| - GRCh37:
- Chr17:73763652-73763653
- Chr19:1221964-1221965
| STK11 | | Adrenal cortex carcinoma | Uncertain significance (Jan 20, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr19:233565-4699484
- GRCh38:
- Chr19:233565-4699472
| ABCA7, ABHD17A, ADAMTSL5, ADAT3, AMH, ANKRD24, AP3D1, APBA3, APC2, ARHGAP45, ARID3A, ATCAY, ATP5F1D, ATP8B3, AZU1, BSG, BSG-AS1, BTBD2, C19orf25, C2CD4C, CACTIN, CACTIN-AS1, CBARP, CBARP-DT, CDC34, CELF5, CFD, CHAF1A, CIMAP1D, CIRBP, CIRBP-AS1, CNN2, CREB3L3, CSNK1G2, CSNK1G2-AS1, DAPK3, DAZAP1, DIRAS1, DOHH, DOT1L, DPP9, DPP9-AS1, EBI3, EEF2, EFNA2, ELANE, FAM174C, FGF22, FSD1, FSTL3, FZR1, GADD45B, GAMT, GIPC3, GNA11, GNA15, GNA15-DT, GNG7, GPX4, GRIN3B, GZMM, HCN2, MADCAM1, MADCAM1-AS1, MAP2K2, MATK, MBD3, MED16, MEX3D, MFSD12, MIDN, MIER2, MIR1227, MIR1909, MIR3187, MIR4321, MIR4745, MIR4746, MIR637, MIR6789, MIR7108, MIR7850, MISP, MKNK2, MOB3A, MPND, MRPL54, MYDGF, NCLN, NDUFS7, NFIC, NMRK2, OAZ1, ONECUT3, PALM, PCSK4, PEAK3, PIAS4, PIP5K1C, PLEKHJ1, PLIN4, PLIN5, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, RAX2, REEP6, REXO1, RNF126, RNU6-2, RNU6-9, RPS15, S1PR4, SBNO2, SCAMP4, SEMA6B, SF3A2, SGTA, SH3GL1, SHC2, SHD, SIRT6, SLC39A3, SMIM24, SMIM44, SNORD37, SPMAP2, SPPL2B, STAP2, STK11, TBXA2R, TCF3, TEKTIP1, THOP1, TIMM13, TJP3, TLE2, TLE5, TLE6, TMEM259, TMIGD2, TMPRSS9, TNFAIP8L1, TPGS1, TRF-GAA1-6, TRN-GTT2-6, UBXN6, UQCR11, WDR18, YJU2, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF57, ZNF77, HDGFL2, HMG20B, IZUMO4, JSRP1, KISS1R, KLF16, LINC01775, LINGO3, LMNB2, LOC100288123, LOC101928450, LOC105372244, LOC106804547, LOC108254692, LOC108281123, LOC108348031, LOC108783649, LOC110006317, LOC110006318, LOC111413035, LOC111556134, LOC111721712, LOC111828491, LOC112543439, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC113939966, LOC113939970, LOC116276493, LOC116276494, LOC116276495, LOC116276496, LOC116276497, LOC116276498, LOC121627842, LOC121627843, LOC121627844, LOC121627845, LOC121627846, LOC121627847, LOC121627848, LOC121627849, LOC121627850, LOC121627851, LOC121852971, LOC121852972, LOC121852973, LOC121852974, LOC125371444, LOC125371446, LOC125371447, LOC125371448, LOC125371449, LOC125371450, LOC125371451, LOC125371452, LOC125371453, LOC125371455, LOC125371457, LOC126862835, LOC126862836, LOC126862837, LOC126862838, LOC126862839, LOC126862840, 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, 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, LOC132090902, LRG1, LSM7 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:259395-6795622
- GRCh38:
- Chr19:259395-6795611
| ABCA7, ABHD17A, ACER1, ACSBG2, ADAMTSL5, ADAT3, ALKBH7, AMH, ANKRD24, AP3D1, APBA3, APC2, ARHGAP45, ARID3A, ARRDC5, ATCAY, ATP5F1D, ATP8B3, AZU1, BSG, BSG-AS1, BTBD2, C19orf25, C2CD4C, C3, CACTIN, CACTIN-AS1, CAPS, CATSPERD, CBARP, CBARP-DT, CD70, CDC34, CELF5, CFD, CHAF1A, CIMAP1D, CIRBP, CIRBP-AS1, CLPP, CNN2, CRB3, CREB3L3, CSNK1G2, CSNK1G2-AS1, DAPK3, DAZAP1, DENND1C, DIRAS1, DOHH, DOT1L, 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, MADCAM1-AS1, 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, PTPRS-AS1, 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, DPP9, DPP9-AS1, 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 | | See cases | Pathogenic (Feb 11, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr19:259395-2068506
- GRCh38:
- Chr19:259395-2068507
| STK11, TCF3, TMEM259, TPGS1, TRF-GAA1-6, TRN-GTT2-6, UQCR11, WDR18, ABCA7, ABHD17A, ADAMTSL5, ADAT3, APC2, ARHGAP45, ARID3A, ATP5F1D, ATP8B3, AZU1, BSG, BSG-AS1, BTBD2, C19orf25, C2CD4C, CBARP, CBARP-DT, CDC34, CFD, CIMAP1D, CIRBP, CIRBP-AS1, CNN2, CSNK1G2, CSNK1G2-AS1, DAZAP1, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GAMT, GPX4, GRIN3B, GZMM, HCN2, KISS1R, KLF16, LOC100288123, LOC101928450, LOC108254692, LOC108281123, LOC110006317, LOC110006318, LOC111413035, LOC112543439, LOC112543440, LOC112543441, LOC112543443, LOC113939966, LOC116276493, LOC116276494, LOC116276495, LOC116276496, LOC116276497, LOC116276498, LOC121627842, LOC121627843, LOC121627844, LOC121627845, LOC121852971, LOC125371444, LOC125371446, LOC125371447, LOC125371448, LOC125371449, LOC126862835, LOC126862836, LOC126862837, LOC126862838, LOC128900001, LOC129391009, LOC129391010, LOC129391011, LOC129391012, LOC129391013, LOC129391014, LOC129391015, LOC129391016, LOC129391017, LOC129391018, LOC129391019, LOC129391020, LOC129391021, 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, LOC132090902, MADCAM1, MADCAM1-AS1, MBD3, MED16, MEX3D, MIDN, MIER2, MIR1909, MIR3187, MIR4745, MISP, MKNK2, NDUFS7, ONECUT3, PALM, PCSK4, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, REEP6, REXO1, RNF126, RNU6-2, RNU6-9, RPS15, SBNO2, SCAMP4, SHC2, SPMAP2 | | See cases | Pathogenic (Jul 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr19:259395-1952649
- GRCh38:
- Chr19:259395-1952650
| 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, LOC132090902, MADCAM1, MADCAM1-AS1, MBD3, MED16, MEX3D, MIDN, MIER2, MIR1909, MIR3187, MIR4745, MISP, NDUFS7, ONECUT3, PALM, PCSK4, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, REEP6, REXO1, RNF126, RNU6-2, RNU6-9, RPS15, SBNO2, SCAMP4, SHC2, SPMAP2, STK11, TCF3, TMEM259, TPGS1, TRF-GAA1-6, TRN-GTT2-6, UQCR11, WDR18, ABCA7, ABHD17A, ADAMTSL5, ADAT3, APC2, ARHGAP45, ARID3A, ATP5F1D, ATP8B3, AZU1, BSG, BSG-AS1, C19orf25, C2CD4C, CBARP, CBARP-DT, CDC34, CFD, CIMAP1D, CIRBP, CIRBP-AS1, CNN2, CSNK1G2, CSNK1G2-AS1, DAZAP1, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GAMT, GPX4, GRIN3B, GZMM, HCN2, KISS1R, KLF16, LOC100288123, LOC101928450, LOC108254692, LOC108281123, LOC110006317, LOC110006318, LOC111413035, LOC112543439, LOC112543440, LOC112543441, LOC112543443, LOC113939966, LOC116276493, LOC116276494, LOC116276495, LOC116276496, LOC121627842, LOC121627843, LOC121627844, LOC121627845, LOC121852971, LOC125371444, LOC125371446, LOC125371447, LOC125371448, LOC125371449, LOC126862835, LOC126862836, LOC126862837, LOC126862838, LOC128900001, LOC129391009, LOC129391010, LOC129391011, LOC129391012, LOC129391013, LOC129391014, LOC129391015, LOC129391016, LOC129391017, LOC129391018, LOC129391019, LOC129391020, LOC129391021, 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 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:259395-2555147
- GRCh38:
- Chr19:259395-2555149
| ABCA7, ABHD17A, ADAMTSL5, ADAT3, AMH, AP3D1, APC2, ARHGAP45, ARID3A, ATP5F1D, ATP8B3, AZU1, BSG, BSG-AS1, BTBD2, C19orf25, C2CD4C, CBARP, CBARP-DT, CDC34, CFD, CIMAP1D, CIRBP, CIRBP-AS1, CNN2, CSNK1G2, CSNK1G2-AS1, DAZAP1, DOT1L, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GADD45B, GAMT, GNG7, GPX4, GRIN3B, GZMM, HCN2, IZUMO4, JSRP1, KISS1R, KLF16, LINC01775, LINGO3, LMNB2, LOC100288123, LOC101928450, LOC106804547, LOC108254692, LOC108281123, LOC108783649, LOC110006317, LOC110006318, LOC111413035, LOC112543439, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC113939966, LOC116276493, LOC116276494, LOC116276495, LOC116276496, LOC116276497, LOC116276498, LOC121627842, LOC121627843, LOC121627844, LOC121627845, LOC121627846, LOC121627847, LOC121852971, LOC125371444, LOC125371446, LOC125371447, LOC125371448, LOC125371449, LOC126862835, LOC126862836, LOC126862837, LOC126862838, LOC128900001, LOC129391009, LOC129391010, LOC129391011, LOC129391012, LOC129391013, LOC129391014, LOC129391015, LOC129391016, LOC129391017, LOC129391018, LOC129391019, LOC129391020, LOC129391021, LOC129391022, 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, LOC132090902, LSM7, MADCAM1, MADCAM1-AS1, MBD3, MED16, MEX3D, MIDN, MIER2, MIR1227, MIR1909, MIR3187, MIR4321, MIR4745, MIR6789, MIR7108, MISP, MKNK2, MOB3A, NDUFS7, OAZ1, ONECUT3, PALM, PCSK4, PEAK3, PLEKHJ1, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, REEP6, REXO1, RNF126, RNU6-2, RNU6-9, RPS15, SBNO2, SCAMP4, SF3A2, SHC2, SPMAP2, SPPL2B, STK11, TCF3, TIMM13, TMEM259, TMPRSS9, TPGS1, TRF-GAA1-6, TRN-GTT2-6, UQCR11, WDR18 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:275925-1892275
- GRCh38:
- Chr19:275925-1892276
| 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, LOC132090902, MADCAM1, MADCAM1-AS1, MBD3, MED16, MEX3D, MIDN, MIER2, MIR1909, MIR3187, MIR4745, MISP, NDUFS7, ONECUT3, PALM, PCSK4, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, REEP6, REXO1, RNF126, RNU6-2, RNU6-9, RPS15, SBNO2, SHC2, SPMAP2, STK11, TCF3, TMEM259, TPGS1, TRF-GAA1-6, TRN-GTT2-6, UQCR11, WDR18, ABCA7, ABHD17A, ADAMTSL5, APC2, ARHGAP45, ARID3A, ATP5F1D, ATP8B3, AZU1, BSG, BSG-AS1, C19orf25, C2CD4C, CBARP, CBARP-DT, CDC34, CFD, CIMAP1D, CIRBP, CIRBP-AS1, CNN2, DAZAP1, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GAMT, GPX4, GRIN3B, GZMM, HCN2, KISS1R, KLF16, LOC100288123, LOC101928450, LOC108254692, LOC108281123, LOC110006317, LOC110006318, LOC111413035, LOC112543439, LOC112543440, LOC112543441, LOC113939966, LOC116276493, LOC116276494, LOC116276495, LOC116276496, LOC121627842, LOC121627843, LOC121627844, LOC121627845, LOC121852971, LOC125371444, LOC125371446, LOC125371447, LOC125371448, LOC126862835, LOC126862836, LOC126862837, LOC126862838, LOC128900001, LOC129391010, LOC129391011, LOC129391012, LOC129391013, LOC129391014, LOC129391015, LOC129391016, LOC129391017, LOC129391018, LOC129391019, LOC129391020, LOC129391021, 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 | | See cases | Pathogenic (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr19:421537-2897919
- GRCh38:
- Chr19:421537-2897921
| ABCA7, ABHD17A, ADAMTSL5, ADAT3, AMH, AP3D1, APC2, ARHGAP45, ARID3A, ATP5F1D, ATP8B3, AZU1, BSG, BSG-AS1, BTBD2, C19orf25, CBARP, CBARP-DT, CDC34, CFD, CIMAP1D, CIRBP, CIRBP-AS1, CNN2, CSNK1G2, CSNK1G2-AS1, DAZAP1, DIRAS1, DOT1L, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GADD45B, GAMT, GNG7, GPX4, GRIN3B, GZMM, HCN2, IZUMO4, JSRP1, KISS1R, KLF16, LINC01775, LINGO3, LMNB2, LOC100288123, LOC101928450, LOC106804547, LOC108254692, LOC108348031, LOC108783649, LOC110006317, LOC110006318, LOC111413035, LOC111556134, LOC112543439, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC112543476, LOC112543477, LOC113939966, LOC116276493, LOC116276494, LOC116276495, LOC116276496, LOC116276497, LOC116276498, LOC121627842, LOC121627843, LOC121627844, LOC121627845, LOC121627846, LOC121627847, LOC121852971, LOC125371444, LOC125371446, LOC125371447, LOC125371448, LOC125371449, LOC126862836, LOC126862837, LOC126862838, LOC126862839, LOC128900001, LOC129391014, LOC129391015, LOC129391016, LOC129391017, LOC129391018, LOC129391019, LOC129391020, LOC129391021, LOC129391022, LOC129391023, LOC129391024, LOC129391025, LOC129929036, 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, LOC132090902, LSM7, MADCAM1, MADCAM1-AS1, MBD3, MED16, MEX3D, MIDN, MIR1227, MIR1909, MIR3187, MIR4321, MIR4745, MIR6789, MIR7108, MIR7850, MISP, MKNK2, MOB3A, NDUFS7, OAZ1, ONECUT3, PALM, PCSK4, PEAK3, PLEKHJ1, PLK5, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, REEP6, REXO1, RNF126, RNU6-2, RNU6-9, RPS15, SBNO2, SCAMP4, SF3A2, SGTA, SHC2, SLC39A3, SPPL2B, STK11, TCF3, THOP1, TIMM13, TMEM259, TMPRSS9, TPGS1, TRF-GAA1-6, TRN-GTT2-6, UQCR11, WDR18, ZNF554, ZNF555, ZNF556 | | See cases | Likely pathogenic (Dec 13, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:591812-1358151
- GRCh38:
- Chr19:591812-1358152
| ABCA7, ARHGAP45, ARID3A, ATP5F1D, AZU1, CBARP, CBARP-DT, CFD, CIRBP, CIRBP-AS1, CNN2, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GPX4, GRIN3B, HCN2, KISS1R, LOC101928450, LOC108254692, LOC110006317, LOC110006318, LOC111413035, LOC112543439, LOC116276494, LOC116276495, LOC121627842, LOC121627843, LOC121852971, LOC125371446, LOC125371447, LOC126862837, LOC129391015, LOC129391016, LOC129391017, 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, LOC132090902, MED16, MIDN, MIR3187, MIR4745, MISP, PALM, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, RNF126, RNU6-2, RNU6-9, SBNO2, STK11, TMEM259, WDR18 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:786550-1297499
- GRCh38:
- Chr19:786550-1297500
| ABCA7, ARHGAP45, ARID3A, ATP5F1D, AZU1, CBARP, CBARP-DT, CFD, CIRBP, CIRBP-AS1, CNN2, EFNA2, ELANE, FAM174C, GPX4, GRIN3B, KISS1R, LOC108254692, LOC110006317, LOC110006318, LOC111413035, LOC112543439, LOC116276494, LOC116276495, LOC121627842, LOC121627843, LOC121852971, LOC125371446, LOC125371447, LOC126862837, LOC129391016, LOC129391017, 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, LOC132090902, MED16, MIDN, MIR3187, MIR4745, PLPPR3, POLR2E, PRTN3, PTBP1, R3HDM4, RNU6-2, RNU6-9, SBNO2, STK11, TMEM259, WDR18 | | See cases | Pathogenic (Oct 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:945098-1972298
- GRCh38:
- Chr19:945098-1972299
| 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, LOC132090902, MBD3, MEX3D, MIDN, MIR1909, NDUFS7, ONECUT3, PCSK4, PLK5, POLR2E, PWWP3A, REEP6, REXO1, RNU6-2, RPS15, SBNO2, SCAMP4, STK11, TCF3, TMEM259, TRF-GAA1-6, TRN-GTT2-6, UQCR11, WDR18, ABCA7, ABHD17A, ADAMTSL5, ADAT3, APC2, ARHGAP45, ARID3A, ATP5F1D, ATP8B3, C19orf25, CBARP, CBARP-DT, CIRBP, CIRBP-AS1, CNN2, CSNK1G2, CSNK1G2-AS1, DAZAP1, EFNA2, FAM174C, GAMT, GPX4, GRIN3B, KLF16, LOC100288123, LOC108254692, LOC110006317, LOC110006318, LOC111413035, LOC112543439, LOC112543440, LOC112543441, LOC112543443, LOC113939966, LOC116276496, LOC121627843, LOC121627844, LOC121627845, LOC121852971, LOC125371446, LOC125371447, LOC125371448, LOC125371449, LOC126862837, LOC126862838, LOC128900001, LOC129391017, LOC129391018, LOC129391019, LOC129391020, LOC129391021, 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 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1143044-1215322
- GRCh38:
- Chr19:1143045-1215323
| LOC108254692, LOC110006317, LOC112543439, LOC125371446, LOC125371447, LOC126862837, LOC130062888, LOC130062889, LOC130062890, LOC130062891, LOC130062892, LOC130062893, LOC130062894, LOC130062895, LOC130062896, LOC130062897, LOC130062898, SBNO2, STK11 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1144296-1211699
- GRCh38:
- Chr19:1144297-1211700
| LOC108254692, LOC112543439, LOC125371446, LOC125371447, LOC126862837, LOC130062888, LOC130062889, LOC130062890, LOC130062891, LOC130062892, LOC130062893, LOC130062894, LOC130062895, LOC130062896, SBNO2, STK11 | | See cases | Uncertain significance (Dec 16, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr19:1156371-1228332
- GRCh38:
- Chr19:1156372-1228333
| CBARP, LOC108254692, LOC110006317, LOC110006318, LOC112543439, LOC121627843, LOC125371446, LOC125371447, LOC126862837, LOC130062888, LOC130062889, LOC130062890, LOC130062891, LOC130062892, LOC130062893, LOC130062894, LOC130062895, LOC130062896, LOC130062897, LOC130062898, LOC130062899, SBNO2, STK11 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1205490
- GRCh38:
- Chr19:1205491
| LOC112543439, STK11 | | not provided | Likely benign (Jun 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1205637
- GRCh38:
- Chr19:1205638
| LOC112543439, STK11 | | not provided | Benign (Jan 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1205797-1205798
- GRCh38:
- Chr19:1205798-1205799
| LOC130062894, STK11 | | not provided | Uncertain significance (Dec 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1205798-1207202
- GRCh38:
- Chr19:1205799-1207203
| LOC130062894, LOC130062895, STK11 | | Peutz-Jeghers syndrome | Pathogenic (Mar 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1205798-1226662
- GRCh38:
- Chr19:1205799-1226663
| LOC130062895, LOC130062896, LOC130062897, LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062898, LOC130062899, LOC130062894, STK11 | | Peutz-Jeghers syndrome | Pathogenic (Nov 29, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1205815
- GRCh38:
- Chr19:1205816
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1205816
- GRCh38:
- Chr19:1205817
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1205858
- GRCh38:
- Chr19:1205859
| LOC130062895, STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1205889
- GRCh38:
- Chr19:1205890
| LOC130062895, STK11 | | not provided, Peutz-Jeghers syndrome | Benign (Jul 26, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1205988
- GRCh38:
- Chr19:1205989
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206020
- GRCh38:
- Chr19:1206021
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206078
- GRCh38:
- Chr19:1206079
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206107
- GRCh38:
- Chr19:1206108
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206130
- GRCh38:
- Chr19:1206131
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206138
- GRCh38:
- Chr19:1206139
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206139
- GRCh38:
- Chr19:1206140
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206190
- GRCh38:
- Chr19:1206191
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206274
- GRCh38:
- Chr19:1206275
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206323
- GRCh38:
- Chr19:1206324
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206326
- GRCh38:
- Chr19:1206327
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206333
- GRCh38:
- Chr19:1206334
| STK11 | | Peutz-Jeghers syndrome | Benign (Apr 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206336
- GRCh38:
- Chr19:1206337
| STK11 | | Peutz-Jeghers syndrome | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206351
- GRCh38:
- Chr19:1206352
| STK11 | | Peutz-Jeghers syndrome | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206362
- GRCh38:
- Chr19:1206363
| STK11 | | Peutz-Jeghers syndrome | Likely benign (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206367
- GRCh38:
- Chr19:1206368
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206393
- GRCh38:
- Chr19:1206394
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206439
- GRCh38:
- Chr19:1206440
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206452
- GRCh38:
- Chr19:1206453
| STK11 | | Peutz-Jeghers syndrome | Conflicting interpretations of pathogenicity (May 28, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:1206466
- GRCh38:
- Chr19:1206467
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206483
- GRCh38:
- Chr19:1206484
| STK11 | | Peutz-Jeghers syndrome, not provided | Benign/Likely benign (Sep 16, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1206525
- GRCh38:
- Chr19:1206526
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206526
- GRCh38:
- Chr19:1206527
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206580
- GRCh38:
- Chr19:1206581
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206602
- GRCh38:
- Chr19:1206603
| STK11 | | not provided, Peutz-Jeghers syndrome | Benign/Likely benign (Mar 6, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1206611
- GRCh38:
- Chr19:1206612
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206633
- GRCh38:
- Chr19:1206634
| STK11 | | Peutz-Jeghers syndrome | Likely benign (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206639
- GRCh38:
- Chr19:1206640
| STK11 | | Peutz-Jeghers syndrome | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206684
- GRCh38:
- Chr19:1206685
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206697
- GRCh38:
- Chr19:1206698
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206720
- GRCh38:
- Chr19:1206721
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206746
- GRCh38:
- Chr19:1206747
| STK11 | | Peutz-Jeghers syndrome | Likely benign (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206763
- GRCh38:
- Chr19:1206764
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206776
- GRCh38:
- Chr19:1206777
| STK11 | | Peutz-Jeghers syndrome | Benign/Likely benign (May 28, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1206777
- GRCh38:
- Chr19:1206778
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206785
- GRCh38:
- Chr19:1206786
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206786
- GRCh38:
- Chr19:1206787
| STK11 | | Peutz-Jeghers syndrome, not provided | Benign/Likely benign (Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1206796-1206797
- GRCh38:
- Chr19:1206797-1206798
| STK11 | | Peutz-Jeghers syndrome | Conflicting interpretations of pathogenicity (May 28, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:1206807
- GRCh38:
- Chr19:1206808
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206814
- GRCh38:
- Chr19:1206815
| STK11 | | Peutz-Jeghers syndrome | Likely benign (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206818
- GRCh38:
- Chr19:1206819
| STK11 | | Peutz-Jeghers syndrome | Likely benign (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206832
- GRCh38:
- Chr19:1206833
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206858
- GRCh38:
- Chr19:1206859
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206863-1206870
- GRCh38:
- Chr19:1206864-1206871
| STK11 | | not specified | Likely benign (May 16, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206864
- GRCh38:
- Chr19:1206865
| STK11 | | not specified | Benign (Apr 9, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206865
- GRCh38:
- Chr19:1206866
| STK11 | | not provided | Benign (Jul 27, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206865
- GRCh38:
- Chr19:1206866
| STK11 | | not specified | Likely benign (Jan 31, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206894
- GRCh38:
- Chr19:1206895
| STK11 | | not specified | Likely benign (May 3, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206896
- GRCh38:
- Chr19:1206897
| STK11 | | not specified | Likely benign (Jan 26, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206897
- GRCh38:
- Chr19:1206898
| STK11 | | Hereditary cancer-predisposing syndrome | Likely benign (May 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206900
- GRCh38:
- Chr19:1206901
| STK11 | | not specified | Likely benign (Mar 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206901
- GRCh38:
- Chr19:1206902
| STK11 | | Hereditary cancer-predisposing syndrome | Likely benign (Apr 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206902
- GRCh38:
- Chr19:1206903
| STK11 | | Hereditary cancer-predisposing syndrome, not specified | Likely benign (Feb 11, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1206903-1226656
- GRCh38:
- Chr19:1206904-1226657
| LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, LOC130062899, LOC110006317, LOC110006318, STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Nov 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206903-1222015
- GRCh38:
- Chr19:1206904-1222016
| LOC125371447, LOC130062896, LOC130062897, LOC110006318, LOC121627843, LOC130062898, LOC110006317, STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Oct 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206903-1219422
- GRCh38:
- Chr19:1206904-1219423
| LOC110006317, LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, STK11 | | Peutz-Jeghers syndrome | Pathogenic (Jul 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206903-1223181
- GRCh38:
- Chr19:1206904-1223182
| LOC130062898, LOC130062899, LOC125371447, LOC130062896, LOC130062897, LOC110006317, LOC110006318, LOC121627843, STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Oct 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206903-1207212
- GRCh38:
- Chr19:1206904-1207213
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (May 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206903-1226656
- GRCh38:
- Chr19:1206904-1226657
| LOC130062899, LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, STK11 | | Peutz-Jeghers syndrome | Pathogenic (Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206903
- GRCh38:
- Chr19:1206904
| STK11 | | not specified | Likely benign (Jun 2, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206904
- GRCh38:
- Chr19:1206905
| STK11 | | Hereditary cancer-predisposing syndrome, not specified | Conflicting interpretations of pathogenicity (Aug 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:1206904
- GRCh38:
- Chr19:1206905
| STK11 | | not specified, Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
| Conflicting interpretations of pathogenicity (Sep 29, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:1206907
- GRCh38:
- Chr19:1206908
| STK11 | | Hereditary cancer-predisposing syndrome | Uncertain significance (Mar 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206907-1221345
- GRCh38:
- Chr19:1206908-1221346
| LOC130062896, LOC130062897, LOC130062898, LOC110006317, LOC110006318, LOC121627843, LOC125371447, STK11 | | Peutz-Jeghers syndrome | Pathogenic (Feb 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206907-1207208
- GRCh38:
- Chr19:1206908-1207209
| STK11 | | Peutz-Jeghers syndrome | Uncertain significance (Sep 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206907-1222011
- GRCh38:
- Chr19:1206908-1222012
| LOC130062898, STK11, LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062896, LOC130062897 | | Peutz-Jeghers syndrome | Uncertain significance (Nov 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206907-1226651
- GRCh38:
- Chr19:1206908-1226652
| LOC130062898, LOC130062899, LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062896, LOC130062897, STK11 | | Peutz-Jeghers syndrome | Pathogenic (Dec 8, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206908
- GRCh38:
- Chr19:1206909
| STK11 | | Hereditary cancer-predisposing syndrome | Uncertain significance (Aug 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206909
- GRCh38:
- Chr19:1206910
| STK11 | | Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome | Uncertain significance (Nov 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1206911-1208215
- GRCh38:
- Chr19:1206912-1208216
| LOC125371447, LOC130062896, STK11 | | Generalized juvenile polyposis/juvenile polyposis coli | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr19:1206911
- GRCh38:
- Chr19:1206912
| STK11 | | Peutz-Jeghers syndrome, not specified, Hereditary cancer-predisposing syndrome, not provided | Conflicting interpretations of pathogenicity (Aug 9, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:1206912-1222005
- GRCh38:
- Chr19:1206913-1222006
| LOC130062897, LOC130062898, LOC130062896, LOC110006317, LOC110006318, LOC121627843, LOC125371447, STK11 | | Hereditary cancer-predisposing syndrome | Pathogenic (Nov 20, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206912
- GRCh38:
- Chr19:1206913
| STK11 | | not specified, not provided, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome | Conflicting interpretations of pathogenicity (Jun 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:1206913
- GRCh38:
- Chr19:1206914
| STK11 | M1V | not provided | Uncertain significance (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206913
- GRCh38:
- Chr19:1206914
| STK11 | M1L | Hereditary cancer-predisposing syndrome | Uncertain significance (Dec 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1206916
- GRCh38:
- Chr19:1206917
| STK11 | E2Q | Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome | Uncertain significance (Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:1206917
- GRCh38:
- Chr19:1206918
| STK11 | E2A | not provided, Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
| Uncertain significance (Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |