ClinVar Miner

Variants studied for partial duplication of the short arm of chromosome 17

Included ClinVar conditions (7):
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
37 8 81 27 3 7 159

Gene and significance breakdown #

Total genes and gene combinations: 18
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FLCN 9 4 70 26 2 0 111
PMP22 13 4 11 1 1 5 31
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 2 0 0 0 0 0 2
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 2 0 0 0 0 0 2
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, 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
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
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
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4, ZNF286A 1 0 0 0 0 0 1
MT-ATP6 1 0 0 0 0 0 1
TEKT3 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 8 4 74 27 3 0 116
OMIM 6 0 0 0 0 0 6
GeneReviews 2 0 0 0 0 3 5
Baylor Genetics 3 0 0 0 0 0 3
Athena Diagnostics 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 3
Laboratory of Human Genetics, Universidade de São Paulo 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 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
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 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 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 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
Pangenia Genomics, Pangenia Inc. 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.