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Items: 98

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:67205220-81044553
GRCh38:
Chr17:69209079-83086677
LOC130061805, LOC130061806, LOC130061807, LOC130061808, LOC130061809, LOC130061810, LOC130061811, LOC130061812, LOC130061813, LOC130061814, LOC130061815, LOC130061816, LOC130061817, LOC130061818, LOC130061819, LOC130061820, LOC130061821, LOC130061822, LOC130061823, LOC130061824, LOC130061825, LOC130061826, LOC130061827, LOC130061828, LOC130061829, LOC130061830, LOC130061831, LOC130061832, LOC130061833, LOC130061834, LOC130061835, LOC130061836, LOC130061837, LOC130061838, LOC130061839, LOC130061840, LOC130061841, LOC130061842, LOC130061843, LOC130061844, LOC130061845, LOC130061846, LOC130061847, LOC130061848, LOC130061849, LOC130061850, LOC130061851, LOC130061852, LOC130061853, LOC130061854, LOC130061855, LOC130061856, LOC130061857, LOC130061858, LOC130061859, LOC130061860, LOC130061861, LOC130061862, LOC130061863, LOC130061864, LOC130061865, LOC130061866, LOC130061867, LOC130061868, LOC130061869, LOC130061870, LOC130061871, LOC130061872, LOC130061873, LOC130061874, LOC130061875, LOC130061876, LOC130061877, LOC130061878, LOC130061879, LOC130061880, LOC130061881, LOC130061882, LOC130061883, LOC130061884, LOC130061885, LOC130061886, LOC130061887, LOC130061888, LOC130061889, LOC130061890, LOC130061891, LOC130061892, LOC130061893, LOC130061894, LOC130061895, LOC130061896, LOC130061897, LOC130061898, LOC130061899, LOC130061900, LOC130061901, LOC130061902, LOC130061903, LOC130061904, LOC130061905, LOC130061906, LOC130061907, LOC130061908, LOC130061909, LOC130061910, LOC130061911, LOC130061912, LOC130061913, LOC130061914, LOC130061915, LOC130061916, LOC130061917, LOC130061918, LOC130061919, LOC130061920, LOC130061921, LOC130061922, LOC130061923, LOC130061924, LOC130061925, LOC130061926, LOC130061927, LOC130061928, LOC130061929, LOC130061930, LOC130061931, LOC130061932, LOC130061933, LOC130061934, LOC130061935, LOC130061936, LOC130061937, LOC130061938, LOC130061939, LOC130061940, LOC130061941, LOC130061942, LOC130061943, LOC130061944, LOC130061945, LOC130061946, LOC130061947, LOC130061948, LOC130061949, LOC130061950, LOC130061951, LOC130061952, LOC130061953, LOC130061954, LOC130061955, LOC130061956, LOC130061957, LOC130061958, LOC130061959, LOC130061960, LOC130061961, LOC130061962, LOC130061963, LOC130061964, LOC130061965, LOC130061966, LOC130061967, LOC130061968, LOC130061969, LOC130061970, LOC130061971, LOC130061972, LOC130061973, LOC130061974, LOC130061975, LOC130061976, LOC130061977, LOC130061978, LOC130061979, LOC130061980, LOC130061981, LOC130061982, LOC130061983, LOC130061984, LOC130061985, LOC130061986, LOC130061987, LOC130061988, LOC130061989, LOC130061990, LOC130061991, LOC130061992, LOC130061993, LOC130061994, LOC130061995, LOC130061996, LOC130061997, LOC130061998, LOC130061999, LOC130062000, LOC130062001, LOC130062002, LOC130062003, LOC130062004, LOC130062005, LOC130062006, LOC130062007, LOC130062008, LOC130062009, LOC130062010, LOC130062011, LOC130062012, LOC130062013, LOC130062014, LOC130062015, LOC130062016, LOC130062017, LOC130062018, LOC130062019, LOC130062020, LOC130062021, LOC130062022, LOC130062023, LOC130062024, LOC130062025, LOC130062026, LOC130062027, LOC130062028, LOC130062029, LOC130062030, LOC130062031, LOC130062032, LOC130062033, LOC130062034, LOC130062035, LOC130062036, LOC130062037, LOC130062038, LOC130062039, LOC130062040, LOC130062041, LOC130062042, LOC130062043, LOC130062044, LOC130062045, LOC130062046, LOC130062047, LOC130062048, LOC130062049, LOC130062050, LOC130062051, LOC130062052, LOC130062053, LOC130062054, LOC130062055, LOC130062056, LOC130062057, LOC130062058, LOC130062059, LOC130062060, LOC130062061, LOC130062062, LOC130062063, LOC130062064, LOC130062065, LOC130062066, LOC130062067, LOC131477896, LOC131520253, LOC132090477, LOC132090478, LOC132090479, LOC132090480, LOC132090481, LOC132090482, LOC132090895, LOC132090896, LOC400622, LOC400627, LRRC45, MAFG, MAFG-AS1, MAP2K6, MCRIP1, METRNL, METTL23, MFSD11, MGAT5B, MGC16275, MIF4GD, MIF4GD-DT, MILIP, MIR1250, MIR1268B, MIR3065, MIR3186, MIR338, MIR3615, MIR3678, MIR4316, MIR4525, MIR4730, MIR4738, MIR4739, MIR4740, MIR636, MIR6516, MIR657, MIR6785, MIR6786, MIR6787, MIR6868, MRPL12, MRPL38, MRPL58, MRPS7, MXRA7, MYADML2, MYO15B, NARF, NARF-AS2, NAT9, NDUFAF8, NHERF1, NOTUM, NPB, NPLOC4, NPTX1, NT5C, NUP85, OGFOD3, OTOP2, OTOP3, OXLD1, P4HB, PCYT2, PDE6G, PGS1, PPP1R27, PRCD, PRO1804, PRPSAP1, PVALEF, PYCR1, QRICH2, RAB37, RAB40B, RAC3, RBFOX3, RECQL5, RENO1, REVSEX, RFNG, RHBDF2, RNF157, RNF157-AS1, RNF213, RNF213-AS1, ROCR, RPL38, RPTOR, SAP30BP, SAP30BP-AS1, SCARNA16, SCAT1, SDK2, SEC14L1, SECTM1, SEPTIN9, SEPTIN9-DT, SGSH, SIRT7, SLC16A3, SLC16A5, SLC25A10, SLC25A19, SLC26A11, SLC38A10, SLC39A11, SLC9A3R1-AS1, SMIM5, SMIM6, SNHG16, SNHG20, SNORD134, SNORD1A, SNORD1B, SNORD1C, SOCS3, SOCS3-DT, SOX9, SOX9-AS1, SOX9CRE1, SPHK1, SRP68, SRSF2, SSTR2, ST6GALNAC1, ST6GALNAC2, SUMO2, SYNGR2, TBC1D16, TBCD, TEN1, TEN1-CDK3, TEPSIN, TEX19, TIMP2, TK1, TMC6, TMC8, TMEM104, TMEM105, TMEM235, TMEM94, TNRC6C, TRIM47, TRIM65, TRR-CCT1-1, TRR-CCT2-1, TRR-TCG3-1, TRX-CAT1-8, TSEN54, TSPAN10, TTYH2, UBALD2, UBE2O, UNC13D, UNK, USH1G, USP36, UTS2R, VCF1, WBP2, WDR45B, ZACN, ZNF750, GCGR, GGA3, GPR142, GPRC5C, GPS1, GRB2, GRIN2C, H3-3B, HEXD, HEXD-IT1, HGS, HID1, HID1-AS1, ITGB4, JMJD6, JPT1, KCNJ16, KCNJ2, KCNJ2-AS1, KCTD2, KIF19, LACAT1, LGALS3BP, LINC00469, LINC00482, LINC00511, LINC00673, LINC00868, LINC01028, LINC01152, LINC01483, LINC01497, LINC01970, LINC01971, LINC01973, LINC01977, LINC01978, LINC01979, LINC01987, LINC01993, LINC02003, LINC02074, LINC02078, LINC02080, LINC02092, LINC02097, LINC03048, LLGL2, LOC100134391, LOC100507351, LOC101928251, LOC101928343, LOC101928855, LOC101929552, LOC102723517, LOC105274304, LOC105371880, LOC105371899, LOC105371910, LOC105371912, LOC105371925, LOC108004545, LOC108004546, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021839, LOC108021840, LOC108021842, LOC108021843, LOC108021844, LOC108021845, LOC108021846, LOC108254686, LOC108254691, LOC108281162, LOC108348028, LOC110121373, LOC110599586, LOC111413039, LOC111429614, LOC112268198, LOC112533666, LOC112533667, LOC112533668, LOC112533669, LOC112533670, LOC112533671, LOC112533672, LOC112533673, LOC112533674, LOC112533675, LOC112533676, LOC112533677, LOC112533678, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276479, LOC116276480, LOC116276481, LOC116276482, LOC116276483, LOC116276484, LOC116276485, LOC121603772, LOC121603773, LOC121627807, LOC121627808, LOC121627809, LOC121627810, LOC121627811, LOC121627812, LOC121627813, LOC121627814, LOC121627815, LOC121627816, LOC121627817, LOC121627818, LOC121627819, LOC121627820, LOC121852949, LOC121852950, LOC121852951, LOC121852952, LOC121852953, LOC121852954, LOC121852955, LOC121852956, LOC121852957, LOC122455342, LOC125316786, LOC125316787, LOC125316788, LOC125316789, LOC125316790, LOC125316791, LOC125316792, LOC125316793, LOC125316794, LOC125316795, LOC125316796, LOC125316797, LOC125316798, LOC125316799, LOC125316800, LOC125316801, LOC125316802, LOC125316804, LOC125316805, LOC125316806, LOC125316807, LOC125316808, LOC125316809, LOC125316810, LOC125316811, LOC125316812, LOC125316813, LOC125316814, LOC125316815, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862624, LOC126862625, LOC126862626, LOC126862627, LOC126862628, LOC126862629, LOC126862630, LOC126862631, LOC126862632, LOC126862633, LOC126862634, LOC126862635, LOC126862636, LOC126862637, LOC126862638, LOC126862639, LOC126862640, LOC126862641, LOC126862642, LOC126862643, LOC126862644, LOC126862645, LOC126862646, LOC126862647, LOC126862648, LOC126862649, LOC126862650, LOC126862651, LOC126862652, LOC126862653, LOC126862654, LOC126862655, LOC126862656, LOC126862657, LOC126862658, LOC126862659, LOC126862660, LOC126862661, LOC126862662, LOC126862663, LOC126862664, LOC126862665, LOC126862666, LOC126862667, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC129390927, LOC129390928, LOC129390929, LOC129390930, LOC129390931, LOC129390932, LOC129390933, LOC129390934, LOC129390935, LOC129390936, LOC129390937, LOC129390938, LOC129390939, LOC129390940, LOC129390941, LOC129390942, LOC129390943, LOC129390944, LOC129390945, LOC129390946, LOC129390947, LOC129390948, LOC129390949, LOC129390950, LOC130061530, LOC130061531, LOC130061532, LOC130061533, LOC130061534, LOC130061535, LOC130061536, LOC130061537, LOC130061538, LOC130061539, LOC130061540, LOC130061541, LOC130061542, LOC130061543, LOC130061544, LOC130061545, LOC130061546, LOC130061547, LOC130061548, LOC130061549, LOC130061550, LOC130061551, LOC130061552, LOC130061553, LOC130061554, LOC130061555, LOC130061556, LOC130061557, LOC130061558, LOC130061559, LOC130061560, LOC130061561, LOC130061562, LOC130061563, LOC130061564, LOC130061565, LOC130061566, LOC130061567, LOC130061568, LOC130061569, LOC130061570, LOC130061571, LOC130061572, LOC130061573, LOC130061574, LOC130061575, LOC130061576, LOC130061577, LOC130061578, LOC130061579, LOC130061580, LOC130061581, LOC130061582, LOC130061583, LOC130061584, LOC130061585, LOC130061586, LOC130061587, LOC130061588, LOC130061589, LOC130061590, LOC130061591, LOC130061592, LOC130061593, LOC130061594, LOC130061595, LOC130061596, LOC130061597, LOC130061598, LOC130061599, LOC130061600, LOC130061601, LOC130061602, LOC130061603, LOC130061604, LOC130061605, LOC130061606, LOC130061607, LOC130061608, LOC130061609, LOC130061610, LOC130061611, LOC130061612, LOC130061613, LOC130061614, LOC130061615, LOC130061616, LOC130061617, LOC130061618, LOC130061619, LOC130061620, LOC130061621, LOC130061622, LOC130061623, LOC130061624, LOC130061625, LOC130061626, LOC130061627, LOC130061628, LOC130061629, LOC130061630, LOC130061631, LOC130061632, LOC130061633, LOC130061634, LOC130061635, LOC130061636, LOC130061637, LOC130061638, LOC130061639, LOC130061640, LOC130061641, LOC130061642, LOC130061643, LOC130061644, LOC130061645, LOC130061646, LOC130061647, LOC130061648, LOC130061649, LOC130061650, LOC130061651, LOC130061652, LOC130061653, LOC130061654, LOC130061655, LOC130061656, LOC130061657, LOC130061658, LOC130061659, LOC130061660, LOC130061661, LOC130061662, LOC130061663, LOC130061664, LOC130061665, LOC130061666, LOC130061667, LOC130061668, LOC130061669, LOC130061670, LOC130061671, LOC130061672, LOC130061673, LOC130061674, LOC130061675, LOC130061676, LOC130061677, LOC130061678, LOC130061679, LOC130061680, LOC130061681, LOC130061682, LOC130061683, LOC130061684, LOC130061685, LOC130061686, LOC130061687, LOC130061688, LOC130061689, LOC130061690, LOC130061691, LOC130061692, LOC130061693, LOC130061694, LOC130061695, LOC130061696, LOC130061697, LOC130061698, LOC130061699, LOC130061700, LOC130061701, LOC130061702, LOC130061703, LOC130061704, LOC130061705, LOC130061706, LOC130061707, LOC130061708, LOC130061709, LOC130061710, LOC130061711, LOC130061712, LOC130061713, LOC130061714, LOC130061715, LOC130061716, LOC130061717, LOC130061718, LOC130061719, LOC130061720, LOC130061721, LOC130061722, LOC130061723, LOC130061724, LOC130061725, LOC130061726, LOC130061727, LOC130061728, LOC130061729, LOC130061730, LOC130061731, LOC130061732, LOC130061733, LOC130061734, LOC130061735, LOC130061736, LOC130061737, LOC130061738, LOC130061739, LOC130061740, LOC130061741, LOC130061742, LOC130061743, LOC130061744, LOC130061745, LOC130061746, LOC130061747, LOC130061748, LOC130061749, LOC130061750, LOC130061751, LOC130061752, LOC130061753, LOC130061754, LOC130061755, LOC130061756, LOC130061757, LOC130061758, LOC130061759, LOC130061760, LOC130061761, LOC130061762, LOC130061763, LOC130061764, LOC130061765, LOC130061766, LOC130061767, LOC130061768, LOC130061769, LOC130061770, LOC130061771, LOC130061772, LOC130061773, LOC130061774, LOC130061775, LOC130061776, LOC130061777, LOC130061778, LOC130061779, LOC130061780, LOC130061781, LOC130061782, LOC130061783, LOC130061784, LOC130061785, LOC130061786, LOC130061787, LOC130061788, LOC130061789, LOC130061790, LOC130061791, LOC130061792, LOC130061793, LOC130061794, LOC130061795, LOC130061796, LOC130061797, LOC130061798, LOC130061799, LOC130061800, LOC130061801, LOC130061802, LOC130061803, LOC130061804, AANAT, AATK, ABCA10, ABCA5, ACOX1, ACTG1, AFMID, ALYREF, ANAPC11, ARHGDIA, ARL16, ARMC7, ASPSCR1, ATP5PD, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, BIRC5, BTBD17, C17orf80, C17orf99, C1QTNF1, C1QTNF1-AS1, CANT1, CARD14, CASC17, CASKIN2, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD300A, CD300C, CD300E, CD300H, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD7, CDC42EP4, CDK3, CDR2L, CENPX, CEP131, CEP295NL, CHMP6, COG1, CPSF4L, CSNK1D, CYBC1, CYGB, CYTH1, DCXR, DCXR-DT, DNAH17, DNAH17-AS1, DNAI2, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, EVPL, EXOC7, FAAP100, FADS6, FASN, FBF1, FDXR, FN3K, FN3KRP, FOXJ1, FOXK2, FSCN2, GAA, GALK1, GALR2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr17:67912576-81048189
GRCh38:
Chr17:69916435-83102552
AANAT, AATK, ACOX1, ACTG1, AFMID, ALYREF, ANAPC11, ARHGDIA, ARL16, ARMC7, ASPSCR1, ATP5PD, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, BIRC5, BTBD17, C17orf80, C17orf99, C1QTNF1, C1QTNF1-AS1, CANT1, CARD14, CASC17, CASKIN2, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD300A, CD300C, CD300E, CD300H, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD7, CDC42EP4, CDK3, CDR2L, CENPX, CEP131, CEP295NL, CHMP6, COG1, CPSF4L, CSNK1D, CYBC1, CYGB, CYTH1, DCXR, DCXR-DT, DNAH17, DNAH17-AS1, DNAI2, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, EVPL, EXOC7, FAAP100, FADS6, FASN, FBF1, FDXR, FN3K, FN3KRP, FOXJ1, FOXK2, FSCN2, GAA, GALK1, GALR2, GCGR, GGA3, GPR142, GPRC5C, GPS1, GRB2, GRIN2C, H3-3B, HEXD, HEXD-IT1, HGS, HID1, HID1-AS1, ITGB4, JMJD6, JPT1, KCNJ16, KCNJ2, KCNJ2-AS1, KCTD2, KIF19, LACAT1, LGALS3BP, LINC00469, LINC00482, LINC00511, LINC00673, LINC00868, LINC01028, LINC01152, LINC01497, LINC01970, LINC01971, LINC01973, LINC01977, LINC01978, LINC01979, LINC01987, LINC01993, LINC02003, LINC02074, LINC02078, LINC02080, LINC02092, LINC02097, LINC03048, LLGL2, LOC100134391, LOC100507351, LOC101928251, LOC101928343, LOC101928855, LOC101929552, LOC102723517, LOC105274304, LOC105371899, LOC105371910, LOC105371912, LOC105371925, LOC108004545, LOC108004546, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021839, LOC108021840, LOC108021842, LOC108021843, LOC108021844, LOC108021845, LOC108021846, LOC108254686, LOC108254691, LOC108281162, LOC108348028, LOC110121373, LOC110599586, LOC111413039, LOC111429614, LOC112268198, LOC112533666, LOC112533667, LOC112533668, LOC112533669, LOC112533670, LOC112533671, LOC112533672, LOC112533673, LOC112533674, LOC112533675, LOC112533676, LOC112533677, LOC112533678, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276479, LOC116276480, LOC116276481, LOC116276482, LOC116276483, LOC116276484, LOC116276485, LOC121603772, LOC121603773, LOC121627807, LOC121627808, LOC121627809, LOC121627810, LOC121627811, LOC121627812, LOC121627813, LOC121627814, LOC121627815, LOC121627816, LOC121627817, LOC121627818, LOC121627819, LOC121627820, LOC121852949, LOC121852950, LOC121852951, LOC121852952, LOC121852953, LOC121852954, LOC121852955, LOC121852956, LOC121852957, LOC122455342, LOC125316787, LOC125316788, LOC125316789, LOC125316790, LOC125316791, LOC125316792, LOC125316793, LOC125316794, LOC125316795, LOC125316796, LOC125316797, LOC125316798, LOC125316799, LOC125316800, LOC125316801, LOC125316802, LOC125316804, LOC125316805, LOC125316806, LOC125316807, LOC125316808, LOC125316809, LOC125316810, LOC125316811, LOC125316812, LOC125316813, LOC125316814, LOC125316815, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862626, LOC126862627, LOC126862628, LOC126862629, LOC126862630, LOC126862631, LOC126862632, LOC126862633, LOC126862634, LOC126862635, LOC126862636, LOC126862637, LOC126862638, LOC126862639, LOC126862640, LOC126862641, LOC126862642, LOC126862643, LOC126862644, LOC126862645, LOC126862646, LOC126862647, LOC126862648, LOC126862649, LOC126862650, LOC126862651, LOC126862652, LOC126862653, LOC126862654, LOC126862655, LOC126862656, LOC126862657, LOC126862658, LOC126862659, LOC126862660, LOC126862661, LOC126862662, LOC126862663, LOC126862664, LOC126862665, LOC126862666, LOC126862667, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC129390930, LOC129390931, LOC129390932, LOC129390933, LOC129390934, LOC129390935, LOC129390936, LOC129390937, LOC129390938, LOC129390939, LOC129390940, LOC129390941, LOC129390942, LOC129390943, LOC129390944, LOC129390945, LOC129390946, LOC129390947, LOC129390948, LOC129390949, LOC129390950, LOC130061538, LOC130061539, LOC130061540, LOC130061541, LOC130061542, LOC130061543, LOC130061544, LOC130061545, LOC130061546, LOC130061547, LOC130061548, LOC130061549, LOC130061550, LOC130061551, LOC130061552, LOC130061553, LOC130061554, LOC130061555, LOC130061556, LOC130061557, LOC130061558, LOC130061559, LOC130061560, LOC130061561, LOC130061562, LOC130061563, LOC130061564, LOC130061565, LOC130061566, LOC130061567, LOC130061568, LOC130061569, LOC130061570, LOC130061571, LOC130061572, LOC130061573, LOC130061574, LOC130061575, LOC130061576, LOC130061577, LOC130061578, LOC130061579, LOC130061580, LOC130061581, LOC130061582, LOC130061583, LOC130061584, LOC130061585, LOC130061586, LOC130061587, LOC130061588, LOC130061589, LOC130061590, LOC130061591, LOC130061592, LOC130061593, LOC130061594, LOC130061595, LOC130061596, LOC130061597, LOC130061598, LOC130061599, LOC130061600, LOC130061601, LOC130061602, LOC130061603, LOC130061604, LOC130061605, LOC130061606, LOC130061607, LOC130061608, LOC130061609, LOC130061610, LOC130061611, LOC130061612, LOC130061613, LOC130061614, LOC130061615, LOC130061616, LOC130061617, LOC130061618, LOC130061619, LOC130061620, LOC130061621, LOC130061622, LOC130061623, LOC130061624, LOC130061625, LOC130061626, LOC130061627, LOC130061628, LOC130061629, LOC130061630, LOC130061631, LOC130061632, LOC130061633, LOC130061634, LOC130061635, LOC130061636, LOC130061637, LOC130061638, LOC130061639, LOC130061640, LOC130061641, LOC130061642, LOC130061643, LOC130061644, LOC130061645, LOC130061646, LOC130061647, LOC130061648, LOC130061649, LOC130061650, LOC130061651, LOC130061652, LOC130061653, LOC130061654, LOC130061655, LOC130061656, LOC130061657, LOC130061658, LOC130061659, LOC130061660, LOC130061661, LOC130061662, LOC130061663, LOC130061664, LOC130061665, LOC130061666, LOC130061667, LOC130061668, LOC130061669, LOC130061670, LOC130061671, LOC130061672, LOC130061673, LOC130061674, LOC130061675, LOC130061676, LOC130061677, LOC130061678, LOC130061679, LOC130061680, LOC130061681, LOC130061682, LOC130061683, LOC130061684, LOC130061685, LOC130061686, LOC130061687, LOC130061688, LOC130061689, LOC130061690, LOC130061691, LOC130061692, LOC130061693, LOC130061694, LOC130061695, LOC130061696, LOC130061697, LOC130061698, LOC130061699, LOC130061700, LOC130061701, LOC130061702, LOC130061703, LOC130061704, LOC130061705, LOC130061706, LOC130061707, LOC130061708, LOC130061709, LOC130061710, LOC130061711, LOC130061712, LOC130061713, LOC130061714, LOC130061715, LOC130061716, LOC130061717, LOC130061718, LOC130061719, LOC130061720, LOC130061721, LOC130061722, LOC130061723, LOC130061724, LOC130061725, LOC130061726, LOC130061727, LOC130061728, LOC130061729, LOC130061730, LOC130061731, LOC130061732, LOC130061733, LOC130061734, LOC130061735, LOC130061736, LOC130061737, LOC130061738, LOC130061739, LOC130061740, LOC130061741, LOC130061742, LOC130061743, LOC130061744, LOC130061745, LOC130061746, LOC130061747, LOC130061748, LOC130061749, LOC130061750, LOC130061751, LOC130061752, LOC130061753, LOC130061754, LOC130061755, LOC130061756, LOC130061757, LOC130061758, LOC130061759, LOC130061760, LOC130061761, LOC130061762, LOC130061763, LOC130061764, LOC130061765, LOC130061766, LOC130061767, LOC130061768, LOC130061769, LOC130061770, LOC130061771, LOC130061772, LOC130061773, LOC130061774, LOC130061775, LOC130061776, LOC130061777, LOC130061778, LOC130061779, LOC130061780, LOC130061781, LOC130061782, LOC130061783, LOC130061784, LOC130061785, LOC130061786, LOC130061787, LOC130061788, LOC130061789, LOC130061790, LOC130061791, LOC130061792, LOC130061793, LOC130061794, LOC130061795, LOC130061796, LOC130061797, LOC130061798, LOC130061799, LOC130061800, LOC130061801, LOC130061802, LOC130061803, LOC130061804, LOC130061805, LOC130061806, LOC130061807, LOC130061808, LOC130061809, LOC130061810, LOC130061811, LOC130061812, LOC130061813, LOC130061814, LOC130061815, LOC130061816, LOC130061817, LOC130061818, LOC130061819, LOC130061820, LOC130061821, LOC130061822, LOC130061823, LOC130061824, LOC130061825, LOC130061826, LOC130061827, LOC130061828, LOC130061829, LOC130061830, LOC130061831, LOC130061832, LOC130061833, LOC130061834, LOC130061835, LOC130061836, LOC130061837, LOC130061838, LOC130061839, LOC130061840, LOC130061841, LOC130061842, LOC130061843, LOC130061844, LOC130061845, LOC130061846, LOC130061847, LOC130061848, LOC130061849, LOC130061850, LOC130061851, LOC130061852, LOC130061853, LOC130061854, LOC130061855, LOC130061856, LOC130061857, LOC130061858, LOC130061859, LOC130061860, LOC130061861, LOC130061862, LOC130061863, LOC130061864, LOC130061865, LOC130061866, LOC130061867, LOC130061868, LOC130061869, LOC130061870, LOC130061871, LOC130061872, LOC130061873, LOC130061874, LOC130061875, LOC130061876, LOC130061877, LOC130061878, LOC130061879, LOC130061880, LOC130061881, LOC130061882, LOC130061883, LOC130061884, LOC130061885, LOC130061886, LOC130061887, LOC130061888, LOC130061889, LOC130061890, LOC130061891, LOC130061892, LOC130061893, LOC130061894, LOC130061895, LOC130061896, LOC130061897, LOC130061898, LOC130061899, LOC130061900, LOC130061901, LOC130061902, LOC130061903, LOC130061904, LOC130061905, LOC130061906, LOC130061907, LOC130061908, LOC130061909, LOC130061910, LOC130061911, LOC130061912, LOC130061913, LOC130061914, LOC130061915, LOC130061916, LOC130061917, LOC130061918, LOC130061919, LOC130061920, LOC130061921, LOC130061922, LOC130061923, LOC130061924, LOC130061925, LOC130061926, LOC130061927, LOC130061928, LOC130061929, LOC130061930, LOC130061931, LOC130061932, LOC130061933, LOC130061934, LOC130061935, LOC130061936, LOC130061937, LOC130061938, LOC130061939, LOC130061940, LOC130061941, LOC130061942, LOC130061943, LOC130061944, LOC130061945, LOC130061946, LOC130061947, LOC130061948, LOC130061949, LOC130061950, LOC130061951, LOC130061952, LOC130061953, LOC130061954, LOC130061955, LOC130061956, LOC130061957, LOC130061958, LOC130061959, LOC130061960, LOC130061961, LOC130061962, LOC130061963, LOC130061964, LOC130061965, LOC130061966, LOC130061967, LOC130061968, LOC130061969, LOC130061970, LOC130061971, LOC130061972, LOC130061973, LOC130061974, LOC130061975, LOC130061976, LOC130061977, LOC130061978, LOC130061979, LOC130061980, LOC130061981, LOC130061982, LOC130061983, LOC130061984, LOC130061985, LOC130061986, LOC130061987, LOC130061988, LOC130061989, LOC130061990, LOC130061991, LOC130061992, LOC130061993, LOC130061994, LOC130061995, LOC130061996, LOC130061997, LOC130061998, LOC130061999, LOC130062000, LOC130062001, LOC130062002, LOC130062003, LOC130062004, LOC130062005, LOC130062006, LOC130062007, LOC130062008, LOC130062009, LOC130062010, LOC130062011, LOC130062012, LOC130062013, LOC130062014, LOC130062015, LOC130062016, LOC130062017, LOC130062018, LOC130062019, LOC130062020, LOC130062021, LOC130062022, LOC130062023, LOC130062024, LOC130062025, LOC130062026, LOC130062027, LOC130062028, LOC130062029, LOC130062030, LOC130062031, LOC130062032, LOC130062033, LOC130062034, LOC130062035, LOC130062036, LOC130062037, LOC130062038, LOC130062039, LOC130062040, LOC130062041, LOC130062042, LOC130062043, LOC130062044, LOC130062045, LOC130062046, LOC130062047, LOC130062048, LOC130062049, LOC130062050, LOC130062051, LOC130062052, LOC130062053, LOC130062054, LOC130062055, LOC130062056, LOC130062057, LOC130062058, LOC130062059, LOC130062060, LOC130062061, LOC130062062, LOC130062063, LOC130062064, LOC130062065, LOC130062066, LOC130062067, LOC131477896, LOC131520253, LOC132090477, LOC132090478, LOC132090479, LOC132090480, LOC132090481, LOC132090482, LOC132090895, LOC132090896, LOC400622, LOC400627, LRRC45, MAFG, MAFG-AS1, MCRIP1, METRNL, METTL23, MFSD11, MGAT5B, MGC16275, MIF4GD, MIF4GD-DT, MILIP, MIR1250, MIR1268B, MIR3065, MIR3186, MIR338, MIR3615, MIR3678, MIR4316, MIR4525, MIR4730, MIR4738, MIR4739, MIR4740, MIR636, MIR6516, MIR657, MIR6785, MIR6786, MIR6787, MIR6868, MRPL12, MRPL38, MRPL58, MRPS7, MXRA7, MYADML2, MYO15B, NARF, NARF-AS2, NAT9, NDUFAF8, NHERF1, NOTUM, NPB, NPLOC4, NPTX1, NT5C, NUP85, OGFOD3, OTOP2, OTOP3, OXLD1, P4HB, PCYT2, PDE6G, PGS1, PPP1R27, PRCD, PRPSAP1, PVALEF, PYCR1, QRICH2, RAB37, RAB40B, RAC3, RBFOX3, RECQL5, RENO1, REVSEX, RFNG, RHBDF2, RNF157, RNF157-AS1, RNF213, RNF213-AS1, ROCR, RPL38, RPTOR, SAP30BP, SAP30BP-AS1, SCARNA16, SCAT1, SDK2, SEC14L1, SECTM1, SEPTIN9, SEPTIN9-DT, SGSH, SIRT7, SLC16A3, SLC16A5, SLC25A10, SLC25A19, SLC26A11, SLC38A10, SLC39A11, SLC9A3R1-AS1, SMIM5, SMIM6, SNHG16, SNHG20, SNORD134, SNORD1A, SNORD1B, SNORD1C, SOCS3, SOCS3-DT, SOX9, SOX9-AS1, SOX9CRE1, SPHK1, SRP68, SRSF2, SSTR2, ST6GALNAC1, ST6GALNAC2, SUMO2, SYNGR2, TBC1D16, TBCD, TEN1, TEN1-CDK3, TEPSIN, TEX19, TIMP2, TK1, TMC6, TMC8, TMEM104, TMEM105, TMEM235, TMEM94, TNRC6C, TRIM47, TRIM65, TRR-CCT1-1, TRR-CCT2-1, TRR-TCG3-1, TRX-CAT1-8, TSEN54, TSPAN10, TTYH2, UBALD2, UBE2O, UNC13D, UNK, USH1G, USP36, UTS2R, VCF1, WBP2, WDR45B, ZACN, ZNF750
See casesPathogenic
(Oct 23, 2012)
no assertion criteria provided
3.
GRCh37:
Chr17:76088317-81044553
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
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 casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
7.
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 casesLikely pathogenic
(Aug 19, 2013)
no assertion criteria provided
8.
GRCh37:
Chr17:79670122
GRCh38:
Chr17:81703092
MRPL12not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr17:79670273
GRCh38:
Chr17:81703243
MRPL12not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr17:79670386
GRCh38:
Chr17:81703356
MRPL12not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr17:79670486
GRCh38:
Chr17:81703456
MRPL12not specifiedLikely benign
(Jan 22, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr17:79670502
GRCh38:
Chr17:81703472
MRPL12not specifiedLikely benign
(Oct 7, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr17:79670538
GRCh38:
Chr17:81703508
MRPL12P3Snot providedLikely benign
(Nov 3, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr17:79670566
GRCh38:
Chr17:81703536
MRPL12P12Rnot provided, Inborn genetic diseasesUncertain significance
(Feb 28, 2023)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr17:79670575
GRCh38:
Chr17:81703545
MRPL12G15Enot providedBenign
(Nov 1, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr17:79670604
GRCh38:
Chr17:81703574
MRPL12R25Gnot providedUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr17:79670642
GRCh38:
Chr17:81703612
MRPL12not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr17:79670696
GRCh38:
Chr17:81703666
MRPL12not providedBenign
(Jun 28, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr17:79671154
GRCh38:
Chr17:81704124
MRPL12not providedLikely benign
(Jul 17, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr17:79671208
GRCh38:
Chr17:81704178
MRPL12not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr17:79671259-79671261
GRCh38:
Chr17:81704229-81704231
MRPL12not providedBenign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr17:79671268
GRCh38:
Chr17:81704238
MRPL12not specifiedLikely benign
(Mar 25, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr17:79671275
GRCh38:
Chr17:81704245
MRPL12not providedLikely benign
(Sep 9, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr17:79671276
GRCh38:
Chr17:81704246
MRPL12R26Qnot provided, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr17:79671280
GRCh38:
Chr17:81704250
MRPL12Q27Hnot providedUncertain significance
(May 21, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr17:79671286
GRCh38:
Chr17:81704256
MRPL12not specifiedLikely benign
(May 22, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr17:79671287
GRCh38:
Chr17:81704257
MRPL12C30Rnot providedUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr17:79671296
GRCh38:
Chr17:81704266
MRPL12A33Tnot providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr17:79671298
GRCh38:
Chr17:81704268
MRPL12not specified, not providedBenign/Likely benign
(Feb 1, 2023)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr17:79671302
GRCh38:
Chr17:81704272
MRPL12R35GInborn genetic diseasesUncertain significance
(Dec 7, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr17:79671332
GRCh38:
Chr17:81704302
MRPL12C45Rnot specified, not providedBenign/Likely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr17:79671384
GRCh38:
Chr17:81704354
MRPL12P62RInborn genetic diseasesUncertain significance
(Jun 21, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr17:79671384
GRCh38:
Chr17:81704354
MRPL12P62Hnot providedUncertain significance
(Feb 6, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr17:79671426
GRCh38:
Chr17:81704396
MRPL12L76Pnot providedUncertain significance
(Jul 17, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr17:79671455
GRCh38:
Chr17:81704425
MRPL12not providedLikely benign
(Sep 6, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr17:79671464
GRCh38:
Chr17:81704434
MRPL12not specifiedLikely benign
(Feb 7, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr17:79671465
GRCh38:
Chr17:81704435
MRPL12not specifiedLikely benign
(Apr 13, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr17:79671469
GRCh38:
Chr17:81704439
MRPL12not providedLikely benign
(Sep 19, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr17:79671478
GRCh38:
Chr17:81704448
MRPL12not specified, not providedLikely benign
(Aug 1, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr17:79671630
GRCh38:
Chr17:81704600
MRPL12not providedLikely benign
(Jan 16, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr17:79671653
GRCh38:
Chr17:81704623
MRPL12not providedLikely benign
(Sep 23, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr17:79671686
GRCh38:
Chr17:81704656
MRPL12not providedLikely benign
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr17:79671690
GRCh38:
Chr17:81704660
MRPL12L97FInborn genetic diseasesUncertain significance
(May 31, 2023)
criteria provided, single submitter
44.
GRCh37:
Chr17:79671714
GRCh38:
Chr17:81704684
MRPL12S105Pnot provided, not specifiedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr17:79671726-79671727
GRCh38:
Chr17:81704696-81704697
MRPL12not providedUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr17:79671727
GRCh38:
Chr17:81704697
MRPL12P109Lnot providedUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr17:79673809
GRCh38:
Chr17:81706779
MRPL12not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr17:79673916-79673918
GRCh38:
Chr17:81706886-81706888
MRPL12not providedBenign
(Jul 19, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr17:79673919
GRCh38:
Chr17:81706889
MRPL12not providedLikely benign
(Sep 30, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr17:79673938
GRCh38:
Chr17:81706908
MRPL12not providedUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr17:79673962
GRCh38:
Chr17:81706932
MRPL12not providedLikely benign
(Jan 1, 2023)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr17:79673967
GRCh38:
Chr17:81706937
MRPL12E126GInborn genetic diseasesUncertain significance
(Jun 6, 2023)
criteria provided, single submitter
53.
GRCh37:
Chr17:79673969
GRCh38:
Chr17:81706939
MRPL12R127Wnot providedUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr17:79673970
GRCh38:
Chr17:81706940
MRPL12R127Qnot providedUncertain significance
(Aug 30, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr17:79673974
GRCh38:
Chr17:81706944
MRPL12not providedLikely benign
(Aug 7, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr17:79673984
GRCh38:
Chr17:81706954
MRPL12V132Inot providedUncertain significance
(May 7, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr17:79673989
GRCh38:
Chr17:81706959
MRPL12not providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr17:79674001
GRCh38:
Chr17:81706971
MRPL12not providedLikely benign
(Jun 7, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr17:79674035
GRCh38:
Chr17:81707005
MRPL12I149Vnot providedUncertain significance
(Jul 9, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr17:79674043
GRCh38:
Chr17:81707013
MRPL12not providedLikely benign
(Apr 28, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr17:79674045
GRCh38:
Chr17:81707015
MRPL12Y152CInborn genetic diseasesUncertain significance
(Oct 27, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr17:79674055
GRCh38:
Chr17:81707025
MRPL12not providedLikely benign
(Jul 11, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr17:79674069
GRCh38:
Chr17:81707039
MRPL12Q160RInborn genetic diseasesUncertain significance
(Feb 28, 2023)
criteria provided, single submitter
64.
GRCh37:
Chr17:79674081
GRCh38:
Chr17:81707051
MRPL12not providedLikely benign
(Aug 19, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr17:79674094
GRCh38:
Chr17:81707064
MRPL12not providedBenign
(Jul 7, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr17:79674106
GRCh38:
Chr17:81707076
MRPL12not providedLikely benign
(Jul 31, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr17:79674141-79674142
GRCh38:
Chr17:81707111-81707112
MRPL12not specifiedLikely benign
(May 5, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr17:79674170
GRCh38:
Chr17:81707140
MRPL12E166Gnot providedUncertain significance
(Sep 23, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr17:79674201
GRCh38:
Chr17:81707171
MRPL12not specified, not providedLikely benign
(Jun 15, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr17:79674215
GRCh38:
Chr17:81707185
MRPL12A181VCombined oxidative phosphorylation deficiency 45Pathogenic
(Jul 28, 2020)
no assertion criteria provided
71.
GRCh37:
Chr17:79674230
GRCh38:
Chr17:81707200
MRPL12A186Vnot providedUncertain significance
(Oct 10, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr17:79674249
GRCh38:
Chr17:81707219
MRPL12not providedLikely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr17:79674253
GRCh38:
Chr17:81707223
MRPL12T194Anot provided, Inborn genetic diseasesUncertain significance
(Oct 10, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr17:79674256
GRCh38:
Chr17:81707226
MRPL12V195Mnot providedUncertain significance
(Mar 17, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr17:79674280
GRCh38:
Chr17:81707250
MRPL12not providedLikely benign
(Apr 16, 2019)
criteria provided, single submitter
76.
GRCh37:
Chr17:79674301-79674302
GRCh38:
Chr17:81707271-81707272
MRPL12not providedBenign
(Jan 23, 2020)
criteria provided, single submitter
77.
GRCh37:
Chr17:79674375
GRCh38:
Chr17:81707345
MRPL12not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr17:79674395
GRCh38:
Chr17:81707365
MRPL12not providedLikely benign
(Sep 17, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr17:79539041-81052322
See casesPathogenic
(Jan 29, 2020)
criteria provided, single submitter
80.
GRCh37:
Chr17:79618104-79894690
not providedUncertain significance
(Jan 22, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr17:79477716-80900339
not providedUncertain significance
(Feb 15, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr17:79618104-79674270
ARL16, CCDC137, HGS, MRPL12, OXLD1, PDE6Gnot providedPathogenic
(Aug 2, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr17:73481509-81043199
not providedPathogenic
(Jul 1, 2022)
criteria provided, single submitter
84.
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 providedPathogenic
(May 26, 2017)
no assertion criteria provided
85.
GRCh37:
Chr17:78608912-81041938
not providedPathogenic
(Sep 18, 2017)
no assertion criteria provided
86.
GRCh37:
Chr17:79496613-79693150
not providedUncertain significance
(Jul 20, 2018)
no assertion criteria provided
87.
GRCh37:
Chr17:79663313-80197463
not providedUncertain significance
(Sep 27, 2018)
no assertion criteria provided
88.
GRCh37:
Chr17:79531886-79685043
ARL16, CCDC137, HGS, MRPL12, NPLOC4, OXLD1, PDE6G, SLC25A10, TSPAN10not providedUncertain significance
(May 31, 2017)
no assertion criteria provided
89.
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,