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Items: 1 to 100 of 1815

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:149825831-180236332
GRCh38:
Chr1:149854269-180267197
LOC132088675, LOC132088682, LOC132088705, LOC132088709, LOC132088744, LOC132088748, LOC132088749, LOC132090667, LOC132090668, LOC132090669, LOC729867, LORICRIN, LRRC52, LRRC52-AS1, LRRC71, LY9, LYSMD1, MAEL, MCL1, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MGST3, MINDY1, MIR12116, MIR1255B2, MIR1295A, MIR1295B, MIR1843, MIR190B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4257, MIR4258, MIR4259, MIR4424, MIR4654, MIR488, MIR5187, MIR554, MIR555, MIR556, MIR557, MIR5698, MIR6737, MIR6738, MIR6878, MIR765, MIR8083, MIR9-1, MIR9-1HG, MIR921, MIR92B, MLLT11, MNDA, MPC2, MPZ, MPZL1, MROH9, MRPL24, MRPL9, MRPS14, MRPS21, MSTO1, MTMR11, MTX1, MUC1, MYOC, MYOCOS, NAXE, NCSTN, NDUFS2, NECTIN4, NECTIN4-AS1, NES, NHLH1, NIT1, NME7, NOS1AP, NPHS2, NPR1, NR1I3, NTMT2, NTRK1, NUF2, NUP210L, OAZ3, OLFML2B, OR10J1, OR10J3, OR10J4, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PAPPA2, PAQR6, PBX1, PBX1-AS1, PBXIP1, PCP4L1, PEA15, PEAR1, PEX19, PFDN2, PGLYRP3, PGLYRP4, PI4KB, PIGC, PIGM, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POU2F1, POU2F1-DT, PPOX, PRCC, PRDX6, PRDX6-AS1, PRPF3, PRR9, PRRC2C, PRRX1, PRUNE1, PSMB4, PSMD4, PYDC5, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RC3H1, RC3H1-DT, RCSD1, RFX5, RFX5-AS1, RGS4, RGS5, RGS5-AS1, RHBG, RIIAD1, RIT1, RORC, RPRD2, RPS27, RPTN, RUSC1, RUSC1-AS1, RXFP4, RXRG, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCARNA26A, SCARNA26B, SCARNA3, SCARNA4, SCNM1, SCYL3, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SEMA6C, SERPINC1, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHE, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SLC9C2, SMCP, SMG5, SMIM42, SNAPIN, SNHG28, SNORA103, SNORA58B, SNORA80E, SNORD13C, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SNX27, SOAT1, SPATA46, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRR5, SPTA1, SSR2, STYXL2, SUCO, SV2A, SYT11, TADA1, TAGLN2, TARS2, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TDRKH-AS1, TEX35, TEX50, THBS3, THBS3-AS1, THEM4, THEM5, TIPRL, TMCO1, TMCO1-AS1, TMEM79, TMOD4, TNFAIP8L2, TNFAIP8L2-SCNM1, TNFSF18, TNFSF4, TNN, TNR, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TPM3, TRD-GTC2-1, TRD-GTC2-2, TRD-GTC2-3, TRD-GTC2-4, TRD-GTC2-5, TRE-CTC1-2, TRE-CTC1-3, TRE-CTC1-4, TRE-CTC1-5, TRE-TTC4-2, TRG-GCC1-1, TRG-GCC1-2, TRG-GCC1-3, TRG-GCC1-4, TRG-GCC2-1, TRG-GCC4-1, TRG-TCC2-2, TRG-TCC2-3, TRG-TCC2-4, TRG-TCC2-5, TRG-TCC2-6, TRG-TCC4-1, TRIM46, TRL-CAA6-1, TRL-CAG1-1, TRL-CAG1-2, TRL-CAG1-3, TRL-CAG1-4, TRL-CAG1-5, TRL-CAG1-6, TRN-GTT1-1, TRN-GTT2-2, TRP-AGG2-1, TRP-CGG1-1, TRR-TCT4-1, TRV-CAC1-1, TRX-CAT1-1, TSACC, TSTD1, TTC24, TUFT1, UAP1, UBAP2L, UBE2Q1, UBE2Q1-AS1, UBQLN4, UCK2, UFC1, UHMK1, USF1, USP21, VAMP4, VANGL2, VHLL, VPS45, VPS72, VSIG8, XCL1, XCL2, YY1AP1, ZBTB37, ZBTB7B, ZNF687, ZNF687-AS1, LOC129931498, LOC129931499, LOC129931500, LOC129931501, LOC129931502, LOC129931503, LOC129931504, LOC129931505, LOC129931506, LOC129931507, LOC129931508, LOC129931509, LOC129931510, LOC129931511, LOC129931512, LOC129931513, LOC129931514, LOC129931515, LOC129931516, LOC129931517, LOC129931518, LOC129931519, LOC129931520, LOC129931521, LOC129931522, LOC129931523, LOC129931524, LOC129931525, LOC129931526, LOC129931527, LOC129931528, LOC129931529, LOC129931530, LOC129931531, LOC129931532, LOC129931533, LOC129931534, LOC129931535, LOC129931536, LOC129931537, LOC129931538, LOC129931539, LOC129931540, LOC129931541, LOC129931542, LOC129931543, LOC129931544, LOC129931545, LOC129931546, LOC129931547, LOC129931548, LOC129931549, LOC129931550, LOC129931551, LOC129931552, LOC129931553, LOC129931554, LOC129931555, LOC129931556, LOC129931557, LOC129931558, LOC129931559, LOC129931560, LOC129931561, LOC129931562, LOC129931563, LOC129931564, LOC129931565, LOC129931566, LOC129931567, LOC129931568, LOC129931569, LOC129931570, LOC129931571, LOC129931572, LOC129931573, LOC129931574, LOC129931575, LOC129931576, LOC129931577, LOC129931578, LOC129931579, LOC129931580, LOC129931581, LOC129931582, LOC129931583, LOC129931584, LOC129931585, LOC129931586, LOC129931587, LOC129931588, LOC129931589, LOC129931590, LOC129931591, LOC129931592, LOC129931593, LOC129931594, LOC129931595, LOC129931596, LOC129931597, LOC129931598, LOC129931599, LOC129931600, LOC129931601, LOC129931602, LOC129931603, LOC129931604, LOC129931605, LOC129931606, LOC129931607, LOC129931608, LOC129931609, LOC129931610, LOC129931611, LOC129931612, LOC129931613, LOC129931614, LOC129931615, LOC129931616, LOC129931617, LOC129931618, LOC129931619, LOC129931620, LOC129931621, LOC129931622, LOC129931623, LOC129931624, LOC129931625, LOC129931626, LOC129931627, LOC129931628, LOC129931629, LOC129931630, LOC129931631, LOC129931632, LOC129931633, LOC129931634, LOC129931635, LOC129931636, LOC129931637, LOC129931638, LOC129931639, LOC129931640, LOC129931641, LOC129931642, LOC129931643, LOC129931644, LOC129931645, LOC129931646, LOC129931647, LOC129931648, LOC129931649, LOC129931650, LOC129931651, LOC129931652, LOC129931653, LOC129931654, LOC129931655, LOC129931656, LOC129931657, LOC129931658, LOC129931659, LOC129931660, LOC129931661, LOC129931662, LOC129931663, LOC129931664, LOC129931665, LOC129931666, LOC129931667, LOC129931668, LOC129931669, LOC129931670, LOC129931671, LOC129931672, LOC129931673, LOC129931674, LOC129931675, LOC129931676, LOC129931677, LOC129931678, LOC129931679, LOC129931680, LOC129931681, LOC129931682, LOC129931683, LOC129931684, LOC129931685, LOC129931686, LOC129931687, LOC129931688, LOC129931689, LOC129931690, LOC129931691, LOC129931692, LOC129931693, LOC129931694, LOC129931695, LOC129931696, LOC129931697, LOC129931698, LOC129931699, LOC129931700, LOC129931701, LOC129931702, LOC129931703, LOC129931704, LOC129931705, LOC129931706, LOC129931707, LOC129931708, LOC129931709, LOC129931710, LOC129931711, LOC129931712, LOC129931713, LOC129931714, LOC129931715, LOC129931716, LOC129931717, LOC129931718, LOC129931719, LOC129931720, LOC129931721, LOC129931722, LOC129931723, LOC129931724, LOC129931725, LOC129931726, LOC129931727, LOC129931728, LOC129931729, LOC129931730, LOC129931731, LOC129931732, LOC129931733, LOC129931734, LOC129931735, LOC129931736, LOC129931737, LOC129931738, LOC129931739, LOC129931740, LOC129931741, LOC129931742, LOC129931743, LOC129931744, LOC129931745, LOC129931746, LOC129931747, LOC129931748, LOC129931749, LOC129931750, LOC129931751, LOC129931752, LOC129931753, LOC129931754, LOC129931755, LOC129931756, LOC129931757, LOC129931758, LOC129931759, LOC129931760, LOC129931761, LOC129931762, LOC129931763, LOC129931764, LOC129931765, LOC129931766, LOC129931767, LOC129931768, LOC129931769, LOC129931770, LOC129931771, LOC129931772, LOC129931773, LOC129931774, LOC129931775, LOC129931776, LOC129931777, LOC129931778, LOC129931779, LOC129931780, LOC129931781, LOC129931782, LOC129931783, LOC129931784, LOC129931785, LOC129931786, LOC129931787, LOC129931788, LOC129931789, LOC129931790, LOC129931791, LOC129931792, LOC129931793, LOC129931794, LOC129931795, LOC129931796, LOC129931797, LOC129931798, LOC129931799, LOC129931800, LOC129931801, LOC129931802, LOC129931803, LOC129931804, LOC129931805, LOC129931806, LOC129931807, LOC129931808, LOC129931809, LOC129931810, LOC129931811, LOC129931812, LOC129931813, LOC129931814, LOC129931815, LOC129931816, LOC129931817, LOC129931818, LOC129931819, LOC129931820, LOC129931821, LOC129931822, LOC129931823, LOC129931824, LOC129931825, LOC129931826, LOC129931827, LOC129931828, LOC129931829, LOC129931830, LOC129931831, LOC129931832, LOC129931833, LOC129931834, LOC129931835, LOC129931836, LOC129931837, LOC129931838, LOC129931839, LOC129931840, LOC129931841, LOC129931842, LOC129931843, LOC129931844, LOC129931845, LOC129931846, LOC129931847, LOC129931848, LOC129931849, LOC129931850, LOC129931851, LOC129931852, LOC129931853, LOC129931854, LOC129931855, LOC129931856, LOC129931857, LOC129931858, LOC129931859, LOC129931860, LOC129931861, LOC129931862, LOC129931863, LOC129931864, LOC129931865, LOC129931866, LOC129931867, LOC129931868, LOC129931869, LOC129931870, LOC129931871, LOC129931872, LOC129931873, LOC129931874, LOC129931875, LOC129931876, LOC129931877, LOC129931878, LOC129931879, LOC129931880, LOC129931881, LOC129931882, LOC129931883, LOC129931884, LOC129931885, LOC129931886, LOC129931887, LOC129931888, LOC129931889, LOC129931890, LOC129931891, LOC129931892, LOC129931893, LOC129931894, LOC129931895, LOC129931896, LOC129931897, LOC129931898, LOC129931899, LOC129931900, LOC129931901, LOC129931902, LOC129931903, LOC129931904, LOC129931905, LOC129931906, LOC129931907, LOC129931908, LOC129931909, LOC129931910, LOC129931911, LOC129931912, LOC129931913, LOC129931914, LOC129931915, LOC129931916, LOC129931917, LOC129931918, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC129931966, LOC129931967, LOC129931968, LOC129931969, LOC129931970, LOC129931971, LOC129931972, LOC129931973, LOC129931974, LOC129931975, LOC129931976, LOC129931977, LOC129931978, LOC129931979, LOC129931980, LOC129931981, LOC129931982, LOC129931983, LOC129931984, LOC129931985, LOC129931986, LOC129931987, LOC129931988, LOC129931989, LOC129931990, LOC129931991, LOC129931992, LOC129931993, LOC129931994, LOC129931995, LOC129931996, LOC129931997, LOC129931998, LOC129931999, LOC129932000, LOC129932001, LOC129932002, LOC129932003, LOC129932004, LOC129932005, LOC129932006, LOC129932007, LOC129932008, LOC132088596, LOC132088597, LOC132088598, LOC132088599, LOC132088600, LOC132088655, LOC132088672, HRNR, HSD17B7, HSPA6, IFI16, IGSF8, IGSF9, IL6R, IL6R-AS1, ILDR2, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, ITLN1, ITLN2, IVL, JTB, JTB-DT, KCNJ10, KCNJ9, KCNN3, KHDC4, KIAA0040, KIFAP3, KIRREL1, KIRREL1-IT1, KLHDC9, KLHL20, KPLCE, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LCE7A, LELP1, LENEP, LHX4, LINC00302, LINC00626, LINC00970, LINC01133, LINC01142, LINC01363, LINC01527, LINC01645, LINC01657, LINC01675, LINC01681, LINC01704, LINC01741, LINC02772, LINC02819, LINC02988, LINGO4, LMNA, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100131107, LOC100505918, LOC100506023, LOC101928009, LOC101928034, LOC101928120, LOC101928177, LOC101928372, LOC101928565, LOC101928596, LOC105371458, LOC105371468, LOC105371470, LOC105371622, LOC106627981, LOC106627982, LOC107880064, LOC107985203, LOC108251792, LOC108254671, LOC108281190, LOC110013312, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC110121221, LOC110121262, LOC111464988, LOC111556138, LOC111828496, LOC112543491, LOC112577492, LOC112577493, LOC112577494, LOC112577495, LOC112577503, LOC112577506, LOC112577507, LOC112577508, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC112577517, LOC113939980, LOC115801442, LOC115801443, LOC115801444, LOC115801445, LOC115801446, LOC115801447, LOC115801448, LOC115801449, LOC115801450, LOC115801451, LOC115801452, LOC115801453, LOC115801454, LOC115801455, LOC115801456, LOC120766158, LOC120893159, LOC120893160, LOC120893161, LOC120893162, LOC120893163, LOC120893164, LOC120893165, LOC120893166, LOC120893168, LOC121725054, LOC121725055, LOC121725056, LOC121725058, LOC121725059, LOC121725060, LOC121725061, LOC121725062, LOC121725063, LOC121725064, LOC122128421, LOC122128422, LOC122128423, LOC122128424, LOC122128425, LOC122128426, LOC122128427, LOC122128428, LOC122128429, LOC122128430, LOC122128431, LOC122128432, LOC122128433, LOC122128434, LOC122128435, LOC122128436, LOC122128437, LOC122128438, LOC122128439, LOC122128440, LOC122128441, LOC122128442, LOC122128443, LOC122128444, LOC122128445, LOC122128446, LOC122128447, LOC122128448, LOC122128449, LOC122128450, LOC122128451, LOC122128452, LOC122128453, LOC122128454, LOC122128455, LOC122128456, LOC122128457, LOC122128458, LOC122128459, LOC122128460, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC122149313, LOC122149314, LOC122149315, LOC122149316, LOC125312414, LOC126805855, LOC126805856, LOC126805857, LOC126805858, LOC126805859, LOC126805860, LOC126805861, LOC126805862, LOC126805863, LOC126805864, LOC126805865, LOC126805866, LOC126805867, LOC126805868, LOC126805869, LOC126805870, LOC126805871, LOC126805872, LOC126805873, LOC126805874, LOC126805875, LOC126805876, LOC126805877, LOC126805878, LOC126805879, LOC126805880, LOC126805881, LOC126805882, LOC126805883, LOC126805884, LOC126805885, LOC126805886, LOC126805887, LOC126805888, LOC126805889, LOC126805890, LOC126805891, LOC126805892, LOC126805893, LOC126805894, LOC126805895, LOC126805896, LOC126805897, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC126805929, LOC126805930, LOC126805931, LOC126805932, LOC126805933, LOC126805934, LOC126805935, LOC126805936, LOC126805937, LOC126805938, LOC127814295, LOC128071543, LOC128772199, LOC128772200, LOC128772201, LOC128772202, LOC128772203, LOC128772204, LOC128772205, LOC128772206, LOC128772207, LOC128772208, LOC128772209, LOC128772210, LOC128772211, LOC128772212, LOC128772213, LOC128772214, LOC128772215, LOC128772216, LOC128772217, LOC128772218, LOC128772219, LOC128772220, LOC128772221, LOC128772222, LOC128772223, LOC128772224, LOC128772225, LOC128772226, LOC128772227, LOC128772228, LOC128772229, LOC128772230, LOC128772231, LOC128779115, LOC128781584, LOC128822934, LOC129388606, LOC129388607, LOC129388608, LOC129388609, LOC129388610, LOC129388611, LOC129388612, LOC129388613, LOC129388614, LOC129388615, LOC129388616, LOC129388617, LOC129388618, LOC129388619, LOC129388620, LOC129388621, LOC129388622, LOC129388623, LOC129388624, LOC129388625, LOC129388626, LOC129388627, LOC129388628, LOC129388629, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129388642, LOC129388643, LOC129388644, LOC129388645, LOC129388646, LOC129388647, LOC129931373, LOC129931374, LOC129931375, LOC129931376, LOC129931377, LOC129931378, LOC129931379, LOC129931380, LOC129931381, LOC129931382, LOC129931383, LOC129931384, LOC129931385, LOC129931386, LOC129931387, LOC129931388, LOC129931389, LOC129931390, LOC129931391, LOC129931392, LOC129931393, LOC129931394, LOC129931395, LOC129931396, LOC129931397, LOC129931398, LOC129931399, LOC129931400, LOC129931401, LOC129931402, LOC129931403, LOC129931404, LOC129931405, LOC129931406, LOC129931407, LOC129931408, LOC129931409, LOC129931410, LOC129931411, LOC129931412, LOC129931413, LOC129931414, LOC129931415, LOC129931416, LOC129931417, LOC129931418, LOC129931419, LOC129931420, LOC129931421, LOC129931422, LOC129931423, LOC129931424, LOC129931425, LOC129931426, LOC129931427, LOC129931428, LOC129931429, LOC129931430, LOC129931431, LOC129931432, LOC129931433, LOC129931434, LOC129931435, LOC129931436, LOC129931437, LOC129931438, LOC129931439, LOC129931440, LOC129931441, LOC129931442, LOC129931443, LOC129931444, LOC129931445, LOC129931446, LOC129931447, LOC129931448, LOC129931449, LOC129931450, LOC129931451, LOC129931452, LOC129931453, LOC129931454, LOC129931455, LOC129931456, LOC129931457, LOC129931458, LOC129931459, LOC129931460, LOC129931461, LOC129931462, LOC129931463, LOC129931464, LOC129931465, LOC129931466, LOC129931467, LOC129931468, LOC129931469, LOC129931470, LOC129931471, LOC129931472, LOC129931473, LOC129931474, LOC129931475, LOC129931476, LOC129931477, LOC129931478, LOC129931479, LOC129931480, LOC129931481, LOC129931482, LOC129931483, LOC129931484, LOC129931485, LOC129931486, LOC129931487, LOC129931488, LOC129931489, LOC129931490, LOC129931491, LOC129931492, LOC129931493, LOC129931494, LOC129931495, LOC129931496, LOC129931497, ABL2, ACKR1, ADAM15, ADAM15-EFNA4, ADAMTS4, ADAMTSL4, ADAMTSL4-AS1, ADAMTSL4-AS2, ADAR, ADCY10, AIM2, ALDH9A1, ANGPTL1, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, AQP10, ARHGAP30, ARHGEF11, ARHGEF2, ARHGEF2-AS2, ARNT, ASH1L, ASH1L-AS1, ASTN1, ATF6, ATF6-DT, ATP1A2, ATP1A4, ATP1B1, ATP8B2, AXDND1, B4GALT3, BCAN, BCAN-AS1, BCAN-AS2, BGLAP, BLZF1, BNIPL, BOLA1, BRINP2, C1orf105, C1orf220, C1orf226, C1orf43, C1orf54, C1orf56, C2CD4D, C2CD4D-AS1, CA14, CACYBP, CADM3, CADM3-AS1, CASQ1, CCDC181, CCDC190, CCT3, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD48, CD5L, CD84, CDC42SE1, CELF3, CENPL, CEP350, CERS2, CFAP126, CFAP141, CFAP45, CGN, CHRNB2, CHTOP, CIART, CKS1B, CLEC20A, CLK2, COP1, COP1-DT, COPA, CRABP2, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CRYZL2P-SEC16B, CTSK, CTSS, CTXND2, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST1-AS1, DCST2, DDR2, DEDD, DENND4B, DNM3, DNM3-IT1, DNM3OS, DPM3, DPT, DUSP12, DUSP23, ECM1, EFNA1, EFNA3, EFNA4, EFNA4-EFNA3, ENSA, ENTREP3, ETV3, ETV3L, F11R, F5, FALEC, FAM163A, FAM20B, FAM78B, FAM78B-AS1, FASLG, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FIRRM, FLAD1, FLG, FLG-AS1, FLG2, FMO1, FMO2, FMO3, FMO4, GABPB2, GAS5, GAS5-AS1, GATAD2B, GBA1, GLMP, GOLPH3L, GON4L, GORAB, GORAB-AS1, GPA33, GPATCH4, GPR161, GPR52, H2AC20, H2AC21, H2BC21, H4C15, HAPLN2, HAX1, HCN3, HDGF, HORMAD1
See casesPathogenic
(Jul 16, 2013)		no assertion criteria provided
2.
GRCh37:
Chr1:154538977-157593874
GRCh38:
Chr1:154566501-157624084
ADAM15, ADAM15-EFNA4, ADAR, ARHGEF11, ARHGEF2, ARHGEF2-AS2, ASH1L, ASH1L-AS1, BCAN, BCAN-AS1, BCAN-AS2, BGLAP, CCT3, CHRNB2, CKS1B, CLK2, CRABP2, DAP3, DCST1, DCST1-AS1, DCST2, DPM3, EFNA1, EFNA3, EFNA4, EFNA4-EFNA3, ENTREP3, ETV3, ETV3L, FCRL4, FCRL5, FDPS, FLAD1, GBA1, GLMP, GON4L, GPATCH4, HAPLN2, HCN3, HDGF, INSRR, IQGAP3, ISG20L2, KCNN3, KHDC4, KRTCAP2, LAMTOR2, LENEP, LINC02772, LMNA, LOC101928120, LOC101928177, LOC106627981, LOC106627982, LOC110013312, LOC110121221, LOC110121262, LOC111828496, LOC112577495, LOC115801448, LOC115801449, LOC120893161, LOC120893162, LOC120893163, LOC121725059, LOC122128435, LOC122128436, LOC122128437, LOC122128438, LOC122128439, LOC122128440, LOC122128441, LOC122128442, LOC122128443, LOC122128444, LOC122128445, LOC122128446, LOC122128447, LOC122128448, LOC122128449, LOC122128450, LOC126805874, LOC126805875, LOC126805876, LOC126805877, LOC126805878, LOC126805879, LOC126805880, LOC126805881, LOC126805882, LOC128772231, LOC129388611, LOC129388612, LOC129388613, LOC129931511, LOC129931512, LOC129931513, LOC129931514, LOC129931515, LOC129931516, LOC129931517, LOC129931518, LOC129931519, LOC129931520, LOC129931521, LOC129931522, LOC129931523, LOC129931524, LOC129931525, LOC129931526, LOC129931527, LOC129931528, LOC129931529, LOC129931530, LOC129931531, LOC129931532, LOC129931533, LOC129931534, LOC129931535, LOC129931536, LOC129931537, LOC129931538, LOC129931539, LOC129931540, LOC129931541, LOC129931542, LOC129931543, LOC129931544, LOC129931545, LOC129931546, LOC129931547, LOC129931548, LOC129931549, LOC129931550, LOC129931551, LOC129931552, LOC129931553, LOC129931554, LOC129931555, LOC129931556, LOC129931557, LOC129931558, LOC129931559, LOC129931560, LOC129931561, LOC129931562, LOC129931563, LOC129931564, LOC129931565, LOC129931566, LOC129931567, LOC129931568, LOC129931569, LOC129931570, LOC129931571, LOC129931572, LOC129931573, LOC129931574, LOC129931575, LOC129931576, LOC129931577, LOC129931578, LOC129931579, LOC129931580, LOC129931581, LOC129931582, LOC129931583, LOC129931584, LOC129931585, LOC129931586, LOC129931587, LOC129931588, LOC129931589, LOC129931590, LOC129931591, LOC129931592, LOC129931593, LOC129931594, LOC129931595, LOC129931596, LOC129931597, LOC129931598, LOC129931599, LOC129931600, LOC129931601, LOC129931602, LOC129931603, LOC129931604, LOC129931605, LOC129931606, LOC129931607, LOC129931608, LOC129931609, LOC129931610, LOC129931611, LOC129931612, LOC129931613, LOC129931614, LOC129931615, LOC129931616, LOC129931617, LOC129931618, LOC129931619, LOC129931620, LOC129931621, LOC129931622, LOC129931623, LOC129931624, LOC129931625, LOC129931626, LOC129931627, LOC129931628, LOC129931629, LOC129931630, LOC129931631, LOC129931632, LOC129931633, LOC129931634, LOC129931635, LOC129931636, LOC129931637, LOC129931638, LOC129931639, LOC129931640, LOC129931641, LOC129931642, LOC129931643, LOC129931644, LOC129931645, LOC129931646, LOC129931647, LOC129931648, LOC129931649, LOC129931650, LOC129931651, LOC129931652, LOC129931653, LOC129931654, LOC129931655, LOC129931656, LOC129931657, LOC129931658, LOC129931659, LRRC71, MEF2D, METTL25B, MEX3A, MIR4258, MIR555, MIR6738, MIR765, MIR9-1, MIR9-1HG, MIR92B, MRPL24, MSTO1, MTX1, MUC1, NAXE, NES, NTRK1, PAQR6, PBXIP1, PEAR1, PKLR, PMF1, PMF1-BGLAP, PMVK, PRCC, PYGO2, RAB25, RHBG, RIT1, RUSC1, RUSC1-AS1, RXFP4, SCAMP3, SCARNA26A, SCARNA26B, SCARNA4, SEMA4A, SH2D2A, SHC1, SLC25A44, SLC50A1, SMG5, SNORA80E, SSR2, SYT11, THBS3, THBS3-AS1, TMEM79, TRIM46, TSACC, TTC24, UBQLN4, VHLL, YY1AP1, ZBTB7B
See casesPathogenic
(Mar 19, 2013)		no assertion criteria provided
3.
GRCh37:
Chr1:155804210-156403997
GRCh38:
Chr1:155834419-156434205
ARHGEF2, ARHGEF2-AS2, BGLAP, CCT3, GLMP, GON4L, KHDC4, LAMTOR2, LMNA, LOC110013312, LOC110121262, LOC111828496, LOC115801448, LOC120893162, LOC121725059, LOC122128441, LOC122128442, LOC122128443, LOC122128444, LOC122128445, LOC122128446, LOC126805876, LOC126805877, LOC129388612, LOC129931574, LOC129931575, LOC129931576, LOC129931577, LOC129931578, LOC129931579, LOC129931580, LOC129931581, LOC129931582, LOC129931583, LOC129931584, LOC129931585, LOC129931586, LOC129931587, LOC129931588, LOC129931589, LOC129931590, LOC129931591, LOC129931592, LOC129931593, LOC129931594, LOC129931595, LOC129931596, LOC129931597, LOC129931598, LOC129931599, LOC129931600, LOC129931601, LOC129931602, LOC129931603, LOC129931604, LOC129931605, LOC129931606, LOC129931607, LOC129931608, LOC129931609, LOC129931610, LOC129931611, LOC129931612, LOC129931613, LOC129931614, LOC129931615, LOC129931616, LOC129931617, LOC129931618, LOC129931619, MEX3A, MIR6738, MIR9-1, MIR9-1HG, PAQR6, PMF1, PMF1-BGLAP, RAB25, RHBG, RIT1, RXFP4, SCARNA4, SEMA4A, SLC25A44, SMG5, SNORA80E, SSR2, SYT11, TMEM79, TSACC, UBQLN4, VHLL
See casesUncertain significance
(Oct 24, 2012)		no assertion criteria provided
4.
GRCh37:
Chr1:155870169-156108907
GRCh38:
Chr1:155900378-156139116
ARHGEF2-AS2, ARHGEF2, KHDC4, LAMTOR2, LMNA, LOC110121262, LOC120893162, LOC121725059, LOC122128442, LOC122128443, LOC122128444, LOC126805876, LOC126805877, LOC129931577, LOC129931578, LOC129931579, LOC129931580, LOC129931581, LOC129931582, LOC129931583, LOC129931584, LOC129931585, LOC129931586, LOC129931587, LOC129931588, LOC129931589, LOC129931590, LOC129931591, LOC129931592, LOC129931593, LOC129931594, LOC129931595, LOC129931596, LOC129931597, LOC129931598, LOC129931599, LOC129931600, MEX3A, MIR6738, RAB25, RIT1, RXFP4, SCARNA4, SNORA80E, SSR2, UBQLN4
Charcot-Marie-Tooth disease type 2Uncertain significance
(Nov 2, 2018)		criteria provided, single submitter
5.
GRCh37:
Chr1:156084484
GRCh38:
Chr1:156114693
LMNALipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive, Emery-Dreifuss muscular dystrophy,
Congenital muscular dystrophy due to LMNA mutation, Lethal tight skin contracture syndrome, Hutchinson-Gilford syndrome,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1, Dilated cardiomyopathy 1A,
Familial partial lipodystrophy, Dunnigan type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy ...see more		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
6.
GRCh37:
Chr1:156084485
GRCh38:
Chr1:156114694
LMNAFamilial partial lipodystrophy, Mandibuloacral dysplasia, Dilated Cardiomyopathy, Dominant,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive, Charcot-Marie-Tooth disease type 2,
Emery-Dreifuss muscular dystrophy, Lethal tight skin contracture syndrome, Congenital muscular dystrophy due to LMNA mutation,
Hutchinson-Gilford syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
7.
GRCh37:
Chr1:156084487
GRCh38:
Chr1:156114696
LMNALipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, not provided, Emery-Dreifuss muscular dystrophy,
Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Lethal tight skin contracture syndrome ...see more		Conflicting interpretations of pathogenicity
(Aug 3, 2018)		criteria provided, conflicting interpretations
8.
GRCh37:
Chr1:156084500
GRCh38:
Chr1:156114709
LMNALipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive, Emery-Dreifuss muscular dystrophy,
Congenital muscular dystrophy due to LMNA mutation, Lethal tight skin contracture syndrome, Charcot-Marie-Tooth disease type 2B1,
Hutchinson-Gilford syndrome, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy 1A ...see more		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
9.
GRCh37:
Chr1:156084527
GRCh38:
Chr1:156114736
LMNADilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Lethal tight skin contracture syndrome, Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia,
Emery-Dreifuss muscular dystrophy, Familial partial lipodystrophy, Congenital muscular dystrophy due to LMNA mutation,
Hutchinson-Gilford syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
10.
GRCh37:
Chr1:156084562
GRCh38:
Chr1:156114771
LMNAnot providedBenign
(Mar 3, 2015)		criteria provided, single submitter
11.
GRCh37:
Chr1:156084563
GRCh38:
Chr1:156114772
LMNAnot providedBenign
(Mar 3, 2015)		criteria provided, single submitter
12.
GRCh37:
Chr1:156084568
GRCh38:
Chr1:156114777
LMNADilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Lethal tight skin contracture syndrome, Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia,
Emery-Dreifuss muscular dystrophy, Familial partial lipodystrophy, Congenital muscular dystrophy due to LMNA mutation,
Hutchinson-Gilford syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
13.
GRCh37:
Chr1:156084572
GRCh38:
Chr1:156114781
LMNALimb-Girdle Muscular Dystrophy, Recessive, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Hutchinson-Gilford syndrome,
Charcot-Marie-Tooth disease type 2B1, Mandibuloacral dysplasia with type A lipodystrophy, Familial partial lipodystrophy, Dunnigan type,
Lethal tight skin contracture syndrome, Emery-Dreifuss muscular dystrophy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy 1A ...see more		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr1:156084582
GRCh38:
Chr1:156114791
LMNALipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive, Charcot-Marie-Tooth disease type 2B1,
Mandibuloacral dysplasia with type A lipodystrophy, Familial partial lipodystrophy, Dunnigan type, Lethal tight skin contracture syndrome,
Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy 1A,
Hutchinson-Gilford syndrome, Benign scapuloperoneal muscular dystrophy with cardiomyopathy ...see more		Likely benign
(Jul 23, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr1:156084601
GRCh38:
Chr1:156114810
LMNADilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Lethal tight skin contracture syndrome, Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy,
Familial partial lipodystrophy, Mandibuloacral dysplasia, Congenital muscular dystrophy due to LMNA mutation,
Hutchinson-Gilford syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
16.
GRCh37:
Chr1:156084612
GRCh38:
Chr1:156114821
LMNAnot providedBenign
(Mar 3, 2015)		criteria provided, single submitter
17.
GRCh37:
Chr1:156084622
GRCh38:
Chr1:156114831
LMNALipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive, Charcot-Marie-Tooth disease type 2B1,
Mandibuloacral dysplasia with type A lipodystrophy, Familial partial lipodystrophy, Dunnigan type, Lethal tight skin contracture syndrome,
not provided, Emery-Dreifuss muscular dystrophy, Maturity onset diabetes mellitus in young,
Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy 1ABenign scapuloperoneal muscular dystrophy with cardiomyopathy,
Hutchinson-Gilford syndrome, ...see more		Benign/Likely benign
(Jan 12, 2018)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:156084648
GRCh38:
Chr1:156114857
LMNADilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia, Lethal tight skin contracture syndrome,
Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy,
Hutchinson-Gilford syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
19.
GRCh37:
Chr1:156084666
GRCh38:
Chr1:156114875
LMNACongenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Lethal tight skin contracture syndrome, Emery-Dreifuss muscular dystrophy,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
20.
GRCh37:
Chr1:156084668
GRCh38:
Chr1:156114877
LMNAnot providedLikely benign
(Apr 20, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr1:156084682
GRCh38:
Chr1:156114891
LMNAnot specifiedLikely benign
(Oct 31, 2017)		criteria provided, single submitter
22.
GRCh37:
Chr1:156084690-156109650
GRCh38:
Chr1:156114899-156139859
LMNA, LOC120893162, LOC126805877, LOC129931597, LOC129931598, LOC129931599, LOC129931600Charcot-Marie-Tooth disease type 2Uncertain significance
(Nov 14, 2017)		criteria provided, single submitter
23.
GRCh37:
Chr1:156084690-156109650
GRCh38:
Chr1:156114899-156139859
LMNA, LOC120893162, LOC126805877, LOC129931597, LOC129931598, LOC129931599, LOC129931600Charcot-Marie-Tooth disease type 2Pathogenic
(Sep 19, 2017)		criteria provided, single submitter
24.
GRCh37:
Chr1:156084690-156096034
GRCh38:
Chr1:156114899-156126243
LMNA, LOC120893162, LOC129931597, LOC129931598, LOC129931599Charcot-Marie-Tooth disease type 2Pathogenic
(Jan 5, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr1:156084698
GRCh38:
Chr1:156114907
LMNAnot specifiedUncertain significance
(Jan 20, 2017)		criteria provided, single submitter
26.
GRCh37:
Chr1:156084700-156085075
GRCh38:
Chr1:156114909-156115284
LMNA, LOC129931597Charcot-Marie-Tooth disease type 2Pathogenic
(Jan 14, 2019)		criteria provided, single submitter
27.
GRCh37:
Chr1:156084704-156084718
GRCh38:
Chr1:156114913-156114927
LMNAnot providednot providedno assertion provided
28.
GRCh37:
Chr1:156084705
GRCh38:
Chr1:156114914
LMNADilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia, Lethal tight skin contracture syndrome,
Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy,
Hutchinson-Gilford syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
29.
GRCh37:
Chr1:156084706
GRCh38:
Chr1:156114915
LMNACardiomyopathyUncertain significance
(Dec 18, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr1:156084709
GRCh38:
Chr1:156114918
LMNAnot provided, Cardiomyopathy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2, Congenital muscular dystrophy due to LMNA mutation,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1ACharcot-Marie-Tooth disease type 2B1,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more		Uncertain significance
(May 3, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:156084710
GRCh38:
Chr1:156114919
LMNAM1LCharcot-Marie-Tooth disease type 2Pathogenic
(Aug 12, 2021)		criteria provided, single submitter
32.
GRCh37:
Chr1:156084710-156212953
GRCh38:
Chr1:156114919-156243162
BGLAP, LMNA, LOC110013312, LOC120893162, LOC126805877, LOC129931597, LOC129931598, LOC129931599, LOC129931600, LOC129931601, LOC129931602, LOC129931603, LOC129931604, LOC129931605, LOC129931606, LOC129931607, LOC129931608, LOC129931609, LOC129931610, LOC129931611, LOC129931612, PMF1, PMF1-BGLAP, SEMA4A, SLC25A44
Charcot-Marie-Tooth disease type 2Pathogenic
(May 29, 2019)		criteria provided, single submitter
33.
GRCh37:
Chr1:156084710-156085065
GRCh38:
Chr1:156114919-156115274
LMNA, LOC129931597Primary dilated cardiomyopathy, LaminopathyPathogenic
(Nov 25, 2014)		criteria provided, single submitter
34.
GRCh37:
Chr1:156084711
GRCh38:
Chr1:156114920
LMNAM1KCardiovascular phenotypePathogenic
(Nov 3, 2022)		criteria provided, single submitter
35.
GRCh37:
Chr1:156084712
GRCh38:
Chr1:156114921
LMNAM1Inot provided, Charcot-Marie-Tooth disease type 2, See cases
Pathogenic
(Feb 8, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr1:156084712
GRCh38:
Chr1:156114921
LMNAM1Inot providedPathogenic
(Apr 28, 2017)		criteria provided, single submitter
37.
GRCh37:
Chr1:156084712
GRCh38:
Chr1:156114921
LMNAM1ICharcot-Marie-Tooth disease type 2, not providedPathogenic/Likely pathogenic
(Apr 15, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr1:156084713
GRCh38:
Chr1:156114922
LMNAE2KCardiovascular phenotypeUncertain significance
(Jul 10, 2023)		criteria provided, single submitter
39.
GRCh37:
Chr1:156084713
GRCh38:
Chr1:156114922
LMNAE2*Charcot-Marie-Tooth disease type 2, Cardiovascular phenotypePathogenic
(Nov 29, 2018)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:156084716
GRCh38:
Chr1:156114925
LMNAT3ACharcot-Marie-Tooth disease type 2, not providedUncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr1:156084716-156084717
GRCh38:
Chr1:156114925-156114926
LMNAS5fsCharcot-Marie-Tooth disease type 2Pathogenic
(Aug 9, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr1:156084717
GRCh38:
Chr1:156114926
LMNAT3NCardiomyopathyUncertain significance
(Nov 27, 2019)		criteria provided, single submitter
43.
GRCh37:
Chr1:156084719
GRCh38:
Chr1:156114928
LMNAP4Anot provided, Charcot-Marie-Tooth disease type 2Uncertain significance
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:156084719
GRCh38:
Chr1:156114928
LMNAP4SCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 26, 2021)		criteria provided, single submitter
45.
GRCh37:
Chr1:156084720
GRCh38:
Chr1:156114929
LMNAP4QCharcot-Marie-Tooth disease type 2Likely pathogenic
(Oct 13, 2022)		criteria provided, single submitter
46.
GRCh37:
Chr1:156084720
GRCh38:
Chr1:156114929
LMNAP4LCharcot-Marie-Tooth disease type 2Uncertain significance
(Jul 6, 2022)		criteria provided, single submitter
47.
GRCh37:
Chr1:156084720
GRCh38:
Chr1:156114929
LMNAP4RCharcot-Marie-Tooth disease type 2Pathogenic
(Sep 1, 2021)		criteria provided, single submitter
48.
GRCh37:
Chr1:156084721
GRCh38:
Chr1:156114930
LMNACharcot-Marie-Tooth disease type 2Likely benign
(Jan 15, 2020)		criteria provided, single submitter
49.
GRCh37:
Chr1:156084721
GRCh38:
Chr1:156114930
LMNACardiovascular phenotype, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not specified, Cardiomyopathy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Familial partial lipodystrophy, Dunnigan typeDilated cardiomyopathy 1A,
Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2, Congenital muscular dystrophy due to LMNA mutation,
Charcot-Marie-Tooth disease type 2B1, ...see more		Benign/Likely benign
(Sep 15, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr1:156084722
GRCh38:
Chr1:156114931
LMNAS5fsCharcot-Marie-Tooth disease type 2Pathogenic
(Mar 18, 2022)		criteria provided, single submitter
51.
GRCh37:
Chr1:156084723
GRCh38:
Chr1:156114932
LMNAQ6fsCharcot-Marie-Tooth disease type 2Pathogenic
(Mar 18, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr1:156084724
GRCh38:
Chr1:156114933
LMNACharcot-Marie-Tooth disease type 2Likely benign
(Mar 23, 2022)		criteria provided, single submitter
53.
GRCh37:
Chr1:156084725
GRCh38:
Chr1:156114934
LMNA, LOC129931597Q6*Primary dilated cardiomyopathyPathogenic
(Jun 2, 2011)		criteria provided, single submitter
54.
GRCh37:
Chr1:156084728
GRCh38:
Chr1:156114937
LMNA, LOC129931597R7WCharcot-Marie-Tooth disease type 2Uncertain significance
(Sep 2, 2021)		criteria provided, single submitter
55.
GRCh37:
Chr1:156084729
GRCh38:
Chr1:156114938
LMNA, LOC129931597R7QCharcot-Marie-Tooth disease type 2, Cardiomyopathy, not specified
Uncertain significance
(Jan 17, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr1:156084730
GRCh38:
Chr1:156114939
LMNA, LOC129931597Charcot-Marie-Tooth disease type 2Likely benign
(Aug 1, 2022)		criteria provided, single submitter
57.
GRCh37:
Chr1:156084731
GRCh38:
Chr1:156114940
LMNA, LOC129931597R8SCharcot-Marie-Tooth disease type 2Uncertain significance
(May 30, 2022)		criteria provided, single submitter
58.
GRCh37:
Chr1:156084731
GRCh38:
Chr1:156114940
LMNA, LOC129931597R8CCharcot-Marie-Tooth disease type 2Uncertain significance
(Nov 3, 2021)		criteria provided, single submitter
59.
GRCh37:
Chr1:156084731
GRCh38:
Chr1:156114940
LMNA, LOC129931597R8GCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
60.
GRCh37:
Chr1:156084732
GRCh38:
Chr1:156114941
LMNA, LOC129931597R8HCharcot-Marie-Tooth disease type 2, Cardiovascular phenotypeUncertain significance
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr1:156084733
GRCh38:
Chr1:156114942
LMNA, LOC129931597Cardiomyopathy, Charcot-Marie-Tooth disease type 2Likely benign
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:156084734
GRCh38:
Chr1:156114943
LMNA, LOC129931597A9Tnot provided, Charcot-Marie-Tooth disease type 2Uncertain significance
(Dec 27, 2021)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr1:156084734
GRCh38:
Chr1:156114943
LMNA, LOC129931597A9PCharcot-Marie-Tooth disease type 2Uncertain significance
(Mar 19, 2022)		criteria provided, single submitter
64.
GRCh37:
Chr1:156084736-156084737
GRCh38:
Chr1:156114945-156114946
LMNA, LOC129931597T10fsnot providednot providedno assertion provided
65.
GRCh37:
Chr1:156084737
GRCh38:
Chr1:156114946
LMNA, LOC129931597T10PCharcot-Marie-Tooth disease type 2Likely pathogenic
(Oct 13, 2022)		criteria provided, single submitter
66.
GRCh37:
Chr1:156084738
GRCh38:
Chr1:156114947
LMNA, LOC129931597R11fsnot providednot providedno assertion provided
67.
GRCh37:
Chr1:156084738
GRCh38:
Chr1:156114947
LMNA, LOC129931597T10IInborn genetic diseases, Familial partial lipodystrophy, Dunnigan type, not provided
Pathogenic/Likely pathogenic
(Mar 15, 2016)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr1:156084740
GRCh38:
Chr1:156114949
LMNA, LOC129931597R11CCardiovascular phenotypeUncertain significance
(Jun 14, 2023)		criteria provided, single submitter
69.
GRCh37:
Chr1:156084741
GRCh38:
Chr1:156114950
LMNA, LOC129931597R11LCharcot-Marie-Tooth disease type 2Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
70.
GRCh37:
Chr1:156084746
GRCh38:
Chr1:156114955
LMNA, LOC129931597G13RCardiomyopathyUncertain significance
(Nov 28, 2017)		criteria provided, single submitter
71.
GRCh37:
Chr1:156084749
GRCh38:
Chr1:156114958
LMNA, LOC129931597A14TCharcot-Marie-Tooth disease type 2Uncertain significance
(May 29, 2022)		criteria provided, single submitter
72.
GRCh37:
Chr1:156084750
GRCh38:
Chr1:156114959
LMNA, LOC129931597A14Enot providedUncertain significance
(Apr 8, 2021)		criteria provided, single submitter
73.
GRCh37:
Chr1:156084751
GRCh38:
Chr1:156114960
LMNA, LOC129931597Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2Likely benign
(Feb 3, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr1:156084752
GRCh38:
Chr1:156114961
LMNA, LOC129931597Q15*Charcot-Marie-Tooth disease type 2Pathogenic
(Sep 1, 2022)		criteria provided, single submitter
75.
GRCh37:
Chr1:156084753
GRCh38:
Chr1:156114962
LMNA, LOC129931597Q15PCharcot-Marie-Tooth disease type 2Uncertain significance
(May 3, 2022)		criteria provided, single submitter
76.
GRCh37:
Chr1:156084756
GRCh38:
Chr1:156114965
LOC129931597, LMNAA16DCharcot-Marie-Tooth disease type 2, Familial partial lipodystrophy, Dunnigan type, Dilated cardiomyopathy 1A,
Mandibuloacral dysplasia with type A lipodystrophy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Charcot-Marie-Tooth disease type 2B1,
Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Restrictive dermopathy 2,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian typeHutchinson-Gilford syndrome,
...see more		Uncertain significance
(Nov 15, 2021)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr1:156084756
GRCh38:
Chr1:156114965
LMNA, LOC129931597S17fsnot providedPathogenic
(Jan 20, 2015)		criteria provided, single submitter
78.
GRCh37:
Chr1:156084759-156084760
GRCh38:
Chr1:156114968-156114969
LMNA, LOC129931597T19fsCharcot-Marie-Tooth disease type 2Pathogenic
(Sep 1, 2021)		criteria provided, single submitter
79.
GRCh37:
Chr1:156084760
GRCh38:
Chr1:156114969
LMNA, LOC129931597Cardiovascular phenotype, Limb-Girdle Muscular Dystrophy, Recessive, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules,
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, not specified,
not provided, Emery-Dreifuss muscular dystrophy, Cardiomyopathy,
Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutationFamilial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Lethal tight skin contracture syndrome, Heart-hand syndrome, Slovenian type,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Charcot-Marie-Tooth disease type 2B1, Restrictive dermopathy 2,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Mandibuloacral dysplasia with type A lipodystrophy, Hutchinson-Gilford syndrome,
Familial partial lipodystrophy, Dunnigan type, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Congenital muscular dystrophy due to LMNA mutation, ...see more		Benign/Likely benign
(Sep 1, 2023)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr1:156084766
GRCh38:
Chr1:156114975
LMNA, LOC129931597Cardiovascular phenotypeLikely benign
(Feb 2, 2020)		criteria provided, single submitter
81.
GRCh37:
Chr1:156084768
GRCh38:
Chr1:156114977
LMNA, LOC129931597P20LCongenital muscular dystrophy due to LMNA mutationLikely pathogenic
(Dec 18, 2017)		criteria provided, single submitter
82.
GRCh37:
Chr1:156084771
GRCh38:
Chr1:156114980
LMNA, LOC129931597L21PCharcot-Marie-Tooth disease type 2, Developmental regression, Relative macrocephaly,
Severe muscular hypotonia		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:156084773
GRCh38:
Chr1:156114982
LMNA, LOC129931597S22Anot providedLikely pathogenic
(Feb 20, 2014)		criteria provided, single submitter
84.
GRCh37:
Chr1:156084774
GRCh38:
Chr1:156114983
LMNA, LOC129931597S22fsnot providedPathogenic
(Aug 12, 2019)		criteria provided, single submitter
85.
GRCh37:
Chr1:156084774
GRCh38:
Chr1:156114983
LMNA, LOC129931597S22LCharcot-Marie-Tooth disease type 2, not provided, Familial partial lipodystrophy, Dunnigan type,
Hutchinson-Gilford syndrome, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian typeMandibuloacral dysplasia with type A lipodystrophy,
Restrictive dermopathy 2, Cardiomyopathy, Dilated cardiomyopathy 1A,
...see more		Conflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr1:156084774-156084775
GRCh38:
Chr1:156114983-156114984
LMNA, LOC129931597S22fsnot providedPathogenic
(Apr 29, 2016)		criteria provided, single submitter
87.
GRCh37:
Chr1:156084775
GRCh38:
Chr1:156114984
LMNA, LOC129931597Cardiovascular phenotypeLikely benign
(Feb 2, 2020)		criteria provided, single submitter
88.
GRCh37:
Chr1:156084775
GRCh38:
Chr1:156114984
LMNA, LOC129931597not providedUncertain significance
(Aug 27, 2019)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr1:156084780
GRCh38:
Chr1:156114989
LMNA, LOC129931597T24ICardiovascular phenotype, Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
Heart-hand syndrome, Slovenian type, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Restrictive dermopathy 2, Familial partial lipodystrophy, Dunnigan type, Congenital muscular dystrophy due to LMNA mutation,
Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophyCharcot-Marie-Tooth disease type 2B1,
...see more		Uncertain significance
(Apr 6, 2023)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr1:156084780
GRCh38:
Chr1:156114989
LMNA, LOC129931597T24SCharcot-Marie-Tooth disease type 2, Cardiovascular phenotypeUncertain significance
(Nov 17, 2021)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr1:156084780
GRCh38:
Chr1:156114989
LMNA, LOC129931597R25fsCharcot-Marie-Tooth disease type 2Pathogenic
(Jan 23, 2020)		criteria provided, single submitter
92.
GRCh37:
Chr1:156084781
GRCh38:
Chr1:156114990
LMNA, LOC129931597not specifiedLikely benign
(Jan 31, 2020)		criteria provided, single submitter
93.
GRCh37:
Chr1:156084782
GRCh38:
Chr1:156114991
LMNA, LOC129931597R25CCardiovascular phenotype, Charcot-Marie-Tooth disease type 2Likely pathogenic
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr1:156084782
GRCh38:
Chr1:156114991
LMNA, LOC129931597R25GCardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not provided
Pathogenic/Likely pathogenic
(Jul 18, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr1:156084783
GRCh38:
Chr1:156114992
LMNA, LOC129931597R25LCharcot-Marie-Tooth disease type 2, Cardiomyopathy, Cardiovascular phenotype,
not provided		Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
96.
GRCh37:
Chr1:156084783
GRCh38:
Chr1:156114992
LMNA, LOC129931597R25PCharcot-Marie-Tooth disease type 2Likely pathogenic
(Oct 13, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr1:156084784
GRCh38:
Chr1:156114993
LMNA, LOC129931597not provided, Charcot-Marie-Tooth disease type 2Conflicting interpretations of pathogenicity
(Jun 19, 2021)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr1:156084785
GRCh38:
Chr1:156114994
LMNA, LOC129931597I26VCharcot-Marie-Tooth disease type 2Uncertain significance
(Nov 3, 2022)		criteria provided, single submitter
99.
GRCh37:
Chr1:156084786
GRCh38:
Chr1:156114995
LMNA, LOC129931597I26Tnot providedUncertain significance
(Jan 28, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr1:156084787
GRCh38:
Chr1:156114996
LMNA, LOC129931597Charcot-Marie-Tooth disease type 2, not specified, Cardiomyopathy,
Cardiovascular phenotype, not provided		Conflicting interpretations of pathogenicity
(Sep 15, 2022)		criteria provided, conflicting interpretations
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