5979[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1529981.	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 GRCh37: Chr10:4646926-47531169 GRCh38: Chr10:4604734-48074662	ABI1, ACBD5, ACBD7, ACBD7-DCLRE1CP1, AGAP10, AGAP4, AGAP9, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1C8, AKR1E2, ALOX5, ANKRD16, ANKRD26, ANKRD30A, ANTXRL, ANXA8, ANXA8L1, APBB1IP, ARHGAP12, ARHGAP21, ARL5B, ARMC3, ASB13, ATP5F1C, BAMBI, BEND7, BEND7-DT, BMI1, BMS1, C10orf113, C10orf126, C10orf67, C10orf67-AS1, C1QL3, CACNB2, CALML3, CALML3-AS1, CALML5, CAMK1D, CCDC3, CCDC7, CCNY, CDC123, CDNF, CELF2, CELF2-AS1, CELF2-AS2, CELF2-DT, COMMD3, COMMD3-BMI1, CREM, CSGALNACT2, CSGALNACT2-DT, CUBN, CUL2, CXCL12, DCLRE1C, DEPP1, DHTKD1, DNAJC1, EBLN1, ECHDC3, ENKUR, EPC1, EPC1-AS1, FAM107B, FAM171A1, FAM238A, FAM238B, FAM238C, FAM245B, FAM25C, FAM25E, FAM25G, FBH1, FRMD4A, FXYD4, FZD8, GAD2, GATA3, GATA3-AS1, GDF10, GDF2, GDI2, GJD4, GPR158, GPR158-AS1, GPRIN2, HACD1, HNRNPF, HSPA14, IATPR, IL15RA, IL2RA, ITGA8, ITGB1, ITGB1-DT, ITIH2, ITIH5, JCAD, KIAA1217, KIF5B, KIN, LASTR, LINC00619, LINC00705, LINC00706, LINC00707, LINC00708, LINC00709, LINC00710, LINC00836, LINC00837, LINC00838, LINC00839, LINC00840, LINC00841, LINC00842, LINC00993, LINC00999, LINC01264, LINC01516, LINC01517, LINC01518, LINC02561, LINC02623, LINC02628, LINC02629, LINC02630, LINC02632, LINC02634, LINC02637, LINC02642, LINC02643, LINC02644, LINC02648, LINC02649, LINC02652, LINC02654, LINC02656, LINC02658, LINC02659, LINC02664, LINC02665, LINC02670, LINC02673, LINC02676, LINC02677, LINC02678, LINC02881, LINC02916, LINC03027, LINC03028, LINC03029, LINP1, LOC100130992, LOC100505502, LOC101928051, LOC101928272, LOC101928453, LOC101928834, LOC101929073, LOC101929279, LOC101929431, LOC102724323, LOC102724593, LOC105376384, LOC105376387, LOC105376390, LOC105376398, LOC105376420, LOC105378269, LOC105378289, LOC105378577, LOC106736614, LOC106783505, LOC106783576, LOC107001062, LOC107275222, LOC107275223, LOC107275226, LOC108004524, LOC108353817, LOC108353819, LOC108903148, LOC108903149, LOC110121348, LOC110121355, LOC110121399, LOC110121405, LOC110121406, LOC110121476, LOC110121478, LOC110121502, LOC110121503, LOC110121506, LOC110121507, LOC111464994, LOC111501766, LOC111589212, LOC111818964, LOC111818965, LOC111818966, LOC111818967, LOC111946222, LOC111946223, LOC111946224, LOC111946225, LOC111946226, LOC111946227, LOC111946228, LOC111946229, LOC111946230, LOC111946231, LOC111946232, LOC111946234, LOC111946236, LOC111946237, LOC111946238, LOC111946239, LOC111946241, LOC111946242, LOC111946244, LOC111946245, LOC111946246, LOC111946251, LOC111946252, LOC114827857, LOC116216107, LOC116216108, LOC116216109, LOC116216110, LOC116216111, LOC116216112, LOC121366038, LOC121366039, LOC121366040, LOC121366041, LOC121366042, LOC121366043, LOC121366044, LOC121366045, LOC121366046, LOC121366047, LOC121366048, LOC121366049, LOC121366050, LOC121366051, LOC121366052, LOC121366053, LOC121366054, LOC121811723, LOC121811724, LOC121811725, LOC121811726, LOC121811727, LOC121811728, LOC121811729, LOC121811730, LOC124403905, LOC124403906, LOC124403907, LOC124403908, LOC124403909, LOC124403910, LOC124403911, LOC124403912, LOC124403913, LOC124403914, LOC124403915, LOC124403916, LOC124403917, LOC124403918, LOC124403919, LOC124403920, LOC124403921, LOC124403922, LOC124403923, LOC124403924, LOC124403925, LOC124403926, LOC124403927, LOC124403928, LOC124403929, LOC124403930, LOC124403931, LOC124403932, LOC124403933, LOC124403934, LOC124403935, LOC124403936, LOC124403937, LOC124403938, LOC124403939, LOC124403940, LOC124403941, LOC124403942, LOC124403943, LOC124403944, LOC124403945, LOC124403946, LOC124403948, LOC124403949, LOC126860845, LOC126860846, LOC126860847, LOC126860848, LOC126860849, LOC126860850, LOC126860851, LOC126860852, LOC126860853, LOC126860854, LOC126860855, LOC126860856, LOC126860857, LOC126860858, LOC126860859, LOC126860860, LOC126860861, LOC126860862, LOC126860863, LOC126860864, LOC126860865, LOC126860866, LOC126860867, LOC126860868, LOC126860869, LOC126860870, LOC126860871, LOC126860872, LOC126860873, LOC126860874, LOC126860875, LOC126860876, LOC126860877, LOC126860878, LOC126860879, LOC126860880, LOC126860881, LOC126860882, LOC126860883, LOC126860884, LOC126860885, LOC126860886, LOC126860887, LOC126860888, LOC126860889, LOC126860890, LOC126860891, LOC126860892, LOC126860893, LOC126860894, LOC126860895, LOC126860896, LOC126860897, LOC126860898, LOC126860899, LOC126860900, LOC126860901, LOC126860902, LOC126860903, LOC126860904, LOC126860905, LOC126860906, LOC126860907, LOC126860908, LOC126860909, LOC126860910, LOC126860911, LOC126860912, LOC126860913, LOC126860914, LOC126860915, LOC126860916, LOC126860917, LOC126860918, LOC126860919, LOC126860920, LOC126860921, LOC126860922, LOC126860923, LOC126860924, LOC126860925, LOC126860926, LOC126860927, LOC126860928, LOC126860929, LOC128462383, LOC128462384, LOC128462385, LOC128462386, LOC128462408, LOC283028, LYZL1, LYZL2, MACORIS, MALRD1, MANCR, MAP3K8, MARCHF8, MASTL, MCM10, MCS+9.7, MEIG1, MINDY3, MIR1265, MIR1915, MIR1915HG, MIR3155A, MIR3155B, MIR3156-1, MIR3611, MIR4293, MIR4480, MIR4481, MIR4675, MIR4683, MIR5100, MIR511, MIR548AK, MIR548Q, MIR603, MIR604, MIR7162, MIR8086, MIR938, MKX, MKX-AS1, MLLT10, MPP7, MRC1, MSANTD7, MSMB, MSRB2, MTPAP, MTRNR2L7, MYO3A, NCOA4, NEBL, NEBL-AS1, NET1, NMT2, NPY4R, NPY4R2, NRP1, NSUN6, NUDT5, ODAD2, OLAH, OPTN, OR13A1, OTUD1, PARD3, PARD3-DT, PCAT5, PDSS1, PFKFB3, PHYH, PIP4K2A, PLXDC2, PRINS, PRKCQ, PRKCQ-AS1, PROSER2, PROSER2-AS1, PRPF18, PRTFDC1, PTCHD3, PTER, PTF1A, PTPN20, RAB18, RASGEF1A, RASSF4, RBM17, RBP3, RET, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SKIDA1, SLC39A12, SLC39A12-AS1, SNORA74C-1, SNORA86, SNORD129, SNORD130, SNORD3J, SPAG6, ST8SIA6, ST8SIA6-AS1, STAM, STAM-DT, SUV39H2, SUV39H2-DT, SVIL, SVIL-AS1, SYT15, SYT15-AS1, SYT15B, TAF3, TASOR2, THNSL1, TIMM23, TMEM236, TMEM72, TMEM72-AS1, TRDMT1, TRN-GTT2-3, TRV-TAC3-1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, USP6NL-AS1, VIM, VIM-AS1, WAC, WAC-AS1, WASHC2C, YME1L1, ZEB1, ZEB1-AS1, ZFAND4, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF32-AS1, ZNF32-AS2, ZNF32-AS3, ZNF33A, ZNF33B, ZNF37A, ZNF438, ZNF485, ZNF487, ZNF488		See cases	Benign (Feb 4, 2013)	no assertion criteria provided
Select item 1549002.	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 GRCh37: Chr10:42607635-69160433 GRCh38: Chr10:42112187-67400675	LOC121366055, LOC121366056, LOC121366057, LOC121811730, LOC121815939, LOC121815940, LOC121815941, LOC121815942, LOC124403943, LOC124403944, LOC124403945, LOC124403946, LOC124403948, LOC124403949, LOC124403950, LOC124403951, LOC124403952, LOC124403953, LOC124403954, LOC124403955, LOC124403956, LOC124403957, LOC124403958, LOC124403959, LOC124403960, LOC124403961, LOC124403962, LOC124403963, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC126860919, LOC126860920, LOC126860921, LOC126860922, LOC126860923, LOC126860924, LOC126860925, LOC126860926, LOC126860927, LOC126860928, LOC126860929, LOC126860930, LOC126860931, LOC126860932, LOC126860933, LOC126860934, LOC126860935, LOC126860936, LOC126860937, LOC126860938, LOC126860939, LOC126860940, LOC126860941, LOC126860942, LOC126860943, LOC126860944, LOC126860945, LOC126860946, LOC126860947, LOC126860948, LOC283028, LOC283045, LRRC18, LRRTM3, MAPK8, MARCHF8, MBL2, MCS+9.7, MIR1296, MIR3156-1, MIR3924, MIR4294, MIR5100, MIR548F1, MIR605, MRLN, MSMB, MTRNR2L5, NCOA4, NPY4R, NPY4R2, NRBF2, OGDHL, OR13A1, PARG, PCDH15, PGBD3, PHYHIPL, PRKG1, PRKG1-AS1, PTPN20, RASGEF1A, RASSF4, RBP3, REEP3, RET, RHOBTB1, RTKN2, SGMS1, SGMS1-AS1, SLC16A9, SLC18A3, SNORA74C-1, SNORA74C-2, SNORD3J, SYT15, SYT15-AS1, SYT15B, TFAM, TIMM23, TIMM23B, TIMM23B-AGAP6, TMEM26, TMEM26-AS1, TMEM273, TMEM72, TMEM72-AS1, UBE2D1, VSTM4, WASHC2A, WASHC2C, WDFY4, ZFAND4, ZNF22, ZNF22-AS1, ZNF239, ZNF32, ZNF32-AS1, ZNF32-AS2, ZNF32-AS3, ZNF33B, ZNF365, ZNF485, ZNF487, ZNF488, ZWINT, A1CF, ADO, AGAP10, AGAP4, AGAP6, AGAP9, ALOX5, ANK3, ANK3-DT, ANTXRL, ANXA8, ANXA8L1, ARHGAP22, ARHGAP22-IT1, ARID5B, ASAH2, ASAH2B, BICC1, BMS1, C10orf53, C10orf71, C10orf71-AS1, CABCOCO1, CCDC6, CCEPR, CDK1, CHAT, CISD1, CSGALNACT2, CSGALNACT2-DT, CSTF2T, CTNNA3, CXCL12, DEPP1, DKK1, DRGX, EGR2, ERCC6, FAM13C, FAM170B, FAM170B-AS1, FAM245B, FAM25C, FAM25E, FAM25G, FRMPD2, FXYD4, GDF10, GDF2, GPRIN2, HNRNPF, IPMK, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, LINC00619, LINC00839, LINC00840, LINC00841, LINC00842, LINC00844, LINC00845, LINC01264, LINC01515, LINC01518, LINC01553, LINC02621, LINC02623, LINC02632, LINC02637, LINC02658, LINC02659, LINC02671, LINC02672, LINC02881, LINC02916, LINC03029, LNCAROD, LOC101928961, LOC102724323, LOC102724593, LOC102724719, LOC105378269, LOC105378289, LOC105378305, LOC105378311, LOC105378328, LOC105378577, LOC106736614, LOC107001062, LOC107984236, LOC110121478, LOC110121502, LOC110121503, LOC110121506, LOC110121507, LOC111818966, LOC111818967, LOC111946237, LOC111946238, LOC111946239, LOC111946240, LOC111946243, LOC111946244, LOC111946247, LOC111946248, LOC111946249, LOC112268068, LOC113939916, LOC114827857, LOC116216113, LOC121366050, LOC121366051, LOC121366052, LOC121366053, LOC121366054		See cases	Pathogenic (Aug 20, 2012)	no assertion criteria provided
Select item 1454793.	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 GRCh37: Chr10:42890649-52636819 GRCh38: Chr10:42395201-50877059	A1CF, AGAP10, AGAP4, AGAP6, AGAP9, ALOX5, ANTXRL, ANXA8, ANXA8L1, ARHGAP22, ARHGAP22-IT1, ASAH2, ASAH2B, BMS1, C10orf53, C10orf71, C10orf71-AS1, CHAT, CSGALNACT2, CSGALNACT2-DT, CXCL12, DEPP1, DRGX, ERCC6, FAM170B, FAM170B-AS1, FAM245B, FAM25C, FAM25E, FAM25G, FRMPD2, FXYD4, GDF10, GDF2, GPRIN2, HNRNPF, LINC00619, LINC00839, LINC00840, LINC00841, LINC00842, LINC01264, LINC01518, LINC02623, LINC02632, LINC02637, LINC02658, LINC02659, LINC02881, LINC02916, LINC03029, LOC102724323, LOC102724593, LOC105378269, LOC105378289, LOC105378577, LOC106736614, LOC107001062, LOC110121478, LOC110121502, LOC110121503, LOC110121506, LOC110121507, LOC111818966, LOC111818967, LOC111946237, LOC111946238, LOC111946239, LOC111946240, LOC111946243, LOC111946244, LOC113939916, LOC114827857, LOC121366050, LOC121366051, LOC121366052, LOC121366053, LOC121366054, LOC121366055, LOC121811730, LOC124403943, LOC124403944, LOC124403945, LOC124403946, LOC124403948, LOC124403949, LOC124403950, LOC124403951, LOC124403952, LOC124403953, LOC124403954, LOC124403955, LOC126860919, LOC126860920, LOC126860921, LOC126860922, LOC126860923, LOC126860924, LOC126860925, LOC126860926, LOC126860927, LOC126860928, LOC126860929, LOC126860930, LOC126860931, LOC126860932, LOC126860933, LOC283028, LRRC18, MAPK8, MARCHF8, MCS+9.7, MIR3156-1, MIR4294, MIR5100, MSMB, NCOA4, NPY4R, NPY4R2, OGDHL, OR13A1, PARG, PGBD3, PTPN20, RASGEF1A, RASSF4, RBP3, RET, SGMS1, SGMS1-AS1, SLC18A3, SNORA74C-1, SNORA74C-2, SNORD3J, SYT15, SYT15-AS1, SYT15B, TIMM23, TIMM23B, TIMM23B-AGAP6, TMEM273, TMEM72, TMEM72-AS1, VSTM4, WASHC2A, WASHC2C, WDFY4, ZFAND4, ZNF22, ZNF22-AS1, ZNF239, ZNF32, ZNF32-AS1, ZNF32-AS2, ZNF32-AS3, ZNF33B, ZNF485, ZNF487, ZNF488		See cases	Pathogenic (Sep 30, 2010)	no assertion criteria provided
Select item 1480364.	GRCh38/hg38 10q11.21(chr10:42395216-43234240)x3 GRCh37: Chr10:42890664-43729688 GRCh38: Chr10:42395216-43234240	BMS1, CSGALNACT2, CSGALNACT2-DT, LINC00839, LINC01264, LINC01518, LINC02623, LINC02632, LOC105378269, LOC106736614, LOC110121502, LOC110121503, LOC110121506, LOC110121507, LOC111946237, LOC124403943, LOC124403944, LOC126860919, LOC283028, MCS+9.7, MIR5100, RASGEF1A, RET, ZNF33B		See cases	Uncertain significance (Dec 22, 2010)	no assertion criteria provided
Select item 1454815.	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 GRCh37: Chr10:43180754-75475666 GRCh38: Chr10:42685306-73715908	SLC18A3, SLC25A16, SLC29A3, SNORA11F, SNORA74C-1, SNORA74C-2, SNORD3J, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, SYT15, SYT15-AS1, SYT15B, TACR2, TBATA, TET1, TFAM, TIMM23, TIMM23B, TIMM23B-AGAP6, TMEM26, TMEM26-AS1, TMEM273, TMEM72, TMEM72-AS1, TRS-TGA1-1, TSPAN15, TYSND1, UBE2D1, UNC5B, UNC5B-AS1, USP54, VPS26A, VSIR, VSTM4, WASHC2A, WASHC2C, WDFY4, ZFAND4, ZNF22, ZNF22-AS1, ZNF239, ZNF32, ZNF32-AS1, ZNF32-AS2, ZNF32-AS3, ZNF365, ZNF485, ZNF487, ZNF488, ZWINT, A1CF, ADAMTS14, ADO, AGAP10, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, ALOX5, ANAPC16, ANK3, ANK3-DT, ANTXRL, ANXA7, ANXA8, ANXA8L1, ARHGAP22, ARHGAP22-IT1, ARID5B, ASAH2, ASAH2B, ASCC1, ATOH7, BICC1, BMS1, C10orf105, C10orf53, C10orf71, C10orf71-AS1, CABCOCO1, CCAR1, CCDC6, CCEPR, CDH23, CDH23-AS1, CDK1, CFAP70, CHAT, CHST3, CISD1, COL13A1, CSGALNACT2, CSGALNACT2-DT, CSTF2T, CTNNA3, CXCL12, DDIT4, DDX21, DDX50, DEPP1, DKK1, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DRGX, ECD, EGR2, EIF4EBP2, ERCC6, FAM13C, FAM149B1, FAM170B, FAM170B-AS1, FAM241B, FAM245B, FAM25C, FAM25E, FAM25G, FRMPD2, FXYD4, GDF10, GDF2, GPRIN2, HERC4, HK1, HKDC1, HNRNPF, HNRNPH3, IPMK, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KIFBP, LINC00619, LINC00840, LINC00841, LINC00842, LINC00844, LINC00845, LINC01264, LINC01515, LINC01518, LINC01553, LINC02621, LINC02622, LINC02623, LINC02632, LINC02636, LINC02637, LINC02651, LINC02658, LINC02659, LINC02671, LINC02672, LINC02881, LINC02916, LINC03029, LNCAROD, LOC101928961, LOC101928994, LOC102724323, LOC102724593, LOC102724719, LOC105378269, LOC105378289, LOC105378305, LOC105378311, LOC105378328, LOC105378577, LOC106736614, LOC107001062, LOC107832851, LOC107984236, LOC108178982, LOC110121478, LOC110121502, LOC110121503, LOC110121506, LOC110121507, LOC111365158, LOC111365196, LOC111818966, LOC111818967, LOC111946237, LOC111946238, LOC111946239, LOC111946240, LOC111946243, LOC111946244, LOC111946247, LOC111946248, LOC111946249, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC112268068, LOC113939916, LOC114827857, LOC116216113, LOC116216114, LOC120807611, LOC121366050, LOC121366051, LOC121366052, LOC121366053, LOC121366054, LOC121366055, LOC121366056, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121811730, LOC121815939, LOC121815940, LOC121815941, LOC121815942, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC124403944, LOC124403945, LOC124403946, LOC124403948, LOC124403949, LOC124403950, LOC124403951, LOC124403952, LOC124403953, LOC124403954, LOC124403955, LOC124403956, LOC124403957, LOC124403958, LOC124403959, LOC124403960, LOC124403961, LOC124403962, LOC124403963, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC126860919, LOC126860920, LOC126860921, LOC126860922, LOC126860923, LOC126860924, LOC126860925, LOC126860926, LOC126860927, LOC126860928, LOC126860929, LOC126860930, LOC126860931, LOC126860932, LOC126860933, LOC126860934, LOC126860935, LOC126860936, LOC126860937, LOC126860938, LOC126860939, LOC126860940, LOC126860941, LOC126860942, LOC126860943, LOC126860944, LOC126860945, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC283028, LOC283045, LRRC18, LRRC20, LRRTM3, MACROH2A2, MAPK8, MARCHF8, MBL2, MCS+9.7, MCU, MICU1, MIR1296, MIR3156-1, MIR3924, MIR4294, MIR4676, MIR5100, MIR548F1, MIR605, MIR7151, MIR7152, MRLN, MRPS16, MSMB, MSS51, MTRNR2L5, MYOZ1, MYPN, NCOA4, NEUROG3, NODAL, NPFFR1, NPY4R, NPY4R2, NRBF2, NUDT13, OGDHL, OIT3, OR13A1, P4HA1, PALD1, PARG, PBLD, PCBD1, PCDH15, PGBD3, PHYHIPL, PLA2G12B, PPA1, PPP3CB, PPP3CB-AS1, PRF1, PRKG1, PRKG1-AS1, PSAP, PTPN20, RASGEF1A, RASSF4, RBP3, REEP3, RET, RHOBTB1, RTKN2, RUFY2, SAR1A, SGMS1, SGMS1-AS1, SGPL1, SIRT1, SLC16A9		See cases	Pathogenic (Sep 30, 2010)	no assertion criteria provided
Select item 1449776.	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 GRCh37: Chr10:43379742-54025077 GRCh38: Chr10:42884294-52265317	A1CF, AGAP10, AGAP4, AGAP6, AGAP9, ALOX5, ANTXRL, ANXA8, ANXA8L1, ARHGAP22, ARHGAP22-IT1, ASAH2, ASAH2B, C10orf53, C10orf71, C10orf71-AS1, CHAT, CSGALNACT2, CSGALNACT2-DT, CSTF2T, CXCL12, DEPP1, DRGX, ERCC6, FAM170B, FAM170B-AS1, FAM245B, FAM25C, FAM25E, FAM25G, FRMPD2, FXYD4, GDF10, GDF2, GPRIN2, HNRNPF, LINC00619, LINC00840, LINC00841, LINC00842, LINC01264, LINC02637, LINC02658, LINC02659, LINC02881, LINC02916, LINC03029, LOC102724323, LOC102724593, LOC102724719, LOC105378289, LOC105378577, LOC106736614, LOC107001062, LOC110121478, LOC110121502, LOC110121503, LOC110121506, LOC110121507, LOC111818966, LOC111818967, LOC111946237, LOC111946238, LOC111946239, LOC111946240, LOC111946243, LOC111946244, LOC113939916, LOC114827857, LOC121366050, LOC121366051, LOC121366052, LOC121366053, LOC121366054, LOC121366055, LOC121811730, LOC124403945, LOC124403946, LOC124403948, LOC124403949, LOC124403950, LOC124403951, LOC124403952, LOC124403953, LOC124403954, LOC124403955, LOC124403956, LOC124403957, LOC126860919, LOC126860920, LOC126860921, LOC126860922, LOC126860923, LOC126860924, LOC126860925, LOC126860926, LOC126860927, LOC126860928, LOC126860929, LOC126860930, LOC126860931, LOC126860932, LOC126860933, LRRC18, MAPK8, MARCHF8, MCS+9.7, MIR3156-1, MIR4294, MIR5100, MIR605, MSMB, NCOA4, NPY4R, NPY4R2, OGDHL, OR13A1, PARG, PGBD3, PRKG1, PTPN20, RASGEF1A, RASSF4, RBP3, RET, SGMS1, SGMS1-AS1, SLC18A3, SNORA74C-1, SNORA74C-2, SNORD3J, SYT15, SYT15-AS1, SYT15B, TIMM23, TIMM23B, TIMM23B-AGAP6, TMEM273, TMEM72, TMEM72-AS1, VSTM4, WASHC2A, WASHC2C, WDFY4, ZFAND4, ZNF22, ZNF22-AS1, ZNF239, ZNF32, ZNF32-AS1, ZNF32-AS2, ZNF32-AS3, ZNF485, ZNF487, ZNF488		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 11868657.	Single allele GRCh37: Chr10:43572180 GRCh38: Chr10:43076732	LOC106736614, RET		not provided	Likely benign (Feb 24, 2019)	criteria provided, single submitter
Select item 12507598.	Single allele GRCh37: Chr10:43572296 GRCh38: Chr10:43076848	LOC106736614, RET		not provided	Benign (May 6, 2019)	criteria provided, single submitter
Select item 11955069.	Single allele GRCh37: Chr10:43572426 GRCh38: Chr10:43076978	LOC106736614, RET		not provided	Likely benign (Apr 1, 2020)	criteria provided, single submitter
Select item 3672110.	NM_020630.5(RET):c.-234_-230dup GRCh37: Chr10:43572458-43572459 GRCh38: Chr10:43077010-43077011	LOC106736614, RET		Multiple endocrine neoplasia, type 2a	Uncertain significance (Aug 18, 2011)	criteria provided, single submitter
Select item 118924211.	Single allele GRCh37: Chr10:43572481 GRCh38: Chr10:43077033	LOC106736614, RET		not provided	Likely benign (Jun 21, 2018)	criteria provided, single submitter
Select item 36889812.	NM_020630.5(RET):c.-200A>G GRCh37: Chr10:43572507 GRCh38: Chr10:43077059	LOC106736614, RET		Hirschsprung Disease, Dominant, Renal hypodysplasia/aplasia 1, Pheochromocytoma, Multiple endocrine neoplasia, not provided	Benign (Jun 24, 2018)	criteria provided, multiple submitters, no conflicts
Select item 36889913.	NM_020975.5(RET):c.-196C>A GRCh37: Chr10:43572511 GRCh38: Chr10:43077063	LOC106736614, RET		not provided, Hirschsprung Disease, Dominant, Multiple endocrine neoplasia, Renal hypodysplasia/aplasia 1, Pheochromocytoma	Benign/Likely benign (Jun 15, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29988314.	NM_020975.6(RET):c.-187C>A GRCh37: Chr10:43572520 GRCh38: Chr10:43077072	LOC106736614, RET		Multiple endocrine neoplasia, Hirschsprung Disease, Dominant, Pheochromocytoma, Renal hypodysplasia/aplasia 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 87768415.	NM_020975.6(RET):c.-173A>G GRCh37: Chr10:43572534 GRCh38: Chr10:43077086	LOC106736614, RET		Pheochromocytoma, Renal hypodysplasia/aplasia 1, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87768516.	NM_020975.6(RET):c.-160G>T GRCh37: Chr10:43572547 GRCh38: Chr10:43077099	LOC106736614, RET		Renal hypodysplasia/aplasia 1, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia	Benign/Likely benign (Jul 18, 2017)	criteria provided, single submitter
Select item 29988417.	NM_020975.6(RET):c.-158G>A GRCh37: Chr10:43572549 GRCh38: Chr10:43077101	LOC106736614, RET		Multiple endocrine neoplasia, Pheochromocytoma, Renal hypodysplasia/aplasia 1, Hirschsprung disease, susceptibility to, 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29988518.	NM_020975.6(RET):c.-132G>T GRCh37: Chr10:43572575 GRCh38: Chr10:43077127	LOC106736614, RET		Multiple endocrine neoplasia, Pheochromocytoma, Hereditary cancer-predisposing syndrome, Renal hypodysplasia/aplasia 1, Hirschsprung disease, susceptibility to, 1	Conflicting interpretations of pathogenicity (Jun 1, 2021)	criteria provided, conflicting interpretations
Select item 122570819.	NM_020975.6(RET):c.-68C>T GRCh37: Chr10:43572639 GRCh38: Chr10:43077191	LOC106736614, RET		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 87871020.	NM_020975.6(RET):c.-51C>T GRCh37: Chr10:43572656 GRCh38: Chr10:43077208	LOC106736614, RET		Hirschsprung disease, susceptibility to, 1, Renal hypodysplasia/aplasia 1, Pheochromocytoma, Multiple endocrine neoplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 47737421.	NM_020975.6(RET):c.-37G>C GRCh37: Chr10:43572670 GRCh38: Chr10:43077222	RET, LOC106736614		not provided, Multiple endocrine neoplasia, type 2	Conflicting interpretations of pathogenicity (Feb 19, 2022)	criteria provided, conflicting interpretations
Select item 66283922.	NC_000010.10:g.(?_43572697)_(43623727_?)dup GRCh37: Chr10:43572697-43623727 GRCh38: Chr10:43077249-43128279	LOC106736614, LOC110121502, MCS+9.7, RET		Multiple endocrine neoplasia, type 2	Uncertain significance (Apr 3, 2019)	criteria provided, single submitter
Select item 175663723.	NM_020975.6(RET):c.-7_-4del GRCh37: Chr10:43572700-43572703 GRCh38: Chr10:43077252-43077255	LOC106736614, RET		Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 132169124.	NM_020975.6(RET):c.-6C>T GRCh37: Chr10:43572701 GRCh38: Chr10:43077253	LOC106736614, RET		not provided	Uncertain significance (May 13, 2021)	criteria provided, single submitter
Select item 47729925.	NC_000010.10:g.(?_43572701)_(43623723_?)dup GRCh37: Chr10:43572701-43623723 GRCh38: Chr10:43077253-43128275	LOC106736614, LOC110121502, MCS+9.7, RET		Multiple endocrine neoplasia, type 2	Uncertain significance (Mar 7, 2017)	criteria provided, single submitter
Select item 244752426.	NM_020975.6(RET):c.2_7dup (p.Ala2_Lys3insMetAla) GRCh37: Chr10:43572702-43572703 GRCh38: Chr10:43077254-43077255	LOC106736614, RET		Hereditary cancer-predisposing syndrome	Likely benign (Jan 5, 2023)	criteria provided, single submitter
Select item 175101527.	NM_020975.6(RET):c.-5G>C GRCh37: Chr10:43572702 GRCh38: Chr10:43077254	LOC106736614, RET		Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 2, 2020)	criteria provided, single submitter
Select item 82535928.	NM_020975.6(RET):c.-4G>A GRCh37: Chr10:43572703 GRCh38: Chr10:43077255	LOC106736614, RET		Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 173690729.	NM_020975.6(RET):c.-3G>A GRCh37: Chr10:43572704 GRCh38: Chr10:43077256	LOC106736614, RET		Hereditary cancer-predisposing syndrome	Uncertain significance (Dec 4, 2020)	criteria provided, single submitter
Select item 22920130.	NM_020975.6(RET):c.-2C>A GRCh37: Chr10:43572705 GRCh38: Chr10:43077257	LOC106736614, RET		Hereditary cancer-predisposing syndrome, not provided, Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, not specified	Conflicting interpretations of pathogenicity (May 6, 2022)	criteria provided, conflicting interpretations
Select item 178421031.	NM_020975.6(RET):c.-1G>A GRCh37: Chr10:43572706 GRCh38: Chr10:43077258	LOC106736614, RET		Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 17, 2020)	criteria provided, single submitter
Select item 102084332.	NM_020975.6(RET):c.5_28dup (p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla) GRCh37: Chr10:43572708-43572709 GRCh38: Chr10:43077260-43077261	LOC106736614, RET		Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, not specified	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 76754833.	NM_020975.6(RET):c.6G>A (p.Ala2=) GRCh37: Chr10:43572712 GRCh38: Chr10:43077264	LOC106736614, RET		Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Likely benign (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58456634.	NM_020975.6(RET):c.7A>G (p.Lys3Glu) GRCh37: Chr10:43572713 GRCh38: Chr10:43077265	LOC106736614, RET	K3E	Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102386635.	NM_020975.6(RET):c.10G>A (p.Ala4Thr) GRCh37: Chr10:43572716 GRCh38: Chr10:43077268	LOC106736614, RET	A4T	Multiple endocrine neoplasia, type 2	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 86022536.	NM_020975.6(RET):c.11C>T (p.Ala4Val) GRCh37: Chr10:43572717 GRCh38: Chr10:43077269	LOC106736614, RET	A4V	Multiple endocrine neoplasia, type 2	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 177175337.	NM_020975.6(RET):c.13A>G (p.Thr5Ala) GRCh37: Chr10:43572719 GRCh38: Chr10:43077271	RET, LOC106736614	T5A	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148637938.	NM_020975.6(RET):c.14C>T (p.Thr5Met) GRCh37: Chr10:43572720 GRCh38: Chr10:43077272	LOC106736614, RET	T5M	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84015339.	NM_020975.6(RET):c.14C>G (p.Thr5Arg) GRCh37: Chr10:43572720 GRCh38: Chr10:43077272	LOC106736614, RET	T5R	Multiple endocrine neoplasia, type 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 196294940.	NM_020975.6(RET):c.15G>A (p.Thr5=) GRCh37: Chr10:43572721 GRCh38: Chr10:43077273	LOC106736614, RET		Multiple endocrine neoplasia, type 2	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 177616141.	NM_020975.6(RET):c.15G>T (p.Thr5=) GRCh37: Chr10:43572721 GRCh38: Chr10:43077273	LOC106736614, RET		Hereditary cancer-predisposing syndrome	Likely benign (Oct 6, 2019)	criteria provided, single submitter
Select item 81961342.	NM_020975.6(RET):c.15G>C (p.Thr5=) GRCh37: Chr10:43572721 GRCh38: Chr10:43077273	LOC106736614, RET		Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome	Likely benign (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101176043.	NM_020975.6(RET):c.16T>C (p.Ser6Pro) GRCh37: Chr10:43572722 GRCh38: Chr10:43077274	LOC106736614, RET	S6P	Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 65512544.	NM_020975.6(RET):c.16T>G (p.Ser6Ala) GRCh37: Chr10:43572722 GRCh38: Chr10:43077274	LOC106736614, RET	S6A	Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 178226745.	NM_020975.6(RET):c.18C>G (p.Ser6=) GRCh37: Chr10:43572724 GRCh38: Chr10:43077276	LOC106736614, RET		Hereditary cancer-predisposing syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 178226246.	NM_020975.6(RET):c.18C>A (p.Ser6=) GRCh37: Chr10:43572724 GRCh38: Chr10:43077276	LOC106736614, RET		Hereditary cancer-predisposing syndrome	Likely benign (Dec 26, 2019)	criteria provided, single submitter
Select item 47733147.	NM_020975.6(RET):c.18C>T (p.Ser6=) GRCh37: Chr10:43572724 GRCh38: Chr10:43077276	LOC106736614, RET		Multiple endocrine neoplasia, type 2, not provided, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 100122148.	NM_020975.6(RET):c.19G>A (p.Gly7Ser) GRCh37: Chr10:43572725 GRCh38: Chr10:43077277	LOC106736614, RET	G7S	Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 140684149.	NM_020975.6(RET):c.20G>T (p.Gly7Val) GRCh37: Chr10:43572726 GRCh38: Chr10:43077278	LOC106736614, RET	G7V	Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 48631350.	NM_020975.6(RET):c.20G>A (p.Gly7Asp) GRCh37: Chr10:43572726 GRCh38: Chr10:43077278	LOC106736614, RET	G7D	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, not provided, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1	Uncertain significance (Sep 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 256837251.	NM_020975.6(RET):c.21T>C (p.Gly7=) GRCh37: Chr10:43572727 GRCh38: Chr10:43077279	LOC106736614, RET		Hereditary cancer-predisposing syndrome	Likely benign (May 23, 2023)	criteria provided, single submitter
Select item 84226852.	NM_020975.6(RET):c.22G>T (p.Ala8Ser) GRCh37: Chr10:43572728 GRCh38: Chr10:43077280	LOC106736614, RET	A8S	Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179071253.	NM_020975.6(RET):c.23C>T (p.Ala8Val) GRCh37: Chr10:43572729 GRCh38: Chr10:43077281	LOC106736614, RET	A8V	Hereditary cancer-predisposing syndrome	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 179221554.	NM_020975.6(RET):c.24C>T (p.Ala8=) GRCh37: Chr10:43572730 GRCh38: Chr10:43077282	LOC106736614, RET		Hereditary cancer-predisposing syndrome	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 179619955.	NM_020975.6(RET):c.27G>C (p.Ala9=) GRCh37: Chr10:43572733 GRCh38: Chr10:43077285	LOC106736614, RET		Hereditary cancer-predisposing syndrome	Likely benign (Oct 5, 2021)	criteria provided, single submitter
Select item 179619456.	NM_020975.6(RET):c.27G>A (p.Ala9=) GRCh37: Chr10:43572733 GRCh38: Chr10:43077285	LOC106736614, RET		Hereditary cancer-predisposing syndrome	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 142657357.	NM_020975.6(RET):c.29G>C (p.Gly10Ala) GRCh37: Chr10:43572735 GRCh38: Chr10:43077287	LOC106736614, RET	G10A	Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 106184258.	NM_020975.6(RET):c.35_55dup (p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu) GRCh37: Chr10:43572735-43572736 GRCh38: Chr10:43077287-43077288	LOC106736614, RET		Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Uncertain significance (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105389459.	NM_020975.6(RET):c.35_52dup (p.Leu17_Leu18insArgLeuLeuLeuLeuLeu) GRCh37: Chr10:43572735-43572736 GRCh38: Chr10:43077287-43077288	LOC106736614, RET		Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103579460.	NM_020975.6(RET):c.29G>A (p.Gly10Glu) GRCh37: Chr10:43572735 GRCh38: Chr10:43077287	LOC106736614, RET	G10E	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93633761.	NM_020975.6(RET):c.29G>T (p.Gly10Val) GRCh37: Chr10:43572735 GRCh38: Chr10:43077287	LOC106736614, RET	G10V	Multiple endocrine neoplasia, type 2	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 66215462.	NM_020975.6(RET):c.30G>T (p.Gly10=) GRCh37: Chr10:43572736 GRCh38: Chr10:43077288	LOC106736614, RET		Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 47736563.	NM_020975.6(RET):c.30G>A (p.Gly10=) GRCh37: Chr10:43572736 GRCh38: Chr10:43077288	LOC106736614, RET		Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome	Likely benign (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48631664.	NM_020975.6(RET):c.31C>A (p.Leu11Met) GRCh37: Chr10:43572737 GRCh38: Chr10:43077289	LOC106736614, RET	L11M	Hereditary cancer-predisposing syndrome, not specified, Multiple endocrine neoplasia, type 2	Conflicting interpretations of pathogenicity (Sep 19, 2022)	criteria provided, conflicting interpretations
Select item 47736865.	NM_020975.6(RET):c.31C>T (p.Leu11=) GRCh37: Chr10:43572737 GRCh38: Chr10:43077289	LOC106736614, RET		Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2	Likely benign (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13611766.	NM_020975.6(RET):c.31C>G (p.Leu11Val) GRCh37: Chr10:43572737 GRCh38: Chr10:43077289	LOC106736614, RET	L11V	Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 135205167.	NM_020975.6(RET):c.34C>G (p.Arg12Gly) GRCh37: Chr10:43572740 GRCh38: Chr10:43077292	RET	R12G	Multiple endocrine neoplasia, type 2	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 151072668.	NM_020975.6(RET):c.35G>A (p.Arg12His) GRCh37: Chr10:43572741 GRCh38: Chr10:43077293	RET	R12H	Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 6, 2021)	criteria provided, single submitter
Select item 82477269.	NM_020975.6(RET):c.43_51dup (p.Leu19_Pro20insLeuLeuLeu) GRCh37: Chr10:43572742-43572743 GRCh38: Chr10:43077294-43077295	RET		Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 94395770.	NM_020975.6(RET):c.40_41insGGTTGC (p.Leu13_Leu14insArgLeu) GRCh37: Chr10:43572743-43572744 GRCh38: Chr10:43077295-43077296	RET		Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 58043371.	NM_020975.6(RET):c.43_51del (p.Leu17_Leu19del) GRCh37: Chr10:43572743-43572751 GRCh38: Chr10:43077295-43077303	RET		Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Sep 25, 2021)	criteria provided, conflicting interpretations
Select item 193247472.	NM_020975.6(RET):c.39G>C (p.Leu13=) GRCh37: Chr10:43572745 GRCh38: Chr10:43077297	RET		Multiple endocrine neoplasia, type 2	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 173687673.	NM_020975.6(RET):c.39G>A (p.Leu13=) GRCh37: Chr10:43572745 GRCh38: Chr10:43077297	RET		Hereditary cancer-predisposing syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 173785174.	NM_020975.6(RET):c.41_43delinsGGTTGCTGC (p.Leu13_Leu14insArgLeu) GRCh37: Chr10:43572747-43572749 GRCh38: Chr10:43077299-43077301	RET		Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 29, 2020)	criteria provided, single submitter
Select item 147201375.	NM_020975.6(RET):c.41T>C (p.Leu14Pro) GRCh37: Chr10:43572747 GRCh38: Chr10:43077299	RET	L14P	Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 138832976.	NM_020975.6(RET):c.43_44insGGC (p.Leu14_Leu15insTrp) GRCh37: Chr10:43572749-43572750 GRCh38: Chr10:43077301-43077302	RET		Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 136734977.	NM_020975.6(RET):c.44TGC[7] (p.Leu19_Pro20insLeuLeu) GRCh37: Chr10:43572749-43572750 GRCh38: Chr10:43077301-43077302	RET		Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Dec 23, 2022)	criteria provided, conflicting interpretations
Select item 111220378.	NM_020975.6(RET):c.43T>C (p.Leu15=) GRCh37: Chr10:43572749 GRCh38: Chr10:43077301	RET		Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Likely benign (Aug 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 64845379.	NM_020975.6(RET):c.44TGC[6] (p.Leu19_Pro20insLeu) GRCh37: Chr10:43572749-43572750 GRCh38: Chr10:43077301-43077302	RET		Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Conflicting interpretations of pathogenicity (Jun 15, 2022)	criteria provided, conflicting interpretations
Select item 21672880.	NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu) GRCh37: Chr10:43572749-43572750 GRCh38: Chr10:43077301-43077302	RET		not provided, not specified, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a	Conflicting interpretations of pathogenicity (Feb 27, 2023)	criteria provided, conflicting interpretations
Select item 245413481.	NM_020975.6(RET):c.44TGC[2] (p.Leu17_Leu19del) GRCh37: Chr10:43572750-43572758 GRCh38: Chr10:43077302-43077310	RET		Hereditary cancer-predisposing syndrome	Likely benign (Dec 23, 2022)	criteria provided, single submitter
Select item 174179482.	NM_020975.6(RET):c.45dup (p.Leu16fs) GRCh37: Chr10:43572750-43572751 GRCh38: Chr10:43077302-43077303	RET	L16fs	Hereditary cancer-predisposing syndrome	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 142761383.	NM_020975.6(RET):c.44T>C (p.Leu15Ser) GRCh37: Chr10:43572750 GRCh38: Chr10:43077302	RET	L15S	Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 83592084.	NM_020975.6(RET):c.44TGC[3] (p.Leu18_Leu19del) GRCh37: Chr10:43572750-43572755 GRCh38: Chr10:43077302-43077307	RET		Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 54374985.	NM_020975.6(RET):c.44TGC[4] (p.Leu19del) GRCh37: Chr10:43572762-43572764 GRCh38: Chr10:43077302-43077304	RET	L19del	Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Jan 27, 2022)	criteria provided, conflicting interpretations
Select item 23305286.	NM_020975.6(RET):c.45G>A (p.Leu15=) GRCh37: Chr10:43572751 GRCh38: Chr10:43077303	RET		not provided, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Likely benign (Sep 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47737687.	NM_020975.6(RET):c.46C>T (p.Leu16=) GRCh37: Chr10:43572752 GRCh38: Chr10:43077304	RET		Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57265588.	NM_020975.6(RET):c.47T>A (p.Leu16Gln) GRCh37: Chr10:43572753 GRCh38: Chr10:43077305	RET	L16Q	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Uncertain significance (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174396989.	NM_020975.6(RET):c.48G>A (p.Leu16=) GRCh37: Chr10:43572754 GRCh38: Chr10:43077306	RET		Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome	Likely benign (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174466190.	NM_020975.6(RET):c.49C>A (p.Leu17Met) GRCh37: Chr10:43572755 GRCh38: Chr10:43077307	RET	L17M	Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 76264691.	NM_020975.6(RET):c.49C>T (p.Leu17=) GRCh37: Chr10:43572755 GRCh38: Chr10:43077307	RET		Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103958492.	NM_020975.6(RET):c.50T>C (p.Leu17Pro) GRCh37: Chr10:43572756 GRCh38: Chr10:43077308	RET	L17P	Multiple endocrine neoplasia, type 2, Breast carcinoma, Family history of cancer	Uncertain significance (Jan 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24136493.	NM_020975.6(RET):c.57_65dup (p.Leu22_Gly23insProLeuLeu) GRCh37: Chr10:43572756-43572757 GRCh38: Chr10:43077308-43077309	RET		Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Uncertain significance (Apr 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 76067894.	NM_020975.6(RET):c.51G>A (p.Leu17=) GRCh37: Chr10:43572757 GRCh38: Chr10:43077309	RET		Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Likely benign (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109028595.	NM_020975.6(RET):c.52C>T (p.Leu18=) GRCh37: Chr10:43572758 GRCh38: Chr10:43077310	RET		Multiple endocrine neoplasia, type 2	Likely benign (Jun 17, 2020)	criteria provided, single submitter
Select item 148099496.	NM_020975.6(RET):c.53T>C (p.Leu18Pro) GRCh37: Chr10:43572759 GRCh38: Chr10:43077311	RET	L18P	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174795897.	NM_020975.6(RET):c.54G>A (p.Leu18=) GRCh37: Chr10:43572760 GRCh38: Chr10:43077312	RET		Hereditary cancer-predisposing syndrome	Likely benign (Feb 7, 2022)	criteria provided, single submitter
Select item 174854998.	NM_020975.6(RET):c.55C>A (p.Leu19Met) GRCh37: Chr10:43572761 GRCh38: Chr10:43077313	RET	L19M	Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 210765799.	NM_020975.6(RET):c.56T>C (p.Leu19Pro) GRCh37: Chr10:43572762 GRCh38: Chr10:43077314	RET	L19P	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Uncertain significance (Dec 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 423618100.	NM_020975.6(RET):c.59_61dup (p.Pro20_Leu21insPro) GRCh37: Chr10:43572762-43572763 GRCh38: Chr10:43077314-43077315	RET		Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts

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