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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Apr 21, 2011)
no assertion criteria provided
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr17:110972-457041
GRCh38:
Chr17:64307125-64748462
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
4.
GRCh37:
Chr17:62473851
GRCh38:
Chr17:64477734
MILR1, POLG2not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr17:62473953
GRCh38:
Chr17:64477836
MILR1, POLG2A482Vnot providedUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr17:62473954
GRCh38:
Chr17:64477837
MILR1, POLG2A482Snot provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4Uncertain significance
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr17:62473963
GRCh38:
Chr17:64477846
MILR1, POLG2I479Vnot providedUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr17:62473967
GRCh38:
Chr17:64477850
MILR1, POLG2not providedLikely benign
(Oct 10, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr17:62473974-62473975
GRCh38:
Chr17:64477857-64477858
POLG2, MILR1L475fsProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4Pathogenic
(Aug 1, 2011)
no assertion criteria provided
10.
GRCh37:
Chr17:62473981
GRCh38:
Chr17:64477864
MILR1, POLG2D473Nnot 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
11.
GRCh37:
Chr17:62474012
GRCh38:
Chr17:64477895
POLG2, MILR1M462Inot providedUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr17:62474014
GRCh38:
Chr17:64477897
POLG2, MILR1M462Vnot providedUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr17:62474017
GRCh38:
Chr17:64477900
POLG2, MILR1T461Anot providedUncertain significance
(Aug 30, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr17:62474033
GRCh38:
Chr17:64477916
MILR1, POLG2not providedLikely benign
(Jan 26, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr17:62474035
GRCh38:
Chr17:64477918
MILR1, POLG2L455Mnot provided, Hereditary spastic paraplegiaUncertain significance
(Jun 22, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr17:62474046
GRCh38:
Chr17:64477929
MILR1, POLG2G451EPOLG2-Related DisordersLikely pathogenic
(Aug 23, 2023)
criteria provided, single submitter
17.
GRCh37:
Chr17:62474049
GRCh38:
Chr17:64477932
MILR1, POLG2N450Tnot providedUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr17:62474051-62474055
GRCh38:
Chr17:64477934-64477938
MILR1, POLG2Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4Uncertain significance
(Oct 11, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr17:62474052
GRCh38:
Chr17:64477935
MILR1, POLG2E449Anot providedUncertain significance
(Apr 6, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr17:62474054
GRCh38:
Chr17:64477937
MILR1, POLG2L448Fnot providedUncertain significance
(Jan 1, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr17:62474058
GRCh38:
Chr17:64477941
MILR1, POLG2T447Snot providedUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr17:62474059
GRCh38:
Chr17:64477942
MILR1, POLG2T447Anot providedUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr17:62474074
GRCh38:
Chr17:64477957
MILR1, POLG2L442Vnot providedUncertain significance
(Oct 30, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr17:62474079
GRCh38:
Chr17:64477962
POLG2, MILR1T440Inot providedUncertain significance
(May 21, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr17:62474081
GRCh38:
Chr17:64477964
MILR1, POLG2not providedLikely benign
(Aug 10, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr17:62474083
GRCh38:
Chr17:64477966
MILR1, POLG2F439LProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr17:62474101
GRCh38:
Chr17:64477984
MILR1, POLG2Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)Pathogenic
(Jul 16, 2021)
no assertion criteria provided
28.
GRCh37:
Chr17:62474103
GRCh38:
Chr17:64477986
POLG2, MILR1Y432Cnot providedUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr17:62474105
GRCh38:
Chr17:64477988
MILR1, POLG2K431Nnot providedLikely pathogenic
(Jul 22, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr17:62474115
GRCh38:
Chr17:64477998
MILR1, POLG2not providedLikely benign
(Sep 14, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr17:62474118
GRCh38:
Chr17:64478001
MILR1, POLG2not providedLikely benign
(Jul 13, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr17:62474398-62474400
GRCh38:
Chr17:64478281-64478283
MILR1, POLG2not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr17:62476371
GRCh38:
Chr17:64480254
POLG2, MILR1not providedLikely benign
(Dec 19, 2019)
criteria provided, single submitter
34.
GRCh37:
Chr17:62476406
GRCh38:
Chr17:64480289
MILR1, POLG2K431RPOLG2-related spectrum disorders, not providedUncertain significance
(Aug 24, 2021)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr17:62476408
GRCh38:
Chr17:64480291
MILR1, POLG2not providedLikely benign
(Mar 11, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr17:62476409
GRCh38:
Chr17:64480292
MILR1, POLG2S430Lnot providedUncertain significance
(May 13, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr17:62476416
GRCh38:
Chr17:64480299
MILR1, POLG2L428Fnot provided, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr17:62476420
GRCh38:
Chr17:64480303
MILR1, POLG2not providedLikely benign
(Jul 12, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr17:62476423
GRCh38:
Chr17:64480306
MILR1, POLG2not providedLikely benign
(Dec 28, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr17:62476425
GRCh38:
Chr17:64480308
MILR1, POLG2not providedLikely benign
(Aug 27, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr17:62476428
GRCh38:
Chr17:64480311
POLG2, MILR1S424Pnot providedUncertain significance
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr17:62476429
GRCh38:
Chr17:64480312
MILR1, POLG2not specified, not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr17:62476430
GRCh38:
Chr17:64480313
MILR1, POLG2S423Ynot specified, not providedConflicting interpretations of pathogenicity
(Oct 27, 2022)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr17:62476431
GRCh38:
Chr17:64480314
MILR1, POLG2S423Anot providedUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr17:62476433
GRCh38:
Chr17:64480316
MILR1, POLG2Q422Pnot specifiedUncertain significance
(Feb 16, 2023)
criteria provided, single submitter
46.
GRCh37:
Chr17:62476435
GRCh38:
Chr17:64480318
POLG2, MILR1M421Inot providedUncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr17:62476436
GRCh38:
Chr17:64480319
MILR1, POLG2M421Tnot providedUncertain significance
(Mar 27, 2023)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr17:62476443
GRCh38:
Chr17:64480326
MILR1, POLG2E419Knot providedUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr17:62476451
GRCh38:
Chr17:64480334
MILR1, POLG2G416Anot 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
50.
GRCh37:
Chr17:62476465
GRCh38:
Chr17:64480348
MILR1, POLG2not providedLikely benign
(Dec 1, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr17:62476479
GRCh38:
Chr17:64480362
MILR1, POLG2L407Inot providedUncertain significance
(Jun 1, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr17:62476479
GRCh38:
Chr17:64480362
MILR1, POLG2not providedLikely benign
(Jun 15, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr17:62476481
GRCh38:
Chr17:64480364
MILR1, POLG2L406Snot providedUncertain significance
(Jul 20, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr17:62476490-62476491
GRCh38:
Chr17:64480373-64480374
MILR1, POLG2Variant of unknown significanceUncertain significance
(Sep 1, 2010)
no assertion criteria provided
55.
GRCh37:
Chr17:62476491
GRCh38:
Chr17:64480374
MILR1, POLG2F403LInborn genetic diseasesUncertain significance
(Feb 6, 2023)
criteria provided, single submitter
56.
GRCh37:
Chr17:62476495
GRCh38:
Chr17:64480378
MILR1, POLG2not providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr17:62476499
GRCh38:
Chr17:64480382
MILR1, POLG2Q400Lnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr17:62476507
GRCh38:
Chr17:64480390
MILR1, POLG2not providedUncertain significance
(Jul 14, 2017)
criteria provided, single submitter
59.
GRCh37:
Chr17:62476509-62476512
GRCh38:
Chr17:64480392-64480395
MILR1, POLG2not specified, not providedConflicting interpretations of pathogenicity
(Oct 12, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr17:62476638
GRCh38:
Chr17:64480521
MILR1, POLG2not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr17:62478840
GRCh38:
Chr17:64482723
MILR1, POLG2not providedLikely benign
(Feb 24, 2019)
criteria provided, single submitter
62.
GRCh37:
Chr17:62479028-62479029
GRCh38:
Chr17:64482911-64482912
MILR1, POLG2Mitochondrial 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
63.
GRCh37:
Chr17:62479035
GRCh38:
Chr17:64482918
MILR1, POLG2not providedUncertain significance
(Sep 10, 2019)
criteria provided, single submitter
64.
GRCh37:
Chr17:62479036
GRCh38:
Chr17:64482919
MILR1, POLG2not providedUncertain significance
(Apr 3, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr17:62479036-62479039
GRCh38:
Chr17:64482919-64482922
MILR1, POLG2Q397fsnot providedPathogenic
(Mar 2, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr17:62479037
GRCh38:
Chr17:64482920
MILR1, POLG2Q397Lnot providedUncertain significance
(Mar 23, 2023)
criteria provided, single submitter
67.
GRCh37:
Chr17:62479038
GRCh38:
Chr17:64482921
POLG2, MILR1Q397Enot providedUncertain significance
(Jul 20, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr17:62479050
GRCh38:
Chr17:64482933
POLG2, MILR1not providedLikely benign
(Sep 7, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr17:62479056
GRCh38:
Chr17:64482939
MILR1, POLG2P391TInborn genetic diseases, not providedUncertain significance
(Jul 25, 2023)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr17:62479069
GRCh38:
Chr17:64482952
MILR1, POLG2D386EProgressive external ophthalmoplegia with mitochondrial DNA deletions, not provided, Hereditary spastic paraplegia
Benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr17:62479076
GRCh38:
Chr17:64482959
MILR1, POLG2A384Gnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr17:62479083
GRCh38:
Chr17:64482966
POLG2, MILR1K382Enot providedUncertain significance
(Apr 2, 2019)
criteria provided, single submitter
73.
GRCh37:
Chr17:62479086
GRCh38:
Chr17:64482969
MILR1, POLG2I381Vnot providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr17:62479097
GRCh38:
Chr17:64482980
MILR1, POLG2C377Ynot providedUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr17:62479100-62479103
GRCh38:
Chr17:64482983-64482986
MILR1, POLG2H375fsnot providedUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr17:62479107
GRCh38:
Chr17:64482990
MILR1, POLG2L374Fnot providedUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr17:62479125
GRCh38:
Chr17:64483008
MILR1, POLG2not providedLikely benign
(Oct 22, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr17:62479126
GRCh38:
Chr17:64483009
MILR1, POLG2not providedUncertain significance
(Oct 14, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr17:62479127
GRCh38:
Chr17:64483010
POLG2, MILR1not providedLikely benign
(Mar 5, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr17:62479131
GRCh38:
Chr17:64483014
POLG2, MILR1not providedLikely benign
(Jun 14, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr17:62479131-62479132
GRCh38:
Chr17:64483014-64483015
MILR1, POLG2not specified, not providedBenign/Likely benign
(Dec 14, 2021)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr17:62479133
GRCh38:
Chr17:64483016
POLG2, MILR1not providedLikely benign
(Aug 26, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr17:62479273
GRCh38:
Chr17:64483156
MILR1, POLG2not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr17:62481790
GRCh38:
Chr17:64485673
POLG2, MILR1not providedLikely benign
(Aug 14, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr17:62481801
GRCh38:
Chr17:64485684
MILR1, POLG2Mitochondrial 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
86.
GRCh37:
Chr17:62481841
GRCh38:
Chr17:64485724
POLG2, MILR1not providedUncertain significance
(May 9, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr17:62481850
GRCh38:
Chr17:64485733
POLG2, MILR1R369Gnot 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
88.
GRCh37:
Chr17:62481852
GRCh38:
Chr17:64485735
MILR1, POLG2H368Lnot providedUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr17:62481853
GRCh38:
Chr17:64485736
MILR1, POLG2H368fsnot specifiedUncertain significance
(Mar 13, 2014)
criteria provided, single submitter
90.
GRCh37:
Chr17:62481854
GRCh38:
Chr17:64485737
MILR1, POLG2not providedLikely benign
(Feb 21, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr17:62481875
GRCh38:
Chr17:64485758
MILR1, POLG2not providedLikely benign
(Jun 27, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr17:62481875
GRCh38:
Chr17:64485758
MILR1, POLG2not providedLikely benign
(Jul 3, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr17:62481878
GRCh38:
Chr17:64485761
MILR1, POLG2not providedLikely benign
(Sep 27, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr17:62481881
GRCh38:
Chr17:64485764
MILR1, POLG2not providedLikely benign
(Oct 23, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr17:62481890
GRCh38:
Chr17:64485773
MILR1, POLG2not providedLikely benign
(Apr 26, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr17:62481893
GRCh38:
Chr17:64485776
POLG2, MILR1not providedLikely benign
(Mar 8, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr17:62481924
GRCh38:
Chr17:64485807
MILR1, POLG2R344QMitochondrial DNA depletion syndrome 16 (hepatic type)Uncertain significance
(Jun 4, 2020)
criteria provided, single submitter
98.
GRCh37:
Chr17:62481925
GRCh38:
Chr17:64485808
MILR1, POLG2R344*Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4Uncertain significancecriteria provided, single submitter
99.
GRCh37:
Chr17:62481953
GRCh38:
Chr17:64485836
MILR1, POLG2C334Wnot providedUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr17:62481954
GRCh38:
Chr17:64485837
MILR1, POLG2C334Ynot providedUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
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