ClinVar Miner

Variants studied for chromosome 17 disorder

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
67 12 101 38 14 12 233

Gene and significance breakdown #

Total genes and gene combinations: 46
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FLCN 7 3 56 26 2 0 94
PMP22 17 6 37 11 12 8 81
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 6 0 0 0 0 0 6
RNF135 0 0 6 0 0 0 6
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 5 0 0 0 0 0 5
​intergenic 2 1 0 0 0 0 3
CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, COX10, FBXW10B, HS3ST3B1, LOC101928475, LOC105943586, LOC105943587, LOC112529896, LOC125177427, LOC126862511, LOC126862512, LOC126862513, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC132090456, MGC12916, MIR4731, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 2 0 0 0 0 0 2
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 2 0 0 0 0 0 2
AATF, ACACA, AP2B1, ASIC2, C17orf50, C17orf75, C17orf78, CCL1, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL2, CCL23, CCL3, CCL3L1, CCL3L3, CCL4, CCL4L1, CCL4L2, CCL5, CCL7, CCL8, CCT6B, CDK5R1, DHRS11, FNDC8, GAS2L2, GGNBP2, HEATR9, LHX1, LIG3, LYZL6, MMP28, MRM1, MYO19, MYO1D, NLE1, PEX12, PIGW, PSMD11, RAD51D, RASL10B, RDM1, RFFL, RHBDL3, SLC35G3, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SPACA3, TADA2A, TAF15, TBC1D3B, TBC1D3C, TBC1D3H, TMEM132E, TMEM132E-DT, TMEM98, UNC45B, ZNF207, ZNF830, ZNHIT3 1 0 0 0 0 0 1
AATF, ACACA, C17orf78, CCL18, CCL3, CCL3L1, CCL3L3, CCL4, CCL4L1, CCL4L2, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MRPL45, MYO19, PIGW, SYNRG, TADA2A, TBC1D3, TBC1D3B, TBC1D3C, TBC1D3F, TBC1D3H, ZNHIT3 1 0 0 0 0 0 1
AATF, ACACA, C17orf78, CCL3L1, CCL3L3, CCL4L1, CCL4L2, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3, TBC1D3B, TBC1D3C, TBC1D3F, TBC1D3H, ZNHIT3 1 0 0 0 0 0 1
AATF, ACACA, C17orf78, CCL3L1, CCL3L3, CCL4L1, CCL4L2, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3B, TBC1D3C, TBC1D3H, ZNHIT3 1 0 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LHX1-DT, LOC105371756, LOC110120862, LOC110120863, LOC125177462, LOC125177463, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC129390865, LOC129390866, LOC129390867, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, ZNHIT3 1 0 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3, TBC1D3F, ZNHIT3 1 0 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3F, ZNHIT3 0 1 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3H, ZNHIT3 1 0 0 0 0 0 1
ABR, ACADVL, ACAP1, ADPRM, AIPL1, ALOX12, ALOX12B, ALOX15, ALOX15B, ALOXE3, ANKFY1, ARHGEF15, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, AURKB, BCL6B, BHLHA9, BORCS6, C17orf100, C17orf107, C17orf114, C17orf49, C1QBP, CAMKK1, CAMTA2, CCDC42, CCDC92B, CD68, CFAP52, CHD3, CHRNB1, CHRNE, CLDN7, CLEC10A, CLUH, CNTROB, CRK, CTC1, CTDNEP1, CTNS, 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, KRBA2, LIAT1, LINC00324, LINC01975, LINC01996, LINC02091, LOC100128288, LOC100288728, LOC101927727, LOC101927839, LOC101927911, LOC101928266, LOC105371430, LOC105371485, LOC105371490, LOC105371520, LOC105371592, LOC106794092, LOC106799838, 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, 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, PITPNM3, PLD2, PLSCR3, POLR2A, PRPF8, PSMB6, RABEP1, RANGRF, RAP1GAP2, RCVRN, RFLNB, RILP, RNASEK, RNASEK-C17orf49, RNF167, RNF222, RNF227, RPA1, RPAIN, RPH3AL, 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, 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, YWHAE, ZBTB4, ZFP3, ZFP3-DT, ZMYND15, ZNF232, ZNF594, ZNF594-DT, ZZEF1 1 0 0 0 0 0 1
ABR, BHLHA9, CRK, DOC2B, GEMIN4, GLOD4, INPP5K, LIAT1, MRM3, MYO1C, NXN, PITPNA, RFLNB, RPH3AL, TIMM22, TLCD3A, TRARG1, VPS53, YWHAE 1 0 0 0 0 0 1
ABR, BHLHA9, CRK, DPH1, GEMIN4, GLOD4, HIC1, INPP5K, LIAT1, METTL16, MIR132, MIR212, MIR22, MNT, MRM3, MYO1C, NXN, OVCA2, PITPNA, PRPF8, RFLNB, RILP, RPA1, RPH3AL, RTN4RL1, SCARF1, SERPINF1, SERPINF2, SGSM2, SLC43A2, SMG6, SMYD4, SRR, TIMM22, TLCD2, TLCD3A, TRARG1, TSR1, VPS53, WDR81, YWHAE 1 0 0 0 0 0 1
ABR, BHLHA9, CRK, INPP5K, LOC112529892, LOC112529893, LOC121848004, LOC125177403, LOC125177404, LOC125177405, LOC129390818, LOC129390819, 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, MIR22, MIR22HG, MYO1C, PITPNA, PRPF8, RILP, RPA1, SCARF1, SERPINF1, SERPINF2, SLC43A2, SMYD4, TLCD2, TRARG1, WDR81, YWHAE 1 0 0 0 0 0 1
ABR, BHLHA9, CRK, INPP5K, LOC112529892, LOC121848004, LOC129390818, LOC129390819, LOC130059870, LOC130059871, LOC130059872, LOC130059873, LOC130059874, LOC130059875, LOC130059876, LOC130059877, LOC130059878, LOC130059879, LOC130059880, LOC130059881, LOC130059882, LOC130059883, LOC130059884, LOC130059885, LOC130059886, LOC130059887, LOC130059888, LOC130059889, LOC130059890, MYO1C, PITPNA, SCARF1, SLC43A2, TRARG1, YWHAE 1 0 0 0 0 0 1
ABR, BHLHA9, CRK, INPP5K, MYO1C, PITPNA, PRPF8, RILP, SCARF1, SLC43A2, TRARG1, YWHAE 0 0 0 0 0 1 1
ABR, BHLHA9, CRK, LOC112529892, LOC121848004, LOC130059873, LOC130059874, LOC130059875, LOC130059876, TRARG1, YWHAE 1 0 0 0 0 0 1
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LRRC37B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 1 0 0 0 0 0 1
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 1 0 0 0 0 0 1
ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CDRT4, CENPV, COPS3, DHRS7B, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FBXW10B, FLCN, FLII, GID4, GRAP, GRAPL, KCNJ12, LGALS9B, LGALS9C, LINC02693, LLGL1, LRRC75A, MAP2K3, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MTRNR2L1, MYO15A, NATD1, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D26, TBC1D28, TEKT3, TMEM11, TNFRSF13B, TOM1L2, TOP3A, TRIM16, TRIM16L, TRPV2, TTC19, TVP23B, TVP23C, TVP23C-CDRT4, UBB, ULK2, USP22, ZNF286A, ZNF287, ZNF624, ZSWIM7 1 0 0 0 0 0 1
ADORA2B, ARHGAP44, CDRT15, CDRT4, COX10, ELAC2, FBXW10B, HS3ST3A1, HS3ST3B1, MYOCD, NCOR1, PMP22, TBC1D26, TEKT3, TRIM16, TTC19, TVP23C, TVP23C-CDRT4, ZNF286A, ZSWIM7 0 0 0 0 0 1 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9B, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 1 0 0 0 0 0 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 1 0 0 0 0 0 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9B, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 1 0 0 0 0 0 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 1 0 0 0 0 0 1
ALKBH5, ATPAF2, DRC3, DRG2, EVPLL, FLII, GID4, LGALS9C, LLGL1, MIEF2, MIR33B, MYO15A, RAI1, SHMT1, SMCR8, SREBF1, TOM1L2, TOP3A 1 0 0 0 0 0 1
APPBP2, BCAS3, BRIP1, CA4, CHCT1, HEATR6, INTS2, LINC02875, MED13, NACA2, PPM1D, TBX2, TBX4, USP32 0 1 0 0 0 0 1
ATPAF2, CCDC144A, COPS3, DRC3, FLCN, LRRC75A, MED9, MIR33B, MPRIP, NT5M, PEMT, PLD6, RAI1, RASD1, SREBF1, TNFRSF13B, TOM1L2, ZNF287, ZNF624 1 0 0 0 0 0 1
CACNA1S 0 0 0 1 0 0 1
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4, ZNF286A 1 0 0 0 0 0 1
CDRT15, CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
LMNA 0 0 1 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 1
MIR4731, PMP22 1 0 0 0 0 0 1
MT-ATP6 1 0 0 0 0 0 1
MYO1C 0 0 1 0 0 0 1
RAI1 0 0 0 0 0 1 1
SLC2A1 1 0 0 0 0 0 1
TEKT3 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 43
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 7 3 60 27 3 0 100
Illumina Laboratory Services, Illumina 0 0 21 10 11 0 42
OMIM 12 0 4 0 0 0 16
Baylor Genetics 14 1 1 0 0 0 16
GeneReviews 4 0 0 0 0 5 9
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 7 1 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 4 1 1 0 0 0 6
Inherited Neuropathy Consortium 0 0 6 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 3 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 3
Athena Diagnostics 1 1 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 1 0 0 2
Mendelics 0 1 0 0 1 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 1
3billion, Medical Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pangenia Genomics, Pangenia Inc. 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1

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