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Items: 1 to 100 of 2389

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:73763652-73763653
Chr19:1221964-1221965
STK11Adrenal cortex carcinomaUncertain significance
(Jan 20, 2022)
no assertion criteria provided
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
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 casesPathogenic
(Feb 11, 2011)
no assertion criteria provided
4.
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 casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
5.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
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 casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
8.
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 casesLikely pathogenic
(Dec 13, 2010)
no assertion criteria provided
9.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
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 casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
11.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
12.
GRCh37:
Chr19:1143044-1215322
GRCh38:
Chr19:1143045-1215323
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
13.
GRCh37:
Chr19:1144296-1211699
GRCh38:
Chr19:1144297-1211700
See casesUncertain significance
(Dec 16, 2011)
no assertion criteria provided
14.
GRCh37:
Chr19:1156371-1228332
GRCh38:
Chr19:1156372-1228333
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
15.
GRCh37:
Chr19:1205490
GRCh38:
Chr19:1205491
LOC112543439, STK11not providedLikely benign
(Jun 17, 2019)
criteria provided, single submitter
16.
GRCh37:
Chr19:1205637
GRCh38:
Chr19:1205638
LOC112543439, STK11not providedBenign
(Jan 10, 2019)
criteria provided, single submitter
17.
GRCh37:
Chr19:1205797-1205798
GRCh38:
Chr19:1205798-1205799
LOC130062894, STK11not providedUncertain significance
(Dec 24, 2019)
criteria provided, single submitter
18.
GRCh37:
Chr19:1205798-1207202
GRCh38:
Chr19:1205799-1207203
LOC130062894, LOC130062895, STK11Peutz-Jeghers syndromePathogenic
(Mar 21, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr19:1205798-1226662
GRCh38:
Chr19:1205799-1226663
Peutz-Jeghers syndromePathogenic
(Nov 29, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr19:1205815
GRCh38:
Chr19:1205816
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr19:1205816
GRCh38:
Chr19:1205817
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr19:1205858
GRCh38:
Chr19:1205859
LOC130062895, STK11Peutz-Jeghers syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr19:1205889
GRCh38:
Chr19:1205890
LOC130062895, STK11not provided, Peutz-Jeghers syndromeBenign
(Jul 26, 2019)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr19:1205988
GRCh38:
Chr19:1205989
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr19:1206020
GRCh38:
Chr19:1206021
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr19:1206078
GRCh38:
Chr19:1206079
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr19:1206107
GRCh38:
Chr19:1206108
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr19:1206130
GRCh38:
Chr19:1206131
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr19:1206138
GRCh38:
Chr19:1206139
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr19:1206139
GRCh38:
Chr19:1206140
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr19:1206190
GRCh38:
Chr19:1206191
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr19:1206274
GRCh38:
Chr19:1206275
STK11Peutz-Jeghers syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr19:1206323
GRCh38:
Chr19:1206324
STK11Peutz-Jeghers syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr19:1206326
GRCh38:
Chr19:1206327
STK11Peutz-Jeghers syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr19:1206333
GRCh38:
Chr19:1206334
STK11Peutz-Jeghers syndromeBenign
(Apr 16, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr19:1206336
GRCh38:
Chr19:1206337
STK11Peutz-Jeghers syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr19:1206351
GRCh38:
Chr19:1206352
STK11Peutz-Jeghers syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr19:1206362
GRCh38:
Chr19:1206363
STK11Peutz-Jeghers syndromeLikely benign
(May 28, 2019)
criteria provided, single submitter
39.
GRCh37:
Chr19:1206367
GRCh38:
Chr19:1206368
STK11Peutz-Jeghers syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr19:1206393
GRCh38:
Chr19:1206394
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr19:1206439
GRCh38:
Chr19:1206440
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr19:1206452
GRCh38:
Chr19:1206453
STK11Peutz-Jeghers syndromeConflicting interpretations of pathogenicity
(May 28, 2019)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr19:1206466
GRCh38:
Chr19:1206467
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr19:1206483
GRCh38:
Chr19:1206484
STK11Peutz-Jeghers syndrome, not providedBenign/Likely benign
(Sep 16, 2019)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr19:1206525
GRCh38:
Chr19:1206526
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr19:1206526
GRCh38:
Chr19:1206527
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr19:1206580
GRCh38:
Chr19:1206581
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr19:1206602
GRCh38:
Chr19:1206603
STK11not provided, Peutz-Jeghers syndromeBenign/Likely benign
(Mar 6, 2019)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr19:1206611
GRCh38:
Chr19:1206612
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 17, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr19:1206633
GRCh38:
Chr19:1206634
STK11Peutz-Jeghers syndromeLikely benign
(May 28, 2019)
criteria provided, single submitter
51.
GRCh37:
Chr19:1206639
GRCh38:
Chr19:1206640
STK11Peutz-Jeghers syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr19:1206684
GRCh38:
Chr19:1206685
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr19:1206697
GRCh38:
Chr19:1206698
STK11Peutz-Jeghers syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr19:1206720
GRCh38:
Chr19:1206721
STK11Peutz-Jeghers syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr19:1206746
GRCh38:
Chr19:1206747
STK11Peutz-Jeghers syndromeLikely benign
(May 28, 2019)
criteria provided, single submitter
56.
GRCh37:
Chr19:1206763
GRCh38:
Chr19:1206764
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr19:1206776
GRCh38:
Chr19:1206777
STK11Peutz-Jeghers syndromeBenign/Likely benign
(May 28, 2019)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr19:1206777
GRCh38:
Chr19:1206778
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr19:1206785
GRCh38:
Chr19:1206786
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr19:1206786
GRCh38:
Chr19:1206787
STK11Peutz-Jeghers syndrome, not providedBenign/Likely benign
(Apr 1, 2023)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr19:1206796-1206797
GRCh38:
Chr19:1206797-1206798
STK11Peutz-Jeghers syndromeConflicting interpretations of pathogenicity
(May 28, 2019)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr19:1206807
GRCh38:
Chr19:1206808
STK11Peutz-Jeghers syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr19:1206814
GRCh38:
Chr19:1206815
STK11Peutz-Jeghers syndromeLikely benign
(May 28, 2019)
criteria provided, single submitter
64.
GRCh37:
Chr19:1206818
GRCh38:
Chr19:1206819
STK11Peutz-Jeghers syndromeLikely benign
(May 28, 2019)
criteria provided, single submitter
65.
GRCh37:
Chr19:1206832
GRCh38:
Chr19:1206833
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr19:1206858
GRCh38:
Chr19:1206859
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr19:1206863-1206870
GRCh38:
Chr19:1206864-1206871
STK11not specifiedLikely benign
(May 16, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr19:1206864
GRCh38:
Chr19:1206865
STK11not specifiedBenign
(Apr 9, 2015)
criteria provided, single submitter
69.
GRCh37:
Chr19:1206865
GRCh38:
Chr19:1206866
STK11not providedBenign
(Jul 27, 2015)
criteria provided, single submitter
70.
GRCh37:
Chr19:1206865
GRCh38:
Chr19:1206866
STK11not specifiedLikely benign
(Jan 31, 2017)
criteria provided, single submitter
71.
GRCh37:
Chr19:1206894
GRCh38:
Chr19:1206895
STK11not specifiedLikely benign
(May 3, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr19:1206896
GRCh38:
Chr19:1206897
STK11not specifiedLikely benign
(Jan 26, 2017)
criteria provided, single submitter
73.
GRCh37:
Chr19:1206897
GRCh38:
Chr19:1206898
STK11Hereditary cancer-predisposing syndromeLikely benign
(May 2, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr19:1206900
GRCh38:
Chr19:1206901
STK11not specifiedLikely benign
(Mar 1, 2017)
criteria provided, single submitter
75.
GRCh37:
Chr19:1206901
GRCh38:
Chr19:1206902
STK11Hereditary cancer-predisposing syndromeLikely benign
(Apr 30, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr19:1206902
GRCh38:
Chr19:1206903
STK11Hereditary cancer-predisposing syndrome, not specifiedLikely benign
(Feb 11, 2016)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr19:1206903-1226656
GRCh38:
Chr19:1206904-1226657
LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, LOC130062899, LOC110006317, LOC110006318, STK11Peutz-Jeghers syndromeUncertain significance
(Nov 29, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr19:1206903-1222015
GRCh38:
Chr19:1206904-1222016
LOC125371447, LOC130062896, LOC130062897, LOC110006318, LOC121627843, LOC130062898, LOC110006317, STK11Peutz-Jeghers syndromeUncertain significance
(Oct 31, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr19:1206903-1219422
GRCh38:
Chr19:1206904-1219423
LOC110006317, LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, STK11Peutz-Jeghers syndromePathogenic
(Jul 23, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr19:1206903-1223181
GRCh38:
Chr19:1206904-1223182
LOC130062898, LOC130062899, LOC125371447, LOC130062896, LOC130062897, LOC110006317, LOC110006318, LOC121627843, STK11Peutz-Jeghers syndromeUncertain significance
(Oct 19, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr19:1206903-1207212
GRCh38:
Chr19:1206904-1207213
STK11Peutz-Jeghers syndromeUncertain significance
(May 7, 2019)
criteria provided, single submitter
82.
GRCh37:
Chr19:1206903-1226656
GRCh38:
Chr19:1206904-1226657
LOC130062899, LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, STK11Peutz-Jeghers syndromePathogenic
(Sep 16, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr19:1206903
GRCh38:
Chr19:1206904
STK11not specifiedLikely benign
(Jun 2, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr19:1206904
GRCh38:
Chr19:1206905
STK11Hereditary cancer-predisposing syndrome, not specifiedConflicting interpretations of pathogenicity
(Aug 26, 2023)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr19:1206904
GRCh38:
Chr19:1206905
STK11not specified, Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Sep 29, 2021)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr19:1206907
GRCh38:
Chr19:1206908
STK11Hereditary cancer-predisposing syndromeUncertain significance
(Mar 9, 2020)
criteria provided, single submitter
87.
GRCh37:
Chr19:1206907-1221345
GRCh38:
Chr19:1206908-1221346
LOC130062896, LOC130062897, LOC130062898, LOC110006317, LOC110006318, LOC121627843, LOC125371447, STK11Peutz-Jeghers syndromePathogenic
(Feb 18, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr19:1206907-1207208
GRCh38:
Chr19:1206908-1207209
STK11Peutz-Jeghers syndromeUncertain significance
(Sep 18, 2017)
criteria provided, single submitter
89.
GRCh37:
Chr19:1206907-1222011
GRCh38:
Chr19:1206908-1222012
LOC130062898, STK11, LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062896, LOC130062897Peutz-Jeghers syndromeUncertain significance
(Nov 30, 2019)
criteria provided, single submitter
90.
GRCh37:
Chr19:1206907-1226651
GRCh38:
Chr19:1206908-1226652
LOC130062898, LOC130062899, LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062896, LOC130062897, STK11Peutz-Jeghers syndromePathogenic
(Dec 8, 2015)
criteria provided, single submitter
91.
GRCh37:
Chr19:1206908
GRCh38:
Chr19:1206909
STK11Hereditary cancer-predisposing syndromeUncertain significance
(Aug 5, 2023)
criteria provided, single submitter
92.
GRCh37:
Chr19:1206909
GRCh38:
Chr19:1206910
STK11Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndromeUncertain significance
(Nov 9, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr19:1206911-1208215
GRCh38:
Chr19:1206912-1208216
LOC125371447, LOC130062896, STK11Generalized juvenile polyposis/juvenile polyposis coliPathogenicno assertion criteria provided
94.
GRCh37:
Chr19:1206911
GRCh38:
Chr19:1206912
STK11Peutz-Jeghers syndrome, not specified, Hereditary cancer-predisposing syndrome,
not provided
Conflicting interpretations of pathogenicity
(Aug 9, 2021)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr19:1206912-1222005
GRCh38:
Chr19:1206913-1222006
LOC130062897, LOC130062898, LOC130062896, LOC110006317, LOC110006318, LOC121627843, LOC125371447, STK11Hereditary cancer-predisposing syndromePathogenic
(Nov 20, 2015)
criteria provided, single submitter
96.
GRCh37:
Chr19:1206912
GRCh38:
Chr19:1206913
STK11not specified, not provided, Hereditary cancer-predisposing syndrome,
Peutz-Jeghers syndrome
Conflicting interpretations of pathogenicity
(Jun 8, 2023)
criteria provided, conflicting interpretations
97.
GRCh37:
Chr19:1206913
GRCh38:
Chr19:1206914
STK11M1Vnot providedUncertain significance
(Apr 11, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr19:1206913
GRCh38:
Chr19:1206914
STK11M1LHereditary cancer-predisposing syndromeUncertain significance
(Dec 12, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr19:1206916
GRCh38:
Chr19:1206917
STK11E2QHereditary cancer-predisposing syndrome, Peutz-Jeghers syndromeUncertain significance
(Mar 10, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr19:1206917
GRCh38:
Chr19:1206918
STK11E2Anot provided, Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
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