| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Oct 23, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr17:73512305
- GRCh38:
- Chr17:75516224
| TSEN54 | | not provided | Benign (Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512354
- GRCh38:
- Chr17:75516273
| TSEN54 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512363
- GRCh38:
- Chr17:75516282
| TSEN54 | | not provided | Benign (Jun 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512386
- GRCh38:
- Chr17:75516305
| TSEN54 | | not provided | Benign (Jun 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512642
- GRCh38:
- Chr17:75516561
| LOC112533671, TSEN54 | M1L | Olivopontocerebellar hypoplasia | Pathogenic (Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512643
- GRCh38:
- Chr17:75516562
| LOC112533671, TSEN54 | M1T | not provided | Likely pathogenic (Mar 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512643-73512644
- GRCh38:
- Chr17:75516562-75516563
| LOC112533671, TSEN54 | | not specified, Pontocerebellar hypoplasia type 4, Pontoneocerebellar hypoplasia, not provided | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:73512647-73512648
- GRCh38:
- Chr17:75516566-75516567
| LOC112533671, TSEN54 | | not provided | Uncertain significance (Jun 3, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512647
- GRCh38:
- Chr17:75516566
| LOC112533671, TSEN54 | E2D | not provided | Uncertain significance (May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73512648
- GRCh38:
- Chr17:75516567
| LOC112533671, TSEN54 | P3S | not provided | Uncertain significance (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512653-73512654
- GRCh38:
- Chr17:75516572-75516573
| LOC112533671, TSEN54 | | not provided | Uncertain significance (Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512653
- GRCh38:
- Chr17:75516572
| LOC112533671, TSEN54 | E4D | Pontoneocerebellar 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 |
| - GRCh37:
- Chr17:73512654
- GRCh38:
- Chr17:75516573
| TSEN54, LOC112533671 | P5S | Pontoneocerebellar hypoplasia, not provided | Uncertain significance (Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73512657
- GRCh38:
- Chr17:75516576
| LOC112533671, TSEN54 | E6Q | not provided, Pontoneocerebellar hypoplasia | Uncertain significance (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73512659
- GRCh38:
- Chr17:75516578
| LOC112533671, TSEN54 | E6D | not provided | Likely benign (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512661
- GRCh38:
- Chr17:75516580
| LOC112533671, TSEN54 | P7L | not provided | Uncertain significance (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512666
- GRCh38:
- Chr17:75516585
| LOC112533671, TSEN54 | A9T | not provided | Uncertain significance (Dec 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512678
- GRCh38:
- Chr17:75516597
| LOC112533671, TSEN54 | P13S | Inborn genetic diseases | Uncertain significance (Aug 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512705
- GRCh38:
- Chr17:75516624
| LOC112533671, TSEN54 | | not provided | Likely benign (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512807
- GRCh38:
- Chr17:75516726
| LOC112533671, TSEN54 | | not provided | Likely benign (Feb 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512831
- GRCh38:
- Chr17:75516750
| LOC112533671, TSEN54 | R21G | Inborn genetic diseases | Uncertain significance (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512831
- GRCh38:
- Chr17:75516750
| LOC112533671, TSEN54 | R21W | not provided | Uncertain significance (May 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512853
- GRCh38:
- Chr17:75516772
| TSEN54 | S28L | Pontocerebellar 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 |
| - GRCh37:
- Chr17:73512869-73512870
- GRCh38:
- Chr17:75516788-75516789
| TSEN54 | Q35fs | not provided | Pathogenic (Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512878
- GRCh38:
- Chr17:75516797
| TSEN54 | | not provided | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512880
- GRCh38:
- Chr17:75516799
| TSEN54 | S37W | not provided | Uncertain significance (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512884
- GRCh38:
- Chr17:75516803
| TSEN54 | H38Q | Pontoneocerebellar hypoplasia, not specified, not provided, Pontocerebellar hypoplasia type 4 | Benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73512896
- GRCh38:
- Chr17:75516815
| TSEN54 | | not provided | Likely benign (Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512913
- GRCh38:
- Chr17:75516832
| TSEN54 | S48L | not provided | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512915
- GRCh38:
- Chr17:75516834
| TSEN54 | A49T | not provided | Uncertain significance (Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512921
- GRCh38:
- Chr17:75516840
| TSEN54 | Q51E | not provided | Uncertain significance (May 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512923
- GRCh38:
- Chr17:75516842
| TSEN54 | Q51H | not provided | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512928
- GRCh38:
- Chr17:75516847
| TSEN54 | E53G | not provided | Uncertain significance (Apr 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73512929
- GRCh38:
- Chr17:75516848
| TSEN54 | | not provided | Likely benign (Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512933
- GRCh38:
- Chr17:75516852
| TSEN54 | | not provided | Likely benign (Sep 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512937
- GRCh38:
- Chr17:75516856
| TSEN54 | R56H | Pontocerebellar hypoplasia type 2A | Uncertain significance (Sep 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512945
- GRCh38:
- Chr17:75516864
| TSEN54 | R59G | not provided, Pontocerebellar hypoplasia type 2A | Uncertain significance (Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73512946
- GRCh38:
- Chr17:75516865
| TSEN54 | R59Q | Pontoneocerebellar hypoplasia, not provided | Uncertain significance (Jan 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73512951
- GRCh38:
- Chr17:75516870
| TSEN54 | E61K | not provided | Uncertain significance (Mar 9, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512965
- GRCh38:
- Chr17:75516884
| TSEN54 | | not provided | Uncertain significance (Apr 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512967-73512968
- GRCh38:
- Chr17:75516886-75516887
| TSEN54 | L66R | not provided | Uncertain significance (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512967
- GRCh38:
- Chr17:75516886
| TSEN54 | L66P | not specified, not provided | Uncertain significance (Jan 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73512970
- GRCh38:
- Chr17:75516889
| TSEN54 | A67G | not provided | Uncertain significance (Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512970-73512971
- GRCh38:
- Chr17:75516889-75516890
| TSEN54 | Q69fs | not provided | Pathogenic (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512970
- GRCh38:
- Chr17:75516889
| TSEN54 | A67V | not provided | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512977
- GRCh38:
- Chr17:75516896
| TSEN54 | Q69H | Inborn genetic diseases | Uncertain significance (Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512981
- GRCh38:
- Chr17:75516900
| TSEN54 | V71M | not provided | Uncertain significance (May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512992
- GRCh38:
- Chr17:75516911
| TSEN54 | | not provided | Uncertain significance (Mar 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512994
- GRCh38:
- Chr17:75516913
| TSEN54 | | Pontocerebellar hypoplasia type 4 | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512994-73512995
- GRCh38:
- Chr17:75516913-75516914
| TSEN54 | | not provided | Uncertain significance (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73512998
- GRCh38:
- Chr17:75516917
| TSEN54 | | not provided | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513001
- GRCh38:
- Chr17:75516920
| TSEN54 | | not provided | Likely benign (Oct 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513005
- GRCh38:
- Chr17:75516924
| TSEN54 | | not provided | Likely benign (Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513008
- GRCh38:
- Chr17:75516927
| TSEN54 | | not specified, not provided | Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73513050
- GRCh38:
- Chr17:75516969
| TSEN54 | | not specified | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513072
- GRCh38:
- Chr17:75516991
| TSEN54 | | not specified, not provided | Benign (Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73513074
- GRCh38:
- Chr17:75516993
| TSEN54 | | not provided | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513075
- GRCh38:
- Chr17:75516994
| TSEN54 | | not provided | Likely benign (Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513083
- GRCh38:
- Chr17:75517002
| TSEN54 | | not provided | Uncertain significance (Jun 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513085
- GRCh38:
- Chr17:75517004
| TSEN54 | | not provided | Likely benign (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513117
- GRCh38:
- Chr17:75517036
| TSEN54 | | Pontocerebellar hypoplasia type 4 | Likely pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513136
- GRCh38:
- Chr17:75517055
| TSEN54 | E90K | Inborn genetic diseases | Uncertain significance (Aug 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513145
- GRCh38:
- Chr17:75517064
| TSEN54 | S93P | not provided, Pontocerebellar hypoplasia type 4 | Uncertain significance (Dec 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73513146
- GRCh38:
- Chr17:75517065
| TSEN54 | S93F | not provided | Uncertain significance (Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513152
- GRCh38:
- Chr17:75517071
| TSEN54 | A95V | not provided | Uncertain significance (Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513153
- GRCh38:
- Chr17:75517072
| TSEN54 | | not specified | Uncertain significance (Sep 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513156
- GRCh38:
- Chr17:75517075
| TSEN54 | | Pontoneocerebellar hypoplasia, not specified, not provided
| Benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73513162
- GRCh38:
- Chr17:75517081
| TSEN54 | | Pontoneocerebellar hypoplasia, not provided | Conflicting interpretations of pathogenicity (Aug 20, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:73513165
- GRCh38:
- Chr17:75517084
| TSEN54 | | Pontoneocerebellar hypoplasia, not provided, not specified
| Conflicting interpretations of pathogenicity (Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:73513167
- GRCh38:
- Chr17:75517086
| TSEN54 | | not provided | Likely benign (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513183-73513191
- GRCh38:
- Chr17:75517102-75517110
| TSEN54 | | not provided, not specified | Benign (Jun 28, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73513185
- GRCh38:
- Chr17:75517104
| TSEN54 | | Pontocerebellar 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 |
| - GRCh37:
- Chr17:73513193-73513202
- GRCh38:
- Chr17:75517112-75517121
| TSEN54 | | not provided | Likely benign (Jan 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513234
- GRCh38:
- Chr17:75517153
| TSEN54 | | Pontoneocerebellar hypoplasia | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513244
- GRCh38:
- Chr17:75517163
| TSEN54 | | not provided | Likely benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513245
- GRCh38:
- Chr17:75517164
| TSEN54 | K97Q | not provided | Uncertain significance (Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513246-73513248
- GRCh38:
- Chr17:75517165-75517167
| TSEN54 | | not provided | Uncertain significance (Oct 27, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513258
- GRCh38:
- Chr17:75517177
| TSEN54 | T101I | Inborn genetic diseases | Uncertain significance (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513258
- GRCh38:
- Chr17:75517177
| TSEN54 | T101S | not provided | Uncertain significance (Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513268
- GRCh38:
- Chr17:75517187
| TSEN54 | | not provided | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513271
- GRCh38:
- Chr17:75517190
| TSEN54 | | not provided | Uncertain significance (Apr 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513281
- GRCh38:
- Chr17:75517200
| TSEN54 | R109G | Pontoneocerebellar hypoplasia, not specified, not provided
| Benign (Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73513289
- GRCh38:
- Chr17:75517208
| TSEN54 | | Pontoneocerebellar hypoplasia, not specified, not provided
| Benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73513297
- GRCh38:
- Chr17:75517216
| TSEN54 | P114L | Pontoneocerebellar hypoplasia | Uncertain significance (Aug 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr17:73513304
- GRCh38:
- Chr17:75517223
| TSEN54 | | not provided | Likely benign (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513317
- GRCh38:
- Chr17:75517236
| TSEN54 | | not provided | Likely benign (Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513323
- GRCh38:
- Chr17:75517242
| TSEN54 | C123S | Pontoneocerebellar hypoplasia, not provided | Uncertain significance (Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73513327-73513328
- GRCh38:
- Chr17:75517246-75517247
| TSEN54 | | not provided | Uncertain significance (Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513330
- GRCh38:
- Chr17:75517249
| TSEN54 | | Pontoneocerebellar hypoplasia | Uncertain significance (Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513334
- GRCh38:
- Chr17:75517253
| TSEN54 | | not provided | Likely benign (Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513382
- GRCh38:
- Chr17:75517301
| TSEN54 | | not provided | Likely benign (Jun 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513416
- GRCh38:
- Chr17:75517335
| TSEN54 | | not provided | Benign (Jan 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513434
- GRCh38:
- Chr17:75517353
| TSEN54 | | not provided | Benign (Jun 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513490
- GRCh38:
- Chr17:75517409
| TSEN54 | | not provided | Likely benign (Jul 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513619
- GRCh38:
- Chr17:75517538
| TSEN54 | | not specified, not provided | Benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73513629
- GRCh38:
- Chr17:75517548
| TSEN54 | | not specified | Uncertain significance (Aug 5, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513632
- GRCh38:
- Chr17:75517551
| TSEN54 | | not provided | Uncertain significance (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73513636
- GRCh38:
- Chr17:75517555
| TSEN54 | | not provided | Uncertain significance (Jul 11, 2019) | criteria provided, single submitter |