| - GRCh37:
- Chr17:525-14667519
- GRCh38:
- Chr17:150732-14764202
| LOC130060143, LOC130060144, LOC130060145, LOC130060146, LOC130060147, LOC130060148, LOC130060149, LOC130060150, LOC130060151, LOC130060152, LOC130060153, LOC130060154, LOC130060155, LOC130060156, LOC130060157, LOC130060158, LOC130060159, LOC130060160, LOC130060161, LOC130060162, LOC130060163, LOC130060164, LOC130060165, LOC130060166, LOC130060167, LOC130060168, LOC130060169, LOC130060170, LOC130060171, LOC130060172, LOC130060173, LOC130060174, LOC130060175, LOC130060176, LOC130060177, LOC130060178, LOC130060179, LOC130060180, LOC130060181, LOC130060182, LOC130060183, LOC130060184, LOC130060185, LOC130060186, LOC130060187, LOC130060188, LOC130060189, LOC130060190, LOC130060191, LOC130060192, LOC130060193, LOC130060194, LOC130060195, LOC130060196, LOC130060197, LOC130060198, LOC130060199, LOC130060200, LOC130060201, LOC130060202, LOC130060203, LOC130060204, LOC130060205, LOC130060206, LOC130060207, LOC130060208, LOC130060209, LOC130060210, LOC130060211, LOC130060212, LOC130060213, LOC130060214, LOC130060215, LOC130060216, LOC130060217, LOC130060218, LOC130060219, LOC130060220, LOC130060221, LOC130060222, LOC130060223, LOC130060224, LOC130060225, LOC130060226, LOC130060227, LOC130060228, LOC130060229, LOC130060230, LOC130060231, LOC130060232, LOC130060233, LOC130060234, LOC130060235, LOC130060236, LOC130060237, LOC130060238, LOC130060239, LOC130060240, LOC130060241, LOC130060242, LOC130060243, LOC130060244, LOC130060245, LOC130060246, LOC130060247, LOC130060248, LOC130060249, LOC130060250, LOC130060251, LOC130060252, LOC130060253, LOC130060254, LOC130060255, LOC130060256, LOC130060257, LOC130060258, LOC130060259, LOC130060260, LOC130060261, LOC130060262, LOC130060263, LOC130060264, LOC130060265, LOC130060266, LOC130060267, LOC130060268, LOC130060269, LOC130060270, LOC130060271, LOC130060272, LOC130060273, LOC130060274, LOC130060275, LOC130060276, LOC130060277, LOC130060278, LOC130060279, LOC130060280, LOC130060281, LOC130060282, LOC130060283, LOC130060284, LOC130060285, LOC130060286, LOC130060287, LOC130060288, LOC130060289, LOC130060290, LOC130060291, LOC130060292, LOC130060293, LOC130060294, LOC130060295, LOC130060296, LOC130060297, LOC130060298, LOC130060299, LOC130060300, LOC130060301, LOC130060302, LOC130060303, LOC130060304, LOC130060305, LOC130060306, LOC132090454, LOC132090455, LOC132090456, LOC132090460, LOC132090461, LOC132090462, LOC132090463, LOC132090464, LOC132090465, LOC132090466, LOC132090467, LOC132090468, LOC132090469, LOC132090470, LOC132090471, LOC132090472, LOC132090473, LOC132090474, LOC132090475, LOC132090476, LOC132090483, LOC132090484, LOC132090485, LOC132090892, LOC132090893, LOC132090894, LOC284009, LOC339166, LOC728392, MAP2K4, MED11, MED31, METTL16, MFSD6L, MGC12916, MINK1, MIR1253, MIR1269B, MIR132, MIR195, MIR212, MIR22, MIR22HG, MIR3183, MIR324, MIR4314, MIR4520-1, MIR4520-2, MIR4521, MIR497, MIR497HG, MIR548H3, MIR6776, MIR6864, MIR6865, MIR6883, MIR744, MIS12, MNT, MPDU1, MPDU1-AS1, MRM3, MYBBP1A, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYHAS, MYO1C, MYOCD, MYOCD-AS1, NAA38, NCBP3, NDEL1, NEURL4, NLGN2, NLRP1, NTN1, NUP88, NXN, ODF4, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PER1, PFAS, PFN1, PHF23, PIK3R5, PIK3R5-DT, PIK3R6, PIMREG, PIRT, PITPNA, PITPNA-AS1, PITPNM3, PLD2, PLSCR3, POLR2A, PRPF8, PSMB6, RABEP1, RANGRF, RAP1GAP2, RCVRN, RFLNB, RILP, RNASEK, RNASEK-C17orf49, RNF167, RNF222, RNF227, RPA1, RPAIN, RPH3AL, RPH3AL-AS1, RPL26, RTN4RL1, SAT2, SCARF1, SCARNA21, SCIMP, SCO1, SENP3, SENP3-EIF4A1, SERPINF1, SERPINF2, SGSM2, SHBG, SHISA6, SHPK, SLC13A5, SLC16A11, SLC16A13, SLC25A11, SLC25A35, SLC2A4, SLC35G6, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORA48, SNORA67, SNORD10, SNORD118, SNORD91A, SNORD91B, SOX15, SPAG7, SPATA22, SPDYE4, SPEM1, SPEM2, SPEM3, SPNS2, SPNS3, SRR, STX8, TAX1BP3, TEKT1, TIMM22, TLCD2, TLCD3A, TM4SF5, TMEM102, TMEM107, TMEM220, TMEM220-AS1, TMEM238L, TMEM256, TMEM256-PLSCR3, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRARG1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRPV1, TRPV3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, TSR1, TXNDC17, UBE2G1, USP43, USP6, VAMP2, VMO1, VPS53, WDR81, WRAP53, WSCD1, XAF1, YBX2, ZNF232, YWHAE, ZBTB4, ZFP3, ZFP3-DT, ZMYND15, ZNF18, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1, CCDC42, CCDC92B, CD68, CDRT15, CFAP52, CHD3, CHRNB1, CHRNE, CLDN7, CLEC10A, CLUH, CNTROB, COX10, COX10-DT, CRK, CTC1, CTDNEP1, CTNS, CTNS-AS1, CXCL16, CYB5D1, CYB5D2, DERL2, DHRS7C, DHX33, DHX33-DT, DLG4, DNAH2, DNAH9, DOC2B, DPH1, DVL2, EFNB3, EIF4A1, EIF5A, ELAC2, ELP5, EMC6, ENO3, FBXO39, FGF11, FXR2, GABARAP, GAS7, GEMIN4, GGT6, GLOD4, GLP2R, GLTPD2, GP1BA, GPS2, GSG1L2, GUCY2D, HASPIN, HES7, HIC1, HS3ST3A1, HS3ST3B1, INCA1, INPP5K, ITGAE, KCNAB3, KCTD11, KDM6B, KIAA0753, KIF1C, KIF1C-AS1, KRBA2, LIAT1, LINC00324, LINC00670, LINC01975, LINC01996, LINC02091, LINC02093, LOC100128288, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC101928266, LOC101928350, LOC105371430, LOC105371485, LOC105371490, LOC105371520, LOC105371592, LOC105943586, LOC106794092, LOC106799838, LOC107984973, LOC107988047, LOC108254670, LOC110120951, LOC110121369, LOC110121380, LOC111413025, LOC111556120, LOC111828490, LOC112529892, LOC112529893, LOC112529894, LOC112529895, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC112533664, LOC112533665, LOC112533683, LOC112533684, LOC112533685, LOC114827863, LOC116276454, LOC121587568, LOC121587569, LOC121587570, LOC121587571, LOC121587572, LOC121587573, LOC121587574, LOC121587575, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC121852920, LOC121852921, LOC121852922, LOC121852923, LOC122526780, LOC124904106, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC125177411, LOC125177412, LOC125177414, LOC125177415, LOC125177416, LOC125177418, LOC125177419, LOC125177420, LOC125177421, LOC125177425, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC126862467, LOC126862468, LOC126862469, LOC126862470, LOC126862471, LOC126862472, LOC126862473, LOC126862474, LOC126862475, LOC126862476, LOC126862477, LOC126862478, LOC126862479, LOC126862480, LOC126862481, LOC126862482, LOC126862483, LOC126862484, LOC126862485, LOC126862486, LOC126862487, LOC126862488, LOC126862489, LOC126862490, LOC126862491, LOC126862492, LOC126862493, LOC126862494, LOC126862495, LOC126862496, LOC126862497, LOC126862498, LOC126862499, LOC126862500, LOC126862501, LOC126862502, LOC126862503, LOC126862504, LOC126862505, LOC126862506, LOC126862507, LOC126862508, LOC126862509, LOC126862510, LOC126862511, LOC129390818, LOC129390819, LOC129390820, LOC129390821, LOC129390822, LOC129390823, LOC129390824, LOC129390825, LOC129390826, LOC129390827, LOC129390828, LOC129390829, LOC129390830, LOC129390831, LOC129390832, LOC129390833, LOC129390834, LOC129390835, LOC129390836, LOC129390837, LOC129390838, LOC129390839, LOC129390840, LOC130059857, LOC130059858, LOC130059859, LOC130059860, LOC130059861, LOC130059862, LOC130059863, LOC130059864, LOC130059865, LOC130059866, LOC130059867, LOC130059868, LOC130059869, LOC130059870, LOC130059871, LOC130059872, LOC130059873, LOC130059874, LOC130059875, LOC130059876, LOC130059877, LOC130059878, LOC130059879, LOC130059880, LOC130059881, LOC130059882, LOC130059883, LOC130059884, LOC130059885, LOC130059886, LOC130059887, LOC130059888, LOC130059889, LOC130059890, LOC130059891, LOC130059892, LOC130059893, LOC130059894, LOC130059895, LOC130059896, LOC130059897, LOC130059898, LOC130059899, LOC130059900, LOC130059901, LOC130059902, LOC130059903, LOC130059904, LOC130059905, LOC130059906, LOC130059907, LOC130059908, LOC130059909, LOC130059910, LOC130059911, LOC130059912, LOC130059913, LOC130059914, LOC130059915, LOC130059916, LOC130059917, LOC130059918, LOC130059919, LOC130059920, LOC130059921, LOC130059922, LOC130059923, LOC130059924, LOC130059925, LOC130059926, LOC130059927, LOC130059928, LOC130059929, LOC130059930, LOC130059931, LOC130059932, LOC130059933, LOC130059934, LOC130059935, LOC130059936, LOC130059937, LOC130059938, LOC130059939, LOC130059940, LOC130059941, LOC130059942, LOC130059943, LOC130059944, LOC130059945, LOC130059946, LOC130059947, LOC130059948, LOC130059949, LOC130059950, LOC130059951, LOC130059952, LOC130059953, LOC130059954, LOC130059955, LOC130059956, LOC130059957, LOC130059958, LOC130059959, LOC130059960, LOC130059961, LOC130059962, LOC130059963, LOC130059964, LOC130059965, LOC130059966, LOC130059967, LOC130059968, LOC130059969, LOC130059970, LOC130059971, LOC130059972, LOC130059973, LOC130059974, LOC130059975, LOC130059976, LOC130059977, LOC130059978, LOC130059979, LOC130059980, LOC130059981, LOC130059982, LOC130059983, LOC130059984, LOC130059985, LOC130059986, LOC130059987, LOC130059988, LOC130059989, LOC130059990, LOC130059991, LOC130059992, LOC130059993, LOC130059994, LOC130059995, LOC130059996, LOC130059997, LOC130059998, LOC130059999, LOC130060000, LOC130060001, LOC130060002, LOC130060003, LOC130060004, LOC130060005, LOC130060006, LOC130060007, LOC130060008, LOC130060009, LOC130060010, LOC130060011, LOC130060012, LOC130060013, LOC130060014, LOC130060015, LOC130060016, LOC130060017, LOC130060018, LOC130060019, LOC130060020, LOC130060021, LOC130060022, LOC130060023, LOC130060024, LOC130060025, LOC130060026, LOC130060027, LOC130060028, LOC130060029, LOC130060030, LOC130060031, LOC130060032, LOC130060033, LOC130060034, LOC130060035, LOC130060036, LOC130060037, LOC130060038, LOC130060039, LOC130060040, LOC130060041, LOC130060042, LOC130060043, LOC130060044, LOC130060045, LOC130060046, LOC130060047, LOC130060048, LOC130060049, LOC130060050, LOC130060051, LOC130060052, LOC130060053, LOC130060054, LOC130060055, LOC130060056, LOC130060057, LOC130060058, LOC130060059, LOC130060060, LOC130060061, LOC130060062, LOC130060063, LOC130060064, LOC130060065, LOC130060066, LOC130060067, LOC130060068, LOC130060069, LOC130060070, LOC130060071, LOC130060072, LOC130060073, LOC130060074, LOC130060075, LOC130060076, LOC130060077, LOC130060078, LOC130060079, LOC130060080, LOC130060081, LOC130060082, LOC130060083, LOC130060084, LOC130060085, LOC130060086, LOC130060087, LOC130060088, LOC130060089, LOC130060090, LOC130060091, LOC130060092, LOC130060093, LOC130060094, LOC130060095, LOC130060096, LOC130060097, LOC130060098, LOC130060099, LOC130060100, LOC130060101, LOC130060102, LOC130060103, LOC130060104, LOC130060105, LOC130060106, LOC130060107, LOC130060108, LOC130060109, LOC130060110, LOC130060111, LOC130060112, LOC130060113, LOC130060114, LOC130060115, LOC130060116, LOC130060117, LOC130060118, LOC130060119, LOC130060120, LOC130060121, LOC130060122, LOC130060123, LOC130060124, LOC130060125, LOC130060126, LOC130060127, LOC130060128, LOC130060129, LOC130060130, LOC130060131, LOC130060132, LOC130060133, LOC130060134, LOC130060135, LOC130060136, LOC130060137, LOC130060138, LOC130060139, LOC130060140, LOC130060141, LOC130060142, ABR, ABR-AS1, ACADVL, ACAP1, ADPRM, AIPL1, ALOX12, ALOX12-AS1, ALOX12B, ALOX15, ALOX15B, ALOXE3, ANKFY1, ARHGAP44, ARHGAP44-AS1, ARHGEF15, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, AURKB, BCL6B, BHLHA9, BORCS6, C17orf100, C17orf107, C17orf114, C17orf49, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1 | | See cases | Pathogenic (Mar 10, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr17:45835-12247218
- GRCh38:
- Chr17:162016-12343901
| MIR6883, MIR744, MIS12, MNT, MPDU1, MPDU1-AS1, MRM3, MYBBP1A, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYHAS, MYO1C, NAA38, NCBP3, NDEL1, NEURL4, NLGN2, NLRP1, NTN1, NUP88, NXN, ODF4, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PER1, PFAS, PFN1, PHF23, PIK3R5, PIK3R5-DT, PIK3R6, PIMREG, PIRT, PITPNA, PITPNA-AS1, PITPNM3, PLD2, PLSCR3, POLR2A, PRPF8, PSMB6, RABEP1, RANGRF, RAP1GAP2, RCVRN, RFLNB, RILP, RNASEK, RNASEK-C17orf49, RNF167, RNF222, RNF227, RPA1, RPAIN, RPH3AL, RPH3AL-AS1, RPL26, RTN4RL1, SAT2, SCARF1, SCARNA21, SCIMP, SCO1, SENP3, SENP3-EIF4A1, SERPINF1, SERPINF2, SGSM2, SHBG, SHISA6, SHPK, SLC13A5, SLC16A11, SLC16A13, SLC25A11, SLC25A35, SLC2A4, SLC35G6, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORA48, SNORA67, SNORD10, SNORD118, SNORD91A, SNORD91B, SOX15, SPAG7, SPATA22, SPDYE4, SPEM1, SPEM2, SPEM3, SPNS2, SPNS3, SRR, STX8, TAX1BP3, TEKT1, TIMM22, TLCD2, TLCD3A, TM4SF5, TMEM102, TMEM107, TMEM220, TMEM220-AS1, TMEM238L, TMEM256, TMEM256-PLSCR3, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRARG1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRPV1, TRPV3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, TSR1, TXNDC17, UBE2G1, USP43, USP6, VAMP2, VMO1, VPS53, WDR81, WRAP53, WSCD1, XAF1, YBX2, ZNF232, YWHAE, ZBTB4, ZFP3, ZFP3-DT, ZMYND15, ZNF18, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1, LOC126862499, LOC126862500, LOC126862501, LOC126862502, LOC126862503, LOC126862504, LOC126862505, LOC126862506, LOC126862507, LOC129390818, LOC129390819, LOC129390820, LOC129390821, LOC129390822, LOC129390823, LOC129390824, LOC129390825, LOC129390826, LOC129390827, LOC129390828, LOC129390829, LOC129390830, LOC129390831, LOC129390832, LOC129390833, LOC129390834, LOC129390835, LOC129390836, LOC129390837, LOC130059857, LOC130059858, LOC130059859, LOC130059860, LOC130059861, LOC130059862, LOC130059863, LOC130059864, LOC130059865, LOC130059866, LOC130059867, LOC130059868, LOC130059869, LOC130059870, LOC130059871, LOC130059872, LOC130059873, LOC130059874, LOC130059875, LOC130059876, LOC130059877, LOC130059878, LOC130059879, LOC130059880, LOC130059881, LOC130059882, LOC130059883, LOC130059884, LOC130059885, LOC130059886, LOC130059887, LOC130059888, LOC130059889, LOC130059890, LOC130059891, LOC130059892, LOC130059893, LOC130059894, LOC130059895, LOC130059896, LOC130059897, LOC130059898, LOC130059899, LOC130059900, LOC130059901, LOC130059902, LOC130059903, LOC130059904, LOC130059905, LOC130059906, LOC130059907, LOC130059908, LOC130059909, LOC130059910, LOC130059911, LOC130059912, LOC130059913, LOC130059914, LOC130059915, LOC130059916, LOC130059917, LOC130059918, LOC130059919, LOC130059920, LOC130059921, LOC130059922, LOC130059923, LOC130059924, LOC130059925, LOC130059926, LOC130059927, LOC130059928, LOC130059929, LOC130059930, LOC130059931, LOC130059932, LOC130059933, LOC130059934, LOC130059935, LOC130059936, LOC130059937, LOC130059938, LOC130059939, LOC130059940, LOC130059941, LOC130059942, LOC130059943, LOC130059944, LOC130059945, LOC130059946, LOC130059947, LOC130059948, LOC130059949, LOC130059950, LOC130059951, LOC130059952, LOC130059953, LOC130059954, LOC130059955, LOC130059956, LOC130059957, LOC130059958, LOC130059959, LOC130059960, LOC130059961, LOC130059962, LOC130059963, LOC130059964, LOC130059965, LOC130059966, LOC130059967, LOC130059968, LOC130059969, LOC130059970, LOC130059971, LOC130059972, LOC130059973, LOC130059974, LOC130059975, LOC130059976, LOC130059977, LOC130059978, LOC130059979, LOC130059980, LOC130059981, LOC130059982, LOC130059983, LOC130059984, LOC130059985, LOC130059986, LOC130059987, LOC130059988, LOC130059989, LOC130059990, LOC130059991, LOC130059992, LOC130059993, LOC130059994, LOC130059995, LOC130059996, LOC130059997, LOC130059998, LOC130059999, LOC130060000, LOC130060001, LOC130060002, LOC130060003, LOC130060004, LOC130060005, LOC130060006, LOC130060007, LOC130060008, LOC130060009, LOC130060010, LOC130060011, LOC130060012, LOC130060013, LOC130060014, LOC130060015, LOC130060016, LOC130060017, LOC130060018, LOC130060019, LOC130060020, LOC130060021, LOC130060022, LOC130060023, LOC130060024, LOC130060025, LOC130060026, LOC130060027, LOC130060028, LOC130060029, LOC130060030, LOC130060031, LOC130060032, LOC130060033, LOC130060034, LOC130060035, LOC130060036, LOC130060037, LOC130060038, LOC130060039, LOC130060040, LOC130060041, LOC130060042, LOC130060043, LOC130060044, LOC130060045, LOC130060046, LOC130060047, LOC130060048, LOC130060049, LOC130060050, LOC130060051, LOC130060052, LOC130060053, LOC130060054, LOC130060055, LOC130060056, LOC130060057, LOC130060058, LOC130060059, LOC130060060, LOC130060061, LOC130060062, LOC130060063, LOC130060064, LOC130060065, LOC130060066, LOC130060067, LOC130060068, LOC130060069, LOC130060070, LOC130060071, LOC130060072, LOC130060073, LOC130060074, LOC130060075, LOC130060076, LOC130060077, LOC130060078, LOC130060079, LOC130060080, LOC130060081, LOC130060082, LOC130060083, LOC130060084, LOC130060085, LOC130060086, LOC130060087, LOC130060088, LOC130060089, LOC130060090, LOC130060091, LOC130060092, LOC130060093, LOC130060094, LOC130060095, LOC130060096, LOC130060097, LOC130060098, LOC130060099, LOC130060100, LOC130060101, LOC130060102, LOC130060103, LOC130060104, LOC130060105, LOC130060106, LOC130060107, LOC130060108, LOC130060109, LOC130060110, LOC130060111, LOC130060112, LOC130060113, LOC130060114, LOC130060115, LOC130060116, LOC130060117, LOC130060118, LOC130060119, LOC130060120, LOC130060121, LOC130060122, LOC130060123, LOC130060124, LOC130060125, LOC130060126, LOC130060127, LOC130060128, LOC130060129, LOC130060130, LOC130060131, LOC130060132, LOC130060133, LOC130060134, LOC130060135, LOC130060136, LOC130060137, LOC130060138, LOC130060139, LOC130060140, LOC130060141, LOC130060142, LOC130060143, LOC130060144, LOC130060145, LOC130060146, LOC130060147, LOC130060148, LOC130060149, LOC130060150, LOC130060151, LOC130060152, LOC130060153, LOC130060154, LOC130060155, LOC130060156, LOC130060157, LOC130060158, LOC130060159, LOC130060160, LOC130060161, LOC130060162, LOC130060163, LOC130060164, LOC130060165, LOC130060166, LOC130060167, LOC130060168, LOC130060169, LOC130060170, LOC130060171, LOC130060172, LOC130060173, LOC130060174, LOC130060175, LOC130060176, LOC130060177, LOC130060178, LOC130060179, LOC130060180, LOC130060181, LOC130060182, LOC130060183, LOC130060184, LOC130060185, LOC130060186, LOC130060187, LOC130060188, LOC130060189, LOC130060190, LOC130060191, LOC130060192, LOC130060193, LOC130060194, LOC130060195, LOC130060196, LOC130060197, LOC130060198, LOC130060199, LOC130060200, LOC130060201, LOC130060202, LOC130060203, LOC130060204, LOC130060205, LOC130060206, LOC130060207, LOC130060208, LOC130060209, LOC130060210, LOC130060211, LOC130060212, LOC130060213, LOC130060214, LOC130060215, LOC130060216, LOC130060217, LOC130060218, LOC130060219, LOC130060220, LOC130060221, LOC130060222, LOC130060223, LOC130060224, LOC130060225, LOC130060226, LOC130060227, LOC130060228, LOC130060229, LOC130060230, LOC130060231, LOC130060232, LOC130060233, LOC130060234, LOC130060235, LOC130060236, LOC130060237, LOC130060238, LOC130060239, LOC130060240, LOC130060241, LOC130060242, LOC130060243, LOC130060244, LOC130060245, LOC130060246, LOC130060247, LOC130060248, LOC130060249, LOC130060250, LOC130060251, LOC130060252, LOC130060253, LOC130060254, LOC130060255, LOC130060256, LOC130060257, LOC130060258, LOC130060259, LOC130060260, LOC130060261, LOC130060262, LOC130060263, LOC130060264, LOC130060265, LOC130060266, LOC130060267, LOC130060268, LOC130060269, LOC130060270, LOC130060271, LOC130060272, LOC130060273, LOC130060274, LOC130060275, LOC130060276, LOC130060277, LOC130060278, LOC130060279, LOC130060280, LOC130060281, LOC130060282, LOC130060283, LOC130060284, LOC130060285, LOC130060286, LOC130060287, LOC130060288, LOC130060289, LOC130060290, LOC130060291, LOC130060292, LOC130060293, LOC130060294, LOC130060295, LOC130060296, LOC132090460, LOC132090461, LOC132090462, LOC132090463, LOC132090464, LOC132090465, LOC132090466, LOC132090467, LOC132090468, LOC132090469, LOC132090470, LOC132090471, LOC132090472, LOC132090473, LOC132090474, LOC132090475, LOC132090476, LOC132090483, LOC132090484, LOC132090485, LOC132090892, LOC132090893, LOC132090894, LOC284009, LOC339166, LOC728392, MAP2K4, MED11, MED31, METTL16, MFSD6L, MINK1, MIR1253, MIR132, MIR195, MIR212, MIR22, MIR22HG, MIR3183, MIR324, MIR4314, MIR4520-1, MIR4520-2, MIR4521, MIR497, MIR497HG, MIR6776, MIR6864, MIR6865, ABR, ABR-AS1, ACADVL, ACAP1, ADPRM, AIPL1, ALOX12, ALOX12-AS1, ALOX12B, ALOX15, ALOX15B, ALOXE3, ANKFY1, ARHGEF15, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, AURKB, BCL6B, BHLHA9, BORCS6, C17orf100, C17orf107, C17orf114, C17orf49, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC42, CCDC92B, CD68, CFAP52, CHD3, CHRNB1, CHRNE, CLDN7, CLEC10A, CLUH, CNTROB, CRK, CTC1, CTDNEP1, CTNS, CTNS-AS1, CXCL16, CYB5D1, CYB5D2, DERL2, DHRS7C, DHX33, DHX33-DT, DLG4, DNAH2, DNAH9, DOC2B, DPH1, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, EMC6, ENO3, FBXO39, FGF11, FXR2, GABARAP, GAS7, GEMIN4, GGT6, GLOD4, GLP2R, GLTPD2, GP1BA, GPS2, GSG1L2, GUCY2D, HASPIN, HES7, HIC1, INCA1, INPP5K, ITGAE, KCNAB3, KCTD11, KDM6B, KIAA0753, KIF1C, KIF1C-AS1, KRBA2, LIAT1, LINC00324, LINC01975, LINC01996, LINC02091, LOC100128288, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC101928266, LOC101928350, LOC105371430, LOC105371485, LOC105371490, LOC105371520, LOC105371592, LOC106794092, LOC106799838, LOC107984973, LOC107988047, LOC108254670, LOC110120951, LOC110121369, LOC111413025, LOC111556120, LOC111828490, LOC112529892, LOC112529893, LOC112529894, LOC112529895, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC112533664, LOC112533665, LOC112533683, LOC112533684, LOC112533685, LOC114827863, LOC116276454, LOC121587568, LOC121587569, LOC121587570, LOC121587571, LOC121587572, LOC121587573, LOC121587574, LOC121587575, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC121852920, LOC121852921, LOC121852922, LOC121852923, LOC122526780, LOC124904106, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC125177411, LOC125177412, LOC125177414, LOC125177415, LOC125177416, LOC125177418, LOC125177419, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC126862467, LOC126862468, LOC126862469, LOC126862470, LOC126862471, LOC126862472, LOC126862473, LOC126862474, LOC126862475, LOC126862476, LOC126862477, LOC126862478, LOC126862479, LOC126862480, LOC126862481, LOC126862482, LOC126862483, LOC126862484, LOC126862485, LOC126862486, LOC126862487, LOC126862488, LOC126862489, LOC126862490, LOC126862491, LOC126862492, LOC126862493, LOC126862494, LOC126862495, LOC126862496, LOC126862497, LOC126862498 | | See cases | Pathogenic (Aug 27, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr17:5636273-11998666
- GRCh38:
- Chr17:5732953-12095349
| LOC126862500, LOC126862501, LOC126862502, LOC126862503, LOC126862504, LOC126862505, LOC126862506, LOC126862507, LOC129390829, LOC129390830, LOC129390831, LOC129390832, LOC129390833, LOC129390834, LOC129390835, LOC129390836, LOC129390837, LOC130060083, LOC130060084, LOC130060085, LOC130060086, LOC130060087, LOC130060088, LOC130060089, LOC130060090, LOC130060091, LOC130060092, LOC130060093, LOC130060094, LOC130060095, LOC130060096, LOC130060097, LOC130060098, LOC130060099, LOC130060100, LOC130060101, LOC130060102, LOC130060103, LOC130060104, LOC130060105, LOC130060106, LOC130060107, LOC130060108, LOC130060109, LOC130060110, LOC130060111, LOC130060112, LOC130060113, LOC130060114, LOC130060115, LOC130060116, LOC130060117, LOC130060118, LOC130060119, LOC130060120, LOC130060121, LOC130060122, LOC130060123, LOC130060124, LOC130060125, LOC130060126, LOC130060127, LOC130060128, LOC130060129, LOC130060130, LOC130060131, LOC130060132, LOC130060133, LOC130060134, LOC130060135, LOC130060136, LOC130060137, LOC130060138, LOC130060139, LOC130060140, LOC130060141, LOC130060142, LOC130060143, LOC130060144, LOC130060145, LOC130060146, LOC130060147, LOC130060148, LOC130060149, LOC130060150, LOC130060151, LOC130060152, LOC130060153, LOC130060154, LOC130060155, LOC130060156, LOC130060157, LOC130060158, LOC130060159, LOC130060160, LOC130060161, LOC130060162, LOC130060163, LOC130060164, LOC130060165, LOC130060166, LOC130060167, LOC130060168, LOC130060169, LOC130060170, LOC130060171, LOC130060172, LOC130060173, LOC130060174, LOC130060175, LOC130060176, LOC130060177, LOC130060178, LOC130060179, LOC130060180, LOC130060181, LOC130060182, LOC130060183, LOC130060184, LOC130060185, LOC130060186, LOC130060187, LOC130060188, LOC130060189, LOC130060190, LOC130060191, LOC130060192, LOC130060193, LOC130060194, LOC130060195, LOC130060196, LOC130060197, LOC130060198, LOC130060199, LOC130060200, LOC130060201, LOC130060202, LOC130060203, LOC130060204, LOC130060205, LOC130060206, LOC130060207, LOC130060208, LOC130060209, LOC130060210, LOC130060211, LOC130060212, LOC130060213, LOC130060214, LOC130060215, LOC130060216, LOC130060217, LOC130060218, LOC130060219, LOC130060220, LOC130060221, LOC130060222, LOC130060223, LOC130060224, LOC130060225, LOC130060226, LOC130060227, LOC130060228, LOC130060229, LOC130060230, LOC130060231, LOC130060232, LOC130060233, LOC130060234, LOC130060235, LOC130060236, LOC130060237, LOC130060238, LOC130060239, LOC130060240, LOC130060241, LOC130060242, LOC130060243, LOC130060244, LOC130060245, LOC130060246, LOC130060247, LOC130060248, LOC130060249, LOC130060250, LOC130060251, LOC130060252, LOC130060253, LOC130060254, LOC130060255, LOC130060256, LOC130060257, LOC130060258, LOC130060259, LOC130060260, LOC130060261, LOC130060262, LOC130060263, LOC130060264, LOC130060265, LOC130060266, LOC130060267, LOC130060268, LOC130060269, LOC130060270, LOC130060271, LOC130060272, LOC130060273, LOC130060274, LOC130060275, LOC130060276, LOC130060277, LOC130060278, LOC130060279, LOC130060280, LOC130060281, LOC130060282, LOC130060283, LOC130060284, LOC130060285, LOC130060286, LOC130060287, LOC130060288, LOC130060289, LOC130060290, LOC130060291, LOC130060292, LOC130060293, LOC130060294, LOC130060295, LOC130060296, LOC132090476, LOC132090484, LOC132090485, LOC132090894, LOC339166, MAP2K4, MED31, MFSD6L, MIR195, MIR324, MIR4314, MIR4520-1, MIR4520-2, MIR4521, MIR497, MIR497HG, MIR6883, MIR744, MPDU1, MPDU1-AS1, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYHAS, NAA38, NDEL1, NEURL4, NLGN2, NTN1, ODF4, PER1, PFAS, PHF23, PIK3R5, PIK3R5-DT, PIK3R6, PIMREG, PIRT, PITPNM3, PLSCR3, POLR2A, RANGRF, RCVRN, RNASEK, RNASEK-C17orf49, RNF222, RNF227, RPL26, SAT2, SCARNA21, SCO1, SENP3, SENP3-EIF4A1, SHBG, SHISA6, SLC13A5, SLC16A11, SLC16A13, SLC25A35, SLC2A4, SLC35G6, SNORA48, SNORA67, SNORD10, SNORD118, SOX15, SPDYE4, SPEM1, SPEM2, SPEM3, STX8, TEKT1, TMEM102, TMEM107, TMEM220, TMEM220-AS1, TMEM238L, TMEM256, TMEM256-PLSCR3, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, TXNDC17, USP43, VAMP2, WRAP53, WSCD1, XAF1, YBX2, ZBTB4, ZNF18, ACADVL, ACAP1, ADPRM, AIPL1, ALOX12, ALOX12-AS1, ALOX12B, ALOX15B, ALOXE3, ARHGEF15, ASGR1, ASGR2, ATP1B2, AURKB, BCL6B, BORCS6, C17orf100, C17orf49, CCDC42, CD68, CFAP52, CHD3, CHRNB1, CLDN7, CLEC10A, CNTROB, CTC1, CTDNEP1, CYB5D1, DHRS7C, DLG4, DNAH2, DNAH9, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GAS7, GLP2R, GPS2, GSG1L2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, KIAA0753, KRBA2, LINC00324, LOC100128288, LOC101928266, LOC101928350, LOC105371520, LOC106794092, LOC108254670, LOC111556120, LOC111828490, LOC112529894, LOC112529895, LOC112533656, LOC112533657, LOC112533664, LOC112533665, LOC112533683, LOC112533684, LOC112533685, LOC114827863, LOC116276454, LOC121587572, LOC121587573, LOC121587574, LOC121587575, LOC121852920, LOC121852921, LOC121852922, LOC121852923, LOC122526780, LOC124904106, LOC125177411, LOC125177412, LOC125177414, LOC125177415, LOC125177416, LOC125177418, LOC125177419, LOC126862476, LOC126862477, LOC126862478, LOC126862479, LOC126862480, LOC126862481, LOC126862482, LOC126862483, LOC126862484, LOC126862485, LOC126862486, LOC126862487, LOC126862488, LOC126862489, LOC126862490, LOC126862491, LOC126862492, LOC126862493, LOC126862494, LOC126862495, LOC126862496, LOC126862497, LOC126862498, LOC126862499 | | See cases | Pathogenic (Sep 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr17:9604499-11886670
- GRCh38:
- Chr17:9701182-11983353
| LOC126862502, LOC126862503, LOC132090484, LOC132090485, LOC132090894, LOC130060295, LOC130060296, LOC126862504, LOC126862505, ADPRM, DHRS7C, LOC126862506, LOC126862507, LOC129390836, LOC129390837, LOC130060290, LOC130060291, LOC130060292, LOC130060293, LOC130060294, DNAH9, GAS7, GLP2R, GSG1L2, LOC101928350, LOC108254670, LOC112529894, LOC112529895, LOC121852922, LOC121852923, LOC125177419, LOC126862490, LOC126862491, LOC126862492, LOC126862493, LOC126862494, LOC126862495, LOC126862496, LOC126862497, LOC126862498, LOC126862499, LOC126862500, LOC126862501, MYH1, MYH13, MYH2, MYH3, MYH4, MYH8, MYHAS, PIRT, RCVRN, SCO1, SHISA6, TMEM220, TMEM220-AS1, TMEM238L, USP43, ZNF18 | | Ductal breast carcinoma | Uncertain significance (Jul 20, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr17:10795576-17867596
- GRCh38:
- Chr17:10892259-17964282
| LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC132090454, LOC132090455, LOC132090456, LOC132090457, LOC132090458, LOC284191, LRRC75A, MAP2K4, MED9, MGC12916, MIR1269B, MIR1288, MIR33B, MIR4731, MIR548H3, MIR6777, MIR744, MPRIP, MYOCD, MYOCD-AS1, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, RAI1, RAI1-AS1, RASD1, SHISA6, SMCR2, SMCR5, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D26, TBC1D26-AS1, TEKT3, TNFRSF13B, TOM1L2, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, ZNF18, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7, ADORA2B, ARHGAP44, ARHGAP44-AS1, CCDC144A, CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, CENPV, COPS3, COX10, COX10-DT, DNAH9, ELAC2, FAM106C, FBXW10B, FLCN, HS3ST3A1, HS3ST3B1, LINC00670, LINC02087, LINC02090, LINC02093, LOC101928350, LOC101928475, LOC105943586, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC110121380, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121852924, LOC125177420, LOC125177421, LOC125177425, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC126862502, LOC126862503, LOC126862504, LOC126862505, LOC126862506, LOC126862507, LOC126862508, LOC126862509, LOC126862510, LOC126862511, LOC126862512, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC129390836, LOC129390837, LOC129390838, LOC129390839, LOC129390840, LOC129390841, LOC129390842, LOC129390843, LOC130060297, LOC130060298, LOC130060299, LOC130060300, LOC130060301, LOC130060302, LOC130060303, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501730
- GRCh38:
- Chr17:11598413
| DNAH9 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501818
- GRCh38:
- Chr17:11598501
| DNAH9 | M1I | not provided | Uncertain significance (Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501821-11501841
- GRCh38:
- Chr17:11598504-11598524
| DNAH9 | | not provided | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501822
- GRCh38:
- Chr17:11598505
| DNAH9 | L3F | not provided | Uncertain significance (Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501830
- GRCh38:
- Chr17:11598513
| DNAH9 | | not provided | Likely benign (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501834-11501856
- GRCh38:
- Chr17:11598517-11598539
| DNAH9 | R7fs | not provided | Pathogenic (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501839
- GRCh38:
- Chr17:11598522
| DNAH9 | | not provided | Likely benign (May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501839
- GRCh38:
- Chr17:11598522
| DNAH9 | | not provided | Likely benign (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501845
- GRCh38:
- Chr17:11598528
| DNAH9 | | not provided | Likely benign (Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501854
- GRCh38:
- Chr17:11598537
| DNAH9 | E13D | Inborn genetic diseases, not provided, Ciliary dyskinesia, primary, 40
| Uncertain significance (Nov 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:11501856-11501857
- GRCh38:
- Chr17:11598539-11598540
| DNAH9 | R24fs | not provided | Benign (Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:11501857
- GRCh38:
- Chr17:11598540
| DNAH9 | N14K | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity (Apr 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:11501875
- GRCh38:
- Chr17:11598558
| DNAH9 | | not provided | Likely benign (Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501884
- GRCh38:
- Chr17:11598567
| DNAH9 | | not provided | Benign (Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501885
- GRCh38:
- Chr17:11598568
| DNAH9 | R24G | not provided, Inborn genetic diseases | Uncertain significance (Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:11501887
- GRCh38:
- Chr17:11598570
| DNAH9 | | not provided | Likely benign (Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501915
- GRCh38:
- Chr17:11598598
| DNAH9 | M34V | not provided | Uncertain significance (Jun 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501928
- GRCh38:
- Chr17:11598611
| DNAH9 | P38L | Inborn genetic diseases | Uncertain significance (May 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501939
- GRCh38:
- Chr17:11598622
| DNAH9 | A42S | not provided | Uncertain significance (Dec 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501968
- GRCh38:
- Chr17:11598651
| DNAH9 | E51D | not provided | Uncertain significance (Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501971
- GRCh38:
- Chr17:11598654
| DNAH9 | | not provided | Likely benign (Sep 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501973
- GRCh38:
- Chr17:11598656
| DNAH9 | E53A | not provided | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501992
- GRCh38:
- Chr17:11598675
| DNAH9 | F59L | not provided | Uncertain significance (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501995
- GRCh38:
- Chr17:11598678
| DNAH9 | | not provided | Likely benign (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501995
- GRCh38:
- Chr17:11598678
| DNAH9 | | not provided | Benign (Nov 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11501996
- GRCh38:
- Chr17:11598679
| DNAH9 | G61R | not provided | Uncertain significance (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502002
- GRCh38:
- Chr17:11598685
| DNAH9 | D63H | not provided | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502023
- GRCh38:
- Chr17:11598706
| DNAH9 | P70S | not provided | Benign (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:11502028
- GRCh38:
- Chr17:11598711
| DNAH9 | | not provided | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502029
- GRCh38:
- Chr17:11598712
| DNAH9 | | not provided | Likely benign (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502035
- GRCh38:
- Chr17:11598718
| DNAH9 | V74M | not provided | Uncertain significance (Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502036
- GRCh38:
- Chr17:11598719
| DNAH9 | V74G | not provided | Uncertain significance (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502043
- GRCh38:
- Chr17:11598726
| DNAH9 | | not provided | Likely benign (Jul 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502049
- GRCh38:
- Chr17:11598732
| DNAH9 | | not provided | Likely benign (Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502049
- GRCh38:
- Chr17:11598732
| DNAH9 | | not provided | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502050
- GRCh38:
- Chr17:11598733
| DNAH9 | R79G | not provided | Uncertain significance (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502060
- GRCh38:
- Chr17:11598743
| DNAH9 | A82V | Inborn genetic diseases | Uncertain significance (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502065
- GRCh38:
- Chr17:11598748
| DNAH9 | R84C | Ciliary dyskinesia, primary, 40, not provided | Conflicting interpretations of pathogenicity (Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:11502068
- GRCh38:
- Chr17:11598751
| DNAH9 | P85S | not provided, Inborn genetic diseases | Uncertain significance (Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:11502072
- GRCh38:
- Chr17:11598755
| DNAH9 | G86A | not provided | Uncertain significance (Jul 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502076
- GRCh38:
- Chr17:11598759
| DNAH9 | | not provided | Benign (Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502086
- GRCh38:
- Chr17:11598769
| DNAH9 | P91S | Inborn genetic diseases | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502116-11502117
- GRCh38:
- Chr17:11598799-11598800
| DNAH9 | L104fs | Abnormal cardiovascular system morphology, not provided, Ciliary dyskinesia, primary, 40
| Conflicting interpretations of pathogenicity (Aug 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:11502117
- GRCh38:
- Chr17:11598800
| DNAH9 | F103fs | Ciliary dyskinesia, primary, 40, not provided, Ciliary dyskinesia, DNAH9-related condition | Conflicting interpretations of pathogenicity (May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:11502121
- GRCh38:
- Chr17:11598804
| DNAH9 | | Ciliary dyskinesia, primary, 40, not provided | Benign/Likely benign (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:11502123
- GRCh38:
- Chr17:11598806
| DNAH9 | F103S | not provided, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Jul 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:11502123
- GRCh38:
- Chr17:11598806
| DNAH9 | F103C | not provided | Likely benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502123-11502124
- GRCh38:
- Chr17:11598806-11598807
| DNAH9 | L104fs | not provided | Pathogenic (Jul 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502124
- GRCh38:
- Chr17:11598807
| DNAH9 | F103L | not provided | Benign (Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502128
- GRCh38:
- Chr17:11598811
| DNAH9 | R105G | not provided | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502129
- GRCh38:
- Chr17:11598812
| DNAH9 | R105H | Inborn genetic diseases, not provided | Uncertain significance (May 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:11502130
- GRCh38:
- Chr17:11598813
| DNAH9 | | not provided | Likely benign (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502132
- GRCh38:
- Chr17:11598815
| DNAH9 | T106I | not provided | Uncertain significance (Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502134-11502148
- GRCh38:
- Chr17:11598817-11598831
| DNAH9 | | not provided | Uncertain significance (Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502137
- GRCh38:
- Chr17:11598820
| DNAH9 | P108S | not provided | Uncertain significance (May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502179
- GRCh38:
- Chr17:11598862
| DNAH9 | C122G | not provided | Uncertain significance (Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502190
- GRCh38:
- Chr17:11598873
| DNAH9 | | not provided | Likely benign (Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502191
- GRCh38:
- Chr17:11598874
| DNAH9 | P126S | not provided | Uncertain significance (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502193
- GRCh38:
- Chr17:11598876
| DNAH9 | | not provided | Likely benign (Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502202-11502645
- GRCh38:
- Chr17:11598885-11599328
| DNAH9 | | not provided | Likely pathogenic (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502203
- GRCh38:
- Chr17:11598886
| DNAH9 | | not provided | Likely benign (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502209
- GRCh38:
- Chr17:11598892
| DNAH9 | H132D | not provided | Likely benign (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502210
- GRCh38:
- Chr17:11598893
| DNAH9 | H132R | not provided | Uncertain significance (Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502217
- GRCh38:
- Chr17:11598900
| DNAH9 | | not provided | Likely benign (Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502221
- GRCh38:
- Chr17:11598904
| DNAH9 | L136V | not provided | Uncertain significance (Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502228
- GRCh38:
- Chr17:11598911
| DNAH9 | S138L | Inborn genetic diseases | Uncertain significance (Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502240
- GRCh38:
- Chr17:11598923
| DNAH9 | | not provided | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502259
- GRCh38:
- Chr17:11598942
| DNAH9 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11502403
- GRCh38:
- Chr17:11599086
| DNAH9 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511411
- GRCh38:
- Chr17:11608094
| DNAH9 | | not provided | Benign (May 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511412
- GRCh38:
- Chr17:11608095
| DNAH9 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511427
- GRCh38:
- Chr17:11608110
| DNAH9 | | not provided | Benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511432
- GRCh38:
- Chr17:11608115
| DNAH9 | | not provided | Benign (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511441
- GRCh38:
- Chr17:11608124
| DNAH9 | | not provided | Likely benign (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511457
- GRCh38:
- Chr17:11608140
| DNAH9 | | Ciliary dyskinesia, primary, 40, not specified, not provided
| Benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:11511474
- GRCh38:
- Chr17:11608157
| DNAH9 | K149T | not provided | Uncertain significance (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511480
- GRCh38:
- Chr17:11608163
| DNAH9 | R151H | not provided | Benign (Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:11511484
- GRCh38:
- Chr17:11608167
| DNAH9 | | not provided | Likely benign (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511486
- GRCh38:
- Chr17:11608169
| DNAH9 | N153T | Inborn genetic diseases | Uncertain significance (May 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511497
- GRCh38:
- Chr17:11608180
| DNAH9 | M157V | not provided | Uncertain significance (Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511514
- GRCh38:
- Chr17:11608197
| DNAH9 | | not provided | Likely benign (Feb 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511523
- GRCh38:
- Chr17:11608206
| DNAH9 | | not provided | Likely benign (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511524
- GRCh38:
- Chr17:11608207
| DNAH9 | A166T | not provided | Uncertain significance (Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511530
- GRCh38:
- Chr17:11608213
| DNAH9 | S168C | not provided | Uncertain significance (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511563
- GRCh38:
- Chr17:11608246
| DNAH9 | Q179E | Inborn genetic diseases | Uncertain significance (May 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511641
- GRCh38:
- Chr17:11608324
| DNAH9 | V205L | not provided, Inborn genetic diseases | Uncertain significance (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:11511643-11511644
- GRCh38:
- Chr17:11608326-11608327
| DNAH9 | | DNAH9-related condition | Likely pathogenic (May 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11511652
- GRCh38:
- Chr17:11608335
| DNAH9 | | not provided | Likely benign (Aug 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11513661
- GRCh38:
- Chr17:11610344
| DNAH9 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11513711
- GRCh38:
- Chr17:11610394
| DNAH9 | | not provided | Likely pathogenic (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11513713
- GRCh38:
- Chr17:11610396
| DNAH9 | | not provided, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Jun 29, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:11513722
- GRCh38:
- Chr17:11610405
| DNAH9 | | not provided | Likely benign (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11513742
- GRCh38:
- Chr17:11610425
| DNAH9 | Y215S | not provided | Uncertain significance (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11513748
- GRCh38:
- Chr17:11610431
| DNAH9 | I217T | not provided | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:11513760
- GRCh38:
- Chr17:11610443
| DNAH9 | V221A | not provided | Uncertain significance (Mar 13, 2022) | criteria provided, single submitter |