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Items: 1 to 100 of 1359

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
2.
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 casesPathogenic
(Aug 27, 2012)
no assertion criteria provided
3.
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 casesPathogenic
(Sep 30, 2010)
no assertion criteria provided
4.
GRCh37:
Chr17:9604499-11886670
GRCh38:
Chr17:9701182-11983353
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
5.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr17:11501730
GRCh38:
Chr17:11598413
DNAH9not providedBenign
(May 11, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr17:11501818
GRCh38:
Chr17:11598501
DNAH9M1Inot providedUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr17:11501821-11501841
GRCh38:
Chr17:11598504-11598524
DNAH9not providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr17:11501822
GRCh38:
Chr17:11598505
DNAH9L3Fnot providedUncertain significance
(Apr 29, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr17:11501830
GRCh38:
Chr17:11598513
DNAH9not providedLikely benign
(Jul 26, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr17:11501834-11501856
GRCh38:
Chr17:11598517-11598539
DNAH9R7fsnot providedPathogenic
(May 19, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr17:11501839
GRCh38:
Chr17:11598522
DNAH9not providedLikely benign
(May 24, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr17:11501839
GRCh38:
Chr17:11598522
DNAH9not providedLikely benign
(May 27, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr17:11501845
GRCh38:
Chr17:11598528
DNAH9not providedLikely benign
(Aug 7, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr17:11501854
GRCh38:
Chr17:11598537
DNAH9E13DInborn genetic diseases, not provided, Ciliary dyskinesia, primary, 40
Uncertain significance
(Nov 19, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr17:11501856-11501857
GRCh38:
Chr17:11598539-11598540
DNAH9R24fsnot providedBenign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr17:11501857
GRCh38:
Chr17:11598540
DNAH9N14KInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Apr 25, 2023)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr17:11501875
GRCh38:
Chr17:11598558
DNAH9not providedLikely benign
(Apr 18, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr17:11501884
GRCh38:
Chr17:11598567
DNAH9not providedBenign
(Aug 28, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr17:11501885
GRCh38:
Chr17:11598568
DNAH9R24Gnot provided, Inborn genetic diseasesUncertain significance
(Aug 20, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr17:11501887
GRCh38:
Chr17:11598570
DNAH9not providedLikely benign
(Jun 28, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr17:11501915
GRCh38:
Chr17:11598598
DNAH9M34Vnot providedUncertain significance
(Jun 11, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr17:11501928
GRCh38:
Chr17:11598611
DNAH9P38LInborn genetic diseasesUncertain significance
(May 23, 2023)
criteria provided, single submitter
24.
GRCh37:
Chr17:11501939
GRCh38:
Chr17:11598622
DNAH9A42Snot providedUncertain significance
(Dec 5, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr17:11501968
GRCh38:
Chr17:11598651
DNAH9E51Dnot providedUncertain significance
(Mar 6, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr17:11501971
GRCh38:
Chr17:11598654
DNAH9not providedLikely benign
(Sep 5, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr17:11501973
GRCh38:
Chr17:11598656
DNAH9E53Anot providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr17:11501992
GRCh38:
Chr17:11598675
DNAH9F59Lnot providedUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr17:11501995
GRCh38:
Chr17:11598678
DNAH9not providedLikely benign
(Jun 1, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr17:11501995
GRCh38:
Chr17:11598678
DNAH9not providedBenign
(Nov 3, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr17:11501996
GRCh38:
Chr17:11598679
DNAH9G61Rnot providedUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr17:11502002
GRCh38:
Chr17:11598685
DNAH9D63Hnot providedUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr17:11502023
GRCh38:
Chr17:11598706
DNAH9P70Snot providedBenign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr17:11502028
GRCh38:
Chr17:11598711
DNAH9not providedLikely benign
(Jul 6, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr17:11502029
GRCh38:
Chr17:11598712
DNAH9not providedLikely benign
(Jun 14, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr17:11502035
GRCh38:
Chr17:11598718
DNAH9V74Mnot providedUncertain significance
(Oct 8, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr17:11502036
GRCh38:
Chr17:11598719
DNAH9V74Gnot providedUncertain significance
(Aug 25, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr17:11502043
GRCh38:
Chr17:11598726
DNAH9not providedLikely benign
(Jul 28, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr17:11502049
GRCh38:
Chr17:11598732
DNAH9not providedLikely benign
(Sep 16, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr17:11502049
GRCh38:
Chr17:11598732
DNAH9not providedLikely benign
(Jul 19, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr17:11502050
GRCh38:
Chr17:11598733
DNAH9R79Gnot providedUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr17:11502060
GRCh38:
Chr17:11598743
DNAH9A82VInborn genetic diseasesUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr17:11502065
GRCh38:
Chr17:11598748
DNAH9R84CCiliary dyskinesia, primary, 40, not providedConflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr17:11502068
GRCh38:
Chr17:11598751
DNAH9P85Snot provided, Inborn genetic diseasesUncertain significance
(Oct 3, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr17:11502072
GRCh38:
Chr17:11598755
DNAH9G86Anot providedUncertain significance
(Jul 30, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr17:11502076
GRCh38:
Chr17:11598759
DNAH9not providedBenign
(Oct 19, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr17:11502086
GRCh38:
Chr17:11598769
DNAH9P91SInborn genetic diseasesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr17:11502116-11502117
GRCh38:
Chr17:11598799-11598800
DNAH9L104fsAbnormal cardiovascular system morphology, not provided, Ciliary dyskinesia, primary, 40
Conflicting interpretations of pathogenicity
(Aug 1, 2023)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr17:11502117
GRCh38:
Chr17:11598800
DNAH9F103fsCiliary dyskinesia, primary, 40, not provided, Ciliary dyskinesia,
DNAH9-related condition
Conflicting interpretations of pathogenicity
(May 1, 2023)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr17:11502121
GRCh38:
Chr17:11598804
DNAH9Ciliary dyskinesia, primary, 40, not providedBenign/Likely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr17:11502123
GRCh38:
Chr17:11598806
DNAH9F103Snot provided, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Jul 14, 2023)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr17:11502123
GRCh38:
Chr17:11598806
DNAH9F103Cnot providedLikely benign
(Oct 25, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr17:11502123-11502124
GRCh38:
Chr17:11598806-11598807
DNAH9L104fsnot providedPathogenic
(Jul 11, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr17:11502124
GRCh38:
Chr17:11598807
DNAH9F103Lnot providedBenign
(Oct 21, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr17:11502128
GRCh38:
Chr17:11598811
DNAH9R105Gnot providedUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr17:11502129
GRCh38:
Chr17:11598812
DNAH9R105HInborn genetic diseases, not providedUncertain significance
(May 9, 2023)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr17:11502130
GRCh38:
Chr17:11598813
DNAH9not providedLikely benign
(Sep 13, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr17:11502132
GRCh38:
Chr17:11598815
DNAH9T106Inot providedUncertain significance
(Jun 4, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr17:11502134-11502148
GRCh38:
Chr17:11598817-11598831
DNAH9not providedUncertain significance
(Jul 9, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr17:11502137
GRCh38:
Chr17:11598820
DNAH9P108Snot providedUncertain significance
(May 17, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr17:11502179
GRCh38:
Chr17:11598862
DNAH9C122Gnot providedUncertain significance
(Feb 12, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr17:11502190
GRCh38:
Chr17:11598873
DNAH9not providedLikely benign
(Apr 15, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr17:11502191
GRCh38:
Chr17:11598874
DNAH9P126Snot providedUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr17:11502193
GRCh38:
Chr17:11598876
DNAH9not providedLikely benign
(Feb 5, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr17:11502202-11502645
GRCh38:
Chr17:11598885-11599328
DNAH9not providedLikely pathogenic
(Jul 12, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr17:11502203
GRCh38:
Chr17:11598886
DNAH9not providedLikely benign
(Oct 7, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr17:11502209
GRCh38:
Chr17:11598892
DNAH9H132Dnot providedLikely benign
(Jun 9, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr17:11502210
GRCh38:
Chr17:11598893
DNAH9H132Rnot providedUncertain significance
(Jun 23, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr17:11502217
GRCh38:
Chr17:11598900
DNAH9not providedLikely benign
(Aug 28, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr17:11502221
GRCh38:
Chr17:11598904
DNAH9L136Vnot providedUncertain significance
(Apr 16, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr17:11502228
GRCh38:
Chr17:11598911
DNAH9S138LInborn genetic diseasesUncertain significance
(Sep 16, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr17:11502240
GRCh38:
Chr17:11598923
DNAH9not providedLikely benign
(Sep 23, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr17:11502259
GRCh38:
Chr17:11598942
DNAH9not providedBenign
(May 11, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr17:11502403
GRCh38:
Chr17:11599086
DNAH9not providedBenign
(May 11, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr17:11511411
GRCh38:
Chr17:11608094
DNAH9not providedBenign
(May 20, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr17:11511412
GRCh38:
Chr17:11608095
DNAH9not providedBenign
(May 11, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr17:11511427
GRCh38:
Chr17:11608110
DNAH9not providedBenign
(Sep 27, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr17:11511432
GRCh38:
Chr17:11608115
DNAH9not providedBenign
(Jul 17, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr17:11511441
GRCh38:
Chr17:11608124
DNAH9not providedLikely benign
(Sep 13, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr17:11511457
GRCh38:
Chr17:11608140
DNAH9Ciliary dyskinesia, primary, 40, not specified, not provided
Benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr17:11511474
GRCh38:
Chr17:11608157
DNAH9K149Tnot providedUncertain significance
(May 12, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr17:11511480
GRCh38:
Chr17:11608163
DNAH9R151Hnot providedBenign
(Oct 23, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr17:11511484
GRCh38:
Chr17:11608167
DNAH9not providedLikely benign
(Sep 2, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr17:11511486
GRCh38:
Chr17:11608169
DNAH9N153TInborn genetic diseasesUncertain significance
(May 5, 2023)
criteria provided, single submitter
85.
GRCh37:
Chr17:11511497
GRCh38:
Chr17:11608180
DNAH9M157Vnot providedUncertain significance
(Jan 16, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr17:11511514
GRCh38:
Chr17:11608197
DNAH9not providedLikely benign
(Feb 9, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr17:11511523
GRCh38:
Chr17:11608206
DNAH9not providedLikely benign
(Jun 14, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr17:11511524
GRCh38:
Chr17:11608207
DNAH9A166Tnot providedUncertain significance
(Apr 17, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr17:11511530
GRCh38:
Chr17:11608213
DNAH9S168Cnot providedUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr17:11511563
GRCh38:
Chr17:11608246
DNAH9Q179EInborn genetic diseasesUncertain significance
(May 23, 2023)
criteria provided, single submitter
91.
GRCh37:
Chr17:11511641
GRCh38:
Chr17:11608324
DNAH9V205Lnot provided, Inborn genetic diseasesUncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr17:11511643-11511644
GRCh38:
Chr17:11608326-11608327
DNAH9DNAH9-related conditionLikely pathogenic
(May 24, 2023)
criteria provided, single submitter
93.
GRCh37:
Chr17:11511652
GRCh38:
Chr17:11608335
DNAH9not providedLikely benign
(Aug 18, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr17:11513661
GRCh38:
Chr17:11610344
DNAH9not providedBenign
(May 11, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr17:11513711
GRCh38:
Chr17:11610394
DNAH9not providedLikely pathogenic
(Dec 2, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr17:11513713
GRCh38:
Chr17:11610396
DNAH9not provided, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Jun 29, 2023)
criteria provided, conflicting interpretations
97.
GRCh37:
Chr17:11513722
GRCh38:
Chr17:11610405
DNAH9not providedLikely benign
(Jun 14, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr17:11513742
GRCh38:
Chr17:11610425
DNAH9Y215Snot providedUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr17:11513748
GRCh38:
Chr17:11610431
DNAH9I217Tnot providedUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr17:11513760
GRCh38:
Chr17:11610443
DNAH9V221Anot providedUncertain significance
(Mar 13, 2022)
criteria provided, single submitter
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