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Items: 1 to 100 of 388

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:
Chr17:525-5838697
GRCh38:
Chr17:150732-5935377
MIR22HG, MIR3183, MIR6776, MIR6864, MIR6865, MIS12, MNT, MRM3, MYBBP1A, MYO1C, NCBP3, NLRP1, NUP88, NXN, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PFN1, PITPNA, PITPNA-AS1, PLD2, PRPF8, PSMB6, RABEP1, RAP1GAP2, RFLNB, RILP, RNF167, RPA1, RPAIN, RPH3AL, RPH3AL-AS1, RTN4RL1, SCARF1, SCIMP, SERPINF1, SERPINF2, SGSM2, SHPK, SLC25A11, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORD91A, SNORD91B, SPAG7, SPATA22, SPNS2, SPNS3, SRR, TAX1BP3, TIMM22, TLCD2, TLCD3A, TM4SF5, TRARG1, TRPV1, TRPV3, TSR1, UBE2G1, USP6, VMO1, VPS53, WDR81, YWHAE, ZFP3, ZFP3-DT, ZMYND15, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1, ABR, ABR-AS1, ALOX15, ANKFY1, ARRB2, ASPA, ATP2A3, BHLHA9, C17orf107, C17orf114, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC92B, CHRNE, CLUH, CRK, CTNS, CTNS-AS1, CXCL16, CYB5D2, DERL2, DHX33, DHX33-DT, DOC2B, DPH1, EMC6, ENO3, GEMIN4, GGT6, GLOD4, GLTPD2, GP1BA, HASPIN, HIC1, INCA1, INPP5K, ITGAE, KIF1C, KIF1C-AS1, LIAT1, LINC01975, LINC01996, LINC02091, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC105371430, LOC105371485, LOC105371490, LOC105371592, LOC106799838, LOC107984973, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC112529892, LOC112529893, LOC112529901, LOC112529915, LOC121587568, LOC121587569, LOC121587570, LOC121587571, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC126862467, LOC126862468, LOC126862469, LOC126862470, LOC126862471, LOC126862472, LOC126862473, LOC126862474, LOC126862475, LOC126862476, LOC129390818, LOC129390819, LOC129390820, LOC129390821, LOC129390822, LOC129390823, LOC129390824, LOC129390825, LOC129390826, LOC129390827, LOC129390828, 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, LOC132090460, LOC132090461, LOC132090462, LOC132090463, LOC132090464, LOC132090465, LOC132090466, LOC132090467, LOC132090468, LOC132090469, LOC132090470, LOC132090471, LOC132090472, LOC132090473, LOC132090474, LOC132090475, LOC132090483, LOC132090892, LOC132090893, LOC284009, LOC339166, LOC728392, MED11, METTL16, MINK1, MIR1253, MIR132, MIR212, MIR22
See casesPathogenic
(Apr 23, 2013)
no assertion criteria provided
3.
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
4.
GRCh37:
Chr17:45835-7600330
GRCh38:
Chr17:162016-7697012
ABR, ABR-AS1, ACADVL, ACAP1, AIPL1, ALOX12, ALOX12-AS1, ALOX15, ANKFY1, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, BCL6B, BHLHA9, C17orf100, C17orf107, C17orf114, C17orf49, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC92B, CD68, CHRNB1, CHRNE, CLDN7, CLEC10A, CLUH, CRK, CTDNEP1, CTNS, CTNS-AS1, CXCL16, CYB5D2, DERL2, DHX33, DHX33-DT, DLG4, DOC2B, DPH1, DVL2, EIF4A1, EIF5A, ELP5, EMC6, ENO3, FBXO39, FGF11, FXR2, GABARAP, GEMIN4, GGT6, GLOD4, GLTPD2, GP1BA, GPS2, HASPIN, HIC1, INCA1, INPP5K, ITGAE, KCTD11, KIAA0753, KIF1C, KIF1C-AS1, LIAT1, LINC01975, LINC01996, LINC02091, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC105371430, LOC105371485, LOC105371490, LOC105371592, LOC106799838, LOC107984973, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC111556120, LOC112529892, LOC112529893, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC112533664, LOC121587568, LOC121587569, LOC121587570, LOC121587571, LOC121587572, LOC121587573, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC121852920, LOC122526780, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC125177411, LOC125177412, 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, LOC129390818, LOC129390819, LOC129390820, LOC129390821, LOC129390822, LOC129390823, LOC129390824, LOC129390825, LOC129390826, LOC129390827, LOC129390828, LOC129390829, LOC129390830, LOC129390831, 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, LOC132090460, LOC132090461, LOC132090462, LOC132090463, LOC132090464, LOC132090465, LOC132090466, LOC132090467, LOC132090468, LOC132090469, LOC132090470, LOC132090471, LOC132090472, LOC132090473, LOC132090474, LOC132090475, LOC132090476, LOC132090483, LOC132090892, LOC132090893, LOC284009, LOC339166, LOC728392, MED11, MED31, METTL16, MINK1, MIR1253, MIR132, MIR195, MIR212, MIR22, MIR22HG, MIR3183, MIR324, MIR4520-1, MIR4520-2, MIR497, MIR497HG, MIR6776, MIR6864, MIR6865, MIS12, MNT, MPDU1, MPDU1-AS1, MRM3, MYBBP1A, MYO1C, NCBP3, NEURL4, NLGN2, NLRP1, NUP88, NXN, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PFN1, PHF23, PIMREG, PITPNA, PITPNA-AS1, PITPNM3, PLD2, PLSCR3, POLR2A, PRPF8, PSMB6, RABEP1, RAP1GAP2, RFLNB, RILP, RNASEK, RNASEK-C17orf49, RNF167, RPA1, RPAIN, RPH3AL, RPH3AL-AS1, RTN4RL1, SAT2, SCARF1, SCIMP, SENP3, SENP3-EIF4A1, SERPINF1, SERPINF2, SGSM2, SHBG, SHPK, SLC13A5, SLC16A11, SLC16A13, SLC25A11, SLC2A4, SLC35G6, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORA48, SNORA67, SNORD10, SNORD91A, SNORD91B, SOX15, SPAG7, SPATA22, SPEM1, SPEM2, SPEM3, SPNS2, SPNS3, SRR, TAX1BP3, TEKT1, TIMM22, TLCD2, TLCD3A, TM4SF5, TMEM102, TMEM256, TMEM256-PLSCR3, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRARG1, TRPV1, TRPV3, TSR1, TXNDC17, UBE2G1, USP6, VMO1, VPS53, WDR81, WRAP53, WSCD1, XAF1, YBX2, YWHAE, ZBTB4, ZFP3, ZFP3-DT, ZMYND15, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1
See casesPathogenic
(Mar 9, 2012)
no assertion criteria provided
5.
GRCh37:
Chr17:45835-6862369
GRCh38:
Chr17:162088-6959050
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, LOC132090460, LOC132090461, LOC132090462, LOC132090463, LOC132090464, LOC132090465, LOC132090466, LOC132090467, LOC132090468, LOC132090469, LOC132090470, LOC132090471, LOC132090472, LOC132090473, LOC132090474, LOC132090475, LOC132090483, LOC132090892, LOC132090893, LOC284009, LOC339166, LOC728392, MED11, MED31, METTL16, MINK1, MIR1253, MIR132, MIR212, MIR22, MIR22HG, MIR3183, MIR4520-1, MIR4520-2, MIR6776, MIR6864, MIR6865, MIS12, MNT, MRM3, MYBBP1A, MYO1C, NCBP3, NLRP1, NUP88, NXN, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PFN1, PIMREG, RABEP1, PITPNA, PITPNA-AS1, PITPNM3, PLD2, PRPF8, PSMB6, RAP1GAP2, RFLNB, RILP, RNF167, RPA1, RPAIN, RPH3AL, RPH3AL-AS1, RTN4RL1, SCARF1, SCIMP, SERPINF1, SERPINF2, SGSM2, SHPK, SLC13A5, SLC25A11, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORD91A, SNORD91B, SPAG7, SPATA22, SPNS2, SPNS3, SRR, TAX1BP3, TEKT1, TIMM22, TLCD2, TLCD3A, TM4SF5, TRARG1, TRPV1, TRPV3, TSR1, TXNDC17, UBE2G1, USP6, VMO1, VPS53, WDR81, WSCD1, XAF1, YWHAE, ZFP3, ZFP3-DT, ZMYND15, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1, ABR, ABR-AS1, AIPL1, ALOX15, ANKFY1, ARRB2, ASPA, ATP2A3, BHLHA9, C17orf100, C17orf107, C17orf114, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC92B, CHRNE, CLUH, CRK, CTNS, CTNS-AS1, CXCL16, CYB5D2, DERL2, DHX33, DHX33-DT, DOC2B, DPH1, EMC6, ENO3, FBXO39, GEMIN4, GGT6, GLOD4, GLTPD2, GP1BA, HASPIN, HIC1, INCA1, INPP5K, ITGAE, KIAA0753, KIF1C, KIF1C-AS1, LIAT1, LINC01975, LINC01996, LINC02091, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC105371430, LOC105371485, LOC105371490, LOC105371592, LOC106799838, LOC107984973, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC111556120, LOC112529892, LOC112529893, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC121587568, LOC121587569, LOC121587570, LOC121587571, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC122526780, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC125177411, LOC125177412, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC126862467, LOC126862468, LOC126862469, LOC126862470, LOC126862471, LOC126862472, LOC126862473, LOC126862474, LOC126862475, LOC126862476, LOC126862477, LOC129390818, LOC129390819, LOC129390820, LOC129390821, LOC129390822, LOC129390823, LOC129390824, LOC129390825, LOC129390826, LOC129390827, LOC129390828, LOC129390829, LOC129390830, LOC130059857, LOC130059858, LOC130059859, LOC130059860, LOC130059861, LOC130059862, LOC130059863, LOC130059864, LOC130059865
See casesPathogenic
(Jun 30, 2010)
no assertion criteria provided
6.
GRCh38:
Chr17:165730-11404096
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, 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, 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, LOC126862499, LOC126862500, LOC126862501, LOC126862502, LOC126862503, LOC129390818, LOC129390819, LOC129390820, LOC129390821, LOC129390822, LOC129390823, LOC129390824, LOC129390825, LOC129390826, LOC129390827, LOC129390828, LOC129390829, LOC129390830, LOC129390831, LOC129390832, LOC129390833, LOC129390834, LOC129390835, 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, MED11, MED31, METTL16, MFSD6L, MINK1, MIR1253, MIR132, MIR195, MIR212, MIR22, MIR22HG, MIR3183, MIR324, MIR4314, MIR4520-1, MIR4520-2, MIR4521, MIR497, MIR497HG, MIR6776, MIR6864, MIR6865, MIR6883, 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-AS1, YWHAE, ZBTB4, ZFP3, ZFP3-DT, ZMYND15, ZNF232, ZNF594, ZNF594-DT, ZZEF1
Chromosome 17p13.3 duplication syndromePathogenic
(Aug 24, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr17:45835-5555542
GRCh38:
Chr17:193307-5652222
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, LOC132090460, LOC132090461, LOC132090462, LOC132090463, LOC132090464, LOC132090465, LOC132090466, LOC132090467, LOC132090468, LOC132090469, LOC132090470, LOC132090471, LOC132090472, LOC132090473, LOC132090474, LOC132090475, LOC132090483, LOC132090892, LOC132090893, LOC284009, LOC728392, MED11, METTL16, MINK1, MIR1253, MIR132, MIR212, MIR22, MIR22HG, MIR3183, MIR6776, MIR6864, MIR6865, MIS12, MNT, MRM3, MYBBP1A, MYO1C, NCBP3, NLRP1, NUP88, NXN, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PFN1, PITPNA, PITPNA-AS1, PLD2, PRPF8, PSMB6, RABEP1, RAP1GAP2, RFLNB, RILP, RNF167, RPA1, RPAIN, RPH3AL, RPH3AL-AS1, RTN4RL1, SCARF1, SCIMP, SERPINF1, SERPINF2, SGSM2, SHPK, SLC25A11, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORD91A, SNORD91B, SPAG7, SPATA22, SPNS2, SPNS3, SRR, TAX1BP3, TIMM22, TLCD2, TLCD3A, TM4SF5, TRARG1, TRPV1, TRPV3, TSR1, UBE2G1, USP6, VMO1, VPS53, WDR81, YWHAE, ZFP3, ZFP3-DT, ZMYND15, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1, ATP2A3, ABR, ABR-AS1, ALOX15, ANKFY1, ARRB2, ASPA, BHLHA9, C17orf107, C17orf114, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC92B, CHRNE, CLUH, CRK, CTNS, CTNS-AS1, CXCL16, CYB5D2, DERL2, DHX33, DHX33-DT, DPH1, EMC6, ENO3, GEMIN4, GGT6, GLOD4, GLTPD2, GP1BA, HASPIN, HIC1, INCA1, INPP5K, ITGAE, KIF1C, KIF1C-AS1, LIAT1, LINC01975, LINC01996, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC105371430, LOC105371485, LOC105371490, LOC105371592, LOC106799838, LOC107984973, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC112529892, LOC112529893, LOC112529901, LOC112529915, LOC121587568, LOC121587569, LOC121587570, LOC121587571, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC126862467, LOC126862468, LOC126862469, LOC126862470, LOC126862471, LOC126862472, LOC126862473, LOC126862474, LOC126862475, LOC129390818, LOC129390819, LOC129390820, LOC129390821, LOC129390822, LOC129390823, LOC129390824, LOC129390825, LOC129390826, LOC129390827, LOC129390828, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr17:50690-4168935
GRCh38:
Chr17:198748-4265640
HIC1, INPP5K, ITGAE, LIAT1, LINC01975, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC105371430, LOC105371485, LOC105371490, LOC105371592, LOC106799838, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC112529892, LOC112529893, LOC112529901, LOC121587568, LOC121587569, LOC121587570, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC126862454, LOC126862455, LOC126862456, LOC126862457, LOC126862458, LOC126862459, LOC126862460, LOC126862461, LOC126862462, LOC126862463, LOC126862464, LOC126862465, LOC126862466, LOC129390818, LOC129390819, LOC129390820, LOC129390821, LOC129390822, LOC129390823, LOC129390824, LOC129390825, 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, LOC132090483, LOC132090892, LOC284009, METTL16, MIR1253, MIR132, MIR212, MIR22, MIR22HG, MIR3183, MIR6776, MNT, MRM3, MYO1C, NCBP3, NXN, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PITPNA, PITPNA-AS1, PRPF8, RAP1GAP2, RFLNB, RILP, RPA1, RPH3AL, RPH3AL-AS1, RTN4RL1, SCARF1, SERPINF1, SERPINF2, SGSM2, SHPK, SLC43A2, SMG6, SMYD4, SNORD91A, SNORD91B, SPATA22, SRR, TAX1BP3, TIMM22, TLCD2, TLCD3A, TRARG1, TRPV1, TRPV3, TSR1, VPS53, WDR81, YWHAE, ZZEF1, ABR, ABR-AS1, ANKFY1, ASPA, ATP2A3, BHLHA9, CAMKK1, CCDC92B, CLUH, CRK, CTNS, CTNS-AS1, CYB5D2, DPH1, EMC6, GEMIN4, GLOD4, HASPIN
See casesPathogenic
(Aug 18, 2010)
no assertion criteria provided
9.
GRCh37:
Chr17:50690-7394448
GRCh38:
Chr17:198748-7491129
YWHAE, ZBTB4, ZFP3, ZFP3-DT, ABR, ABR-AS1, ACADVL, ACAP1, AIPL1, ALOX12, ALOX12-AS1, ALOX15, ANKFY1, ARRB2, ASGR1, ASGR2, ASPA, ATP2A3, BCL6B, BHLHA9, C17orf100, C17orf107, C17orf114, C17orf49, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC92B, CHRNB1, CHRNE, CLDN7, CLEC10A, CLUH, CRK, CTDNEP1, CTNS, CTNS-AS1, CXCL16, CYB5D2, DERL2, DHX33, DHX33-DT, DLG4, DPH1, DVL2, EIF5A, ELP5, EMC6, ENO3, FBXO39, FGF11, GABARAP, GEMIN4, GGT6, GLOD4, GLTPD2, GP1BA, GPS2, HASPIN, HIC1, INCA1, INPP5K, ITGAE, KCTD11, KIAA0753, KIF1C, KIF1C-AS1, LIAT1, LINC01975, LINC01996, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC105371430, LOC105371485, LOC105371490, LOC105371592, LOC106799838, LOC107984973, LOC107988047, LOC110120951, LOC110121369, LOC111413025, LOC111556120, LOC112529892, LOC112529893, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC112533664, LOC121587568, LOC121587569, LOC121587570, LOC121587571, LOC121587572, LOC121587573, LOC121848002, LOC121848003, LOC121848004, LOC121848005, LOC121848006, LOC121852920, LOC122526780, LOC125177398, LOC125177399, LOC125177400, LOC125177401, LOC125177403, LOC125177404, LOC125177405, LOC125177406, LOC125177407, LOC125177408, LOC125177409, LOC125177410, LOC125177411, LOC125177412, 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, LOC129390818, LOC129390819, LOC129390820, LOC129390821, LOC129390822, LOC129390823, LOC129390824, LOC129390825, LOC129390826, LOC129390827, LOC129390828, LOC129390829, LOC129390830, 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,