ClinVar Miner

Variants from ISCA site 3

Location: United States  Primary collection method: clinical testing
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 total
15 1 8 2 3 29

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
​intergenic 3 0 0 1 0 4
ABCA7, ABHD17A, ACER1, ACSBG2, ADAMTSL5, ADAT3, ALKBH7, AMH, ANKRD24, AP3D1, APBA3, APC2, ARHGAP45, ARID3A, ARRDC5, ATCAY, ATP5F1D, ATP8B3, AZU1, BSG, BTBD2, C19orf25, C2CD4C, C3, CACTIN, CAPS, CATSPERD, CBARP, CBARP-DT, CD70, CDC34, CELF5, CFD, CHAF1A, CIMAP1D, CIRBP, CLPP, CNN2, CRB3, CREB3L3, CSNK1G2, DAPK3, DAZAP1, DENND1C, DIRAS1, DOHH, DOT1L, DPP9, DUS3L, EBI3, EEF2, EFNA2, ELANE, FAM174C, FEM1A, FGF22, FSD1, FSTL3, FUT3, FUT5, FUT6, FZR1, GADD45B, GAMT, GIPC3, GNA11, GNA15, GNA15-DT, GNG7, GPR108, GPX4, GRIN3B, GTF2F1, GZMM, HCN2, HDGFL2, HMG20B, HSD11B1L, IZUMO4, JSRP1, KDM4B, KHSRP, KISS1R, KLF16, LINC01775, LINGO3, LMNB2, LOC100288123, LOC101928450, LOC101928844, LOC105372244, LOC105372253, LOC105372255, LOC106804547, LOC108254692, LOC108281123, LOC108348031, LOC108783649, LOC110006317, LOC110006318, LOC111413035, LOC111556134, LOC111721712, LOC111828491, LOC111828495, LOC112543439, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC112552148, LOC112552174, LOC112552175, LOC112552176, LOC113939966, LOC113939970, LOC113939971, LOC113939974, LOC116276493, LOC116276494, LOC116276495, LOC116276496, LOC116276497, LOC116276498, LOC116276499, LOC116276500, LOC121627842, LOC121627843, LOC121627844, LOC121627845, LOC121627846, LOC121627847, LOC121627848, LOC121627849, LOC121627850, LOC121627851, LOC121627852, LOC121627853, LOC121852971, LOC121852972, LOC121852973, LOC121852974, LOC121852975, LOC121852976, LOC125371444, LOC125371446, LOC125371447, LOC125371448, LOC125371449, LOC125371450, LOC125371451, LOC125371452, LOC125371453, LOC125371455, LOC125371457, LOC125371459, LOC125371460, LOC125371461, LOC125371462, LOC125371463, LOC125371464, LOC125371465, LOC126862835, LOC126862836, LOC126862837, LOC126862838, LOC126862839, LOC126862840, LOC126862841, LOC126862842, LOC126862843, LOC126862844, LOC126862845, LOC126862846, LOC126862847, LOC128772422, LOC128772423, LOC128772424, LOC128900001, LOC129391009, LOC129391010, LOC129391011, LOC129391012, LOC129391013, LOC129391014, LOC129391015, LOC129391016, LOC129391017, LOC129391018, LOC129391019, LOC129391020, LOC129391021, LOC129391022, LOC129391023, LOC129391024, LOC129391025, LOC129391026, LOC129391027, LOC129391028, LOC129391029, LOC129391030, LOC129391031, LOC129391032, LOC129391033, LOC129391034, LOC129391035, LOC129391036, LOC129391037, LOC129391038, LOC129391039, LOC129391040, LOC129391041, LOC129391042, LOC129929036, LOC130062811, LOC130062812, LOC130062813, LOC130062814, LOC130062815, LOC130062816, LOC130062817, LOC130062818, LOC130062819, LOC130062820, LOC130062821, LOC130062822, LOC130062823, LOC130062824, LOC130062825, LOC130062826, LOC130062827, LOC130062828, LOC130062829, LOC130062830, LOC130062831, LOC130062832, LOC130062833, LOC130062834, LOC130062835, LOC130062836, LOC130062837, LOC130062838, LOC130062839, LOC130062840, LOC130062841, LOC130062842, LOC130062843, LOC130062844, LOC130062845, LOC130062846, LOC130062847, LOC130062848, LOC130062849, LOC130062850, LOC130062851, LOC130062852, LOC130062853, LOC130062854, LOC130062855, LOC130062856, LOC130062857, LOC130062858, LOC130062859, LOC130062860, LOC130062861, LOC130062862, LOC130062863, LOC130062864, LOC130062865, LOC130062866, LOC130062867, LOC130062868, LOC130062869, LOC130062870, LOC130062871, LOC130062872, LOC130062873, LOC130062874, LOC130062875, LOC130062876, LOC130062877, LOC130062878, LOC130062879, LOC130062880, LOC130062881, LOC130062882, LOC130062883, LOC130062884, LOC130062885, LOC130062886, LOC130062887, LOC130062888, LOC130062889, LOC130062890, LOC130062891, LOC130062892, LOC130062893, LOC130062894, LOC130062895, LOC130062896, LOC130062897, LOC130062898, LOC130062899, LOC130062900, LOC130062901, LOC130062902, LOC130062903, LOC130062904, LOC130062905, LOC130062906, LOC130062907, LOC130062908, LOC130062909, LOC130062910, LOC130062911, LOC130062912, LOC130062913, LOC130062914, LOC130062915, LOC130062916, LOC130062917, LOC130062918, LOC130062919, LOC130062920, LOC130062921, LOC130062922, LOC130062923, LOC130062924, LOC130062925, LOC130062926, LOC130062927, LOC130062928, LOC130062929, LOC130062930, LOC130062931, LOC130062932, LOC130062933, LOC130062934, LOC130062935, LOC130062936, LOC130062937, LOC130062938, LOC130062939, LOC130062940, LOC130062941, LOC130062942, LOC130062943, LOC130062944, LOC130062945, LOC130062946, LOC130062947, LOC130062948, LOC130062949, LOC130062950, LOC130062951, LOC130062952, LOC130062953, LOC130062954, LOC130062955, LOC130062956, LOC130062957, LOC130062958, LOC130062959, LOC130062960, LOC130062961, LOC130062962, LOC130062963, LOC130062964, LOC130062965, LOC130062966, LOC130062967, LOC130062968, LOC130062969, LOC130062970, LOC130062971, LOC130062972, LOC130062973, LOC130062974, LOC130062975, LOC130062976, LOC130062977, LOC130062978, LOC130062979, LOC130062980, LOC130062981, LOC130062982, LOC130062983, LOC130062984, LOC130062985, LOC130062986, LOC130062987, LOC130062988, LOC130062989, LOC130062990, LOC130062991, LOC130062992, LOC130062993, LOC130062994, LOC130062995, LOC130062996, LOC130062997, LOC130062998, LOC130062999, LOC130063000, LOC130063001, LOC130063002, LOC130063003, LOC130063004, LOC130063005, LOC130063006, LOC130063007, LOC130063008, LOC130063009, LOC130063010, LOC130063011, LOC130063012, LOC130063013, LOC130063014, LOC130063015, LOC130063016, LOC130063017, LOC130063018, LOC130063019, LOC130063020, LOC130063021, LOC130063022, LOC130063023, LOC130063024, LOC130063025, LOC130063026, LOC130063027, LOC130063028, LOC130063029, LOC130063030, LOC130063031, LOC130063032, LOC130063033, LOC130063034, LOC130063035, LOC130063036, LOC130063037, LOC130063038, LOC130063039, LOC130063040, LOC130063041, LOC130063042, LOC130063043, LOC130063044, LOC130063045, LOC130063046, LOC130063047, LOC130063048, LOC130063049, LOC130063050, LOC130063051, LOC130063052, LOC130063053, LOC130063054, LOC130063055, LOC130063056, LOC130063057, LOC130063058, LOC130063059, LOC130063060, LOC130063061, LOC130063062, LOC130063063, LOC130063064, LOC130063065, LOC130063066, LOC130063067, LOC130063068, LOC130063069, LOC130063070, LOC130063071, LOC130063072, LOC130063073, LOC130063074, LOC130063075, LOC130063076, LOC130063077, LOC130063078, LOC130063079, LOC130063080, LOC130063081, LOC130063082, LOC130063083, LOC130063084, LOC130063085, LOC130063086, LOC130063087, LOC130063088, LOC130063089, LOC130063090, LOC130063091, LOC130063092, LOC130063093, LOC130063094, LOC130063095, LOC130063096, LOC130063097, LOC130063098, LOC130063099, LOC130063100, LOC130063101, LOC130063102, LOC130063103, LOC130063104, LOC130063105, LOC130063106, LOC130063107, LOC130063108, LOC130063109, LOC130063110, LOC130063111, LOC130063112, LOC130063113, LOC130063114, LOC130063115, LOC130063116, LOC130063117, LOC130063118, LOC130063119, LOC130063120, LOC130063121, LOC130063122, LOC130063123, LOC130063124, LOC130063125, LOC130063126, LOC130063127, LOC130063128, LOC130063129, LOC130063130, LOC130063131, LOC130063132, LOC130063133, LOC130063134, LOC130063135, LOC130063136, LOC130063137, LOC130063138, LOC130063139, LOC130063140, LOC130063141, LOC130063142, LOC130063143, LOC130063144, LOC130063145, LOC130063146, LOC130063147, LOC130063148, LOC130063149, LOC130063150, LOC130063151, LOC130063152, LOC130063153, LOC130063154, LOC130063155, LOC130063156, LOC130063157, LOC130063158, LOC130063159, LOC130063160, LOC130063161, LOC130063162, LOC130063163, LOC130063164, LOC130063165, LOC130063166, LOC130063167, LOC130063168, LOC130063169, LOC130063170, LOC130063171, LOC130063172, LOC130063173, LOC130063174, LOC130063175, LOC130063176, LOC130063177, LOC130063178, LOC130063179, LOC130063180, LOC130063181, LOC130063182, LOC130063183, LOC130063184, LOC130063185, LOC130063186, LOC130063187, LOC130063188, LOC130063189, LOC130063190, LOC130063191, LOC130063192, LOC130063193, LOC130063194, LOC130063195, LOC130063196, LOC130063197, LOC130063198, LOC130063199, LOC130063200, LOC130063201, LOC130063202, LOC130063203, LOC130063204, LOC130063205, LOC130063206, LOC130063207, LOC130063208, LOC130063209, LOC130063210, LOC130063211, LOC130063212, LOC130063213, LOC130063214, LOC130063215, LOC130063216, LOC130063217, LOC130063218, LOC130063219, LOC130063220, LOC130063221, LOC130063222, LOC130063223, LOC130063224, LOC130063225, LOC130063226, LOC130063227, LOC130063228, LOC130063229, LOC130063230, LOC130063231, LOC130063232, LOC130063233, LOC130063234, LOC130063235, LOC130063236, LOC130063237, LOC130063238, LOC130063239, LOC130063240, LOC130063241, LOC130063242, LOC130063243, LOC130063244, LOC130063245, LOC130063246, LOC130063247, LOC130063248, LOC130063249, LOC130063250, LOC130063251, LOC130063252, LOC130063253, LOC130063254, LOC130063255, LOC130063256, LOC130063257, LOC130063258, LOC130063259, LOC130063260, LOC130063261, LOC130063262, LOC130063263, LOC130063264, LOC130063265, LOC130063266, LOC130063267, LOC130063268, LOC130063269, LOC130063270, LOC130063271, LOC130063272, LOC130063273, LOC130063274, LOC130063275, LOC130063276, LOC130063277, LOC130063278, LOC130063279, LOC130063280, LOC130063281, LOC130063282, LOC130063283, LOC130063284, LOC130063285, LOC130063286, LOC130063287, LOC130063288, LOC130063289, LOC130063290, LOC130063291, LOC130063292, LOC130063293, LOC130063294, LOC130063295, LOC130063296, LOC130063297, LOC130063298, LOC130063299, LOC130063300, LOC130063301, LOC130063302, LOC130063303, LOC130063304, LOC130063305, LOC130063306, LOC130063307, LOC130063308, LOC130063309, LOC130063310, LOC130063311, LOC130063312, LOC130063313, LOC130063314, LOC130063315, LOC130063316, LOC130063317, LOC130063318, LOC130063319, LOC130063320, LOC130063321, LOC130063322, LOC130063323, LOC130063324, LOC130063325, LOC130063326, LOC130063327, LOC130063328, LOC130063329, LOC130063330, LOC130063331, LOC130063332, LOC130063333, LOC130063334, LOC130063335, LOC130063336, LOC130063337, LOC130063338, LOC130063339, LOC130063340, LOC130063341, LOC132090552, LOC132090553, LOC132090555, LOC132090556, LOC132090902, LOC132090903, LOC390877, LONP1, LRG1, LSM7, MADCAM1, MAP2K2, MATK, MBD3, MED16, MEX3D, MFSD12, MICOS13, MIDN, MIER2, MIR1227, MIR1909, MIR3187, MIR3940, MIR4321, MIR4745, MIR4746, MIR4747, MIR637, MIR6789, MIR6790, MIR6791, MIR6885, MIR7-3, MIR7-3HG, MIR7108, MIR7850, MISP, MKNK2, MLLT1, MOB3A, MPND, MRPL54, MYDGF, NCLN, NDUFA11, NDUFS7, NFIC, NMRK2, NRTN, OAZ1, ONECUT3, PALM, PCSK4, PEAK3, PIAS4, PIP5K1C, PLEKHJ1, PLIN3, PLIN4, PLIN5, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRR22, PRSS57, PRTN3, PSPN, PTBP1, PTPRS, PWWP3A, R3HDM4, RANBP3, RANBP3-DT, RAX2, REEP6, REXO1, RFX2, RNF126, RNU6-2, RNU6-9, RPL36, RPS15, S1PR4, SAFB, SAFB2, SBNO2, SCAMP4, SEMA6B, SF3A2, SGTA, SH2D3A, SH3GL1, SHC2, SHD, SIRT6, SLC25A23, SLC25A41, SLC39A3, SMIM24, SMIM44, SNORD37, SPMAP2, SPPL2B, STAP2, STK11, TBXA2R, TCF3, TEKTIP1, THOP1, TICAM1, TIMM13, TINCR, TJP3, TLE2, TLE5, TLE6, TMEM259, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNFSF9, TPGS1, TRF-GAA1-6, TRG-TCC1-1, TRIP10, TRN-GTT2-6, TRV-CAC3-1, TUBB4A, UBXN6, UHRF1, UQCR11, VAV1, VMAC, WDR18, YJU2, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF57, ZNF77, ZNRF4 1 0 0 0 0 1
ACAD8, B3GAT1, B3GAT1-DT, GLB1L2, GLB1L3, IGSF9B, JAM3, LINC02551, LINC02684, LINC02697, LINC02706, LINC02714, LINC02730, LINC02731, LINC02743, LINC02873, LOC100507548, LOC101929653, LOC108165613, LOC110120853, LOC112067710, LOC112067711, LOC121392952, LOC121392953, LOC121392954, LOC121832824, LOC124625872, LOC124625873, LOC124625874, LOC124625875, LOC126861392, LOC126861393, LOC126861394, LOC126861395, LOC126861396, LOC126861397, LOC126861398, LOC126861399, LOC126861400, LOC126861401, LOC126861402, LOC126861403, LOC126861404, LOC126861405, LOC126861406, LOC126861407, LOC126861408, LOC126861409, LOC129390380, LOC129390381, LOC129390382, LOC129390383, LOC129390384, LOC130007095, LOC130007096, LOC130007097, LOC130007098, LOC130007099, LOC130007100, LOC130007101, LOC130007102, LOC130007103, LOC130007104, LOC130007105, LOC130007106, LOC130007107, LOC130007108, LOC130007109, LOC130007110, LOC130007111, LOC130007112, LOC130007113, LOC130007114, LOC130007115, LOC130007116, LOC130007117, LOC130007118, LOC130007119, LOC130007120, LOC130007121, LOC130007122, LOC130007123, LOC130007124, LOC130007125, LOC130007126, LOC130007127, LOC130007128, LOC130007129, LOC132089908, MIR4697, NCAPD3, NTM, NTM-IT, OPCML, OPCML-IT1, SNORD153, SNX19, SPATA19, THYN1, VPS26B 1 0 0 0 0 1
ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FAM72D, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01145, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LOC100996740, LOC101927468, LOC105371215, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC120893158, LOC121725051, LOC121725052, LOC121725053, LOC122094913, LOC122128410, LOC122128415, LOC122128418, LOC122128419, LOC122128420, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, LOC129388601, LOC129388602, LOC129388603, LOC129388604, LOC129931322, LOC129931323, LOC129931324, LOC129931325, LOC129931326, LOC129931327, LOC129931328, LOC129931329, LOC129931330, LOC129931331, LOC129931332, LOC129931333, LOC129931334, LOC129931335, LOC129931336, LOC129931337, LOC129931338, LOC129931339, LOC129931340, LOC129931341, LOC129931342, LOC129931343, LOC129931344, LOC129931345, LOC129931346, LOC129931347, LOC129931348, LOC129931349, LOC129931350, LOC129931351, LOC129931352, LOC129931353, LOC129931354, LOC129931355, LOC129931356, LOC129931357, LOC129931358, LOC129931359, LOC129931360, LOC129931361, LOC129931362, LOC129931363, LOC129931364, LOC129931365, LOC129931366, LOC129931367, LOC129931368, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NBPF20, NBPF9, NOTCH2NLA, NOTCH2NLB, NUDT17, NUDT4B, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4D, PPIAL4F, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-14, RNVU1-27, RNVU1-3, RNVU1-31, RNVU1-6, RNVU1-7, RNVU1-8, SRGAP2B, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT10-1, TRN-GTT2-1, TRN-GTT2-7, TRN-GTT24-1, TRN-GTT9-1, TRN-GTT9-2, TRQ-CTG3-1, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP 0 1 0 0 0 1
ACSL1, ADAM29, AGA, AGA-DT, ANKRD37, ASB5, CASP3, CCDC110, CDKN2AIP, CENPU, CEP44, CFAP96, CFAP97, CLDN22, CLDN24, CYP4V2, DCTD, ENPP6, F11, FAM149A, FAT1, FBXO8, FLJ38576, GLRA3, GPM6A, GPM6A-DT, HAFML, HELT, HPGD, ING2, ING2-DT, IRF2, IRF2-DT, KLKB1, LINC00290, LINC01060, LINC01093, LINC01098, LINC01099, LINC02268, LINC02269, LINC02362, LINC02363, LINC02365, LINC02374, LINC02427, LINC02434, LINC02436, LINC02492, LINC02500, LINC02508, LINC02509, LINC02514, LINC02515, LOC101928551, LOC101930028, LOC105377543, LOC105377590, LOC105377603, LOC107992388, LOC108281192, LOC110120796, LOC112939926, LOC112939927, LOC114004384, LOC114827834, LOC116158510, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC121725194, LOC121725195, LOC121725196, LOC123493241, LOC123493242, LOC123493243, LOC123493244, LOC123493245, LOC123493246, LOC123493247, LOC123493248, LOC123493249, LOC123493250, LOC123493251, LOC123493252, LOC123493253, LOC123493254, LOC126807223, LOC126807224, LOC126807225, LOC126807226, LOC126807227, LOC126807228, LOC126807229, LOC126807230, LOC126807231, LOC126807232, LOC126807233, LOC126807234, LOC126807235, LOC126807236, LOC126807237, LOC126807238, LOC126807239, LOC126807240, LOC126807241, LOC126807242, LOC126807243, LOC126807244, LOC126807245, LOC126807246, LOC126807247, LOC126807248, LOC126807249, LOC126807250, LOC126807251, LOC126807252, LOC126807253, LOC126807254, LOC126807255, LOC126807256, LOC126807257, LOC126807258, LOC126807259, LOC126807260, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC126807272, LOC126807273, LOC126807274, LOC129389249, LOC129389250, LOC129389251, LOC129389252, LOC129389253, LOC129993399, LOC129993400, LOC129993401, LOC129993402, LOC129993403, LOC129993404, LOC129993405, LOC129993406, LOC129993407, LOC129993408, LOC129993409, LOC129993410, LOC129993411, LOC129993412, LOC129993413, LOC129993414, LOC129993415, LOC129993416, LOC129993417, LOC129993418, LOC129993419, LOC129993420, LOC129993421, LOC129993422, LOC129993423, LOC129993424, LOC129993425, LOC129993426, LOC129993427, LOC129993428, LOC129993429, LOC129993430, LOC129993431, LOC129993432, LOC129993433, LOC129993434, LOC129993435, LOC129993436, LOC129993437, LOC129993438, LOC129993439, LOC129993440, LOC129993441, LOC129993442, LOC129993443, LOC129993444, LOC129993445, LOC129993446, LOC129993447, LOC129993448, LOC129993449, LOC129993450, LOC129993451, LOC129993452, LOC129993453, LOC129993454, LOC129993455, LOC129993456, LOC129993457, LOC129993458, LOC129993459, LOC129993460, LOC129993461, LOC129993462, LOC129993463, LOC129993464, LOC129993465, LOC129993466, LOC129993467, LOC129993468, LOC129993469, LOC129993470, LOC129993471, LOC129993472, LOC129993473, LOC129993474, LOC129993475, LOC129993476, LOC129993477, LOC129993478, LOC129993479, LOC129993480, LOC129993481, LOC129993482, LOC129993483, LOC129993484, LOC129993485, LOC129993486, LOC129993487, LOC129993488, LOC129993489, LOC129993490, LOC129993491, LOC129993492, LOC129993493, LOC129993494, LOC129993495, LOC129993496, LOC129993497, LOC129993498, LOC129993499, LOC129993500, LOC129993501, LOC129993502, LOC129993503, LOC129993504, LOC129993505, LOC129993506, LOC129993507, LOC129993508, LOC129993509, LOC129993510, LOC129993511, LOC129993512, LOC129993513, LOC129993514, LOC129993515, LOC129993516, LOC129993517, LOC129993518, LOC129993519, LOC129993520, LOC129993521, LOC129993522, LOC129993523, LOC129993524, LOC129993525, LOC129993526, LOC129993527, LOC132089092, LOC132089093, LOC132089094, LOC132089095, LOC132089096, LOC132089097, LOC132089098, LOC132089099, LOC132089100, LOC132089101, LOC132089102, LOC132089103, LOC132089104, LOC132089105, LOC132089106, LOC132089107, LOC132089108, LOC132089109, LOC132089110, LOC132090717, LOC132090718, LOC339975, LRP2BP, MIR1305, MIR3945, MIR3945HG, MIR4276, MIR4455, MTNR1A, NEIL3, PDLIM3, PRIMPOL, RWDD4, SLC25A4, SNX25, SORBS2, SPATA4, SPCS3, STOX2, TENM3, TLR3, TRAPPC11, TRIML1, TRIML2, UFSP2, VEGFC, WDR17, WWC2, ZFP42 1 0 0 0 0 1
ADCYAP1, AFG3L2, AKAIN1, ANKRD12, ANKRD62, APCDD1, ARHGAP28, C18orf15, C18orf61, CEP192, CEP76, CETN1, CHMP1B, CIDEA, CLUL1, COLEC12, DLGAP1, EMILIN2, ENOSF1, EPB41L3, FAM210A, GACAT2, GAPLINC, GNAL, IMPA2, L3MBTL4, LAMA1, LDLRAD4, LINC00470, LINC00526, LINC00667, LINC00668, LINC01254, LINC01255, LINC01387, LINC01882, LINC01887, LINC01892, LINC01895, LINC01904, LINC01925, LINC01928, LOC100192426, LOC101927188, LOC101927410, LOC105371967, LOC105371995, LOC105371998, LOC108318665, LOC110121440, LOC112538442, LOC112538443, LOC112538445, LOC112540018, LOC112543419, LOC112543420, LOC112543423, LOC112543431, LOC112543434, LOC112543435, LOC112543436, LOC112543437, LOC112577592, LOC116276486, LOC116276487, LOC116276488, LOC116276489, LOC121627821, LOC121627822, LOC121627823, LOC121725015, LOC121852958, LOC125338459, LOC125338460, LOC125338461, LOC125338462, LOC125338463, LOC125338464, LOC125338465, LOC125338466, LOC125338467, LOC125338468, LOC125338469, LOC125338470, LOC125338471, LOC125368541, LOC125368542, LOC125368543, LOC125368544, LOC125368546, LOC125368547, LOC125368548, LOC125368550, LOC125368551, LOC125368552, LOC125368553, LOC126862675, LOC126862676, LOC126862677, LOC126862678, LOC126862679, LOC126862680, LOC126862681, LOC126862682, LOC126862683, LOC126862684, LOC126862685, LOC126862686, LOC126862687, LOC126862688, LOC126862689, LOC126862690, LOC126862691, LOC126862692, LOC126862693, LOC126862694, LOC126862695, LOC126862696, LOC126862697, LOC126862698, LOC126862699, LOC126862700, LOC126862701, LOC129390951, LOC129390952, LOC129390953, LOC129390954, LOC129390955, LOC129390956, LOC129390957, LOC129390958, LOC130062070, LOC130062071, LOC130062072, LOC130062073, LOC130062074, LOC130062075, LOC130062076, LOC130062077, LOC130062078, LOC130062079, LOC130062080, LOC130062081, LOC130062082, LOC130062083, LOC130062084, LOC130062085, LOC130062086, LOC130062087, LOC130062088, LOC130062089, LOC130062090, LOC130062091, LOC130062092, LOC130062093, LOC130062094, LOC130062095, LOC130062096, LOC130062097, LOC130062098, LOC130062099, LOC130062100, LOC130062101, LOC130062102, LOC130062103, LOC130062104, LOC130062105, LOC130062106, LOC130062107, LOC130062108, LOC130062109, LOC130062110, LOC130062111, LOC130062112, LOC130062113, LOC130062114, LOC130062115, LOC130062116, LOC130062117, LOC130062118, LOC130062119, LOC130062120, LOC130062121, LOC130062122, LOC130062123, LOC130062124, LOC130062125, LOC130062126, LOC130062127, LOC130062128, LOC130062129, LOC130062130, LOC130062131, LOC130062132, LOC130062133, LOC130062134, LOC130062135, LOC130062136, LOC130062137, LOC130062138, LOC130062139, LOC130062140, LOC130062141, LOC130062142, LOC130062143, LOC130062144, LOC130062145, LOC130062146, LOC130062147, LOC130062148, LOC130062149, LOC130062150, LOC130062151, LOC130062152, LOC130062153, LOC130062154, LOC130062155, LOC130062156, LOC130062157, LOC130062158, LOC130062159, LOC130062160, LOC130062161, LOC130062162, LOC130062163, LOC130062164, LOC130062165, LOC130062166, LOC130062167, LOC130062168, LOC130062169, LOC130062170, LOC130062171, LOC130062172, LOC130062173, LOC130062174, LOC130062175, LOC130062176, LOC130062177, LOC130062178, LOC130062179, LOC130062180, LOC130062181, LOC130062182, LOC130062183, LOC130062184, LOC130062185, LOC130062186, LOC130062187, LOC130062188, LOC130062189, LOC130062190, LOC130062191, LOC130062192, LOC130062193, LOC130062194, LOC130062195, LOC130062196, LOC130062197, LOC130062198, LOC130062199, LOC130062200, LOC130062201, LOC130062202, LOC130062203, LOC130062204, LOC130062205, LOC130062206, LOC130062207, LOC130062208, LOC130062209, LOC130062210, LOC130062211, LOC130062212, LOC130062213, LOC130062214, LOC130062215, LOC130062216, LOC130062217, LOC130062218, LOC130062219, LOC130062220, LOC130062221, LOC130062222, LOC130062223, LOC130062224, LOC130062225, LOC130062226, LOC130062227, LOC130062228, LOC130062229, LOC130062230, LOC130062231, LOC130062232, LOC130062233, LOC130062234, LOC130062235, LOC130062236, LOC130062237, LOC130062238, LOC130062239, LOC130062240, LOC130062241, LOC132090486, LOC132090487, LOC132090489, LOC132090531, LOC132090897, LOC132090898, LPIN2, LRRC30, MC2R, MC5R, METTL4, MIR3976, MIR3976HG, MIR4317, MIR4526, MIR5190, MIR6718, MIR6788, MIR7153, MPPE1, MTCL1, MYL12, MYL12A, MYL12B, MYOM1, NAPG, NDC80, NDUFV2, PIEZO2, PPP4R1, PRELID3A, PSMG2, PTPN2, PTPRM, RAB12, RAB31, RALBP1, RNMT, SEH1L, SLC35G4, SMCHD1, SPIRE1, TGIF1, THOC1, TMEM200C, TUBB6, TWSG1, TWSG1-DT, TXNDC2, TYMS, TYMSOS, USP14, VAPA, YES1, ZBTB14, ZNF519 1 0 0 0 0 1
ADNP2, ATP9B, C18orf63, CBLN2, CCDC102B, CD226, CNDP1, CNDP2, CTDP1, CTDP1-DT, CYB5A, DIPK1C, DOK6, FBXO15, GALR1, GTSCR1, HSBP1L1, KCNG2, LINC00683, LINC00908, LINC01029, LINC01541, LINC01879, LINC01893, LINC01896, LINC01898, LINC01899, LINC01909, LINC01910, LINC01922, LINC01927, LINC02582, LINC02864, LIVAR, LOC105372179, LOC105372187, LOC105372228, LOC107992389, LOC110120868, LOC110120915, LOC110120931, LOC110120935, LOC110121312, LOC110121314, LOC110121318, LOC110121330, LOC112543433, LOC116276492, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121852970, LOC124904333, LOC125371438, LOC125371439, LOC125371440, LOC125371441, LOC125371442, LOC125371443, LOC126862783, LOC126862784, LOC126862785, LOC126862786, LOC126862787, LOC126862788, LOC126862789, LOC126862790, LOC126862791, LOC126862792, LOC126862793, LOC126862794, LOC126862795, LOC126862796, LOC126862797, LOC126862798, LOC126862799, LOC126862800, LOC126862801, LOC126862802, LOC126862803, LOC126862804, LOC126862805, LOC126862806, LOC126862807, LOC126862808, LOC126862809, LOC126862810, LOC126862811, LOC126862812, LOC126862813, LOC126862814, LOC126862815, LOC126862816, LOC126862817, LOC126862818, LOC126862819, LOC126862820, LOC126862821, LOC126862822, LOC126862823, LOC126862824, LOC126862825, LOC126862826, LOC126862827, LOC126862828, LOC126862829, LOC126862830, LOC126862831, LOC126862832, LOC126862833, LOC126862834, LOC129391005, LOC129391006, LOC129391007, LOC129391008, LOC129456126, LOC130062690, LOC130062691, LOC130062692, LOC130062693, LOC130062694, LOC130062695, LOC130062696, LOC130062697, LOC130062698, LOC130062699, LOC130062700, LOC130062701, LOC130062702, LOC130062703, LOC130062704, LOC130062705, LOC130062706, LOC130062707, LOC130062708, LOC130062709, LOC130062710, LOC130062711, LOC130062712, LOC130062713, LOC130062714, LOC130062715, LOC130062716, LOC130062717, LOC130062718, LOC130062719, LOC130062720, LOC130062721, LOC130062722, LOC130062723, LOC130062724, LOC130062725, LOC130062726, LOC130062727, LOC130062728, LOC130062729, LOC130062730, LOC130062731, LOC130062732, LOC130062733, LOC130062734, LOC130062735, LOC130062736, LOC130062737, LOC130062738, LOC130062739, LOC130062740, LOC130062741, LOC130062742, LOC130062743, LOC130062744, LOC130062745, LOC130062746, LOC130062747, LOC130062748, LOC130062749, LOC130062750, LOC130062751, LOC130062752, LOC130062753, LOC130062754, LOC130062755, LOC130062756, LOC130062757, LOC130062758, LOC130062759, LOC130062760, LOC130062761, LOC130062762, LOC130062763, LOC130062764, LOC130062765, LOC130062766, LOC130062767, LOC130062768, LOC130062769, LOC130062770, LOC130062771, LOC130062772, LOC130062773, LOC130062774, LOC130062775, LOC130062776, LOC130062777, LOC130062778, LOC130062779, LOC130062780, LOC130062781, LOC130062782, LOC130062783, LOC130062784, LOC130062785, LOC130062786, LOC130062787, LOC130062788, LOC130062789, LOC130062790, LOC130062791, LOC130062792, LOC130062793, LOC130062794, LOC130062795, LOC130062796, LOC130062797, LOC130062798, LOC130062799, LOC130062800, LOC130062801, LOC130062802, LOC130062803, LOC130062804, LOC130062805, LOC132090506, LOC132090507, LOC132090508, LOC132090509, LOC132090510, LOC132090511, LOC132090512, LOC132090513, LOC132090514, LOC132090515, LOC132090516, LOC132090517, LOC132090518, LOC132090519, LOC132090520, LOC132090521, LOC132090522, LOC132090523, LOC132090524, LOC132090525, LOC132090526, LOC132090527, LOC132090528, LOC132090529, LOC132090530, LOC132090900, LOC132090901, LOC132211114, LOC284240, LOC339298, MBP, MIR548AV, NETO1, NETO1-DT, NFATC1, PARD6G, PTGR3, RBFA, RBFADN, RTTN, SALL3, SLC66A2, SMIM21, SOCS6, TIMM21, TMX3, TSHZ1, TXNL4A, ZNF236, ZNF236-DT, ZNF407, ZNF516, ZNF516-DT 1 0 0 0 0 1
ADRA1A, BNIP3L, CCDC25, CDCA2, CHRNA2, CLU, DCTN6, DCTN6-DT, DOCK5, DPYSL2, DUSP4, EBF2, ELP3, EPHX2, ESCO2, EXTL3, FBXO16, FZD3, GNRH1, GSR, GTF2E2, HMBOX1, INTS9, KCTD9, KIF13B, LEPROTL1, LINC00589, LINC02099, LINC02209, LINC02948, LOC101929470, LOC105379331, LOC105379342, LOC108004525, LOC108254664, LOC110121062, LOC110121196, LOC110121233, LOC111465018, LOC113788273, LOC113788274, LOC113788275, LOC113788276, LOC116186925, LOC116186926, LOC121331295, LOC121331296, LOC121331297, LOC121740712, LOC121740713, LOC121740714, LOC124153125, LOC124153126, LOC124153127, LOC124153128, LOC124153129, LOC124153130, LOC124153131, LOC124153132, LOC124153133, LOC124153134, LOC124153135, LOC124153136, LOC124153137, LOC124153138, LOC124153139, LOC124901868, LOC126860330, LOC126860331, LOC126860332, LOC126860333, LOC126860334, LOC126860335, LOC126860336, LOC126860337, LOC126860338, LOC126860339, LOC126860340, LOC126860341, LOC126860342, LOC129389968, LOC129389969, LOC129389970, LOC129389971, LOC129389972, LOC129389973, LOC129389974, LOC129389975, LOC129389976, LOC130000043, LOC130000044, LOC130000045, LOC130000046, LOC130000047, LOC130000048, LOC130000049, LOC130000050, LOC130000051, LOC130000052, LOC130000053, LOC130000054, LOC130000055, LOC130000056, LOC130000057, LOC130000058, LOC130000059, LOC130000060, LOC130000061, LOC130000062, LOC130000063, LOC130000064, LOC130000065, LOC130000066, LOC130000067, LOC130000068, LOC130000069, LOC130000070, LOC130000071, LOC130000072, LOC130000073, LOC130000074, LOC130000075, LOC130000076, LOC130000077, LOC130000078, LOC130000079, LOC130000080, LOC130000081, LOC130000082, LOC130000083, LOC130000084, LOC130000085, LOC130000086, LOC130000087, LOC130000088, LOC130000089, LOC130000090, LOC130000091, LOC130000092, LOC130000093, LOC130000094, LOC130000095, LOC130000096, LOC130000097, LOC130000098, LOC130000099, LOC130000100, LOC130000101, LOC130000102, LOC130000103, LOC130000104, LOC130000105, LOC130000106, LOC130000107, LOC130000108, LOC130000109, LOC130000110, LOC130000111, LOC130000112, LOC130000113, LOC130000114, LOC130000115, LOC130000116, LOC130000117, LOC130000118, LOC130000119, LOC130000120, LOC130000121, LOC130000122, LOC130000123, LOC130000124, LOC130000125, LOC130000126, LOC130000127, LOC130000128, LOC130000129, LOC130000130, LOC130000131, LOC130000132, LOC130000133, LOC130000134, LOC130000135, LOC130000136, LOC130000137, LOC130000138, LOC130000139, LOC130000140, LOC130000141, LOC130000142, LOC130000143, LOC130000144, LOC130000145, LOC130000146, LOC130000147, LOC130000148, LOC130000149, LOC130000150, LOC130000151, LOC130000152, LOC130000153, LOC130000154, LOC130000155, LOC130000156, LOC130000157, LOC130000158, LOC130000159, LOC130000160, LOC130000161, LOC130000162, LOC130000163, LOC130000164, LOC130000165, LOC130000166, LOC130000167, LOC130000168, LOC130000169, LOC130000170, LOC130000171, LOC130000172, LOC130000173, LOC130000174, LOC130000175, LOC130000176, LOC130000177, LOC130000178, LOC130000179, LOC132089597, MBOAT4, MIR3148, MIR3622A, MIR3622B, MIR4287, MIR4288, MIR548H4, MIR6841, MIR6842, MIR6843, MIR6876, NEFL, NEFM, NUGGC, PBK, PNMA2, PNOC, PPP2CB, PPP2R2A, PTK2B, PURG, RBPMS, SARAF, SCARA3, SCARA5, SMIM18, STMN4, TEX15, TRIM35, UBXN8, WRN, ZNF395 1 0 0 0 0 1
ASCL2, C11orf21, CD81, CDKN1C, H19, H19-ICR, HOTS, IGF2, INS, INS-IGF2, KCNQ1, KCNQ1DN, KCNQ1OT1, LINC01219, LOC105274310, LOC106783508, LOC106799843, LOC109623489, LOC113939920, LOC116216127, LOC124418414, LOC124418415, LOC124418416, LOC129390248, LOC130005132, LOC130005133, LOC130005134, LOC130005135, LOC130005136, LOC130005137, LOC130005138, LOC130005139, LOC130005140, LOC130005141, LOC130005142, LOC130005143, LOC130005144, LOC130005145, LOC130005146, LOC132089927, LOC132090832, MIR4686, MIR483, MIR675, MRPL23, SLC22A18AS, TH, TRPM5, TSPAN32, TSSC4 1 0 0 0 0 1
ATF7IP2, GRIN2A, LOC110121335, LOC116276445, LOC125146403, LOC125146404, LOC129390766, LOC129390767, LOC130058419, LOC130058420, LOC130058421, LOC130058422, LOC130058423, LOC130058424, LOC130058425, LOC130058426 0 0 1 0 0 1
ATP2A1, CD19, LAT, LOC112340393, LOC129390780, LOC129390781, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, MIR4517, NFATC2IP, RABEP2, SH2B1, SPNS1 1 0 0 0 0 1
ATXN7L1, BCAP29, CBLL1, CCDC71L, CDHR3, COG5, CTB-30L5.1, DLD, DUS4L, DUS4L-BCAP29, EFCAB10, GPR22, HBP1, LAMB1, LINC02577, LOC110121254, LOC111591504, LOC113687183, LOC113687184, LOC116186904, LOC116186905, LOC116186906, LOC116186907, LOC116186908, LOC116186909, LOC116186910, LOC121175358, LOC121175359, LOC121175360, LOC123956202, LOC123956203, LOC123956204, LOC123956205, LOC123956206, LOC123956207, LOC123956208, LOC123956209, LOC123956210, LOC126860136, LOC126860137, LOC126860138, LOC126860139, LOC126860140, LOC126860141, LOC126860142, LOC126860143, LOC126860144, LOC126860145, LOC126860146, LOC129389833, LOC129389834, LOC129389835, LOC129389836, LOC129389837, LOC129389838, LOC129389839, LOC129999088, LOC129999089, LOC129999090, LOC129999091, LOC129999092, LOC129999093, LOC129999094, LOC129999095, LOC129999096, LOC129999097, LOC129999098, LOC129999099, LOC129999100, LOC129999101, LOC129999102, LOC129999103, LOC129999104, LOC129999105, LOC129999106, LOC129999107, LOC129999108, LOC129999109, LOC129999110, LOC129999111, LOC129999112, LOC129999113, LOC129999114, LOC129999115, LOC129999116, LOC129999117, LOC129999118, LOC129999119, LOC129999120, LOC129999121, LOC129999122, LOC129999123, LOC129999124, LOC129999125, LOC129999126, LOC129999127, NAMPT, PIK3CG, PRKAR2B, SLC26A3, SLC26A4, SYPL1 0 0 1 0 0 1
B3GNTL1, LOC121852957, LOC126862673, LOC126862674, TBCD 0 0 1 0 0 1
CCL24, CCL26, DTX2, FPASL, HIP1, HSPB1, LINC03009, LOC113748413, LOC113748414, LOC116183091, LOC121175347, LOC121740687, LOC121740688, LOC123956165, LOC123956166, LOC123956167, LOC123956168, LOC123956169, LOC123956170, LOC123956171, LOC126860075, LOC129389814, LOC129389815, LOC129389816, LOC129998672, LOC129998673, LOC129998674, LOC129998675, LOC129998676, LOC129998677, LOC129998678, LOC129998679, LOC129998680, LOC129998681, LOC129998682, LOC129998683, LOC129998684, LOC129998685, LOC129998686, LOC129998687, LOC129998688, LOC129998689, LOC129998690, LOC129998691, LOC129998692, LOC129998693, LOC129998694, LOC129998695, LOC129998696, LOC129998697, LOC129998698, LOC129998699, LOC129998700, MDH2, MIR4651, POMZP3, POR, RHBDD2, SNORA14A, SPDYE16, SRRM3, SSC4D, STYXL1, TMEM120A, UPK3B, YWHAG, ZP3 1 0 0 0 0 1
CCSER1, LNCPRESS2, LOC126807111 0 0 1 0 0 1
CHL1, LINC01266, LOC111429626 0 0 1 0 0 1
CNDP1, CNDP2, DIPK1C, LOC110120868, LOC116276492, LOC126862798, LOC130062715, LOC130062716, LOC130062717, LOC130062718, LOC130062719, LOC130062720, LOC130062721, LOC130062722, ZNF407 0 0 0 1 0 1
DMRT1, DMRT2, DMRT3, DOCK8, KANK1, KCNV2, LINC01230, LINC01231, LOC110120591, LOC110121197, LOC113839544, LOC121740737, LOC121740738, LOC124210605, LOC124210606, LOC124210607, LOC124210608, LOC126860552, LOC126860553, LOC126860554, LOC126860555, LOC126860556, LOC126860557, LOC129390062, LOC130001439, LOC130001440, LOC130001441, LOC130001442, LOC130001443, LOC130001444, LOC130001445, LOC130001446, LOC130001447, LOC130001448, LOC130001449, LOC130001450, LOC130001451, LOC130001452, LOC130001453, LOC130001454, LOC130001455, LOC130001456, LOC130001457, LOC130001458, LOC130001459, LOC130001460, LOC130001461, LOC130001462, LOC130001463, LOC130001464, LOC130001465, LOC130001466, LOC130001467, LOC130001468, LOC130001469, LOC130001470, LOC130001471, LOC130001472, PUM3, RFX3, SMARCA2, VLDLR 1 0 0 0 0 1
DOCK8, LOC126860552, LOC130001435, LOC130001436, LOC130001437, LOC130001438, LOC130001439, LOC130001440 0 0 1 0 0 1
FRG1, FRG1-DT, LINC01596, LOC123493255, LOC126807279 1 0 0 0 0 1
LINC00908, LOC125371440, LOC126862811, LOC130062728, LOC130062729, LOC130062730, LOC130062731, LOC130062732, LOC130062733, LOC130062734, LOC130062735, LOC130062736, LOC130062737, LOC130062738, LOC130062739, LOC132090528, ZNF516, ZNF516-DT 0 0 0 0 1 1
LINC01237, LINC01880, LOC122889016, LOC285097 0 0 0 0 1 1
LINC01853 0 0 1 0 0 1
LOC100287704, LOC100287834, LOC101929050 0 0 0 0 1 1
LOC101929550, LOC126860352, LOC126860353, UNC5D 1 0 0 0 0 1
LOC126805678, LOC126805679, LOC129388486, LOC129388487, LOC132088691, LOC132088692, LOC132088693 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 1
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
See cases 15 1 8 2 3 29

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