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Items: 1 to 100 of 499

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:
Chr17:79477432
GRCh38:
Chr17:81510406
ACTG1not providedBenign
(Jun 26, 2018)		criteria provided, single submitter
9.
GRCh37:
Chr17:79477457
GRCh38:
Chr17:81510431
ACTG1not providedLikely benign
(Dec 7, 2019)		criteria provided, single submitter
10.
GRCh37:
Chr17:79477489
GRCh38:
Chr17:81510463
ACTG1not providedLikely benign
(Jul 15, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr17:79477517
GRCh38:
Chr17:81510491
ACTG1not providedBenign
(Jan 29, 2020)		criteria provided, single submitter
12.
GRCh37:
Chr17:79477522
GRCh38:
Chr17:81510496
ACTG1not providedLikely benign
(Jun 4, 2020)		criteria provided, single submitter
13.
GRCh37:
Chr17:79477524
GRCh38:
Chr17:81510498
ACTG1not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr17:79477570
GRCh38:
Chr17:81510544
ACTG1not providedBenign
(Jan 6, 2020)		criteria provided, single submitter
15.
GRCh37:
Chr17:79477573
GRCh38:
Chr17:81510547
ACTG1not providedBenign
(Jan 6, 2020)		criteria provided, single submitter
16.
GRCh37:
Chr17:79477582
GRCh38:
Chr17:81510556
ACTG1not providedLikely benign
(Aug 3, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr17:79477586
GRCh38:
Chr17:81510560
ACTG1not providedLikely benign
(Feb 17, 2021)		criteria provided, single submitter
18.
GRCh37:
Chr17:79477588
GRCh38:
Chr17:81510562
ACTG1not providedBenign
(Feb 13, 2020)		criteria provided, single submitter
19.
GRCh37:
Chr17:79477590
GRCh38:
Chr17:81510564
ACTG1not providedBenign
(Jan 29, 2020)		criteria provided, single submitter
20.
GRCh37:
Chr17:79477604
GRCh38:
Chr17:81510578
ACTG1not providedLikely benign
(Jun 28, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr17:79477684
GRCh38:
Chr17:81510658
ACTG1not providedBenign
(Jan 22, 2020)		criteria provided, single submitter
22.
GRCh37:
Chr17:79477698
GRCh38:
Chr17:81510672
ACTG1not specifiedLikely benign
(Sep 6, 2016)		criteria provided, single submitter
23.
GRCh37:
Chr17:79477705
GRCh38:
Chr17:81510679
ACTG1not specifiedUncertain significance
(Nov 5, 2015)		criteria provided, single submitter
24.
GRCh37:
Chr17:79477710
GRCh38:
Chr17:81510684
ACTG1not providedLikely benign
(Aug 5, 2020)		criteria provided, single submitter
25.
GRCh37:
Chr17:79477714
GRCh38:
Chr17:81510688
ACTG1not providedBenign
(Feb 25, 2020)		criteria provided, single submitter
26.
GRCh37:
Chr17:79477716
GRCh38:
Chr17:81510690
ACTG1Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, not specified,
not provided, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr17:79477722
GRCh38:
Chr17:81510696
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Likely benign
(Aug 22, 2022)		criteria provided, single submitter
28.
GRCh37:
Chr17:79477731
GRCh38:
Chr17:81510705
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20,
not specified, not provided, Baraitser-winter syndrome 2
Benign
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr17:79477734
GRCh38:
Chr17:81510708
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Likely benign
(Oct 24, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr17:79477734
GRCh38:
Chr17:81510708
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not specified
Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr17:79477735
GRCh38:
Chr17:81510709
ACTG1V370AAutosomal dominant nonsyndromic hearing loss 20Pathogenic
(Oct 1, 2006)		no assertion criteria provided
32.
GRCh37:
Chr17:79477737
GRCh38:
Chr17:81510711
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not provided
Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr17:79477740
GRCh38:
Chr17:81510714
ACTG1not providedLikely benign
(May 8, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr17:79477741
GRCh38:
Chr17:81510715
ACTG1S368FBaraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
35.
GRCh37:
Chr17:79477743
GRCh38:
Chr17:81510717
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Likely benign
(Nov 14, 2021)		criteria provided, single submitter
36.
GRCh37:
Chr17:79477746
GRCh38:
Chr17:81510720
ACTG1Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20Likely benign
(Mar 29, 2022)		criteria provided, single submitter
37.
GRCh37:
Chr17:79477749
GRCh38:
Chr17:81510723
ACTG1not provided, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
Conflicting interpretations of pathogenicity
(Jan 4, 2021)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr17:79477753-79477755
GRCh38:
Chr17:81510727-81510729
ACTG1D363delnot providedUncertain significance
(Mar 28, 2022)		criteria provided, single submitter
39.
GRCh37:
Chr17:79477755
GRCh38:
Chr17:81510729
ACTG1not providedLikely benign
(Jun 1, 2023)		criteria provided, single submitter
40.
GRCh37:
Chr17:79477758
GRCh38:
Chr17:81510732
ACTG1not provided, not specifiedLikely benign
(May 16, 2018)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr17:79477780
GRCh38:
Chr17:81510754
ACTG1M355RAutosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Uncertain significance
(Jun 13, 2022)		criteria provided, single submitter
42.
GRCh37:
Chr17:79477788
GRCh38:
Chr17:81510762
ACTG1Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20Likely benign
(May 27, 2021)		criteria provided, single submitter
43.
GRCh37:
Chr17:79477791
GRCh38:
Chr17:81510765
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Likely benign
(Sep 9, 2021)		criteria provided, single submitter
44.
GRCh37:
Chr17:79477791
GRCh38:
Chr17:81510765
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not provided
Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr17:79477793
GRCh38:
Chr17:81510767
ACTG1T351Anot providedUncertain significance
(Jun 30, 2020)		criteria provided, single submitter
46.
GRCh37:
Chr17:79477793
GRCh38:
Chr17:81510767
ACTG1T351Pnot specifiedUncertain significance
(Dec 24, 2014)		criteria provided, single submitter
47.
GRCh37:
Chr17:79477794
GRCh38:
Chr17:81510768
ACTG1Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20Likely benign
(Nov 1, 2022)		criteria provided, single submitter
48.
GRCh37:
Chr17:79477800
GRCh38:
Chr17:81510774
ACTG1Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20Likely benign
(May 13, 2022)		criteria provided, single submitter
49.
GRCh37:
Chr17:79477803
GRCh38:
Chr17:81510777
ACTG1not specifiedLikely benign
(Aug 23, 2017)		criteria provided, single submitter
50.
GRCh37:
Chr17:79477805
GRCh38:
Chr17:81510779
ACTG1A347Snot specifiedUncertain significance
(Dec 16, 2015)		criteria provided, single submitter
51.
GRCh37:
Chr17:79477808
GRCh38:
Chr17:81510782
ACTG1Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20Likely benign
(Jul 24, 2019)		criteria provided, single submitter
52.
GRCh37:
Chr17:79477808
GRCh38:
Chr17:81510782
ACTG1L346Vnot specified, not providedConflicting interpretations of pathogenicity
(Aug 25, 2023)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr17:79477815
GRCh38:
Chr17:81510789
ACTG1not specified, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20,
not provided, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr17:79477818
GRCh38:
Chr17:81510792
ACTG1Autosomal dominant nonsyndromic hearing loss 20, not specified, not provided,
Baraitser-winter syndrome 2, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr17:79477821
GRCh38:
Chr17:81510795
ACTG1not providedLikely benign
(Apr 15, 2020)		criteria provided, single submitter
56.
GRCh37:
Chr17:79477827
GRCh38:
Chr17:81510801
ACTG1Baraitser-winter syndrome 2, not specified, not provided,
Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
Benign
(Oct 11, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr17:79477830
GRCh38:
Chr17:81510804
ACTG1Autosomal dominant nonsyndromic hearing loss 20, not provided, Baraitser-winter syndrome 2,
Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, not specified
Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr17:79477831
GRCh38:
Chr17:81510805
ACTG1S338WAutosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Likely pathogenic
(Sep 17, 2021)		criteria provided, single submitter
59.
GRCh37:
Chr17:79477831
GRCh38:
Chr17:81510805
ACTG1S338Lnot provided, Autosomal dominant nonsyndromic hearing loss 20Uncertain significance
(Mar 17, 2020)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr17:79477836
GRCh38:
Chr17:81510810
ACTG1Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20Likely benign
(Jul 24, 2021)		criteria provided, single submitter
61.
GRCh37:
Chr17:79477840
GRCh38:
Chr17:81510814
ACTG1R335HInborn genetic diseases, Neurodevelopmental delay, Baraitser-winter syndrome 2
Pathogenic/Likely pathogenic
(Mar 7, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr17:79477841
GRCh38:
Chr17:81510815
ACTG1R335Cnot provided, Autosomal dominant nonsyndromic hearing loss 20Conflicting interpretations of pathogenicity
(Apr 20, 2023)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr17:79477842
GRCh38:
Chr17:81510816
ACTG1E334DRare genetic deafnessLikely pathogenic
(May 23, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr17:79477844
GRCh38:
Chr17:81510818
ACTG1E334QBaraitser-winter syndrome 2Uncertain significance
(Jul 26, 2019)		criteria provided, single submitter
65.
GRCh37:
Chr17:79477846
GRCh38:
Chr17:81510820
ACTG1P333Rnot provided, ACTG1-related conditionConflicting interpretations of pathogenicity
(Oct 13, 2023)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr17:79477848
GRCh38:
Chr17:81510822
ACTG1not specified, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2,
not provided		Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr17:79477850
GRCh38:
Chr17:81510824
ACTG1P332AAutosomal dominant nonsyndromic hearing loss 20Pathogenic
(Nov 1, 2003)		no assertion criteria provided
68.
GRCh37:
Chr17:79477853
GRCh38:
Chr17:81510827
ACTG1A331Tnot providedUncertain significance
(Apr 7, 2021)		criteria provided, single submitter
69.
GRCh37:
Chr17:79477854
GRCh38:
Chr17:81510828
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Likely benign
(May 25, 2022)		criteria provided, single submitter
70.
GRCh37:
Chr17:79477866
GRCh38:
Chr17:81510837-81510838
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not specified,
not provided		Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr17:79477864
GRCh38:
Chr17:81510838
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not specified,
not provided, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
Benign/Likely benign
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr17:79477868
GRCh38:
Chr17:81510842
ACTG1ACTG1-related conditionUncertain significance
(Jun 6, 2023)		criteria provided, single submitter
73.
GRCh37:
Chr17:79477868-79477869
GRCh38:
Chr17:81510842-81510843
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Likely benign
(Jan 4, 2022)		criteria provided, single submitter
74.
GRCh37:
Chr17:79477870
GRCh38:
Chr17:81510844
ACTG1not specifiedLikely benign
(Feb 26, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr17:79477879
GRCh38:
Chr17:81510853
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Likely benign
(Nov 1, 2022)		criteria provided, single submitter
76.
GRCh37:
Chr17:79477891
GRCh38:
Chr17:81510865
ACTG1not providedBenign
(Jun 13, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr17:79477897
GRCh38:
Chr17:81510871
ACTG1not providedBenign
(Nov 26, 2019)		criteria provided, single submitter
78.
GRCh37:
Chr17:79477899
GRCh38:
Chr17:81510873
ACTG1not provided, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr17:79477933
GRCh38:
Chr17:81510907
ACTG1Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20Likely benign
(Nov 25, 2021)		criteria provided, single submitter
80.
GRCh37:
Chr17:79477939-79477940
GRCh38:
Chr17:81510913-81510914
ACTG1not providedLikely benign
(Jul 20, 2016)		criteria provided, single submitter
81.
GRCh37:
Chr17:79477941
GRCh38:
Chr17:81510915
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Likely benign
(Sep 15, 2022)		criteria provided, single submitter
82.
GRCh37:
Chr17:79477945
GRCh38:
Chr17:81510919
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Likely benign
(Mar 15, 2022)		criteria provided, single submitter
83.
GRCh37:
Chr17:79477946
GRCh38:
Chr17:81510920
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Likely benign
(Jan 28, 2022)		criteria provided, single submitter
84.
GRCh37:
Chr17:79477946
GRCh38:
Chr17:81510920
ACTG1Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, not provided
Likely benign
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr17:79477956
GRCh38:
Chr17:81510930
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Likely benign
(Sep 2, 2021)		criteria provided, single submitter
86.
GRCh37:
Chr17:79477956
GRCh38:
Chr17:81510930
ACTG1not providedLikely benign
(Jan 8, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr17:79477959
GRCh38:
Chr17:81510933
ACTG1Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2,
not provided, Autosomal dominant nonsyndromic hearing loss 20		Benign/Likely benign
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr17:79477974
GRCh38:
Chr17:81510948
ACTG1not specifiedLikely benign
(Feb 2, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr17:79477980
GRCh38:
Chr17:81510954
ACTG1not specifiedLikely benign
(Apr 30, 2012)		criteria provided, single submitter
90.
GRCh37:
Chr17:79477983
GRCh38:
Chr17:81510957
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not provided,
not specified, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
Benign/Likely benign
(Dec 5, 2021)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr17:79477992
GRCh38:
Chr17:81510966
ACTG1not specified, not providedLikely benign
(May 5, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr17:79477994
GRCh38:
Chr17:81510968
ACTG1K315EAutosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Uncertain significance
(Feb 28, 2022)		criteria provided, single submitter
93.
GRCh37:
Chr17:79477996
GRCh38:
Chr17:81510970
ACTG1Q314RAutosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Uncertain significance
(Sep 16, 2022)		criteria provided, single submitter
94.
GRCh37:
Chr17:79477997
GRCh38:
Chr17:81510971
ACTG1Q314Enot providedUncertain significance
(Jan 30, 2020)		criteria provided, single submitter
95.
GRCh37:
Chr17:79478001
GRCh38:
Chr17:81510975
ACTG1not provided, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
Likely benign
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr17:79478004
GRCh38:
Chr17:81510978
ACTG1Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20Likely benign
(Sep 7, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr17:79478005
GRCh38:
Chr17:81510979
ACTG1D311Vnot providedUncertain significance
(Mar 27, 2023)		criteria provided, single submitter
98.
GRCh37:
Chr17:79478007
GRCh38:
Chr17:81510981
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not specified,
Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20		Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr17:79478013
GRCh38:
Chr17:81510987
ACTG1not providedLikely benign
(Jan 6, 2020)		criteria provided, single submitter
100.
GRCh37:
Chr17:79478016
GRCh38:
Chr17:81510990
ACTG1Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2Likely benign
(Sep 13, 2022)		criteria provided, single submitter
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