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Items: 1 to 100 of 368

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:
Chr1:154548165-155262692
GRCh38:
Chr1:154575689-155292901
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr1:154979022-155434054
GRCh38:
Chr1:155006546-155464263
See casesUncertain significance
(Apr 30, 2011)
no assertion criteria provided
5.
GRCh37:
Chr1:155154933-155757219
GRCh38:
Chr1:155182457-155787428
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr1:155204687-155204855
GRCh38:
Chr1:155234896-155235064
GBA1, LOC106627981A428fs, A466fs, A515fsnot providedLikely pathogenic
(Sep 12, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr1:155204694
GRCh38:
Chr1:155234903
GBA1, LOC106627981Gaucher disease type II, Parkinson disease, late-onset, Lewy body dementia,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease perinatal lethal,
Gaucher disease type III
Likely benign
(Oct 4, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr1:155204791
GRCh38:
Chr1:155235000
LOC106627981, GBA1Q449*, Q487*, Q536*not providedPathogenic
(Aug 26, 2020)
criteria provided, single submitter
9.
GRCh37:
Chr1:155204793
GRCh38:
Chr1:155235002
GBA1, LOC106627981R535H, R486H, R448HInborn genetic diseases, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onset, Gaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type IIIGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
not provided, Gaucher disease, Parkinson disease, late-onset,
Gaucher disease type I, ...see more
Pathogenic/Likely pathogenic
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr1:155204794
GRCh38:
Chr1:155235003
GBA1, LOC106627981R448S, R486S, R535Snot providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr1:155204794
GRCh38:
Chr1:155235003
LOC106627981, GBA1R535C, R448C, R486Cnot provided, Gaucher disease, Gaucher disease type I
Pathogenic/Likely pathogenic
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:155204798
GRCh38:
Chr1:155235007
LOC106627981, GBA1W446*, W533*, W484*Gaucher diseasePathogenic
(Jun 15, 2023)
criteria provided, single submitter
13.
GRCh37:
Chr1:155204811
GRCh38:
Chr1:155235020
GBA1, LOC106627981H442R, H480R, H529RParkinson disease, late-onsetUncertain significance
(Mar 18, 2020)
criteria provided, single submitter
14.
GRCh37:
Chr1:155204831
GRCh38:
Chr1:155235040
GBA1, LOC106627981Gaucher diseaseUncertain significance
(Aug 13, 2020)
no assertion criteria provided
15.
GRCh37:
Chr1:155204848
GRCh38:
Chr1:155235057
GBA1, LOC106627981G517S, G430S, G468Snot providedPathogenic
(Feb 1, 2020)
criteria provided, single submitter
16.
GRCh37:
Chr1:155204849
GRCh38:
Chr1:155235058
GBA1, LOC106627981Gaucher diseaseUncertain significance
(Aug 14, 2020)
no assertion criteria provided
17.
GRCh37:
Chr1:155204860
GRCh38:
Chr1:155235069
LOC106627981, GBA1D426N, D464N, D513Nnot providedLikely pathogenic
(May 28, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr1:155204863
GRCh38:
Chr1:155235072
GBA1, LOC106627981K425*, K463*, K512*Inborn genetic diseases, not specifiedConflicting interpretations of pathogenicity
(Jul 28, 2020)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr1:155204882
GRCh38:
Chr1:155235091
LOC106627981, GBA1not specifiedLikely benign
(Jan 31, 2020)
criteria provided, single submitter
20.
GRCh37:
Chr1:155204892
GRCh38:
Chr1:155235101
GBA1, LOC106627981Gaucher disease perinatal lethalPathogenic
(Jul 15, 2004)
no assertion criteria provided
21.
GRCh37:
Chr1:155204898
GRCh38:
Chr1:155235107
GBA1, LOC106627981not providedUncertain significance
(Jul 6, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr1:155204900-155204901
GRCh38:
Chr1:155235109-155235110
GBA1, LOC106627981not provided, Gaucher disease perinatal lethal, Parkinson disease, late-onset,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III
Uncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:155204903
GRCh38:
Chr1:155235112
GBA1, LOC106627981not specified, not providedConflicting interpretations of pathogenicity
(Jun 28, 2021)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr1:155204976
GRCh38:
Chr1:155235185
LOC106627981, GBA1not providedUncertain significance
(Jan 26, 2015)
criteria provided, single submitter
25.
GRCh37:
Chr1:155204984
GRCh38:
Chr1:155235193
GBA1, LOC106627981not providedLikely pathogenic
(Mar 9, 2023)
criteria provided, single submitter
26.
GRCh37:
Chr1:155204984
GRCh38:
Chr1:155235193
GBA1, LOC106627981Gaucher diseaseLikely pathogenic
(Jun 15, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr1:155204986
GRCh38:
Chr1:155235195
GBA1, LOC106627981R502H, R453H, R415HGaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, not provided,
Gaucher disease
Pathogenic/Likely pathogenic
(Sep 20, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr1:155204987
GRCh38:
Chr1:155235196
GBA1, LOC106627981R502C, R415C, R453CInborn genetic diseases, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onset, Gaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type IIIGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
not provided, Gaucher disease, Parkinson disease, late-onset,
Gaucher disease type I, ...see more
Pathogenic
(Oct 15, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr1:155204988
GRCh38:
Chr1:155235197
LOC106627981, GBA1N414K, N452K, N501KGaucher disease type II, not providedLikely pathogenic
(Jul 13, 2021)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr1:155204994
GRCh38:
Chr1:155235203
GBA1, LOC106627981Inborn genetic diseases, not specified, not provided
Benign/Likely benign
(Jul 1, 2023)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:155204996
GRCh38:
Chr1:155235205
GBA1, LOC106627981V499M, V412M, V450Mnot provided, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Gaucher disease perinatal lethal, Parkinson disease, late-onset
Uncertain significance
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr1:155204996
GRCh38:
Chr1:155235205
GBA1, LOC106627981V499L, V450L, V412LGaucher disease type I, not providedConflicting interpretations of pathogenicity
(Jul 4, 2023)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr1:155205002
GRCh38:
Chr1:155235211
GBA1, LOC106627981V497M, V410M, V448MInborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
34.
GRCh37:
Chr1:155205002
GRCh38:
Chr1:155235211
LOC106627981, GBA1V410L, V448L, V497Lnot providedUncertain significance
(Oct 29, 2019)
criteria provided, single submitter
35.
GRCh37:
Chr1:155205008
GRCh38:
Chr1:155235217
GBA1, LOC106627981A495P, A408P, A446PInborn genetic diseases, not specified, not provided
Conflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr1:155205016
GRCh38:
Chr1:155235225
GBA1, LOC106627981D405V, D443V, D492Vnot providedUncertain significanceno assertion criteria provided
37.
GRCh37:
Chr1:155205017
GRCh38:
Chr1:155235226
GBA1, LOC106627981D405N, D443N, D492NGaucher disease type IUncertain significance
(Jul 22, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr1:155205017
GRCh38:
Chr1:155235226
GBA1, LOC106627981D405H, D443H, D492Hnot providedUncertain significanceno assertion criteria provided
39.
GRCh37:
Chr1:155205018
GRCh38:
Chr1:155235227
GBA1, LOC106627981not specified, not provided, Lewy body dementia,
Gaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Likely benign
(Feb 1, 2023)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:155205028
GRCh38:
Chr1:155235237
GBA1, LOC106627981L401P, L439P, L488Pnot providedUncertain significance
(Oct 1, 2023)
criteria provided, single submitter
41.
GRCh37:
Chr1:155205032
GRCh38:
Chr1:155235241
LOC106627981, GBA1A487T, A400T, A438TGaucher disease type ILikely pathogenic
(Aug 25, 2015)
no assertion criteria provided
42.
GRCh37:
Chr1:155205036
GRCh38:
Chr1:155235245
GBA1, LOC106627981Gaucher disease type II, Gaucher disease type IUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr1:155205037
GRCh38:
Chr1:155235246
LOC106627981, GBA1A398G, A436G, A485Gnot providedUncertain significance
(Mar 2, 2023)
criteria provided, single submitter
44.
GRCh37:
Chr1:155205038
GRCh38:
Chr1:155235247
GBA1, LOC106627981A485P, A436P, A398Pnot providedUncertain significance
(Oct 1, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr1:155205043
GRCh38:
Chr1:155235252
LOC106627981, GBA1L483R, L434R, L396RGaucher disease type III, GBA-related disorders, not provided,
Gaucher disease, Gaucher disease type I, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Pathogenic/Likely pathogenic
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr1:155205043
Chr1:155205008
Chr1:155204994
GRCh38:
Chr1:155235252
Chr1:155235217
Chr1:155235203
GBA1, LOC106627981, GBA1, LOC106627981, GBA1, LOC106627981L483P, L396P, L434P, A495P, A408P, A446Pnot provided, Parkinson disease, late-onsetPathogenic
(Sep 15, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr1:155205043
GRCh38:
Chr1:155235252
GBA1, LOC106627981L483P, L396P, L434PGBA1-related condition, Abnormality of movement, Resting tremor,
Parkinsonism, Thoracolumbar scoliosis, Hypomimic face,
Inborn genetic diseases, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onsetGaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
not provided, Gaucher disease, Parkinson disease, late-onset,
Gaucher disease type I, Gaucher disease perinatal lethal, Gaucher disease type II,
Gaucher disease type III, ...see more
Pathogenic; risk factor
(Aug 16, 2023)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:155205044
GRCh38:
Chr1:155235253
LOC106627981, GBA1not specifiedLikely benign
(Aug 28, 2019)
criteria provided, single submitter
49.
GRCh37:
Chr1:155205046-155205052
GRCh38:
Chr1:155235255-155235261
GBA1, LOC106627981K393fs, K431fs, K480fsGaucher diseasePathogenic
(Mar 31, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr1:155205047
GRCh38:
Chr1:155235256
GBA1, LOC106627981D395N, D433N, D482NParkinson disease, late-onset, Gaucher disease perinatal lethal, Lewy body dementia,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, not provided, not specified
Likely benign
(Apr 1, 2023)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr1:155205049-155205051
GRCh38:
Chr1:155235258-155235260
GBA1, LOC106627981K393del, K431del, K480delnot providedUncertain significance
(Sep 1, 2023)
criteria provided, single submitter
52.
GRCh37:
Chr1:155205051
GRCh38:
Chr1:155235260
GBA1, LOC106627981K480N, K431N, K393NParkinson disease, late-onsetUncertain significance
(Sep 8, 2015)
no assertion criteria provided
53.
GRCh37:
Chr1:155205060
GRCh38:
Chr1:155235269
LOC106627981, GBA1not providedUncertain significance
(Apr 21, 2015)
criteria provided, single submitter
54.
GRCh37:
Chr1:155205074
GRCh38:
Chr1:155235283
GBA1, LOC106627981V386L, V424L, V473Lnot providedUncertain significance
(Aug 1, 2023)
criteria provided, single submitter
55.
GRCh37:
Chr1:155205088
GRCh38:
Chr1:155235297
GBA1, LOC106627981E381A, E419A, E468Anot providedUncertain significance
(May 1, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr1:155205094
GRCh38:
Chr1:155235303
GBA1, LOC106627981I466S, I417S, I379SGaucher disease type ILikely pathogenic
(Mar 10, 2012)
no assertion criteria provided
57.
GRCh37:
Chr1:155205115
GRCh38:
Chr1:155235324
GBA1, LOC106627981not providedUncertain significance
(Sep 19, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr1:155205135
GRCh38:
Chr1:155235344
GBA1, LOC106627981Gaucher disease perinatal lethalUncertain significance
(Oct 17, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr1:155205470
GRCh38:
Chr1:155235679
GBA1, LOC106627981Gaucher disease type ILikely pathogenicno assertion criteria provided
60.
GRCh37:
Chr1:155205471
GRCh38:
Chr1:155235680
GBA1, LOC106627981not providedPathogenic
(Jul 24, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr1:155205472
GRCh38:
Chr1:155235681
GBA1, LOC106627981S376T, S414T, S463TGaucher disease type I, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Gaucher disease perinatal lethal, Parkinson disease, late-onset
Uncertain significance
(Aug 4, 2021)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:155205499
GRCh38:
Chr1:155235708
GBA1, LOC106627981P367L, P405L, P454LLewy body dementiaPathogenic
(Oct 28, 2022)
no assertion criteria provided
63.
GRCh37:
Chr1:155205499
GRCh38:
Chr1:155235708
GBA1, LOC106627981P454R, P405R, P367RGaucher disease type IIPathogenic
(Nov 16, 2007)
no assertion criteria provided
64.
GRCh37:
Chr1:155205503
GRCh38:
Chr1:155235712
GBA1, LOC106627981Q453*, Q366*, Q404*Gaucher diseasePathogenic
(Dec 24, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr1:155205505
GRCh38:
Chr1:155235714
GBA1, LOC106627981K365R, K403R, K452Rnot providedUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr1:155205512
GRCh38:
Chr1:155235721
LOC106627981, GBA1F450I, F363I, F401Inot providedPathogenic
(Feb 7, 2017)
criteria provided, single submitter
67.
GRCh37:
Chr1:155205513
GRCh38:
Chr1:155235722
GBA1, LOC106627981not providedLikely benign
(Apr 19, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr1:155205514
GRCh38:
Chr1:155235723
GBA1, LOC106627981T362M, T400M, T449MGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II, Parkinson disease, late-onset,
Lewy body dementia, Gaucher disease perinatal lethal, Gaucher disease type I,
Gaucher disease type III, Gaucher disease type II, not provided,
Gaucher disease type I
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr1:155205517
GRCh38:
Chr1:155235726
GBA1, LOC106627981D448V, D361V, D399VGaucher disease type ILikely pathogenic
(Dec 21, 2015)
criteria provided, single submitter
70.
GRCh37:
Chr1:155205518
Chr1:155207249
GRCh38:
Chr1:155235727
Chr1:155237458
GBA1, LOC106627981, GBA1, LOC106627981D448H, D361H, D399H, H294Q, H245Q, H207QGaucher disease type II, Gaucher disease type IIIPathogenic
(Apr 1, 2005)
no assertion criteria provided
71.
GRCh37:
Chr1:155205518
GRCh38:
Chr1:155235727
GBA1, LOC106627981D448H, D361H, D399HInborn genetic diseases, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onset, Gaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type IIIGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
not provided, Gaucher disease, Parkinson disease, late-onset,
Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease perinatal lethal,
Gaucher disease type II, ...see more
Pathogenic/Likely pathogenic
(Aug 19, 2023)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:155205540-155205595
GRCh38:
Chr1:155235749-155235804
GBA1, LOC106627981L335fs, L373fs, L422fsGaucher disease perinatal lethalPathogeniccriteria provided, single submitter
73.
GRCh37:
Chr1:155205541-155205595
GRCh38:
Chr1:155235750-155235804
GBA1, LOC106627981L335fs, L373fs, L422fsGaucher disease perinatal lethal, Parkinson disease, late-onset, Lewy body dementia,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, not provided, Gaucher disease
Pathogenic
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr1:155205541
GRCh38:
Chr1:155235750
GBA1, LOC106627981P440L, P391L, P353LGaucher disease type IPathogenic
(Jun 4, 1999)
no assertion criteria provided
75.
GRCh37:
Chr1:155205544
GRCh38:
Chr1:155235753
GBA1, LOC106627981S352N, S390N, S439NGaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III
Uncertain significance
(Oct 10, 2019)
criteria provided, single submitter
76.
GRCh37:
Chr1:155205546
GRCh38:
Chr1:155235755
GBA1, LOC106627981not providedLikely benign
(Mar 8, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr1:155205548
GRCh38:
Chr1:155235757
GBA1, LOC106627981D351H, D389H, D438HParkinson disease, late-onsetLikely pathogenic
(Jul 26, 2021)
no assertion criteria provided
78.
GRCh37:
Chr1:155205548
GRCh38:
Chr1:155235757
GBA1, LOC106627981D438N, D389N, D351Nnot provided, Gaucher diseasePathogenic
(Jul 15, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr1:155205549
GRCh38:
Chr1:155235758
GBA1, LOC106627981not providedLikely benign
(Jun 8, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr1:155205551
GRCh38:
Chr1:155235760
GBA1, LOC106627981V350L, V388L, V437Lnot providedUncertain significance
(May 12, 2023)
criteria provided, single submitter
81.
GRCh37:
Chr1:155205551
GRCh38:
Chr1:155235760
GBA1, LOC106627981V437F, V388F, V350FGaucher disease perinatal lethalPathogenic
(May 1, 1999)
no assertion criteria provided
82.
GRCh37:
Chr1:155205553
GRCh38:
Chr1:155235762
GBA1, LOC106627981F436S, F349S, F387Snot providedUncertain significance
(Nov 30, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr1:155205555
GRCh38:
Chr1:155235764
LOC106627981, GBA1not providedLikely benign
(Sep 23, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr1:155205558
GRCh38:
Chr1:155235767
GBA1, LOC106627981not providedLikely benign
(Jun 14, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr1:155205558
GRCh38:
Chr1:155235767
GBA1, LOC106627981not providedLikely benign
(Jun 13, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr1:155205560
GRCh38:
Chr1:155235769
GBA1, LOC106627981R347C, R385C, R434CGaucher diseaseLikely pathogenic
(Jan 31, 2023)
criteria provided, single submitter
87.
GRCh37:
Chr1:155205563
GRCh38:
Chr1:155235772
GBA1, LOC106627981V433L, V384L, V346LGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Lewy body dementia, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromenot provided,
Gaucher disease, Parkinson disease, late-onset, Gaucher disease type I,
...see more
Pathogenic/Likely pathogenic
(Aug 20, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr1:155205564
GRCh38:
Chr1:155235773
GBA1, LOC106627981W432*, W345*, W383*not provided, Gaucher diseaseConflicting interpretations of pathogenicity
(Jan 22, 2020)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr1:155205566
GRCh38:
Chr1:155235775
GBA1, LOC106627981W432R, W383R, W345RParkinson disease, late-onsetPathogenicno assertion criteria provided
90.
GRCh37:
Chr1:155205567
GRCh38:
Chr1:155235776
GBA1, LOC106627981not providedLikely benign
(Oct 19, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr1:155205570
GRCh38:
Chr1:155235779
GBA1, LOC106627981not providedLikely benign
(Apr 5, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr1:155205571
GRCh38:
Chr1:155235780
GBA1, LOC106627981P430L, P343L, P381Lnot provided, Gaucher disease perinatal lethalPathogenic
(Jul 13, 2021)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr1:155205576
GRCh38:
Chr1:155235785
GBA1, LOC106627981not providedLikely benign
(Jun 18, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr1:155205579
GRCh38:
Chr1:155235788
GBA1, LOC106627981not providedLikely benign
(Oct 3, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr1:155205581
GRCh38:
Chr1:155235790
GBA1, LOC106627981E427*, E340*, E378*Gaucher diseaseLikely pathogenic
(Nov 21, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr1:155205581
GRCh38:
Chr1:155235790
LOC106627981, GBA1E427K, E378K, E340Knot provided, Inborn genetic diseases, Parkinsonism,
Resting tremor, Cogwheel rigidity
Uncertain significance
(Jun 6, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr1:155205582
GRCh38:
Chr1:155235791
GBA1, LOC106627981not providedLikely benign
(Sep 28, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr1:155205583
GRCh38:
Chr1:155235792
GBA1, LOC106627981P426L, P339L, P377LParkinson disease, late-onsetUncertain significance
(Sep 8, 2015)
no assertion criteria provided
99.
GRCh37:
Chr1:155205585
GRCh38:
Chr1:155235794
GBA1, LOC106627981N338K, N376K, N425Knot specifiedUncertain significance
(Dec 3, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr1:155205588
GRCh38:
Chr1:155235797
GBA1, LOC106627981not providedLikely benign
(Jun 15, 2022)
criteria provided, single submitter
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