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Items: 1 to 100 of 415

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:67205220-81044553
GRCh38:
Chr17:69209079-83086677
LOC130061805, LOC130061806, LOC130061807, LOC130061808, LOC130061809, LOC130061810, LOC130061811, LOC130061812, LOC130061813, LOC130061814, LOC130061815, LOC130061816, LOC130061817, LOC130061818, LOC130061819, LOC130061820, LOC130061821, LOC130061822, LOC130061823, LOC130061824, LOC130061825, LOC130061826, LOC130061827, LOC130061828, LOC130061829, LOC130061830, LOC130061831, LOC130061832, LOC130061833, LOC130061834, LOC130061835, LOC130061836, LOC130061837, LOC130061838, LOC130061839, LOC130061840, LOC130061841, LOC130061842, LOC130061843, LOC130061844, LOC130061845, LOC130061846, LOC130061847, LOC130061848, LOC130061849, LOC130061850, LOC130061851, LOC130061852, LOC130061853, LOC130061854, LOC130061855, LOC130061856, LOC130061857, LOC130061858, LOC130061859, LOC130061860, LOC130061861, LOC130061862, LOC130061863, LOC130061864, LOC130061865, LOC130061866, LOC130061867, LOC130061868, LOC130061869, LOC130061870, LOC130061871, LOC130061872, LOC130061873, LOC130061874, LOC130061875, LOC130061876, LOC130061877, LOC130061878, LOC130061879, LOC130061880, LOC130061881, LOC130061882, LOC130061883, LOC130061884, LOC130061885, LOC130061886, LOC130061887, LOC130061888, LOC130061889, LOC130061890, LOC130061891, LOC130061892, LOC130061893, LOC130061894, LOC130061895, LOC130061896, LOC130061897, LOC130061898, LOC130061899, LOC130061900, LOC130061901, LOC130061902, LOC130061903, LOC130061904, LOC130061905, LOC130061906, LOC130061907, LOC130061908, LOC130061909, LOC130061910, LOC130061911, LOC130061912, LOC130061913, LOC130061914, LOC130061915, LOC130061916, LOC130061917, LOC130061918, LOC130061919, LOC130061920, LOC130061921, LOC130061922, LOC130061923, LOC130061924, LOC130061925, LOC130061926, LOC130061927, LOC130061928, LOC130061929, LOC130061930, LOC130061931, LOC130061932, LOC130061933, LOC130061934, LOC130061935, LOC130061936, LOC130061937, LOC130061938, LOC130061939, LOC130061940, LOC130061941, LOC130061942, LOC130061943, LOC130061944, LOC130061945, LOC130061946, LOC130061947, LOC130061948, LOC130061949, LOC130061950, LOC130061951, LOC130061952, LOC130061953, LOC130061954, LOC130061955, LOC130061956, LOC130061957, LOC130061958, LOC130061959, LOC130061960, LOC130061961, LOC130061962, LOC130061963, LOC130061964, LOC130061965, LOC130061966, LOC130061967, LOC130061968, LOC130061969, LOC130061970, LOC130061971, LOC130061972, LOC130061973, LOC130061974, LOC130061975, LOC130061976, LOC130061977, LOC130061978, LOC130061979, LOC130061980, LOC130061981, LOC130061982, LOC130061983, LOC130061984, LOC130061985, LOC130061986, LOC130061987, LOC130061988, LOC130061989, LOC130061990, LOC130061991, LOC130061992, LOC130061993, LOC130061994, LOC130061995, LOC130061996, LOC130061997, LOC130061998, LOC130061999, LOC130062000, LOC130062001, LOC130062002, LOC130062003, LOC130062004, LOC130062005, LOC130062006, LOC130062007, LOC130062008, LOC130062009, LOC130062010, LOC130062011, LOC130062012, LOC130062013, LOC130062014, LOC130062015, LOC130062016, LOC130062017, LOC130062018, LOC130062019, LOC130062020, LOC130062021, LOC130062022, LOC130062023, LOC130062024, LOC130062025, LOC130062026, LOC130062027, LOC130062028, LOC130062029, LOC130062030, LOC130062031, LOC130062032, LOC130062033, LOC130062034, LOC130062035, LOC130062036, LOC130062037, LOC130062038, LOC130062039, LOC130062040, LOC130062041, LOC130062042, LOC130062043, LOC130062044, LOC130062045, LOC130062046, LOC130062047, LOC130062048, LOC130062049, LOC130062050, LOC130062051, LOC130062052, LOC130062053, LOC130062054, LOC130062055, LOC130062056, LOC130062057, LOC130062058, LOC130062059, LOC130062060, LOC130062061, LOC130062062, LOC130062063, LOC130062064, LOC130062065, LOC130062066, LOC130062067, LOC131477896, LOC131520253, LOC132090477, LOC132090478, LOC132090479, LOC132090480, LOC132090481, LOC132090482, LOC132090895, LOC132090896, LOC400622, LOC400627, LRRC45, MAFG, MAFG-AS1, MAP2K6, MCRIP1, METRNL, METTL23, MFSD11, MGAT5B, MGC16275, MIF4GD, MIF4GD-DT, MILIP, MIR1250, MIR1268B, MIR3065, MIR3186, MIR338, MIR3615, MIR3678, MIR4316, MIR4525, MIR4730, MIR4738, MIR4739, MIR4740, MIR636, MIR6516, MIR657, MIR6785, MIR6786, MIR6787, MIR6868, MRPL12, MRPL38, MRPL58, MRPS7, MXRA7, MYADML2, MYO15B, NARF, NARF-AS2, NAT9, NDUFAF8, NHERF1, NOTUM, NPB, NPLOC4, NPTX1, NT5C, NUP85, OGFOD3, OTOP2, OTOP3, OXLD1, P4HB, PCYT2, PDE6G, PGS1, PPP1R27, PRCD, PRO1804, PRPSAP1, PVALEF, PYCR1, QRICH2, RAB37, RAB40B, RAC3, RBFOX3, RECQL5, RENO1, REVSEX, RFNG, RHBDF2, RNF157, RNF157-AS1, RNF213, RNF213-AS1, ROCR, RPL38, RPTOR, SAP30BP, SAP30BP-AS1, SCARNA16, SCAT1, SDK2, SEC14L1, SECTM1, SEPTIN9, SEPTIN9-DT, SGSH, SIRT7, SLC16A3, SLC16A5, SLC25A10, SLC25A19, SLC26A11, SLC38A10, SLC39A11, SLC9A3R1-AS1, SMIM5, SMIM6, SNHG16, SNHG20, SNORD134, SNORD1A, SNORD1B, SNORD1C, SOCS3, SOCS3-DT, SOX9, SOX9-AS1, SOX9CRE1, SPHK1, SRP68, SRSF2, SSTR2, ST6GALNAC1, ST6GALNAC2, SUMO2, SYNGR2, TBC1D16, TBCD, TEN1, TEN1-CDK3, TEPSIN, TEX19, TIMP2, TK1, TMC6, TMC8, TMEM104, TMEM105, TMEM235, TMEM94, TNRC6C, TRIM47, TRIM65, TRR-CCT1-1, TRR-CCT2-1, TRR-TCG3-1, TRX-CAT1-8, TSEN54, TSPAN10, TTYH2, UBALD2, UBE2O, UNC13D, UNK, USH1G, USP36, UTS2R, VCF1, WBP2, WDR45B, ZACN, ZNF750, GCGR, GGA3, GPR142, GPRC5C, GPS1, GRB2, GRIN2C, H3-3B, HEXD, HEXD-IT1, HGS, HID1, HID1-AS1, ITGB4, JMJD6, JPT1, KCNJ16, KCNJ2, KCNJ2-AS1, KCTD2, KIF19, LACAT1, LGALS3BP, LINC00469, LINC00482, LINC00511, LINC00673, LINC00868, LINC01028, LINC01152, LINC01483, LINC01497, LINC01970, LINC01971, LINC01973, LINC01977, LINC01978, LINC01979, LINC01987, LINC01993, LINC02003, LINC02074, LINC02078, LINC02080, LINC02092, LINC02097, LINC03048, LLGL2, LOC100134391, LOC100507351, LOC101928251, LOC101928343, LOC101928855, LOC101929552, LOC102723517, LOC105274304, LOC105371880, LOC105371899, LOC105371910, LOC105371912, LOC105371925, LOC108004545, LOC108004546, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021839, LOC108021840, LOC108021842, LOC108021843, LOC108021844, LOC108021845, LOC108021846, LOC108254686, LOC108254691, LOC108281162, LOC108348028, LOC110121373, LOC110599586, LOC111413039, LOC111429614, LOC112268198, LOC112533666, LOC112533667, LOC112533668, LOC112533669, LOC112533670, LOC112533671, LOC112533672, LOC112533673, LOC112533674, LOC112533675, LOC112533676, LOC112533677, LOC112533678, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276479, LOC116276480, LOC116276481, LOC116276482, LOC116276483, LOC116276484, LOC116276485, LOC121603772, LOC121603773, LOC121627807, LOC121627808, LOC121627809, LOC121627810, LOC121627811, LOC121627812, LOC121627813, LOC121627814, LOC121627815, LOC121627816, LOC121627817, LOC121627818, LOC121627819, LOC121627820, LOC121852949, LOC121852950, LOC121852951, LOC121852952, LOC121852953, LOC121852954, LOC121852955, LOC121852956, LOC121852957, LOC122455342, LOC125316786, LOC125316787, LOC125316788, LOC125316789, LOC125316790, LOC125316791, LOC125316792, LOC125316793, LOC125316794, LOC125316795, LOC125316796, LOC125316797, LOC125316798, LOC125316799, LOC125316800, LOC125316801, LOC125316802, LOC125316804, LOC125316805, LOC125316806, LOC125316807, LOC125316808, LOC125316809, LOC125316810, LOC125316811, LOC125316812, LOC125316813, LOC125316814, LOC125316815, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862624, LOC126862625, LOC126862626, LOC126862627, LOC126862628, LOC126862629, LOC126862630, LOC126862631, LOC126862632, LOC126862633, LOC126862634, LOC126862635, LOC126862636, LOC126862637, LOC126862638, LOC126862639, LOC126862640, LOC126862641, LOC126862642, LOC126862643, LOC126862644, LOC126862645, LOC126862646, LOC126862647, LOC126862648, LOC126862649, LOC126862650, LOC126862651, LOC126862652, LOC126862653, LOC126862654, LOC126862655, LOC126862656, LOC126862657, LOC126862658, LOC126862659, LOC126862660, LOC126862661, LOC126862662, LOC126862663, LOC126862664, LOC126862665, LOC126862666, LOC126862667, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC129390927, LOC129390928, LOC129390929, LOC129390930, LOC129390931, LOC129390932, LOC129390933, LOC129390934, LOC129390935, LOC129390936, LOC129390937, LOC129390938, LOC129390939, LOC129390940, LOC129390941, LOC129390942, LOC129390943, LOC129390944, LOC129390945, LOC129390946, LOC129390947, LOC129390948, LOC129390949, LOC129390950, LOC130061530, LOC130061531, LOC130061532, LOC130061533, LOC130061534, LOC130061535, LOC130061536, LOC130061537, LOC130061538, LOC130061539, LOC130061540, LOC130061541, LOC130061542, LOC130061543, LOC130061544, LOC130061545, LOC130061546, LOC130061547, LOC130061548, LOC130061549, LOC130061550, LOC130061551, LOC130061552, LOC130061553, LOC130061554, LOC130061555, LOC130061556, LOC130061557, LOC130061558, LOC130061559, LOC130061560, LOC130061561, LOC130061562, LOC130061563, LOC130061564, LOC130061565, LOC130061566, LOC130061567, LOC130061568, LOC130061569, LOC130061570, LOC130061571, LOC130061572, LOC130061573, LOC130061574, LOC130061575, LOC130061576, LOC130061577, LOC130061578, LOC130061579, LOC130061580, LOC130061581, LOC130061582, LOC130061583, LOC130061584, LOC130061585, LOC130061586, LOC130061587, LOC130061588, LOC130061589, LOC130061590, LOC130061591, LOC130061592, LOC130061593, LOC130061594, LOC130061595, LOC130061596, LOC130061597, LOC130061598, LOC130061599, LOC130061600, LOC130061601, LOC130061602, LOC130061603, LOC130061604, LOC130061605, LOC130061606, LOC130061607, LOC130061608, LOC130061609, LOC130061610, LOC130061611, LOC130061612, LOC130061613, LOC130061614, LOC130061615, LOC130061616, LOC130061617, LOC130061618, LOC130061619, LOC130061620, LOC130061621, LOC130061622, LOC130061623, LOC130061624, LOC130061625, LOC130061626, LOC130061627, LOC130061628, LOC130061629, LOC130061630, LOC130061631, LOC130061632, LOC130061633, LOC130061634, LOC130061635, LOC130061636, LOC130061637, LOC130061638, LOC130061639, LOC130061640, LOC130061641, LOC130061642, LOC130061643, LOC130061644, LOC130061645, LOC130061646, LOC130061647, LOC130061648, LOC130061649, LOC130061650, LOC130061651, LOC130061652, LOC130061653, LOC130061654, LOC130061655, LOC130061656, LOC130061657, LOC130061658, LOC130061659, LOC130061660, LOC130061661, LOC130061662, LOC130061663, LOC130061664, LOC130061665, LOC130061666, LOC130061667, LOC130061668, LOC130061669, LOC130061670, LOC130061671, LOC130061672, LOC130061673, LOC130061674, LOC130061675, LOC130061676, LOC130061677, LOC130061678, LOC130061679, LOC130061680, LOC130061681, LOC130061682, LOC130061683, LOC130061684, LOC130061685, LOC130061686, LOC130061687, LOC130061688, LOC130061689, LOC130061690, LOC130061691, LOC130061692, LOC130061693, LOC130061694, LOC130061695, LOC130061696, LOC130061697, LOC130061698, LOC130061699, LOC130061700, LOC130061701, LOC130061702, LOC130061703, LOC130061704, LOC130061705, LOC130061706, LOC130061707, LOC130061708, LOC130061709, LOC130061710, LOC130061711, LOC130061712, LOC130061713, LOC130061714, LOC130061715, LOC130061716, LOC130061717, LOC130061718, LOC130061719, LOC130061720, LOC130061721, LOC130061722, LOC130061723, LOC130061724, LOC130061725, LOC130061726, LOC130061727, LOC130061728, LOC130061729, LOC130061730, LOC130061731, LOC130061732, LOC130061733, LOC130061734, LOC130061735, LOC130061736, LOC130061737, LOC130061738, LOC130061739, LOC130061740, LOC130061741, LOC130061742, LOC130061743, LOC130061744, LOC130061745, LOC130061746, LOC130061747, LOC130061748, LOC130061749, LOC130061750, LOC130061751, LOC130061752, LOC130061753, LOC130061754, LOC130061755, LOC130061756, LOC130061757, LOC130061758, LOC130061759, LOC130061760, LOC130061761, LOC130061762, LOC130061763, LOC130061764, LOC130061765, LOC130061766, LOC130061767, LOC130061768, LOC130061769, LOC130061770, LOC130061771, LOC130061772, LOC130061773, LOC130061774, LOC130061775, LOC130061776, LOC130061777, LOC130061778, LOC130061779, LOC130061780, LOC130061781, LOC130061782, LOC130061783, LOC130061784, LOC130061785, LOC130061786, LOC130061787, LOC130061788, LOC130061789, LOC130061790, LOC130061791, LOC130061792, LOC130061793, LOC130061794, LOC130061795, LOC130061796, LOC130061797, LOC130061798, LOC130061799, LOC130061800, LOC130061801, LOC130061802, LOC130061803, LOC130061804, AANAT, AATK, ABCA10, ABCA5, ACOX1, ACTG1, AFMID, ALYREF, ANAPC11, ARHGDIA, ARL16, ARMC7, ASPSCR1, ATP5PD, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, BIRC5, BTBD17, C17orf80, C17orf99, C1QTNF1, C1QTNF1-AS1, CANT1, CARD14, CASC17, CASKIN2, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD300A, CD300C, CD300E, CD300H, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD7, CDC42EP4, CDK3, CDR2L, CENPX, CEP131, CEP295NL, CHMP6, COG1, CPSF4L, CSNK1D, CYBC1, CYGB, CYTH1, DCXR, DCXR-DT, DNAH17, DNAH17-AS1, DNAI2, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, EVPL, EXOC7, FAAP100, FADS6, FASN, FBF1, FDXR, FN3K, FN3KRP, FOXJ1, FOXK2, FSCN2, GAA, GALK1, GALR2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr17:67912576-81048189
GRCh38:
Chr17:69916435-83102552
AANAT, AATK, ACOX1, ACTG1, AFMID, ALYREF, ANAPC11, ARHGDIA, ARL16, ARMC7, ASPSCR1, ATP5PD, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, BIRC5, BTBD17, C17orf80, C17orf99, C1QTNF1, C1QTNF1-AS1, CANT1, CARD14, CASC17, CASKIN2, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD300A, CD300C, CD300E, CD300H, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD7, CDC42EP4, CDK3, CDR2L, CENPX, CEP131, CEP295NL, CHMP6, COG1, CPSF4L, CSNK1D, CYBC1, CYGB, CYTH1, DCXR, DCXR-DT, DNAH17, DNAH17-AS1, DNAI2, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, EVPL, EXOC7, FAAP100, FADS6, FASN, FBF1, FDXR, FN3K, FN3KRP, FOXJ1, FOXK2, FSCN2, GAA, GALK1, GALR2, GCGR, GGA3, GPR142, GPRC5C, GPS1, GRB2, GRIN2C, H3-3B, HEXD, HEXD-IT1, HGS, HID1, HID1-AS1, ITGB4, JMJD6, JPT1, KCNJ16, KCNJ2, KCNJ2-AS1, KCTD2, KIF19, LACAT1, LGALS3BP, LINC00469, LINC00482, LINC00511, LINC00673, LINC00868, LINC01028, LINC01152, LINC01497, LINC01970, LINC01971, LINC01973, LINC01977, LINC01978, LINC01979, LINC01987, LINC01993, LINC02003, LINC02074, LINC02078, LINC02080, LINC02092, LINC02097, LINC03048, LLGL2, LOC100134391, LOC100507351, LOC101928251, LOC101928343, LOC101928855, LOC101929552, LOC102723517, LOC105274304, LOC105371899, LOC105371910, LOC105371912, LOC105371925, LOC108004545, LOC108004546, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021839, LOC108021840, LOC108021842, LOC108021843, LOC108021844, LOC108021845, LOC108021846, LOC108254686, LOC108254691, LOC108281162, LOC108348028, LOC110121373, LOC110599586, LOC111413039, LOC111429614, LOC112268198, LOC112533666, LOC112533667, LOC112533668, LOC112533669, LOC112533670, LOC112533671, LOC112533672, LOC112533673, LOC112533674, LOC112533675, LOC112533676, LOC112533677, LOC112533678, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276479, LOC116276480, LOC116276481, LOC116276482, LOC116276483, LOC116276484, LOC116276485, LOC121603772, LOC121603773, LOC121627807, LOC121627808, LOC121627809, LOC121627810, LOC121627811, LOC121627812, LOC121627813, LOC121627814, LOC121627815, LOC121627816, LOC121627817, LOC121627818, LOC121627819, LOC121627820, LOC121852949, LOC121852950, LOC121852951, LOC121852952, LOC121852953, LOC121852954, LOC121852955, LOC121852956, LOC121852957, LOC122455342, LOC125316787, LOC125316788, LOC125316789, LOC125316790, LOC125316791, LOC125316792, LOC125316793, LOC125316794, LOC125316795, LOC125316796, LOC125316797, LOC125316798, LOC125316799, LOC125316800, LOC125316801, LOC125316802, LOC125316804, LOC125316805, LOC125316806, LOC125316807, LOC125316808, LOC125316809, LOC125316810, LOC125316811, LOC125316812, LOC125316813, LOC125316814, LOC125316815, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862626, LOC126862627, LOC126862628, LOC126862629, LOC126862630, LOC126862631, LOC126862632, LOC126862633, LOC126862634, LOC126862635, LOC126862636, LOC126862637, LOC126862638, LOC126862639, LOC126862640, LOC126862641, LOC126862642, LOC126862643, LOC126862644, LOC126862645, LOC126862646, LOC126862647, LOC126862648, LOC126862649, LOC126862650, LOC126862651, LOC126862652, LOC126862653, LOC126862654, LOC126862655, LOC126862656, LOC126862657, LOC126862658, LOC126862659, LOC126862660, LOC126862661, LOC126862662, LOC126862663, LOC126862664, LOC126862665, LOC126862666, LOC126862667, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC129390930, LOC129390931, LOC129390932, LOC129390933, LOC129390934, LOC129390935, LOC129390936, LOC129390937, LOC129390938, LOC129390939, LOC129390940, LOC129390941, LOC129390942, LOC129390943, LOC129390944, LOC129390945, LOC129390946, LOC129390947, LOC129390948, LOC129390949, LOC129390950, LOC130061538, LOC130061539, LOC130061540, LOC130061541, LOC130061542, LOC130061543, LOC130061544, LOC130061545, LOC130061546, LOC130061547, LOC130061548, LOC130061549, LOC130061550, LOC130061551, LOC130061552, LOC130061553, LOC130061554, LOC130061555, LOC130061556, LOC130061557, LOC130061558, LOC130061559, LOC130061560, LOC130061561, LOC130061562, LOC130061563, LOC130061564, LOC130061565, LOC130061566, LOC130061567, LOC130061568, LOC130061569, LOC130061570, LOC130061571, LOC130061572, LOC130061573, LOC130061574, LOC130061575, LOC130061576, LOC130061577, LOC130061578, LOC130061579, LOC130061580, LOC130061581, LOC130061582, LOC130061583, LOC130061584, LOC130061585, LOC130061586, LOC130061587, LOC130061588, LOC130061589, LOC130061590, LOC130061591, LOC130061592, LOC130061593, LOC130061594, LOC130061595, LOC130061596, LOC130061597, LOC130061598, LOC130061599, LOC130061600, LOC130061601, LOC130061602, LOC130061603, LOC130061604, LOC130061605, LOC130061606, LOC130061607, LOC130061608, LOC130061609, LOC130061610, LOC130061611, LOC130061612, LOC130061613, LOC130061614, LOC130061615, LOC130061616, LOC130061617, LOC130061618, LOC130061619, LOC130061620, LOC130061621, LOC130061622, LOC130061623, LOC130061624, LOC130061625, LOC130061626, LOC130061627, LOC130061628, LOC130061629, LOC130061630, LOC130061631, LOC130061632, LOC130061633, LOC130061634, LOC130061635, LOC130061636, LOC130061637, LOC130061638, LOC130061639, LOC130061640, LOC130061641, LOC130061642, LOC130061643, LOC130061644, LOC130061645, LOC130061646, LOC130061647, LOC130061648, LOC130061649, LOC130061650, LOC130061651, LOC130061652, LOC130061653, LOC130061654, LOC130061655, LOC130061656, LOC130061657, LOC130061658, LOC130061659, LOC130061660, LOC130061661, LOC130061662, LOC130061663, LOC130061664, LOC130061665, LOC130061666, LOC130061667, LOC130061668, LOC130061669, LOC130061670, LOC130061671, LOC130061672, LOC130061673, LOC130061674, LOC130061675, LOC130061676, LOC130061677, LOC130061678, LOC130061679, LOC130061680, LOC130061681, LOC130061682, LOC130061683, LOC130061684, LOC130061685, LOC130061686, LOC130061687, LOC130061688, LOC130061689, LOC130061690, LOC130061691, LOC130061692, LOC130061693, LOC130061694, LOC130061695, LOC130061696, LOC130061697, LOC130061698, LOC130061699, LOC130061700, LOC130061701, LOC130061702, LOC130061703, LOC130061704, LOC130061705, LOC130061706, LOC130061707, LOC130061708, LOC130061709, LOC130061710, LOC130061711, LOC130061712, LOC130061713, LOC130061714, LOC130061715, LOC130061716, LOC130061717, LOC130061718, LOC130061719, LOC130061720, LOC130061721, LOC130061722, LOC130061723, LOC130061724, LOC130061725, LOC130061726, LOC130061727, LOC130061728, LOC130061729, LOC130061730, LOC130061731, LOC130061732, LOC130061733, LOC130061734, LOC130061735, LOC130061736, LOC130061737, LOC130061738, LOC130061739, LOC130061740, LOC130061741, LOC130061742, LOC130061743, LOC130061744, LOC130061745, LOC130061746, LOC130061747, LOC130061748, LOC130061749, LOC130061750, LOC130061751, LOC130061752, LOC130061753, LOC130061754, LOC130061755, LOC130061756, LOC130061757, LOC130061758, LOC130061759, LOC130061760, LOC130061761, LOC130061762, LOC130061763, LOC130061764, LOC130061765, LOC130061766, LOC130061767, LOC130061768, LOC130061769, LOC130061770, LOC130061771, LOC130061772, LOC130061773, LOC130061774, LOC130061775, LOC130061776, LOC130061777, LOC130061778, LOC130061779, LOC130061780, LOC130061781, LOC130061782, LOC130061783, LOC130061784, LOC130061785, LOC130061786, LOC130061787, LOC130061788, LOC130061789, LOC130061790, LOC130061791, LOC130061792, LOC130061793, LOC130061794, LOC130061795, LOC130061796, LOC130061797, LOC130061798, LOC130061799, LOC130061800, LOC130061801, LOC130061802, LOC130061803, LOC130061804, LOC130061805, LOC130061806, LOC130061807, LOC130061808, LOC130061809, LOC130061810, LOC130061811, LOC130061812, LOC130061813, LOC130061814, LOC130061815, LOC130061816, LOC130061817, LOC130061818, LOC130061819, LOC130061820, LOC130061821, LOC130061822, LOC130061823, LOC130061824, LOC130061825, LOC130061826, LOC130061827, LOC130061828, LOC130061829, LOC130061830, LOC130061831, LOC130061832, LOC130061833, LOC130061834, LOC130061835, LOC130061836, LOC130061837, LOC130061838, LOC130061839, LOC130061840, LOC130061841, LOC130061842, LOC130061843, LOC130061844, LOC130061845, LOC130061846, LOC130061847, LOC130061848, LOC130061849, LOC130061850, LOC130061851, LOC130061852, LOC130061853, LOC130061854, LOC130061855, LOC130061856, LOC130061857, LOC130061858, LOC130061859, LOC130061860, LOC130061861, LOC130061862, LOC130061863, LOC130061864, LOC130061865, LOC130061866, LOC130061867, LOC130061868, LOC130061869, LOC130061870, LOC130061871, LOC130061872, LOC130061873, LOC130061874, LOC130061875, LOC130061876, LOC130061877, LOC130061878, LOC130061879, LOC130061880, LOC130061881, LOC130061882, LOC130061883, LOC130061884, LOC130061885, LOC130061886, LOC130061887, LOC130061888, LOC130061889, LOC130061890, LOC130061891, LOC130061892, LOC130061893, LOC130061894, LOC130061895, LOC130061896, LOC130061897, LOC130061898, LOC130061899, LOC130061900, LOC130061901, LOC130061902, LOC130061903, LOC130061904, LOC130061905, LOC130061906, LOC130061907, LOC130061908, LOC130061909, LOC130061910, LOC130061911, LOC130061912, LOC130061913, LOC130061914, LOC130061915, LOC130061916, LOC130061917, LOC130061918, LOC130061919, LOC130061920, LOC130061921, LOC130061922, LOC130061923, LOC130061924, LOC130061925, LOC130061926, LOC130061927, LOC130061928, LOC130061929, LOC130061930, LOC130061931, LOC130061932, LOC130061933, LOC130061934, LOC130061935, LOC130061936, LOC130061937, LOC130061938, LOC130061939, LOC130061940, LOC130061941, LOC130061942, LOC130061943, LOC130061944, LOC130061945, LOC130061946, LOC130061947, LOC130061948, LOC130061949, LOC130061950, LOC130061951, LOC130061952, LOC130061953, LOC130061954, LOC130061955, LOC130061956, LOC130061957, LOC130061958, LOC130061959, LOC130061960, LOC130061961, LOC130061962, LOC130061963, LOC130061964, LOC130061965, LOC130061966, LOC130061967, LOC130061968, LOC130061969, LOC130061970, LOC130061971, LOC130061972, LOC130061973, LOC130061974, LOC130061975, LOC130061976, LOC130061977, LOC130061978, LOC130061979, LOC130061980, LOC130061981, LOC130061982, LOC130061983, LOC130061984, LOC130061985, LOC130061986, LOC130061987, LOC130061988, LOC130061989, LOC130061990, LOC130061991, LOC130061992, LOC130061993, LOC130061994, LOC130061995, LOC130061996, LOC130061997, LOC130061998, LOC130061999, LOC130062000, LOC130062001, LOC130062002, LOC130062003, LOC130062004, LOC130062005, LOC130062006, LOC130062007, LOC130062008, LOC130062009, LOC130062010, LOC130062011, LOC130062012, LOC130062013, LOC130062014, LOC130062015, LOC130062016, LOC130062017, LOC130062018, LOC130062019, LOC130062020, LOC130062021, LOC130062022, LOC130062023, LOC130062024, LOC130062025, LOC130062026, LOC130062027, LOC130062028, LOC130062029, LOC130062030, LOC130062031, LOC130062032, LOC130062033, LOC130062034, LOC130062035, LOC130062036, LOC130062037, LOC130062038, LOC130062039, LOC130062040, LOC130062041, LOC130062042, LOC130062043, LOC130062044, LOC130062045, LOC130062046, LOC130062047, LOC130062048, LOC130062049, LOC130062050, LOC130062051, LOC130062052, LOC130062053, LOC130062054, LOC130062055, LOC130062056, LOC130062057, LOC130062058, LOC130062059, LOC130062060, LOC130062061, LOC130062062, LOC130062063, LOC130062064, LOC130062065, LOC130062066, LOC130062067, LOC131477896, LOC131520253, LOC132090477, LOC132090478, LOC132090479, LOC132090480, LOC132090481, LOC132090482, LOC132090895, LOC132090896, LOC400622, LOC400627, LRRC45, MAFG, MAFG-AS1, MCRIP1, METRNL, METTL23, MFSD11, MGAT5B, MGC16275, MIF4GD, MIF4GD-DT, MILIP, MIR1250, MIR1268B, MIR3065, MIR3186, MIR338, MIR3615, MIR3678, MIR4316, MIR4525, MIR4730, MIR4738, MIR4739, MIR4740, MIR636, MIR6516, MIR657, MIR6785, MIR6786, MIR6787, MIR6868, MRPL12, MRPL38, MRPL58, MRPS7, MXRA7, MYADML2, MYO15B, NARF, NARF-AS2, NAT9, NDUFAF8, NHERF1, NOTUM, NPB, NPLOC4, NPTX1, NT5C, NUP85, OGFOD3, OTOP2, OTOP3, OXLD1, P4HB, PCYT2, PDE6G, PGS1, PPP1R27, PRCD, PRPSAP1, PVALEF, PYCR1, QRICH2, RAB37, RAB40B, RAC3, RBFOX3, RECQL5, RENO1, REVSEX, RFNG, RHBDF2, RNF157, RNF157-AS1, RNF213, RNF213-AS1, ROCR, RPL38, RPTOR, SAP30BP, SAP30BP-AS1, SCARNA16, SCAT1, SDK2, SEC14L1, SECTM1, SEPTIN9, SEPTIN9-DT, SGSH, SIRT7, SLC16A3, SLC16A5, SLC25A10, SLC25A19, SLC26A11, SLC38A10, SLC39A11, SLC9A3R1-AS1, SMIM5, SMIM6, SNHG16, SNHG20, SNORD134, SNORD1A, SNORD1B, SNORD1C, SOCS3, SOCS3-DT, SOX9, SOX9-AS1, SOX9CRE1, SPHK1, SRP68, SRSF2, SSTR2, ST6GALNAC1, ST6GALNAC2, SUMO2, SYNGR2, TBC1D16, TBCD, TEN1, TEN1-CDK3, TEPSIN, TEX19, TIMP2, TK1, TMC6, TMC8, TMEM104, TMEM105, TMEM235, TMEM94, TNRC6C, TRIM47, TRIM65, TRR-CCT1-1, TRR-CCT2-1, TRR-TCG3-1, TRX-CAT1-8, TSEN54, TSPAN10, TTYH2, UBALD2, UBE2O, UNC13D, UNK, USH1G, USP36, UTS2R, VCF1, WBP2, WDR45B, ZACN, ZNF750
See casesPathogenic
(Oct 23, 2012)
no assertion criteria provided
3.
GRCh37:
Chr17:73512305
GRCh38:
Chr17:75516224
TSEN54not providedBenign
(Jun 19, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr17:73512354
GRCh38:
Chr17:75516273
TSEN54not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr17:73512363
GRCh38:
Chr17:75516282
TSEN54not providedBenign
(Jun 28, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr17:73512386
GRCh38:
Chr17:75516305
TSEN54not providedBenign
(Jun 28, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr17:73512642
GRCh38:
Chr17:75516561
LOC112533671, TSEN54M1LOlivopontocerebellar hypoplasiaPathogenic
(Feb 8, 2013)
criteria provided, single submitter
8.
GRCh37:
Chr17:73512643
GRCh38:
Chr17:75516562
LOC112533671, TSEN54M1Tnot providedLikely pathogenic
(Mar 9, 2020)
criteria provided, single submitter
9.
GRCh37:
Chr17:73512643-73512644
GRCh38:
Chr17:75516562-75516563
LOC112533671, TSEN54not specified, Pontocerebellar hypoplasia type 4, Pontoneocerebellar hypoplasia,
not provided
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr17:73512647-73512648
GRCh38:
Chr17:75516566-75516567
LOC112533671, TSEN54not providedUncertain significance
(Jun 3, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr17:73512647
GRCh38:
Chr17:75516566
LOC112533671, TSEN54E2Dnot providedUncertain significance
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr17:73512648
GRCh38:
Chr17:75516567
LOC112533671, TSEN54P3Snot providedUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr17:73512653-73512654
GRCh38:
Chr17:75516572-75516573
LOC112533671, TSEN54not providedUncertain significance
(Oct 14, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr17:73512653
GRCh38:
Chr17:75516572
LOC112533671, TSEN54E4DPontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 5, not specified,
not provided, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr17:73512654
GRCh38:
Chr17:75516573
TSEN54, LOC112533671P5SPontoneocerebellar hypoplasia, not providedUncertain significance
(Aug 1, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr17:73512657
GRCh38:
Chr17:75516576
LOC112533671, TSEN54E6Qnot provided, Pontoneocerebellar hypoplasiaUncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr17:73512659
GRCh38:
Chr17:75516578
LOC112533671, TSEN54E6Dnot providedLikely benign
(Oct 10, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr17:73512661
GRCh38:
Chr17:75516580
LOC112533671, TSEN54P7Lnot providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr17:73512666
GRCh38:
Chr17:75516585
LOC112533671, TSEN54A9Tnot providedUncertain significance
(Dec 7, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr17:73512678
GRCh38:
Chr17:75516597
LOC112533671, TSEN54P13SInborn genetic diseasesUncertain significance
(Aug 2, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr17:73512705
GRCh38:
Chr17:75516624
LOC112533671, TSEN54not providedLikely benign
(Sep 12, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr17:73512807
GRCh38:
Chr17:75516726
LOC112533671, TSEN54not providedLikely benign
(Feb 12, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr17:73512831
GRCh38:
Chr17:75516750
LOC112533671, TSEN54R21GInborn genetic diseasesUncertain significance
(Sep 22, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr17:73512831
GRCh38:
Chr17:75516750
LOC112533671, TSEN54R21Wnot providedUncertain significance
(May 13, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr17:73512853
GRCh38:
Chr17:75516772
TSEN54S28LPontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 5,
Inborn genetic diseases, Pontoneocerebellar hypoplasia, not provided,
not specified
Conflicting interpretations of pathogenicity
(Apr 20, 2023)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr17:73512869-73512870
GRCh38:
Chr17:75516788-75516789
TSEN54Q35fsnot providedPathogenic
(Feb 10, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr17:73512878
GRCh38:
Chr17:75516797
TSEN54not providedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr17:73512880
GRCh38:
Chr17:75516799
TSEN54S37Wnot providedUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr17:73512884
GRCh38:
Chr17:75516803
TSEN54H38QPontoneocerebellar hypoplasia, not specified, not provided,
Pontocerebellar hypoplasia type 4
Benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr17:73512896
GRCh38:
Chr17:75516815
TSEN54not providedLikely benign
(Jan 16, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr17:73512913
GRCh38:
Chr17:75516832
TSEN54S48Lnot providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr17:73512915
GRCh38:
Chr17:75516834
TSEN54A49Tnot providedUncertain significance
(Mar 12, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr17:73512921
GRCh38:
Chr17:75516840
TSEN54Q51Enot providedUncertain significance
(May 13, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr17:73512923
GRCh38:
Chr17:75516842
TSEN54Q51Hnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr17:73512928
GRCh38:
Chr17:75516847
TSEN54E53Gnot providedUncertain significance
(Apr 30, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr17:73512929
GRCh38:
Chr17:75516848
TSEN54not providedLikely benign
(Dec 3, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr17:73512933
GRCh38:
Chr17:75516852
TSEN54not providedLikely benign
(Sep 10, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr17:73512937
GRCh38:
Chr17:75516856
TSEN54R56HPontocerebellar hypoplasia type 2AUncertain significance
(Sep 28, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr17:73512945
GRCh38:
Chr17:75516864
TSEN54R59Gnot provided, Pontocerebellar hypoplasia type 2AUncertain significance
(Aug 21, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr17:73512946
GRCh38:
Chr17:75516865
TSEN54R59QPontoneocerebellar hypoplasia, not providedUncertain significance
(Jan 6, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr17:73512951
GRCh38:
Chr17:75516870
TSEN54E61Knot providedUncertain significance
(Mar 9, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr17:73512965
GRCh38:
Chr17:75516884
TSEN54not providedUncertain significance
(Apr 16, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr17:73512967-73512968
GRCh38:
Chr17:75516886-75516887
TSEN54L66Rnot providedUncertain significance
(May 27, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr17:73512967
GRCh38:
Chr17:75516886
TSEN54L66Pnot specified, not providedUncertain significance
(Jan 19, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr17:73512970
GRCh38:
Chr17:75516889
TSEN54A67Gnot providedUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr17:73512970-73512971
GRCh38:
Chr17:75516889-75516890
TSEN54Q69fsnot providedPathogenic
(Sep 13, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr17:73512970
GRCh38:
Chr17:75516889
TSEN54A67Vnot providedUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr17:73512977
GRCh38:
Chr17:75516896
TSEN54Q69HInborn genetic diseasesUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr17:73512981
GRCh38:
Chr17:75516900
TSEN54V71Mnot providedUncertain significance
(May 31, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr17:73512992
GRCh38:
Chr17:75516911
TSEN54not providedUncertain significance
(Mar 19, 2019)
criteria provided, single submitter
51.
GRCh37:
Chr17:73512994
GRCh38:
Chr17:75516913
TSEN54Pontocerebellar hypoplasia type 4Pathogenic
(May 4, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr17:73512994-73512995
GRCh38:
Chr17:75516913-75516914
TSEN54not providedUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr17:73512998
GRCh38:
Chr17:75516917
TSEN54not providedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr17:73513001
GRCh38:
Chr17:75516920
TSEN54not providedLikely benign
(Oct 16, 2017)
criteria provided, single submitter
55.
GRCh37:
Chr17:73513005
GRCh38:
Chr17:75516924
TSEN54not providedLikely benign
(Oct 21, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr17:73513008
GRCh38:
Chr17:75516927
TSEN54not specified, not providedLikely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr17:73513050
GRCh38:
Chr17:75516969
TSEN54not specifiedLikely benigncriteria provided, single submitter
58.
GRCh37:
Chr17:73513072
GRCh38:
Chr17:75516991
TSEN54not specified, not providedBenign
(Oct 22, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr17:73513074
GRCh38:
Chr17:75516993
TSEN54not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr17:73513075
GRCh38:
Chr17:75516994
TSEN54not providedLikely benign
(Sep 15, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr17:73513083
GRCh38:
Chr17:75517002
TSEN54not providedUncertain significance
(Jun 13, 2017)
criteria provided, single submitter
62.
GRCh37:
Chr17:73513085
GRCh38:
Chr17:75517004
TSEN54not providedLikely benign
(Jul 29, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr17:73513117
GRCh38:
Chr17:75517036
TSEN54Pontocerebellar hypoplasia type 4Likely pathogenic
(May 4, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr17:73513136
GRCh38:
Chr17:75517055
TSEN54E90KInborn genetic diseasesUncertain significance
(Aug 28, 2023)
criteria provided, single submitter
65.
GRCh37:
Chr17:73513145
GRCh38:
Chr17:75517064
TSEN54S93Pnot provided, Pontocerebellar hypoplasia type 4Uncertain significance
(Dec 28, 2021)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr17:73513146
GRCh38:
Chr17:75517065
TSEN54S93Fnot providedUncertain significance
(Dec 25, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr17:73513152
GRCh38:
Chr17:75517071
TSEN54A95Vnot providedUncertain significance
(Oct 2, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr17:73513153
GRCh38:
Chr17:75517072
TSEN54not specifiedUncertain significance
(Sep 18, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr17:73513156
GRCh38:
Chr17:75517075
TSEN54Pontoneocerebellar hypoplasia, not specified, not provided
Benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr17:73513162
GRCh38:
Chr17:75517081
TSEN54Pontoneocerebellar hypoplasia, not providedConflicting interpretations of pathogenicity
(Aug 20, 2018)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr17:73513165
GRCh38:
Chr17:75517084
TSEN54Pontoneocerebellar hypoplasia, not provided, not specified
Conflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr17:73513167
GRCh38:
Chr17:75517086
TSEN54not providedLikely benign
(May 25, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr17:73513183-73513191
GRCh38:
Chr17:75517102-75517110
TSEN54not provided, not specifiedBenign
(Jun 28, 2018)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr17:73513185
GRCh38:
Chr17:75517104
TSEN54Pontocerebellar hypoplasia type 5, not provided, not specified,
Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4
Benign
(Sep 10, 2021)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr17:73513193-73513202
GRCh38:
Chr17:75517112-75517121
TSEN54not providedLikely benign
(Jan 20, 2019)
criteria provided, single submitter
76.
GRCh37:
Chr17:73513234
GRCh38:
Chr17:75517153
TSEN54Pontoneocerebellar hypoplasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr17:73513244
GRCh38:
Chr17:75517163
TSEN54not providedLikely benign
(Oct 25, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr17:73513245
GRCh38:
Chr17:75517164
TSEN54K97Qnot providedUncertain significance
(Jun 30, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr17:73513246-73513248
GRCh38:
Chr17:75517165-75517167
TSEN54not providedUncertain significance
(Oct 27, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr17:73513258
GRCh38:
Chr17:75517177
TSEN54T101IInborn genetic diseasesUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr17:73513258
GRCh38:
Chr17:75517177
TSEN54T101Snot providedUncertain significance
(Jan 11, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr17:73513268
GRCh38:
Chr17:75517187
TSEN54not providedLikely benign
(Sep 27, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr17:73513271
GRCh38:
Chr17:75517190
TSEN54not providedUncertain significance
(Apr 14, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr17:73513281
GRCh38:
Chr17:75517200
TSEN54R109GPontoneocerebellar hypoplasia, not specified, not provided
Benign
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr17:73513289
GRCh38:
Chr17:75517208
TSEN54Pontoneocerebellar hypoplasia, not specified, not provided
Benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr17:73513297
GRCh38:
Chr17:75517216
TSEN54P114LPontoneocerebellar hypoplasiaUncertain significance
(Aug 1, 2019)
no assertion criteria provided
87.
GRCh37:
Chr17:73513304
GRCh38:
Chr17:75517223
TSEN54not providedLikely benign
(May 12, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr17:73513317
GRCh38:
Chr17:75517236
TSEN54not providedLikely benign
(Jan 15, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr17:73513323
GRCh38:
Chr17:75517242
TSEN54C123SPontoneocerebellar hypoplasia, not providedUncertain significance
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr17:73513327-73513328
GRCh38:
Chr17:75517246-75517247
TSEN54not providedUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr17:73513330
GRCh38:
Chr17:75517249
TSEN54Pontoneocerebellar hypoplasiaUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr17:73513334
GRCh38:
Chr17:75517253
TSEN54not providedLikely benign
(Sep 28, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr17:73513382
GRCh38:
Chr17:75517301
TSEN54not providedLikely benign
(Jun 28, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr17:73513416
GRCh38:
Chr17:75517335
TSEN54not providedBenign
(Jan 16, 2020)
criteria provided, single submitter
95.
GRCh37:
Chr17:73513434
GRCh38:
Chr17:75517353
TSEN54not providedBenign
(Jun 28, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr17:73513490
GRCh38:
Chr17:75517409
TSEN54not providedLikely benign
(Jul 8, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr17:73513619
GRCh38:
Chr17:75517538
TSEN54not specified, not providedBenign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr17:73513629
GRCh38:
Chr17:75517548
TSEN54not specifiedUncertain significance
(Aug 5, 2015)
criteria provided, single submitter
99.
GRCh37:
Chr17:73513632
GRCh38:
Chr17:75517551
TSEN54not providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr17:73513636
GRCh38:
Chr17:75517555
TSEN54not providedUncertain significance
(Jul 11, 2019)
criteria provided, single submitter
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