| - 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:
- Chr19:1549143-4288717
- GRCh38:
- Chr19:1549144-4288720
| ABHD17A, ADAT3, AMH, ANKRD24, AP3D1, APBA3, ATCAY, ATP8B3, BTBD2, CACTIN, CACTIN-AS1, CELF5, CREB3L3, CSNK1G2, CSNK1G2-AS1, DAPK3, DIRAS1, DOHH, DOT1L, EBI3, EEF2, FZR1, GADD45B, GIPC3, GNA11, GNA15, GNA15-DT, GNG7, HMG20B, IZUMO4, JSRP1, KLF16, LINC01775, LINGO3, LMNB2, LOC100288123, LOC105372244, LOC106804547, LOC108348031, LOC108783649, LOC111556134, LOC111721712, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC113939970, LOC116276497, LOC116276498, LOC121627845, LOC121627846, LOC121627847, LOC121627848, LOC121627849, LOC121852972, LOC121852973, LOC125371448, LOC125371449, LOC125371450, LOC125371451, LOC125371452, LOC125371453, LOC125371455, LOC126862838, LOC126862839, LOC128772422, LOC128772423, LOC128772424, LOC128900001, LOC129391019, LOC129391020, LOC129391021, LOC129391022, LOC129391023, LOC129391024, LOC129391025, LOC129391026, LOC129391027, LOC129391028, LOC129391029, LOC129391030, LOC129391031, LOC129391032, LOC129391033, LOC129391034, LOC129391035, LOC129391036, LOC129391037, LOC129929036, 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, LSM7, MAP2K2, MATK, MBD3, MEX3D, MFSD12, MIR1227, MIR1909, MIR4321, MIR637, MIR6789, MIR7108, MIR7850, MKNK2, MOB3A, MRPL54, NCLN, NFIC, NMRK2, OAZ1, ONECUT3, PEAK3, PIAS4, PIP5K1C, PLEKHJ1, RAX2, REXO1, S1PR4, SCAMP4, SF3A2, SGTA, SHD, SIRT6, SLC39A3, SMIM24, SMIM44, SNORD37, SPPL2B, TBXA2R, TCF3, TEKTIP1, THOP1, TIMM13, TJP3, TLE2, TLE5, TLE6, TMPRSS9, UQCR11, YJU2, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF57, ZNF77 | | See cases | Pathogenic (Aug 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:1565574-4108126
- GRCh38:
- Chr19:1565575-4108128
| ABHD17A, ADAT3, AMH, AP3D1, APBA3, ATCAY, ATP8B3, BTBD2, CACTIN, CACTIN-AS1, CELF5, CSNK1G2, CSNK1G2-AS1, DAPK3, DIRAS1, DOHH, DOT1L, EEF2, FZR1, GADD45B, GIPC3, GNA11, GNA15, GNA15-DT, GNG7, HMG20B, IZUMO4, JSRP1, KLF16, LINC01775, LINGO3, LMNB2, LOC100288123, LOC105372244, LOC106804547, LOC108348031, LOC108783649, LOC111556134, LOC111721712, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC113939970, LOC116276497, LOC116276498, LOC121627845, LOC121627846, LOC121627847, LOC121627848, LOC121852972, LOC121852973, LOC125371449, LOC125371450, LOC125371451, LOC125371452, LOC125371453, LOC126862838, LOC126862839, LOC128772422, LOC128772423, LOC128772424, LOC128900001, LOC129391019, LOC129391020, LOC129391021, LOC129391022, LOC129391023, LOC129391024, LOC129391025, LOC129391026, LOC129391027, LOC129391028, LOC129391029, LOC129391030, LOC129391031, LOC129391032, LOC129391033, LOC129391034, LOC129929036, 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, LSM7, MAP2K2, MATK, MBD3, MEX3D, MFSD12, MIR1227, MIR1909, MIR4321, MIR637, MIR6789, MIR7108, MIR7850, MKNK2, MOB3A, MRPL54, NCLN, NFIC, NMRK2, OAZ1, ONECUT3, PEAK3, PIAS4, PIP5K1C, PLEKHJ1, RAX2, REXO1, S1PR4, SCAMP4, SF3A2, SGTA, SLC39A3, SMIM24, SMIM44, SNORD37, SPPL2B, TBXA2R, TCF3, TEKTIP1, THOP1, TIMM13, TJP3, TLE2, TLE5, TLE6, TMPRSS9, UQCR11, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF57, ZNF77 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1972244-9759555
- GRCh38:
- Chr19:1972245-9648879
| 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, LOC130063342, LOC130063343, LOC130063344, LOC130063345, LOC130063346, LOC130063347, LOC130063348, LOC130063349, LOC130063350, LOC130063351, LOC130063352, LOC130063353, LOC130063354, LOC130063355, LOC130063356, LOC130063357, LOC130063358, LOC130063359, LOC130063360, LOC130063361, LOC130063362, LOC130063363, LOC130063364, LOC130063365, LOC130063366, LOC130063367, LOC130063368, LOC130063369, LOC130063370, LOC130063371, LOC130063372, LOC130063373, LOC130063374, LOC130063375, LOC130063376, LOC130063377, LOC130063378, LOC130063379, LOC130063380, LOC130063381, LOC130063382, LOC130063383, LOC130063384, LOC130063385, LOC130063386, LOC130063387, LOC130063388, LOC130063389, LOC130063390, LOC130063391, LOC130063392, LOC130063393, LOC130063394, LOC130063395, LOC130063396, LOC130063397, LOC130063398, LOC130063399, LOC130063400, LOC130063401, LOC130063402, LOC130063403, LOC130063404, LOC130063405, LOC130063406, LOC130063407, LOC130063408, LOC130063409, LOC130063410, LOC130063411, LOC130063412, LOC130063413, LOC130063414, LOC130063415, LOC130063416, LOC130063417, LOC130063418, LOC130063419, LOC130063420, LOC130063421, LOC130063422, LOC130063423, LOC130063424, LOC130063425, LOC130063426, LOC130063427, LOC130063428, LOC130063429, LOC130063430, LOC130063431, LOC130063432, LOC130063433, LOC130063434, LOC130063435, LOC130063436, LOC130063437, LOC130063438, LOC130063439, LOC130063440, LOC130063441, LOC130063442, LOC130063443, LOC130063444, LOC130063445, LOC130063446, LOC130063447, LOC130063448, LOC130063449, LOC130063450, LOC130063451, LOC130063452, LOC130063453, LOC130063454, LOC132090552, LOC132090553, LOC132090555, LOC132090556, LOC132090903, LOC390877, LONP1, LRG1, LRRC8E, LSM7, MAP2K2, MAP2K7, MARCHF2, MATK, MBD3L1, MBD3L2, MBD3L2B, MBD3L3, MBD3L4, MBD3L5, MCEMP1, MCOLN1, MFSD12, MICOS13, MIR1227, MIR3940, MIR4321, MIR4746, MIR4747, MIR4999, MIR637, MIR6789, MIR6790, MIR6791, MIR6792, MIR6885, MIR7-3, MIR7-3HG, MIR7108, MIR7850, MKNK2, MLLT1, MOB3A, MPND, MRPL54, MUC16, MYDGF, MYO1F, NCLN, NDUFA11, NDUFA7, NFIC, NFILZ, NMRK2, NRTN, OAZ1, OR1M1, OR2Z1, OR7D2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, PCP2, PEAK3, PET100, PEX11G, PIAS4, PIP5K1C, PLEKHJ1, PLIN3, PLIN4, PLIN5, PNPLA6, PRAM1, PRR22, PRR36, PSPN, PTPRS, PTPRS-AS1, RAB11B, RAB11B-AS1, RANBP3, RANBP3-DT, RAX2, RETN, RFX2, RPL36, RPS28, S1PR4, SAFB, SAFB2, SAXO5, SEMA6B, SF3A2, SGTA, SH2D3A, SH3GL1, SHD, SIRT6, SLC25A23, SLC25A41, SLC39A3, SMIM24, SMIM44, SNAPC2, SNORD37, SPPL2B, STAP2, STXBP2, TBXA2R, TEKTIP1, TGFBR3L, THOP1, TICAM1, TIMM13, TIMM44, TINCR, TJP3, TLE2, TLE5, TLE6, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNFSF9, TRAPPC5, TRG-TCC1-1, TRIP10, TRV-CAC3-1, TUBB4A, UBXN6, UHRF1, VAV1, VMAC, XAB2, YJU2, ZBTB7A, ZFR2, ZNF121, ZNF177, ZNF266, ZNF317, ZNF358, ZNF414, ZNF426, ZNF426-DT, ZNF554, ZNF555, ZNF556, ZNF557, ZNF558, ZNF559, ZNF559-ZNF177, ZNF560, ZNF561, ZNF561-AS1, ZNF562, ZNF57, ZNF699, ZNF77, ZNRF4, ACER1, ACSBG2, ACTL9, ADAMTS10, ADGRE1, ALKBH7, AMH, ANGPTL4, ANKRD24, AP3D1, APBA3, ARHGEF18, ARHGEF18-AS1, ARRDC5, ATCAY, BTBD2, C3, CACTIN, CACTIN-AS1, CAMSAP3, CAPS, CATSPERD, CCL25, CD209, CD320, CD70, CELF5, CERS4, CHAF1A, CLEC4G, CLEC4M, CLPP, CRB3, CREB3L3, CSNK1G2, CTXN1, DAPK3, DENND1C, DIRAS1, DOHH, DOT1L, DPP9, DPP9-AS1, DUS3L, EBI3, EEF2, ELAVL1, EVI5L, FBN3, FCER2, FEM1A, FSD1, FUT3, FUT5, FUT6, FZR1, GADD45B, GIPC3, GNA11, GNA15, GNA15-DT, GNG7, GPR108, GTF2F1, HDGFL2, HMG20B, HNRNPM, HSD11B1L, INSR, IZUMO4, JSRP1, KANK3, KDM4B, KHSRP, LINC01775, LINGO3, LMNB2, LOC101928844, LOC105372244, LOC105372253, LOC105372255, LOC106804547, LOC108348031, LOC108783649, LOC111413022, LOC111556134, LOC111721712, LOC111828491, LOC111828495, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC112552148, LOC112552174, LOC112552175, LOC112552176, LOC112577455, LOC112577456, LOC112577457, LOC112577458, LOC113939970, LOC113939971, LOC113939974, LOC116276497, LOC116276498, LOC116276499, LOC116276500, LOC117282006, LOC117307477, LOC117307478, LOC121627846, LOC121627847, LOC121627848, LOC121627849, LOC121627850, LOC121627851, LOC121627852, LOC121627853, LOC121627854, LOC121627855, LOC121852972, LOC121852973, LOC121852974, LOC121852975, LOC121852976, LOC125371450, LOC125371451, LOC125371452, LOC125371453, LOC125371455, LOC125371457, LOC125371459, LOC125371460, LOC125371461, LOC125371462, LOC125371463, LOC125371464, LOC125371465, LOC125371466, LOC125371467, LOC125371468, LOC125371469, LOC125371470, LOC125371471, LOC125371472, LOC125371473, LOC126862839, LOC126862840, LOC126862841, LOC126862842, LOC126862843, LOC126862844, LOC126862845, LOC126862846, LOC126862847, LOC126862848, LOC126862849, LOC126862850, LOC128772422, LOC128772423, LOC128772424, LOC129391022, LOC129391023, LOC129391024, LOC129391025, LOC129391026, LOC129391027, LOC129391028, LOC129391029, LOC129391030, LOC129391031, LOC129391032, LOC129391033, LOC129391034, LOC129391035, LOC129391036, LOC129391037, LOC129391038, LOC129391039, LOC129391040, LOC129391041, LOC129391042, LOC129391043, LOC129391044, LOC129391045, LOC129391046, LOC129391047, LOC129391048, LOC129391049, LOC129391050, LOC129391051, LOC129391052, LOC129391053, LOC129391054, LOC129391055, LOC129391056, LOC129391057, LOC129929036, LOC130063009, LOC130063010, LOC130063011, LOC130063012, LOC130063013, LOC130063014, LOC130063015, LOC130063016, LOC130063017, LOC130063018, LOC130063019, LOC130063020, LOC130063021, LOC130063022, LOC130063023, LOC130063024, LOC130063025, LOC130063026, LOC130063027, LOC130063028, LOC130063029, LOC130063030, LOC130063031, LOC130063032, LOC130063033, LOC130063034, LOC130063035, LOC130063036, LOC130063037, LOC130063038, LOC130063039, LOC130063040, LOC130063041, LOC130063042, LOC130063043, LOC130063044, LOC130063045, LOC130063046, LOC130063047, LOC130063048, LOC130063049, LOC130063050, LOC130063051, LOC130063052, LOC130063053, LOC130063054, LOC130063055, LOC130063056, LOC130063057, LOC130063058, LOC130063059, LOC130063060, LOC130063061, LOC130063062, LOC130063063, LOC130063064, LOC130063065, LOC130063066, LOC130063067, LOC130063068, LOC130063069, LOC130063070, LOC130063071, LOC130063072, LOC130063073, LOC130063074, LOC130063075, LOC130063076, LOC130063077, LOC130063078, LOC130063079, LOC130063080, LOC130063081, LOC130063082, LOC130063083, LOC130063084, LOC130063085, LOC130063086, LOC130063087, LOC130063088, LOC130063089, LOC130063090, LOC130063091, LOC130063092, LOC130063093, LOC130063094, LOC130063095, LOC130063096, LOC130063097, LOC130063098, LOC130063099, LOC130063100, LOC130063101, LOC130063102, LOC130063103, LOC130063104, LOC130063105, LOC130063106, LOC130063107, LOC130063108, LOC130063109, LOC130063110, LOC130063111, LOC130063112, LOC130063113, LOC130063114, LOC130063115, LOC130063116, LOC130063117, LOC130063118, LOC130063119, LOC130063120, LOC130063121, LOC130063122, LOC130063123, LOC130063124, LOC130063125, LOC130063126, LOC130063127, LOC130063128, LOC130063129, LOC130063130, LOC130063131, LOC130063132, LOC130063133, LOC130063134, LOC130063135, LOC130063136, LOC130063137, LOC130063138, LOC130063139, LOC130063140, LOC130063141, LOC130063142, LOC130063143, LOC130063144, LOC130063145, LOC130063146, LOC130063147, LOC130063148, LOC130063149, LOC130063150, LOC130063151, LOC130063152, LOC130063153, LOC130063154, LOC130063155, LOC130063156, LOC130063157, LOC130063158, LOC130063159, LOC130063160, LOC130063161, LOC130063162, LOC130063163, LOC130063164, LOC130063165, LOC130063166, LOC130063167, LOC130063168, LOC130063169, LOC130063170, LOC130063171, LOC130063172, LOC130063173, LOC130063174, LOC130063175, LOC130063176, LOC130063177, LOC130063178, LOC130063179, LOC130063180, LOC130063181, LOC130063182, LOC130063183, LOC130063184, LOC130063185, LOC130063186, LOC130063187, LOC130063188, LOC130063189, LOC130063190, LOC130063191, LOC130063192, LOC130063193, LOC130063194, LOC130063195, LOC130063196, LOC130063197, LOC130063198, LOC130063199, LOC130063200, LOC130063201, LOC130063202, LOC130063203, LOC130063204, LOC130063205, LOC130063206, LOC130063207, LOC130063208, LOC130063209, LOC130063210, LOC130063211, LOC130063212, LOC130063213, LOC130063214, LOC130063215, LOC130063216, LOC130063217, LOC130063218, LOC130063219, LOC130063220, LOC130063221, LOC130063222, LOC130063223, LOC130063224, LOC130063225, LOC130063226, LOC130063227, LOC130063228, LOC130063229, LOC130063230, LOC130063231, LOC130063232, LOC130063233, LOC130063234, LOC130063235, LOC130063236, LOC130063237, LOC130063238, LOC130063239, LOC130063240, LOC130063241, LOC130063242, LOC130063243, LOC130063244, LOC130063245 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:2926236-4051633
- GRCh38:
- Chr19:2926238-4051635
| APBA3, ATCAY, CACTIN, CACTIN-AS1, CELF5, DAPK3, DOHH, EEF2, FZR1, GIPC3, GNA11, GNA15, GNA15-DT, HMG20B, LOC105372244, LOC111721712, LOC112543480, LOC112543481, LOC112543482, LOC113939970, LOC121627848, LOC121852972, LOC121852973, LOC125371450, LOC125371451, LOC125371452, LOC125371453, LOC128772422, LOC128772423, LOC128772424, LOC129391026, LOC129391027, LOC129391028, LOC129391029, LOC129391030, LOC129391031, LOC129391032, LOC129391033, 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, MATK, MFSD12, MIR637, MRPL54, NCLN, NFIC, NMRK2, PIAS4, PIP5K1C, RAX2, S1PR4, SMIM24, SMIM44, SNORD37, TBXA2R, TEKTIP1, TJP3, TLE2, TLE5, TLE6, ZBTB7A, ZFR2, ZNF77 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:3080619-4912634
- GRCh38:
- Chr19:3080621-4912622
| ANKRD24, APBA3, ARRDC5, ATCAY, CACTIN, CACTIN-AS1, CELF5, CHAF1A, CREB3L3, DAPK3, DOHH, DPP9, DPP9-AS1, EBI3, EEF2, FEM1A, FSD1, FZR1, GIPC3, GNA11, GNA15, GNA15-DT, HDGFL2, HMG20B, LOC105372244, LOC111721712, LOC111828491, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC112552148, LOC113939970, LOC113939971, LOC116276499, LOC121627849, LOC121627850, LOC121627851, LOC121852972, LOC121852973, LOC121852974, LOC125371450, LOC125371451, LOC125371452, LOC125371453, LOC125371455, LOC125371457, LOC126862840, LOC126862841, LOC126862842, LOC126862843, LOC128772422, LOC128772423, LOC128772424, LOC129391026, LOC129391027, LOC129391028, LOC129391029, LOC129391030, LOC129391031, LOC129391032, LOC129391033, LOC129391034, LOC129391035, LOC129391036, LOC129391037, LOC129391038, LOC129391039, LOC130063121, LOC130063122, LOC130063123, LOC130063124, LOC130063125, LOC130063126, LOC130063127, LOC130063128, LOC130063129, LOC130063130, LOC130063131, LOC130063132, LOC130063133, LOC130063134, LOC130063135, LOC130063136, LOC130063137, LOC130063138, LOC130063139, LOC130063140, LOC130063141, LOC130063142, LOC130063143, LOC130063144, LOC130063145, LOC130063146, LOC130063147, LOC130063148, LOC130063149, LOC130063150, LOC130063151, LOC130063152, LOC130063153, LOC130063154, LOC130063155, LOC130063156, LOC130063157, LOC130063158, LOC130063159, LOC130063160, LOC130063161, LOC130063162, LOC130063163, LOC130063164, LOC130063165, LOC130063166, LOC130063167, LOC130063168, LOC130063169, LOC130063170, LOC130063171, LOC130063172, LOC130063173, LOC130063174, LOC130063175, LOC130063176, LOC130063177, LOC130063178, LOC130063179, LOC130063180, LOC130063181, LOC130063182, LOC130063183, LOC130063184, LOC130063185, LOC130063186, LOC130063187, LOC130063188, LOC130063189, LOC130063190, LOC130063191, LOC130063192, LOC130063193, LOC130063194, LOC130063195, LOC130063196, LOC130063197, LOC130063198, LOC130063199, LOC130063200, LOC130063201, LOC130063202, LOC130063203, LOC130063204, LOC130063205, LOC130063206, LOC130063207, LOC130063208, LOC130063209, LOC130063210, LOC130063211, LOC130063212, LOC130063213, LOC130063214, LOC130063215, LOC130063216, LOC130063217, LOC130063218, LOC130063219, LOC130063220, LOC130063221, LOC130063222, LOC130063223, LOC130063224, LOC130063225, LOC130063226, LOC130063227, LOC130063228, LOC130063229, LOC130063230, LOC130063231, LOC130063232, LOC130063233, LOC130063234, LOC130063235, LRG1, MAP2K2, MATK, MFSD12, MIR4746, MIR637, MIR7-3, MIR7-3HG, MPND, MRPL54, MYDGF, NCLN, NFIC, NMRK2, PIAS4, PIP5K1C, PLIN3, PLIN4, PLIN5, RAX2, S1PR4, SEMA6B, SH3GL1, SHD, SIRT6, SMIM24, SMIM44, SNORD37, STAP2, TBXA2R, TEKTIP1, TICAM1, TJP3, TMIGD2, TNFAIP8L1, TRG-TCC1-1, TRV-CAC3-1, UBXN6, UHRF1, YJU2, ZBTB7A, ZFR2 | | See cases | Likely pathogenic (Dec 16, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr19:3338022-4833151
- GRCh38:
- Chr19:3338024-4833139
| LOC121852974, LOC125371451, LOC125371452, LOC125371453, LOC125371455, LOC125371457, LOC126862840, LOC126862841, LOC126862842, LOC126862843, LOC128772422, LOC128772423, LOC128772424, LOC129391027, LOC129391028, LOC129391029, LOC129391030, LOC129391031, LOC129391032, LOC129391033, LOC129391034, LOC129391035, LOC129391036, LOC129391037, LOC129391038, LOC129391039, LOC130063132, LOC130063133, LOC130063134, LOC130063135, LOC130063136, LOC130063137, LOC130063138, LOC130063139, LOC130063140, LOC130063141, LOC130063142, LOC130063143, LOC130063144, LOC130063145, LOC130063146, LOC130063147, LOC130063148, LOC130063149, LOC130063150, LOC130063151, LOC130063152, LOC130063153, LOC130063154, LOC130063155, LOC130063156, LOC130063157, LOC130063158, LOC130063159, LOC130063160, LOC130063161, LOC130063162, LOC130063163, LOC130063164, LOC130063165, LOC130063166, LOC130063167, LOC130063168, LOC130063169, LOC130063170, LOC130063171, LOC130063172, LOC130063173, LOC130063174, LOC130063175, LOC130063176, LOC130063177, LOC130063178, LOC130063179, LOC130063180, LOC130063181, LOC130063182, LOC130063183, LOC130063184, LOC130063185, LOC130063186, LOC130063187, LOC130063188, LOC130063189, LOC130063190, LOC130063191, LOC130063192, LOC130063193, LOC130063194, LOC130063195, LOC130063196, LOC130063197, LOC130063198, LOC130063199, LOC130063200, LOC130063201, LOC130063202, LOC130063203, LOC130063204, LOC130063205, LOC130063206, LOC130063207, LOC130063208, LOC130063209, LOC130063210, LOC130063211, LOC130063212, LOC130063213, LOC130063214, LOC130063215, LOC130063216, LOC130063217, LOC130063218, LOC130063219, LOC130063220, LOC130063221, LOC130063222, LOC130063223, LOC130063224, LOC130063225, LOC130063226, LOC130063227, LOC130063228, LOC130063229, LOC130063230, LRG1, MAP2K2, MATK, MFSD12, MIR4746, MIR637, MIR7-3, MIR7-3HG, MPND, MRPL54, MYDGF, NFIC, NMRK2, PIAS4, PIP5K1C, PLIN4, PLIN5, RAX2, SEMA6B, SH3GL1, SHD, SIRT6, SMIM24, SMIM44, SNORD37, STAP2, TBXA2R, TEKTIP1, TICAM1, TJP3, TMIGD2, TNFAIP8L1, TRG-TCC1-1, TRV-CAC3-1, UBXN6, YJU2, ZBTB7A, ZFR2, ANKRD24, APBA3, ATCAY, CACTIN, CACTIN-AS1, CHAF1A, CREB3L3, DAPK3, DOHH, DPP9, DPP9-AS1, EBI3, EEF2, FEM1A, FSD1, FZR1, GIPC3, HDGFL2, HMG20B, LOC111721712, LOC111828491, LOC112543481, LOC112543482, LOC112543490, LOC112552148, LOC113939970, LOC113939971, LOC121627849, LOC121627850, LOC121627851, LOC121852972, LOC121852973 | | See cases | Pathogenic (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:3554633-4690977
- GRCh38:
- Chr19:3554635-4690965
| ZFR2, ANKRD24, APBA3, ATCAY, CACTIN, CACTIN-AS1, CHAF1A, CREB3L3, DAPK3, DPP9, DPP9-AS1, EBI3, EEF2, FSD1, GIPC3, HDGFL2, HMG20B, LOC111828491, LOC112543481, LOC112543482, LOC112543490, LOC113939970, LOC121627849, LOC121627850, LOC121627851, LOC121852972, LOC121852973, LOC121852974, LOC125371453, LOC125371455, LOC125371457, LOC129391029, LOC129391030, LOC129391031, LOC129391032, LOC129391033, LOC129391034, LOC129391035, LOC129391036, LOC129391037, LOC129391038, 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, LRG1, MAP2K2, MATK, MFSD12, MIR4746, MIR637, MPND, MRPL54, MYDGF, NMRK2, PIAS4, PIP5K1C, PLIN4, PLIN5, RAX2, SEMA6B, SH3GL1, SHD, SIRT6, SNORD37, STAP2, TBXA2R, TJP3, TMIGD2, TNFAIP8L1, UBXN6, YJU2, ZBTB7A | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:3788725-5147365
- GRCh38:
- Chr19:3788727-5147354
| ANKRD24, ARRDC5, ATCAY, CHAF1A, CREB3L3, DAPK3, DPP9, DPP9-AS1, EBI3, EEF2, FEM1A, FSD1, HDGFL2, KDM4B, LOC111828491, LOC112543490, LOC112552148, LOC113939970, LOC113939971, LOC116276499, LOC121627849, LOC121627850, LOC121627851, LOC121627852, LOC121852974, LOC125371453, LOC125371455, LOC125371457, LOC125371459, LOC125371460, LOC126862840, LOC126862841, LOC126862842, LOC126862843, LOC129391032, LOC129391033, LOC129391034, LOC129391035, LOC129391036, LOC129391037, LOC129391038, LOC129391039, 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, LRG1, MAP2K2, MATK, MIR4746, MIR4747, MIR637, MIR7-3, MIR7-3HG, MPND, MYDGF, NMRK2, PIAS4, PLIN3, PLIN4, PLIN5, SEMA6B, SH3GL1, SHD, SIRT6, SNORD37, STAP2, TICAM1, TMIGD2, TNFAIP8L1, TRG-TCC1-1, TRV-CAC3-1, UBXN6, UHRF1, YJU2, ZBTB7A, ZFR2 | | See cases | Likely pathogenic (Sep 23, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr19:3947932-5196687
- GRCh38:
- Chr19:3947934-5196676
| ANKRD24, ARRDC5, CHAF1A, CREB3L3, DAPK3, DPP9, DPP9-AS1, EBI3, EEF2, FEM1A, FSD1, HDGFL2, KDM4B, LOC111828491, LOC112543490, LOC112552148, LOC113939971, LOC116276499, LOC121627849, LOC121627850, LOC121627851, LOC121627852, LOC121852974, LOC125371455, LOC125371457, LOC125371459, LOC125371460, LOC126862840, LOC126862841, LOC126862842, LOC126862843, LOC126862844, LOC129391034, LOC129391035, LOC129391036, LOC129391037, LOC129391038, LOC129391039, 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, LRG1, MAP2K2, MIR4746, MIR4747, MIR637, MIR7-3, MIR7-3HG, MPND, MYDGF, PIAS4, PLIN3, PLIN4, PLIN5, PTPRS-AS1, SEMA6B, SH3GL1, SHD, SIRT6, SNORD37, STAP2, TICAM1, TMIGD2, TNFAIP8L1, TRG-TCC1-1, TRV-CAC3-1, UBXN6, UHRF1, YJU2, ZBTB7A | | See cases | Uncertain significance (Aug 19, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:4008558-4763171
- GRCh38:
- Chr19:4008560-4763159
| ANKRD24, CHAF1A, CREB3L3, DPP9, DPP9-AS1, EBI3, FSD1, HDGFL2, LOC111828491, LOC112543490, LOC112552148, LOC121627849, LOC121627850, LOC121627851, LOC121852974, LOC125371455, LOC125371457, LOC126862840, LOC126862841, LOC126862842, LOC129391034, LOC129391035, LOC129391036, LOC129391037, LOC129391038, 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, LRG1, MAP2K2, MIR4746, MPND, MYDGF, PIAS4, PLIN4, PLIN5, SEMA6B, SH3GL1, SHD, SIRT6, STAP2, TMIGD2, TNFAIP8L1, TRG-TCC1-1, TRV-CAC3-1, UBXN6, YJU2, ZBTB7A | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4047799
- GRCh38:
- Chr19:4047801
| ZBTB7A | G569V | Inborn genetic diseases | Uncertain significance (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4047842
- GRCh38:
- Chr19:4047844
| ZBTB7A | R555W | Inborn genetic diseases | Uncertain significance (Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4047857
- GRCh38:
- Chr19:4047859
| ZBTB7A | P550S | not provided | Uncertain significance (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4047894
- GRCh38:
- Chr19:4047896
| ZBTB7A | H537Q | Inborn genetic diseases | Uncertain significance (Apr 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4047917
- GRCh38:
- Chr19:4047919
| ZBTB7A | R530fs | Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | Pathogenic (Feb 28, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr19:4047921-4047954
- GRCh38:
- Chr19:4047923-4047956
| ZBTB7A | P521fs | not provided | Uncertain significance (May 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4047950
- GRCh38:
- Chr19:4047952
| ZBTB7A | G519S | not provided, Inborn genetic diseases | Uncertain significance (Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4047969
- GRCh38:
- Chr19:4047971
| ZBTB7A | | not provided | Benign (May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4047974
- GRCh38:
- Chr19:4047976
| ZBTB7A | S511R | Inborn genetic diseases | Uncertain significance (Jul 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4047979
- GRCh38:
- Chr19:4047981
| ZBTB7A | D509A | Inborn genetic diseases | Uncertain significance (Jul 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4047980
- GRCh38:
- Chr19:4047982
| ZBTB7A | D509N | Inborn genetic diseases | Uncertain significance (Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4047997
- GRCh38:
- Chr19:4047999
| ZBTB7A | V503G | Inborn genetic diseases | Uncertain significance (Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4048009-4048039
- GRCh38:
- Chr19:4048011-4048041
| ZBTB7A | G489fs | Neurodevelopmental delay | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr19:4048151
- GRCh38:
- Chr19:4048153
| ZBTB7A | D452N | not provided | Pathogenic (Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4048180
- GRCh38:
- Chr19:4048182
| ZBTB7A | Q442R | Inborn genetic diseases | Uncertain significance (Jan 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4048217
- GRCh38:
- Chr19:4048219
| ZBTB7A | R430fs | ZBTB7A-related condition | Uncertain significance (Feb 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4053974
- GRCh38:
- Chr19:4053976
| ZBTB7A | | not provided | Likely benign (Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4053982
- GRCh38:
- Chr19:4053984
| ZBTB7A | V417F | not provided | Uncertain significance (Mar 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054048
- GRCh38:
- Chr19:4054050
| ZBTB7A | G395R | not provided | Uncertain significance (Oct 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054079
- GRCh38:
- Chr19:4054081
| ZBTB7A | C384W | Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | Pathogenic (Feb 28, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr19:4054123
- GRCh38:
- Chr19:4054125
| ZBTB7A | Q370* | Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | Pathogenic (Feb 28, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr19:4054291
- GRCh38:
- Chr19:4054293
| ZBTB7A | L314M | Inborn genetic diseases | Uncertain significance (Nov 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054312
- GRCh38:
- Chr19:4054314
| ZBTB7A | D307Y | Inborn genetic diseases | Uncertain significance (Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054336
- GRCh38:
- Chr19:4054338
| ZBTB7A | G299R | Inborn genetic diseases | Uncertain significance (May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054381
- GRCh38:
- Chr19:4054383
| ZBTB7A | S284A | Inborn genetic diseases | Uncertain significance (Jul 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054387
- GRCh38:
- Chr19:4054389
| ZBTB7A | S282A | Inborn genetic diseases | Uncertain significance (Oct 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054423
- GRCh38:
- Chr19:4054425
| ZBTB7A | G270S | not provided | Uncertain significance (May 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054510
- GRCh38:
- Chr19:4054512
| ZBTB7A | P241S | Inborn genetic diseases | Uncertain significance (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054539
- GRCh38:
- Chr19:4054541
| ZBTB7A | T231fs | not provided | Uncertain significance (Jan 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054539
- GRCh38:
- Chr19:4054541
| ZBTB7A | T231M | Inborn genetic diseases | Uncertain significance (Jun 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054540
- GRCh38:
- Chr19:4054542
| ZBTB7A | T231P | Inborn genetic diseases | Uncertain significance (Aug 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054588-4054589
- GRCh38:
- Chr19:4054590-4054591
| ZBTB7A | N215fs | Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | Pathogenic (Jun 17, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr19:4054708-4054709
- GRCh38:
- Chr19:4054710-4054711
| ZBTB7A | A175fs | Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | Likely pathogenic (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054732
- GRCh38:
- Chr19:4054734
| ZBTB7A | N167D | not provided | Uncertain significance (Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054733
- GRCh38:
- Chr19:4054735
| ZBTB7A | S166R | Inborn genetic diseases | Uncertain significance (May 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054810
- GRCh38:
- Chr19:4054812
| ZBTB7A | G141R | Inborn genetic diseases | Likely benign (Dec 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054825
- GRCh38:
- Chr19:4054827
| ZBTB7A | A136P | Inborn genetic diseases | Likely benign (Apr 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054841
- GRCh38:
- Chr19:4054843
| ZBTB7A | Q130H | Inborn genetic diseases | Uncertain significance (May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054858
- GRCh38:
- Chr19:4054860
| ZBTB7A | D125N | not provided | Uncertain significance (Oct 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054893
- GRCh38:
- Chr19:4054895
| ZBTB7A | L113Q | not provided | Uncertain significance (Nov 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054932
- GRCh38:
- Chr19:4054934
| ZBTB7A | S100N | not provided | Uncertain significance (Mar 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4054950-4054958
- GRCh38:
- Chr19:4054952-4054960
| ZBTB7A | F91fs | not provided | Uncertain significance (Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4055063-4055064
- GRCh38:
- Chr19:4055065-4055066
| ZBTB7A | S56I | Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | Pathogenic (Feb 28, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr19:4055205
- GRCh38:
- Chr19:4055207
| ZBTB7A | I9S | ZBTB7A-related condition | Uncertain significance (Jul 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:589946-5696788
| ABCA7, ABHD17A, ADAMTSL5, ADAT3, AMH, ANKRD24, AP3D1, APBA3, APC2, ARHGAP45, ARID3A, ARRDC5, ATCAY, ATP5F1D, ATP8B3, AZU1, BTBD2, C19orf25, CACTIN, CBARP, CELF5, CFD, CHAF1A, CIRBP, CNN2, CREB3L3, CSNK1G2, DAPK3, DAZAP1, DIRAS1, DOHH, DOT1L, DPP9, EBI3, EEF2, EFNA2, ELANE, FAM174C, FEM1A, FGF22, FSD1, FSTL3, FZR1, GADD45B, GAMT, GIPC3, GNA11, GNA15, GNG7, GPX4, GRIN3B, HCN2, HMG20B, HSD11B1L, IZUMO4, JSRP1, KDM4B, KISS1R, KLF16, LINGO3, LMNB2, LONP1, LRG1, LSM7, MAP2K2, MATK, MBD3, MED16, MEX3D, MFSD12, MICOS13, MIDN, MIR1909, MISP, MKNK2, MOB3A, MPND, MRPL54, MYDGF, NCLN, NDUFS7, NFIC, NMRK2, OAZ1, ONECUT3, PALM, PCSK4, PEAK3, PIAS4, PIP5K1C, PLEKHJ1, PLIN3, PLIN4, PLIN5, PLK5, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PTPRS, PWWP3A, R3HDM4, RAX2, REEP6, REXO1, RNF126, RPL36, RPS15, S1PR4, SAFB, SAFB2, SBNO2, SCAMP4, SEMA6B, SF3A2, SGTA, SH3GL1, SHD, SIRT6, SLC39A3, SMIM24, SPPL2B, STAP2, STK11, TBXA2R, TCF3, TEKTIP1, THOP1, TICAM1, TIMM13, TINCR, TJP3, TLE2, TLE5, TLE6, TMEM259, TMIGD2, TMPRSS9, TNFAIP8L1, UBXN6, UHRF1, UQCR11, WDR18, YJU2, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF77, ZNRF4 | | not provided | Uncertain significance (Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:589946-4818389
| ABCA7, ABHD17A, ADAMTSL5, ADAT3, AMH, ANKRD24, AP3D1, APBA3, APC2, ARHGAP45, ARID3A, ATCAY, ATP5F1D, ATP8B3, AZU1, BTBD2, C19orf25, CACTIN, CBARP, CELF5, CFD, CHAF1A, CIRBP, CNN2, CREB3L3, CSNK1G2, DAPK3, DAZAP1, DIRAS1, DOHH, DOT1L, DPP9, EBI3, EEF2, EFNA2, ELANE, FAM174C, FEM1A, FGF22, FSD1, FSTL3, FZR1, GADD45B, GAMT, GIPC3, GNA11, GNA15, GNG7, GPX4, GRIN3B, HCN2, HMG20B, IZUMO4, JSRP1, KISS1R, KLF16, LINGO3, LMNB2, LRG1, LSM7, MAP2K2, MATK, MBD3, MED16, MEX3D, MFSD12, MIDN, MIR1909, MISP, MKNK2, MOB3A, MPND, MRPL54, MYDGF, NCLN, NDUFS7, NFIC, NMRK2, OAZ1, ONECUT3, PALM, PCSK4, PEAK3, PIAS4, PIP5K1C, PLEKHJ1, PLIN4, PLIN5, PLK5, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, RAX2, REEP6, REXO1, RNF126, RPS15, S1PR4, SBNO2, SCAMP4, SEMA6B, SF3A2, SGTA, SH3GL1, SHD, SIRT6, SLC39A3, SMIM24, SPPL2B, STAP2, STK11, TBXA2R, TCF3, TEKTIP1, THOP1, TICAM1, TIMM13, TJP3, TLE2, TLE5, TLE6, TMEM259, TMIGD2, TMPRSS9, TNFAIP8L1, UBXN6, UQCR11, WDR18, YJU2, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF77 | | not provided | Uncertain significance (Jul 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:3501624-5357124
| ANKRD24, APBA3, ARRDC5, ATCAY, CACTIN, CHAF1A, CREB3L3, DAPK3, DPP9, EBI3, EEF2, FEM1A, FSD1, FZR1, GIPC3, HMG20B, KDM4B, LRG1, MAP2K2, MATK, MFSD12, MPND, MRPL54, MYDGF, NMRK2, PIAS4, PIP5K1C, PLIN3, PLIN4, PLIN5, PTPRS, RAX2, SEMA6B, SH3GL1, SHD, SIRT6, STAP2, TBXA2R, TEKTIP1, TICAM1, TJP3, TMIGD2, TNFAIP8L1, UBXN6, UHRF1, YJU2, ZBTB7A, ZFR2 | | not provided | Pathogenic (Jan 20, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr19:3788725-4225547
| ANKRD24, ATCAY, CREB3L3, DAPK3, EEF2, MAP2K2, MATK, NMRK2, PIAS4, SIRT6, ZBTB7A, ZFR2 | | not provided | Uncertain significance (Jan 18, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr19:3976203-4345430
| TMIGD2, YJU2, ZBTB7A, ANKRD24, CREB3L3, EBI3, EEF2, FSD1, MAP2K2, MPND, PIAS4, SHD, SIRT6, STAP2 | | Obesity, Global developmental delay | Pathogenic (Mar 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:260912-4384674
| ABCA7, ABHD17A, ADAMTSL5, ADAT3, AMH, ANKRD24, AP3D1, APBA3, APC2, ARHGAP45, ARID3A, ATCAY, ATP5F1D, ATP8B3, AZU1, BSG, BTBD2, C19orf25, C2CD4C, CACTIN, CBARP, CDC34, CELF5, CFD, CIRBP, CNN2, CREB3L3, CSNK1G2, DAPK3, DAZAP1, DIRAS1, DOHH, DOT1L, EBI3, EEF2, EFNA2, ELANE, FAM174C, FGF22, FSD1, FSTL3, FZR1, GADD45B, GAMT, GIPC3, GNA11, GNA15, GNG7, GPX4, GRIN3B, GZMM, HCN2, HMG20B, IZUMO4, JSRP1, KISS1R, KLF16, LINGO3, LMNB2, LSM7, MADCAM1, MAP2K2, MATK, MBD3, MED16, MEX3D, MFSD12, MIDN, MIER2, MIR1909, MISP, MKNK2, MOB3A, MPND, MRPL54, NCLN, NDUFS7, NFIC, NMRK2, OAZ1, ODF3L2, ONECUT3, PALM, PCSK4, PEAK3, PIAS4, PIP5K1C, PLEKHJ1, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, RAX2, REEP6, REXO1, RNF126, RPS15, S1PR4, SBNO2, SCAMP4, SF3A2, SGTA, SH3GL1, SHC2, SHD, SIRT6, SLC39A3, SMIM24, SPPL2B, STAP2, STK11, TBXA2R, TCF3, TEKTIP1, THEG, THOP1, TIMM13, TJP3, TLE2, TLE5, TLE6, TMEM259, TMIGD2, TMPRSS9, TPGS1, UQCR11, WDR18, YJU2, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF77 | | See cases | Pathogenic (Jun 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:260911-4788357
| ABCA7, ABHD17A, ADAMTSL5, ADAT3, AMH, ANKRD24, AP3D1, APBA3, APC2, ARHGAP45, ARID3A, ATCAY, ATP5F1D, ATP8B3, AZU1, BSG, BTBD2, C19orf25, C2CD4C, CACTIN, CBARP, CDC34, CELF5, CFD, CHAF1A, CIRBP, CNN2, CREB3L3, CSNK1G2, DAPK3, DAZAP1, DIRAS1, DOHH, DOT1L, DPP9, EBI3, EEF2, EFNA2, ELANE, FAM174C, FGF22, FSD1, FSTL3, FZR1, GADD45B, GAMT, GIPC3, GNA11, GNA15, GNG7, GPX4, GRIN3B, GZMM, HCN2, HMG20B, IZUMO4, JSRP1, KISS1R, KLF16, LINGO3, LMNB2, LRG1, LSM7, MADCAM1, MAP2K2, MATK, MBD3, MED16, MEX3D, MFSD12, MIDN, MIER2, MIR1909, MISP, MKNK2, MOB3A, MPND, MRPL54, MYDGF, NCLN, NDUFS7, NFIC, NMRK2, OAZ1, ODF3L2, ONECUT3, PALM, PCSK4, PEAK3, PIAS4, PIP5K1C, PLEKHJ1, PLIN4, PLIN5, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, RAX2, REEP6, REXO1, RNF126, RPS15, S1PR4, SBNO2, SCAMP4, SEMA6B, SF3A2, SGTA, SH3GL1, SHC2, SHD, SIRT6, SLC39A3, SMIM24, SPPL2B, STAP2, STK11, TBXA2R, TCF3, TEKTIP1, THEG, THOP1, TIMM13, TJP3, TLE2, TLE5, TLE6, TMEM259, TMIGD2, TMPRSS9, TNFAIP8L1, TPGS1, UBXN6, UQCR11, WDR18, YJU2, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF77 | | not provided | Pathogenic (May 21, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr19:3076808-4796782
| ANKRD24, APBA3, ATCAY, CACTIN, CELF5, CHAF1A, CREB3L3, DAPK3, DOHH, DPP9, EBI3, EEF2, FEM1A, FSD1, FZR1, GIPC3, GNA11, GNA15, HMG20B, LRG1, MAP2K2, MATK, MFSD12, MPND, MRPL54, MYDGF, NCLN, NFIC, NMRK2, PIAS4, PIP5K1C, PLIN4, PLIN5, RAX2, S1PR4, SEMA6B, SH3GL1, SHD, SIRT6, SMIM24, STAP2, TBXA2R, TEKTIP1, TJP3, TMIGD2, TNFAIP8L1, UBXN6, YJU2, ZBTB7A, ZFR2 | | not provided | Pathogenic (Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4065951-4067608
| ZBTB7A | | not provided | Benign (Dec 1, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr19:4065951-4067378
| ZBTB7A | | not provided | Benign (Dec 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:4065951-4067378
| ZBTB7A | | not provided | Benign (Dec 14, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr19:260912-59097160
| ZNF426, ZNF428, ZNF429, ZNF43, ZNF430, ZNF431, ZNF432, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF444, ZNF446, ZNF45, ZNF460, ZNF461, ZNF468, ZNF470, ZNF471, ZNF473, ZNF480, ZNF486, ZNF490, ZNF491, ZNF492, ZNF493, ZNF497, ZNF506, ZNF507, ZNF524, ZNF526, ZNF527, ZNF528, ZNF529, ZNF530, ZNF534, ZNF536, ZNF540, ZNF541, ZNF543, ZNF544, ZNF546, ZNF547, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF554, ZNF555, ZNF556, ZNF557, ZNF558, ZNF559, ZNF559-ZNF177, ZNF560, ZNF561, ZNF562, ZNF563, ZNF564, ZNF565, ZNF566, ZNF567, ZNF568, ZNF569, ZNF570, ZNF571, ZNF573, ZNF574, ZNF575, ZNF576, ZNF577, ZNF578, ZNF579, ZNF580, ZNF581, ZNF582, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587, ZNF587B, ZNF599, ZNF600, ZNF606, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF627, ZNF628, ZNF649, ZNF653, ZNF665, ZNF667, ZNF671, ZNF675, ZNF676, ZNF677, ZNF681, ZNF682, ZNF69, ZNF699, ZNF700, ZNF701, ZNF708, ZNF709, ZNF71, ZNF714, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF749, ZNF761, ZNF763, ZNF765, ZNF766, ZNF77, ZNF772, ZNF773, ZNF776, ZNF780A, ZNF780B, ZNF781, ZNF784, ZNF787, ZNF790, ZNF791, ZNF792, ZNF793, ZNF799, ZNF8, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF823, ZNF829, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF844, ZNF845, ZNF846, ZNF85, ZNF850, ZNF865, ZNF875, ZNF878, ZNF880, ZNF888, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5B, ZSWIM4, ZSWIM9, A1BG, ABCA7, ABHD17A, ABHD8, ACER1, ACP4, ACP5, ACP7, ACSBG2, ACTL9, ACTMAP, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADGRE1, ADGRE2, ADGRE3, ADGRE5, ADGRL1, ADM5, AKAP8, AKAP8L, AKT1S1, AKT2, ALDH16A1, ALKBH6, ALKBH7, AMH, ANGPTL4, ANGPTL6, ANGPTL8, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP1M2, AP2A1, AP2S1, AP3D1, APBA3, APC2, APLP1, APOC1, APOC2, APOC4, APOE, ARHGAP33, ARHGAP35, ARHGAP45, ARHGEF1, ARHGEF18, ARID3A, ARMC6, ARRDC2, ARRDC5, ASF1B, ASPDH, ATCAY, ATF5, ATG4D, ATP13A1, ATP1A3, ATP4A, ATP5F1D, ATP8B3, AURKC, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BABAM1, BAX, BBC3, BCAM, BCAT2, BCKDHA, BCL2L12, BCL3, BEST2, BICRA, BLOC1S3, BLVRB, BORCS8, BRD4, BRME1, BRSK1, BSG, BSPH1, BST2, BTBD2, C19orf12, C19orf18, C19orf25, C19orf33, C19orf38, C19orf44, C19orf47, C19orf53, C19orf67, C19orf73, |