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Items: 1 to 100 of 106

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:
Chr1:150187139-150537483
GRCh38:
Chr1:150214843-150565007
See casesLikely benign
(Sep 21, 2012)
no assertion criteria provided
3.
GRCh37:
Chr1:150480373
GRCh38:
Chr1:150507897
ECM1not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr1:150480473
GRCh38:
Chr1:150507997
ECM1not providedLikely benign
(Jul 14, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr1:150480571
GRCh38:
Chr1:150508095
ECM1not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr1:150480589
GRCh38:
Chr1:150508113
ECM1not providedBenign
(Jul 10, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr1:150480704
GRCh38:
Chr1:150508228
ECM1A7TInborn genetic diseasesUncertain significance
(Jun 8, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr1:150481738
GRCh38:
Chr1:150509262
ECM1not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr1:150481896
GRCh38:
Chr1:150509420
ECM1not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr1:150481982
GRCh38:
Chr1:150509506
ECM1not providedLikely benign
(Jul 6, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr1:150482013
GRCh38:
Chr1:150509537
ECM1T26MInborn genetic diseasesUncertain significance
(May 1, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr1:150482029-150482030
GRCh38:
Chr1:150509553-150509554
ECM1Lipid proteinosisnot providedno assertion provided
13.
GRCh37:
Chr1:150482054
GRCh38:
Chr1:150509578
ECM1E40KInborn genetic diseasesUncertain significance
(Aug 10, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr1:150482134
GRCh38:
Chr1:150509658
ECM1Lipid proteinosisUncertain significance
(Dec 13, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr1:150482145
GRCh38:
Chr1:150509669
ECM1A44Tnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
16.
GRCh37:
Chr1:150482151
GRCh38:
Chr1:150509675
ECM1P46AInborn genetic diseasesUncertain significance
(Feb 2, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr1:150482157
GRCh38:
Chr1:150509681
ECM1S48fsLipid proteinosisLikely pathogenic
(Jan 22, 2019)
criteria provided, single submitter
18.
GRCh37:
Chr1:150482159
GRCh38:
Chr1:150509683
ECM1not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
19.
GRCh37:
Chr1:150482162
GRCh38:
Chr1:150509686
ECM1not providedLikely benign
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr1:150482172
GRCh38:
Chr1:150509696
ECM1R53*not provided, Lipid proteinosisPathogenic
(Apr 11, 2023)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:150482255
GRCh38:
Chr1:150509779
ECM1not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr1:150482278
GRCh38:
Chr1:150509802
ECM1not providedLikely benign
(Jul 10, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr1:150482306
GRCh38:
Chr1:150509830
ECM1Inborn genetic diseasesUncertain significance
(Oct 29, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr1:150482403
GRCh38:
Chr1:150509927
ECM1P77S, P104SInborn genetic diseasesUncertain significance
(Aug 10, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr1:150482403
GRCh38:
Chr1:150509927
ECM1P78fs, P105fsnot provided, ECM1-related condition, Lipid proteinosis
Pathogenic/Likely pathogenic
(Jun 13, 2023)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:150482405
GRCh38:
Chr1:150509929
ECM1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
27.
GRCh37:
Chr1:150482406
GRCh38:
Chr1:150509930
ECM1P78S, P105SInborn genetic diseasesUncertain significance
(Jan 26, 2023)
criteria provided, single submitter
28.
GRCh37:
Chr1:150482411-150482412
GRCh38:
Chr1:150509935-150509936
ECM1Q108fs, Q81fsECM1-related conditionLikely pathogenic
(Apr 10, 2023)
criteria provided, single submitter
29.
GRCh37:
Chr1:150482456
GRCh38:
Chr1:150509980
ECM1not providedLikely benign
(Feb 27, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr1:150482478
GRCh38:
Chr1:150510002
ECM1V102M, V129MInborn genetic diseasesUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr1:150482639
GRCh38:
Chr1:150510163
ECM1Lipid proteinosis, not providedBenign/Likely benign
(Apr 11, 2023)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr1:150482738
GRCh38:
Chr1:150510262
ECM1not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr1:150483236
GRCh38:
Chr1:150510760
ECM1not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr1:150483347
GRCh38:
Chr1:150510871
ECM1Inborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Mar 10, 2022)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr1:150483355
GRCh38:
Chr1:150510879
ECM1T130M, T157MLipid proteinosis, not providedBenign
(Jul 30, 2021)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr1:150483402
GRCh38:
Chr1:150510926
ECM1N173Y, N146YInborn genetic diseasesUncertain significance
(Mar 20, 2023)
criteria provided, single submitter
37.
GRCh37:
Chr1:150483446
GRCh38:
Chr1:150510970
ECM1W160*, W187*Lipid proteinosisPathogenic
(Mar 1, 2003)
no assertion criteria provided
38.
GRCh37:
Chr1:150483465
GRCh38:
Chr1:150510989
ECM1F167V, F194VECM1-related conditionUncertain significance
(Nov 17, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr1:150483465
GRCh38:
Chr1:150510989
ECM1F167I, F194ILipid proteinosisLikely pathogenic
(Jun 24, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr1:150483466-150483467
GRCh38:
Chr1:150510990-150510991
ECM1G170fs, G197fsnot providedPathogenic
(Oct 23, 2020)
criteria provided, single submitter
41.
GRCh37:
Chr1:150483469
GRCh38:
Chr1:150510993
ECM1P195H, P168HInborn genetic diseasesUncertain significance
(May 17, 2023)
criteria provided, single submitter
42.
GRCh37:
Chr1:150483471
GRCh38:
Chr1:150510995
ECM1P169A, P196Anot provided, Lipid proteinosis, Inborn genetic diseases
Uncertain significance
(Jun 6, 2023)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr1:150483473
GRCh38:
Chr1:150510997
ECM1R171fs, R198fsECM1-related conditionPathogenic
(Jul 18, 2023)
criteria provided, single submitter
44.
GRCh37:
Chr1:150483478
GRCh38:
Chr1:150511002
ECM1R198L, R171LInborn genetic diseasesUncertain significance
(May 23, 2023)
criteria provided, single submitter
45.
GRCh37:
Chr1:150483478
GRCh38:
Chr1:150511002
ECM1R171Q, R198QInborn genetic diseasesUncertain significance
(Dec 6, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr1:150483508-150483509
GRCh38:
Chr1:150511032-150511033
ECM1C181*, C208*Lipid proteinosisPathogenic
(Jun 24, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr1:150483610
GRCh38:
Chr1:150511134
ECM1I215T, I242TInborn genetic diseasesLikely benign
(Nov 10, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr1:150483624
GRCh38:
Chr1:150511148
ECM1C220G, C247GLipid proteinosisnot providedno assertion provided
49.
GRCh37:
Chr1:150483840
GRCh38:
Chr1:150511364
ECM1not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr1:150483938
GRCh38:
Chr1:150511462
ECM1not providedLikely benign
(Dec 20, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr1:150483951
GRCh38:
Chr1:150511475
ECM1R243*, R270*Lipid proteinosisnot providedno assertion provided
52.
GRCh37:
Chr1:150483966
GRCh38:
Chr1:150511490
ECM1E248*, E275*Lipid proteinosisnot providedno assertion provided
53.
GRCh37:
Chr1:150483984
GRCh38:
Chr1:150511508
ECM1R254*, R281*not providedPathogenic
(Oct 23, 2020)
criteria provided, single submitter
54.
GRCh37:
Chr1:150484001
GRCh38:
Chr1:150511525
ECM1not providedLikely benign
(Jan 1, 2023)
criteria provided, single submitter
55.
GRCh37:
Chr1:150484004
GRCh38:
Chr1:150511528
ECM1not providedBenign
(Jul 5, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr1:150484016
GRCh38:
Chr1:150511540
ECM1Lipid proteinosis, not providedBenign
(Apr 11, 2023)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:150484030
GRCh38:
Chr1:150511554
ECM1C269Y, C296YLipid proteinosisPathogenic
(Aug 9, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr1:150484050
GRCh38:
Chr1:150511574
ECM1Q276*, Q303*Lipid proteinosisnot providedno assertion provided
59.
GRCh37:
Chr1:150484069
GRCh38:
Chr1:150511593
ECM1R282Q, R309QInborn genetic diseasesUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr1:150484102
GRCh38:
Chr1:150511626
ECM1S293L, S320LInborn genetic diseasesUncertain significance
(May 23, 2023)
criteria provided, single submitter
61.
GRCh37:
Chr1:150484194
GRCh38:
Chr1:150511718
ECM1N351H, N324HInborn genetic diseasesUncertain significance
(Jul 13, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr1:150484226
GRCh38:
Chr1:150511750
ECM1not providedLikely benign
(May 31, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr1:150484243
GRCh38:
Chr1:150511767
ECM1Q340fs, Q367fsLipid proteinosisLikely pathogenic
(Oct 7, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr1:150484257
GRCh38:
Chr1:150511781
ECM1F345I, F372IInborn genetic diseasesUncertain significance
(Oct 27, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr1:150484260
GRCh38:
Chr1:150511784
ECM1Q346*, Q373*Lipid proteinosisPathogenic
(Apr 1, 2002)
no assertion criteria provided
66.
GRCh37:
Chr1:150484317
GRCh38:
Chr1:150511841
ECM1not provided, Lipid proteinosisBenign/Likely benign
(Apr 11, 2023)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr1:150484396-150484397
GRCh38:
Chr1:150511920-150511921
ECM1not providedBenign
(Oct 2, 2019)
criteria provided, single submitter
68.
GRCh37:
Chr1:150484555
GRCh38:
Chr1:150512079
ECM1not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr1:150484631
GRCh38:
Chr1:150512155
ECM1not providedLikely benign
(Jul 10, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr1:150484844
GRCh38:
Chr1:150512368
ECM1D367V, D394V, D242VLipid proteinosis, not providedBenign/Likely benign
(Apr 11, 2023)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr1:150484858
GRCh38:
Chr1:150512382
ECM1R372W, R399W, R247Wnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
72.
GRCh37:
Chr1:150484898
GRCh38:
Chr1:150512422
ECM1R385H, R260H, R412Hnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
73.
GRCh37:
Chr1:150484951-150484952
GRCh38:
Chr1:150512475-150512476
ECM1N279*, N404*, N431*Lipid proteinosisPathogenic
(May 22, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr1:150484964
GRCh38:
Chr1:150512488
ECM1R282Q, R434Q, R407QInborn genetic diseasesUncertain significance
(Mar 1, 2023)
criteria provided, single submitter
75.
GRCh37:
Chr1:150484986
GRCh38:
Chr1:150512510
ECM1not providedBenign/Likely benign
(Aug 1, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:150484987
GRCh38:
Chr1:150512511
ECM1G290S, G415S, G442SLipid proteinosisBenign
(Jul 30, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr1:150484990
GRCh38:
Chr1:150512514
ECM1R443*, R291*, R416*Lipid proteinosisLikely pathogeniccriteria provided, single submitter
78.
GRCh37:
Chr1:150485030-150485031
GRCh38:
Chr1:150512554-150512555
ECM1R305fs, R430fs, R457fsLipid proteinosisPathogenic
(Mar 22, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr1:150485053-150485054
GRCh38:
Chr1:150512577-150512578
ECM1not providedBenign
(Oct 2, 2019)
criteria provided, single submitter
80.
GRCh37:
Chr1:150485082-150486244
GRCh38:
Chr1:150512606-150513768
ECM1Lipid proteinosisPathogenic
(Apr 1, 2002)
no assertion criteria provided
81.
GRCh37:
Chr1:150485176
GRCh38:
Chr1:150512700
ECM1not providedBenign
(Jul 10, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr1:150485239
GRCh38:
Chr1:150512763
ECM1R323H, R448H, R475Hnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
83.
GRCh37:
Chr1:150485531
GRCh38:
Chr1:150513055
ECM1not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr1:150485566
GRCh38:
Chr1:150513090
ECM1not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr1:150485571
GRCh38:
Chr1:150513095
ECM1not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr1:150485599
GRCh38:
Chr1:150513123
ECM1not providedBenign
(Jul 10, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr1:150485712
GRCh38:
Chr1:150513236
ECM1Lipid proteinosisPathogenic
(Aug 7, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr1:150485723
GRCh38:
Chr1:150513247
ECM1F468C, F495C, F343CInborn genetic diseasesUncertain significance
(Dec 19, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr1:150485749
GRCh38:
Chr1:150513273
ECM1R504C, R352C, R477CInborn genetic diseasesUncertain significance
(Jan 5, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr1:150485766-150485770
GRCh38:
Chr1:150513290-150513294
ECM1A359fs, A484fs, A511fsLipid proteinosisPathogenic
(Dec 7, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr1:150485832
GRCh38:
Chr1:150513356
ECM1not providedLikely benign
(Dec 26, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr1:150485868
GRCh38:
Chr1:150513392
ECM1not providedBenign
(Nov 27, 2017)
criteria provided, single submitter
93.
GRCh37:
Chr1:150485884
GRCh38:
Chr1:150513408
ECM1E549Q, E397Q, E522QInborn genetic diseasesUncertain significance
(Jul 11, 2023)
criteria provided, single submitter
94.
GRCh37:
Chr1:150485920
GRCh38:
Chr1:150513444
ECM1T561A, T409A, T534AInborn genetic diseasesUncertain significance
(Aug 2, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr1:150486239
GRCh38:
Chr1:150513763
ECM1not providedBenign
(Jul 14, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr1:142535935-157648813
ACP6, ADAM15, ADAMTSL4, ADAR, ANKRD34A, ANKRD35, ANP32E, ANXA9, APH1A, AQP10, ARHGEF11, ARHGEF2, ARNT, ASH1L, ATP8B2, BCAN, BCL9, BGLAP, BNIPL, BOLA1, C1orf43, C1orf54, C1orf56, C2CD4D, CA14, CCT3, CD160, CDC42SE1, CELF3, CERS2, CFAP141, CGN, CHD1L, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CRABP2, CRCT1, CREB3L4, CRNN, CRTC2, CTSK, CTSS, DAP3, DCST1, DCST2, DENND4B, DPM3, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ENTREP3, ETV3, ETV3L, FALEC, FAM72C, FAM72D, FCGR1A, FCRL3, FCRL4, FCRL5, FDPS, FLAD1, FLG, FLG2, FMO5, GABPB2, GATAD2B, GBA1, GJA5, GJA8, GLMP, GOLPH3L, GON4L, GPATCH4, GPR89A, GPR89B, H2AC18, H2AC19, H2AC20, H2AC21, H2BC18, H2BC21, H3C13, H3C14, H3C15, H4C14, H4C15, HAPLN2, HAX1, HCN3, HDGF, HJV, HORMAD1, HRNR, IL6R, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, ITGA10, IVL, JTB, KCNN3, KHDC4, KPLCE, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LELP1, LENEP, LINGO4, LIX1L, LMNA, LOC101928034, LORICRIN, LRRC71, LYSMD1, MCL1, MEF2D, METTL25B, MEX3A, MINDY1, MIR9-1, MIR9-1HG, MLLT11, MRPL24, MRPL9, MRPS21, MSTO1, MTMR11, MTX1, MUC1, NAXE, NBPF10, NBPF11, NBPF12, NBPF15, NBPF8, NBPF9, NES, NOTCH2NLA, NPR1, NTRK1, NUDT17, NUP210L, OAZ3, OTUD7B, PAQR6, PBXIP1, PDE4DIP, PDZK1, PEAR1, PEX11B, PGLYRP3, PGLYRP4, PI4KB, PIAS3, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGZ, POLR3C, POLR3GL, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PRCC, PRKAB2, PRPF3, PRR9, PRUNE1, PSMB4, PSMD4, PYGO2, RAB13, RAB25, RBM8A, RFX5, RHBG, RIIAD1, RIT1, RNF115, RORC, RPRD2, RPS27, RPTN, RUSC1, RUSC1-AS1, RXFP4, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCNM1, SELENBP1, SEMA4A, SEMA6C, SETDB1, SF3B4, SH2D2A, SHC1, SHE, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SMCP, SMG5, SNAPIN, SNX27, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SRGAP2B, SSR2, SV2A, SYT11, TARS2, TCHH, TCHHL1, TDRD10, TDRKH, THBS3, THEM4, THEM5, TMEM79, TMOD4, TNFAIP8L2, TPM3, TRH-GTG2-1, TRIM46, TRN-GTT2-7, TSACC, TTC24, TUFT1, TXNIP, UBAP2L, UBE2Q1, UBQLN4, VHLL, VPS45, VPS72, YY1AP1, ZBTB7B, ZNF687
Chromosome 1q21.1 duplication syndromePathogenic
(Oct 12, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr1:149895434-156851434
KCNN3, KHDC4, KPLCE, KPRP, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, KRTCAP2, LAMTOR2, LCE3B, LCE3A, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LELP1, LENEP, LINGO4, LMNA, LOC101928034, LORICRIN, LYSMD1, MCL1, MEF2D, METTL25B, MEX3A, MINDY1, MIR9-1, MIR9-1HG, MLLT11, MRPL24, MRPL9, MRPS21, MSTO1, MTMR11, MTX1, MUC1, NAXE, NES, NPR1, NTRK1, NUP210L, OAZ3, OTUD7B, PAQR6, PBXIP1, PGLYRP3, PGLYRP4, PI4KB, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGZ, PRCC, PRPF3, PRR9, PRUNE1, PSMB4, PSMD4, PYGO2, RAB13, RAB25, RFX5, RHBG, RIIAD1, RIT1, RORC, RPRD2, RPS27, RPTN, RUSC1, RUSC1-AS1, RXFP4, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCNM1, SELENBP1, SEMA4A, SEMA6C, SETDB1, SF3B4, SH2D2A, SHC1, SHE, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SMCP, SMG5, SNAPIN, SNX27, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SSR2, SYT11, TARS2, TCHH, TCHHL1, TDRD10, TDRKH, THBS3, THEM4, THEM5, TMEM79, TMOD4, TNFAIP8L2, TPM3, TRIM46, TSACC, TTC24, TUFT1, UBAP2L, UBE2Q1, UBQLN4, VHLL, VPS45, VPS72, YY1AP1, ZBTB7B, ZNF687, ADAM15, ADAMTSL4, ADAR, ANP32E, ANXA9, APH1A, AQP10, ARHGEF2, ARNT, ASH1L, ATP8B2, BCAN, BGLAP, BNIPL, C1orf43, C1orf54, C1orf56, C2CD4D, CA14, CCT3, CDC42SE1, CELF3, CERS2, CFAP141, CGN, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CRABP2, CRCT1, CREB3L4, CRNN, CRTC2, CTSK, CTSS, DAP3, DCST1, DCST2, DENND4B, DPM3, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ENTREP3, FALEC, FDPS, FLAD1, FLG, FLG2, GABPB2, GATAD2B, GBA1, GLMP, GOLPH3L, GON4L, GPATCH4, HAPLN2, HAX1, HCN3, HDGF, HORMAD1, HRNR, IL6R, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, IVL, JTB
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Congenital neutropenia-myelofibrosis-nephromegaly syndrome, MHC class II deficiency,
Kostmann syndrome
Uncertain significance
(Mar 25, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr1:130980840-248900000
BGLAP, BLZF1, CFAP126, DUSP12, DUSP23, FMO1, IGFN1, IGSF8, LCE5A, MRPS21, MSTO1, MT1HL1, MTARC1, OR10R2, OR10T2, PEAR1, PTPN7, S100A11, S100A12, S100A13, S100A14, SNRPE, TMEM63A, TMEM79, ZBTB37, ZBTB41, ZP4, ZNF124, ZNF687, ZNF695, ZNF281, ZNF496, ZNF648, ZNF669, ZNF670, ZNF678, TMEM81, TMEM9, TMOD4, TNFAIP8L2, TNFSF18, TNFSF4, TNN, TNNI1, TOR3A, TP53BP2, TPM3, TPR, TRAF3IP3, TRAF5, TRH-GTG2-1, SNX27, SOAT1, SOX13, SPRR1B, SPRR2D, SPRR2A, SPRR2B, ZBTB7B, ZC3H11A, SPATA17, SPATA45, SPATA46, SPHAR, S100A5, SCNM1, SCYL3, S100A16, S100A2, S100A3, S100A4, S100A6, S100A7, S100A7A, S100A8, S100A9, SPMIP3, SPRR1A, RABGAP1L, RABIF, PYCR2, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RAB29, RAB3GAP2, RAB4A, SCAMP3, SCCPDH, PI4KB, PIGC, PIAS3, PFKFB2, PGBD5, PGLYRP3, PGLYRP4, PHLDA3, PTPRC, OR2AK2, OR2B11, OR14A16, OR14C36, OR1C1, OR2C3, PEX11B, PEX19, PFDN2, OR11L1, OR13G1, OR14I1, OR10X1, OR10Z1, MTR, MTX1, MUC1, NAV1, NAXE, NBPF10, NBPF11, NBPF12, NBPF15, MTARC2, MTMR11, MYBPH, MYOC, MYOG, LPGAT1, LRRC52, LEFTY2, LELP1, LEMD1, LENEP, LGALS8, LCE6A, LEFTY1, LGR6, LIX1L, IL24, IL6R, ILDR2, IL20, ILF2, INAVA, INSRR, INTS3, INTS7, IGSF9, IKBKE, IKBKE-AS1, IPO9, IQGAP3, IRF2BP2, IL10, IL19, GNPAT, GOLPH3L, GOLT1A, GALNT2, GABPB2, GAS5, GON4L, GARIN4, ELF3, ELK4, ENAH, ENSA, ENTREP3, EDEM3, EFCAB2, DYRK3, ECM1, EDARADD, EPHX1, EPRS1, EFNA1, EFNA3, EFNA4, EGLN1, EIF2D, CHTOP, CFHR2, CFHR3, CFAP141, CFAP45, CFHR4, CIART, CKS1B, CLK2, CFH, CFHR1, CFHR5, CGN, CHRNB2, C1orf116, C1orf131, C1orf198, BNIPL, BOLA1, C1orf43, C1orf21, C1orf226, C1orf35, BPNT1, BRINP2, BRINP3, BROX, BTG2, BTNL10, C1orf105, C1orf115, ABCB10, ACTN2, ADAM15, ACP6, ACTA1, ABL2, ACBD3, ACBD6, ACKR1, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADIPOR1, ADORA1, ADSS2, AGT, AHCTF1, AIDA, AIM2, AKT3, ALDH9A1, ANGEL2, ANGPTL1, ANKRD34A, ANKRD35, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, APOBEC4, AQP10, ARF1, ARHGAP30, ARHGEF11, ARHGEF2, ARID4B, ARL8A, ARNT, ARPC5, ARV1, ASCL5, ASH1L, ASPM, ASTN1, ATF3, ATF6, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP6V1G3, ATP8B2, AVPR1B, AXDND1, B3GALNT2, B3GALT2, B4GALT3, BATF3, BCAN, BCL9, C1orf53, C1orf54, C1orf56, C1orf74, C2CD4D, C4BPA, C4BPB, CA14, CACNA1E, CACNA1S, CACYBP, CADM3, CAMK1G, CAMSAP2, CAPN2, CAPN8, CAPN9, CASQ1, CATSPERE, CCDC181, CCDC185, CCDC190, CCSAP, CCT3, CD160, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD34, CD46, CD48, CD55, CD5L, CD84, CDC42BPA, CDC42SE1, CDC73, CDK18, CELF3, CENPF, CENPL, CEP170, CEP350, CERS2, CHD1L, CHI3L1, CHIT1, CHML, CHRM3, CNIH3, CNIH4, CNST, CNTN2, COA6, COG2, COLGALT2, COP1, COPA, COQ8A, COX20, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CSRP1, CTSE, CTSK, CTSS, CYB5R1, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST2, DDR2, DDX59, DEDD, DEGS1, DENND1B, DENND4B, DESI2, DHX9, DISC1, DISC2, DISP1, DNAH14, DNM3, DNM3OS, DPM3, DPT, DSTYK, DTL, DUSP10, ERO1B, ESRRG, ETNK2, ETV3, ETV3L, EXO1, EXOC8, F11R, F13B, F5, FALEC, FAM163A, FAM177B, FAM20B, FAM72A, FAM72C, FAM72D, FAM78B, FAM89A, FASLG, FBXO28, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FH, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO2, FMO3, FMO4, FMO5, FMOD, G0S2, GATAD2B, GBA1, GCSAML, GGPS1, GJA5, GJA8, GJC2, GLMP, GLRX2, GLUL, GNG4, GORAB, GPA33, GPATCH2, GPATCH4, GPR137B, GPR161, GPR25, GPR37L1, GPR52, GPR89A, GPR89B, GREM2, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, HAPLN2, HAX1, HCN3, HDGF, HEATR1, HHAT, HHIPL2, HJV, HLX, HMCN1, HNRNPU, HORMAD1, HRNR, HSD11B1, HSD17B7, HSPA6, IARS2, IBA57, IER5, IFI16, IRF6, ISG20L2, ITGA10, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JMJD4, JTB, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNT2, KCTD3, KDM5B, KHDC4, KIAA0040, KIAA1614, KIF14, KIF21B, KIF26B, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLHDC8A, KLHDC9, KLHL12, KLHL20, KMO, KPLCE, KPRP, KRTCAP2, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LHX4, LHX9, LIN9, LINC00538, LINC02897, LINGO4, LMNA, LMOD1, LMX1A, LNCATV, LOC101928034, LORICRIN, LRRC71, LRRN2, LY9, LYPLAL1, LYSMD1, LYST, MAEL, MAP10, MAP1LC3C, MAP3K21, MAPKAPK2, MARK1, MCL1, MDM4, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MFSD4A, MGST3, MIA3, MINDY1, MIR181A1, MIR181B1, MIR194-1, MIR199A2, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR3120, MIR9-1, MIR9-1HG, MIXL1, MLLT11, MNDA, MPC2, MPZ, MPZL1, MR1, MROH9, MRPL24, MRPL55, MRPL9, MRPS14, NBPF8, NBPF9, NCF2, NCSTN, NDUFS2, NECTIN4, NEK2, NEK7, NENF, NES, NFASC, NHLH1, NIBAN1, NID1, NIT1, NLRP3, NME7, NMNAT2, NOS1AP, NOTCH2NLA, NPHS2, NPL, NPR1, NR1I3, NR5A2, NSL1, NTMT2, NTPCR, NTRK1, NUAK2, NUCKS1, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODR4, OLFML2B, OPN3, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PACC1, PAPPA2, PAQR6, PARP1, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PDC, PDE4DIP, PDZK1, PEA15, PIGM, PIGR, PIK3C2B, PIP5K1A, PKLR, PKP1, PLA2G4A, PLD5, PLEKHA6, PLEKHO1, PLXNA2, PM20D1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POLR3C, POLR3GL, POU2F1, PPFIA4, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPOX, PPP1R12B, PPP1R15B, PPP2R5A, PRCC, PRDX6, PRELP, PRG4, PRKAB2, PROX1, PRPF3, PRR9, PRRC2C, PRRX1, PRSS38, PRUNE1, PSEN2, PSMB4, PSMD4, PTGS2, PTPN14, RALGPS2, RASAL2, RASSF5, RBBP5, RBM34, RBM8A, RC3H1, RCOR3, RCSD1, RD3, REN, RFX5, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS21, RGS4, RGS5, RGS7, RGS8, RGSL1, RHBG, RHEX, RHOU, RIIAD1, RIT1, RNASEL, RNF115, RNF187, RNF2, RNPEP, RO60, RORC, RPRD2, RPS27, RPS6KC1, RPTN, RRP15, RUSC1, RUSC1-AS1, RXFP4, RXRG, RYR2, S100A1, S100A10, SDCCAG8, SDE2, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SEMA6C, SERPINC1, SERTAD4, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHCBP1L, SHE, SHISA4, SIPA1L2, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC26A9, SLC27A3, SLC30A1, SLC30A10, SLC35F3, SLC39A1, SLC41A1, SLC45A3, SLC50A1, SLC9C2, SMCP, SMG5, SMG7, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, SPTA1, SRGAP2, SRGAP2B, SRP9, SSR2, STUM, STX6, STYXL2, SUCO, SUSD4, SV2A, SWT1, SYT11, SYT14, SYT2, TADA1, TAF1A, TAF5L, TAGLN2, TARBP1, TARS2, TATDN3, TBCE, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TEDDM1, TEX35, TFB2M, TGFB2, THBS3, THEM4, THEM5, TIMM17A, TIPRL, TLR5, TMCC2, TMCO1, TMEM183A, TNNT2, TNR, TOMM20, TOMM40L, TOR1AIP1, TOR1AIP2, TRIM11, TRIM17, TRIM46, TRIM58, TRIM67, TRMT1L, TRN-GTT2-7, TSACC, TSEN15, TSNAX, TSTD1, TTC13, TTC24, TUFT1, TXNIP, UAP1, UBAP2L, UBE2Q1, UBE2T, UBQLN4, UCHL5, UCK2, UFC1, UHMK1, URB2, USF1, USH2A, USP21, UTP25, VAMP4, VANGL2, VASH2, VHLL, VN1R5, VPS45, VPS72, VSIG8, WDR26, WDR64, WNT3A, WNT9A, XCL1, XCL2, XPR1, YOD1, YY1AP1, ZBED6, ZBTB18
Paragangliomas 3, Gastrointestinal stroma tumor, Parathyroid carcinoma
Uncertain significance
(Feb 14, 2020)
criteria provided, single submitter
99.
GRCh37:
Chr1:150270870-150527943
ADAMTSL4, ECM1, FALEC, MRPS21, PRPF3, RPRD2, TARS2not providedUncertain significance
(Jun 8, 2017)
no assertion criteria provided
100.
GRCh37:
Chr1:150455813-150526044
ADAMTSL4, ECM1, FALEC, TARS2not providedBenign
(Dec 14, 2012)
no assertion criteria provided
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