U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 8439

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:66097-55797773
GRCh38:
Chr2:66097-55570637
LOC129933242, LOC129933243, LOC129933244, LOC129933245, LOC129933246, LOC129933247, LOC129933248, LOC129933249, LOC129933250, LOC129933251, LOC129933252, LOC129933253, LOC129933254, LOC129933255, LOC129933256, LOC129933257, LOC129933258, LOC129933259, LOC129933260, LOC129933261, LOC129933262, LOC129933263, LOC129933264, LOC129933265, LOC129933266, LOC129933267, LOC129933268, LOC129933269, LOC129933270, LOC129933271, LOC129933272, LOC129933273, LOC129933274, LOC129933275, LOC129933276, LOC129933277, LOC129933278, LOC129933279, LOC129933280, LOC129933281, LOC129933282, LOC129933283, LOC129933284, LOC129933285, LOC129933286, LOC129933287, LOC129933288, LOC129933289, LOC129933290, LOC129933291, LOC129933292, LOC129933293, LOC129933294, LOC129933295, LOC129933296, LOC129933297, LOC129933298, LOC129933299, LOC129933300, LOC129933301, LOC129933302, LOC129933303, LOC129933304, LOC129933305, LOC129933306, LOC129933307, LOC129933308, LOC129933309, LOC129933310, LOC129933311, LOC129933312, LOC129933313, LOC129933314, LOC129933315, LOC129933316, LOC129933317, LOC129933318, LOC129933319, LOC129933320, LOC129933321, LOC129933322, LOC129933323, LOC129933324, LOC129933325, LOC129933326, LOC129933327, LOC129933328, LOC129933329, LOC129933330, LOC129933331, LOC129933332, LOC129933333, LOC129933334, LOC129933335, LOC129933336, LOC129933337, LOC129933338, LOC129933339, LOC129933340, LOC129933341, LOC129933342, LOC129933343, LOC129933344, LOC129933345, LOC129933346, LOC129933347, LOC129933348, LOC129933349, LOC129933350, LOC129933351, LOC129933352, LOC129933353, LOC129933354, LOC129933355, LOC129933356, LOC129933357, LOC129933358, LOC129933359, LOC129933360, LOC129933361, LOC129933362, LOC129933363, LOC129933364, LOC129933365, LOC129933366, LOC129933367, LOC129933368, LOC129933369, LOC129933370, LOC129933371, LOC129933372, LOC129933373, LOC129933374, LOC129933375, LOC129933376, LOC129933377, LOC129933378, LOC129933379, LOC129933380, LOC129933381, LOC129933382, LOC129933383, LOC129933384, LOC129933385, LOC129933386, LOC129933387, LOC129933388, LOC129933389, LOC129933390, LOC129933391, LOC129933392, LOC129933393, LOC129933394, LOC129933395, LOC129933396, LOC129933397, LOC129933398, LOC129933399, LOC129933400, LOC129933401, LOC129933402, LOC129933403, LOC129933404, LOC129933405, LOC129933406, LOC129933407, LOC129933408, LOC129933409, LOC129933410, LOC129933411, LOC129933412, LOC129933413, LOC129933414, LOC129933415, LOC129933416, LOC129933417, LOC129933418, LOC129933419, LOC129933420, LOC129933421, LOC129933422, LOC129933423, LOC129933424, LOC129933425, LOC129933426, LOC129933427, LOC129933428, LOC129933429, LOC129933430, LOC129933431, LOC129933432, LOC129933433, LOC129933434, LOC129933435, LOC129933436, LOC129933437, LOC129933438, LOC129933439, LOC129933440, LOC129933441, LOC129933442, LOC129933443, LOC129933444, LOC129933445, LOC129933446, LOC129933447, LOC129933448, LOC129933449, LOC129933450, LOC129933451, LOC129933452, LOC129933453, LOC129933454, LOC129933455, LOC129933456, LOC129933457, LOC129933458, LOC129933459, LOC129933460, LOC129933461, LOC129933462, LOC129933463, LOC129933464, LOC129933465, LOC129933466, LOC129933467, LOC129933468, LOC129933469, LOC129933470, LOC129933471, LOC129933472, LOC129933473, LOC129933474, LOC129933475, LOC129933476, LOC129933477, LOC129933478, LOC129933479, LOC129933480, LOC129933481, LOC129933482, LOC129933483, LOC129933484, LOC129933485, LOC129933486, LOC129933487, LOC129933488, LOC129933489, LOC129933490, LOC129933491, LOC129933492, LOC129933493, LOC129933494, LOC129933495, LOC129933496, LOC129933497, LOC129933498, LOC129933499, LOC129933500, LOC129933501, LOC129933502, LOC129933503, LOC129933504, LOC129933505, LOC129933506, LOC129933507, LOC129933508, LOC129933509, LOC129933510, LOC129933511, LOC129933512, LOC129933513, LOC129933514, LOC129933515, LOC129933516, LOC129933518, LOC129933519, LOC129933520, LOC129933521, LOC129933522, LOC129933523, LOC129933524, LOC129933525, LOC129933526, LOC129933527, LOC129933528, LOC129933529, LOC129933530, LOC129933531, LOC129933532, LOC129933533, LOC129933534, LOC129933535, LOC129933536, LOC129933537, LOC129933538, LOC129933539, LOC129933540, LOC129933541, LOC129933542, LOC129933543, LOC129933544, LOC129933545, LOC129933546, LOC129933547, LOC129933548, LOC129933549, LOC129933550, LOC129933551, LOC129933552, LOC129933553, LOC129933554, LOC129933555, LOC129933556, LOC129933557, LOC129933558, LOC129933559, LOC129933560, LOC129933561, LOC129933562, LOC129933563, LOC129933564, LOC129933565, LOC129933566, LOC129933567, LOC129933568, LOC129933569, LOC129933570, LOC129933571, LOC129933572, LOC129933573, LOC129933574, LOC129933575, LOC129933576, LOC129933577, LOC129933578, LOC129933579, LOC129933580, LOC129933581, LOC129933582, LOC129933583, LOC129933584, LOC129933585, LOC129933586, LOC129933587, LOC129933588, LOC129933589, LOC129933590, LOC129933591, LOC129933592, LOC129933593, LOC129933594, LOC129933595, LOC129933596, LOC129933597, LOC129933598, LOC129933599, LOC129933600, LOC129933601, LOC129933602, LOC129933603, LOC129933604, LOC129933605, LOC129933606, LOC129933607, LOC129933608, LOC129933609, LOC129933610, LOC129933611, LOC129933612, LOC129933613, LOC129933614, LOC129933615, LOC129933616, LOC129933617, LOC129933618, LOC129933619, LOC129933620, LOC129933621, LOC129933622, LOC129933623, LOC129933624, LOC129933625, LOC129933626, LOC129933627, LOC129933628, LOC129933629, LOC129933630, LOC129933631, LOC129933632, LOC129933633, LOC129933634, LOC129933635, LOC129933636, LOC129933637, LOC129933638, LOC129933639, LOC129933640, LOC129933641, LOC129933642, LOC129933643, LOC129933644, LOC129933645, LOC129933646, LOC129933647, LOC129933648, LOC129933649, LOC129933650, LOC129933651, LOC129933652, LOC129933653, LOC129933654, LOC129933655, LOC129933656, LOC129933657, LOC129933658, LOC129933659, LOC129933660, LOC129933661, LOC129933662, LOC129933663, LOC129933664, LOC129933665, LOC129933666, LOC129933667, LOC129933668, LOC129933669, LOC129933670, LOC129933671, LOC129933672, LOC129933673, LOC129933674, LOC129933675, LOC129933676, LOC129933677, LOC129933678, LOC129933679, LOC129933680, LOC129933681, LOC129933682, LOC129933683, LOC129933684, LOC129933685, LOC129933686, LOC129933687, LOC129933688, LOC129933689, LOC129933690, LOC129933691, LOC129933692, LOC129933693, LOC129933694, LOC129933695, LOC129933696, LOC129933697, LOC129933698, LOC129933699, LOC129933700, LOC129933701, LOC129933702, LOC129933703, LOC129933704, LOC129933705, LOC129933706, LOC129933707, LOC129933708, LOC129933709, LOC129933710, LOC129933711, LOC129933712, LOC129933713, LOC129933714, LOC129933715, LOC129933716, LOC129933717, LOC129933718, LOC129933719, LOC129933720, LOC129933721, LOC129933722, LOC129933723, LOC129933724, LOC129933725, LOC129933726, LOC129933727, LOC129933728, LOC129933729, LOC129933730, LOC129933731, LOC129933732, LOC129933733, LOC129933734, LOC129933735, LOC129933736, LOC129933737, LOC129933738, LOC129933739, LOC129933740, LOC129933741, LOC129933742, LOC129933743, LOC129933744, LOC129933745, LOC129933746, LOC129933747, LOC129933748, LOC129933749, LOC129933750, LOC129933751, LOC129933752, LOC129933753, LOC129933754, ABCG5, ABCG8, ABHD1, ACP1, ACYP2, ADAM17, ADCY3, ADGRF3, ADI1, AGBL5, AGBL5-AS1, ALK, ALKAL2, ALLC, APOB, APOB-ICR, APOB3'MAR, ARHGEF33, ASAP2, ASB3, ASXL2, ATAD2B, ATL2, ATP6V1C2, ATP6V1E2, ATRAID, BABAM2, BABAM2-AS1, BCYRN1, BIRC6, BIRC6-AS2, C1GALT1C1L, C2orf48, C2orf50, C2orf73, CAD, CALM2, CAMKMT, CAPN13, CAPN14, CCDC121, CCDC88A, CDC42EP3, CDKL4, CEBPZ, CEBPZOS, CENPA, CENPO, CFAP36, CGREF1, CHAC2, CIB4, CIMIP2C, CLHC1, CLIP4, CMPK2, COLEC11, COX7A2L, CPSF3, CRIM1, CRIM1-DT, CRIPT, CYP1B1, CYP1B1-AS1, CYRIA, CYS1, DCDC2C, DDX1, DHX57, DNAJC27, DNAJC27-AS1, DNAJC5G, DNMT3A, DPY30, DPYSL5, DRC1, DTNB, DTNB-AS1, DYNC2LI1, E2F6, EFR3B, EHD3, EIF2AK2, EIF2B4, EIPR1, EMILIN1, EML4, EML4-AS1, EML6, EML6-AS1, EPAS1, EPCAM, EPCAM-DT, ERLEC1, FAM228A, FAM228B, FAM98A, FBXO11, FEZ2, FKBP1B, FLJ33534, FNDC4, FOSL2, FOSL2-AS1, FOXN2, FSHR, GACAT3, GALM, GALNT14, GAREM2, GCKR, GDF7, GEMIN6, GEN1, GPATCH11, GPN1, GPR75, GPR75-ASB3, GRASLND, GREB1, GRHL1, GTF2A1L, GTF3C2, GTF3C2-AS1, GTF3C2-AS2, HAAO, HADHA, HADHB, HEATR5B, HNRNPLL, HPCAL1, HS1BP3, HS1BP3-IT1, IAH1, ID2, ID2-AS1, IFT172, ITGB1BP1, ITSN2, KCNF1, KCNG3, KCNK12, KCNK3, KCNS3, KHK, KIDINS220, KIF3C, KLF11, KLF11-DT, KLHL29, KRTCAP3, LAPTM4A, LAPTM4A-DT, LBH, LCLAT1, LDAH, LHCGR, LINC00276, LINC00298, LINC00299, LINC00486, LINC00487, LINC00570, LINC00954, LINC01115, LINC01118, LINC01119, LINC01121, LINC01126, LINC01246, LINC01247, LINC01248, LINC01249, LINC01250, LINC01304, LINC01317, LINC01318, LINC01320, LINC01376, LINC01381, LINC01460, LINC01794, LINC01804, LINC01808, LINC01810, LINC01814, LINC01819, LINC01820, LINC01822, LINC01830, LINC01833, LINC01865, LINC01867, LINC01871, LINC01874, LINC01875, LINC01883, LINC01884, LINC01913, LINC01914, LINC01936, LINC01939, LINC01946, LINC01954, LINC02580, LINC02583, LINC02613, LINC02850, LINC02898, LINC02923, LINC03063, LOC100271832, LOC100505716, LOC100505736, LOC100505774, LOC100506235, LOC100506274, LOC100506405, LOC100506474, LOC100507562, LOC100996637, LOC101928196, LOC101929452, LOC101929551, LOC101929752, LOC102723530, LOC102723730, LOC105369165, LOC105373346, LOC105373352, LOC105373390, LOC105373394, LOC105373414, LOC105373418, LOC105373438, LOC105373461, LOC105374378, LOC105374389, LOC106560211, LOC106728414, LOC107457596, LOC107985792, LOC107985856, LOC108167315, LOC108281152, LOC110120598, LOC110120665, LOC110120696, LOC110121045, LOC110121071, LOC110121085, LOC110121122, LOC110121127, LOC110121131, LOC110121222, LOC110121235, LOC110121308, LOC110599580, LOC111465020, LOC111556161, LOC111776219, LOC111776220, LOC111811968, LOC111828513, LOC112806042, LOC112806072, LOC112840907, LOC112840916, LOC112840917, LOC112840921, LOC112840922, LOC112840923, LOC112840924, LOC112840925, LOC112840926, LOC112840927, LOC112840929, LOC112840930, LOC112840931, LOC112840932, LOC112840935, LOC112840936, LOC112840937, LOC112840938, LOC112840939, LOC112840940, LOC112840941, LOC112840942, LOC112840943, LOC112841579, LOC112841580, LOC112841600, LOC112841604, LOC112841605, LOC114004370, LOC114004371, LOC114004372, LOC114827832, LOC114827839, LOC115804257, LOC115804258, LOC115804259, LOC115804260, LOC115804261, LOC115945147, LOC115945149, LOC115945150, LOC115945151, LOC115945152, LOC115945153, LOC115945154, LOC115945155, LOC115945156, LOC115945157, LOC115945158, LOC120961741, LOC120961742, LOC120961743, LOC120961744, LOC120961745, LOC120961746, LOC120961747, LOC120961748, LOC120961749, LOC120961750, LOC120961751, LOC120961752, LOC120961753, LOC120961754, LOC120961755, LOC120961756, LOC120961757, LOC120961758, LOC121725077, LOC121725078, LOC121725079, LOC121725080, LOC121725081, LOC121725082, LOC121725083, LOC121725084, LOC121725085, LOC121725086, LOC121725087, LOC121725088, LOC121725089, LOC121725090, LOC122710286, LOC122710287, LOC122710288, LOC122710289, LOC122756371, LOC122756372, LOC122756373, LOC122756374, LOC122756375, LOC122756376, LOC122756377, LOC122756378, LOC122756379, LOC122756380, LOC122756381, LOC122756382, LOC122756383, LOC122756384, LOC122756385, LOC122756386, LOC122756387, LOC122756388, LOC122756389, LOC122756390, LOC122756391, LOC122756392, LOC122756393, LOC122756667, LOC122756668, LOC122756669, LOC122756670, LOC122756671, LOC122756672, LOC122756673, LOC122756674, LOC122756675, LOC122756676, LOC122756677, LOC122756678, LOC122756679, LOC122756680, LOC122756681, LOC122756682, LOC122756683, LOC122756684, LOC122756685, LOC122756686, LOC122756687, LOC122756688, LOC122756689, LOC122756690, LOC122756691, LOC122757916, LOC122757917, LOC122757918, LOC122757919, LOC122757920, LOC122757921, LOC122757922, LOC122757923, LOC122757924, LOC122757925, LOC122757926, LOC122757927, LOC122757928, LOC122757929, LOC122757930, LOC122757931, LOC122757932, LOC122757933, LOC122757934, LOC122757935, LOC122757936, LOC122757937, LOC122757938, LOC122757939, LOC122757940, LOC122757941, LOC122757942, LOC122757943, LOC122757944, LOC122757945, LOC126264115, LOC126806091, LOC126806092, LOC126806093, LOC126806094, LOC126806095, LOC126806096, LOC126806097, LOC126806098, LOC126806099, LOC126806100, LOC126806101, LOC126806102, LOC126806103, LOC126806104, LOC126806105, LOC126806106, LOC126806107, LOC126806108, LOC126806109, LOC126806110, LOC126806111, LOC126806112, LOC126806113, LOC126806114, LOC126806115, LOC126806116, LOC126806117, LOC126806118, LOC126806119, LOC126806120, LOC126806121, LOC126806122, LOC126806123, LOC126806124, LOC126806125, LOC126806126, LOC126806127, LOC126806128, LOC126806129, LOC126806130, LOC126806131, LOC126806132, LOC126806133, LOC126806134, LOC126806135, LOC126806136, LOC126806137, LOC126806138, LOC126806139, LOC126806140, LOC126806141, LOC126806142, LOC126806143, LOC126806144, LOC126806145, LOC126806146, LOC126806147, LOC126806148, LOC126806149, LOC126806150, LOC126806151, LOC126806152, LOC126806153, LOC126806154, LOC126806155, LOC126806156, LOC126806157, LOC126806158, LOC126806159, LOC126806160, LOC126806161, LOC126806162, LOC126806163, LOC126806164, LOC126806165, LOC126806166, LOC126806167, LOC126806168, LOC126806169, LOC126806170, LOC126806171, LOC126806172, LOC126806173, LOC126806174, LOC126806175, LOC126806176, LOC126806177, LOC126806178, LOC126806179, LOC126806180, LOC126806181, LOC126806182, LOC126806183, LOC126806184, LOC126806185, LOC126806186, LOC126806187, LOC126806188, LOC126806189, LOC126806190, LOC126806191, LOC126806192, LOC126806193, LOC126806194, LOC126806195, LOC126806196, LOC126806197, LOC126806198, LOC126806199, LOC126806200, LOC126806201, LOC126806202, LOC126806203, LOC126806204, LOC126806205, LOC126806206, LOC126806207, LOC126806208, LOC126806209, LOC126806210, LOC126806211, LOC126806212, LOC126806213, LOC126806214, LOC126806215, LOC126806216, LOC126806217, LOC126806218, LOC126806219, LOC126806220, LOC126806221, LOC128772246, LOC128772247, LOC128772248, LOC128772249, LOC128772250, LOC128772251, LOC128772252, LOC128772253, LOC128772254, LOC128897170, LOC128897171, LOC129388814, LOC129388815, LOC129388816, LOC129388817, LOC129388818, LOC129388819, LOC129388820, LOC129388821, LOC129388822, LOC129388823, LOC129388824, LOC129388825, LOC129388826, LOC129388827, LOC129388828, LOC129388829, LOC129388830, LOC129388831, LOC129388832, LOC129388833, LOC129388834, LOC129388835, LOC129388836, LOC129388837, LOC129388838, LOC129388839, LOC129388840, LOC129388841, LOC129388842, LOC129388843, LOC129388844, LOC129388845, LOC129388846, LOC129388847, LOC129388848, LOC129388849, LOC129388850, LOC129388851, LOC129388852, LOC129388853, LOC129388854, LOC129388855, LOC129388856, LOC129388857, LOC129388858, LOC129388859, LOC129388860, LOC129388861, LOC129456127, LOC129932973, LOC129932974, LOC129932975, LOC129932976, LOC129932977, LOC129932978, LOC129932979, LOC129932980, LOC129932981, LOC129932982, LOC129932983, LOC129932984, LOC129932985, LOC129932986, LOC129932987, LOC129932988, LOC129932989, LOC129932990, LOC129932991, LOC129932992, LOC129932993, LOC129932994, LOC129932995, LOC129932996, LOC129932997, LOC129932998, LOC129932999, LOC129933000, LOC129933001, LOC129933002, LOC129933003, LOC129933004, LOC129933005, LOC129933006, LOC129933007, LOC129933008, LOC129933009, LOC129933010, LOC129933011, LOC129933012, LOC129933013, LOC129933014, LOC129933015, LOC129933016, LOC129933017, LOC129933018, LOC129933019, LOC129933020, LOC129933021, LOC129933022, LOC129933023, LOC129933024, LOC129933025, LOC129933026, LOC129933027, LOC129933028, LOC129933029, LOC129933030, LOC129933031, LOC129933032, LOC129933033, LOC129933034, LOC129933035, LOC129933036, LOC129933037, LOC129933038, LOC129933039, LOC129933040, LOC129933041, LOC129933042, LOC129933043, LOC129933044, LOC129933045, LOC129933046, LOC129933047, LOC129933048, LOC129933049, LOC129933050, LOC129933051, LOC129933052, LOC129933053, LOC129933054, LOC129933055, LOC129933056, LOC129933057, LOC129933058, LOC129933059, LOC129933060, LOC129933061, LOC129933062, LOC129933063, LOC129933064, LOC129933065, LOC129933066, LOC129933067, LOC129933068, LOC129933069, LOC129933070, LOC129933071, LOC129933072, LOC129933073, LOC129933074, LOC129933075, LOC129933076, LOC129933077, LOC129933078, LOC129933079, LOC129933080, LOC129933081, LOC129933082, LOC129933083, LOC129933084, LOC129933085, LOC129933086, LOC129933087, LOC129933088, LOC129933089, LOC129933090, LOC129933091, LOC129933092, LOC129933093, LOC129933094, LOC129933095, LOC129933096, LOC129933097, LOC129933098, LOC129933099, LOC129933100, LOC129933101, LOC129933102, LOC129933103, LOC129933104, LOC129933105, LOC129933106, LOC129933107, LOC129933108, LOC129933109, LOC129933110, LOC129933111, LOC129933112, LOC129933113, LOC129933114, LOC129933115, LOC129933116, LOC129933117, LOC129933118, LOC129933119, LOC129933120, LOC129933121, LOC129933122, LOC129933123, LOC129933124, LOC129933125, LOC129933126, LOC129933127, LOC129933128, LOC129933129, LOC129933130, LOC129933131, LOC129933132, LOC129933133, LOC129933134, LOC129933135, LOC129933136, LOC129933137, LOC129933138, LOC129933139, LOC129933140, LOC129933141, LOC129933142, LOC129933143, LOC129933144, LOC129933145, LOC129933146, LOC129933147, LOC129933148, LOC129933149, LOC129933150, LOC129933151, LOC129933152, LOC129933153, LOC129933154, LOC129933155, LOC129933156, LOC129933157, LOC129933158, LOC129933159, LOC129933160, LOC129933161, LOC129933162, LOC129933163, LOC129933164, LOC129933165, LOC129933166, LOC129933167, LOC129933168, LOC129933169, LOC129933170, LOC129933171, LOC129933172, LOC129933173, LOC129933174, LOC129933175, LOC129933176, LOC129933177, LOC129933178, LOC129933179, LOC129933180, LOC129933181, LOC129933182, LOC129933183, LOC129933184, LOC129933185, LOC129933186, LOC129933187, LOC129933188, LOC129933189, LOC129933190, LOC129933191, LOC129933192, LOC129933193, LOC129933194, LOC129933195, LOC129933196, LOC129933197, LOC129933198, LOC129933199, LOC129933200, LOC129933201, LOC129933202, LOC129933203, LOC129933204, LOC129933205, LOC129933206, LOC129933207, LOC129933208, LOC129933209, LOC129933210, LOC129933211, LOC129933212, LOC129933213, LOC129933214, LOC129933215, LOC129933216, LOC129933217, LOC129933218, LOC129933219, LOC129933220, LOC129933221, LOC129933222, LOC129933223, LOC129933224, LOC129933225, LOC129933226, LOC129933227, LOC129933228, LOC129933229, LOC129933230, LOC129933231, LOC129933232, LOC129933233, LOC129933234, LOC129933235, LOC129933236, LOC129933237, LOC129933238, LOC129933239, LOC129933240, LOC129933241, LOC129933755, LOC129933756, LOC129933757, LOC129933758, LOC129933759, LOC129933760, LOC129933761, LOC129933762, LOC129933763, LOC129933764, LOC129933765, LOC129933766, LOC129933767, LOC132088754, LOC132088755, LOC132088756, LOC132088757, LOC132088838, LOC132088839, LOC132088840, LOC132088841, LOC132088842, LOC132088843, LOC132088844, LOC132088845, LOC132088846, LOC132088847, LOC132088849, LOC375196, LOC400940, LOC653602, LPIN1, LRATD1, LRPPRC, LTBP1, MAP4K3, MAP4K3-DT, MAPRE3, MAPRE3-AS1, MATN3, MBOAT2, MCFD2, MEMO1, MFSD2B, MIR1301, MIR3125, MIR3681, MIR3681HG, MIR3682, MIR4261, MIR4262, MIR4263, MIR4429, MIR4430, MIR4431, MIR4757, MIR4765, MIR548AD, MIR548BA, MIR548S, MIR558, MIR559, MIR7158, MIR7515, MIR7515HG, MIR8485, MORN2, MPV17, MRPL33, MSGN1, MSH2, MSH2-OT1, MSH6, MTA3, MTIF2, MYCN, MYCNOS, MYCNUT, NOL10, MYT1L, MYT1L-AS1, NBAS, NCOA1, NDUFAF7, NLRC4, NRBP1, NRIR, NRXN1, NRXN1-DT, NT5C1B, NT5C1B-RDH14, NTSR2, ODC1, ODC1-DT, OSR1, OST4, OTOF, OXER1, PCARE, PDIA6, PFN4, PIGF, PIRAT1, PKDCC, PLB1, PLEKHH2, POMC, PPM1B, PPM1B-DT, PPM1G, PPP1CB, PPP1R21, PPP4R3B, PREB, PREPL, PRKCE, PRKCE-AS1, PRKD3, PRKD3-DT, PRR30, PSME4, PTRHD1, PUM2, PXDN, QPCT, RAB10, RAD51AP2, RASGRP3, RASGRP3-AS1, RBKS, RDH14, RHOB, RHOQ, RHOQ-AS1, RMDN2, RMDN2-AS1, RNASEH1, RNASEH1-DT, RNF144A, ROCK2, RPS27A, RPS7, RRM2, RSAD2, RTN4, SDC1, SELENOI, SF3B6, SH3YL1, SILC1, SIX2, SIX3, SIX3-AS1, SLC30A3, SLC30A6, SLC30A6-DT, SLC35F6, SLC3A1, SLC4A1AP, SLC5A6, SLC66A3, SLC8A1, SLC8A1-AS1, SMC6, SNORA10B, SNORA80B, SNORD53, SNORD53B, SNORD92, SNTG2, SNTG2-AS1, SNX17, SOCS5, SOS1, SOS1-IT1, SOX11, SPAST, SPATA31H1, SPDYA, SPTBN1, SPTBN1-AS1, SPTBN1-AS2, SRBD1, SRD5A2, SRSF7, STON1, STON1-GTF2A1L, STPG4, STRN, SULT6B1, SUPT7L, TAF1B, TCF23, TDRD15, THADA, THUMPD2, TMEM178A, TMEM18, TMEM18-DT, TMEM214, TMEM247, TOGARAM2, TP53I3, TPO, TRA-AGC8-1, TRAPPC12, TRAPPC12-AS1, TRI-TAT2-1, TRIB2, TRIM54, TRMT61B, TRY-GTA2-1, TSPYL6, TTC27, TTC32, TTC7A, UBXN2A, UCN, VIT, VSNL1, WDCP, WDR35, WDR35-DT, WDR43, XDH, YIPF4, YPEL5, YWHAQ, ZFP36L2, ZNF512, ZNF513
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr2:7635254-88005418
GRCh38:
Chr2:7495123-87705899
LOC129933044, LOC129933045, LOC129933046, LOC129933047, LOC129933048, LOC129933049, LOC129933050, LOC129933051, LOC129933052, LOC129933053, LOC129933054, LOC129933055, LOC129933056, LOC129933057, LOC129933058, LOC129933059, LOC129933060, LOC129933061, LOC129933062, LOC129933063, LOC129933064, LOC129933065, LOC129933066, LOC129933067, LOC129933068, LOC129933069, LOC129933070, LOC129933071, LOC129933072, LOC129933073, LOC129933074, LOC129933075, LOC129933076, LOC129933077, LOC129933078, LOC129933079, LOC129933080, LOC129933081, LOC129933082, LOC129933083, LOC129933084, LOC129933085, LOC129933086, LOC129933087, LOC129933088, LOC129933089, LOC129933090, LOC129933091, LOC129933092, LOC129933093, LOC129933094, LOC129933095, LOC129933096, LOC129933097, LOC129933098, LOC129933099, LOC129933100, LOC129933101, LOC129933102, LOC129933103, LOC129933104, LOC129933105, LOC129933106, LOC129933107, LOC129933108, LOC129933109, LOC129933110, LOC129933111, LOC129933112, LOC129933113, LOC129933114, LOC129933115, LOC129933116, LOC129933117, LOC129933118, LOC129933119, LOC129933120, LOC129933121, LOC129933122, LOC129933123, LOC129933124, LOC129933125, LOC129933126, LOC129933127, LOC129933128, LOC129933129, LOC129933130, LOC129933131, LOC129933132, LOC129933133, LOC129933134, LOC129933135, LOC129933136, LOC129933137, LOC129933138, LOC129933139, LOC129933140, LOC129933141, LOC129933142, LOC129933143, LOC129933144, LOC129933145, LOC129933146, LOC129933147, LOC129933148, LOC129933149, LOC129933150, LOC129933151, LOC129933152, LOC129933153, LOC129933154, LOC129933155, LOC129933156, LOC129933157, LOC129933158, LOC129933159, LOC129933160, LOC129933161, LOC129933162, LOC129933163, LOC129933164, LOC129933165, LOC129933166, LOC129933167, LOC129933168, LOC129933169, LOC129933170, LOC129933171, LOC129933172, LOC129933173, LOC129933174, LOC129933175, LOC129933176, LOC129933177, LOC129933178, LOC129933179, LOC129933180, LOC129933181, LOC129933182, LOC129933183, LOC129933184, LOC129933185, LOC129933186, LOC129933187, LOC129933188, LOC129933189, LOC129933190, LOC129933191, LOC129933192, LOC129933193, LOC129933194, LOC129933195, LOC129933196, LOC129933197, LOC129933198, LOC129933199, LOC129933200, LOC129933201, LOC129933202, LOC129933203, LOC129933204, LOC129933205, LOC129933206, LOC129933207, LOC129933208, LOC129933209, LOC129933210, LOC129933211, LOC129933212, LOC129933213, LOC129933214, LOC129933215, LOC129933216, LOC129933217, LOC129933218, LOC129933219, LOC129933220, LOC129933221, LOC129933222, LOC129933223, LOC129933224, LOC129933225, LOC129933226, LOC129933227, LOC129933228, LOC129933229, LOC129933230, LOC129933231, LOC129933232, LOC129933233, LOC129933234, LOC129933235, LOC129933236, LOC129933237, LOC129933238, LOC129933239, LOC129933240, LOC129933241, LOC129933242, LOC129933243, LOC129933244, LOC129933245, LOC129933246, LOC129933247, LOC129933248, LOC129933249, LOC129933250, LOC129933251, LOC129933252, LOC129933253, LOC129933254, LOC129933255, LOC129933256, LOC129933257, LOC129933258, LOC129933259, LOC129933260, LOC129933261, LOC129933262, LOC129933263, LOC129933264, LOC129933265, LOC129933266, LOC129933267, LOC129933268, LOC129933269, LOC129933270, LOC129933271, LOC129933272, LOC129933273, LOC129933274, LOC129933275, LOC129933276, LOC129933277, LOC129933278, LOC129933279, LOC129933280, LOC129933281, LOC129933282, LOC129933283, LOC129933284, LOC129933285, LOC129933286, LOC129933287, LOC129933288, LOC129933289, LOC129933290, LOC129933291, LOC129933292, LOC129933293, LOC129933294, LOC129933295, LOC129933296, LOC129933297, LOC129933298, LOC129933299, LOC129933300, LOC129933301, LOC129933302, LOC129933303, LOC129933304, LOC129933305, LOC129933306, LOC129933307, LOC129933308, LOC129933309, LOC129933310, LOC129933311, LOC129933312, LOC129933313, LOC129933314, LOC129933315, LOC129933316, LOC129933317, LOC129933318, LOC129933319, LOC129933320, LOC129933321, LOC129933322, LOC129933323, LOC129933324, LOC129933325, LOC129933326, LOC129933327, LOC129933328, LOC129933329, LOC129933330, LOC129933331, LOC129933332, LOC129933333, LOC129933334, LOC129933335, LOC129933336, LOC129933337, LOC129933338, LOC129933339, LOC129933340, LOC129933341, LOC129933342, LOC129933343, LOC129933344, LOC129933345, LOC129933346, LOC129933347, LOC129933348, LOC129933349, LOC129933350, LOC129933351, LOC129933352, LOC129933353, LOC129933354, LOC129933355, LOC129933356, LOC129933357, LOC129933358, LOC129933359, LOC129933360, LOC129933361, LOC129933362, LOC129933363, LOC129933364, LOC129933365, LOC129933366, LOC129933367, LOC129933368, LOC129933369, LOC129933370, LOC129933371, LOC129933372, LOC129933373, LOC129933374, LOC129933375, LOC129933376, LOC129933377, LOC129933378, LOC129933379, LOC129933380, LOC129933381, LOC129933382, LOC129933383, LOC129933384, LOC129933385, LOC129933386, LOC129933387, LOC129933388, LOC129933389, LOC129933390, LOC129933391, LOC129933392, LOC129933393, LOC129933394, LOC129933395, LOC129933396, LOC129933397, LOC129933398, LOC129933399, LOC129933400, LOC129933401, LOC129933402, LOC129933403, LOC129933404, LOC129933405, LOC129933406, LOC129933407, LOC129933408, LOC129933409, LOC129933410, LOC129933411, LOC129933412, LOC129933413, LOC129933414, LOC129933415, LOC129933416, LOC129933417, LOC129933418, LOC129933419, LOC129933420, LOC129933421, LOC129933422, LOC129933423, LOC129933424, LOC129933425, LOC129933426, LOC129933427, LOC129933428, LOC129933429, LOC129933430, LOC129933431, LOC129933432, LOC129933433, LOC129933434, LOC129933435, LOC129933436, LOC129933437, LOC129933438, LOC129933439, LOC129933440, LOC129933441, LOC129933442, LOC129933443, LOC129933444, LOC129933445, LOC129933446, LOC129933447, LOC129933448, LOC129933449, LOC129933450, LOC129933451, LOC129933452, LOC129933453, LOC129933454, LOC129933455, LOC129933456, LOC129933457, LOC129933458, LOC129933459, LOC129933460, LOC129933461, LOC129933462, LOC129933463, LOC129933464, LOC129933465, LOC129933466, LOC129933467, LOC129933468, LOC129933469, LOC129933470, LOC129933471, LOC129933472, LOC129933473, LOC129933474, LOC129933475, LOC129933476, LOC129933477, LOC129933478, LOC129933479, LOC129933480, LOC129933481, LOC129933482, LOC129933483, LOC129933484, LOC129933485, LOC129933486, LOC129933487, LOC129933488, LOC129933489, LOC129933490, LOC129933491, LOC129933492, LOC129933493, LOC129933494, LOC129933495, LOC129933496, LOC129933497, LOC129933498, LOC129933499, LOC129933500, LOC129933501, LOC129933502, LOC129933503, LOC129933504, LOC129933505, LOC129933506, LOC129933507, LOC129933508, LOC129933509, LOC129933510, LOC129933511, LOC129933512, LOC129933513, LOC129933514, LOC129933515, LOC129933516, LOC129933518, LOC129933519, LOC129933520, LOC129933521, LOC129933522, LOC129933523, LOC129933524, LOC129933525, LOC129933526, LOC129933527, LOC129933528, LOC129933529, LOC129933530, LOC129933531, LOC129933532, LOC129933533, LOC129933534, LOC129933535, LOC129933536, LOC129933537, LOC129933538, LOC129933539, LOC129933540, LOC129933541, LOC129933542, LOC129933543, LOC129933544, LOC129933545, LOC129933546, LOC129933547, LOC129933548, LOC129933549, LOC129933550, LOC129933551, LOC129933552, LOC129933553, LOC129933554, LOC129933555, LOC129933556, LOC107985792, LOC107985856, LOC108021854, LOC108021855, LOC108167315, LOC108281131, LOC108281152, LOC110120598, LOC110120611, LOC110120665, LOC110120667, LOC110120668, LOC110120669, LOC110120696, LOC110120746, LOC110120767, LOC110120782, LOC110120811, LOC110120817, LOC110120967, LOC110120978, LOC110120979, LOC110120980, LOC110120997, LOC110121003, LOC110121008, LOC110121015, LOC110121018, LOC110121024, LOC110121039, LOC110121045, LOC110121071, LOC110121121, LOC110121122, LOC110121131, LOC110121136, LOC110121178, LOC110121222, LOC110121235, LOC110121243, LOC110121268, LOC110121308, LOC110599580, LOC111258501, LOC111258509, LOC111258516, LOC111258517, LOC111258518, LOC111258520, LOC111465020, LOC111556161, LOC111776219, LOC111776220, LOC111828513, LOC112806042, LOC112806072, LOC112840907, LOC112840916, LOC112840917, LOC112840921, LOC112840922, LOC112840923, LOC112840924, LOC112840925, LOC112840926, LOC112840927, LOC112840929, LOC112840930, LOC112840931, LOC112840932, LOC112840935, LOC112840936, LOC112840937, LOC112840938, LOC112840939, LOC112840940, LOC112840941, LOC112840942, LOC112840943, LOC112841579, LOC112841580, LOC112841582, LOC112841589, LOC112841592, LOC112841595, LOC112841596, LOC112841597, LOC112841598, LOC112841599, LOC112841600, LOC112841601, LOC112841602, LOC112841603, LOC112841604, LOC112841605, LOC114004370, LOC114004372, LOC114004373, LOC114827832, LOC114827836, LOC114827839, LOC115804257, LOC115804258, LOC115804259, LOC115804260, LOC115804261, LOC115945147, LOC115945149, LOC115945150, LOC115945151, LOC115945152, LOC115945153, LOC115945154, LOC115945155, LOC115945156, LOC115945157, LOC115945158, LOC115945159, LOC115945160, LOC115945161, LOC115945162, LOC115945164, LOC115945183, LOC120961742, LOC120961743, LOC120961744, LOC120961745, LOC120961746, LOC120961747, LOC120961748, LOC120961749, LOC120961750, LOC120961751, LOC120961752, LOC120961753, LOC120961754, LOC120961755, LOC120961756, LOC120961757, LOC120961758, LOC120961759, LOC120961760, LOC120961761, LOC120961762, LOC120961763, LOC120961764, LOC120961765, LOC120961766, LOC120961767, LOC120961768, LOC121725079, LOC121725080, LOC121725081, LOC121725082, LOC121725083, LOC121725084, LOC121725085, LOC121725086, LOC121725087, LOC121725088, LOC121725089, LOC121725090, LOC121725091, LOC121725092, LOC121725093, LOC121725094, LOC121725095, LOC121725096, LOC121725097, LOC122710289, LOC122756371, LOC122756372, LOC122756373, LOC122756374, LOC122756375, LOC122756376, LOC122756377, LOC122756378, LOC122756379, LOC122756380, LOC122756381, LOC122756382, LOC122756383, LOC122756384, LOC122756385, LOC122756386, LOC122756387, LOC122756388, LOC122756389, LOC122756390, LOC122756391, LOC122756392, LOC122756393, LOC122756667, LOC122756668, LOC122756669, LOC122756670, LOC122756671, LOC122756672, LOC122756673, LOC122756674, LOC122756675, LOC122756676, LOC122756677, LOC122756678, LOC122756679, LOC122756680, LOC122756681, LOC122756682, LOC122756683, LOC122756684, LOC122756685, LOC122756686, LOC122756687, LOC122756688, LOC122756689, LOC122756690, LOC122756691, LOC122757916, LOC122757917, LOC122757918, LOC122757919, LOC122757920, LOC122757921, LOC122757922, LOC122757923, LOC122757924, LOC122757925, LOC122757926, LOC122757927, LOC122757928, LOC122757929, LOC122757930, LOC122757931, LOC122757932, LOC122757933, LOC122757934, LOC122757935, LOC122757936, LOC122757937, LOC122757938, LOC122757939, LOC122757940, LOC122757941, LOC122757942, LOC122757943, LOC122757944, LOC122757945, LOC122757946, LOC122757947, LOC122757948, LOC122757949, LOC122757950, LOC122757951, LOC122757952, LOC122757953, LOC122757954, LOC122757955, LOC122757956, LOC122757957, LOC122757958, LOC122757959, LOC122757960, LOC122757961, LOC122757962, LOC122757963, LOC122757964, LOC122757965, LOC122757966, LOC122787130, LOC122787131, LOC122787132, LOC122787133, LOC122787134, LOC122787135, LOC122787136, LOC122787137, LOC122787138, LOC122787139, LOC122787140, LOC122787141, LOC122787142, LOC122787143, LOC122787144, LOC122787145, LOC122787146, LOC122787147, LOC122787148, LOC126264115, LOC126806123, LOC126806124, LOC126806125, LOC126806126, LOC126806127, LOC126806128, LOC126806129, LOC126806130, LOC126806131, LOC126806132, LOC126806133, LOC126806134, LOC126806135, LOC126806136, LOC126806137, LOC126806138, LOC126806139, LOC126806140, LOC126806141, LOC126806142, LOC126806143, LOC126806144, LOC126806145, LOC126806146, LOC126806147, LOC126806148, LOC126806149, LOC126806150, LOC126806151, LOC126806152, LOC126806153, LOC126806154, LOC126806155, LOC126806156, LOC126806157, LOC126806158, LOC126806159, LOC126806160, LOC126806161, LOC126806162, LOC126806163, LOC126806164, LOC126806165, LOC126806166, LOC126806167, LOC126806168, LOC126806169, LOC126806170, LOC126806171, LOC126806172, LOC126806173, LOC126806174, LOC126806175, LOC126806176, LOC126806177, LOC126806178, LOC126806179, LOC126806180, LOC126806181, LOC126806182, LOC126806183, LOC126806184, LOC126806185, LOC126806186, LOC126806187, LOC126806188, LOC126806189, LOC126806190, LOC126806191, LOC126806192, LOC126806193, LOC126806194, LOC126806195, LOC126806196, LOC126806197, LOC126806198, LOC126806199, LOC126806200, LOC126806201, LOC126806202, LOC126806203, LOC126806204, LOC126806205, LOC126806206, LOC126806207, LOC126806208, LOC126806209, LOC126806210, LOC126806211, LOC126806212, LOC126806213, LOC126806214, LOC126806215, LOC126806216, LOC126806217, LOC126806218, LOC126806219, LOC126806220, LOC126806221, LOC126806222, LOC126806223, LOC126806224, LOC126806225, LOC126806226, LOC126806227, LOC126806228, LOC126806229, LOC126806230, LOC126806231, LOC126806232, LOC126806233, LOC126806234, LOC126806235, LOC126806236, LOC126806237, LOC126806238, LOC126806239, LOC126806240, LOC126806241, LOC126806242, LOC126806243, LOC126806244, LOC126806245, LOC126806246, LOC126806247, LOC126806248, LOC126806249, LOC126806250, LOC126806251, LOC126806252, LOC126806253, LOC126806254, LOC126806255, LOC126806256, LOC126806257, LOC126806258, LOC126806259, LOC126806260, LOC126806261, LOC126806262, LOC126806263, LOC126806264, LOC126806265, LOC126806266, LOC128772246, LOC128772247, LOC128772248, LOC128772249, LOC128772250, LOC128772251, LOC128772252, LOC128772253, LOC128772254, LOC128897170, LOC128897171, LOC129388817, LOC129388818, LOC129388819, LOC129388820, LOC129388821, LOC129388822, LOC129388823, LOC129388824, LOC129388825, LOC129388826, LOC129388827, LOC129388828, LOC129388829, LOC129388830, LOC129388831, LOC129388832, LOC129388833, LOC129388834, LOC129388835, LOC129388836, LOC129388837, LOC129388838, LOC129388839, LOC129388840, LOC129388841, LOC129388842, LOC129388843, LOC129388844, LOC129388845, LOC129388846, LOC129388847, LOC129388848, LOC129388849, LOC129388850, LOC129388851, LOC129388852, LOC129388853, LOC129388854, LOC129388855, LOC129388856, LOC129388857, LOC129388858, LOC129388859, LOC129388860, LOC129388861, LOC129388862, LOC129388863, LOC129388864, LOC129388865, LOC129388866, LOC129388867, LOC129388868, LOC129388869, LOC129388870, LOC129388871, LOC129388872, LOC129388873, LOC129388874, LOC129388875, LOC129388876, LOC129388877, LOC129388878, LOC129388879, LOC129388880, LOC129388881, LOC129388882, LOC129388883, LOC129388884, LOC129388885, LOC129388886, LOC129388887, LOC129456127, LOC129933025, LOC129933026, LOC129933027, LOC129933028, LOC129933029, LOC129933030, LOC129933031, LOC129933032, LOC129933033, LOC129933034, LOC129933035, LOC129933036, LOC129933037, LOC129933038, LOC129933039, LOC129933040, LOC129933041, LOC129933042, LOC129933043, YIPF4, YPEL5, YWHAQ, ZFP36L2, ZNF512, ZNF513, ZNF638, AAK1, ABCG5, ABCG8, ABHD1, ACTG2, ACTR2, ACYP2, ADAM17, ADCY3, ADD2, ADGRF3, AFTPH, AFTPH-DT, AGBL5, AGBL5-AS1, ALK, ALMS1, ALMS1-IT1, ANKRD53, ANTXR1, ANXA4, APLF, APOB, APOB-ICR, APOB3'MAR, ARHGAP25, ARHGEF33, ASAP2, ASB3, ASPRV1, ASXL2, ATAD2B, ATL2, ATOH8, ATP6V1B1, ATP6V1B1-AS1, ATP6V1C2, ATP6V1E2, ATRAID, AUP1, B3GNT2, BABAM2, BABAM2-AS1, BCL11A, BCYRN1, BIRC6, BIRC6-AS2, BMP10, BOLA3, BOLA3-DT, C1D, C1GALT1C1L, C2orf42, C2orf48, C2orf50, C2orf68, C2orf73, C2orf74, C2orf74-AS1, C2orf74-DT, C2orf78, C2orf81, CAD, CALM2, CAMKMT, CAPG, CAPN13, CAPN14, CCDC121, CCDC142, CCDC85A, CCDC88A, CCT4, CCT7, CD207, CD8A, CD8B, CDC42EP3, CDKL4, CEBPZ, CEBPZOS, CENPA, CENPO, CEP68, CFAP36, CGREF1, CHAC2, CHMP3, CHMP3-AS1, CIB4, CIMIP2C, CLEC4F, CLHC1, CLIP4, CNRIP1, COMMD1, COX7A2L, CPSF3, CRIM1, CRIM1-DT, CRIPT, CTNNA2, CTNNA2-AS1, CYP1B1, CYP1B1-AS1, CYP26B1, CYRIA, CYS1, CYTOR, DCTN1, DCTN1-AS1, DDX1, DGUOK, DGUOK-AS1, DHX57, DNAAF10, DNAH6, DNAJC27, DNAJC27-AS1, DNAJC5G, DNMT3A, DOK1, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTNB-AS1, DUSP11, DYNC2LI1, DYSF, E2F6, EFEMP1, EFR3B, EGR4, EHBP1, EHBP1-AS1, EHD3, EIF2AK2, EIF2B4, ELMOD3, EMILIN1, EML4, EML4-AS1, EML6, EML6-AS1, EMX1, EPAS1, EPCAM, EPCAM-DT, ERLEC1, ETAA1, EVA1A, EVA1A-AS, EXOC6B, FAM136A, FAM161A, FAM228A, FAM228B, FAM98A, FANCL, FBXO11, FBXO41, FBXO48, FEZ2, FIGLA, FKBP1B, FLJ33534, FNDC4, FOSL2, FOSL2-AS1, FOXN2, FSHR, GACAT3, GALM, GALNT14, GAREM2, GCFC2, GCKR, GDF7, GEMIN6, GEN1, GFPT1, GGCX, GKN1, GKN2, GMCL1, GNLY, GPATCH11, GPN1, GPR75, GPR75-ASB3, GREB1, GRHL1, GTF2A1L, GTF3C2, GTF3C2-AS1, GTF3C2-AS2, HAAO, HADHA, HADHB, HCNR606, HCNR617, HEATR5B, HHC2:065915, HHC2:065944, HHC2:066104, HHC2:066522, HHC2:066588, HHC2:066628, HHC2:066644, HHC2:066650, HHC2:066659, HHC2:066683, HHC2:067347, HK2, HK2-DT, HNRNPLL, HPCAL1, HS1BP3, HS1BP3-IT1, HTRA2, IAH1, ID2, ID2-AS1, IFT172, IMMT, INO80B, INO80B-WBP1, ITGB1BP1, ITSN2, KCMF1, KCNF1, KCNG3, KCNK12, KCNK3, KCNS3, KDM3A, KHK, KIDINS220, KIF3C, KLF11, KLF11-DT, KLHL29, KRTCAP3, LAPTM4A, LAPTM4A-DT, LBH, LBX2, LBX2-AS1, LCLAT1, LDAH, LGALSL, LHCGR, LINC00276, LINC00298, LINC00299, LINC00309, LINC00486, LINC00570, LINC00954, LINC01118, LINC01119, LINC01121, LINC01122, LINC01126, LINC01143, LINC01291, LINC01293, LINC01317, LINC01318, LINC01320, LINC01376, LINC01381, LINC01460, LINC01628, LINC01793, LINC01794, LINC01795, LINC01797, LINC01798, LINC01799, LINC01800, LINC01804, LINC01805, LINC01808, LINC01809, LINC01812, LINC01813, LINC01814, LINC01815, LINC01816, LINC01819, LINC01820, LINC01822, LINC01828, LINC01829, LINC01830, LINC01833, LINC01851, LINC01867, LINC01871, LINC01873, LINC01883, LINC01884, LINC01888, LINC01890, LINC01913, LINC01914, LINC01936, LINC01943, LINC01946, LINC01954, LINC01964, LINC02245, LINC02576, LINC02579, LINC02580, LINC02583, LINC02613, LINC02831, LINC02850, LINC02898, LINC02923, LINC02934, LINC03050, LINC03063, LOC100129434, LOC100271832, LOC100505716, LOC100505736, LOC100505774, LOC100506235, LOC100506405, LOC100506474, LOC100507006, LOC100507562, LOC101927661, LOC101927723, LOC101927948, LOC101927967, LOC101928196, LOC101929551, LOC101929752, LOC102723530, LOC102724542, LOC102724579, LOC105369165, LOC105373414, LOC105373418, LOC105373438, LOC105373461, LOC105374378, LOC105374389, LOC105374769, LOC105374780, LOC105374809, LOC105374811, LOC105374820, LOC106560211, LOC106699567, LOC106728414, LOC106783498, LOC106783504, LOC107457596, LOC107984043, LOC129934069, LOC129934070, LOC129934071, LOC129934072, LOC129934073, LOC129934074, LOC129934075, LOC129934076, LOC129934077, LOC129934078, LOC129934079, LOC129934080, LOC129934081, LOC129934082, LOC129934083, LOC129934084, LOC129934085, LOC129934086, LOC129934087, LOC129934088, LOC129934089, LOC129934090, LOC129934091, LOC129934092, LOC129934093, LOC129934094, LOC129934095, LOC129934096, LOC129934097, LOC129934098, LOC129934099, LOC129934100, LOC129934101, LOC129934102, LOC129934103, LOC129934104, LOC129934105, LOC129934106, LOC129934107, LOC129934108, LOC129934109, LOC129934110, LOC129934111, LOC129934112, LOC129934113, LOC129934114, LOC129934115, LOC129934116, LOC129934117, LOC129934118, LOC129934119, LOC129934120, LOC129934121, LOC129934122, LOC129934123, LOC129934124, LOC129934125, LOC129934126, LOC129934127, LOC129934128, LOC129934129, LOC129934130, LOC129934131, LOC129934132, LOC129934133, LOC129934134, LOC129934135, LOC129934136, LOC129934137, LOC129934138, LOC129934139, LOC129934140, LOC129934141, LOC129934142, LOC129934143, LOC129934144, LOC129934145, LOC129934146, LOC129934147, LOC129934148, LOC129934149, LOC129934150, LOC129934151, LOC129934152, LOC129934153, LOC129934154, LOC129934155, LOC129934156, LOC129934157, LOC129934158, LOC129934159, LOC129934160, LOC129934161, LOC129934162, LOC129934163, LOC129934164, LOC129934165, LOC129934166, LOC129934167, LOC129934168, LOC129934169, LOC129934170, LOC129934171, LOC129934172, LOC129934173, LOC129934174, LOC129934175, LOC129934176, LOC129934177, LOC129934178, LOC129934179, LOC129934180, LOC129934181, LOC129934182, LOC129934183, LOC129934184, LOC129934185, LOC129934186, LOC129934187, LOC129934188, LOC129934189, LOC129934190, LOC129934191, LOC129934192, LOC129934193, LOC129934194, LOC129934195, LOC129934196, LOC129934197, LOC129934198, LOC129934199, LOC129934200, LOC129934201, LOC129934202, LOC129934203, LOC129934204, LOC129934205, LOC129934206, LOC129934207, LOC129934208, LOC129934209, LOC129934210, LOC129934211, LOC129934212, LOC129934213, LOC129934214, LOC129934215, LOC129934216, LOC129934217, LOC129934218, LOC129934219, LOC129934220, LOC129934221, LOC129934222, LOC129934223, LOC129934224, LOC129934225, LOC129934226, LOC129934227, LOC129934228, LOC129934229, LOC129934230, LOC129934231, LOC129934232, LOC129934233, LOC129934234, LOC129934235, LOC129934236, LOC129934237, LOC129934238, LOC129934239, LOC129934240, LOC129934241, LOC129934242, LOC129934243, LOC129934244, LOC129934245, LOC129934246, LOC129934247, LOC129934248, LOC129934249, LOC129934250, LOC129934251, LOC129934252, LOC129934253, LOC129934254, LOC129934255, LOC129934256, LOC129934257, LOC129934258, LOC129934259, LOC129934260, LOC129934261, LOC129934262, LOC129934263, LOC129934264, LOC129934265, LOC129934266, LOC129934267, LOC132088754, LOC132088755, LOC132088756, LOC132088757, LOC132088838, LOC132088840, LOC132088845, LOC132088847, LOC132088848, LOC132088850, LOC132088851, LOC132088852, LOC132088853, LOC132088854, LOC132088855, LOC132088856, LOC132090678, LOC132090679, LOC284950, LOC375196, LOC653602, LOXL3, LPIN1, LRATD1, LRPPRC, LRRTM1, LRRTM4, LRRTM4-AS1, LTBP1, M1AP, MAP4K3, MAP4K3-DT, MAPRE3, MAPRE3-AS1, MAT2A, MATN3, MBOAT2, MCEE, MCFD2, MDH1, MEIS1, MEIS1-AS2, MEIS1-AS3, MEMO1, MFSD2B, MIR1285-2, MIR1301, MIR216A, MIR216B, MIR217, MIR217HG, MIR3125, MIR3126, MIR3681, MIR3681HG, MIR3682, MIR4261, MIR4262, MIR4263, MIR4264, MIR4429, MIR4430, MIR4431, MIR4432, MIR4432HG, MIR4433A, MIR4433B, MIR4434, MIR4435-1, MIR4757, MIR4765, MIR4771-1, MIR4778, MIR4779, MIR5000, MIR5192, MIR548AD, MIR548BA, MIR548S, MIR558, MIR559, MIR6071, MIR8080, MIR8485, MOB1A, MOGS, MORN2, MPHOSPH10, MPV17, MRPL19, MRPL33, MRPL35, MRPL53, MSGN1, MSH2, MSH2-OT1, MSH6, MTA3, MTHFD2, MTIF2, MXD1, MYCN, MYCNOS, MYCNUT, NAGK, NAT8, NAT8B, NBAS, NCAL1, NCOA1, NDUFAF7, NFU1, NLRC4, NOL10, NOTO, NRBP1, NRXN1, NRXN1-DT, NT5C1B, NT5C1B-RDH14, NTSR2, ODC1, ODC1-DT, OSR1, OST4, OTOF, OTX1, OXER1, PAIP2B, PAPOLG, PARTICL, PCARE, PCBP1, PCBP1-AS1, PCGF1, PCYOX1, PDIA6, PELI1, PEX13, PFN4, PIGF, PIRAT1, PKDCC, PLB1, PLEK, PLEKHH2, PLGLB1, PNO1, PNPT1, POLE4, POLR1A, POMC, PPM1B, PPM1B-DT, PPM1G, PPP1CB, PPP1R21, PPP3R1, PPP4R3B, PPP4R3B-DT, PRADC1, PREB, PREPL, PRKCE, PRKCE-AS1, PRKD3, PRKD3-DT, PROKR1, PRR30, PSME4, PTCD3, PTRHD1, PUM2, PUS10, QPCT, RAB10, RAB11FIP5, RAB1A, RAD51AP2, RASGRP3, RASGRP3-AS1, RBKS, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, REL-DT, RETSAT, RGPD1, RHOB, RHOQ, RHOQ-AS1, RMDN2, RMDN2-AS1, RMND5A, RNF103, RNF103-CHMP3, RNF181, ROCK2, RPS27A, RRM2, RTKN, RTN4, SANBR, SDC1, SELENOI, SEMA4F, SERTAD2, SF3B6, SFTPB, SFXN5, SH2D6, SIX2, SIX3, SIX3-AS1, SLC1A4, SLC30A3, SLC30A6, SLC30A6-DT, SLC35F6, SLC3A1, SLC4A1AP, SLC4A5, SLC5A6, SLC66A3, SLC8A1, SLC8A1-AS1, SMANTIS, SMC6, SMYD5, SNAR-H, SNORA10B, SNORA36C, SNORA70B, SNORA80B, SNORD53, SNORD53B, SNORD92, SNORD94, SNRNP27, SNRPG, SNX17, SOCS5, SOS1, SOS1-IT1, SPAST, SPATA31H1, SPDYA, SPR, SPRED2, SPTBN1, SPTBN1-AS1, SPTBN1-AS2, SRBD1, SRD5A2, SRSF7, ST3GAL5, ST3GAL5-AS1, STAMBP, STON1, STON1-GTF2A1L, STPG4, STRN, SUCLG1, SULT6B1, SUPT7L, TACR1, TAF1B, TCF23, TCF7L1, TCF7L1-IT1, TDRD15, TET3, TEX261, TGFA, TGFA-IT1, TGOLN2, THADA, THUMPD2, TIA1, TLX2, TMEM150A, TMEM17, TMEM178A, TMEM214, TMEM247, TMSB10, TOGARAM2, TP53I3, TPRKB, TRA-AGC8-1, TRABD2A, TRG-CCC2-1, TRI-TAT2-1, TRIB2, TRIM54, TRMT61B, TRY-GTA2-1, TSPYL6, TTC27, TTC31, TTC32, TTC7A, UBXN2A, UCN, UGP2, USP34, USP34-DT, USP39, VAMP5, VAMP8, VAX2, VIT, VPS54, VRK2, VSNL1, WBP1, WDCP, WDPCP, WDR35, WDR35-DT, WDR43, WDR54, XDH, XPO1, LOC129933557, LOC129933558, LOC129933559, LOC129933560, LOC129933561, LOC129933562, LOC129933563, LOC129933564, LOC129933565, LOC129933566, LOC129933567, LOC129933568, LOC129933569, LOC129933570, LOC129933571, LOC129933572, LOC129933573, LOC129933574, LOC129933575, LOC129933576, LOC129933577, LOC129933578, LOC129933579, LOC129933580, LOC129933581, LOC129933582, LOC129933583, LOC129933584, LOC129933585, LOC129933586, LOC129933587, LOC129933588, LOC129933589, LOC129933590, LOC129933591, LOC129933592, LOC129933593, LOC129933594, LOC129933595, LOC129933596, LOC129933597, LOC129933598, LOC129933599, LOC129933600, LOC129933601, LOC129933602, LOC129933603, LOC129933604, LOC129933605, LOC129933606, LOC129933607, LOC129933608, LOC129933609, LOC129933610, LOC129933611, LOC129933612, LOC129933613, LOC129933614, LOC129933615, LOC129933616, LOC129933617, LOC129933618, LOC129933619, LOC129933620, LOC129933621, LOC129933622, LOC129933623, LOC129933624, LOC129933625, LOC129933626, LOC129933627, LOC129933628, LOC129933629, LOC129933630, LOC129933631, LOC129933632, LOC129933633, LOC129933634, LOC129933635, LOC129933636, LOC129933637, LOC129933638, LOC129933639, LOC129933640, LOC129933641, LOC129933642, LOC129933643, LOC129933644, LOC129933645, LOC129933646, LOC129933647, LOC129933648, LOC129933649, LOC129933650, LOC129933651, LOC129933652, LOC129933653, LOC129933654, LOC129933655, LOC129933656, LOC129933657, LOC129933658, LOC129933659, LOC129933660, LOC129933661, LOC129933662, LOC129933663, LOC129933664, LOC129933665, LOC129933666, LOC129933667, LOC129933668, LOC129933669, LOC129933670, LOC129933671, LOC129933672, LOC129933673, LOC129933674, LOC129933675, LOC129933676, LOC129933677, LOC129933678, LOC129933679, LOC129933680, LOC129933681, LOC129933682, LOC129933683, LOC129933684, LOC129933685, LOC129933686, LOC129933687, LOC129933688, LOC129933689, LOC129933690, LOC129933691, LOC129933692, LOC129933693, LOC129933694, LOC129933695, LOC129933696, LOC129933697, LOC129933698, LOC129933699, LOC129933700, LOC129933701, LOC129933702, LOC129933703, LOC129933704, LOC129933705, LOC129933706, LOC129933707, LOC129933708, LOC129933709, LOC129933710, LOC129933711, LOC129933712, LOC129933713, LOC129933714, LOC129933715, LOC129933716, LOC129933717, LOC129933718, LOC129933719, LOC129933720, LOC129933721, LOC129933722, LOC129933723, LOC129933724, LOC129933725, LOC129933726, LOC129933727, LOC129933728, LOC129933729, LOC129933730, LOC129933731, LOC129933732, LOC129933733, LOC129933734, LOC129933735, LOC129933736, LOC129933737, LOC129933738, LOC129933739, LOC129933740, LOC129933741, LOC129933742, LOC129933743, LOC129933744, LOC129933745, LOC129933746, LOC129933747, LOC129933748, LOC129933749, LOC129933750, LOC129933751, LOC129933752, LOC129933753, LOC129933754, LOC129933755, LOC129933756, LOC129933757, LOC129933758, LOC129933759, LOC129933760, LOC129933761, LOC129933762, LOC129933763, LOC129933764, LOC129933765, LOC129933766, LOC129933767, LOC129933768, LOC129933769, LOC129933770, LOC129933771, LOC129933772, LOC129933773, LOC129933774, LOC129933775, LOC129933776, LOC129933777, LOC129933778, LOC129933779, LOC129933780, LOC129933781, LOC129933782, LOC129933783, LOC129933784, LOC129933785, LOC129933786, LOC129933787, LOC129933788, LOC129933789, LOC129933790, LOC129933791, LOC129933792, LOC129933793, LOC129933794, LOC129933795, LOC129933796, LOC129933797, LOC129933798, LOC129933799, LOC129933800, LOC129933801, LOC129933802, LOC129933803, LOC129933804, LOC129933805, LOC129933806, LOC129933807, LOC129933808, LOC129933809, LOC129933810, LOC129933811, LOC129933812, LOC129933813, LOC129933814, LOC129933815, LOC129933816, LOC129933817, LOC129933818, LOC129933819, LOC129933820, LOC129933821, LOC129933822, LOC129933823, LOC129933824, LOC129933825, LOC129933826, LOC129933827, LOC129933828, LOC129933829, LOC129933830, LOC129933831, LOC129933832, LOC129933833, LOC129933834, LOC129933835, LOC129933836, LOC129933837, LOC129933838, LOC129933839, LOC129933840, LOC129933841, LOC129933842, LOC129933843, LOC129933844, LOC129933845, LOC129933846, LOC129933847, LOC129933848, LOC129933849, LOC129933850, LOC129933851, LOC129933852, LOC129933853, LOC129933854, LOC129933855, LOC129933856, LOC129933857, LOC129933858, LOC129933859, LOC129933860, LOC129933861, LOC129933862, LOC129933863, LOC129933864, LOC129933865, LOC129933866, LOC129933867, LOC129933868, LOC129933869, LOC129933870, LOC129933871, LOC129933872, LOC129933873, LOC129933874, LOC129933875, LOC129933876, LOC129933877, LOC129933878, LOC129933879, LOC129933880, LOC129933881, LOC129933882, LOC129933883, LOC129933884, LOC129933885, LOC129933886, LOC129933887, LOC129933888, LOC129933889, LOC129933890, LOC129933891, LOC129933892, LOC129933893, LOC129933894, LOC129933895, LOC129933896, LOC129933897, LOC129933898, LOC129933899, LOC129933900, LOC129933901, LOC129933902, LOC129933903, LOC129933904, LOC129933905, LOC129933906, LOC129933907, LOC129933908, LOC129933909, LOC129933910, LOC129933911, LOC129933912, LOC129933913, LOC129933914, LOC129933915, LOC129933916, LOC129933917, LOC129933918, LOC129933919, LOC129933920, LOC129933921, LOC129933922, LOC129933923, LOC129933924, LOC129933925, LOC129933926, LOC129933927, LOC129933928, LOC129933929, LOC129933930, LOC129933931, LOC129933932, LOC129933933, LOC129933934, LOC129933935, LOC129933936, LOC129933937, LOC129933938, LOC129933939, LOC129933940, LOC129933941, LOC129933942, LOC129933943, LOC129933944, LOC129933945, LOC129933946, LOC129933947, LOC129933948, LOC129933949, LOC129933950, LOC129933951, LOC129933952, LOC129933953, LOC129933954, LOC129933955, LOC129933956, LOC129933957, LOC129933958, LOC129933959, LOC129933960, LOC129933961, LOC129933962, LOC129933963, LOC129933964, LOC129933965, LOC129933966, LOC129933967, LOC129933968, LOC129933969, LOC129933970, LOC129933971, LOC129933972, LOC129933973, LOC129933974, LOC129933975, LOC129933976, LOC129933977, LOC129933978, LOC129933979, LOC129933980, LOC129933981, LOC129933982, LOC129933983, LOC129933984, LOC129933985, LOC129933986, LOC129933987, LOC129933988, LOC129933989, LOC129933990, LOC129933991, LOC129933992, LOC129933993, LOC129933994, LOC129933995, LOC129933996, LOC129933997, LOC129933998, LOC129933999, LOC129934000, LOC129934001, LOC129934002, LOC129934003, LOC129934004, LOC129934005, LOC129934006, LOC129934007, LOC129934008, LOC129934009, LOC129934010, LOC129934011, LOC129934012, LOC129934013, LOC129934014, LOC129934015, LOC129934016, LOC129934017, LOC129934018, LOC129934019, LOC129934020, LOC129934021, LOC129934022, LOC129934023, LOC129934024, LOC129934025, LOC129934026, LOC129934027, LOC129934028, LOC129934029, LOC129934030, LOC129934031, LOC129934032, LOC129934033, LOC129934034, LOC129934035, LOC129934036, LOC129934037, LOC129934038, LOC129934039, LOC129934040, LOC129934041, LOC129934042, LOC129934043, LOC129934044, LOC129934045, LOC129934046, LOC129934047, LOC129934048, LOC129934049, LOC129934050, LOC129934051, LOC129934052, LOC129934053, LOC129934054, LOC129934055, LOC129934056, LOC129934057, LOC129934058, LOC129934059, LOC129934060, LOC129934061, LOC129934062, LOC129934063, LOC129934064, LOC129934065, LOC129934066, LOC129934067, LOC129934068
See casesBenign
(Feb 4, 2013)
no assertion criteria provided
3.
GRCh37:
Chr2:40965422-58090956
GRCh38:
Chr2:40738282-57863821
ABCG5, ABCG8, ACYP2, ASB3, ATP6V1E2, BCYRN1, C1GALT1C1L, C2orf73, CALM2, CAMKMT, CCDC85A, CCDC88A, CFAP36, CHAC2, CLHC1, COX7A2L, CRIPT, DYNC2LI1, EFEMP1, EML4, EML4-AS1, EML6, EML6-AS1, EPAS1, EPCAM, EPCAM-DT, ERLEC1, FBXO11, FOXN2, FSHR, GPR75, GPR75-ASB3, GTF2A1L, HAAO, KCNG3, KCNK12, LHCGR, LINC01118, LINC01119, LINC01121, LINC01126, LINC01794, LINC01813, LINC01819, LINC01820, LINC01833, LINC01867, LINC01913, LINC01914, LINC02580, LINC02583, LINC02898, LOC100129434, LOC100506235, LOC105369165, LOC110120598, LOC110120696, LOC110121071, LOC110121222, LOC110121235, LOC111465020, LOC111776219, LOC111776220, LOC112840932, LOC112840935, LOC112840936, LOC112840937, LOC112840938, LOC112840939, LOC112840940, LOC112840941, LOC112840942, LOC112840943, LOC112841579, LOC112841580, LOC114004372, LOC114827832, LOC114827839, LOC115945155, LOC115945156, LOC115945157, LOC115945158, LOC120961748, LOC120961749, LOC120961750, LOC120961751, LOC120961752, LOC120961753, LOC120961754, LOC120961755, LOC120961756, LOC120961757, LOC120961758, LOC120961759, LOC121725089, LOC121725090, LOC122757922, LOC122757923, LOC122757924, LOC122757925, LOC122757926, LOC122757927, LOC122757928, LOC122757929, LOC122757930, LOC122757931, LOC122757932, LOC122757933, LOC122757934, LOC122757935, LOC122757936, LOC122757937, LOC122757938, LOC122757939, LOC122757940, LOC122757941, LOC122757942, LOC122757943, LOC122757944, LOC122757945, LOC122757946, LOC122757947, LOC126806200, LOC126806201, LOC126806202, LOC126806203, LOC126806204, LOC126806205, LOC126806206, LOC126806207, LOC126806208, LOC126806209, LOC126806210, LOC126806211, LOC126806212, LOC126806213, LOC126806214, LOC126806215, LOC126806216, LOC126806217, LOC126806218, LOC126806219, LOC126806220, LOC126806221, LOC126806222, LOC126806223, LOC129388852, LOC129388853, LOC129388854, LOC129388855, LOC129388856, LOC129388857, LOC129388858, LOC129388859, LOC129388860, LOC129388861, LOC129388862, LOC129388863, LOC129933547, LOC129933548, LOC129933549, LOC129933550, LOC129933551, LOC129933552, LOC129933553, LOC129933554, LOC129933555, LOC129933556, LOC129933557, LOC129933558, LOC129933559, LOC129933560, LOC129933561, LOC129933562, LOC129933563, LOC129933564, LOC129933565, LOC129933566, LOC129933567, LOC129933568, LOC129933569, LOC129933570, LOC129933571, LOC129933572, LOC129933573, LOC129933574, LOC129933575, LOC129933576, LOC129933577, LOC129933578, LOC129933579, LOC129933580, LOC129933581, LOC129933582, LOC129933583, LOC129933584, LOC129933585, LOC129933586, LOC129933587, LOC129933588, LOC129933589, LOC129933590, LOC129933591, LOC129933592, LOC129933593, LOC129933594, LOC129933595, LOC129933596, LOC129933597, LOC129933598, LOC129933599, LOC129933600, LOC129933601, LOC129933602, LOC129933603, LOC129933604, LOC129933605, LOC129933606, LOC129933607, LOC129933608, LOC129933609, LOC129933610, LOC129933611, LOC129933612, LOC129933613, LOC129933614, LOC129933615, LOC129933616, LOC129933617, LOC129933618, LOC129933619, LOC129933620, LOC129933621, LOC129933622, LOC129933623, LOC129933624, LOC129933625, LOC129933626, LOC129933627, LOC129933628, LOC129933629, LOC129933630, LOC129933631, LOC129933632, LOC129933633, LOC129933634, LOC129933635, LOC129933636, LOC129933637, LOC129933638, LOC129933639, LOC129933640, LOC129933641, LOC129933642, LOC129933643, LOC129933644, LOC129933645, LOC129933646, LOC129933647, LOC129933648, LOC129933649, LOC129933650, LOC129933651, LOC129933652, LOC129933653, LOC129933654, LOC129933655, LOC129933656, LOC129933657, LOC129933658, LOC129933659, LOC129933660, LOC129933661, LOC129933662, LOC129933663, LOC129933664, LOC129933665, LOC129933666, LOC129933667, LOC129933668, LOC129933669, LOC129933670, LOC129933671, LOC129933672, LOC129933673, LOC129933674, LOC129933675, LOC129933676, LOC129933677, LOC129933678, LOC129933679, LOC129933680, LOC129933681, LOC129933682, LOC129933683, LOC129933684, LOC129933685, LOC129933686, LOC129933687, LOC129933688, LOC129933689, LOC129933690, LOC129933691, LOC129933692, LOC129933693, LOC129933694, LOC129933695, LOC129933696, LOC129933697, LOC129933698, LOC129933699, LOC129933700, LOC129933701, LOC129933702, LOC129933703, LOC129933704, LOC129933705, LOC129933706, LOC129933707, LOC129933708, LOC129933709, LOC129933710, LOC129933711, LOC129933712, LOC129933713, LOC129933714, LOC129933715, LOC129933716, LOC129933717, LOC129933718, LOC129933719, LOC129933720, LOC129933721, LOC129933722, LOC129933723, LOC129933724, LOC129933725, LOC129933726, LOC129933727, LOC129933728, LOC129933729, LOC129933730, LOC129933731, LOC129933732, LOC129933733, LOC129933734, LOC129933735, LOC129933736, LOC129933737, LOC129933738, LOC129933739, LOC129933740, LOC129933741, LOC129933742, LOC129933743, LOC129933744, LOC129933745, LOC129933746, LOC129933747, LOC129933748, LOC129933749, LOC129933750, LOC129933751, LOC129933752, LOC129933753, LOC129933754, LOC129933755, LOC129933756, LOC129933757, LOC129933758, LOC129933759, LOC129933760, LOC129933761, LOC129933762, LOC129933763, LOC129933764, LOC129933765, LOC129933766, LOC129933767, LOC129933768, LOC129933769, LOC129933770, LOC129933771, LOC129933772, LOC129933773, LOC129933774, LOC129933775, LOC129933776, LOC132088845, LOC132088847, LOC132090678, LRPPRC, MCFD2, MIR216A, MIR216B, MIR217, MIR217HG, MIR3682, MIR4431, MIR548BA, MIR559, MIR8485, MSH2, MSH2-OT1, MSH6, MTA3, MTIF2, NRXN1, NRXN1-DT, OXER1, PIGF, PKDCC, PLEKHH2, PNPT1, PPM1B, PPM1B-DT, PPP1R21, PPP4R3B, PPP4R3B-DT, PREPL, PRKCE, PRKCE-AS1, PSME4, RHOQ, RHOQ-AS1, RPS27A, RTN4, SIX2, SIX3, SIX3-AS1, SLC3A1, SOCS5, SPTBN1, SPTBN1-AS1, SPTBN1-AS2, SRBD1, STON1, STON1-GTF2A1L, STPG4, THADA, TMEM247, TRI-TAT2-1, TSPYL6, TTC7A, ZFP36L2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr2:46642248-48430346
GRCh38:
Chr2:46415109-48203207
See casesUncertain significance
(Jul 10, 2013)
no assertion criteria provided
5.
GRCh37:
Chr2:47033357-50792676
GRCh38:
Chr2:46806218-50565538
See casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
6.
GRCh37:
Chr2:47316802-48706820
GRCh38:
Chr2:47089663-48479681
See casesLikely pathogenic
(Oct 10, 2011)
no assertion criteria provided
7.
GRCh37:
Chr2:47596635-48034009
GRCh38:
Chr2:47369496-47806870
Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Aug 22, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr2:47890992-48012867
GRCh38:
Chr2:47663853-47785728
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
9.
GRCh37:
Chr2:47998510-48020183
GRCh38:
Chr2:47771371-47793044
LOC129933705, LOC129933706, LOC129933707, LOC129933708, MSH6Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
10.
GRCh37:
Chr2:48007276-48020272
GRCh38:
Chr2:47780137-47793133
LOC129933707, LOC129933708, LOC129933706, LOC129933705, MSH6Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
11.
GRCh37:
Chr2:48009816
GRCh38:
Chr2:47782677
MSH6Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
12.
GRCh37:
Chr2:48009925
GRCh38:
Chr2:47782786
LOC129933706, MSH6Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
13.
GRCh37:
Chr2:48010028
GRCh38:
Chr2:47782889
LOC129933706, MSH6not providedLikely benign
(Apr 16, 2019)
criteria provided, single submitter
14.
GRCh37:
Chr2:48010085
GRCh38:
Chr2:47782946
LOC129933706, MSH6not providedLikely benign
(Mar 1, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr2:48010163
GRCh38:
Chr2:47783024
LOC129933706, MSH6Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
16.
GRCh37:
Chr2:48010214
GRCh38:
Chr2:47783075
LOC129933706, MSH6Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
17.
GRCh37:
Chr2:48010221-48032166
GRCh38:
Chr2:47783082-47805027
LOC129933706, LOC129933707, LOC129933708, MSH6Lynch syndromeUncertain significance
(Dec 26, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr2:48010221-48010632
GRCh38:
Chr2:47783082-47783493
LOC129933707, MSH6, LOC129933706Lynch syndromeUncertain significance
(Nov 9, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr2:48010221-48018262
GRCh38:
Chr2:47783082-47791123
LOC129933706, LOC129933707, LOC129933708, MSH6Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
20.
GRCh37:
Chr2:48010221-48034092
GRCh38:
Chr2:47783082-47806953
LOC129933707, LOC129933708, FBXO11, LOC129933706, MSH6Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
21.
GRCh37:
Chr2:48010242-48010243
GRCh38:
Chr2:47783103-47783104
LOC129933706, MSH6Hereditary cancer-predisposing syndromeLikely pathogenic
(Mar 28, 2020)
criteria provided, single submitter
22.
GRCh37:
Chr2:48010255
GRCh38:
Chr2:47783116
LOC129933706, MSH6Lynch syndrome 5Likely benign
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr2:48010317
GRCh38:
Chr2:47783178
LOC129933706, MSH6Lynch syndrome 5Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr2:48010322
GRCh38:
Chr2:47783183
LOC129933706, MSH6Lynch syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr2:48010323
GRCh38:
Chr2:47783184
LOC129933706, MSH6not specifiedLikely benign
(May 19, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr2:48010324
GRCh38:
Chr2:47783185
LOC129933706, MSH6not providedLikely benign
(Mar 3, 2015)
criteria provided, single submitter
27.
GRCh37:
Chr2:48010325
GRCh38:
Chr2:47783186
LOC129933706, MSH6not specifiedLikely benign
(Mar 31, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr2:48010326
GRCh38:
Chr2:47783187
LOC129933706, MSH6not specifiedLikely benign
(Nov 22, 2015)
criteria provided, single submitter
29.
GRCh37:
Chr2:48010327
GRCh38:
Chr2:47783188
LOC129933706, MSH6not specified, Lynch syndrome 5Likely benign
(May 28, 2019)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr2:48010328
GRCh38:
Chr2:47783189
LOC129933706, MSH6not specifiedLikely benign
(Dec 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr2:48010328
GRCh38:
Chr2:47783189
LOC129933706, MSH6not specifiedLikely benign
(Jun 28, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr2:48010329
GRCh38:
Chr2:47783190
LOC129933706, MSH6not providedUncertain significance
(Apr 28, 2015)
criteria provided, single submitter
33.
GRCh37:
Chr2:48010332
GRCh38:
Chr2:47783193
LOC129933706, MSH6Lynch syndrome 5Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr2:48010334
GRCh38:
Chr2:47783195
LOC129933706, MSH6not providedBenign
(Mar 19, 2015)
criteria provided, single submitter
35.
GRCh37:
Chr2:48010335
GRCh38:
Chr2:47783196
LOC129933706, MSH6not specifiedLikely benign
(Mar 9, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr2:48010336
GRCh38:
Chr2:47783197
LOC129933706, MSH6not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr2:48010336
GRCh38:
Chr2:47783197
LOC129933706, MSH6not specifiedLikely benign
(Oct 27, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr2:48010339
GRCh38:
Chr2:47783200
MSH6not specifiedLikely benign
(Sep 28, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr2:48010339
GRCh38:
Chr2:47783200
MSH6not specifiedLikely benign
(Apr 26, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr2:48010345
GRCh38:
Chr2:47783206
MSH6not specifiedLikely benign
(Jun 30, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr2:48010347
GRCh38:
Chr2:47783208
MSH6not specifiedLikely benign
(Nov 1, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr2:48010348
GRCh38:
Chr2:47783209
MSH6not providedUncertain significance
(Feb 27, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr2:48010349
GRCh38:
Chr2:47783210
MSH6not providedUncertain significance
(Nov 23, 2015)
criteria provided, single submitter
44.
GRCh37:
Chr2:48010353
GRCh38:
Chr2:47783214
MSH6Hereditary cancer-predisposing syndromeUncertain significance
(Jul 10, 2019)
criteria provided, single submitter
45.
GRCh37:
Chr2:48010353
GRCh38:
Chr2:47783214
MSH6Hereditary cancer-predisposing syndromeLikely benign
(Apr 26, 2017)
criteria provided, single submitter
46.
GRCh37:
Chr2:48010354
GRCh38:
Chr2:47783215
MSH6not specified, Hereditary cancer-predisposing syndromeLikely benign
(Jul 24, 2018)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr2:48010355
GRCh38:
Chr2:47783216
MSH6not specified, not provided, Hereditary cancer-predisposing syndrome,
Breast and/or ovarian cancer
Conflicting interpretations of pathogenicity
(Aug 15, 2023)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr2:48010356
GRCh38:
Chr2:47783217
MSH6not specifiedConflicting interpretations of pathogenicity
(Aug 15, 2023)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr2:48010356
GRCh38:
Chr2:47783217
MSH6Hereditary cancer-predisposing syndrome, not specifiedLikely benign
(Sep 25, 2017)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr2:48010357
GRCh38:
Chr2:47783218
MSH6Hereditary cancer-predisposing syndromeLikely benign
(Apr 17, 2017)
criteria provided, single submitter
51.
GRCh37:
Chr2:48010357
GRCh38:
Chr2:47783218
MSH6Hereditary cancer-predisposing syndrome, not specifiedConflicting interpretations of pathogenicity
(Aug 3, 2018)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr2:48010359
GRCh38:
Chr2:47783220
MSH6not specified, Hereditary cancer-predisposing syndromeLikely benign
(Sep 1, 2017)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr2:48010360
GRCh38:
Chr2:47783221
MSH6Hereditary cancer-predisposing syndromeUncertain significance
(Mar 23, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr2:48010360
GRCh38:
Chr2:47783221
MSH6Hereditary cancer-predisposing syndromeUncertain significance
(Mar 23, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr2:48010361
GRCh38:
Chr2:47783222
MSH6Hereditary cancer-predisposing syndromeUncertain significance
(Apr 30, 2019)
criteria provided, single submitter
56.
GRCh37:
Chr2:48010361
GRCh38:
Chr2:47783222
MSH6Hereditary cancer-predisposing syndrome, not specifiedConflicting interpretations of pathogenicity
(Aug 15, 2023)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr2:48010362
GRCh38:
Chr2:47783223
MSH6Malignant tumor of breastUncertain significanceno assertion criteria provided
58.
GRCh37:
Chr2:48010362-48010363
GRCh38:
Chr2:47783223-47783224
MSH6not provided, Hereditary cancer-predisposing syndromeLikely benign
(Apr 30, 2021)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr2:48010362
GRCh38:
Chr2:47783223
MSH6Hereditary cancer-predisposing syndromeLikely benign
(Dec 9, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr2:48010363-48010642
GRCh38:
Chr2:47783224-47783503
LOC129933707, MSH6Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Mar 12, 2019)
criteria provided, single submitter
61.
GRCh37:
Chr2:48010363-48018272
GRCh38:
Chr2:47783224-47791133
LOC129933707, LOC129933708, MSH6Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Aug 30, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr2:48010363-48034009
GRCh38:
Chr2:47783224-47806870
LOC129933707, LOC129933708, MSH6Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
63.
GRCh37:
Chr2:48010363-48010642
GRCh38:
Chr2:47783224-47783503
LOC129933707, MSH6Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Jul 9, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr2:48010363-48034009
GRCh38:
Chr2:47783224-47806870
LOC129933707, LOC129933708, MSH6Hereditary nonpolyposis colorectal neoplasmsPathogenic
(May 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr2:48010363-48018272
GRCh38:
Chr2:47783224-47791133
LOC129933707, LOC129933708, MSH6Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(May 20, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr2:48010364
GRCh38:
Chr2:47783225
MSH6not specified, Hereditary cancer-predisposing syndromeUncertain significance
(Oct 8, 2018)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr2:48010365
GRCh38:
Chr2:47783226
MSH6not provided, not specified, Lynch syndrome 5,
Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Jul 7, 2023)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr2:48010366
GRCh38:
Chr2:47783227
MSH6not specified, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Aug 9, 2016)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr2:48010367
GRCh38:
Chr2:47783228
MSH6not provided, Hereditary cancer-predisposing syndromeUncertain significance
(Oct 29, 2020)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr2:48010367-48034005
GRCh38:
Chr2:47783228-47806866
LOC129933707, LOC129933708, MSH6Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Sep 5, 2017)
criteria provided, single submitter
71.
GRCh37:
Chr2:48010367-48034005
GRCh38:
Chr2:47783228-47806866
LOC129933707, LOC129933708, MSH6Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Feb 11, 2018)
criteria provided, single submitter
72.
GRCh38:
Chr2:47783228-47805033
LOC129933707, LOC129933708, MSH6Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Aug 16, 2017)
criteria provided, single submitter
73.
GRCh37:
Chr2:48010367-48018268
GRCh38:
Chr2:47783228-47791129
LOC129933708, LOC129933707, MSH6Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Aug 18, 2017)
criteria provided, single submitter
74.
GRCh38:
Chr2:47783228-47783499
LOC129933707, MSH6Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Jan 20, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr2:48010367
GRCh38:
Chr2:47783228
MSH6Hereditary cancer-predisposing syndrome, not provided, not specified,
Lynch syndrome 5
Conflicting interpretations of pathogenicity
(Apr 21, 2023)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr2:48010367
GRCh38:
Chr2:47783228
MSH6not specified, Hereditary cancer-predisposing syndrome, not provided,
Lynch syndrome 5
Benign/Likely benign
(Aug 15, 2023)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr2:48010368
GRCh38:
Chr2:47783229
MSH6Hereditary cancer-predisposing syndromeUncertain significance
(Mar 20, 2023)
criteria provided, single submitter
78.
GRCh37:
Chr2:48010369-48010415
GRCh38:
Chr2:47783230-47783276
MSH6M1fsHereditary cancer-predisposing syndromePathogenic
(Dec 27, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr2:48010369-48010631
GRCh38:
Chr2:47783230-47783492
LOC129933707, MSH6not providedUncertain significanceno assertion criteria provided
80.
GRCh37:
Chr2:48010369
GRCh38:
Chr2:47783230
MSH6Hereditary cancer-predisposing syndromeUncertain significance
(May 8, 2023)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr2:48010369
GRCh38:
Chr2:47783230
MSH6Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
82.
GRCh37:
Chr2:48010369
GRCh38:
Chr2:47783230
MSH6Hereditary cancer-predisposing syndromeUncertain significance
(May 31, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr2:48010370
GRCh38:
Chr2:47783231
MSH6Hereditary cancer-predisposing syndromeUncertain significance
(Mar 8, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr2:48010370
GRCh38:
Chr2:47783231
MSH6Hereditary cancer-predisposing syndromeUncertain significance
(Apr 13, 2023)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr2:48010371-48014019
GRCh38:
Chr2:47783232-47786880
LOC129933708, LOC129933707, MSH6Carcinoma of colonPathogenicno assertion criteria provided
86.
GRCh37:
Chr2:48010371-48014456
GRCh38:
Chr2:47783232-47787317
LOC129933707, LOC129933708, MSH6not providedPathogenicno assertion criteria provided
87.
GRCh37:
Chr2:48010371
GRCh38:
Chr2:47783232
MSH6Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified,
not provided, Lynch syndrome
Conflicting interpretations of pathogenicity
(Mar 14, 2022)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr2:48010372-48010378
GRCh38:
Chr2:47783233-47783239
MSH6Hereditary cancer-predisposing syndromePathogenic
(Oct 29, 2019)
criteria provided, single submitter
89.
GRCh37:
Chr2:48010372
GRCh38:
Chr2:47783233
MSH6not specified, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Jul 24, 2019)
criteria provided, conflicting interpretations
90.
GRCh37:
Chr2:48010372-48018262
GRCh38:
Chr2:47783233-47791123
LOC129933707, LOC129933708, MSH6Lynch syndromePathogenic
(May 28, 2015)
criteria provided, single submitter
91.
GRCh37:
Chr2:48010373
GRCh38:
Chr2:47783234
MSH6M1VHereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndromePathogenic/Likely pathogenic
(Feb 10, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr2:48010374
GRCh38:
Chr2:47783235
MSH6M1THereditary nonpolyposis colorectal neoplasmsLikely pathogenic
(Apr 2, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr2:48010375
GRCh38:
Chr2:47783236
MSH6M1IHereditary cancer-predisposing syndromePathogenic
(Jul 27, 2017)
criteria provided, single submitter
94.
GRCh37:
Chr2:48010375
GRCh38:
Chr2:47783236
MSH6M1fsHereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Jul 13, 2021)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr2:48010375
GRCh38:
Chr2:47783236
MSH6M1ILynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
96.
GRCh37:
Chr2:48010377
GRCh38:
Chr2:47783238
MSH6S2LHereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr2:48010378
GRCh38:
Chr2:47783239
MSH6Hereditary nonpolyposis colorectal neoplasmsLikely benign
(Jan 10, 2022)
criteria provided, single submitter
98.