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Items: 1 to 100 of 2977

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:
Chr17:45835-7600330
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
4.
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
5.
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
6.
GRCh37:
Chr17:5636297-7942140
GRCh38:
Chr17:5732977-8038822
ACADVL, ACAP1, AIPL1, ALOX12, ALOX12-AS1, ASGR1, ASGR2, ATP1B2, BCL6B, C17orf100, C17orf49, CD68, CHD3, CHRNB1, CLDN7, CLEC10A, CNTROB, CTDNEP1, CYB5D1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, GUCY2D, KCNAB3, KCTD11, KDM6B, KIAA0753, LOC111556120, LOC112533656, LOC112533657, LOC112533664, LOC112533665, LOC121587572, LOC121587573, LOC121587574, LOC121852920, LOC122526780, LOC124904106, LOC125177411, LOC125177412, LOC126862476, LOC126862477, LOC126862478, LOC126862479, LOC126862480, LOC126862481, LOC126862482, LOC126862483, LOC126862484, LOC129390829, LOC129390830, LOC129390831, LOC129390832, 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, LOC132090476, LOC339166, MED31, MIR195, MIR324, MIR4520-1, MIR4520-2, MIR497, MIR497HG, MPDU1, MPDU1-AS1, NAA38, NEURL4, NLGN2, PHF23, PIMREG, PITPNM3, PLSCR3, POLR2A, RNASEK, RNASEK-C17orf49, RNF227, SAT2, SCARNA21, SENP3, SENP3-EIF4A1, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SNORA48, SNORA67, SNORD10, SOX15, SPEM1, SPEM2, SPEM3, TEKT1, TMEM102, TMEM256, TMEM256-PLSCR3, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TXNDC17, WRAP53, WSCD1, XAF1, YBX2, ZBTB4
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr17:6264713-7654181
GRCh38:
Chr17:6361393-7750863
ACADVL, ACAP1, AIPL1, ALOX12, ALOX12-AS1, ASGR1, ASGR2, ATP1B2, BCL6B, C17orf100, C17orf49, CD68, CHRNB1, CLDN7, CLEC10A, CTDNEP1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, KCTD11, KIAA0753, LOC111556120, LOC112533657, LOC112533664, LOC121587572, LOC121587573, LOC121852920, LOC122526780, LOC126862477, LOC126862478, LOC126862479, LOC126862480, LOC126862481, LOC126862482, LOC126862483, LOC129390831, 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, LOC132090476, MED31, MIR195, MIR324, MIR4520-1, MIR4520-2, MIR497, MIR497HG, MPDU1, MPDU1-AS1, NEURL4, NLGN2, PHF23, PIMREG, PITPNM3, PLSCR3, POLR2A, RNASEK, RNASEK-C17orf49, SAT2, SENP3, SENP3-EIF4A1, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SNORA48, SNORA67, SNORD10, SOX15, SPEM1, SPEM2, SPEM3, TEKT1, TMEM102, TMEM256, TMEM256-PLSCR3, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TXNDC17, WRAP53, XAF1, YBX2, ZBTB4
See casesLikely pathogenic
(Mar 9, 2012)
no assertion criteria provided
8.
GRCh37:
Chr17:7381514-8338842
GRCh38:
Chr17:7478195-8435524
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, ATP1B2, AURKB, BORCS6, CD68, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, EIF4A1, FXR2, GUCY2D, HES7, KCNAB3, KDM6B, KRBA2, LINC00324, LOC100128288, LOC105371520, LOC106794092, LOC111828490, LOC112533665, LOC112533683, LOC116276454, LOC121587574, LOC121587575, LOC124904106, LOC126862481, LOC126862482, LOC126862483, LOC126862484, LOC126862485, LOC129390831, LOC129390832, 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, MIR4314, MIR4521, MIR6883, MPDU1, MPDU1-AS1, NAA38, NDEL1, ODF4, PER1, PFAS, POLR2A, RANGRF, RNF222, RNF227, RPL26, SAT2, SCARNA21, SENP3, SENP3-EIF4A1, SHBG, SLC25A35, SLC35G6, SNORA48, SNORA67, SNORD10, SNORD118, SOX15, TMEM107, TMEM88, TNFSF12, TNFSF12-TNFSF13, TNFSF13, 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, VAMP2, WRAP53, ZBTB4
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr17:7448219-7573899
GRCh38:
Chr17:7544902-7670581
See casesUncertain significance
(Sep 21, 2012)
no assertion criteria provided
10.
GRCh37:
Chr17:7506837-7671804
GRCh38:
Chr17:7603519-7768486
Vascular endothelial growth factor (VEGF) inhibitor responsedrug response
(Nov 27, 2017)
no assertion criteria provided
11.
GRCh37:
Chr17:7571192
GRCh38:
Chr17:7667874
TP53Hereditary cancer-predisposing syndromeLikely benign
(Apr 26, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr17:7571198
GRCh38:
Chr17:7667880
TP53Hereditary cancer-predisposing syndromeLikely benign
(Jul 18, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr17:7571206
GRCh38:
Chr17:7667888
TP53Hereditary cancer-predisposing syndromeLikely benign
(Oct 9, 2019)
criteria provided, single submitter
14.
GRCh37:
Chr17:7571217
GRCh38:
Chr17:7667899
TP53Hereditary cancer-predisposing syndromeLikely benign
(Feb 17, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr17:7571219
GRCh38:
Chr17:7667901
TP53Hereditary cancer-predisposing syndromeLikely benign
(Oct 26, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr17:7571222
GRCh38:
Chr17:7667904
TP53Hereditary cancer-predisposing syndromeLikely benign
(Mar 22, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr17:7571224
GRCh38:
Chr17:7667906
TP53Hereditary cancer-predisposing syndromeLikely benign
(Apr 26, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr17:7571224
GRCh38:
Chr17:7667906
TP53Hereditary cancer-predisposing syndromeLikely benign
(Aug 31, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr17:7571226
GRCh38:
Chr17:7667908
TP53Hereditary cancer-predisposing syndromeBenign
(Apr 15, 2015)
criteria provided, single submitter
20.
GRCh37:
Chr17:7571227
GRCh38:
Chr17:7667909
TP53Hereditary cancer-predisposing syndromeLikely benign
(Nov 22, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr17:7571228
GRCh38:
Chr17:7667910
TP53Hereditary cancer-predisposing syndromeLikely benign
(Jul 26, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr17:7571232
GRCh38:
Chr17:7667914
TP53Hereditary cancer-predisposing syndromeUncertain significance
(Mar 18, 2019)
criteria provided, single submitter
23.
GRCh37:
Chr17:7571241
GRCh38:
Chr17:7667923
TP53Hereditary cancer-predisposing syndromeUncertain significance
(May 21, 2019)
criteria provided, single submitter
24.
GRCh37:
Chr17:7571244
GRCh38:
Chr17:7667926
TP53Hereditary cancer-predisposing syndromeLikely benign
(Dec 6, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr17:7571247
GRCh38:
Chr17:7667929
TP53Hereditary cancer-predisposing syndromeLikely benign
(Oct 7, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr17:7571251
GRCh38:
Chr17:7667933
TP53Hereditary cancer-predisposing syndromeLikely benign
(Feb 21, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr17:7571452
GRCh38:
Chr17:7668134
TP53not providedBenign
(Jun 14, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr17:7571487-7571488
GRCh38:
Chr17:7668169-7668170
TP53Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome,
not provided
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr17:7571520-7571521
GRCh38:
Chr17:7668202-7668203
TP53Li-Fraumeni syndromePathogenic
(May 18, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr17:7571706
GRCh38:
Chr17:7668388
TP53not provided, Li-Fraumeni syndromeLikely benign
(Jul 26, 2019)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr17:7571720-7573008
GRCh38:
Chr17:7668402-7669690
TP53Li-Fraumeni syndromeLikely pathogenic
(Jun 4, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr17:7571720-7590868
GRCh38:
Chr17:7668402-7687550
WRAP53, LOC126862483, LOC130060171, LOC130060172, TP53Li-Fraumeni syndromePathogenic
(Apr 1, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr17:7571752
GRCh38:
Chr17:7668434
TP53Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1
Conflicting interpretations of pathogenicity
(Jul 1, 2023)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr17:7571767
GRCh38:
Chr17:7668449
TP53Li-Fraumeni syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr17:7571795
GRCh38:
Chr17:7668477
TP53not provided, Li-Fraumeni syndrome 1Conflicting interpretations of pathogenicity
(May 1, 2023)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr17:7571857
GRCh38:
Chr17:7668539
TP53Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1
Benign/Likely benign
(Jun 18, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr17:7571950
GRCh38:
Chr17:7668632
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr17:7571991
GRCh38:
Chr17:7668673
TP53Li-Fraumeni syndrome 1Likely benign
(Jan 13, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr17:7572101
GRCh38:
Chr17:7668783
TP53Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1
Benign
(Jun 18, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr17:7572121
GRCh38:
Chr17:7668803
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr17:7572137
GRCh38:
Chr17:7668819
TP53Li-Fraumeni syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr17:7572148
GRCh38:
Chr17:7668830
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr17:7572154
GRCh38:
Chr17:7668836
TP53Li-Fraumeni syndrome 1Benign
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr17:7572155
GRCh38:
Chr17:7668837
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr17:7572166
GRCh38:
Chr17:7668848
TP53Li-Fraumeni syndrome 1Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
46.
GRCh37:
Chr17:7572167
GRCh38:
Chr17:7668849
TP53Li-Fraumeni syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr17:7572173
GRCh38:
Chr17:7668855
TP53Li-Fraumeni syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr17:7572180
GRCh38:
Chr17:7668862
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr17:7572192
GRCh38:
Chr17:7668874
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr17:7572301
GRCh38:
Chr17:7668983
TP53Li-Fraumeni syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr17:7572314
GRCh38:
Chr17:7668996
TP53Li-Fraumeni syndrome 1Benign
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr17:7572357-7572358
GRCh38:
Chr17:7669039-7669040
TP53Li-Fraumeni syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr17:7572362
GRCh38:
Chr17:7669044
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr17:7572379
GRCh38:
Chr17:7669061
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr17:7572442
GRCh38:
Chr17:7669124
TP53Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1
Benign
(Jun 18, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr17:7572518
GRCh38:
Chr17:7669200
TP53Li-Fraumeni syndrome 1Likely benign
(Jan 13, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr17:7572545
GRCh38:
Chr17:7669227
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr17:7572570
GRCh38:
Chr17:7669252
TP53Li-Fraumeni syndrome 1Likely benign
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr17:7572580
GRCh38:
Chr17:7669262
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr17:7572581
GRCh38:
Chr17:7669263
TP53Li-Fraumeni syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr17:7572599
GRCh38:
Chr17:7669281
TP53Li-Fraumeni syndrome 1Benign
(Mar 6, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr17:7572600
GRCh38:
Chr17:7669282
TP53Li-Fraumeni syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr17:7572722
GRCh38:
Chr17:7669404
TP53Li-Fraumeni syndrome 1Benign
(Jan 13, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr17:7572759
GRCh38:
Chr17:7669441
TP53Li-Fraumeni syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr17:7572783
GRCh38:
Chr17:7669465
TP53Li-Fraumeni syndrome 1Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
66.
GRCh37:
Chr17:7572828
GRCh38:
Chr17:7669510
TP53Li-Fraumeni syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr17:7572906-7579931
GRCh38:
Chr17:7669588-7676613
TP53M1fsChronic lymphatic leukemiaPathogenic
(Mar 19, 2021)
no assertion criteria provided
68.
GRCh37:
Chr17:7572911
GRCh38:
Chr17:7669593
TP53not specifiedUncertain significance
(Oct 5, 2015)
criteria provided, single submitter
69.
GRCh37:
Chr17:7572912
GRCh38:
Chr17:7669594
TP53not specifiedLikely benign
(Mar 7, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr17:7572914
GRCh38:
Chr17:7669596
TP53not specifiedLikely benign
(Oct 7, 2015)
criteria provided, single submitter
71.
GRCh37:
Chr17:7572917-7572918
GRCh38:
Chr17:7669599-7669600
TP53not specifiedUncertain significance
(Oct 26, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr17:7572917-7591611
GRCh38:
Chr17:7669599-7688293
LOC126862483, LOC130060171, LOC130060172, TP53, WRAP53Li-Fraumeni syndromePathogenic
(Sep 16, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr17:7572917-8285638
GRCh38:
Chr17:7669599-8382320
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, KRBA2, LINC00324, LOC100128288, LOC105371520, LOC106794092, LOC112533665, LOC116276454, LOC121587574, LOC121587575, LOC124904106, LOC126862483, LOC126862484, LOC126862485, LOC129390832, 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, MIR4314, MIR4521, MIR6883, NAA38, ODF4, PER1, PFAS, RANGRF, RNF227, RPL26, SCARNA21, SLC25A35, SNORD118, TMEM107, TMEM88, 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, VAMP2, WRAP53
Li-Fraumeni syndromePathogenic
(Jan 22, 2020)
criteria provided, single submitter
74.
GRCh37:
Chr17:7572917-7579922
GRCh38:
Chr17:7669599-7676604
TP53Li-Fraumeni syndromeUncertain significance
(Sep 25, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr17:7572917-7579922
GRCh38:
Chr17:7669599-7676604
TP53Li-Fraumeni syndromePathogenic
(Jan 14, 2019)
criteria provided, single submitter
76.
GRCh37:
Chr17:7572921-7579918
GRCh38:
Chr17:7669603-7676600
TP53Li-Fraumeni syndromeUncertain significance
(Apr 9, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr17:7572921-7579918
GRCh38:
Chr17:7669603-7676600
TP53Li-Fraumeni syndromePathogenic
(Aug 14, 2017)
criteria provided, single submitter
78.
GRCh37:
Chr17:7572921-8285634
GRCh38:
Chr17:7669603-8382316
CYB5D1, LOC130060192, LOC130060193, LOC130060194, LOC130060195, LOC130060228, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, LOC130060235, LOC130060236, LOC130060237, LOC130060238, LOC130060239, LOC130060240, LOC130060241, LOC130060242, LOC130060243, LOC130060244, LOC130060245, LOC130060246, MIR4314, MIR4521, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRI-AAT5-5, TRW-CCA1-1, TRW-CCA3-3, LOC130060196, LOC130060197, LOC130060198, LOC130060199, LOC130060200, LOC130060201, LOC130060202, LOC130060203, LOC130060204, LOC130060206, LOC130060207, LOC130060208, LOC130060209, LOC130060210, LOC130060211, LOC130060205, LOC130060229, LOC130060230, LOC130060231, MIR6883, NAA38, LOC130060232, LOC130060233, LOC130060234, LOC126862484, LOC126862485, LOC129390832, LOC130060171, LOC130060172, LOC130060173, LOC130060174, LOC130060175, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, LOC116276454, LOC121587574, LOC121587575, LOC124904106, BORCS6, CHD3, CNTROB, LOC126862483, CTC1, ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, KDM6B, KRBA2, LINC00324, LOC100128288, LOC105371520, LOC106794092, LOC112533665, LOC130060176, LOC130060177, LOC130060178, LOC130060179, LOC130060180, LOC130060181, LOC130060182, LOC130060183, LOC130060184, LOC130060185, LOC130060186, LOC130060187, LOC130060188, LOC130060189, LOC130060190, LOC130060191, LOC130060212, LOC130060213, LOC130060214, LOC130060215, LOC130060216, LOC130060217, LOC130060218, LOC130060219, LOC130060220, LOC130060221, LOC130060222, LOC130060223, LOC130060224, LOC130060225, LOC130060226, LOC130060227, ODF4, PER1, PFAS, RANGRF, RNF227, RPL26, SCARNA21, SLC25A35, SNORD118, TMEM107, TMEM88, TP53, TRAPPC1, VAMP2, WRAP53
Congenital hypoplastic anemia, Dyskeratosis congenita, Li-Fraumeni syndrome
Pathogenic
(Aug 20, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr17:7572921-7574039
GRCh38:
Chr17:7669603-7670721
TP53Li-Fraumeni syndromeLikely pathogenic
(Feb 15, 2017)
criteria provided, single submitter
80.
GRCh37:
Chr17:7572921
GRCh38:
Chr17:7669603
TP53Hereditary cancer-predisposing syndrome, not providedConflicting interpretations of pathogenicity
(Jan 25, 2023)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr17:7572927
GRCh38:
Chr17:7669609
TP53Hereditary cancer-predisposing syndrome, Li-Fraumeni syndromeUncertain significance
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr17:7572927-7572928
GRCh38:
Chr17:7669609-7669610
TP53Li-Fraumeni syndromeUncertain significance
(Jan 28, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr17:7572927
GRCh38:
Chr17:7669609
TP53Li-Fraumeni syndromeUncertain significance
(Jul 13, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr17:7572929
GRCh38:
Chr17:7669611
TP53Li-Fraumeni syndromeUncertain significance
(Oct 10, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr17:7572929
GRCh38:
Chr17:7669611
TP53Li-Fraumeni syndromeUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr17:7572929
GRCh38:
Chr17:7669611
TP53Hereditary cancer-predisposing syndromeUncertain significance
(Dec 15, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr17:7572929-7572930
GRCh38:
Chr17:7669611-7669612
TP53Li-Fraumeni syndrome, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Sep 7, 2022)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr17:7572930
GRCh38:
Chr17:7669612
TP53Li-Fraumeni syndromeLikely benign
(Jun 9, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr17:7572930
GRCh38:
Chr17:7669612
TP53D234E, D261E, D354E, D393EHereditary cancer-predisposing syndrome, Li-Fraumeni syndromeConflicting interpretations of pathogenicity
(Sep 8, 2022)
criteria provided, conflicting interpretations
90.
GRCh37:
Chr17:7572932-7572933
GRCh38:
Chr17:7669614-7669615
TP53D234fs, D261fs, D354fs, D393fsLi-Fraumeni syndrome 1Uncertain significance
(Jan 31, 2023)
criteria provided, single submitter
91.
GRCh37:
Chr17:7572932
GRCh38:
Chr17:7669614
TP53D234Y, D261Y, D393Y, D354YHereditary cancer-predisposing syndromeLikely benign
(Jul 12, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr17:7572932-7572933
GRCh38:
Chr17:7669614-7669615
TP53D234fs, D261fs, D354fs, D393fsHereditary cancer-predisposing syndromeUncertain significance
(Jul 31, 2020)
criteria provided, single submitter
93.
GRCh37:
Chr17:7572932-7572933
GRCh38:
Chr17:7669614-7669615
TP53Li-Fraumeni syndromeUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr17:7572932
GRCh38:
Chr17:7669614
TP53D234H, D261H, D354H, D393HLi-Fraumeni syndrome, Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Jun 18, 2022)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr17:7572932
GRCh38:
Chr17:7669614
TP53D261N, D354N, D393N, D234NHereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome
Conflicting interpretations of pathogenicity
(Jun 18, 2022)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr17:7572932
GRCh38:
Chr17:7669614
TP53D234fs, D354fs, D261fs, D393fsHereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome
Uncertain significance
(Sep 18, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr17:7572935
GRCh38:
Chr17:7669617
TP53S260P, S233P, S353P, S392PLi-Fraumeni syndromeUncertain significance
(Feb 9, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr17:7572936
GRCh38:
Chr17:7669618
TP53Li-Fraumeni syndromeLikely benign
(Sep 26, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr17:7572936
GRCh38:
Chr17:7669618
TP53D391E, D259E, D352E, D232ELi-Fraumeni syndrome, Hereditary cancer-predisposing syndromeUncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr17:7572938
GRCh38:
Chr17:7669620
TP53D259fs, D352fs, D391fs, D232fsLi-Fraumeni syndromeUncertain significance
(Feb 4, 2021)
criteria provided, single submitter
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