOC130057822, LOC130057823, LOC130057824, LOC130057825, LOC130057826, LOC130057827, LOC130057828, LOC130057829, LOC130057830, LOC130057831, LOC130057832, LOC130057833, LOC130057834, LOC130057835, LOC130057836, LOC130057837, LOC130057838, LOC130057839, LOC130057840, LOC130057841, LOC130057842, LOC130057843, LOC130057844, LOC130057845, LOC130057846, LOC130057847, LOC130057848, LOC130057849, LOC130057850, LOC130057851, LOC130057852, LOC130057853, LOC130057854, LOC130057855, LOC130057856, LOC130057857, LOC130057858, LOC130057859, LOC130057860, LOC130057861, LOC130057862, LOC130057863, LOC130057864, LOC130057865, LOC130057866, LOC130057867, LOC130057868, LOC130057869, LOC130057870, LOC130057871, LOC130057872, LOC130057873, LOC130057874, LOC130057875, LOC130057876, LOC130057877, LOC130057878, LOC130057879, LOC130057880, LOC130057881, LOC130057882, LOC130057883, LOC130057884, LOC130057885, LOC130057886, LOC130057887, LOC130057888, LOC130057889, LOC130057890, LOC130057891, LOC130057892, LOC130057893, LOC130057894, LOC130057895, LOC130057896, LOC130057897, LOC130057898, LOC130057899, LOC130057900, LOC130057901, LOC130057902, LOC130057903, LOC130057904, LOC130057905, LOC130057906, LOC130057907, LOC130057908, LOC130057909, LOC130057910, LOC130057911, LOC130057912, LOC130057913, LOC130057914, LOC130057915, LOC130057916, LOC130057917, LOC130057918, LOC130057919, LOC130057920, LOC130057921, LOC130057922, LOC130057923, LOC130057924, LOC130057925, LOC130057926, LOC130057927, LOC130057928, LOC130057929, LOC130057930, LOC130057931, LOC130057932, LOC130057933, LOC130057934, LOC130057935, LOC130057936, LOC130057937, LOC130057938, LOC130057939, LOC130057940, LOC130057941, LOC130057942, LOC130057943, LOC130057944, LOC130057945, LOC130057946, LOC130057947, LOC130057948, LOC130057949, LOC130057950, LOC130057951, LOC130057952, LOC130057953, LOC130057954, LOC130057955, LOC130057956, LOC130057957, LOC130057958, LOC130057959, LOC130057960, LOC130057961, LOC130057962, LOC130057963, LOC130057964, LOC130057965, LOC130057966, LOC130057967, LOC130057968, LOC130057969, LOC130057970, LOC130057971, LOC130057972, LOC130057973, LOC130057974, LOC130057975, LOC130057976, LOC130057977, LOC130057978, LOC130057979, LOC130057980, LOC130057981, LOC130057982, LOC130057983, LOC130057984, LOC130057985, LOC130057986, LOC130057987, LOC130057988, LOC130057989, LOC130057990, LOC130057991, LOC130057992, LOC130057993, LOC130057994, LOC130057995, LOC130057996, LOC130057997, LOC130057998, LOC130057999, LOC130058000, LOC130058001, LOC130058002, LOC130058003, LOC130058004, LOC130058005, LOC130058006, LOC130058007, LOC130058008, LOC130058009, LOC130058010, LOC130058011, LOC130058012, LOC130058013, LOC130058014, LOC130058015, LOC130058016, LOC130058017, LOC130058018, LOC130058019, LOC130058020, LOC130058021, LOC130058022, LOC130058023, LOC130058024, LOC130058025, LOC130058026, LOC130058027, LOC130058028, LOC130058029, LOC130058030, LOC130058031, LOC130058032, LOC130058033, LOC130058034, LOC130058035, LOC130058036, LOC130058037, LOC130058038, LOC130058039, LOC130058040, LOC130058041, LOC130058042, LOC130058043, LOC130058044, LOC130058045, LOC130058046, LOC130058047, LOC130058048, LOC130058049, LOC130058050, LOC130058051, LOC130058052, LOC130058053, LOC130058054, LOC130058055, LOC130058056, LOC130058057, LOC130058058, LOC130058059, LOC130058060, LOC130058061, LOC130058062, LOC130058063, LOC130058064, LOC130058065, LOC130058066, LOC130058067, LOC130058068, LOC130058069, LOC130058070, LOC130058071, LOC130058072, LOC130058073, LOC130058074, LOC130058075, LOC130058076, LOC130058077, LOC130058078, LOC130058079, LOC130058080, LOC130058081, LOC130058082, LOC132090322, LOC132090323, LOC132090324, LOC132090325, LOC132090326, LOC132090327, LOC132090328, LOC132090329, LOC132090330, LOC132090331, LOC132090332, LOC132090333, LOC132090334, LOC132090335, LOC132090336, LOC132090337, LOC132090338, LOC132090339, LOC132090340, LOC132090341, LOC132090342, LOC132090343, LOC132090344, LOC132090345, LOC132090346, LOC132090347, LOC132090348, LOC132090349, LOC132090350, LOC132090351, LOC132090352, LOC132090353, LOC132090354, LOC132090355, LOC132090356, LOC132090357, LOC132090358, LOC132090359, LOC132090360, LOC132090361, LOC132090362, LOC132090363, LOC132090364, LOC132090365, LOC132090366, LOC132090367, LOC132090368, LOC132090369, LOC132090881, LOC132090882, LOC132090883, LOC132090884, LOC132090885, LOC132090886, LOC283731, LOC91450, LOXL1, LOXL1-AS1, LRRC28, LRRC49, LRRK1, LUNAR1, LYSMD4, MAN2A2, MAN2C1, MAP2K1, MAP2K5, MAP2K5-DT, MCTP2, MEF2A, MEGF11, MESD, MESP1, MESP2, MEX3B, MFGE8, MGC15885, MINAR1, MIR11181, MIR1179, MIR12135, MIR1272, MIR1276, MIR1469, MIR184, MIR190A, MIR3174, MIR3175, MIR3529, MIR3713, MIR422A, MIR4311, MIR4312, MIR4313, MIR4511, MIR4512, MIR4513, MIR4514, MIR4515, MIR4714, MIR5009, MIR5094, MIR548AP, MIR549A, MIR5572, MIR6085, MIR629, MIR630, MIR631, MIR6766, MIR6881, MIR6882, MIR7-2, MIR7706, MIR8067, MIR9-3, MIR9-3HG, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MYO9A, NEIL1, NEO1, NGRN, NMB, NOX5, NPTN, NPTN-IT1, NR2E3, NR2F2, NR2F2-AS1, NRG4, NTRK3, NTRK3-AS1, OAZ2, OR4F15, OR4F6, PAQR5, PAQR5-DT, PARP16, PARP6, PCAT29, PCLAF, PCSK6, PCSK6-AS1, PDCD7, PDE8A, PEAK1, PEX11A, PGPEP1L, PIAS1, PIF1, PIRC76, PKM, PLEKHO2, PLIN1, PML, POLG, POLG-DT, POLGARF, PPCDC, PPIB, PRC1, PRC1-AS1, PSMA4, PSTPIP1, PTPN9, RAB11A, RAB8B, RAMAC, RASGRF1, RASL12, RBPMS2, RCCD1, RCCD1-AS1, RCN2, REC114, RGMA, RHCG, RLBP1, RNU5A-1, RNU5B-1, RNU6-1, RORA, RORA-AS1, RORA-AS2, RPL4, RPLP1, RPP25, RPS17, RPS27L, SALRNA2, SALRNA3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA14, SCARNA15, SEC11A, SELENOS, SEMA4B, SEMA7A, SENP8, SH2D7, SH3GL3, SIN3A, SKIC8, SKOR1, SKOR1-AS1, SLC24A1, SLC28A1, SLC51B, SLCO3A1, SMAD3, SMAD3-AS1, SMAD3-DT, SMAD6, SMASR, SNAPC5, SNHG21, SNORA24B, SNORD13E, SNORD16, SNORD18A, SNORD18B, SNORD18C, SNRPA1, SNRPA1-DT, SNUPN, SNX1, SNX22, SNX33, SPATA41, SPATA8, SPATA8-AS1, SPESP1, SPG21, ST20, ST20-AS1, ST20-MTHFS, ST8SIA2, STARD5, STOML1, STRA6, LOC130057296, LOC130057297, LOC130057298, LOC130057299, LOC130057300, LOC130057301, LOC130057302, LOC130057303, LOC130057304, LOC130057305, LOC130057306, LOC130057307, LOC130057308, LOC130057309, LOC130057310, LOC130057311, LOC130057312, LOC130057313, LOC130057314, LOC130057315, LOC130057316, LOC130057317, LOC130057318, LOC130057319, LOC130057320, LOC130057321, LOC130057322, LOC130057323, LOC130057324, LOC130057325, LOC130057326, LOC130057327, LOC130057328, LOC130057329, LOC130057330, LOC130057331, LOC130057332, LOC130057333, LOC130057334, LOC130057335, LOC130057336, LOC130057337, LOC130057338, LOC130057339, LOC130057340, LOC130057341, LOC130057342, LOC130057343, LOC130057344, LOC130057345, LOC130057346, LOC130057347, LOC130057348, LOC130057349, LOC130057350, LOC130057351, LOC130057352, LOC130057353, LOC130057354, LOC130057355, LOC130057356, LOC130057357, LOC130057358, LOC130057359, LOC130057360, LOC130057361, LOC130057362, LOC130057363, LOC130057364, LOC130057365, LOC130057366, LOC130057367, LOC130057368, LOC130057369, LOC130057370, LOC130057371, LOC130057372, LOC130057373, LOC130057374, LOC130057375, LOC130057376, LOC130057377, LOC130057378, LOC130057379, LOC130057380, LOC130057381, LOC130057382, LOC130057383, LOC130057384, LOC130057385, LOC130057386, LOC130057387, LOC130057388, LOC130057389, LOC130057390, LOC130057391, LOC130057392, LOC130057393, LOC130057394, LOC130057395, LOC130057396, LOC130057397, LOC130057398, LOC130057399, LOC130057400, LOC130057401, LOC130057402, LOC130057403, LOC130057404, LOC130057405, LOC130057406, LOC130057407, LOC130057408, LOC130057409, LOC130057410, LOC130057411, LOC130057412, LOC130057413, LOC130057414, LOC130057415, LOC130057416, LOC130057417, LOC130057418, LOC130057419, LOC130057420, LOC130057421, LOC130057422, LOC130057423, LOC130057424, LOC130057425, LOC130057426, LOC130057427, LOC130057428, LOC130057429, LOC130057430, LOC130057431, LOC130057432, LOC130057433, LOC130057434, LOC130057435, LOC130057436, LOC130057437, LOC130057438, LOC130057439, LOC130057440, LOC130057441, LOC130057442, LOC130057443, LOC130057444, LOC130057445, LOC130057446, LOC130057447, LOC130057448, LOC130057449, LOC130057450, LOC130057451, LOC130057452, LOC130057453, LOC130057454, LOC130057455, LOC130057456, LOC130057457, LOC130057458, LOC130057459, LOC130057460, LOC130057461, LOC130057462, LOC130057463, LOC130057464, LOC130057465, LOC130057466, LOC130057467, LOC130057468, LOC130057469, LOC130057470, LOC130057471, LOC130057472, LOC130057473, LOC130057474, LOC130057475, LOC130057476, LOC130057477, LOC130057478, LOC130057479, LOC130057480, LOC130057481, LOC130057482, LOC130057483, LOC130057484, LOC130057485, LOC130057486, LOC130057487, LOC130057488, LOC130057489, LOC130057490, LOC130057491, LOC130057492, LOC130057493, LOC130057494, LOC130057495, LOC130057496, LOC130057497, LOC130057498, LOC130057499, LOC130057500, LOC130057501, LOC130057502, LOC130057503, LOC130057504, LOC130057505, LOC130057506, LOC130057507, LOC130057508, LOC130057509, LOC130057510, LOC130057511, LOC130057512, LOC130057513, LOC130057514, LOC130057515, LOC130057516, LOC130057517, LOC130057518, LOC130057519, LOC130057520, LOC130057521, LOC130057522, LOC130057523, LOC130057524, LOC130057525, LOC130057526, LOC130057527, LOC130057528, LOC130057529, LOC130057530, LOC130057531, LOC130057532, LOC130057533, LOC130057534, LOC130057535, LOC130057536, LOC130057537, LOC130057538, LOC130057539, LOC130057540, LOC130057541, LOC130057542, LOC130057543, LOC130057544, LOC130057545, LOC130057546, LOC130057547, LOC130057548, LOC130057549, LOC130057550, LOC130057551, LOC130057552, LOC130057553, LOC130057554, LOC130057555, LOC130057556, LOC130057557, LOC130057558, LOC130057559, LOC130057560, LOC130057561, LOC130057562, LOC130057563, LOC130057564, LOC130057565, LOC130057566, LOC130057567, LOC130057568, LOC130057569, LOC130057570, LOC130057571, LOC130057572, LOC130057573, LOC130057574, LOC130057575, LOC130057576, LOC130057577, LOC130057578, LOC130057579, LOC130057580, LOC130057581, LOC130057582, LOC130057583, LOC130057584, LOC130057585, LOC130057586, LOC130057587, LOC130057588, LOC130057589, LOC130057590, LOC130057591, LOC130057592, LOC130057593, LOC130057594, LOC130057595, LOC130057596, LOC130057597, LOC130057598, LOC130057599, LOC130057600, LOC130057601, LOC130057602, LOC130057603, LOC130057604, LOC130057605, LOC130057606, LOC130057607, LOC130057608, LOC130057609, LOC130057610, LOC130057611, LOC130057612, LOC130057613, LOC130057614, LOC130057615, LOC130057616, LOC130057617, LOC130057618, LOC130057619, LOC130057620, LOC130057621, LOC130057622, LOC130057623, LOC130057624, LOC130057625, LOC130057626, LOC130057627, LOC130057628, LOC130057629, LOC130057630, LOC130057631, LOC130057632, LOC130057633, LOC130057634, LOC130057635, LOC130057636, LOC130057637, LOC130057638, LOC130057639, LOC130057640, LOC130057641, LOC130057642, LOC130057643, LOC130057644, LOC130057645, LOC130057646, LOC130057647, LOC130057648, LOC130057649, LOC130057650, LOC130057651, LOC130057652, LOC130057653, LOC130057654, LOC130057655, LOC130057656, LOC130057657, LOC130057658, LOC130057659, LOC130057660, LOC130057661, LOC130057662, LOC130057663, LOC130057664, LOC130057665, LOC130057666, LOC130057667, LOC130057668, LOC130057669, LOC130057670, LOC130057671, LOC130057672, LOC130057673, LOC130057674, LOC130057675, LOC130057676, LOC130057677, LOC130057678, LOC130057679, LOC130057680, LOC130057681, LOC130057682, LOC130057683, LOC130057684, LOC130057685, LOC130057686, LOC130057687, LOC130057688, LOC130057689, LOC130057690, LOC130057691, LOC130057692, LOC130057693, LOC130057694, LOC130057695, LOC130057696, LOC130057697, LOC130057698, LOC130057699, LOC130057700, LOC130057701, LOC130057702, LOC130057703, LOC130057704, LOC130057705, LOC130057706, LOC130057707, LOC130057708, LOC130057709, LOC130057710, LOC130057711, LOC130057712, LOC130057713, LOC130057714, LOC130057715, LOC130057716, LOC130057717, LOC130057718, LOC130057719, LOC130057720, LOC130057721, LOC130057722, LOC130057723, LOC130057724, LOC130057725, LOC130057726, LOC130057727, LOC130057728, LOC130057729, LOC130057730, LOC130057731, LOC130057732, LOC130057733, LOC130057734, LOC130057735, LOC130057736, LOC130057737, LOC130057738, LOC130057739, LOC130057740, LOC130057741, LOC130057742, LOC130057743, LOC130057744, LOC130057745, LOC130057746, LOC130057747, LOC130057748, LOC130057749, LOC130057750, LOC130057751, LOC130057752, LOC130057753, LOC130057754, LOC130057755, LOC130057756, LOC130057757, LOC130057758, LOC130057759, LOC130057760, LOC130057761, LOC130057762, LOC130057763, LOC130057764, LOC130057765, LOC130057766, LOC130057767, LOC130057768, LOC130057769, LOC130057770, LOC130057771, LOC130057772, LOC130057773, LOC130057774, LOC130057775, LOC130057776, LOC130057777, LOC130057778, LOC130057779, LOC130057780, LOC130057781, LOC130057782, LOC130057783, LOC130057784, LOC130057785, LOC130057786, LOC130057787, LOC130057788, LOC130057789, LOC130057790, LOC130057791, LOC130057792, LOC130057793, LOC130057794, LOC130057795, LOC130057796, LOC130057797, LOC130057798, LOC130057799, LOC130057800, LOC130057801, LOC130057802, LOC130057803, LOC130057804, LOC130057805, LOC130057806, LOC130057807, LOC130057808, LOC130057809, LOC130057810, LOC130057811, LOC130057812, LOC130057813, LOC130057814, LOC130057815, IQGAP1, IRAIN, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, KBTBD13, KIF23, KIF23-AS1, KIF7, KLHL25, LACTB, LARP6, LCTL, LETR1, LINC00052, LINC00593, LINC00597, LINC00923, LINC00924, LINC00927, LINC00928, LINC00930, LINC00933, LINC01169, LINC01418, LINC01579, LINC01580, LINC01581, LINC01582, LINC01583, LINC01584, LINC01585, LINC01586, LINC02204, LINC02205, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02255, LINC02259, LINC02348, LINC02349, LINC02351, LINC02568, LINC02883, LINGO1, LINGO1-AS1, LINGO1-AS2, LINS1, LMAN1L, LOC100129540, LOC100507472, LOC101927310, LOC101928850, LOC101928988, LOC101929439, LOC101929457, LOC101929586, LOC102723335, LOC102724034, LOC102724452, LOC102724465, LOC103171574, LOC104613533, LOC105369212, LOC105370890, LOC105370947, LOC105370954, LOC105370973, LOC105370980, LOC105370987, LOC105370993, LOC105370997, LOC105371006, LOC105371017, LOC105371031, LOC107984784, LOC107988046, LOC107992387, LOC108251791, LOC108281191, LOC108964933, LOC110120860, LOC110120861, LOC110120917, LOC110121345, LOC110121383, LOC110121430, LOC110121464, LOC110121491, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC111365216, LOC111413015, LOC111413032, LOC111413043, LOC111562369, LOC111718493, LOC111822949, LOC112272574, LOC112272602, LOC112272603, LOC112272604, LOC112272605, LOC112272606, LOC112272607, LOC112272608, LOC112272609, LOC112272610, LOC112272613, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC112272621, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC113939945, LOC113939946, LOC113939947, LOC114827858, LOC116268467, LOC116268468, LOC116268471, LOC116268472, LOC116268473, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC120285840, LOC121530585, LOC121530586, LOC121530587, LOC121530588, LOC121530589, LOC121530590, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121530595, LOC121530596, LOC121530597, LOC121530598, LOC121530599, LOC121530600, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847953, LOC121847954, LOC121847955, LOC121847956, LOC121847957, LOC121847958, LOC121847959, LOC121847960, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC125078089, LOC125078090, LOC125078091, LOC125078093, LOC125078094, LOC125078095, LOC125078096, LOC125078097, LOC125078098, LOC125078099, LOC125078100, LOC125078101, LOC125078102, LOC125078103, LOC125078104, LOC125110343, LOC125110344, LOC125110345, LOC125110346, LOC125110347, LOC125110348, LOC125110349, LOC125110350, LOC125110351, LOC125110352, LOC125110353, LOC125110354, LOC125110355, LOC125110356, LOC125110357, LOC125138289, LOC125138290, LOC125138291, LOC125138292, LOC125138293, LOC125138294, LOC125138295, LOC125138296, LOC125138297, LOC125138298, LOC125138299, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862143, LOC126862144, LOC126862145, LOC126862146, LOC126862147, LOC126862148, LOC126862149, LOC126862150, LOC126862151, LOC126862152, LOC126862153, LOC126862154, LOC126862155, LOC126862156, LOC126862157, LOC126862158, LOC126862159, LOC126862160, LOC126862161, LOC126862162, LOC126862163, LOC126862164, LOC126862165, LOC126862166, LOC126862167, LOC126862168, LOC126862169, LOC126862170, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC126862183, LOC126862184, LOC126862185, LOC126862186, LOC126862187, LOC126862188, LOC126862189, LOC126862190, LOC126862191, LOC126862192, LOC126862193, LOC126862194, LOC126862195, LOC126862196, LOC126862197, LOC126862198, LOC126862199, LOC126862200, LOC126862201, LOC126862202, LOC126862203, LOC126862204, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LOC128071545, LOC129390711, LOC129390712, LOC129390713, LOC129390714, LOC129390715, LOC129390716, LOC129390717, LOC129390718, LOC129390719, LOC129390720, LOC129390721, LOC129390722, LOC129390723, LOC129390724, LOC129390725, LOC129390726, LOC129390727, LOC129390728, LOC129390729, LOC129390730, LOC129390731, LOC129390732, LOC129390733, LOC129390734, LOC129390735, LOC129390736, LOC129390737, LOC129390738, LOC129390739, LOC129390740, LOC129390741, LOC129390742, LOC129390743, LOC129390744, LOC129390745, LOC129390746, LOC129390747, LOC129390748, LOC129390749, LOC129390750, LOC129390751, LOC129390752, LOC130057188, LOC130057189, LOC130057190, LOC130057191, LOC130057192, LOC130057193, LOC130057194, LOC130057195, LOC130057196, LOC130057197, LOC130057198, LOC130057199, LOC130057200, LOC130057201, LOC130057202, LOC130057203, LOC130057204, LOC130057205, LOC130057206, LOC130057207, LOC130057208, LOC130057209, LOC130057210, LOC130057211, LOC130057212, LOC130057213, LOC130057214, LOC130057215, LOC130057216, LOC130057217, LOC130057218, LOC130057219, LOC130057220, LOC130057221, LOC130057222, LOC130057223, LOC130057224, LOC130057225, LOC130057226, LOC130057227, LOC130057228, LOC130057229, LOC130057230, LOC130057231, LOC130057232, LOC130057233, LOC130057234, LOC130057235, LOC130057236, LOC130057237, LOC130057238, LOC130057239, LOC130057240, LOC130057241, LOC130057242, LOC130057243, LOC130057244, LOC130057245, LOC130057246, LOC130057247, LOC130057248, LOC130057249, LOC130057250, LOC130057251, LOC130057252, LOC130057253, LOC130057254, LOC130057255, LOC130057256, LOC130057257, LOC130057258, LOC130057259, LOC130057260, LOC130057261, LOC130057262, LOC130057263, LOC130057264, LOC130057265, LOC130057266, LOC130057267, LOC130057268, LOC130057269, LOC130057270, LOC130057271, LOC130057272, LOC130057273, LOC130057274, LOC130057275, LOC130057276, LOC130057277, LOC130057278, LOC130057279, LOC130057280, LOC130057281, LOC130057282, LOC130057283, LOC130057284, LOC130057285, LOC130057286, LOC130057287, LOC130057288, LOC130057289, LOC130057290, LOC130057291, LOC130057292, LOC130057293, LOC130057294, LOC130057295, AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, ADPGK-AS1, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANKDD1A, ANKRD34C, ANKRD34C-AS1, ANP32A, ANP32A-IT1, ANPEP, ANXA2, AP3B2, AP3S2, APH1B, ARID3B, ARIH1, ARNT2, ARNT2-DT, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BBS4, BCL2A1, BLM, BNC1, BTBD1, C15orf32, C15orf39, C15orf40, C15orf61, C2CD4A, C2CD4B, CA12, CALML4, CARMAL, CCDC33, CD276, CELF6, CEMIP, CERS3, CERS3-AS1, CFAP161, CHASERR, CHD2, CHRNA3, CHRNA5, CHRNB4, CHSY1, CIAO2A, CIB1, CIB2, CILP, CIMAP1C, CLK3, CLN6, CLPX, COMMD4, CORO2B, COX5A, CPEB1, CPEB1-AS1, CPLX3, CRABP1, CRAT37, CRTC3, CRTC3-AS1, CSK, CSNK1G1, CSPG4, CT62, CTSH, CTXND1, CYP11A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DIS3L-AS1, DNAJA4, DNAJA4-DT, DPP8, DRAIC, EDC3, EFL1, ETFA, EWSAT1, FAH, FAM174B, FAM219B, FANCI, FBXL22, FBXO22, FEM1B, FES, FOXB1, FSD2, FURIN, GCAWKR, GDPGP1, GLCE, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L10, GOLGA6L4, GOLGA6L9, GRAMD2A, HACD3, HAPLN3, HCN4, HDDC3, HDGFL3, HERC1, HEXA, HEXA-AS1, HIGD2B, HMG20A, HOMER2, HYKK, ICE2, IDH2, IDH2-DT, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INSYN1, INSYN1-AS1, INTS14, IQCH, IQCH-AS1, SV2B, SYNM, SYNM-AS1, TARS3, TBC1D21, TBC1D2B, THAP10, THSD4, THSD4-AS1, THSD4-AS2, TICRR, TIPIN, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMC3-AS1, TMED3, TMEM202, TMEM202-AS1, TMEM266, TPM1, TPM1-AS, TRC-GCA5-1, TRIP4, TRK-CTT1-2, TRQ-CTG1-4, TRR-TCG1-1, TSPAN3, TTC23, TTC23-AS1, TTLL13, UACA, UBAP1L, UBE2Q2, UBL7, UBL7-DT, ULK3, UNC45A, USP3, USP3-AS1, VPS13C, VPS13C-DT, VPS33B, VPS33B-DT, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF609, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2, ZWILCH
See casesPathogenic
(Oct 24, 2012)
no assertion criteria provided
2.
GRCh37:
Chr15:66995577-67482894
GRCh38:
Chr15:66703239-67190556
Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Aug 1, 2018)
criteria provided, single submitter
3.
GRCh37:
Chr15:66995577-67358718
GRCh38:
Chr15:66703239-67066380
Aortic valve disease 2, Familial thoracic aortic aneurysm and aortic dissectionConflicting interpretations of pathogenicity
(Jul 15, 2019)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr15:67358213
GRCh38:
Chr15:67065875
SMAD3Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr15:67358228
GRCh38:
Chr15:67065890
SMAD3Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndromeUncertain significance
(Oct 15, 2021)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr15:67358249
GRCh38:
Chr15:67065911
SMAD3Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr15:67358253
GRCh38:
Chr15:67065915
SMAD3Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr15:67358276
GRCh38:
Chr15:67065938
SMAD3Aneurysm-osteoarthritis syndrome, Loeys-Dietz syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr15:67358325
GRCh38:
Chr15:67065987
SMAD3Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr15:67358329
GRCh38:
Chr15:67065991
SMAD3Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndromeUncertain significance
(Oct 11, 2021)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr15:67358354
GRCh38:
Chr15:67066016
SMAD3Aneurysm-osteoarthritis syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr15:67358378
GRCh38:
Chr15:67066040
LOC130057352, SMAD3Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr15:67358393
GRCh38:
Chr15:67066055
LOC130057352, SMAD3Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr15:67358455
GRCh38:
Chr15:67066117
LOC130057352, SMAD3Aneurysm-osteoarthritis syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr15:67358465
GRCh38:
Chr15:67066127
LOC130057352, SMAD3not specified, Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome
Benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr15:67358470
GRCh38:
Chr15:67066132
LOC130057352, SMAD3not specified, Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome
Benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr15:67358475
GRCh38:
Chr15:67066137
LOC130057352, SMAD3not specifiedLikely benign
(Oct 26, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr15:67358476-67358478
GRCh38:
Chr15:67066138-67066140
LOC130057352, SMAD3Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 5, 2020)
criteria provided, single submitter
19.
GRCh37:
Chr15:67358478
GRCh38:
Chr15:67066140
LOC130057352, SMAD3not specified, Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
Benign
(Aug 16, 2019)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr15:67358483
GRCh38:
Chr15:67066145
LOC130057352, SMAD3Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndromeUncertain significance
(Apr 1, 2020)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr15:67358491
GRCh38:
Chr15:67066153
LOC130057352, SMAD3Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Dec 17, 2019)
criteria provided, single submitter
22.
GRCh37:
Chr15:67358492
GRCh38:
Chr15:67066154
LOC130057352, SMAD3not provided, Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Mar 28, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr15:67358493
GRCh38:
Chr15:67066155
LOC130057352, SMAD3M1VAortic aneurysmPathogeniccriteria provided, single submitter
24.
GRCh37:
Chr15:67358493
GRCh38:
Chr15:67066155
LOC130057352, SMAD3M1LFamilial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndromePathogenic/Likely pathogenic
(Feb 24, 2021)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr15:67358493
GRCh38:
Chr15:67066155
LOC130057352, SMAD3M1LFamilial thoracic aortic aneurysm and aortic dissectionLikely pathogenic
(Apr 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr15:67358495
GRCh38:
Chr15:67066157
LOC130057352, SMAD3M1IFamilial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndromePathogenic/Likely pathogenic
(Sep 11, 2020)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr15:67358497
GRCh38:
Chr15:67066159
LOC130057352, SMAD3S2WFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 27, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr15:67358497
GRCh38:
Chr15:67066159
LOC130057352, SMAD3S2*not provided, Familial thoracic aortic aneurysm and aortic dissectionPathogenic/Likely pathogenic
(Apr 12, 2021)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr15:67358498
GRCh38:
Chr15:67066160
LOC130057352, SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Sep 10, 2020)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr15:67358501
GRCh38:
Chr15:67066163
LOC130057352, SMAD3Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotypeLikely benign
(Apr 15, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr15:67358504
GRCh38:
Chr15:67066166
LOC130057352, SMAD3Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndromeConflicting interpretations of pathogenicity
(Aug 11, 2021)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr15:67358507
GRCh38:
Chr15:67066169
LOC130057352, SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Sep 9, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr15:67358509
GRCh38:
Chr15:67066171
LOC130057352, SMAD3P6Lnot providedUncertain significance
(Feb 9, 2014)
criteria provided, single submitter
34.
GRCh37:
Chr15:67358513
GRCh38:
Chr15:67066175
LOC130057352, SMAD3F7fsFamilial thoracic aortic aneurysm and aortic dissectionPathogenic
(Feb 22, 2019)
criteria provided, single submitter
35.
GRCh37:
Chr15:67358515
GRCh38:
Chr15:67066177
LOC130057352, SMAD3T8SFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr15:67358516-67358517
GRCh38:
Chr15:67066178-67066179
LOC130057352, SMAD3I11fsFamilial thoracic aortic aneurysm and aortic dissectionPathogenic
(May 2, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr15:67358519
GRCh38:
Chr15:67066181
LOC130057352, SMAD3Familial thoracic aortic aneurysm and aortic dissectionBenign/Likely benign
(May 17, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr15:67358520
GRCh38:
Chr15:67066182
LOC130057352, SMAD3P10ABroad distal phalanx of the thumbLikely pathogenic
(Jan 11, 2023)
no assertion criteria provided
39.
GRCh37:
Chr15:67358522
GRCh38:
Chr15:67066184
LOC130057352, SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Sep 2, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr15:67358522
GRCh38:
Chr15:67066184
LOC130057352, SMAD3not providedLikely benign
(Aug 1, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr15:67358526
GRCh38:
Chr15:67066188
LOC130057352, SMAD3V12LFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr15:67358528
GRCh38:
Chr15:67066190
LOC130057352, SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(May 22, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr15:67358528
GRCh38:
Chr15:67066190
LOC130057352, SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr15:67358537
GRCh38:
Chr15:67066199
SMAD3not specified, Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jun 10, 2023)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr15:67358538
GRCh38:
Chr15:67066200
SMAD3L16VFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jan 5, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr15:67358540
GRCh38:
Chr15:67066202
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 9, 2018)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr15:67358543
GRCh38:
Chr15:67066205
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 11, 2020)
criteria provided, single submitter
48.
GRCh37:
Chr15:67358545
GRCh38:
Chr15:67066207
SMAD3not provided, Familial thoracic aortic aneurysm and aortic dissectionPathogenic/Likely pathogenic
(Mar 6, 2019)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr15:67358548
GRCh38:
Chr15:67066210
SMAD3K19RFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 29, 2020)
criteria provided, single submitter
50.
GRCh37:
Chr15:67358549
GRCh38:
Chr15:67066211
SMAD3K19Nnot providedUncertain significance
(Jan 24, 2023)
criteria provided, single submitter
51.
GRCh37:
Chr15:67358552
GRCh38:
Chr15:67066214
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 11, 2020)
criteria provided, single submitter
52.
GRCh37:
Chr15:67358555
GRCh38:
Chr15:67066217
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr15:67358555
GRCh38:
Chr15:67066217
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Dec 1, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr15:67358556
GRCh38:
Chr15:67066218
SMAD3E22Knot providedUncertain significance
(May 4, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr15:67358556-67358557
GRCh38:
Chr15:67066218-67066219
SMAD3N24fsFamilial thoracic aortic aneurysm and aortic dissectionPathogenic
(Jul 11, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr15:67358558
GRCh38:
Chr15:67066220
SMAD3Familial thoracic aortic aneurysm and aortic dissection, not specified, Ehlers-Danlos syndrome,
Loeys-Dietz syndrome
Benign/Likely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr15:67358561
GRCh38:
Chr15:67066223
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jan 30, 2019)
criteria provided, single submitter
58.
GRCh37:
Chr15:67358563
GRCh38:
Chr15:67066225
SMAD3N24SFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 19, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr15:67358564
GRCh38:
Chr15:67066226
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jun 19, 2020)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr15:67358564
GRCh38:
Chr15:67066226
SMAD3N24KFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr15:67358566
GRCh38:
Chr15:67066228
SMAD3G25Vnot provided, Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 29, 2023)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr15:67358569-67358571
GRCh38:
Chr15:67066231-67066233
SMAD3E28delFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Apr 23, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr15:67358573
GRCh38:
Chr15:67066235
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(May 27, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr15:67358574
GRCh38:
Chr15:67066236
SMAD3E28*not provided, Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Jun 16, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr15:67358586
GRCh38:
Chr15:67066248
SMAD3E32*Isolated thoracic aortic aneurysmLikely pathogenic
(Sep 1, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr15:67358592
GRCh38:
Chr15:67066254
SMAD3A34TAneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 14, 2021)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr15:67358593
GRCh38:
Chr15:67066255
SMAD3A34EFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 22, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr15:67358594
GRCh38:
Chr15:67066256
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(May 29, 2023)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr15:67358594-67358605
GRCh38:
Chr15:67066256-67066267
SMAD3not provided, Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Apr 30, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr15:67358601
GRCh38:
Chr15:67066263
SMAD3S37fsFamilial thoracic aortic aneurysm and aortic dissectionPathogenic
(Apr 23, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr15:67358602
GRCh38:
Chr15:67066264
SMAD3S37IFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Feb 23, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr15:67358602-67358607
GRCh38:
Chr15:67066264-67066269
SMAD3not provided, Familial thoracic aortic aneurysm and aortic dissectionConflicting interpretations of pathogenicity
(Jul 10, 2023)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr15:67358607
GRCh38:
Chr15:67066269
SMAD3V39LFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr15:67358609
GRCh38:
Chr15:67066271
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 12, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr15:67358609
GRCh38:
Chr15:67066271
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Aug 1, 2020)
criteria provided, single submitter
76.
GRCh37:
Chr15:67358611
GRCh38:
Chr15:67066273
SMAD3K40Rnot providedUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr15:67358615
GRCh38:
Chr15:67066277
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(May 30, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr15:67358618
GRCh38:
Chr15:67066280
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Sep 9, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr15:67358627
GRCh38:
Chr15:67066289
SMAD3Q47fsFamilial thoracic aortic aneurysm and aortic dissectionPathogenic
(Nov 27, 2019)
criteria provided, single submitter
80.
GRCh37:
Chr15:67358629
GRCh38:
Chr15:67066291
SMAD3G46Enot providedUncertain significance
(Jun 2, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr15:67358630
GRCh38:
Chr15:67066292
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Mar 8, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr15:67358637
GRCh38:
Chr15:67066299
SMAD3D49YFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 12, 2019)
criteria provided, single submitter
83.
GRCh37:
Chr15:67358639
GRCh38:
Chr15:67066301
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jan 5, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr15:67358640
GRCh38:
Chr15:67066302
SMAD3E50Knot providedUncertain significance
(May 7, 2015)
criteria provided, single submitter
85.
GRCh37:
Chr15:67358644
GRCh38:
Chr15:67066306
SMAD3L51PFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Sep 29, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr15:67358644
GRCh38:
Chr15:67066306
SMAD3L51RFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Dec 4, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr15:67358645
GRCh38:
Chr15:67066307
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(May 29, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr15:67358645
GRCh38:
Chr15:67066307
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jan 31, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr15:67358646
GRCh38:
Chr15:67066308
SMAD3E52*not provided, Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Dec 15, 2020)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr15:67358649
GRCh38:
Chr15:67066311
SMAD3K53EFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr15:67358652
GRCh38:
Chr15:67066314
SMAD3A54TFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr15:67358654-67358668
GRCh38:
Chr15:67066316-67066330
SMAD3Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr15:67358655
GRCh38:
Chr15:67066317
SMAD3I55FFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Apr 20, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr15:67358657
GRCh38:
Chr15:67066319
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Dec 29, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr15:67358659
GRCh38:
Chr15:67066321
SMAD3T56Snot providedUncertain significance
(Oct 13, 2023)
criteria provided, single submitter
96.
GRCh37:
Chr15:67358661
GRCh38:
Chr15:67066323
SMAD3T57PLoeys-Dietz syndromeUncertain significance
(May 12, 2015)
criteria provided, single submitter
97.
GRCh37:
Chr15:67358662
GRCh38:
Chr15:67066324
SMAD3T57RAneurysm-osteoarthritis syndromeUncertain significance
(Sep 25, 2023)
criteria provided, single submitter
98.
GRCh37:
Chr15:67358662
GRCh38:
Chr15:67066324
SMAD3T57KFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 13, 2021)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr15:67358667
GRCh38:
Chr15:67066329
SMAD3N59DFamilial thoracic aortic aneurysm and aortic dissection, not specifiedUncertain significance
(Apr 17, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr15:67358669
GRCh38:
Chr15:67066331
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jul 29, 2022)
criteria provided, single submitter
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