| - GRCh37:
- Chr10:52489127-88906961
- GRCh38:
- Chr10:50729367-87147204
| LOC126860963, LOC126860964, LOC126860965, LOC126860966, LOC126860967, LOC126860968, LOC126860969, LOC126860970, LOC126860971, LOC126860972, LOC126860973, LOC126860974, LOC126860975, LOC126860976, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC128462378, LOC128462379, LOC128462381, LOC128462387, LOC128462388, LOC128462389, LOC128462390, LOC128462391, LOC128462398, LOC128462399, LOC128462400, LOC128462401, LOC128462402, LOC128462403, LOC128462404, LOC128462405, LOC128462406, LOC128462407, LOC129390170, LOC129390171, LOC129390172, LOC129390173, LOC129390174, LOC129390175, LOC129390176, LOC129390177, LOC129390178, LOC129390179, LOC129390180, LOC129390181, LOC129390182, LOC129390183, LOC129390184, LOC129390185, LOC129390186, LOC129390187, LOC129390188, LOC129390189, LOC129390190, LOC129390191, LOC129390192, LOC129390193, LOC129390194, LOC129390195, LOC129390196, LOC129390197, LOC129390198, LOC129390199, LOC129390200, LOC129390201, LOC129390202, LOC129390203, LOC129390204, LOC129390205, LOC129390206, LOC129390207, LOC129390208, LOC129390209, LOC129390210, LOC129390211, LOC129390212, LOC130003835, LOC130003836, LOC130003837, LOC130003838, LOC130003839, LOC130003840, LOC130003841, LOC130003842, LOC130003843, LOC130003844, LOC130003845, LOC130003846, LOC130003847, LOC130003848, LOC130003849, LOC130003850, LOC130003851, LOC130003852, LOC130003853, LOC130003854, LOC130003855, LOC130003856, LOC130003857, LOC130003858, LOC130003859, LOC130003860, LOC130003861, LOC130003862, LOC130003863, LOC130003864, LOC130003865, LOC130003866, LOC130003867, LOC130003868, LOC130003869, LOC130003870, LOC130003871, LOC130003872, LOC130003873, LOC130003874, LOC130003875, LOC130003876, LOC130003877, LOC130003878, LOC130003879, LOC130003880, LOC130003881, LOC130003882, LOC130003883, LOC130003884, LOC130003885, LOC130003886, LOC130003887, LOC130003888, LOC130003889, LOC130003890, LOC130003891, LOC130003892, LOC130003893, LOC130003894, LOC130003895, LOC130003896, LOC130003897, LOC130003898, LOC130003899, LOC130003900, LOC130003901, LOC130003902, LOC130003903, LOC130003904, LOC130003905, LOC130003906, LOC130003907, LOC130003908, LOC130003909, LOC130003910, LOC130003911, LOC130003912, LOC130003913, LOC130003914, LOC130003915, LOC130003916, LOC130003917, LOC130003918, LOC130003919, LOC130003920, LOC130003921, LOC130003922, LOC130003923, LOC130003924, LOC130003925, LOC130003926, LOC130003927, LOC130003928, LOC130003929, LOC130003930, LOC130003931, LOC130003932, LOC130003933, LOC130003934, LOC130003935, LOC130003936, LOC130003937, LOC130003938, LOC130003939, LOC130003940, LOC130003941, LOC130003942, LOC130003943, LOC130003944, LOC130003945, LOC130003946, LOC130003947, LOC130003948, LOC130003949, LOC130003950, LOC130003951, LOC130003952, LOC130003953, LOC130003954, LOC130003955, LOC130003956, LOC130003957, LOC130003958, LOC130003959, LOC130003960, LOC130003961, LOC130003962, LOC130003963, LOC130003964, LOC130003965, LOC130003966, LOC130003967, LOC130003968, LOC130003969, LOC130003970, LOC130003971, LOC130003972, LOC130003973, LOC130003974, LOC130003975, LOC130003976, LOC130003977, LOC130003978, LOC130003979, LOC130003980, LOC130003981, LOC130003982, LOC130003983, LOC130003984, LOC130003985, LOC130003986, LOC130003987, LOC130003988, LOC130003989, LOC130003990, LOC130003991, LOC130003992, LOC130003993, LOC130003994, LOC130003995, LOC130003996, LOC130003997, LOC130003998, LOC130003999, LOC130004000, LOC130004001, LOC130004002, LOC130004003, LOC130004004, LOC130004005, LOC130004006, LOC130004007, LOC130004008, LOC130004009, LOC130004010, LOC130004011, LOC130004012, LOC130004013, LOC130004014, LOC130004015, LOC130004016, LOC130004017, LOC130004018, LOC130004019, LOC130004020, LOC130004021, LOC130004022, LOC130004023, LOC130004024, LOC130004025, LOC130004026, LOC130004027, LOC130004028, LOC130004029, LOC130004030, LOC130004031, LOC130004032, LOC130004033, LOC130004034, LOC130004035, LOC130004036, LOC130004037, LOC130004038, LOC130004039, LOC130004040, LOC130004041, LOC130004042, LOC130004043, LOC130004044, LOC130004045, LOC130004046, LOC130004047, LOC130004048, LOC130004049, LOC130004050, LOC130004051, LOC130004052, LOC130004053, LOC130004054, LOC130004055, LOC130004056, LOC130004057, LOC130004058, LOC130004059, LOC130004060, LOC130004061, LOC130004062, LOC130004063, LOC130004064, LOC130004065, LOC130004066, LOC130004067, LOC130004068, LOC130004069, LOC130004070, LOC130004071, LOC130004072, LOC130004073, LOC130004074, LOC130004075, LOC130004076, LOC130004077, LOC130004078, LOC130004079, LOC130004080, LOC130004081, LOC130004082, LOC130004083, LOC130004084, LOC130004085, LOC130004086, LOC130004087, LOC130004088, LOC130004089, LOC130004090, LOC130004091, LOC130004092, LOC130004093, LOC130004094, LOC130004095, LOC130004096, LOC130004097, LOC130004098, LOC130004099, LOC130004100, LOC130004101, LOC130004102, LOC130004103, LOC130004104, LOC130004105, LOC130004106, LOC130004107, LOC130004108, LOC130004109, LOC130004110, LOC130004111, LOC130004112, LOC130004113, LOC130004114, LOC130004115, LOC130004116, LOC130004117, LOC130004118, LOC130004119, LOC130004120, LOC130004121, LOC130004122, LOC130004123, LOC130004124, LOC130004125, LOC130004126, LOC130004127, LOC130004128, LOC130004129, LOC130004130, LOC130004131, LOC130004132, LOC130004133, LOC130004134, LOC130004135, LOC130004136, LOC130004137, LOC130004138, LOC130004139, LOC130004140, LOC130004141, LOC130004142, LOC130004143, LOC130004144, LOC130004145, LOC130004146, LOC130004147, LOC130004148, LOC130004149, LOC130004150, LOC130004151, LOC130004152, LOC130004153, LOC130004154, LOC130004155, LOC130004156, LOC130004157, LOC130004158, LOC130004159, LOC130004160, LOC130004161, LOC130004162, LOC130004163, LOC130004164, LOC130004165, LOC130004166, LOC130004167, LOC130004168, LOC130004169, LOC130004170, LOC130004171, LOC130004172, LOC130004173, LOC130004174, LOC130004175, LOC130004176, LOC130004177, LOC130004178, LOC130004179, LOC130004180, LOC130004181, LOC130004182, LOC130004183, LOC130004184, LOC130004185, LOC130004186, LOC130004187, LOC130004188, LOC130004189, LOC130004190, LOC130004191, LOC130004192, LOC130004193, LOC130004194, LOC130004195, LOC130004196, LOC130004197, LOC130004198, LOC130004199, LOC130004200, LOC130004201, LOC130004202, LOC130004203, LOC130004204, LOC130004205, LOC130004206, LOC130004207, LOC130004208, LOC130004209, LOC130004210, LOC130004211, LOC130004212, LOC130004213, LOC130004214, LOC130004215, LOC130004216, LOC130004217, LOC130004218, LOC130004219, LOC130004220, LOC130004221, LOC130004222, LOC130004223, LOC130004224, LOC130004225, LOC130004226, LOC130004227, LOC130004228, LOC130004229, LOC130004230, LOC130004231, LOC130004232, LOC130004233, LOC130004234, LOC130004235, LOC130004236, LOC130004237, LOC130004238, LOC130004239, LOC130004240, LOC130004241, LOC130004242, LOC130004243, LOC130004244, LOC130004245, LOC130004246, LOC130004247, LOC130004248, LOC130004249, LOC130004250, LOC130004251, LOC130004252, LOC130004253, LOC130004254, LOC130004255, LOC130004256, LOC132089791, A1CF, ADAMTS14, ADIRF, ADIRF-AS1, ADK, ADO, AGAP11, AGAP5, AIFM2, ANAPC16, ANK3, ANK3-DT, ANXA11, ANXA7, AP3M1, ARID5B, ASAH2B, ASCC1, ATOH7, BICC1, BMPR1A, C10orf105, C10orf55, CABCOCO1, CAMK2G, CCAR1, CCDC6, CCEPR, CCSER2, CDH23, CDH23-AS1, CDHR1, CDK1, CERNA2, CFAP70, CHCHD1, CHST3, CISD1, COL13A1, COMTD1, CSTF2T, CTNNA3, DDIT4, DDIT4-AS1, DDX21, DDX50, DKK1, DLG5, DLG5-AS1, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, DYDC1, DYDC2, ECD, EGR2, EIF4EBP2, EIF5AL1, FAM13C, FAM149B1, FAM241B, FAM25A, FUT11, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, HERC4, HK1, HKDC1, HNRNPH3, IPMK, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KAT6B, KCNMA1, KCNMA1-AS1, KCNMA1-AS2, KCNMA1-AS3, KIFBP, LDB3, LINC00595, LINC00844, LINC00845, LINC00856, LINC00857, LINC00858, LINC01515, LINC01519, LINC01520, LINC01553, LINC02621, LINC02622, LINC02636, LINC02647, LINC02650, LINC02651, LINC02655, LINC02671, LINC02672, LINC02679, LNCAROD, LOC100130698, LOC101928961, LOC101928994, LOC101929165, LOC101929234, LOC101929662, LOC102723439, LOC102724719, LOC105378305, LOC105378311, LOC105378328, LOC105378367, LOC105378396, LOC107832851, LOC107984236, LOC108178982, LOC110120849, LOC110120879, LOC110120903, LOC110120929, LOC110121364, LOC110121366, LOC110121379, LOC110121382, LOC110121427, LOC110121428, LOC110121445, LOC110121470, LOC110121485, LOC110121486, LOC110121496, LOC111365158, LOC111365164, LOC111365175, LOC111365196, LOC111413023, LOC111946247, LOC111946248, LOC111946249, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC111982872, LOC111982873, LOC111982875, LOC111982876, LOC111982877, LOC111982878, LOC112268068, LOC113939917, LOC116216113, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366056, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121366063, LOC121366064, LOC121366065, LOC121366066, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815939, LOC121815940, LOC121815941, LOC121815942, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC121815950, LOC121815951, LOC121815952, LOC121815953, 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, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC124416845, LOC124416846, LOC124416847, LOC124416848, LOC124416849, LOC124416850, LOC124416851, LOC124416852, LOC124416853, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860934, LOC126860935, LOC126860936, LOC126860937, LOC126860938, LOC126860939, LOC126860940, LOC126860941, LOC126860942, LOC126860943, LOC126860944, LOC126860945, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC126860962, LOC132089793, LOC132089794, LOC132089795, LOC132089796, LOC132089797, LOC132089798, LOC132089799, LOC132089801, LOC132089804, LOC132089805, LOC132089806, LOC132089807, LOC132089808, LOC132089809, LOC132089810, LOC132089811, LOC132089812, LOC132089813, LOC132089814, LOC132089815, LOC132089816, LOC132089817, LOC132089818, LOC132089819, LOC132089820, LOC132089821, LOC132089822, LOC132089823, LOC132089824, LOC132089825, LOC132089826, LOC132089827, LOC132089828, LOC132089829, LOC132089830, LOC132089831, LOC132089832, LOC132089833, LOC132089834, LOC132089835, LOC132089836, LOC132089837, LOC132089838, LOC132089839, LOC132089840, LOC132089841, LOC132089842, LOC132089843, LOC132089844, LOC132089845, LOC132089846, LOC132089847, LOC132089849, LOC132089850, LOC132089851, LOC132089852, LOC132089853, LOC132089854, LOC132089855, LOC132089856, LOC132089857, LOC132089858, LOC132089859, LOC132089860, LOC132089862, LOC132089863, LOC132089864, LOC132089865, LOC132089866, LOC132089867, LOC132089868, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875, LOC132089876, LOC132090811, LOC132090812, LOC132090813, LOC132090814, LOC132090815, LOC132090816, LOC132090817, LOC132090818, LOC132090819, LOC132090820, LOC132090821, LOC132090822, LOC132090823, LOC132090824, LOC132211101, LOC132211102, LOC283045, LOC642361, LOC729815, LRIT1, LRIT2, LRMDA, LRRC20, LRRTM3, MACROH2A2, MAT1A, MBL2, MCU, MICU1, MIR1296, MIR346, MIR3924, MIR4676, MIR548F1, MIR605, MIR606, MIR7151, MIR7152, MMRN2, MRLN, MRPS16, MSS51, MTRNR2L5, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NRBF2, NRG3, NRG3-AS1, NUDT13, NUTM2B, NUTM2B-AS1, NUTM2E, OIT3, OPN4, P4HA1, PALD1, PBLD, PCBD1, PCDH15, PHYHIPL, PLA2G12B, PLAC9, PLAU, POLR3A, PPA1, PPIF, PPP3CB, PPP3CB-AS1, PRF1, PRKG1, PRKG1-AS1, PRXL2A, PSAP, REEP3, RGR, RHOBTB1, RPS24, RTKN2, RUFY2, SAMD8, SAR1A, SEC24C, SFTPA1, SFTPA2, SFTPD, SGPL1, SH2D4B, SHLD2, SIRT1, SLC16A9, SLC25A16, SLC29A3, SNCG, SNORA11F, SNORD172, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TFAM, TMEM254, TMEM254-AS1, TMEM26, TMEM26-AS1, TRS-TGA1-1, TSPAN14, TSPAN14-AS1, TSPAN15, TYSND1, UBE2D1, UNC5B, UNC5B-AS1, USP54, VCL, VDAC2, VPS26A, VSIR, WAPL, WAPL-DT, ZCCHC24, ZMIZ1, ZMIZ1-AS1, ZNF365, ZNF503, ZNF503-AS1, ZNF503-AS2, ZSWIM8, ZSWIM8-AS1, ZWINT | | See cases | Pathogenic (Dec 16, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr10:68956325-81181813
- GRCh38:
- Chr10:67196567-79422057
| ADAMTS14, ADK, AGAP5, AIFM2, ANAPC16, ANXA7, AP3M1, ASCC1, ATOH7, C10orf105, C10orf55, CAMK2G, CCAR1, CDH23, CDH23-AS1, CFAP70, CHCHD1, CHST3, COL13A1, COMTD1, CTNNA3, DDIT4, DDIT4-AS1, DDX21, DDX50, DLG5, DLG5-AS1, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, ECD, EIF4EBP2, FAM149B1, FAM241B, FUT11, HERC4, HK1, HKDC1, HNRNPH3, KAT6B, KCNMA1, KCNMA1-AS1, KCNMA1-AS2, KCNMA1-AS3, KIFBP, LINC00595, LINC00856, LINC02622, LINC02636, LINC02651, LOC101928994, LOC101929165, LOC101929234, LOC102723439, LOC105378367, LOC107832851, LOC108178982, LOC110120849, LOC110120879, LOC110120903, LOC110120929, LOC110121364, LOC110121366, LOC110121379, LOC110121382, LOC110121427, LOC110121428, LOC110121445, LOC110121470, LOC110121485, LOC110121496, LOC111365158, LOC111365164, LOC111365175, LOC111365196, LOC111413023, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC111982872, LOC111982873, LOC111982875, LOC113939917, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121366063, LOC121366064, LOC121366065, LOC121366066, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC121815950, LOC121815951, LOC121815952, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC124416845, LOC124416846, LOC124416847, LOC124416848, LOC124416849, LOC124416850, LOC124416851, LOC124416852, LOC124416853, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC126860962, LOC126860963, LOC126860964, LOC126860965, LOC126860966, LOC126860967, LOC126860968, LOC126860969, LOC126860970, LOC126860971, LOC126860972, LOC126860973, LOC126860974, LOC126860975, LOC126860976, LOC128462378, LOC128462379, LOC128462381, LOC128462387, LOC128462388, LOC128462389, LOC128462390, LOC128462398, LOC128462399, LOC128462400, LOC128462401, LOC128462402, LOC128462403, LOC128462404, LOC128462405, LOC128462406, LOC128462407, LOC129390188, LOC129390189, LOC129390190, LOC129390191, LOC129390192, LOC129390193, LOC129390194, LOC129390195, LOC129390196, LOC129390197, LOC129390198, LOC129390199, LOC129390200, LOC129390201, LOC129390202, LOC129390203, LOC129390204, LOC129390205, LOC129390206, LOC130003932, LOC130003933, LOC130003934, LOC130003935, LOC130003936, LOC130003937, LOC130003938, LOC130003939, LOC130003940, LOC130003941, LOC130003942, LOC130003943, LOC130003944, LOC130003945, LOC130003946, LOC130003947, LOC130003948, LOC130003949, LOC130003950, LOC130003951, LOC130003952, LOC130003953, LOC130003954, LOC130003955, LOC130003956, LOC130003957, LOC130003958, LOC130003959, LOC130003960, LOC130003961, LOC130003962, LOC130003963, LOC130003964, LOC130003965, LOC130003966, LOC130003967, LOC130003968, LOC130003969, LOC130003970, LOC130003971, LOC130003972, LOC130003973, LOC130003974, LOC130003975, LOC130003976, LOC130003977, LOC130003978, LOC130003979, LOC130003980, LOC130003981, LOC130003982, LOC130003983, LOC130003984, LOC130003985, LOC130003986, LOC130003987, LOC130003988, LOC130003989, LOC130003990, LOC130003991, LOC130003992, LOC130003993, LOC130003994, LOC130003995, LOC130003996, LOC130003997, LOC130003998, LOC130003999, LOC130004000, LOC130004001, LOC130004002, LOC130004003, LOC130004004, LOC130004005, LOC130004006, LOC130004007, LOC130004008, LOC130004009, LOC130004010, LOC130004011, LOC130004012, LOC130004013, LOC130004014, LOC130004015, LOC130004016, LOC130004017, LOC130004018, LOC130004019, LOC130004020, LOC130004021, LOC130004022, LOC130004023, LOC130004024, LOC130004025, LOC130004026, LOC130004027, LOC130004028, LOC130004029, LOC130004030, LOC130004031, LOC130004032, LOC130004033, LOC130004034, LOC130004035, LOC130004036, LOC130004037, LOC130004038, LOC130004039, LOC130004040, LOC130004041, LOC130004042, LOC130004043, LOC130004044, LOC130004045, LOC130004046, LOC130004047, LOC130004048, LOC130004049, LOC130004050, LOC130004051, LOC130004052, LOC130004053, LOC130004054, LOC130004055, LOC130004056, LOC130004057, LOC130004058, LOC130004059, LOC130004060, LOC130004061, LOC130004062, LOC130004063, LOC130004064, LOC130004065, LOC130004066, LOC130004067, LOC130004068, LOC130004069, LOC130004070, LOC130004071, LOC130004072, LOC130004073, LOC130004074, LOC130004075, LOC130004076, LOC130004077, LOC130004078, LOC130004079, LOC130004080, LOC130004081, LOC130004082, LOC130004083, LOC130004084, LOC130004085, LOC130004086, LOC130004087, LOC130004088, LOC130004089, LOC130004090, LOC130004091, LOC130004092, LOC130004093, LOC130004094, LOC130004095, LOC130004096, LOC130004097, LOC130004098, LOC130004099, LOC130004100, LOC130004101, LOC130004102, LOC130004103, LOC130004104, LOC130004105, LOC130004106, LOC130004107, LOC130004108, LOC130004109, LOC130004110, LOC130004111, LOC130004112, LOC130004113, LOC130004114, LOC130004115, LOC130004116, LOC130004117, LOC130004118, LOC130004119, LOC130004120, LOC130004121, LOC130004122, LOC130004123, LOC130004124, LOC130004125, LOC130004126, LOC130004127, LOC130004128, LOC130004129, LOC130004130, LOC130004131, LOC130004132, LOC130004133, LOC130004134, LOC130004135, LOC130004136, LOC130004137, LOC130004138, LOC130004139, LOC130004140, LOC130004141, LOC130004142, LOC130004143, LOC130004144, LOC130004145, LOC130004146, LOC130004147, LOC130004148, LOC130004149, LOC130004150, LOC130004151, LOC130004152, LOC130004153, LOC130004154, LOC130004155, LOC130004156, LOC130004157, LOC130004158, LOC130004159, LOC130004160, LOC130004161, LOC130004162, LOC130004163, LOC130004164, LOC130004165, LOC130004166, LOC130004167, LOC130004168, LOC130004169, LOC130004170, LOC130004171, LOC130004172, LOC130004173, LOC130004174, LOC130004175, LOC130004176, LOC130004177, LOC130004178, LOC130004179, LOC132089823, LOC132089824, LOC132089825, LOC132089826, LOC132089827, LOC132089828, LOC132089829, LOC132089830, LOC132089831, LOC132089832, LOC132089833, LOC132089834, LOC132089835, LOC132089836, LOC132089837, LOC132089838, LOC132089839, LOC132089840, LOC132089841, LOC132089842, LOC132089843, LOC132089844, LOC132089845, LOC132089846, LOC132089847, LOC132089849, LOC132089850, LOC132089851, LOC132089852, LOC132089853, LOC132089854, LOC132089855, LOC132089856, LOC132089857, LOC132089858, LOC132089859, LOC132089860, LOC132089862, LOC132089863, LOC132089864, LOC132089865, LOC132089866, LOC132090815, LOC132090816, LOC132090817, LOC132090818, LOC132090819, LOC132090820, LOC132090821, LOC132090822, LOC132090823, LOC132211102, LRMDA, LRRC20, MACROH2A2, MCU, MICU1, MIR4676, MIR606, MIR7151, MIR7152, MRPS16, MSS51, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NUDT13, OIT3, P4HA1, PALD1, PBLD, PCBD1, PLA2G12B, PLAU, POLR3A, PPA1, PPIF, PPP3CB, PPP3CB-AS1, PRF1, PSAP, RPS24, RUFY2, SAMD8, SAR1A, SEC24C, SGPL1, SIRT1, SLC25A16, SLC29A3, SNORA11F, SNORD172, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TRS-TGA1-1, TSPAN15, TYSND1, UNC5B, UNC5B-AS1, USP54, VCL, VDAC2, VPS26A, VSIR, ZCCHC24, ZMIZ1, ZMIZ1-AS1, ZNF503, ZNF503-AS1, ZNF503-AS2, ZSWIM8, ZSWIM8-AS1 | | See cases | Pathogenic (Jul 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr10:79551056-79837705
- GRCh38:
- Chr10:77791298-78077947
| DLG5, DLG5-AS1, LOC111365164, LOC111982872, LOC121366065, LOC121366066, LOC121815950, LOC124416849, LOC124416850, LOC126860969, LOC126860970, LOC126860971, LOC130004143, LOC130004144, LOC130004145, LOC130004146, LOC130004147, POLR3A, RPS24 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735031
- GRCh38:
- Chr10:77975273
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735046
- GRCh38:
- Chr10:77975288
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735102
- GRCh38:
- Chr10:77975344
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735163
- GRCh38:
- Chr10:77975405
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735197
- GRCh38:
- Chr10:77975439
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735271
- GRCh38:
- Chr10:77975513
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735283
- GRCh38:
- Chr10:77975525
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735283
- GRCh38:
- Chr10:77975525
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735291
- GRCh38:
- Chr10:77975533
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735312
- GRCh38:
- Chr10:77975554
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735363
- GRCh38:
- Chr10:77975605
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735367
- GRCh38:
- Chr10:77975609
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735369
- GRCh38:
- Chr10:77975611
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735374
- GRCh38:
- Chr10:77975616
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735383
- GRCh38:
- Chr10:77975625
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735411
- GRCh38:
- Chr10:77975653
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735454
- GRCh38:
- Chr10:77975696
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735456-79735465
- GRCh38:
- Chr10:77975698-77975707
| POLR3A | | Pol III-related leukodystrophy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735473
- GRCh38:
- Chr10:77975715
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735518
- GRCh38:
- Chr10:77975760
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735541
- GRCh38:
- Chr10:77975783
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735556
- GRCh38:
- Chr10:77975798
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735593
- GRCh38:
- Chr10:77975835
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735596
- GRCh38:
- Chr10:77975838
| POLR3A | | Pol III-related leukodystrophy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735629
- GRCh38:
- Chr10:77975871
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735647
- GRCh38:
- Chr10:77975889
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735651
- GRCh38:
- Chr10:77975893
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735667
- GRCh38:
- Chr10:77975909
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735672
- GRCh38:
- Chr10:77975914
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735775
- GRCh38:
- Chr10:77976017
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735779
- GRCh38:
- Chr10:77976021
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735788
- GRCh38:
- Chr10:77976030
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735894
- GRCh38:
- Chr10:77976136
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735894
- GRCh38:
- Chr10:77976136
| POLR3A | | Pol III-related leukodystrophy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735895
- GRCh38:
- Chr10:77976137
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735897
- GRCh38:
- Chr10:77976139
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735901
- GRCh38:
- Chr10:77976143
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735913
- GRCh38:
- Chr10:77976155
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79735933
- GRCh38:
- Chr10:77976175
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736017
- GRCh38:
- Chr10:77976259
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736029
- GRCh38:
- Chr10:77976271
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736077
- GRCh38:
- Chr10:77976319
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736084
- GRCh38:
- Chr10:77976326
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736107
- GRCh38:
- Chr10:77976349
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736136
- GRCh38:
- Chr10:77976378
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736139
- GRCh38:
- Chr10:77976381
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736221
- GRCh38:
- Chr10:77976463
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736242
- GRCh38:
- Chr10:77976484
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736247
- GRCh38:
- Chr10:77976489
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736300
- GRCh38:
- Chr10:77976542
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736313
- GRCh38:
- Chr10:77976555
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Mar 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736316
- GRCh38:
- Chr10:77976558
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736326
- GRCh38:
- Chr10:77976568
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736353
- GRCh38:
- Chr10:77976595
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736418
- GRCh38:
- Chr10:77976660
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736423
- GRCh38:
- Chr10:77976665
| POLR3A | | not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Conflicting interpretations of pathogenicity (Nov 22, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:79736546
- GRCh38:
- Chr10:77976788
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736563
- GRCh38:
- Chr10:77976805
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736565
- GRCh38:
- Chr10:77976807
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736616
- GRCh38:
- Chr10:77976858
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736650
- GRCh38:
- Chr10:77976892
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736766
- GRCh38:
- Chr10:77977008
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736767
- GRCh38:
- Chr10:77977009
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736810
- GRCh38:
- Chr10:77977052
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736891
- GRCh38:
- Chr10:77977133
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736892
- GRCh38:
- Chr10:77977134
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736897
- GRCh38:
- Chr10:77977139
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736928
- GRCh38:
- Chr10:77977170
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736933
- GRCh38:
- Chr10:77977175
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736964
- GRCh38:
- Chr10:77977206
| POLR3A | | Pol III-related leukodystrophy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79736964
- GRCh38:
- Chr10:77977206
| POLR3A | | not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Benign (Apr 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:79737035
- GRCh38:
- Chr10:77977277
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737086
- GRCh38:
- Chr10:77977328
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737100
- GRCh38:
- Chr10:77977342
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737101
- GRCh38:
- Chr10:77977343
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737146
- GRCh38:
- Chr10:77977388
| POLR3A | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, not provided | Conflicting interpretations of pathogenicity (Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:79737218
- GRCh38:
- Chr10:77977460
| POLR3A | | Neonatal pseudo-hydrocephalic progeroid syndrome | Likely pathogenic (Oct 1, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:79737238
- GRCh38:
- Chr10:77977480
| POLR3A | | not provided | Uncertain significance (Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737240
- GRCh38:
- Chr10:77977482
| POLR3A | T1390I | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737251
- GRCh38:
- Chr10:77977493
| POLR3A | | not provided | Likely benign (Jul 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737260
- GRCh38:
- Chr10:77977502
| POLR3A | E1383D | not provided | Uncertain significance (Feb 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737263
- GRCh38:
- Chr10:77977505
| POLR3A | | not provided | Likely benign (May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737268
- GRCh38:
- Chr10:77977510
| POLR3A | T1381A | not provided | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737271
- GRCh38:
- Chr10:77977513
| POLR3A | D1380N | not provided | Uncertain significance (Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737280
- GRCh38:
- Chr10:77977522
| POLR3A | L1377V | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737283
- GRCh38:
- Chr10:77977525
| POLR3A | P1376S | not provided | Uncertain significance (Apr 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737283
- GRCh38:
- Chr10:77977525
| POLR3A | P1376T | not provided | Likely benign (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737284
- GRCh38:
- Chr10:77977526
| POLR3A | R1375S | not provided | Uncertain significance (Apr 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737299
- GRCh38:
- Chr10:77977541
| POLR3A | | not provided | Likely benign (Jul 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737299
- GRCh38:
- Chr10:77977541
| POLR3A | | not provided | Likely benign (Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737302
- GRCh38:
- Chr10:77977544
| POLR3A | D1369E | not provided | Uncertain significance (Jul 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737308
- GRCh38:
- Chr10:77977550
| POLR3A | | not provided | Likely benign (Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737330
- GRCh38:
- Chr10:77977572
| POLR3A | F1360S | not provided | Uncertain significance (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737336
- GRCh38:
- Chr10:77977578
| POLR3A | G1358E | Neonatal pseudo-hydrocephalic progeroid syndrome | Likely pathogenic (Jul 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737338
- GRCh38:
- Chr10:77977580
| POLR3A | | not provided | Benign/Likely benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:79737345
- GRCh38:
- Chr10:77977587
| POLR3A | I1355T | not provided | Uncertain significance (May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:79737352
- GRCh38:
- Chr10:77977594
| POLR3A | M1353V | not provided, Inborn genetic diseases | Uncertain significance (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |