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Items: 1 to 100 of 1026

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Dec 16, 2011)
no assertion criteria provided
2.
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 casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
3.
GRCh37:
Chr10:79551056-79837705
GRCh38:
Chr10:77791298-78077947
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr10:79735031
GRCh38:
Chr10:77975273
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr10:79735046
GRCh38:
Chr10:77975288
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr10:79735102
GRCh38:
Chr10:77975344
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr10:79735163
GRCh38:
Chr10:77975405
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr10:79735197
GRCh38:
Chr10:77975439
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeLikely benign
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr10:79735271
GRCh38:
Chr10:77975513
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr10:79735283
GRCh38:
Chr10:77975525
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr10:79735283
GRCh38:
Chr10:77975525
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr10:79735291
GRCh38:
Chr10:77975533
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr10:79735312
GRCh38:
Chr10:77975554
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeLikely benign
(Jan 12, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr10:79735363
GRCh38:
Chr10:77975605
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr10:79735367
GRCh38:
Chr10:77975609
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr10:79735369
GRCh38:
Chr10:77975611
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr10:79735374
GRCh38:
Chr10:77975616
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr10:79735383
GRCh38:
Chr10:77975625
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr10:79735411
GRCh38:
Chr10:77975653
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr10:79735454
GRCh38:
Chr10:77975696
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr10:79735456-79735465
GRCh38:
Chr10:77975698-77975707
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr10:79735473
GRCh38:
Chr10:77975715
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr10:79735518
GRCh38:
Chr10:77975760
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr10:79735541
GRCh38:
Chr10:77975783
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr10:79735556
GRCh38:
Chr10:77975798
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr10:79735593
GRCh38:
Chr10:77975835
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr10:79735596
GRCh38:
Chr10:77975838
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr10:79735629
GRCh38:
Chr10:77975871
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr10:79735647
GRCh38:
Chr10:77975889
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr10:79735651
GRCh38:
Chr10:77975893
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr10:79735667
GRCh38:
Chr10:77975909
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr10:79735672
GRCh38:
Chr10:77975914
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr10:79735775
GRCh38:
Chr10:77976017
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr10:79735779
GRCh38:
Chr10:77976021
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr10:79735788
GRCh38:
Chr10:77976030
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr10:79735894
GRCh38:
Chr10:77976136
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr10:79735894
GRCh38:
Chr10:77976136
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr10:79735895
GRCh38:
Chr10:77976137
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr10:79735897
GRCh38:
Chr10:77976139
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr10:79735901
GRCh38:
Chr10:77976143
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr10:79735913
GRCh38:
Chr10:77976155
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr10:79735933
GRCh38:
Chr10:77976175
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr10:79736017
GRCh38:
Chr10:77976259
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr10:79736029
GRCh38:
Chr10:77976271
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr10:79736077
GRCh38:
Chr10:77976319
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr10:79736084
GRCh38:
Chr10:77976326
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr10:79736107
GRCh38:
Chr10:77976349
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Mar 30, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr10:79736136
GRCh38:
Chr10:77976378
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr10:79736139
GRCh38:
Chr10:77976381
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr10:79736221
GRCh38:
Chr10:77976463
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr10:79736242
GRCh38:
Chr10:77976484
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr10:79736247
GRCh38:
Chr10:77976489
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr10:79736300
GRCh38:
Chr10:77976542
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr10:79736313
GRCh38:
Chr10:77976555
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Mar 2, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr10:79736316
GRCh38:
Chr10:77976558
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr10:79736326
GRCh38:
Chr10:77976568
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr10:79736353
GRCh38:
Chr10:77976595
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeLikely benign
(Jan 12, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr10:79736418
GRCh38:
Chr10:77976660
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeLikely benign
(Jan 12, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr10:79736423
GRCh38:
Chr10:77976665
POLR3Anot provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeConflicting interpretations of pathogenicity
(Nov 22, 2021)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr10:79736546
GRCh38:
Chr10:77976788
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr10:79736563
GRCh38:
Chr10:77976805
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr10:79736565
GRCh38:
Chr10:77976807
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr10:79736616
GRCh38:
Chr10:77976858
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr10:79736650
GRCh38:
Chr10:77976892
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr10:79736766
GRCh38:
Chr10:77977008
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeLikely benign
(Jan 12, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr10:79736767
GRCh38:
Chr10:77977009
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr10:79736810
GRCh38:
Chr10:77977052
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr10:79736891
GRCh38:
Chr10:77977133
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr10:79736892
GRCh38:
Chr10:77977134
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr10:79736897
GRCh38:
Chr10:77977139
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr10:79736928
GRCh38:
Chr10:77977170
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr10:79736933
GRCh38:
Chr10:77977175
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr10:79736964
GRCh38:
Chr10:77977206
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr10:79736964
GRCh38:
Chr10:77977206
POLR3Anot provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeBenign
(Apr 16, 2021)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr10:79737035
GRCh38:
Chr10:77977277
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr10:79737086
GRCh38:
Chr10:77977328
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr10:79737100
GRCh38:
Chr10:77977342
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr10:79737101
GRCh38:
Chr10:77977343
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeLikely benign
(Jan 12, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr10:79737146
GRCh38:
Chr10:77977388
POLR3ALeukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, not providedConflicting interpretations of pathogenicity
(Jun 1, 2023)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr10:79737218
GRCh38:
Chr10:77977460
POLR3ANeonatal pseudo-hydrocephalic progeroid syndromeLikely pathogenic
(Oct 1, 2018)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr10:79737238
GRCh38:
Chr10:77977480
POLR3Anot providedUncertain significance
(Feb 22, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr10:79737240
GRCh38:
Chr10:77977482
POLR3AT1390Inot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr10:79737251
GRCh38:
Chr10:77977493
POLR3Anot providedLikely benign
(Jul 6, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr10:79737260
GRCh38:
Chr10:77977502
POLR3AE1383Dnot providedUncertain significance
(Feb 15, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr10:79737263
GRCh38:
Chr10:77977505
POLR3Anot providedLikely benign
(May 29, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr10:79737268
GRCh38:
Chr10:77977510
POLR3AT1381Anot providedUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr10:79737271
GRCh38:
Chr10:77977513
POLR3AD1380Nnot providedUncertain significance
(Feb 18, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr10:79737280
GRCh38:
Chr10:77977522
POLR3AL1377VLeukoencephalopathy-ataxia-hypodontia-hypomyelination syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr10:79737283
GRCh38:
Chr10:77977525
POLR3AP1376Snot providedUncertain significance
(Apr 1, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr10:79737283
GRCh38:
Chr10:77977525
POLR3AP1376Tnot providedLikely benign
(Oct 26, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr10:79737284
GRCh38:
Chr10:77977526
POLR3AR1375Snot providedUncertain significance
(Apr 1, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr10:79737299
GRCh38:
Chr10:77977541
POLR3Anot providedLikely benign
(Jul 10, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr10:79737299
GRCh38:
Chr10:77977541
POLR3Anot providedLikely benign
(Oct 31, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr10:79737302
GRCh38:
Chr10:77977544
POLR3AD1369Enot providedUncertain significance
(Jul 7, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr10:79737308
GRCh38:
Chr10:77977550
POLR3Anot providedLikely benign
(Apr 21, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr10:79737330
GRCh38:
Chr10:77977572
POLR3AF1360Snot providedUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr10:79737336
GRCh38:
Chr10:77977578
POLR3AG1358ENeonatal pseudo-hydrocephalic progeroid syndromeLikely pathogenic
(Jul 12, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr10:79737338
GRCh38:
Chr10:77977580
POLR3Anot providedBenign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr10:79737345
GRCh38:
Chr10:77977587
POLR3AI1355Tnot providedUncertain significance
(May 6, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr10:79737352
GRCh38:
Chr10:77977594
POLR3AM1353Vnot provided, Inborn genetic diseasesUncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
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