| - GRCh37:
- Chr17:57595736-73049225
- GRCh38:
- Chr17:36449220-75053130
| AARSD1, AATF, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCA9-AS1, ABCC3, ABI3, ACACA, ACBD4, ACE, ACLY, ACSF2, ADAM11, AKAP1, AMZ2, ANKFN1, ANKRD40, ANKRD40CL, AOC2, AOC3, APOH, APPBP2, APPBP2-DT, ARHGAP23, ARHGAP27, ARL17A, ARL17B, ARL4D, ARL5C, ARSG, ASB16, ASB16-AS1, ATP5MC1, ATP5PD, ATP6V0A1, ATXN7L3, ATXN7L3-AS1, AXIN2, B4GALNT2, BCAS3, BECN1, BPTF, BRCA1, 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, LOC126862621, LOC126862622, LOC126862623, LOC126862624, LOC126862625, LOC126862626, LOC126862627, LOC126862628, LOC126862629, LOC126862630, LOC126862631, LOC126862632, LOC126862633, LOC126862634, LOC126862635, LOC126862636, LOC128669077, LOC128669078, 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, MIR1273E, MIR142, 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, 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, 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, PPM1D, PPM1E, PPP1R1B, PPP1R9B, 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, 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, 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, VEZF1, VMP1, VPS25, WFIKKN2, WIPF2, WIPI1, WNK4, WNT3, WNT9B, XYLT2, YPEL2, ZNF385C, ZNF652, ZNF652-AS1, ZNHIT3, ZPBP2, BRIP1, BTBD17, C17orf113, C17orf47, C17orf58, C17orf67, C17orf78, C17orf80, C17orf98, 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, FAM104A, FAM117A, FAM171A2, FAM187A, FAM20A, FAM215A, FAM215B, FBXL20, FBXO47, FDXR, FKBP10, FLJ40194, FLJ45513, FMNL1, FMNL1-DT, FTSJ3, FZD2, G6PC1, G6PC3, GAST, GDPD1, GFAP, GGNBP2, GH-LCR, GH1, GH2, GHDC, GIP, GJC1, GJD3, GNA13, GNGT2, GOSR2, GPATCH8, GPR142, GPR179, GPRC5C, GRB7, GRIN2C, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEATR6, HEATR6-DT, HELZ, HELZ-AS1, HEXIM1, HEXIM2, 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, LOC100134391, LOC100287808, LOC100505782, LOC100507002, LOC101927166, LOC101927539, LOC101927557, LOC101927855, LOC101928251, LOC101928343, LOC101929767, LOC102723517, LOC102724183, LOC105371763, LOC105371789, LOC105371795, LOC105371814, LOC105371824, LOC105371855, LOC105371880, 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 | | See cases | Pathogenic (Apr 21, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr17:48563237-65936105
- GRCh38:
- Chr17:36449220-68170214
| AARSD1, AATF, ABCC3, ABI3, ACACA, ACBD4, ACE, ACLY, ACSF2, ADAM11, AKAP1, 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, BECN1, BPTF, BRCA1, BRIP1, C17orf113, C17orf47, C17orf58, C17orf67, C17orf78, C17orf98, 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-DT, FTSJ3, FZD2, G6PC1, G6PC3, GAST, GDPD1, GFAP, GGNBP2, GH-LCR, GH1, GH2, GHDC, GIP, GJC1, GJD3, GNA13, GNGT2, GOSR2, GPATCH8, GPR179, GRB7, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEATR6, HEATR6-DT, HELZ, HELZ-AS1, HEXIM1, HEXIM2, 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, KIF18B, 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, 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, LOC100287808, LOC100505782, LOC100507002, LOC101927166, LOC101927539, LOC101927557, LOC101927855, LOC101929767, LOC102724183, LOC105371763, LOC105371789, LOC105371795, LOC105371814, LOC105371824, LOC105371855, 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, 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, MIR1273E, MIR142, 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, PPM1D, PPM1E, PPP1R1B, PPP1R9B, PPY, PRAC1, PRAC2, 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, 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, TEX14, TBX2, TBX2-AS1, TBX21, TBX4, TCAP, 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 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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, CCDC43, CCR10, CCR7, CD300LG, CDC6, CDK12, CFAP97D1, CNP, CNTD1, CNTNAP1, COA3, COASY, CSF3, DBF4B, DCAKD, DHX58, DHX8, DNAJC7, DUSP3, EFTUD2, EIF1, ERBB2, ETV4, EZH1, FAM171A2, FAM187A, FAM215A, FBXL20, FKBP10, FMNL1, FMNL1-DT, FZD2, G6PC1, G6PC3, GAST, GFAP, GHDC, GJC1, GJD3, GPATCH8, GRB7, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEXIM1, HEXIM2, 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, LOC105371789, LOC105371795, 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, LRRC3C, LSM12, MAP3K14, MAP3K14-AS1, MED1, MED24, MEIOC, MEOX1, MIEN1, MIR2117, MIR2117HG, MIR4315-1, MIR4728, MIR5010, 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 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42011535-42931393
- GRCh38:
- Chr17:43934167-44854025
| ADAM11, ASB16, ASB16-AS1, ATXN7L3, ATXN7L3-AS1, CCDC43, DBF4B, EFTUD2, FAM171A2, FZD2, G6PC3, GJC1, GPATCH8, GRN, HDAC5, HIGD1B, HROB, ITGA2B, LINC01180, LINC01976, LOC102724183, LOC105371789, LOC112533641, LOC116276466, LOC116276467, LOC116276468, LOC121587595, LOC121852932, LOC125177486, LOC125177487, LOC125177488, LOC125177489, LOC126862572, LOC126862573, LOC126862574, LSM12, MEIOC, MIR6782, NAGS, PPY, PYY, RUNDC3A, RUNDC3A-AS1, SLC25A39, SLC4A1, TMEM101, TMUB2, UBTF | | See cases | Pathogenic (Jan 5, 2011) | no assertion criteria provided |
| - GRCh38:
- Chr17:44846894-44962103
| C1QL1, CCDC103, EFTUD2, FAM187A, GFAP, HIGD1B, KIF18B, MIR6783 | | not provided | Pathogenic (Mar 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42928643
- GRCh38:
- Chr17:44851275
| EFTUD2 | | not provided | Likely pathogenic (Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42928655
- GRCh38:
- Chr17:44851287
| EFTUD2 | N934S, N969S, N959S | Inborn genetic diseases | Likely benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42928699
- GRCh38:
- Chr17:44851331
| EFTUD2 | | not provided | Benign (Sep 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929043
- GRCh38:
- Chr17:44851675
| EFTUD2 | | not provided | Benign (Jun 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929060
- GRCh38:
- Chr17:44851692
| EFTUD2 | | not provided | Likely benign (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929066
- GRCh38:
- Chr17:44851698
| EFTUD2 | | not provided | Likely benign (Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929070-42929071
- GRCh38:
- Chr17:44851702-44851703
| EFTUD2 | | not provided | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929075
- GRCh38:
- Chr17:44851707
| EFTUD2 | | not provided | Uncertain significance (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929077
- GRCh38:
- Chr17:44851709
| EFTUD2 | | Mandibulofacial dysostosis-microcephaly syndrome | Pathogenic (Dec 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr17:42929088
- GRCh38:
- Chr17:44851720
| EFTUD2 | R903H, R928H, R938H | not provided | Pathogenic (Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929096
- GRCh38:
- Chr17:44851728
| EFTUD2 | I900M, I935M, I925M | not provided | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929117
- GRCh38:
- Chr17:44851749
| EFTUD2 | | not provided | Likely benign (Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929131
- GRCh38:
- Chr17:44851763
| EFTUD2 | Q924*, Q914*, Q889* | not provided | Pathogenic (Feb 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929145-42929146
- GRCh38:
- Chr17:44851777-44851778
| EFTUD2 | R884fs, R909fs, R919fs | not provided | Likely pathogenic (May 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929419
- GRCh38:
- Chr17:44852051
| EFTUD2 | | not provided | Likely benign (Oct 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929659
- GRCh38:
- Chr17:44852291
| EFTUD2 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929754
- GRCh38:
- Chr17:44852386
| EFTUD2 | | not provided | Benign (Jun 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929759
- GRCh38:
- Chr17:44852391
| EFTUD2 | | not specified, not provided | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:42929770
- GRCh38:
- Chr17:44852402
| EFTUD2 | | not provided | Likely benign (Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929791-42929794
- GRCh38:
- Chr17:44852423-44852426
| EFTUD2 | V900fs, V865fs, V890fs | Mandibulofacial dysostosis-microcephaly syndrome, not provided | Pathogenic (Jan 4, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:42929795
- GRCh38:
- Chr17:44852427
| EFTUD2 | | not provided | Benign (Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:42929799-42929803
- GRCh38:
- Chr17:44852431-44852435
| EFTUD2 | S862fs, S887fs, S897fs | not provided | Likely pathogenic (Jun 17, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929818
- GRCh38:
- Chr17:44852450
| EFTUD2 | Q857fs, Q882fs, Q892fs | not provided | Pathogenic (Aug 11, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929819
- GRCh38:
- Chr17:44852451
| EFTUD2 | | not provided | Likely benign (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929847
- GRCh38:
- Chr17:44852479
| EFTUD2 | G847V, G872V, G882V | not provided | Uncertain significance (May 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929858
- GRCh38:
- Chr17:44852490
| EFTUD2 | | not provided | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929861
- GRCh38:
- Chr17:44852493
| EFTUD2 | | not provided | Benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:42929864
- GRCh38:
- Chr17:44852496
| EFTUD2 | | not provided | Likely benign (Oct 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929865
- GRCh38:
- Chr17:44852497
| EFTUD2 | P841L, P866L, P876L | not provided | Conflicting interpretations of pathogenicity (Aug 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:42929868
- GRCh38:
- Chr17:44852500
| EFTUD2 | I840fs, I865fs, I875fs | not provided | Likely pathogenic (May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929885
- GRCh38:
- Chr17:44852517
| EFTUD2 | | not provided | Likely benign (Nov 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:42929892
- GRCh38:
- Chr17:44852524
| EFTUD2 | P832fs, P867fs, P857fs | Mandibulofacial dysostosis-microcephaly syndrome | Pathogenic (Oct 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929896-42929897
- GRCh38:
- Chr17:44852528-44852529
| EFTUD2 | S831fs, S866fs, S856fs | Inborn genetic diseases | Pathogenic (Apr 4, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929901
- GRCh38:
- Chr17:44852533
| EFTUD2 | P829L, P864L, P854L | not provided | Uncertain significance (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929924
- GRCh38:
- Chr17:44852556
| EFTUD2 | | not provided | Likely benign (Nov 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929930-42929932
- GRCh38:
- Chr17:44852562-44852564
| EFTUD2 | | not provided | Likely pathogenic (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929931-42929932
- GRCh38:
- Chr17:44852563-44852564
| EFTUD2 | | Mandibulofacial dysostosis-microcephaly syndrome | Pathogenic/Likely pathogenic (Jan 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:42929931
- GRCh38:
- Chr17:44852563
| EFTUD2 | | Inborn genetic diseases | Pathogenic (Jun 3, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929932
- GRCh38:
- Chr17:44852564
| EFTUD2 | | Mandibulofacial dysostosis-microcephaly syndrome, not provided | Pathogenic (Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:42929970
- GRCh38:
- Chr17:44852602
| EFTUD2 | | not provided | Benign (Jul 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42929985
- GRCh38:
- Chr17:44852617
| EFTUD2 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930246
- GRCh38:
- Chr17:44852878
| EFTUD2 | | not provided | Benign (Aug 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930451
- GRCh38:
- Chr17:44853083
| EFTUD2 | | not provided | Benign (Jul 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930651
- GRCh38:
- Chr17:44853283
| EFTUD2 | | not provided | Likely benign (Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930657
- GRCh38:
- Chr17:44853289
| EFTUD2 | | not provided | Likely benign (May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930670
- GRCh38:
- Chr17:44853302
| EFTUD2 | R817K, R842K, R852K | not provided | Likely benign (Mar 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930674
- GRCh38:
- Chr17:44853306
| EFTUD2 | A816fs, A841fs, A851fs | Mandibulofacial dysostosis-microcephaly syndrome | Likely pathogenic (Mar 31, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930681
- GRCh38:
- Chr17:44853313
| EFTUD2 | | not provided | Likely benign (Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930681
- GRCh38:
- Chr17:44853313
| EFTUD2 | V849fs, V839fs, V814fs | not provided | Pathogenic (Nov 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930699
- GRCh38:
- Chr17:44853331
| EFTUD2 | | not provided | Likely benign (Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930719-42930720
- GRCh38:
- Chr17:44853351-44853352
| EFTUD2 | V801fs, V826fs, V836fs | Inborn genetic diseases | Pathogenic (Sep 15, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930729
- GRCh38:
- Chr17:44853361
| EFTUD2 | Y832*, Y797*, Y822* | Mandibulofacial dysostosis-microcephaly syndrome | Pathogenic (May 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr17:42930732
- GRCh38:
- Chr17:44853364
| EFTUD2 | Y831*, Y821*, Y796* | Mandibulofacial dysostosis-microcephaly syndrome | Pathogenic (Feb 10, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr17:42930748
- GRCh38:
- Chr17:44853380
| EFTUD2 | R791H, R816H, R826H | not provided | Uncertain significance (Dec 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930775
- GRCh38:
- Chr17:44853407
| EFTUD2 | | not provided | Likely benign (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930859
- GRCh38:
- Chr17:44853491
| EFTUD2 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930876
- GRCh38:
- Chr17:44853508
| EFTUD2 | | not provided | Likely benign (Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930877
- GRCh38:
- Chr17:44853509
| EFTUD2 | | not provided | Likely benign (Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930884
- GRCh38:
- Chr17:44853516
| EFTUD2 | | not provided | Pathogenic (Mar 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930906
- GRCh38:
- Chr17:44853538
| EFTUD2 | | not provided | Likely benign (Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930913
- GRCh38:
- Chr17:44853545
| EFTUD2 | R813K, R803K, R778K | Mandibulofacial dysostosis-microcephaly syndrome | Uncertain significance (Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930925
- GRCh38:
- Chr17:44853557
| EFTUD2 | I774T, I799T, I809T | not provided | Uncertain significance (Oct 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930932
- GRCh38:
- Chr17:44853564
| EFTUD2 | Q797fs, Q772fs, Q807fs | Tracheoesophageal fistula | Pathogenic (Jul 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr17:42930944
- GRCh38:
- Chr17:44853576
| EFTUD2 | R803W, R768W, R793W | not provided | Uncertain significance (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42930998-42930999
- GRCh38:
- Chr17:44853630-44853631
| EFTUD2 | R750fs, R775fs, R785fs | Inborn genetic diseases | Pathogenic (Nov 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931017
- GRCh38:
- Chr17:44853649
| EFTUD2 | | not provided | Likely benign (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931596
- GRCh38:
- Chr17:44854228
| EFTUD2 | | not provided | Likely benign (Jul 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931636
- GRCh38:
- Chr17:44854268
| EFTUD2 | | not provided | Pathogenic (Jan 24, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931646
- GRCh38:
- Chr17:44854278
| EFTUD2 | C745R, C770R, C780R | Mandibulofacial dysostosis-microcephaly syndrome | Uncertain significance (Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931649
- GRCh38:
- Chr17:44854281
| EFTUD2 | L744F, L769F, L779F | Mandibulofacial dysostosis-microcephaly syndrome | Likely pathogenic (Aug 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931651
- GRCh38:
- Chr17:44854283
| EFTUD2 | P778H, P768H, P743H | not provided | Likely pathogenic (Feb 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931678
- GRCh38:
- Chr17:44854310
| EFTUD2 | G734D, G759D, G769D | Inborn genetic diseases | Likely pathogenic (Sep 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931685
- GRCh38:
- Chr17:44854317
| EFTUD2 | V757I, V767I, V732I | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity (Sep 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:42931686
- GRCh38:
- Chr17:44854318
| EFTUD2 | | not provided | Likely benign (Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931734
- GRCh38:
- Chr17:44854366
| EFTUD2 | | not provided | Likely benign (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931744
- GRCh38:
- Chr17:44854376
| EFTUD2 | | not provided | Benign (Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:42931754
- GRCh38:
- Chr17:44854386
| EFTUD2 | | not provided | Benign (Nov 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931763
- GRCh38:
- Chr17:44854395
| EFTUD2 | | not provided | Likely benign (Oct 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931785-42931787
- GRCh38:
- Chr17:44854417-44854419
| EFTUD2 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931893
- GRCh38:
- Chr17:44854525
| EFTUD2 | | not provided | Likely benign (Sep 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931954
- GRCh38:
- Chr17:44854586
| EFTUD2 | | not provided | Likely benign (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931965
- GRCh38:
- Chr17:44854597
| EFTUD2 | T740S, T730S, T705S | not provided | Benign (Jan 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931966
- GRCh38:
- Chr17:44854598
| EFTUD2 | | not provided | Likely benign (Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931984
- GRCh38:
- Chr17:44854616
| EFTUD2 | W698*, W723*, W733* | Mandibulofacial dysostosis-microcephaly syndrome | Pathogenic (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931985
- GRCh38:
- Chr17:44854617
| EFTUD2 | W733*, W698*, W723* | Mandibulofacial dysostosis-microcephaly syndrome | Pathogenic (Jan 21, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42931999
- GRCh38:
- Chr17:44854631
| EFTUD2 | | not provided | Likely benign (Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42932017
- GRCh38:
- Chr17:44854649
| EFTUD2 | Y687*, Y712*, Y722* | Mandibulofacial dysostosis-microcephaly syndrome | Likely pathogenic (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42932038
- GRCh38:
- Chr17:44854670
| EFTUD2 | | not provided | Uncertain significance (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42932052
- GRCh38:
- Chr17:44854684
| EFTUD2 | | Mandibulofacial dysostosis-microcephaly syndrome | Likely pathogenic (Oct 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42932071
- GRCh38:
- Chr17:44854703
| EFTUD2 | | not provided | Benign (Nov 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42932191
- GRCh38:
- Chr17:44854823
| EFTUD2 | | not provided | Likely benign (Dec 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42932193
- GRCh38:
- Chr17:44854825
| EFTUD2 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42932244
- GRCh38:
- Chr17:44854876
| EFTUD2 | | not provided | Benign (Jul 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42932246
- GRCh38:
- Chr17:44854878
| EFTUD2 | | not provided | Benign (Nov 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:42932266
- GRCh38:
- Chr17:44854898
| EFTUD2 | | not provided | Benign/Likely benign (Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |