| - 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:
- Chr17:76088317-81044553
- GRCh38:
- Chr17:78092236-83086677
| AATK, ACTG1, AFMID, ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, BIRC5, C17orf99, C1QTNF1, C1QTNF1-AS1, CANT1, CARD14, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD7, CENPX, CEP131, CEP295NL, CHMP6, CSNK1D, CYBC1, CYTH1, DCXR, DCXR-DT, DNAH17, DNAH17-AS1, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, FAAP100, FASN, FN3K, FN3KRP, FOXK2, FSCN2, GAA, GCGR, GPS1, HEXD, HEXD-IT1, HGS, LGALS3BP, LINC00482, LINC01970, LINC01971, LINC01977, LINC01978, LINC01979, LINC01993, LINC02078, LINC03048, LOC101928855, LOC101929552, LOC105371910, LOC105371912, LOC105371925, LOC108254691, LOC108281162, LOC108348028, LOC110599586, LOC112533674, LOC112533675, LOC112533676, LOC112533677, LOC112533678, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276480, LOC116276481, LOC116276482, LOC116276483, LOC116276484, LOC116276485, LOC121627814, LOC121627815, LOC121627816, LOC121627817, LOC121627818, LOC121627819, LOC121627820, LOC121852953, LOC121852954, LOC121852955, LOC121852956, LOC121852957, LOC125316806, LOC125316807, LOC125316808, LOC125316809, LOC125316810, LOC125316811, LOC125316812, LOC125316813, LOC125316814, LOC125316815, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862653, LOC126862654, LOC126862655, LOC126862656, LOC126862657, LOC126862658, LOC126862659, LOC126862660, LOC126862661, LOC126862662, LOC126862663, LOC126862664, LOC126862665, LOC126862666, LOC126862667, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC129390940, LOC129390941, LOC129390942, LOC129390943, LOC129390944, LOC129390945, LOC129390946, LOC129390947, LOC129390948, LOC129390949, LOC129390950, 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, LOC132090480, LOC132090481, LOC132090482, LOC132090896, LOC400627, LRRC45, MAFG, MAFG-AS1, MCRIP1, METRNL, MILIP, MIR1250, MIR1268B, MIR3065, MIR3186, MIR338, MIR4525, MIR4730, MIR4739, MIR4740, MIR657, MIR6786, MIR6787, MRPL12, MYADML2, NARF, NARF-AS2, NDUFAF8, NOTUM, NPB, NPLOC4, NPTX1, OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PGS1, PPP1R27, PVALEF, PYCR1, RAB40B, RAC3, RBFOX3, RENO1, RFNG, RNF213, RNF213-AS1, RPTOR, SCAT1, SECTM1, SGSH, SIRT7, SLC16A3, SLC25A10, SLC26A11, SLC38A10, SNORD134, SOCS3, SOCS3-DT, SYNGR2, TBC1D16, TBCD, TEPSIN, TEX19, TIMP2, TK1, TMC6, TMC8, TMEM105, TMEM235, TNRC6C, TRX-CAT1-8, TSPAN10, USP36, UTS2R, WDR45B, ZNF750 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr17:76898041-81044553
- GRCh38:
- Chr17:78901959-83086677
| LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC129390945, LOC129390946, LOC129390947, LOC129390948, LOC129390949, LOC129390950, 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, LOC132090482, LOC132090896, LOC400627, LRRC45, MAFG, MAFG-AS1, MCRIP1, METRNL, MILIP, MIR1250, MIR1268B, MIR3065, MIR3186, MIR338, MIR4525, MIR4730, MIR4739, MIR4740, MIR657, MIR6786, MIR6787, MRPL12, MYADML2, NARF, NARF-AS2, NDUFAF8, NOTUM, NPB, NPLOC4, NPTX1, OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PPP1R27, PVALEF, PYCR1, RAB40B, RAC3, RBFOX3, RENO1, RFNG, RNF213, RNF213-AS1, RPTOR, SECTM1, SGSH, SIRT7, SLC16A3, SLC25A10, SLC26A11, SLC38A10, SNORD134, TBC1D16, TBCD, TEPSIN, TEX19, TIMP2, TMEM105, TRX-CAT1-8, TSPAN10, UTS2R, WDR45B, ZNF750, AATK, ACTG1, ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, C1QTNF1, C1QTNF1-AS1, CANT1, CARD14, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD7, CENPX, CEP131, CEP295NL, CHMP6, CSNK1D, CYBC1, DCXR, DCXR-DT, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, FAAP100, FASN, FN3K, FN3KRP, FOXK2, FSCN2, GAA, GCGR, GPS1, HEXD, HEXD-IT1, HGS, LGALS3BP, LINC00482, LINC01970, LINC01971, LINC01977, LINC01978, LINC01979, LINC02078, LINC03048, LOC101928855, LOC101929552, LOC105371925, LOC108254691, LOC108281162, LOC108348028, LOC112533676, LOC112533677, LOC112533678, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276483, LOC116276484, LOC116276485, LOC121627816, LOC121627817, LOC121627818, LOC121627819, LOC121627820, LOC121852953, LOC121852954, LOC121852955, LOC121852956, LOC121852957, LOC125316808, LOC125316809, LOC125316810, LOC125316811, LOC125316812, LOC125316813, LOC125316814, LOC125316815, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862658, LOC126862659, LOC126862660, LOC126862661, LOC126862662, LOC126862663, LOC126862664, LOC126862665, LOC126862666, LOC126862667, LOC126862668, LOC126862669, LOC126862670 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr17:76914732-80978971
- GRCh38:
- Chr17:78918650-83021095
| AATK, ACTG1, ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, C1QTNF1, C1QTNF1-AS1, CANT1, CARD14, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD7, CENPX, CEP131, CHMP6, CSNK1D, CYBC1, DCXR, DCXR-DT, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, FAAP100, FASN, FN3K, FN3KRP, FOXK2, FSCN2, GAA, GCGR, GPS1, HEXD, HEXD-IT1, HGS, LGALS3BP, LINC00482, LINC01970, LINC01971, LINC01977, LINC01978, LINC01979, LINC02078, LINC03048, LOC101928855, LOC101929552, LOC105371925, LOC108254691, LOC108281162, LOC108348028, LOC112533676, LOC112533677, LOC112533678, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276483, LOC116276484, LOC116276485, LOC121627816, LOC121627817, LOC121627818, LOC121627819, LOC121627820, LOC121852953, LOC121852954, LOC121852955, LOC121852956, LOC121852957, LOC125316808, LOC125316809, LOC125316810, LOC125316811, LOC125316812, LOC125316813, LOC125316814, LOC125316815, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862658, LOC126862659, LOC126862660, LOC126862661, LOC126862662, LOC126862663, LOC126862664, LOC126862665, LOC126862666, LOC126862667, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC129390945, LOC129390946, LOC129390947, LOC129390948, LOC129390949, LOC129390950, 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, LOC132090482, LOC132090896, LOC400627, LRRC45, MAFG, MAFG-AS1, MCRIP1, MILIP, MIR1250, MIR1268B, MIR3065, MIR3186, MIR338, MIR4525, MIR4730, MIR4739, MIR4740, MIR657, MIR6786, MIR6787, MRPL12, MYADML2, NARF, NARF-AS2, NDUFAF8, NOTUM, NPB, NPLOC4, NPTX1, OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PPP1R27, PVALEF, PYCR1, RAB40B, RAC3, RBFOX3, RENO1, RFNG, RNF213, RNF213-AS1, RPTOR, SECTM1, SGSH, SIRT7, SLC16A3, SLC25A10, SLC26A11, SLC38A10, SNORD134, TBC1D16, TBCD, TEPSIN, TEX19, TIMP2, TMEM105, TRX-CAT1-8, TSPAN10, UTS2R, WDR45B, ZNF750 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr17:78981996-81048189
- GRCh38:
- Chr17:81008196-83102584
| AATK, ACTG1, ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, CCDC137, CCDC57, CD7, CENPX, CEP131, CSNK1D, CYBC1, DCXR, DCXR-DT, DUS1L, FAAP100, FASN, FN3K, FN3KRP, FOXK2, FSCN2, GCGR, GPS1, HEXD, HEXD-IT1, HGS, LINC00482, LINC01970, LINC01971, LINC03048, LOC101929552, LOC105371925, LOC108254691, LOC108348028, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276484, LOC116276485, LOC121627820, LOC121852955, LOC121852956, LOC121852957, LOC125316814, LOC125316815, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC129390948, LOC129390949, LOC129390950, 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, LRRC45, MAFG, MAFG-AS1, MCRIP1, METRNL, MILIP, MIR1250, MIR3065, MIR3186, MIR338, MIR4525, MIR4740, MIR657, MIR6786, MIR6787, MRPL12, MYADML2, NARF, NARF-AS2, NDUFAF8, NOTUM, NPB, NPLOC4, OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PPP1R27, PVALEF, PYCR1, RAB40B, RAC3, RENO1, RFNG, SECTM1, SIRT7, SLC16A3, SLC25A10, SLC38A10, SNORD134, TBCD, TEPSIN, TEX19, TMEM105, TRX-CAT1-8, TSPAN10, UTS2R, WDR45B, ZNF750 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr17:79375766-81041938
- GRCh38:
- Chr17:81401966-83084062
| 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, LRRC45, MAFG, MAFG-AS1, MCRIP1, METRNL, MILIP, MIR3186, MIR4525, MIR6786, MIR6787, MRPL12, MYADML2, NARF, NARF-AS2, NOTUM, NPB, NPLOC4, OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PPP1R27, PYCR1, RAB40B, RAC3, RFNG, SECTM1, SIRT7, SLC16A3, SLC25A10, SNORD134, TBCD, TEX19, TRX-CAT1-8, TSPAN10, UTS2R, WDR45B, ZNF750, ACTG1, ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, B3GNTL1, BAHCC1, CCDC137, CCDC57, CD7, CENPX, CSNK1D, CYBC1, DCXR, DCXR-DT, DUS1L, FAAP100, FASN, FN3K, FN3KRP, FOXK2, FSCN2, GCGR, GPS1, HEXD, HEXD-IT1, HGS, LINC01970, LINC01971, LOC101929552, LOC108254691, LOC108348028, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276485, LOC121627820, LOC121852955, LOC121852956, LOC121852957, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC129390948, LOC129390949, LOC129390950, 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 | | See cases | Likely pathogenic (Aug 19, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr17:79670122
- GRCh38:
- Chr17:81703092
| MRPL12 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79670273
- GRCh38:
- Chr17:81703243
| MRPL12 | | not provided | Benign (Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79670386
- GRCh38:
- Chr17:81703356
| MRPL12 | | not provided | Benign (Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79670486
- GRCh38:
- Chr17:81703456
| MRPL12 | | not specified | Likely benign (Jan 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79670502
- GRCh38:
- Chr17:81703472
| MRPL12 | | not specified | Likely benign (Oct 7, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79670538
- GRCh38:
- Chr17:81703508
| MRPL12 | P3S | not provided | Likely benign (Nov 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79670566
- GRCh38:
- Chr17:81703536
| MRPL12 | P12R | not provided, Inborn genetic diseases | Uncertain significance (Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:79670575
- GRCh38:
- Chr17:81703545
| MRPL12 | G15E | not provided | Benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79670604
- GRCh38:
- Chr17:81703574
| MRPL12 | R25G | not provided | Uncertain significance (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79670642
- GRCh38:
- Chr17:81703612
| MRPL12 | | not provided | Benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79670696
- GRCh38:
- Chr17:81703666
| MRPL12 | | not provided | Benign (Jun 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671154
- GRCh38:
- Chr17:81704124
| MRPL12 | | not provided | Likely benign (Jul 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671208
- GRCh38:
- Chr17:81704178
| MRPL12 | | not provided | Benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671259-79671261
- GRCh38:
- Chr17:81704229-81704231
| MRPL12 | | not provided | Benign (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:79671268
- GRCh38:
- Chr17:81704238
| MRPL12 | | not specified | Likely benign (Mar 25, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671275
- GRCh38:
- Chr17:81704245
| MRPL12 | | not provided | Likely benign (Sep 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671276
- GRCh38:
- Chr17:81704246
| MRPL12 | R26Q | not provided, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:79671280
- GRCh38:
- Chr17:81704250
| MRPL12 | Q27H | not provided | Uncertain significance (May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671286
- GRCh38:
- Chr17:81704256
| MRPL12 | | not specified | Likely benign (May 22, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671287
- GRCh38:
- Chr17:81704257
| MRPL12 | C30R | not provided | Uncertain significance (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671296
- GRCh38:
- Chr17:81704266
| MRPL12 | A33T | not provided | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671298
- GRCh38:
- Chr17:81704268
| MRPL12 | | not specified, not provided | Benign/Likely benign (Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:79671302
- GRCh38:
- Chr17:81704272
| MRPL12 | R35G | Inborn genetic diseases | Uncertain significance (Dec 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671332
- GRCh38:
- Chr17:81704302
| MRPL12 | C45R | not specified, not provided | Benign/Likely benign (Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:79671384
- GRCh38:
- Chr17:81704354
| MRPL12 | P62R | Inborn genetic diseases | Uncertain significance (Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671384
- GRCh38:
- Chr17:81704354
| MRPL12 | P62H | not provided | Uncertain significance (Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671426
- GRCh38:
- Chr17:81704396
| MRPL12 | L76P | not provided | Uncertain significance (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671455
- GRCh38:
- Chr17:81704425
| MRPL12 | | not provided | Likely benign (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671464
- GRCh38:
- Chr17:81704434
| MRPL12 | | not specified | Likely benign (Feb 7, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671465
- GRCh38:
- Chr17:81704435
| MRPL12 | | not specified | Likely benign (Apr 13, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671469
- GRCh38:
- Chr17:81704439
| MRPL12 | | not provided | Likely benign (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671478
- GRCh38:
- Chr17:81704448
| MRPL12 | | not specified, not provided | Likely benign (Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:79671630
- GRCh38:
- Chr17:81704600
| MRPL12 | | not provided | Likely benign (Jan 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671653
- GRCh38:
- Chr17:81704623
| MRPL12 | | not provided | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671686
- GRCh38:
- Chr17:81704656
| MRPL12 | | not provided | Likely benign (Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:79671690
- GRCh38:
- Chr17:81704660
| MRPL12 | L97F | Inborn genetic diseases | Uncertain significance (May 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671714
- GRCh38:
- Chr17:81704684
| MRPL12 | S105P | not provided, not specified | Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:79671726-79671727
- GRCh38:
- Chr17:81704696-81704697
| MRPL12 | | not provided | Uncertain significance (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79671727
- GRCh38:
- Chr17:81704697
| MRPL12 | P109L | not provided | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79673809
- GRCh38:
- Chr17:81706779
| MRPL12 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79673916-79673918
- GRCh38:
- Chr17:81706886-81706888
| MRPL12 | | not provided | Benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79673919
- GRCh38:
- Chr17:81706889
| MRPL12 | | not provided | Likely benign (Sep 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79673938
- GRCh38:
- Chr17:81706908
| MRPL12 | | not provided | Uncertain significance (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79673962
- GRCh38:
- Chr17:81706932
| MRPL12 | | not provided | Likely benign (Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:79673967
- GRCh38:
- Chr17:81706937
| MRPL12 | E126G | Inborn genetic diseases | Uncertain significance (Jun 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79673969
- GRCh38:
- Chr17:81706939
| MRPL12 | R127W | not provided | Uncertain significance (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79673970
- GRCh38:
- Chr17:81706940
| MRPL12 | R127Q | not provided | Uncertain significance (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79673974
- GRCh38:
- Chr17:81706944
| MRPL12 | | not provided | Likely benign (Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79673984
- GRCh38:
- Chr17:81706954
| MRPL12 | V132I | not provided | Uncertain significance (May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79673989
- GRCh38:
- Chr17:81706959
| MRPL12 | | not provided | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674001
- GRCh38:
- Chr17:81706971
| MRPL12 | | not provided | Likely benign (Jun 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:79674035
- GRCh38:
- Chr17:81707005
| MRPL12 | I149V | not provided | Uncertain significance (Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674043
- GRCh38:
- Chr17:81707013
| MRPL12 | | not provided | Likely benign (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674045
- GRCh38:
- Chr17:81707015
| MRPL12 | Y152C | Inborn genetic diseases | Uncertain significance (Oct 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674055
- GRCh38:
- Chr17:81707025
| MRPL12 | | not provided | Likely benign (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674069
- GRCh38:
- Chr17:81707039
| MRPL12 | Q160R | Inborn genetic diseases | Uncertain significance (Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674081
- GRCh38:
- Chr17:81707051
| MRPL12 | | not provided | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674094
- GRCh38:
- Chr17:81707064
| MRPL12 | | not provided | Benign (Jul 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674106
- GRCh38:
- Chr17:81707076
| MRPL12 | | not provided | Likely benign (Jul 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674141-79674142
- GRCh38:
- Chr17:81707111-81707112
| MRPL12 | | not specified | Likely benign (May 5, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674170
- GRCh38:
- Chr17:81707140
| MRPL12 | E166G | not provided | Uncertain significance (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674201
- GRCh38:
- Chr17:81707171
| MRPL12 | | not specified, not provided | Likely benign (Jun 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:79674215
- GRCh38:
- Chr17:81707185
| MRPL12 | A181V | Combined oxidative phosphorylation deficiency 45 | Pathogenic (Jul 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr17:79674230
- GRCh38:
- Chr17:81707200
| MRPL12 | A186V | not provided | Uncertain significance (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674249
- GRCh38:
- Chr17:81707219
| MRPL12 | | not provided | Likely benign (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:79674253
- GRCh38:
- Chr17:81707223
| MRPL12 | T194A | not provided, Inborn genetic diseases | Uncertain significance (Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:79674256
- GRCh38:
- Chr17:81707226
| MRPL12 | V195M | not provided | Uncertain significance (Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674280
- GRCh38:
- Chr17:81707250
| MRPL12 | | not provided | Likely benign (Apr 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674301-79674302
- GRCh38:
- Chr17:81707271-81707272
| MRPL12 | | not provided | Benign (Jan 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674375
- GRCh38:
- Chr17:81707345
| MRPL12 | | not provided | Benign (Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79674395
- GRCh38:
- Chr17:81707365
| MRPL12 | | not provided | Likely benign (Sep 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79539041-81052322
| TBCD, TEX19, TSPAN10, UTS2R, WDR45B, ZNF750, ASPSCR1, ALYREF, ANAPC11, ARHGDIA, ARL16, B3GNTL1, CCDC137, CCDC57, CD7, CENPX, CSNK1D, CYBC1, DCXR, DUS1L, FASN, FN3K, FN3KRP, FOXK2, GCGR, GPS1, HEXD, HEXD-IT1, HGS, LRRC45, MAFG, MCRIP1, METRNL, MRPL12, MYADML2, NARF, NOTUM, NPB, NPLOC4, OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PPP1R27, PYCR1, RAB40B, RAC3, RFNG, SECTM1, SIRT7, SLC16A3, SLC25A10 | | See cases | Pathogenic (Jan 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79618104-79894690
| ALYREF, ANAPC11, ARHGDIA, ARL16, CCDC137, GCGR, HGS, MAFG, MCRIP1, MRPL12, NPB, OXLD1, P4HB, PCYT2, PDE6G, PPP1R27, PYCR1, SIRT7, SLC25A10 | | not provided | Uncertain significance (Jan 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79477716-80900339
| MAFG, MCRIP1, MRPL12, OXLD1, P4HB, PCYT2, PDE6G, NARF, NOTUM, NPB, NPLOC4, OGFOD3, MYADML2, ACTG1, ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, CCDC137, CCDC57, CD7, CENPX, CSNK1D, CYBC1, DCXR, DUS1L, FAAP100, FASN, FN3K, FN3KRP, FOXK2, FSCN2, GCGR, GPS1, HEXD, HEXD-IT1, HGS, LRRC45, PPP1R27, PYCR1, RAB40B, RAC3, RFNG, SECTM1, SIRT7, SLC16A3, SLC25A10, TBCD, TEX19, TSPAN10, UTS2R, WDR45B, ZNF750 | | not provided | Uncertain significance (Feb 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79618104-79674270
| ARL16, CCDC137, HGS, MRPL12, OXLD1, PDE6G | | not provided | Pathogenic (Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73481509-81043199
| AANAT, AATK, ACOX1, ACTG1, AFMID, ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, B3GNTL1, BAHCC1, BAIAP2, BIRC5, C17orf99, C1QTNF1, CANT1, CARD14, CASKIN2, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD7, CDK3, CENPX, CEP131, CHMP6, CSNK1D, CYBC1, CYGB, CYTH1, DCXR, DNAH17, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, EVPL, EXOC7, FAAP100, FASN, FBF1, FN3K, FN3KRP, FOXJ1, FOXK2, FSCN2, GAA, GALK1, GALR2, GCGR, GPS1, H3-3B, HEXD, HEXD-IT1, HGS, ITGB4, JMJD6, LGALS3BP, LLGL2, LRRC45, MAFG, MCRIP1, METRNL, METTL23, MFSD11, MGAT5B, MIR338, MRPL12, MRPL38, MXRA7, MYADML2, NARF, NDUFAF8, NOTUM, NPB, NPLOC4, NPTX1, OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PGS1, PPP1R27, PRCD, PRPSAP1, PYCR1, QRICH2, RAB40B, RAC3, RBFOX3, RECQL5, RFNG, RHBDF2, RNF157, RNF213, RPTOR, SAP30BP, SEC14L1, SECTM1, SEPTIN9, SGSH, SIRT7, SLC16A3, SLC25A10, SLC26A11, SLC38A10, SMIM5, SMIM6, SOCS3, SPHK1, SRP68, SRSF2, ST6GALNAC1, ST6GALNAC2, SYNGR2, TBC1D16, TBCD, TEN1, TEPSIN, TEX19, TIMP2, TK1, TMC6, TMC8, TMEM105, TMEM235, TMEM94, TNRC6C, TRIM47, TRIM65, TSEN54, TSPAN10, UBALD2, UBE2O, UNC13D, UNK, USP36, UTS2R, WBP2, WDR45B, ZACN, ZNF750 | | not provided | Pathogenic (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62778720-81041938
| AANAT, AATK, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ACOX1, ACTG1, AFMID, ALYREF, AMZ2, ANAPC11, APOH, ARHGDIA, ARL16, ARMC7, ARSG, ASPSCR1, ATP5PD, AXIN2, B3GNTL1, BAHCC1, BAIAP2, BIRC5, BPTF, BTBD17, C17orf58, C17orf80, C17orf99, C1QTNF1, CACNG1, CACNG4, CACNG5, CANT1, CARD14, CASKIN2, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD7, CDC42EP4, CDK3, CDR2L, CENPX, CEP112, CEP131, CHMP6, COG1, CPSF4L, CSNK1D, CYBC1, CYGB, CYTH1, DCXR, DNAH17, DNAI2, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, EVPL, EXOC7, FAAP100, FADS6, FAM104A, FAM20A, FASN, FBF1, FDXR, FN3K, FN3KRP, FOXJ1, FOXK2, FSCN2, GAA, GALK1, GALR2, GCGR, GGA3, GNA13, GPR142, GPRC5C, GPS1, GRB2, GRIN2C, H3-3B, HELZ, HEXD, HEXD-IT1, HGS, HID1, ITGB4, JMJD6, JPT1, KCNJ16, KCNJ2, KCTD2, KIF19, KPNA2, LGALS3BP, LLGL2, LRRC37A3, LRRC45, MAFG, MAP2K6, MCRIP1, METRNL, METTL23, MFSD11, MGAT5B, MIF4GD, MIR338, MRPL12, MRPL38, MRPL58, MRPS7, MXRA7, MYADML2, NARF, NAT9, NDUFAF8, NHERF1, NOL11, NOTUM, NPB, NPLOC4, NPTX1, NT5C, NUP85, OGFOD3, OTOP2, OTOP3, OXLD1, P4HB, PCYT2, PDE6G, PGS1, PITPNC1, PPP1R27, PRCD, PRKAR1A, PRKCA, PRPSAP1, PSMD12, PYCR1, QRICH2, RAB37, RAB40B, RAC3, RBFOX3, RECQL5, RFNG, RGS9, RHBDF2, RNF157, RNF213, RPL38, RPTOR, SAP30BP, SDK2, SEC14L1, SECTM1, SEPTIN9, SGSH, SIRT7, SLC16A3, SLC16A5, SLC16A6, SLC25A10, SLC25A19, SLC26A11, SLC38A10, SLC39A11, SMIM5, SMIM6, SOCS3, SOX9, SPHK1, SRP68, SRSF2, SSTR2, ST6GALNAC1, ST6GALNAC2, SUMO2, SYNGR2, TBC1D16, TBCD, TEN1, TEPSIN, TEX19, TIMP2, TK1, TMC6, TMC8, TMEM104, TMEM105, TMEM235, TMEM94, TNRC6C, TRIM47, TRIM65, TSEN54, TSPAN10, TTYH2, UBALD2, UBE2O, UNC13D, UNK, USH1G, USP36, UTS2R, WBP2, WDR45B, WIPI1, ZACN, ZNF750 | | not provided | Pathogenic (May 26, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr17:78608912-81041938
| AATK, ACTG1, ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, B3GNTL1, BAHCC1, BAIAP2, CCDC137, CCDC57, CD7, CENPX, CEP131, CHMP6, CSNK1D, CYBC1, DCXR, DUS1L, FAAP100, FASN, FN3K, FN3KRP, FOXK2, FSCN2, GCGR, GPS1, HEXD, HEXD-IT1, HGS, LRRC45, MAFG, MCRIP1, METRNL, MIR338, MRPL12, MYADML2, NARF, NDUFAF8, NOTUM, NPB, NPLOC4, OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PPP1R27, PYCR1, RAB40B, RAC3, RFNG, RPTOR, SECTM1, SIRT7, SLC16A3, SLC25A10, SLC38A10, TBCD, TEPSIN, TEX19, TMEM105, TSPAN10, UTS2R, WDR45B, ZNF750 | | not provided | Pathogenic (Sep 18, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr17:79496613-79693150
| ARL16, CCDC137, FAAP100, FSCN2, HGS, MRPL12, NPLOC4, OXLD1, PDE6G, SLC25A10, TSPAN10 | | not provided | Uncertain significance (Jul 20, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr17:79663313-80197463
| ALYREF, ANAPC11, ARHGDIA, ASPSCR1, CCDC57, CENPX, DCXR, DUS1L, FASN, GCGR, GPS1, HGS, LRRC45, MAFG, MCRIP1, MRPL12, MYADML2, NOTUM, NPB, P4HB, PCYT2, PPP1R27, PYCR1, RAC3, RFNG, SIRT7, SLC16A3, SLC25A10 | | not provided | Uncertain significance (Sep 27, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr17:79531886-79685043
| ARL16, CCDC137, HGS, MRPL12, NPLOC4, OXLD1, PDE6G, SLC25A10, TSPAN10 | | not provided | Uncertain significance (May 31, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr17:12344-81057996
| AANAT, AARSD1, AATF, AATK, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCC3, ABHD15, ABI3, ABR, ACACA, ACADVL, ACAP1, ACBD4, ACE, ACLY, ACOX1, ACSF2, ACTG1, ADAM11, ADAP2, ADORA2B, ADPRM, AFMID, AIPL1, AKAP1, AKAP10, ALDH3A1, ALDH3A2, ALDOC, ALKBH5, ALOX12, ALOX12B, ALOX15, ALOX15B, ALOXE3, ALYREF, AMZ2, ANAPC11, ANKFN1, ANKFY1, ANKRD13B, ANKRD40, AOC2, AOC3, AP2B1, APOH, APPBP2, ARHGAP23, ARHGAP27, ARHGAP44, ARHGDIA, ARHGEF15, ARL16, ARL17A, ARL17B, ARL4D, ARL5C, ARMC7, ARRB2, ARSG, ASB16, ASGR1, ASGR2, ASIC2, ASPA, ASPSCR1, ATAD5, ATP1B2, ATP2A3, ATP5MC1, ATP5PD, ATP6V0A1, ATPAF2, ATXN7L3, AURKB, AXIN2, B3GNTL1, B4GALNT2, B9D1, BAHCC1, BAIAP2, BCAS3, BCL6B, BECN1, BHLHA9, BIRC5, BLMH, BLTP2, BORCS6, BPTF, BRCA1, BRIP1, BTBD17, C17orf100, C17orf107, C17orf47, C17orf49, C17orf50, C17orf58, C17orf67, C17orf75, C17orf78, C17orf80, C17orf99, C1QBP, C1QL1, C1QTNF1, CA10, CA4, CACNA1G, CACNB1, CACNG1, CACNG4, CACNG5, CALCOCO2, CAMKK1, CAMTA2, CANT1, CARD14, CASC3, CASKIN2, CAVIN1, CBX1, CBX2, CBX4, CBX8, CCDC103, CCDC137, CCDC144A, CCDC40, CCDC42, CCDC43, CCDC47, CCDC57, CCL1, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL2, CCL23, CCL3, CCL3L1, CCL3L3, CCL4, CCL4L1, CCL4L2, CCL5, CCL7, CCL8, CCR10, CCR7, CCT6B, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD300LG, CD68, CD7, CD79B, CDC27, CDC42EP4, CDC6, CDK12, CDK3, CDK5R1, CDK5RAP3, CDR2L, CDRT15, CDRT15L2, CDRT4, CENPV, CENPX, CEP112, CEP131, CEP95, CFAP52, CFAP97D1, CHAD, CHCT1, CHD3, CHMP6, CHRNB1, CHRNE, CISD3, CLDN7, CLEC10A, CLTC, CLUH, CNP, CNTD1, CNTNAP1, CNTROB, COA3, COASY, COG1, COIL, COL1A1, COPRS, COPS3, COPZ2, CORO6, COX10, COX11, CPD, CPSF4L, CRHR1, CRK, CRLF3, CRYBA1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, CTC1, CTDNEP1, CTNS, CUEDC1, CWC25, CXCL16, CYB561, CYB5D1, CYB5D2, CYBC1, CYGB, CYTH1, DBF4B, DCAF7, DCAKD, DCXR, DDX42, DDX5, DDX52, DERL2, DGKE, DHRS11, DHRS13, DHRS7B, DHRS7C, DHX33, DHX40, DHX58, DHX8, DLG4, DLX3, DLX4, DNAH17, DNAH2, DNAH9, DNAI2, DNAJC7, DOC2B, DPH1, DRC3, DRG2, DUS1L, DUSP14, DUSP3, DVL2, DYNLL2, DYNLL2-DT, EFCAB13, EFCAB3, EFCAB5, EFNB3, ELAC2, EFTUD2, EIF1, EIF4A1, EIF4A3, EIF5A, ELP5, EMC6, EME1, ENDOV, ENGASE, ENO3, ENPP7, EPN2, EPN3, EPOP, EPX, ERAL1, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EVPLL, EXOC7, EZH1, FAAP100, FADS6, FAM117A, FAM171A2, FAM20A, FAM222B, FAM83G, FASN, FBF1, FBXL20, FBXO39, FBXO47, FBXW10, FBXW10B, FDXR, FGF11, FKBP10, FLCN, FLII, FLOT2, FMNL1, FN3K, FN3KRP, FNDC8, FOXJ1, FOXK2, FOXN1, FSCN2, FTSJ3, FXR2, FZD2, G6PC1, G6PC3, GAA, GABARAP, GALK1, GALR2, GAS2L2, GAS7, GAST, GCGR, GDPD1, GEMIN4, GFAP, GGA3, GGNBP2, GGT6, GH1, GH2, GHDC, GID4, GIP, GIT1, GJC1, GJD3, GLOD4, GLP2R, GLTPD2, GNA13, GNGT2, GOSR1, GOSR2, GP1BA, GPATCH8, GPR142, GPR179, GPRC5C, GPS1, GPS2, GRAP, GRAPL, GRB2, GRB7, GRIN2C, GRN, GSDMA, GSDMB, GUCY2D, H3-3B, HAP1, HASPIN, HCRT, HDAC5, HEATR6, HEATR9, HELZ, HES7, HEXD, HEXD-IT1, HEXIM1, HEXIM2, HGS, HIC1, HID1, HIGD1B, HLF, HNF1B, HOXB1, HOXB13, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HROB, HS3ST3A1, HS3ST3B1, HSD17B1, HSF5, HSPB9, ICAM2, IFI35, IFT20, IGF2BP1, IGFBP4, IKZF3, INCA1, INPP5K, INTS2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JMJD6, JPT1, JUP, KANSL1, KAT2A, KAT7, KCNAB3, KCNH4, KCNH6, KCNJ12, KCNJ16, KCNJ2, KCTD11, KCTD2, KDM6B, KIAA0753, KIF18B, KIF19, KIF1C, KIF2B, KLHL10, KLHL11, KPNA2, KPNB1, KRBA2, KRT10, KRT10-AS1, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT20, KRT222, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP16-1, KRTAP17-1, KRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-12, KRTAP4-2, KRTAP4-3, KRTAP4-4, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-8, KRTAP9-9, KSR1, LASP1, LGALS3BP, LGALS9, LGALS9B, LGALS9C, LHX1, LIAT1, LIG3, LIMD2, LINC02693, LINC02875, LINC02876, LLGL1, LLGL2, LOC100288728, LPO, LRRC37A, LRRC37A2, LRRC37A3, LRRC37B, LRRC3C, LRRC45, LRRC46, LRRC59, LRRC75A, LSM12, LUC7L3, LYRM9, LYZL6, MAFG, MAP2K3, MAP2K4, MAP2K6, MAP3K14, MAP3K3, MAPK7, MAPT, MARCHF10, MBTD1, MCRIP1, MED1, MED11, MED13, MED24, MED31, MED9, MEIOC, MEOX1, METRNL, METTL16, METTL23, METTL2A, MFAP4, MFSD11, MFSD6L, MGAT5B, MIEF2, MIEN1, MIF4GD, MILR1, MINK1, MIR10A, MIR132, MIR144, MIR152, MIR193A, MIR195, MIR196A1, MIR21, MIR212, MIR22, MIR338, MIR33B, MIR451A, MIR497HG, MIS12, MKS1, MLLT6, MLX, MMD, MMP28, MNT, MPDU1, MPO, MPP2, MPP3, MPRIP, MRC2, MRM1, MRM3, MRPL10, MRPL12, MRPL27, MRPL38, MRPL45, MRPL58, MRPS23, MRPS7, MSI2, MSL1, MTMR4, MTRNR2L1, MXRA7, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYL4, MYO15A, MYO18A, MYO19, MYO1C, MYO1D, MYOCD, NAA38, NACA2, NAGLU, NAGS, NARF, NAT9, NATD1, NBR1, NBR2, NCBP3, NCOR1, NDEL1, NDUFAF8, NEK8, NEURL4, NEUROD2, NF1, NFE2L1, NGFR, NHERF1, NKIRAS2, NLE1, NLGN2, NLK, NLRP1, NME1, NME1-NME2, NME2, NMT1, NOG, |