| - GRCh37:
- Chr17:57595736-73049225
- GRCh38:
- Chr17:36449220-75053130
| ABCA10, ADAM11, AMZ2, ANKFN1, AKAP1, AKAP1-DT, ACACA, ACBD4, ACE, ABCA9-AS1, ABCC3, ABI3, AOC3, APOH, ANKRD40, ANKRD40CL, AOC2, ABCA5, ABCA6, ACLY, ACSF2, PPM1D, PPM1E, PPP1R1B, PPP1R9B, ABCA8, ABCA9, AARSD1, AATF, APPBP2, APPBP2-DT, ARHGAP23, ARHGAP27, ARL17A, ARL17B, ARL4D, ARL5C, ARSG, ASB16, ASB16-AS1, ATP5MC1, ATP5PD, ATP6V0A1, ATXN7L3, ATXN7L3-AS1, AXIN2, B4GALNT2, BCAS3, BCAS3-AS1, BECN1, BPTF, BRCA1, BRIP1, BTBD17, C17orf113, C17orf47, C17orf58, C17orf67, C17orf78, C1QL1, CA10, CA4, CACNA1G, CACNA1G-AS1, CACNB1, CACNG1, CACNG4, CACNG5, CALCOCO2, CASC17, CASC3, CAVIN1, CBX1, CCDC103, CCDC182, CCDC200, CCDC43, CCDC47, CCR10, CCR7, CD300A, CD300C, CD300E, CD300H, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD300LG, CD79B, CDC27, CDC42EP4, CDC6, CDK12, CDK5RAP3, CDR2L, CEP112, CEP95, CFAP97D1, CHAD, CHCT1, CISD3, CLTC, CNP, CNTD1, CNTNAP1, COA3, COASY, COG1, COIL, COL1A1, COPZ2, COX11, CPSF4L, CRHR1, CSF3, CSH1, CSH2, CSHL1, CUEDC1, CWC25, CYB561, DBF4B, DCAF7, DCAKD, DDX42, DDX5, DDX52, DGKE, DHRS11, DHX40, DHX58, DHX8, DLX3, DLX4, DNAI2, DNAJC7, DUSP14, DUSP3, DYNLL2, DYNLL2-DT, EFCAB13, EFCAB13-DT, EFCAB3, EFTUD2, EIF1, EME1, EPN3, EPOP, EPX, ERBB2, ERN1, ETV4, EZH1, FADS6, FAM117A, FAM171A2, FAM187A, FAM20A, FAM215A, FAM215B, FBXL20, FBXO47, FDXR, FKBP10, FLJ40194, FLJ45513, FMNL1, FMNL1-AS1, FMNL1-DT, FTSJ3, FZD2, G6PC1, G6PC3, GAST, GDPD1, GFAP, GGNBP2, GH-LCR, GH1, GH2, GHDC, GIP, GJC1, GJD3, GJD3-AS1, GNA13, GNGT2, GOSR2, GOSR2-DT, GPATCH8, GPR142, GPR179, GPRC5C, GRB7, GRIN2C, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEATR6, HEATR6-DT, HELZ, HELZ-AS1, HEXIM1, HEXIM2, HEXIM2-AS1, HID1, HID1-AS1, HIGD1B, HLF, HNF1B, HOXB-AS1, HOXB-AS2, HOXB-AS3, HOXB-AS4, HOXB1, HOXB13, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HOXBLINC, HROB, HSD17B1, HSD17B1-AS1, HSF5, HSPB9, ICAM2, IFI35, IGBP1C, IGF2BP1, IGFBP4, IKZF3, INTS2, ITGA2B, ITGA3, ITGB3, JUP, KANSL1, KANSL1-AS1, KAT2A, KAT7, KCNH4, KCNH6, KCNJ16, KCNJ2, KCNJ2-AS1, KCTD2, KIF18B, KIF19, KIF2B, KLHL10, KLHL11, KPNA2, KPNB1, KPNB1-DT, 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, KRTAP29-1, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-12, KRTAP4-16, 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, LASP1, LASP1NB, LHX1, LHX1-DT, LIMD2, LINC00469, LINC00511, LINC00671, LINC00673, LINC00674, LINC00910, LINC00974, LINC01028, LINC01152, LINC01180, LINC01476, LINC01482, LINC01483, LINC01497, LINC01969, LINC01974, LINC01976, LINC01982, LINC01999, LINC02003, LINC02071, LINC02072, LINC02073, LINC02074, LINC02075, LINC02079, LINC02086, LINC02089, LINC02092, LINC02097, LINC02210, LINC02210-CRHR1, LINC02563, LINC02594, LINC02875, LINC02876, LINC03057, LOC100134391, LOC100287808, LOC100505782, LOC100507002, LOC100996660, LOC101927166, LOC101927539, LOC101927557, LOC101927855, LOC101928045, LOC101928251, LOC101928343, LOC101929767, LOC102723517, LOC102724183, LOC105371756, LOC105371763, LOC105371767, LOC105371773, LOC105371789, LOC105371795, LOC105371814, LOC105371824, LOC105371855, LOC105371856, LOC105371880, LOC105371934, LOC105980078, LOC106677019, LOC106694315, LOC106694316, LOC108004529, LOC108004536, LOC108004545, LOC108004546, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021839, LOC108021840, LOC108021842, LOC108021843, LOC108021844, LOC108021845, LOC108021846, LOC108281137, LOC109280161, LOC109286563, LOC109609706, LOC110120862, LOC110120863, LOC110120913, LOC110120923, LOC110120932, LOC110121373, LOC110121386, LOC110121446, LOC110121451, LOC110121475, LOC110121501, LOC110485084, LOC110485085, LOC111089947, LOC111240475, LOC111465016, LOC111589213, LOC111589215, LOC111589216, LOC111822952, LOC112529910, LOC112529911, LOC112529912, LOC112529913, LOC112529914, LOC112533637, LOC112533638, LOC112533639, LOC112533640, LOC112533641, LOC112533642, LOC112533643, LOC112533644, LOC112533645, LOC112533646, LOC112533647, LOC112533648, LOC112533649, LOC112533650, LOC112533651, LOC112533652, LOC112533653, LOC112533654, LOC112533655, LOC112533658, LOC112533659, LOC112533660, LOC112533661, LOC112533662, LOC112533663, LOC112533666, LOC112533667, LOC112533668, LOC112533669, LOC113939962, LOC113939963, LOC114803472, LOC114827848, LOC116276460, LOC116276461, LOC116276462, LOC116276463, LOC116276464, LOC116276465, LOC116276466, LOC116276467, LOC116276468, LOC116276469, LOC116276470, LOC116276471, LOC116276472, LOC116276473, LOC116276474, LOC116276475, LOC116276476, LOC116276477, LOC116276478, LOC116276479, LOC120285839, LOC121587588, LOC121587589, LOC121587590, LOC121587591, LOC121587592, LOC121587593, LOC121587594, LOC121587595, LOC121587596, LOC121587597, LOC121587598, LOC121587599, LOC121587600, LOC121587601, LOC121587602, LOC121587603, LOC121587604, LOC121587605, LOC121603768, LOC121603769, LOC121603770, LOC121603771, LOC121603772, LOC121603773, LOC121627807, LOC121627808, LOC121852931, LOC121852932, LOC121852933, LOC121852934, LOC121852935, LOC121852936, LOC121852937, LOC121852938, LOC121852939, LOC121852940, LOC121852941, LOC121852942, LOC121852943, LOC121852944, LOC121852945, LOC121852946, LOC121852947, LOC121852948, LOC121852949, LOC121852950, LOC125177462, LOC125177463, LOC125177464, LOC125177465, LOC125177466, LOC125177467, LOC125177469, LOC125177470, LOC125177471, LOC125177472, LOC125177473, LOC125177474, LOC125177475, LOC125177476, LOC125177477, LOC125177478, LOC125177479, LOC125177480, LOC125177481, LOC125177482, LOC125177484, LOC125177485, LOC125177486, LOC125177487, LOC125177488, LOC125177489, LOC125177490, LOC125177491, LOC125177492, LOC125177493, LOC125177494, LOC125177495, LOC125177496, LOC125177497, LOC125177498, LOC125177500, LOC125177501, LOC125177502, LOC125177503, LOC125177504, LOC125177505, LOC125177507, LOC125177508, LOC125177509, LOC125177510, LOC125177512, LOC125177513, LOC125177514, LOC125177515, LOC125177516, LOC125177517, LOC125177518, LOC125177519, LOC125177520, LOC125177521, LOC125177522, LOC125177523, LOC125177524, LOC125177525, LOC125177526, LOC125177527, LOC125312415, LOC125312416, LOC125312417, LOC125312418, LOC125312419, LOC125312420, LOC125316770, LOC125316771, LOC125316772, LOC125316773, LOC125316774, LOC125316775, LOC125316776, LOC125316777, LOC125316778, LOC125316779, LOC125316780, LOC125316781, LOC125316782, LOC125316783, LOC125316784, LOC125316785, LOC125316786, LOC125316787, LOC125316788, LOC125316789, LOC125316790, LOC125316791, LOC125316792, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC126862550, LOC126862551, LOC126862552, LOC126862553, LOC126862554, LOC126862555, LOC126862556, LOC126862557, LOC126862558, LOC126862559, LOC126862560, LOC126862561, LOC126862562, LOC126862563, LOC126862564, LOC126862565, LOC126862566, LOC126862567, LOC126862568, LOC126862569, LOC126862570, LOC126862571, LOC126862572, LOC126862573, LOC126862574, LOC126862575, LOC126862576, LOC126862577, LOC126862578, LOC126862579, LOC126862580, LOC126862581, LOC126862582, LOC126862583, LOC126862584, LOC126862585, LOC126862586, LOC126862587, LOC126862588, LOC126862589, LOC126862590, LOC126862591, LOC126862592, LOC126862593, LOC126862594, LOC126862595, LOC126862596, LOC126862597, LOC126862598, LOC126862599, LOC126862600, LOC126862601, LOC126862602, LOC126862603, LOC126862604, LOC126862605, LOC126862606, LOC126862607, LOC126862608, LOC126862609, LOC126862610, LOC126862611, LOC126862612, LOC126862613, LOC126862614, LOC126862615, LOC126862616, LOC126862617, LOC126862618, LOC126862619, LOC126862620, MIR548AA2, MIR548AT, MIR548BC, MIR548D2, MIR6080, MIR6129, MIR6165, MIR633, MIR634, MIR635, MIR6510, MIR6779, MIR6780A, MIR6781, MIR6782, MIR6783, MIR6784, MIR6866, MIR6867, MIR6884, MIR8059, MKS1, MLLT6, MLX, MMD, MPO, MPP2, MPP3, MRC2, MRM1, MRPL10, MRPL27, MRPL45, MRPL58, MRPS23, MSI2, MSL1, MTMR4, MTNAP1, MYCBPAP, MYL4, MYO19, NACA2, NAGLU, NAGS, NAT9, NBR1, NBR2, NEUROD2, NFE2L1, NFE2L1-DT, NGFR, NGFR-AS1, NHERF1, NKIRAS2, NME1, NME1-NME2, NME2, NMT1, NOG, NOL11, NPEPPS, NR1D1, NSF, NT5C3B, NXPH3, ODAD4, OR4D1, OR4D2, ORMDL3, OSBPL7, OTOP2, OTOP3, P3H4, PCGF2, PCTP, PDK2, PECAM1, PGAP3, PHB1, PHOSPHO1, PICART1, PIGW, PIP4K2B, PITPNC1, PLCD3, PLEKHH3, PLEKHM1, PLXDC1, PNMT, PNPO, POLG2, PPY, PRAC1, PRAC2, PRKAR1A, PRKCA, PRKCA-AS1, PRO1804, PRR11, PRR15L, PRR29, PRR29-AS1, PSMB3, PSMC3IP, PSMC5, PSMD12, PSMD3, PSME3, PTGES3L, PTGES3L-AARSD1, PTRH2, PYY, RAB37, RAB5C, RAB5C-AS1, RAD51C, RAMP2, RAMP2-AS1, RAPGEFL1, RARA, RARA-AS1, RETREG3, REVSEX, RGS9, RND2, RNF43, RNFT1, RNFT1-DT, RNU2-1, ROCR, RPL19, RPL23, RPL27, RPL38, RPRML, RPS6KB1, RSAD1, RUNDC1, RUNDC3A, RUNDC3A-AS1, SAMD14, SCARNA20, SCN4A, SCPEP1, SCRN2, SDK2, SEPTIN4, SEPTIN4-AS1, SGCA, SKA2, SKAP1, SKAP1-AS2, SLC16A6, SLC25A39, SLC35B1, SLC39A11, SLC4A1, SLC9A3R1-AS1, SMARCD2, SMARCE1, SMG8, SMIM36, SMURF2, SNF8, SNHG25, SNORA21, SNORA21B, SNORA38B, SNORA50C, SNORA90, SNORD104, SNORD124, SNX11, SOCS7, SOST, SOX9, SOX9-AS1, SOX9CRE1, SP2, SP2-AS1, SP2-DT, SP6, SPAG9, SPATA20, SPATA32, SPMAP1, SPOP, SPPL2C, SRCIN1, SRSF1, SSTR2, STAC2, STARD3, STAT3, STAT5A, STAT5B, STH, STRADA, STXBP4, SUPT4H1, SYNRG, TAC4, TACO1, TADA2A, TANC2, TBC1D3, TBC1D3C, TBC1D3D, TBC1D3E, TBC1D3K, TBC1D3L, TBKBP1, TBX2, TBX2-AS1, TBX21, TBX4, TCAP, TEX14, TEX2, THRA, TLK2, TMEM100, TMEM101, TMEM104, TMEM106A, TMEM92, TMEM92-AS1, TMUB2, TNS4, TOB1, TOB1-AS1, TOM1L1, TOP2A, TRC-GCA14-1, TRC-GCA2-2, TRC-GCA2-3, TRC-GCA2-4, TRC-GCA4-1, TRIM25, TRIM37, TRN-GTT2-5, TRQ-TTG1-1, TRR-CCG2-1, TRR-CCT1-1, TRR-CCT2-1, TRR-TCG3-1, TRSUP-TTA1-1, TSPOAP1, TSPOAP1-AS1, TTLL6, TTYH2, TUBD1, TUBG1, TUBG2, UBE2Z, UBTF, USH1G, USP32, UTP18, VAT1, VCF1, VEZF1, VMP1, VPS25, WFIKKN2, WIPF2, WIPI1, WNK4, WNT3, WNT9B, XYLT2, YPEL2, ZNF385C, ZNF652, ZNF652-AS1, ZNHIT3, ZPBP2, LOC126862621, LOC126862622, LOC126862623, LOC126862624, LOC126862625, LOC126862626, LOC126862627, LOC126862628, LOC126862629, LOC126862630, LOC126862631, LOC126862632, LOC126862633, LOC126862634, LOC126862635, LOC126862636, LOC128669077, LOC128669078, LOC129390865, LOC129390866, LOC129390867, LOC129390868, LOC129390869, LOC129390870, LOC129390871, LOC129390872, LOC129390873, LOC129390874, LOC129390875, LOC129390876, LOC129390877, LOC129390878, LOC129390879, LOC129390880, LOC129390881, LOC129390882, LOC129390883, LOC129390884, LOC129390885, LOC129390886, LOC129390887, LOC129390888, LOC129390889, LOC129390890, LOC129390891, LOC129390892, LOC129390893, LOC129390894, LOC129390895, LOC129390896, LOC129390897, LOC129390898, LOC129390899, LOC129390900, LOC129390901, LOC129390902, LOC129390903, LOC129390904, LOC129390905, LOC129390906, LOC129390907, LOC129390908, LOC129390909, LOC129390910, LOC129390911, LOC129390912, LOC129390913, LOC129390914, LOC129390915, LOC129390916, LOC129390917, LOC129390918, LOC129390919, LOC129390920, LOC129390921, LOC129390922, LOC129390923, LOC129390924, LOC129390925, LOC129390926, LOC129390927, LOC129390928, LOC129390929, LOC129390930, LOC129390931, LOC129390932, LOC130060737, LOC130060738, LOC130060739, LOC130060740, LOC130060741, LOC130060742, LOC130060743, LOC130060744, LOC130060745, LOC130060746, LOC130060747, LOC130060748, LOC130060749, LOC130060750, LOC130060751, LOC130060752, LOC130060753, LOC130060754, LOC130060755, LOC130060756, LOC130060757, LOC130060758, LOC130060759, LOC130060760, LOC130060761, LOC130060762, LOC130060763, LOC130060764, LOC130060765, LOC130060766, LOC130060767, LOC130060768, LOC130060769, LOC130060770, LOC130060771, LOC130060772, LOC130060773, LOC130060774, LOC130060775, LOC130060776, LOC130060777, LOC130060778, LOC130060779, LOC130060780, LOC130060781, LOC130060782, LOC130060783, LOC130060784, LOC130060785, LOC130060786, LOC130060787, LOC130060788, LOC130060789, LOC130060790, LOC130060791, LOC130060792, LOC130060793, LOC130060794, LOC130060795, LOC130060796, LOC130060797, LOC130060798, LOC130060799, LOC130060800, LOC130060801, LOC130060802, LOC130060803, LOC130060804, LOC130060805, LOC130060806, LOC130060807, LOC130060808, LOC130060809, LOC130060810, LOC130060811, LOC130060812, LOC130060813, LOC130060814, LOC130060815, LOC130060816, LOC130060817, LOC130060818, LOC130060819, LOC130060820, LOC130060821, LOC130060822, LOC130060823, LOC130060824, LOC130060825, LOC130060826, LOC130060827, LOC130060828, LOC130060829, LOC130060830, LOC130060831, LOC130060832, LOC130060833, LOC130060834, LOC130060835, LOC130060836, LOC130060837, LOC130060838, LOC130060839, LOC130060840, LOC130060841, LOC130060842, LOC130060843, LOC130060844, LOC130060845, LOC130060846, LOC130060847, LOC130060848, LOC130060849, LOC130060850, LOC130060851, LOC130060852, LOC130060853, LOC130060854, LOC130060855, LOC130060856, LOC130060857, LOC130060858, LOC130060859, LOC130060860, LOC130060861, LOC130060862, LOC130060863, LOC130060864, LOC130060865, LOC130060866, LOC130060867, LOC130060868, LOC130060869, LOC130060870, LOC130060871, LOC130060872, LOC130060873, LOC130060874, LOC130060875, LOC130060876, LOC130060877, LOC130060878, LOC130060879, LOC130060880, LOC130060881, LOC130060882, LOC130060883, LOC130060884, LOC130060885, LOC130060886, LOC130060887, LOC130060888, LOC130060889, LOC130060890, LOC130060891, LOC130060892, LOC130060893, LOC130060894, LOC130060895, LOC130060896, LOC130060897, LOC130060898, LOC130060899, LOC130060900, LOC130060901, LOC130060902, LOC130060903, LOC130060904, LOC130060905, LOC130060906, LOC130060907, LOC130060908, LOC130060909, LOC130060910, LOC130060911, LOC130060912, LOC130060913, LOC130060914, LOC130060915, LOC130060916, LOC130060917, LOC130060918, LOC130060919, LOC130060920, LOC130060921, LOC130060922, LOC130060923, LOC130060924, LOC130060925, LOC130060926, LOC130060927, LOC130060928, LOC130060929, LOC130060930, LOC130060931, LOC130060932, LOC130060933, LOC130060934, LOC130060935, LOC130060936, LOC130060937, LOC130060938, LOC130060939, LOC130060940, LOC130060941, LOC130060942, LOC130060943, LOC130060944, LOC130060945, LOC130060946, LOC130060947, LOC130060948, LOC130060949, LOC130060950, LOC130060951, LOC130060952, LOC130060953, LOC130060954, LOC130060955, LOC130060956, LOC130060957, LOC130060958, LOC130060959, LOC130060960, LOC130060961, LOC130060962, LOC130060963, LOC130060964, LOC130060965, LOC130060966, LOC130060967, LOC130060968, LOC130060969, LOC130060970, LOC130060971, LOC130060972, LOC130060973, LOC130060974, LOC130060975, LOC130060976, LOC130060977, LOC130060978, LOC130060979, LOC130060980, LOC130060981, LOC130060982, LOC130060983, LOC130060984, LOC130060985, LOC130060986, LOC130060987, LOC130060988, LOC130060989, LOC130060990, LOC130060991, LOC130060992, LOC130060993, LOC130060994, LOC130060995, LOC130060996, LOC130060997, LOC130060998, LOC130060999, LOC130061000, LOC130061001, LOC130061002, LOC130061003, LOC130061004, LOC130061005, LOC130061006, LOC130061007, LOC130061008, LOC130061009, LOC130061010, LOC130061011, LOC130061012, LOC130061013, LOC130061014, LOC130061015, LOC130061016, LOC130061017, LOC130061018, LOC130061019, LOC130061020, LOC130061021, LOC130061022, LOC130061023, LOC130061024, LOC130061025, LOC130061026, LOC130061027, LOC130061028, LOC130061029, LOC130061030, LOC130061031, LOC130061032, LOC130061033, LOC130061034, LOC130061035, LOC130061036, LOC130061037, LOC130061038, LOC130061039, LOC130061040, LOC130061041, LOC130061042, LOC130061043, LOC130061044, LOC130061045, LOC130061046, LOC130061047, LOC130061048, LOC130061049, LOC130061050, LOC130061051, LOC130061052, LOC130061053, LOC130061054, LOC130061055, LOC130061056, LOC130061057, LOC130061058, LOC130061059, LOC130061060, LOC130061061, LOC130061062, LOC130061063, LOC130061064, LOC130061065, LOC130061066, LOC130061067, LOC130061068, LOC130061069, LOC130061070, LOC130061071, LOC130061072, LOC130061073, LOC130061074, LOC130061075, LOC130061076, LOC130061077, LOC130061078, LOC130061079, LOC130061080, LOC130061081, LOC130061082, LOC130061083, LOC130061084, LOC130061085, LOC130061086, LOC130061087, LOC130061088, LOC130061089, LOC130061090, LOC130061091, LOC130061092, LOC130061093, LOC130061094, LOC130061095, LOC130061096, LOC130061097, LOC130061098, LOC130061099, LOC130061100, LOC130061101, LOC130061102, LOC130061103, LOC130061104, LOC130061105, LOC130061106, LOC130061107, LOC130061108, LOC130061109, LOC130061110, LOC130061111, LOC130061112, LOC130061113, LOC130061114, LOC130061115, LOC130061116, LOC130061117, LOC130061118, LOC130061119, LOC130061120, LOC130061121, LOC130061122, LOC130061123, LOC130061124, LOC130061125, LOC130061126, LOC130061127, LOC130061128, LOC130061129, LOC130061130, LOC130061131, LOC130061132, LOC130061133, LOC130061134, LOC130061135, LOC130061136, LOC130061137, LOC130061138, LOC130061139, LOC130061140, LOC130061141, LOC130061142, LOC130061143, LOC130061144, LOC130061145, LOC130061146, LOC130061147, LOC130061148, LOC130061149, LOC130061150, LOC130061151, LOC130061152, LOC130061153, LOC130061154, LOC130061155, LOC130061156, LOC130061157, LOC130061158, LOC130061159, LOC130061160, LOC130061161, LOC130061162, LOC130061163, LOC130061164, LOC130061165, LOC130061166, LOC130061167, LOC130061168, LOC130061169, LOC130061170, LOC130061171, LOC130061172, LOC130061173, LOC130061174, LOC130061175, LOC130061176, LOC130061177, LOC130061178, LOC130061179, LOC130061180, LOC130061181, LOC130061182, LOC130061183, LOC130061184, LOC130061185, LOC130061186, LOC130061187, LOC130061188, LOC130061189, LOC130061190, LOC130061191, LOC130061192, LOC130061193, LOC130061194, LOC130061195, LOC130061196, LOC130061197, LOC130061198, LOC130061199, LOC130061200, LOC130061201, LOC130061202, LOC130061203, LOC130061204, LOC130061205, LOC130061206, LOC130061207, LOC130061208, LOC130061209, LOC130061210, LOC130061211, LOC130061212, LOC130061213, LOC130061214, LOC130061215, LOC130061216, LOC130061217, LOC130061218, LOC130061219, LOC130061220, LOC130061221, LOC130061222, LOC130061223, LOC130061224, LOC130061225, LOC130061226, LOC130061227, LOC130061228, LOC130061229, LOC130061230, LOC130061231, LOC130061232, LOC130061233, LOC130061234, LOC130061235, LOC130061236, LOC130061237, LOC130061238, LOC130061239, LOC130061240, LOC130061241, LOC130061242, LOC130061243, LOC130061244, LOC130061245, LOC130061246, LOC130061247, LOC130061248, LOC130061249, LOC130061250, LOC130061251, LOC130061252, LOC130061253, LOC130061254, LOC130061255, LOC130061256, LOC130061257, LOC130061258, LOC130061259, LOC130061260, LOC130061261, LOC130061262, LOC130061263, LOC130061264, LOC130061265, LOC130061266, LOC130061267, LOC130061268, LOC130061269, LOC130061270, LOC130061271, LOC130061272, LOC130061273, LOC130061274, LOC130061275, LOC130061276, LOC130061277, LOC130061278, LOC130061279, LOC130061280, LOC130061281, LOC130061282, LOC130061283, LOC130061284, LOC130061285, LOC130061286, LOC130061287, LOC130061288, LOC130061289, LOC130061290, LOC130061291, LOC130061292, LOC130061293, LOC130061294, LOC130061295, LOC130061296, LOC130061297, LOC130061298, LOC130061299, LOC130061300, LOC130061301, LOC130061302, LOC130061303, LOC130061304, LOC130061305, LOC130061306, LOC130061307, LOC130061308, LOC130061309, LOC130061310, LOC130061311, LOC130061312, LOC130061313, LOC130061314, LOC130061315, LOC130061316, LOC130061317, LOC130061318, LOC130061319, LOC130061320, LOC130061321, LOC130061322, LOC130061323, LOC130061324, LOC130061325, LOC130061326, LOC130061327, LOC130061328, LOC130061329, LOC130061330, LOC130061331, LOC130061332, LOC130061333, LOC130061334, LOC130061335, LOC130061336, LOC130061337, LOC130061338, LOC130061339, LOC130061340, LOC130061341, LOC130061342, LOC130061343, LOC130061344, LOC130061345, LOC130061346, LOC130061347, LOC130061348, LOC130061349, LOC130061350, LOC130061351, LOC130061352, LOC130061353, LOC130061354, LOC130061355, LOC130061356, LOC130061357, LOC130061358, LOC130061359, LOC130061360, LOC130061361, LOC130061362, LOC130061363, LOC130061364, LOC130061365, LOC130061366, LOC130061367, LOC130061368, LOC130061369, LOC130061370, LOC130061371, LOC130061372, LOC130061373, LOC130061374, LOC130061375, LOC130061376, LOC130061377, LOC130061378, LOC130061379, LOC130061380, LOC130061381, LOC130061382, LOC130061383, LOC130061384, LOC130061385, LOC130061386, LOC130061387, LOC130061388, LOC130061389, LOC130061390, LOC130061391, LOC130061392, LOC130061393, LOC130061394, LOC130061395, LOC130061396, LOC130061397, LOC130061398, LOC130061399, LOC130061400, LOC130061401, LOC130061402, LOC130061403, LOC130061404, LOC130061405, LOC130061406, LOC130061407, LOC130061408, LOC130061409, LOC130061410, LOC130061411, LOC130061412, LOC130061413, LOC130061414, LOC130061415, LOC130061416, LOC130061417, LOC130061418, LOC130061419, LOC130061420, LOC130061421, LOC130061422, LOC130061423, LOC130061424, LOC130061425, LOC130061426, LOC130061427, LOC130061428, LOC130061429, LOC130061430, LOC130061431, LOC130061432, LOC130061433, LOC130061434, LOC130061435, LOC130061436, LOC130061437, LOC130061438, LOC130061439, LOC130061440, LOC130061441, LOC130061442, LOC130061443, LOC130061444, LOC130061445, LOC130061446, LOC130061447, LOC130061448, LOC130061449, LOC130061450, LOC130061451, LOC130061452, LOC130061453, LOC130061454, LOC130061455, LOC130061456, LOC130061457, LOC130061458, LOC130061459, LOC130061460, LOC130061461, LOC130061462, LOC130061463, LOC130061464, LOC130061465, LOC130061466, LOC130061467, LOC130061468, LOC130061469, LOC130061470, LOC130061471, LOC130061472, LOC130061473, LOC130061474, LOC130061475, LOC130061476, LOC130061477, LOC130061478, LOC130061479, LOC130061480, LOC130061481, LOC130061482, LOC130061483, LOC130061484, LOC130061485, LOC130061486, LOC130061487, LOC130061488, LOC130061489, LOC130061490, LOC130061491, LOC130061492, LOC130061493, LOC130061494, LOC130061495, LOC130061496, LOC130061497, LOC130061498, LOC130061499, LOC130061500, LOC130061501, LOC130061502, LOC130061503, LOC130061504, LOC130061505, LOC130061506, LOC130061507, LOC130061508, LOC130061509, LOC130061510, LOC130061511, LOC130061512, LOC130061513, LOC130061514, LOC130061515, LOC130061516, LOC130061517, LOC130061518, LOC130061519, LOC130061520, LOC130061521, LOC130061522, LOC130061523, LOC130061524, LOC130061525, LOC130061526, LOC130061527, LOC130061528, LOC130061529, 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, LOC131477896, LOC131520253, LOC132090895, LOC729683, LPO, LRRC37A, LRRC37A2, LRRC37A3, LRRC3C, LRRC46, LRRC59, LSM12, LUC7L3, MAP2K6, MAP3K14, MAP3K14-AS1, MAP3K3, MAPT, MAPT-AS1, MAPT-IT1, MARCHF10, MARCHF10-DT, MBTD1, MED1, MED13, MED24, MEIOC, MEOX1, METTL2A, MGC16275, MIEN1, MILR1, MIR10226, MIR10A, MIR1203, MIR142, MIR142HG, MIR152, MIR196A1, MIR21, MIR2117, MIR2117HG, MIR2909, MIR301A, MIR3064, MIR3185, MIR3614, MIR3615, MIR378J, MIR4315-1, MIR4315-2, MIR4524A, MIR4524B, MIR454, MIR4726, MIR4727, MIR4728, MIR4729, MIR4734, MIR4736, MIR4737, MIR5010, MIR5047, MIR5089 | | See cases | Pathogenic (Apr 21, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr17:48563237-65936105
- GRCh38:
- Chr17:36449220-68170214
| LOC130060795, LOC130060796, LOC130060807, LOC130060818, LOC130060829, AARSD1, AATF, ABCC3, ABI3, ACACA, ACBD4, ACE, ACLY, ACSF2, ADAM11, AKAP1, AKAP1-DT, ANKFN1, ANKRD40, ANKRD40CL, AOC2, AOC3, APOH, APPBP2, APPBP2-DT, ARHGAP23, ARHGAP27, ARL17A, ARL17B, ARL4D, ARL5C, ASB16, ASB16-AS1, ATP5MC1, ATP6V0A1, ATXN7L3, ATXN7L3-AS1, AXIN2, B4GALNT2, BCAS3, BCAS3-AS1, BECN1, BPTF, C17orf67, BRCA1, BRIP1, C17orf113, C17orf47, C17orf58, C17orf78, C1QL1, CA10, CA4, CACNA1G, CACNA1G-AS1, CACNB1, CACNG1, CACNG4, CACNG5, CALCOCO2, CASC3, CAVIN1, CBX1, CCDC103, CCDC182, CCDC200, CCDC43, CCDC47, CCR10, CCR7, CD300LG, CD79B, CDC27, CDC6, CDK12, CDK5RAP3, CEP112, CEP95, CFAP97D1, CHAD, CHCT1, CISD3, CLTC, CNP, CNTD1, CNTNAP1, COA3, COASY, COIL, COL1A1, COPZ2, COX11, CRHR1, CSF3, CSH1, CSH2, CSHL1, CUEDC1, CWC25, CYB561, DBF4B, DCAF7, DCAKD, DDX42, DDX5, DDX52, DGKE, DHRS11, DHX40, DHX58, DHX8, DLX3, DLX4, DNAJC7, DUSP14, DUSP3, DYNLL2, DYNLL2-DT, EFCAB13, EFCAB13-DT, EFCAB3, EFTUD2, EIF1, EME1, EPN3, EPOP, EPX, ERBB2, ERN1, ETV4, EZH1, FAM117A, FAM171A2, FAM187A, FAM215A, FAM215B, FBXL20, FBXO47, FKBP10, FLJ40194, FLJ45513, FMNL1, FMNL1-AS1, FMNL1-DT, FTSJ3, FZD2, G6PC1, G6PC3, GAST, GDPD1, GFAP, GGNBP2, GH-LCR, GH1, GH2, GHDC, GIP, GJC1, GJD3, GJD3-AS1, GNA13, GNGT2, GOSR2, GOSR2-DT, GPATCH8, GPR179, GRB7, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEATR6, HEATR6-DT, HELZ, HELZ-AS1, HEXIM1, HEXIM2, HEXIM2-AS1, HIGD1B, HLF, HNF1B, HOXB-AS1, HOXB-AS2, HOXB-AS3, HOXB-AS4, LOC130060840, LOC130060851, LOC130060862, LOC130060863, LOC130060874, LOC130060875, LOC130060886, LOC130060887, LOC130060898, LOC130060899, LOC130060910, LOC130060911, LOC130060922, LOC130060923, LOC130060924, LOC130060925, LOC130060926, LOC130060927, LOC130060920, LOC130060921, LOC130060928, LOC130060929, LOC130060930, LOC130060931, LOC130060932, LOC130060933, LOC130060888, LOC130060889, LOC130060890, LOC130060891, LOC130060892, LOC130060893, LOC130060894, LOC130060895, LOC130060896, LOC130060897, LOC130060900, LOC130060901, LOC130060902, LOC130060903, LOC130060904, LOC130060905, LOC130060906, LOC130060907, LOC130060908, LOC130060909, LOC130060912, LOC130060913, LOC130060914, LOC130060915, LOC130060864, LOC130060865, LOC130060856, LOC130060857, LOC130060858, LOC130060859, LOC130060860, LOC130060861, LOC130060866, LOC130060867, LOC130060868, LOC130060869, LOC130060870, LOC130060871, LOC130060872, LOC130060873, LOC130060916, LOC130060917, LOC130060876, LOC130060877, LOC130060878, LOC130060879, LOC130060880, LOC130060881, LOC130060882, LOC130060883, LOC130060830, LOC130060831, LOC130060832, LOC130060833, LOC130060834, LOC130060835, LOC130060827, LOC130060828, LOC130060836, LOC130060837, LOC130060838, LOC130060839, LOC130060884, LOC130060885, LOC130060841, LOC130060842, LOC130060843, LOC130060844, LOC130060845, LOC130060846, LOC130060847, LOC130060848, LOC130060849, LOC130060850, LOC130060918, LOC130060919, LOC130060797, LOC130060798, LOC130060799, LOC130060800, LOC130060801, LOC130060802, LOC130060803, LOC130060804, LOC130060852, LOC130060853, LOC130060791, LOC130060792, LOC130060793, LOC130060794, LOC130060789, LOC130060790, LOC130060805, LOC130060806, LOC130060808, LOC130060809, LOC130060810, LOC130060811, LOC130060812, LOC130060813, LOC130060814, LOC130060815, LOC130060816, LOC130060817, LOC130060854, LOC130060855, LOC130060819, LOC130060820, LOC130060821, LOC130060822, LOC130060823, LOC130060824, LOC130060825, LOC130060826, LOC130060785, LOC130060786, LOC130060787, LOC130060788, LOC130060934, LOC130060935, LOC130060936, LOC130060937, LOC130060938, LOC130060939, LOC130060940, LOC130060941, LOC130060942, LOC130060943, LOC130060944, LOC130060945, LOC130060946, LOC130060947, LOC130060948, LOC130060949, LOC130060950, LOC130060951, LOC130060952, LOC130060953, LOC130060954, LOC130060955, LOC130060956, LOC130060957, LOC130060958, LOC130060959, LOC130060960, LOC130060961, LOC130060962, LOC130060963, LOC130060964, LOC130060965, LOC130060966, LOC130060967, LOC130060968, LOC130060969, LOC130060970, LOC130060971, LOC130060972, LOC130060973, LOC130060974, LOC130060975, LOC130060976, LOC130060977, LOC130060978, LOC130060979, LOC130060980, LOC130060981, LOC130060982, LOC130060983, LOC130060984, LOC130060985, LOC130060986, LOC130060987, LOC130060988, LOC130060989, LOC130060990, LOC130060991, LOC130060992, LOC130060993, LOC130060994, LOC130060995, LOC130060996, LOC130060997, LOC130060998, LOC130060999, LOC130061000, LOC130061001, LOC130061002, LOC130061003, LOC130061004, LOC130061005, LOC130061006, LOC130061007, LOC130061008, LOC130061009, LOC130061010, LOC130061011, LOC130061012, LOC130061013, LOC130061014, LOC130061015, LOC130061016, LOC130061017, LOC130061018, LOC130061019, LOC130061020, LOC130061021, LOC130061022, LOC130061023, LOC130061024, LOC130061025, LOC130061026, LOC130061027, LOC130061028, LOC130061029, LOC130061030, LOC130061031, LOC130061032, LOC130061033, LOC130061034, LOC130061035, LOC130061036, LOC130061037, LOC130061038, LOC130061039, LOC130061040, LOC130061041, LOC130061042, LOC130061043, LOC130061044, LOC130061045, LOC130061046, LOC130061047, LOC130061048, LOC130061049, LOC130061050, LOC130061051, LOC130061052, LOC130061053, LOC130061054, LOC130061055, LOC130061056, LOC130061057, LOC130061058, LOC130061059, LOC130061060, LOC130061061, LOC130061062, LOC130061063, LOC130061064, LOC130061065, LOC130061066, LOC130061067, LOC130061068, LOC130061069, LOC130061070, LOC130061071, LOC130061072, LOC130061073, LOC130061074, LOC130061075, LOC130061076, LOC130061077, LOC130061078, LOC130061079, LOC130061080, LOC130061081, LOC130061082, LOC130061083, LOC130061084, LOC130061085, LOC130061086, LOC130061087, LOC130061088, LOC130061089, LOC130061090, LOC130061091, LOC130061092, LOC130061093, LOC130061094, LOC130061095, LOC130061096, LOC130061097, LOC130061098, LOC130061099, LOC130061100, LOC130061101, LOC130061102, LOC130061103, LOC130061104, LOC130061105, LOC130061106, LOC130061107, LOC130061108, LOC130061109, LOC130061110, LOC130061111, LOC130061112, LOC130061113, LOC130061114, LOC130061115, LOC130061116, LOC130061117, LOC130061118, LOC130061119, LOC130061120, LOC130061121, LOC130061122, LOC130061123, LOC130061124, LOC130061125, LOC130061126, LOC130061127, LOC130061128, LOC130061129, LOC130061130, LOC130061131, LOC130061132, LOC130061133, LOC130061134, LOC130061135, LOC130061136, LOC130061137, LOC130061138, LOC130061139, LOC130061140, LOC130061141, LOC130061142, LOC130061143, LOC130061144, LOC130061145, LOC130061146, LOC130061147, LOC130061148, LOC130061149, LOC130061150, LOC130061151, LOC130061152, LOC130061153, LOC130061154, LOC130061155, LOC130061156, LOC130061157, LOC130061158, LOC130061159, LOC130061160, LOC130061161, LOC130061162, LOC130061163, LOC130061164, LOC130061165, LOC130061166, LOC130061167, LOC130061168, LOC130061169, LOC130061170, LOC130061171, LOC130061172, LOC130061173, LOC130061174, LOC130061175, LOC130061176, LOC130061177, LOC130061178, LOC130061179, LOC130061180, LOC130061181, LOC130061182, LOC130061183, LOC130061184, LOC130061185, LOC130061186, LOC130061187, LOC130061188, LOC130061189, LOC130061190, LOC130061191, LOC130061192, LOC130061193, LOC130061194, LOC130061195, LOC130061196, LOC130061197, LOC130061198, LOC130061199, LOC130061200, LOC130061201, LOC130061202, LOC130061203, LOC130061204, LOC130061205, LOC130061206, LOC130061207, LOC130061208, LOC130061209, LOC130061210, LOC130061211, LOC130061212, LOC130061213, LOC130061214, LOC130061215, LOC130061216, LOC130061217, LOC130061218, LOC130061219, LOC130061220, LOC130061221, LOC130061222, LOC130061223, LOC130061224, LOC130061225, LOC130061226, LOC130061227, LOC130061228, LOC130061229, LOC130061230, LOC130061231, LOC130061232, LOC130061233, LOC130061234, LOC130061235, LOC130061236, LOC130061237, LOC130061238, LOC130061239, LOC130061240, LOC130061241, LOC130061242, LOC130061243, LOC130061244, LOC130061245, LOC130061246, LOC130061247, LOC130061248, LOC130061249, LOC130061250, LOC130061251, LOC130061252, LOC130061253, LOC130061254, LOC130061255, LOC130061256, LOC130061257, LOC130061258, LOC130061259, LOC130061260, LOC130061261, LOC130061262, LOC130061263, LOC130061264, LOC130061265, LOC130061266, LOC130061267, LOC130061268, LOC130061269, LOC130061270, LOC130061271, LOC130061272, LOC130061273, LOC130061274, LOC130061275, LOC130061276, LOC130061277, LOC130061278, LOC130061279, LOC130061280, LOC130061281, LOC130061282, LOC130061283, LOC130061284, LOC130061285, LOC130061286, LOC130061287, LOC130061288, LOC130061289, LOC130061290, LOC130061291, LOC130061292, LOC130061293, LOC130061294, LOC130061295, LOC130061296, LOC130061297, LOC130061298, LOC130061299, LOC130061300, LOC130061301, LOC130061302, LOC130061303, LOC130061304, LOC130061305, LOC130061306, LOC130061307, LOC130061308, LOC130061309, LOC130061310, LOC130061311, LOC130061312, LOC130061313, LOC130061314, LOC130061315, LOC130061316, LOC130061317, LOC130061318, LOC130061319, LOC130061320, LOC130061321, LOC130061322, LOC130061323, LOC130061324, LOC130061325, LOC130061326, LOC130061327, LOC130061328, LOC130061329, LOC130061330, LOC130061331, LOC130061332, LOC130061333, LOC130061334, LOC130061335, LOC130061336, LOC130061337, LOC130061338, LOC130061339, LOC130061340, LOC130061341, LOC130061342, LOC130061343, LOC130061344, LOC130061345, LOC130061346, LOC130061347, LOC130061348, LOC130061349, LOC130061350, LOC130061351, LOC130061352, LOC130061353, LOC130061354, LOC130061355, LOC130061356, LOC130061357, LOC130061358, LOC130061359, LOC130061360, LOC130061361, LOC130061362, LOC130061363, LOC130061364, LOC130061365, LOC130061366, LOC130061367, LOC130061368, LOC130061369, LOC130061370, LOC130061371, LOC130061372, LOC130061373, LOC130061374, LOC130061375, LOC130061376, LOC130061377, LOC130061378, LOC130061379, LOC130061380, LOC130061381, LOC130061382, LOC130061383, LOC130061384, LOC130061385, LOC130061386, LOC130061387, LOC130061388, LOC130061389, LOC130061390, LOC130061391, LOC130061392, LOC130061393, LOC130061394, LOC130061395, LOC130061396, LOC130061397, LOC130061398, LOC130061399, LOC130061400, LOC130061401, LOC130061402, LOC130061403, LOC130061404, LOC130061405, LOC130061406, LOC130061407, LOC130061408, LOC130061409, LOC130061410, LOC130061411, LOC130061412, LOC130061413, LOC130061414, LOC130061415, LOC130061416, LOC130061417, LOC130061418, LOC130061419, LOC130061420, LOC130061421, LOC130061422, LOC130061423, LOC130061424, LOC130061425, LOC130061426, LOC130061427, LOC130061428, LOC130061429, LOC130061430, LOC130061431, LOC130061432, LOC130061433, LOC130061434, LOC130061435, LOC130061436, LOC130061437, LOC130061438, LOC130061439, LOC130061440, LOC130061441, LOC130061442, LOC130061443, LOC130061444, LOC130061445, LOC130061446, LOC130061447, LOC130061448, LOC130061449, LOC130061450, LOC130061451, LOC130061452, LOC130061453, LOC130061454, LOC130061455, LOC130061456, LOC130061457, LOC130061458, LOC130061459, LOC130061460, LOC130061461, LOC130061462, LOC130061463, LOC130061464, LOC130061465, LOC130061466, LOC130061467, LOC130061468, LOC130061469, LOC130061470, LOC130061471, LOC130061472, LOC130061473, LOC130061474, LOC130061475, LOC130061476, LOC130061477, LOC130061478, LOC130061479, LOC130061480, LOC130061481, LOC130061482, LOC130061483, LOC130061484, LOC130061485, LOC130061486, LOC130061487, LOC130061488, LOC130061489, LOC130061490, LOC130061491, LOC130061492, LOC130061493, LOC130061494, LOC130061495, LOC130061496, LOC130061497, LOC130061498, LOC130061499, LOC130061500, LOC130061501, LOC130061502, LOC130061503, LOC130061504, LOC729683, LPO, LRRC37A, LRRC37A2, LRRC37A3, LRRC3C, LRRC46, LRRC59, LSM12, LUC7L3, MAP3K14, MAP3K14-AS1, MAP3K3, MAPT, MAPT-AS1, MAPT-IT1, MARCHF10, MARCHF10-DT, MBTD1, MED1, MED13, MED24, MEIOC, MEOX1, METTL2A, MIEN1, MILR1, MIR10226, MIR10A, MIR1203, MIR142, MIR142HG, MIR152, MIR196A1, MIR21, MIR2117, MIR2117HG, MIR2909, MIR301A, MIR3064, MIR3185, MIR3614, MIR378J, MIR4315-1, MIR4315-2, MIR454, MIR4726, MIR4727, MIR4728, MIR4729, MIR4734, MIR4736, MIR4737, MIR5010, MIR5047, MIR5089, MIR548AA2, MIR548AT, MIR548BC, MIR548D2, MIR6080, MIR6129, MIR6165, MIR633, MIR634, MIR6510, MIR6779, MIR6780A, MIR6781, MIR6782, MIR6783, MIR6784, MIR6866, MIR6867, MIR6884, MIR8059, MKS1, MLLT6, MLX, MMD, MPO, MPP2, MPP3, MRC2, MRM1, MRPL10, MRPL27, MRPL45, MRPS23, MSI2, MSL1, MTMR4, MYCBPAP, MYL4, MYO19, NACA2, NAGLU, NAGS, NBR1, NBR2, NEUROD2, NFE2L1, NFE2L1-DT, NGFR, NGFR-AS1, NKIRAS2, NME1, NME1-NME2, NME2, NMT1, NOG, NOL11, NPEPPS, NR1D1, NSF, NT5C3B, NXPH3, ODAD4, OR4D1, OR4D2, ORMDL3, OSBPL7, P3H4, PCGF2, PCTP, PDK2, PECAM1, PGAP3, PHB1, PHOSPHO1, PICART1, PIGW, PIP4K2B, PITPNC1, PLCD3, PLEKHH3, PLEKHM1, PLXDC1, PNMT, PNPO, POLG2, PRAC2, PPM1D, PPM1E, PPP1R1B, PPP1R9B, PPY, PRAC1, PRKCA, PRKCA-AS1, PRR11, PRR15L, PRR29, PRR29-AS1, PSMB3, PSMC3IP, PSMC5, PSMD12, PSMD3, PSME3, PTGES3L, PTGES3L-AARSD1, PTRH2, PYY, RAB5C, RAB5C-AS1, RAD51C, RAMP2, RAMP2-AS1, RAPGEFL1, RARA, RARA-AS1, RETREG3, RGS9, RND2, RNF43, RNFT1, RNFT1-DT, RNU2-1, RPL19, RPL23, RPL27, RPRML, RPS6KB1, RSAD1, RUNDC1, RUNDC3A, RUNDC3A-AS1, SAMD14, SCARNA20, SCN4A, SCPEP1, SCRN2, SEPTIN4, SEPTIN4-AS1, SGCA, SKA2, SKAP1, SKAP1-AS2, SLC25A39, SLC35B1, SLC4A1, SMARCD2, SMARCE1, SMG8, SMIM36, SMURF2, SNF8, SNHG25, SNORA21, SNORA21B, SNORA38B, SNORA50C, SNORA90, SNORD104, SNORD124, SNX11, SOCS7, SOST, SP2, SP2-AS1, SP2-DT, SP6, SPAG9, SPATA20, SPATA32, SPMAP1, SPOP, SPPL2C, SRCIN1, SRSF1, STAC2, STARD3, STAT3, STAT5A, STAT5B, STH, STRADA, STXBP4, SUPT4H1, SYNRG, TAC4, TACO1, TADA2A, TANC2, TBC1D3, TBC1D3C, TBC1D3D, TBC1D3E, TBC1D3K, TBC1D3L, TBKBP1, TBX2, TBX2-AS1, TBX21, TBX4, TCAP, TEX14, TEX2, THRA, TLK2, TMEM100, TMEM101, TMEM106A, TMEM92, TMEM92-AS1, TMUB2, TNS4, TOB1, TOB1-AS1, TOM1L1, TOP2A, TRC-GCA14-1, TRC-GCA2-2, TRC-GCA2-3, TRC-GCA2-4, TRC-GCA4-1, TRIM25, TRIM37, TRN-GTT2-5, TRQ-TTG1-1, TRR-CCG2-1, TRSUP-TTA1-1, TSPOAP1, TSPOAP1-AS1, TTLL6, TUBD1, TUBG1, TUBG2, UBE2Z, UBTF, USP32, UTP18, VAT1, VEZF1, VMP1, VPS25, WFIKKN2, WIPF2, WNK4, WNT3, WNT9B, XYLT2, YPEL2, ZNF385C, ZNF652, ZNF652-AS1, ZNHIT3, ZPBP2, HOXB5, HROB, IFI35, ITGA2B, ITGA3, KAT7, KCNH4, KCNH6, KIF18B, KIF2B, HSD17B1, HOXB7, HSD17B1-AS1, HSF5, HSPB9, ICAM2, IGBP1C, IGF2BP1, IGFBP4, HOXB9, HOXBLINC, HOXB8, IKZF3, HOXB3, HOXB4, INTS2, HOXB6, HOXB1, HOXB13, HOXB2, ITGB3, JUP, KANSL1, KANSL1-AS1, KAT2A, KLHL10, KLHL11, KPNA2, KPNB1, KPNB1-DT, 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, KRTAP29-1, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-12, KRTAP4-16, 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, LASP1, LASP1NB, LHX1, LHX1-DT, LIMD2, LINC00671, LINC00674, LINC00910, LINC00974, LINC01180, LINC01476, LINC01969, LINC01974, LINC01976, LINC01982, LINC01999, LINC02071, LINC02072, LINC02073, LINC02075, LINC02079, LINC02086, LINC02089, LINC02210, LINC02210-CRHR1, LINC02563, LINC02594, LINC02875, LINC02876, LINC03057, LOC100287808, LOC100505782, LOC100507002, LOC100996660, LOC101927166, LOC101927539, LOC101927557, LOC101927855, LOC101928045, LOC101929767, LOC102724183, LOC105371756, LOC105371763, LOC105371767, LOC105371773, LOC105371789, LOC105371795, LOC105371814, LOC105371824, LOC105371855, LOC105371856, LOC105371934, LOC105980078, LOC106677019, LOC106694315, LOC106694316, LOC108004529, LOC108004536, LOC108281137, LOC109280161, LOC109286563, LOC109609706, LOC110120862, LOC110120863, LOC110120913, LOC110120923, LOC110120932, LOC110121386, LOC110121446, LOC110121451, LOC110121475, LOC110121501, LOC110485084, LOC110485085, LOC111089947, LOC111240475, LOC111465016, LOC111589213, LOC111589215, LOC111589216, LOC111822952, LOC112529910, LOC112529911, LOC112529912, LOC112529913, LOC112529914, LOC112533637, LOC112533638, LOC112533639, LOC112533640, LOC112533641, LOC112533642, LOC112533643, LOC112533644, LOC112533645, LOC112533646, LOC112533647, LOC112533648, LOC112533649, LOC112533650, LOC112533651, LOC112533652, LOC112533653, LOC112533654, LOC112533655, LOC112533658, LOC112533659, LOC112533660, LOC112533661, LOC112533662, LOC113939962, LOC113939963, LOC114803472, LOC114827848, LOC116276460, LOC116276461, LOC116276462, LOC116276463, LOC116276464, LOC116276465, LOC116276466, LOC116276467, LOC116276468, LOC116276469, LOC116276470, LOC116276471, LOC116276472, LOC116276473, LOC116276474, LOC116276475, LOC116276476, LOC116276477, LOC116276478, LOC120285839, LOC121587588, LOC121587589, LOC121587590, LOC121587591, LOC121587592, LOC121587593, LOC121587594, LOC121587595, LOC121587596, LOC121587597, LOC121587598, LOC121587599, LOC121587600, LOC121587601, LOC121587602, LOC121587603, LOC121587604, LOC121587605, LOC121603768, LOC121603769, LOC121603770, LOC121603771, LOC121852931, LOC121852932, LOC121852933, LOC121852934, LOC121852935, LOC121852936, LOC121852937, LOC121852938, LOC121852939, LOC121852940, LOC121852941, LOC121852942, LOC121852943, LOC121852944, LOC121852945, LOC121852946, LOC121852947, LOC125177462, LOC125177463, LOC125177464, LOC125177465, LOC125177466, LOC125177467, LOC125177469, LOC125177470, LOC125177471, LOC125177472, LOC125177473, LOC125177474, LOC125177475, LOC125177476, LOC125177477, LOC125177478, LOC125177479, LOC125177480, LOC125177481, LOC125177482, LOC125177484, LOC125177485, LOC125177486, LOC125177487, LOC125177488, LOC125177489, LOC125177490, LOC125177491, LOC125177492, LOC125177493, LOC125177494, LOC125177495, LOC125177496, LOC125177497, LOC125177498, LOC125177500, LOC125177501, LOC125177502, LOC125177503, LOC125177504, LOC125177505, LOC125177507, LOC125177508, LOC125177509, LOC125177510, LOC125177512, LOC125177513, LOC125177514, LOC125177515, LOC125177516, LOC125177517, LOC125177518, LOC125177519, LOC125177520, LOC125177521, LOC125177522, LOC125177523, LOC125177524, LOC125177525, LOC125177526, LOC125177527, LOC125312415, LOC125312416, LOC125312417, LOC125312418, LOC125312419, LOC125312420, LOC125316770, LOC125316771, LOC125316772, LOC125316773, LOC125316774, LOC125316775, LOC125316776, LOC125316777, LOC125316778, LOC125316779, LOC125316780, LOC125316781, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC126862550, LOC126862551, LOC126862552, LOC126862553, LOC126862554, LOC126862555, LOC126862556, LOC126862557, LOC126862558, LOC126862559, LOC126862560, LOC126862561, LOC126862562, LOC126862563, LOC126862564, LOC126862565, LOC126862566, LOC126862567, LOC126862568, LOC126862569, LOC126862570, LOC126862571, LOC126862572, LOC126862573, LOC126862574, LOC126862575, LOC126862576, LOC126862577, LOC126862578, LOC126862579, LOC126862580, LOC126862581, LOC126862582, LOC126862583, LOC126862584, LOC126862585, LOC126862586, LOC126862587, LOC126862588, LOC126862589, LOC126862590, LOC126862591, LOC126862592, LOC126862593, LOC126862594, LOC126862595, LOC126862596, LOC126862597, LOC126862598, LOC126862599, LOC126862600, LOC126862601, LOC126862602, LOC126862603, LOC126862604, LOC126862605, LOC126862606, LOC126862607, LOC126862608, LOC126862609, LOC126862610, LOC126862611, LOC126862612, LOC126862613, LOC126862614, LOC126862615, LOC126862616, LOC126862617, LOC126862618, LOC126862619, LOC126862620, LOC126862621, LOC126862622, LOC126862623, LOC128669077, LOC128669078, LOC129390865, LOC129390866, LOC129390867, LOC129390868, LOC129390869, LOC129390870, LOC129390871, LOC129390872, LOC129390873, LOC129390874, LOC129390875, LOC129390876, LOC129390877, LOC129390878, LOC129390879, LOC129390880, LOC129390881, LOC129390882, LOC129390883, LOC129390884, LOC129390885, LOC129390886, LOC129390887, LOC129390888, LOC129390889, LOC129390890, LOC129390891, LOC129390892, LOC129390893, LOC129390894, LOC129390895, LOC129390896, LOC129390897, LOC129390898, LOC129390899, LOC129390900, LOC129390901, LOC129390902, LOC129390903, LOC129390904, LOC129390905, LOC129390906, LOC129390907, LOC129390908, LOC129390909, LOC129390910, LOC129390911, LOC129390912, LOC129390913, LOC129390914, LOC129390915, LOC129390916, LOC129390917, LOC129390918, LOC129390919, LOC129390920, LOC129390921, LOC129390922, LOC130060737, LOC130060738, LOC130060739, LOC130060740, LOC130060741, LOC130060742, LOC130060743, LOC130060744, LOC130060745, LOC130060746, LOC130060747, LOC130060748, LOC130060749, LOC130060750, LOC130060751, LOC130060752, LOC130060753, LOC130060754, LOC130060755, LOC130060756, LOC130060757, LOC130060758, LOC130060759, LOC130060760, LOC130060761, LOC130060762, LOC130060763, LOC130060764, LOC130060765, LOC130060766, LOC130060767, LOC130060768, LOC130060769, LOC130060770, LOC130060771, LOC130060772, LOC130060773, LOC130060774, LOC130060775, LOC130060776, LOC130060777, LOC130060778, LOC130060779, LOC130060780, LOC130060781, LOC130060782, LOC130060783, LOC130060784 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr17:110972-457041
- GRCh38:
- Chr17:64307125-64748462
| CEP95, DDX5, LOC126862616, LOC130061432, LOC130061433, LOC130061434, LOC130061435, LOC130061436, LOC130061437, LOC130061438, LOC130061439, LOC130061440, LOC130061441, LOC130061442, LOC130061443, LOC130061444, LOC130061445, LOC130061446, MILR1, MIR3064, MIR5047, PECAM1, POLG2, SMURF2 | | See cases | Uncertain significance (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr17:62473851
- GRCh38:
- Chr17:64477734
| MILR1, POLG2 | | not provided | Likely benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62473953
- GRCh38:
- Chr17:64477836
| MILR1, POLG2 | A482V | not provided | Uncertain significance (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62473954
- GRCh38:
- Chr17:64477837
| MILR1, POLG2 | A482S | not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | Uncertain significance (Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62473963
- GRCh38:
- Chr17:64477846
| MILR1, POLG2 | I479V | not provided | Uncertain significance (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62473967
- GRCh38:
- Chr17:64477850
| MILR1, POLG2 | | not provided | Likely benign (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62473974-62473975
- GRCh38:
- Chr17:64477857-64477858
| POLG2, MILR1 | L475fs | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | Pathogenic (Aug 1, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr17:62473981
- GRCh38:
- Chr17:64477864
| MILR1, POLG2 | D473N | not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, Hereditary spastic paraplegia
| Conflicting interpretations of pathogenicity (Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:62474012
- GRCh38:
- Chr17:64477895
| POLG2, MILR1 | M462I | not provided | Uncertain significance (Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474014
- GRCh38:
- Chr17:64477897
| POLG2, MILR1 | M462V | not provided | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474017
- GRCh38:
- Chr17:64477900
| POLG2, MILR1 | T461A | not provided | Uncertain significance (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474033
- GRCh38:
- Chr17:64477916
| MILR1, POLG2 | | not provided | Likely benign (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474035
- GRCh38:
- Chr17:64477918
| MILR1, POLG2 | L455M | not provided, Hereditary spastic paraplegia | Uncertain significance (Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62474046
- GRCh38:
- Chr17:64477929
| MILR1, POLG2 | G451E | POLG2-Related Disorders | Likely pathogenic (Aug 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474049
- GRCh38:
- Chr17:64477932
| MILR1, POLG2 | N450T | not provided | Uncertain significance (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474051-62474055
- GRCh38:
- Chr17:64477934-64477938
| MILR1, POLG2 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | Uncertain significance (Oct 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474052
- GRCh38:
- Chr17:64477935
| MILR1, POLG2 | E449A | not provided | Uncertain significance (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474054
- GRCh38:
- Chr17:64477937
| MILR1, POLG2 | L448F | not provided | Uncertain significance (Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474058
- GRCh38:
- Chr17:64477941
| MILR1, POLG2 | T447S | not provided | Uncertain significance (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474059
- GRCh38:
- Chr17:64477942
| MILR1, POLG2 | T447A | not provided | Uncertain significance (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474074
- GRCh38:
- Chr17:64477957
| MILR1, POLG2 | L442V | not provided | Uncertain significance (Oct 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474079
- GRCh38:
- Chr17:64477962
| POLG2, MILR1 | T440I | not provided | Uncertain significance (May 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474081
- GRCh38:
- Chr17:64477964
| MILR1, POLG2 | | not provided | Likely benign (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474083
- GRCh38:
- Chr17:64477966
| MILR1, POLG2 | F439L | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474101
- GRCh38:
- Chr17:64477984
| MILR1, POLG2 | | Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) | Pathogenic (Jul 16, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr17:62474103
- GRCh38:
- Chr17:64477986
| POLG2, MILR1 | Y432C | not provided | Uncertain significance (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474105
- GRCh38:
- Chr17:64477988
| MILR1, POLG2 | K431N | not provided | Likely pathogenic (Jul 22, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474115
- GRCh38:
- Chr17:64477998
| MILR1, POLG2 | | not provided | Likely benign (Sep 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474118
- GRCh38:
- Chr17:64478001
| MILR1, POLG2 | | not provided | Likely benign (Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62474398-62474400
- GRCh38:
- Chr17:64478281-64478283
| MILR1, POLG2 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476371
- GRCh38:
- Chr17:64480254
| POLG2, MILR1 | | not provided | Likely benign (Dec 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476406
- GRCh38:
- Chr17:64480289
| MILR1, POLG2 | K431R | POLG2-related spectrum disorders, not provided | Uncertain significance (Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62476408
- GRCh38:
- Chr17:64480291
| MILR1, POLG2 | | not provided | Likely benign (Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476409
- GRCh38:
- Chr17:64480292
| MILR1, POLG2 | S430L | not provided | Uncertain significance (May 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476416
- GRCh38:
- Chr17:64480299
| MILR1, POLG2 | L428F | not provided, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:62476420
- GRCh38:
- Chr17:64480303
| MILR1, POLG2 | | not provided | Likely benign (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476423
- GRCh38:
- Chr17:64480306
| MILR1, POLG2 | | not provided | Likely benign (Dec 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476425
- GRCh38:
- Chr17:64480308
| MILR1, POLG2 | | not provided | Likely benign (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476428
- GRCh38:
- Chr17:64480311
| POLG2, MILR1 | S424P | not provided | Uncertain significance (Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62476429
- GRCh38:
- Chr17:64480312
| MILR1, POLG2 | | not specified, not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
| Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62476430
- GRCh38:
- Chr17:64480313
| MILR1, POLG2 | S423Y | not specified, not provided | Conflicting interpretations of pathogenicity (Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:62476431
- GRCh38:
- Chr17:64480314
| MILR1, POLG2 | S423A | not provided | Uncertain significance (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476433
- GRCh38:
- Chr17:64480316
| MILR1, POLG2 | Q422P | not specified | Uncertain significance (Feb 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476435
- GRCh38:
- Chr17:64480318
| POLG2, MILR1 | M421I | not provided | Uncertain significance (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62476436
- GRCh38:
- Chr17:64480319
| MILR1, POLG2 | M421T | not provided | Uncertain significance (Mar 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62476443
- GRCh38:
- Chr17:64480326
| MILR1, POLG2 | E419K | not provided | Uncertain significance (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476451
- GRCh38:
- Chr17:64480334
| MILR1, POLG2 | G416A | not specified, not provided, Hereditary spastic paraplegia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | Benign/Likely benign (Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62476465
- GRCh38:
- Chr17:64480348
| MILR1, POLG2 | | not provided | Likely benign (Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476479
- GRCh38:
- Chr17:64480362
| MILR1, POLG2 | L407I | not provided | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476479
- GRCh38:
- Chr17:64480362
| MILR1, POLG2 | | not provided | Likely benign (Jun 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476481
- GRCh38:
- Chr17:64480364
| MILR1, POLG2 | L406S | not provided | Uncertain significance (Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476490-62476491
- GRCh38:
- Chr17:64480373-64480374
| MILR1, POLG2 | | Variant of unknown significance | Uncertain significance (Sep 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr17:62476491
- GRCh38:
- Chr17:64480374
| MILR1, POLG2 | F403L | Inborn genetic diseases | Uncertain significance (Feb 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476495
- GRCh38:
- Chr17:64480378
| MILR1, POLG2 | | not provided | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476499
- GRCh38:
- Chr17:64480382
| MILR1, POLG2 | Q400L | not provided | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476507
- GRCh38:
- Chr17:64480390
| MILR1, POLG2 | | not provided | Uncertain significance (Jul 14, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62476509-62476512
- GRCh38:
- Chr17:64480392-64480395
| MILR1, POLG2 | | not specified, not provided | Conflicting interpretations of pathogenicity (Oct 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:62476638
- GRCh38:
- Chr17:64480521
| MILR1, POLG2 | | not provided | Benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62478840
- GRCh38:
- Chr17:64482723
| MILR1, POLG2 | | not provided | Likely benign (Feb 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479028-62479029
- GRCh38:
- Chr17:64482911-64482912
| MILR1, POLG2 | | Mitochondrial dna depletion syndrome 16B (neuroophthalmic type), not provided, Mitochondrial DNA depletion syndrome 16 (hepatic type), Progressive external ophthalmoplegia with mitochondrial DNA deletions, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, Mitochondrial DNA depletion syndrome 16 (hepatic type), Mitochondrial dna depletion syndrome 16B (neuroophthalmic type), not specified
| Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62479035
- GRCh38:
- Chr17:64482918
| MILR1, POLG2 | | not provided | Uncertain significance (Sep 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479036
- GRCh38:
- Chr17:64482919
| MILR1, POLG2 | | not provided | Uncertain significance (Apr 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479036-62479039
- GRCh38:
- Chr17:64482919-64482922
| MILR1, POLG2 | Q397fs | not provided | Pathogenic (Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479037
- GRCh38:
- Chr17:64482920
| MILR1, POLG2 | Q397L | not provided | Uncertain significance (Mar 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479038
- GRCh38:
- Chr17:64482921
| POLG2, MILR1 | Q397E | not provided | Uncertain significance (Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479050
- GRCh38:
- Chr17:64482933
| POLG2, MILR1 | | not provided | Likely benign (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479056
- GRCh38:
- Chr17:64482939
| MILR1, POLG2 | P391T | Inborn genetic diseases, not provided | Uncertain significance (Jul 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62479069
- GRCh38:
- Chr17:64482952
| MILR1, POLG2 | D386E | Progressive external ophthalmoplegia with mitochondrial DNA deletions, not provided, Hereditary spastic paraplegia
| Benign (Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62479076
- GRCh38:
- Chr17:64482959
| MILR1, POLG2 | A384G | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479083
- GRCh38:
- Chr17:64482966
| POLG2, MILR1 | K382E | not provided | Uncertain significance (Apr 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479086
- GRCh38:
- Chr17:64482969
| MILR1, POLG2 | I381V | not provided | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479097
- GRCh38:
- Chr17:64482980
| MILR1, POLG2 | C377Y | not provided | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479100-62479103
- GRCh38:
- Chr17:64482983-64482986
| MILR1, POLG2 | H375fs | not provided | Uncertain significance (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479107
- GRCh38:
- Chr17:64482990
| MILR1, POLG2 | L374F | not provided | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479125
- GRCh38:
- Chr17:64483008
| MILR1, POLG2 | | not provided | Likely benign (Oct 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479126
- GRCh38:
- Chr17:64483009
| MILR1, POLG2 | | not provided | Uncertain significance (Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479127
- GRCh38:
- Chr17:64483010
| POLG2, MILR1 | | not provided | Likely benign (Mar 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479131
- GRCh38:
- Chr17:64483014
| POLG2, MILR1 | | not provided | Likely benign (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479131-62479132
- GRCh38:
- Chr17:64483014-64483015
| MILR1, POLG2 | | not specified, not provided | Benign/Likely benign (Dec 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62479133
- GRCh38:
- Chr17:64483016
| POLG2, MILR1 | | not provided | Likely benign (Aug 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62479273
- GRCh38:
- Chr17:64483156
| MILR1, POLG2 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62481790
- GRCh38:
- Chr17:64485673
| POLG2, MILR1 | | not provided | Likely benign (Aug 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62481801
- GRCh38:
- Chr17:64485684
| MILR1, POLG2 | | Mitochondrial dna depletion syndrome 16B (neuroophthalmic type), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, not provided, Mitochondrial DNA depletion syndrome 16 (hepatic type) | Benign (Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62481841
- GRCh38:
- Chr17:64485724
| POLG2, MILR1 | | not provided | Uncertain significance (May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62481850
- GRCh38:
- Chr17:64485733
| POLG2, MILR1 | R369G | not provided, Hereditary spastic paraplegia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
| Conflicting interpretations of pathogenicity (Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:62481852
- GRCh38:
- Chr17:64485735
| MILR1, POLG2 | H368L | not provided | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62481853
- GRCh38:
- Chr17:64485736
| MILR1, POLG2 | H368fs | not specified | Uncertain significance (Mar 13, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62481854
- GRCh38:
- Chr17:64485737
| MILR1, POLG2 | | not provided | Likely benign (Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62481875
- GRCh38:
- Chr17:64485758
| MILR1, POLG2 | | not provided | Likely benign (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62481875
- GRCh38:
- Chr17:64485758
| MILR1, POLG2 | | not provided | Likely benign (Jul 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62481878
- GRCh38:
- Chr17:64485761
| MILR1, POLG2 | | not provided | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62481881
- GRCh38:
- Chr17:64485764
| MILR1, POLG2 | | not provided | Likely benign (Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62481890
- GRCh38:
- Chr17:64485773
| MILR1, POLG2 | | not provided | Likely benign (Apr 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62481893
- GRCh38:
- Chr17:64485776
| POLG2, MILR1 | | not provided | Likely benign (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62481924
- GRCh38:
- Chr17:64485807
| MILR1, POLG2 | R344Q | Mitochondrial DNA depletion syndrome 16 (hepatic type) | Uncertain significance (Jun 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62481925
- GRCh38:
- Chr17:64485808
| MILR1, POLG2 | R344* | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr17:62481953
- GRCh38:
- Chr17:64485836
| MILR1, POLG2 | C334W | not provided | Uncertain significance (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62481954
- GRCh38:
- Chr17:64485837
| MILR1, POLG2 | C334Y | not provided | Uncertain significance (Jul 15, 2022) | criteria provided, single submitter |