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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:
Chr17:37356126-43706945
GRCh38:
Chr17:39199873-45629579
AARSD1, ACBD4, ACLY, ADAM11, AOC2, AOC3, ARHGAP27, ARL4D, ASB16, ASB16-AS1, ATP6V0A1, ATXN7L3, ATXN7L3-AS1, BECN1, BRCA1, C17orf113, C1QL1, CASC3, CAVIN1, CCDC103, CCDC200, CCR10, CNP, DBF4B, FAM187A, FMNL1-DT, GHDC, GJC1, GJD3, MIR548AT, MIR548BC, MIR6510, MIR6780A, MIR6781, MIR6782, MIR6783, MIR6784, MIR6866, MIR6867, MIR6884, MLX, MPP2, MPP3, MSL1, NAGLU, NAGS, NBR1, NBR2, NEUROD2, NKIRAS2, NMT1, NR1D1, NT5C3B, ODAD4, ORMDL3, P3H4, PGAP3, PLCD3, PLEKHH3, PLEKHM1, PNMT, PPP1R1B, PPY, PSMC3IP, PSMD3, PSME3, PTGES3L, PTGES3L-AARSD1, PYY, RAB5C, RAB5C-AS1, RAMP2, RAMP2-AS1, RAPGEFL1, RARA, RARA-AS1, RETREG3, RND2, RNU2-1, RPL19, RPL27, RUNDC1, RUNDC3A, RUNDC3A-AS1, SLC25A39, SLC4A1, SMARCE1, SNORD124, SOST, SPATA32, STAC2, STARD3, STAT3, STAT5A, STAT5B, TCAP, THRA, TMEM101, TMEM106A, TMUB2, TNS4, TOP2A, TUBG1, TUBG2, UBTF, VAT1, VPS25, WIPF2, WNK4, ZNF385C, ZPBP2, GJD3-AS1, GPATCH8, GRN, GRB7, DHX58, DHX8, DNAJC7, DUSP3, FAM215A, FBXL20, FKBP10, FMNL1, FMNL1-AS1, FZD2, G6PC1, G6PC3, CCR7, CD300LG, CDC6, CDK12, CFAP97D1, GAST, CNTD1, CNTNAP1, COA3, COASY, CCDC43, CSF3, GFAP, DCAKD, EFTUD2, EIF1, ERBB2, ETV4, EZH1, FAM171A2, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEXIM1, HEXIM2, HEXIM2-AS1, HIGD1B, HROB, HSD17B1, HSD17B1-AS1, HSPB9, IFI35, IGFBP4, IKZF3, ITGA2B, JUP, KAT2A, KCNH4, KIF18B, KLHL10, KLHL11, 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, LINC00671, LINC00910, LINC00974, LINC01180, LINC01976, LINC02210, LINC02210-CRHR1, LINC02594, LOC100505782, LOC101929767, LOC102724183, LOC105371773, LOC105371789, LOC105371795, LOC105371934, LOC110120913, LOC110121446, LOC110485084, LOC110485085, LOC111089947, LOC111240475, LOC111465016, LOC111589215, LOC111589216, LOC112529913, LOC112529914, LOC112533637, LOC112533638, LOC112533639, LOC112533640, LOC112533641, LOC112533642, LOC113939962, LOC116276461, LOC116276462, LOC116276463, LOC116276464, LOC116276465, LOC116276466, LOC116276467, LOC116276468, LOC121587590, LOC121587591, LOC121587592, LOC121587593, LOC121587594, LOC121587595, LOC121587596, LOC121587597, LOC121852931, LOC121852932, LOC121852933, LOC125177467, LOC125177469, LOC125177470, LOC125177471, LOC125177472, LOC125177473, LOC125177474, LOC125177475, LOC125177476, LOC125177477, LOC125177478, LOC125177479, LOC125177480, LOC125177481, LOC125177482, LOC125177484, LOC125177485, LOC125177486, LOC125177487, LOC125177488, LOC125177489, LOC125177490, LOC125177491, LOC126862553, LOC126862554, LOC126862555, LOC126862556, LOC126862557, LOC126862558, LOC126862559, LOC126862560, LOC126862561, LOC126862562, LOC126862563, LOC126862564, LOC126862565, LOC126862566, LOC126862567, LOC126862568, LOC126862569, LOC126862570, LOC126862571, LOC126862572, LOC126862573, LOC126862574, LOC126862575, LOC128669077, LOC128669078, LOC129390868, LOC129390869, LOC129390870, LOC129390871, LOC129390872, LOC129390873, LOC129390874, LOC129390875, LOC129390876, LOC129390877, 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, LRRC3C, LSM12, MAP3K14, MAP3K14-AS1, MED1, MED24, MEIOC, MEOX1, MIEN1, MIR2117, MIR2117HG, MIR4315-1, MIR4728, MIR5010
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr17:42011535-42931393
GRCh38:
Chr17:43934167-44854025
See casesPathogenic
(Jan 5, 2011)
no assertion criteria provided
5.
GRCh38:
Chr17:44846894-44962103
not providedPathogenic
(Mar 22, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr17:42928643
GRCh38:
Chr17:44851275
EFTUD2not providedLikely pathogenic
(Jun 23, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr17:42928655
GRCh38:
Chr17:44851287
EFTUD2N934S, N969S, N959SInborn genetic diseasesLikely benign
(Oct 5, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr17:42928699
GRCh38:
Chr17:44851331
EFTUD2not providedBenign
(Sep 30, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr17:42928730
GRCh38:
Chr17:44851362
EFTUD2S909I, S934I, S944IEFTUD2-related conditionUncertain significance
(Nov 28, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr17:42929043
GRCh38:
Chr17:44851675
EFTUD2not providedBenign
(Jun 7, 2020)
criteria provided, single submitter
11.
GRCh37:
Chr17:42929060
GRCh38:
Chr17:44851692
EFTUD2not providedLikely benign
(Aug 21, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr17:42929066
GRCh38:
Chr17:44851698
EFTUD2not providedLikely benign
(Aug 27, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr17:42929070-42929071
GRCh38:
Chr17:44851702-44851703
EFTUD2not providedLikely benign
(Oct 17, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr17:42929075
GRCh38:
Chr17:44851707
EFTUD2not providedUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr17:42929077
GRCh38:
Chr17:44851709
EFTUD2Mandibulofacial dysostosis-microcephaly syndromePathogenic
(Dec 1, 2012)
no assertion criteria provided
16.
GRCh37:
Chr17:42929088
GRCh38:
Chr17:44851720
EFTUD2R903H, R928H, R938Hnot providedPathogenic
(Aug 2, 2023)
criteria provided, single submitter
17.
GRCh37:
Chr17:42929092
GRCh38:
Chr17:44851724
EFTUD2T902A, T927A, T937Anot providedUncertain significance
(Jan 26, 2023)
criteria provided, single submitter
18.
GRCh37:
Chr17:42929096
GRCh38:
Chr17:44851728
EFTUD2I900M, I935M, I925Mnot providedUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr17:42929117
GRCh38:
Chr17:44851749
EFTUD2not providedLikely benign
(Jun 19, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr17:42929131
GRCh38:
Chr17:44851763
EFTUD2Q924*, Q914*, Q889*not providedPathogenic
(Feb 3, 2020)
criteria provided, single submitter
21.
GRCh37:
Chr17:42929145-42929146
GRCh38:
Chr17:44851777-44851778
EFTUD2R884fs, R909fs, R919fsnot providedLikely pathogenic
(May 3, 2020)
criteria provided, single submitter
22.
GRCh37:
Chr17:42929170
GRCh38:
Chr17:44851802
EFTUD2P876S, P901S, P911Snot providedUncertain significance
(Nov 10, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr17:42929419
GRCh38:
Chr17:44852051
EFTUD2not providedLikely benign
(Oct 27, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr17:42929659
GRCh38:
Chr17:44852291
EFTUD2not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr17:42929754
GRCh38:
Chr17:44852386
EFTUD2not providedBenign
(Jun 8, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr17:42929759
GRCh38:
Chr17:44852391
EFTUD2not provided, not specifiedBenign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr17:42929770
GRCh38:
Chr17:44852402
EFTUD2not providedLikely benign
(Aug 15, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr17:42929791-42929794
GRCh38:
Chr17:44852423-44852426
EFTUD2V900fs, V865fs, V890fsMandibulofacial dysostosis-microcephaly syndrome, not providedPathogenic
(Jan 4, 2019)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr17:42929795
GRCh38:
Chr17:44852427
EFTUD2not providedBenign
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr17:42929799-42929803
GRCh38:
Chr17:44852431-44852435
EFTUD2S862fs, S887fs, S897fsnot providedLikely pathogenic
(Jun 17, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr17:42929818
GRCh38:
Chr17:44852450
EFTUD2Q857fs, Q882fs, Q892fsnot providedPathogenic
(Aug 11, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr17:42929819
GRCh38:
Chr17:44852451
EFTUD2not providedLikely benign
(Mar 14, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr17:42929843-42929849
GRCh38:
Chr17:44852475-44852481
EFTUD2F846fs, F871fs, F881fsMandibulofacial dysostosis-microcephaly syndromePathogenic
(Nov 15, 2019)
criteria provided, single submitter
34.
GRCh37:
Chr17:42929847
GRCh38:
Chr17:44852479
EFTUD2G847V, G872V, G882Vnot providedUncertain significance
(May 14, 2019)
criteria provided, single submitter
35.
GRCh37:
Chr17:42929858
GRCh38:
Chr17:44852490
EFTUD2not providedLikely benign
(Jul 6, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr17:42929861
GRCh38:
Chr17:44852493
EFTUD2not providedBenign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr17:42929864
GRCh38:
Chr17:44852496
EFTUD2not providedLikely benign
(Oct 12, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr17:42929865
GRCh38:
Chr17:44852497
EFTUD2P841L, P866L, P876Lnot providedConflicting interpretations of pathogenicity
(Oct 19, 2023)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr17:42929868
GRCh38:
Chr17:44852500
EFTUD2I840fs, I865fs, I875fsnot providedLikely pathogenic
(May 31, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr17:42929885
GRCh38:
Chr17:44852517
EFTUD2not providedLikely benign
(Feb 1, 2023)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr17:42929892
GRCh38:
Chr17:44852524
EFTUD2P832fs, P867fs, P857fsMandibulofacial dysostosis-microcephaly syndromePathogenic
(Oct 2, 2019)
criteria provided, single submitter
42.
GRCh37:
Chr17:42929896-42929897
GRCh38:
Chr17:44852528-44852529
EFTUD2S831fs, S866fs, S856fsInborn genetic diseasesPathogenic
(Apr 4, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr17:42929898
GRCh38:
Chr17:44852530
EFTUD2G830D, G855D, G865Dnot providedUncertain significance
(Feb 27, 2023)
criteria provided, single submitter
44.
GRCh37:
Chr17:42929901
GRCh38:
Chr17:44852533
EFTUD2P829L, P864L, P854Lnot providedUncertain significance
(Oct 18, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr17:42929924
GRCh38:
Chr17:44852556
EFTUD2not providedLikely benign
(Nov 4, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr17:42929930-42929932
GRCh38:
Chr17:44852562-44852564
EFTUD2not providedLikely pathogenic
(Mar 18, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr17:42929931-42929932
GRCh38:
Chr17:44852563-44852564
EFTUD2not provided, Mandibulofacial dysostosis-microcephaly syndromePathogenic/Likely pathogenic
(Dec 14, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr17:42929931
GRCh38:
Chr17:44852563
EFTUD2Inborn genetic diseasesPathogenic
(Jun 3, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr17:42929932
GRCh38:
Chr17:44852564
EFTUD2not provided, Mandibulofacial dysostosis-microcephaly syndromePathogenic
(Sep 15, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr17:42929970
GRCh38:
Chr17:44852602
EFTUD2not providedBenign
(Jul 3, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr17:42929985
GRCh38:
Chr17:44852617
EFTUD2not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr17:42930246
GRCh38:
Chr17:44852878
EFTUD2not providedBenign
(Aug 10, 2019)
criteria provided, single submitter
53.
GRCh37:
Chr17:42930451
GRCh38:
Chr17:44853083
EFTUD2not providedBenign
(Jul 5, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr17:42930651
GRCh38:
Chr17:44853283
EFTUD2not providedLikely benign
(Jun 15, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr17:42930657
GRCh38:
Chr17:44853289
EFTUD2not providedLikely benign
(May 21, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr17:42930670
GRCh38:
Chr17:44853302
EFTUD2R817K, R842K, R852Knot provided, Inborn genetic diseasesLikely benign
(Jul 12, 2023)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr17:42930674
GRCh38:
Chr17:44853306
EFTUD2A816fs, A841fs, A851fsMandibulofacial dysostosis-microcephaly syndromeLikely pathogenic
(Mar 31, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr17:42930681
GRCh38:
Chr17:44853313
EFTUD2not providedLikely benign
(Feb 3, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr17:42930681
GRCh38:
Chr17:44853313
EFTUD2V849fs, V839fs, V814fsnot providedPathogenic
(Nov 19, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr17:42930699
GRCh38:
Chr17:44853331
EFTUD2not providedLikely benign
(Dec 15, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr17:42930719-42930720
GRCh38:
Chr17:44853351-44853352
EFTUD2V801fs, V826fs, V836fsInborn genetic diseasesPathogenic
(Sep 15, 2014)
criteria provided, single submitter
62.
GRCh37:
Chr17:42930729
GRCh38:
Chr17:44853361
EFTUD2Y832*, Y797*, Y822*Mandibulofacial dysostosis-microcephaly syndromePathogenic
(May 4, 2012)
no assertion criteria provided
63.
GRCh37:
Chr17:42930732
GRCh38:
Chr17:44853364
EFTUD2Y831*, Y821*, Y796*Mandibulofacial dysostosis-microcephaly syndromePathogenic
(Feb 10, 2012)
no assertion criteria provided
64.
GRCh37:
Chr17:42930748
GRCh38:
Chr17:44853380
EFTUD2R791H, R816H, R826Hnot providedUncertain significance
(Dec 1, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr17:42930775
GRCh38:
Chr17:44853407
EFTUD2not providedLikely benign
(Sep 19, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr17:42930859
GRCh38:
Chr17:44853491
EFTUD2not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr17:42930876
GRCh38:
Chr17:44853508
EFTUD2not providedLikely benign
(Jan 16, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr17:42930877
GRCh38:
Chr17:44853509
EFTUD2not providedLikely benign
(Aug 5, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr17:42930884
GRCh38:
Chr17:44853516
EFTUD2not providedPathogenic
(Mar 16, 2017)
criteria provided, single submitter
70.
GRCh37:
Chr17:42930906
GRCh38:
Chr17:44853538
EFTUD2not providedLikely benign
(Sep 25, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr17:42930913
GRCh38:
Chr17:44853545
EFTUD2R813K, R803K, R778KMandibulofacial dysostosis-microcephaly syndromeUncertain significance
(Sep 1, 2017)
criteria provided, single submitter
72.
GRCh37:
Chr17:42930925
GRCh38:
Chr17:44853557
EFTUD2I774T, I799T, I809Tnot providedUncertain significance
(Oct 30, 2020)
criteria provided, single submitter
73.
GRCh37:
Chr17:42930932
GRCh38:
Chr17:44853564
EFTUD2Q797fs, Q772fs, Q807fsTracheoesophageal fistulaPathogenic
(Jul 1, 2019)
no assertion criteria provided
74.
GRCh37:
Chr17:42930944
GRCh38:
Chr17:44853576
EFTUD2R803W, R768W, R793Wnot providedUncertain significance
(May 25, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr17:42930998-42930999
GRCh38:
Chr17:44853630-44853631
EFTUD2R750fs, R775fs, R785fsInborn genetic diseasesPathogenic
(Nov 3, 2017)
criteria provided, single submitter
76.
GRCh37:
Chr17:42931017
GRCh38:
Chr17:44853649
EFTUD2not providedLikely benign
(May 25, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr17:42931596
GRCh38:
Chr17:44854228
EFTUD2not providedLikely benign
(Jul 5, 2019)
criteria provided, single submitter
78.
GRCh37:
Chr17:42931636
GRCh38:
Chr17:44854268
EFTUD2not providedPathogenic
(Jan 24, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr17:42931646
GRCh38:
Chr17:44854278
EFTUD2C745R, C770R, C780RMandibulofacial dysostosis-microcephaly syndromeUncertain significance
(Jan 5, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr17:42931649
GRCh38:
Chr17:44854281
EFTUD2L744F, L769F, L779FMandibulofacial dysostosis-microcephaly syndromeLikely pathogenic
(Aug 13, 2019)
criteria provided, single submitter
81.
GRCh37:
Chr17:42931651
GRCh38:
Chr17:44854283
EFTUD2P778H, P768H, P743Hnot providedLikely pathogenic
(Feb 17, 2017)
criteria provided, single submitter
82.
GRCh37:
Chr17:42931654
GRCh38:
Chr17:44854286
EFTUD2G742V, G767V, G777Vnot providedPathogenic
(Nov 6, 2023)
criteria provided, single submitter
83.
GRCh37:
Chr17:42931678
GRCh38:
Chr17:44854310
EFTUD2G734D, G759D, G769DInborn genetic diseasesLikely pathogenic
(Sep 25, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr17:42931685
GRCh38:
Chr17:44854317
EFTUD2V757I, V767I, V732IInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Sep 10, 2022)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr17:42931686
GRCh38:
Chr17:44854318
EFTUD2not providedLikely benign
(Jan 15, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr17:42931733
GRCh38:
Chr17:44854365
EFTUD2not providedUncertain significance
(Mar 28, 2023)
criteria provided, single submitter
87.
GRCh37:
Chr17:42931734
GRCh38:
Chr17:44854366
EFTUD2not providedLikely benign
(Jul 30, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr17:42931744
GRCh38:
Chr17:44854376
EFTUD2not providedBenign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr17:42931754
GRCh38:
Chr17:44854386
EFTUD2not providedBenign
(Nov 25, 2020)
criteria provided, single submitter
90.
GRCh37:
Chr17:42931763
GRCh38:
Chr17:44854395
EFTUD2not providedLikely benign
(Oct 27, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr17:42931785-42931787
GRCh38:
Chr17:44854417-44854419
EFTUD2not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr17:42931893
GRCh38:
Chr17:44854525
EFTUD2not providedLikely benign
(Sep 21, 2020)
criteria provided, single submitter
93.
GRCh37:
Chr17:42931954
GRCh38:
Chr17:44854586
EFTUD2not providedLikely benign
(May 27, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr17:42931965
GRCh38:
Chr17:44854597
EFTUD2T740S, T730S, T705Snot providedBenign
(Jan 13, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr17:42931966
GRCh38:
Chr17:44854598
EFTUD2not providedLikely benign
(Feb 23, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr17:42931975
GRCh38:
Chr17:44854607
EFTUD2not providedLikely benign
(Feb 1, 2023)
criteria provided, single submitter
97.
GRCh37:
Chr17:42931984
GRCh38:
Chr17:44854616
EFTUD2W698*, W723*, W733*Mandibulofacial dysostosis-microcephaly syndromePathogenic
(Aug 22, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr17:42931985
GRCh38:
Chr17:44854617
EFTUD2W733*, W698*, W723*Mandibulofacial dysostosis-microcephaly syndromePathogenic
(Jan 21, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr17:42931999
GRCh38:
Chr17:44854631
EFTUD2not providedLikely benign
(Feb 10, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr17:42932011
GRCh38:
Chr17:44854643
EFTUD2W689C, W714C, W724Cnot providedUncertain significance
(Feb 8, 2023)
criteria provided, single submitter
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