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Items: 1 to 100 of 319

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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
2.
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
3.
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 casesPathogenic
(Aug 30, 2010)
no assertion criteria provided
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr19:2926236-4051633
GRCh38:
Chr19:2926238-4051635
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
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 casesLikely pathogenic
(Dec 16, 2011)
no assertion criteria provided
8.
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 casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
9.
GRCh37:
Chr19:3437994-4039215
GRCh38:
Chr19:3437996-4039217
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
10.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
11.
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 casesLikely pathogenic
(Sep 23, 2013)
no assertion criteria provided
12.
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 casesUncertain significance
(Aug 19, 2010)
no assertion criteria provided
13.
GRCh37:
Chr19:3976253
GRCh38:
Chr19:3976255
EEF2not providedBenign
(Jun 20, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr19:3976321
GRCh38:
Chr19:3976323
EEF2not providedBenign
(Jun 9, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr19:3976441
GRCh38:
Chr19:3976443
EEF2not providedBenign
(May 11, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr19:3976549
GRCh38:
Chr19:3976551
EEF2not provided, not specifiedBenign
(May 4, 2021)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr19:3976599
GRCh38:
Chr19:3976601
EEF2not specified, not providedBenign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr19:3976608
GRCh38:
Chr19:3976610
EEF2R841Cnot providedUncertain significance
(May 11, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr19:3976621
GRCh38:
Chr19:3976623
EEF2not specifiedLikely benign
(Feb 16, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr19:3976633
GRCh38:
Chr19:3976635
EEF2not providedBenign/Likely benign
(May 10, 2019)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr19:3976654
GRCh38:
Chr19:3976656
EEF2F825Lnot providedUncertain significance
(Sep 28, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr19:3976666
GRCh38:
Chr19:3976668
EEF2not specifiedLikely benign
(Dec 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr19:3976669
GRCh38:
Chr19:3976671
EEF2not specifiedLikely benign
(Apr 16, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr19:3976669
GRCh38:
Chr19:3976671
EEF2not specified, not providedBenign
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr19:3976680
GRCh38:
Chr19:3976682
EEF2W817Gnot providedUncertain significance
(Jun 2, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr19:3976688
GRCh38:
Chr19:3976690
EEF2F814Cnot providedUncertain significance
(Feb 13, 2023)
criteria provided, single submitter
27.
GRCh37:
Chr19:3976697
GRCh38:
Chr19:3976699
EEF2Q811Rnot providedUncertain significance
(Nov 30, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr19:3976699
GRCh38:
Chr19:3976701
EEF2not specified, not providedBenign
(Apr 8, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr19:3976705
GRCh38:
Chr19:3976707
EEF2not specified, not providedBenign
(Oct 12, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr19:3976706
GRCh38:
Chr19:3976708
EEF2A808VInborn genetic diseases, not providedUncertain significance
(Jan 10, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr19:3976714
GRCh38:
Chr19:3976716
EEF2not provided, not specifiedBenign/Likely benign
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr19:3976760
GRCh38:
Chr19:3976762
EEF2not providedLikely benign
(Apr 1, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr19:3976760
GRCh38:
Chr19:3976762
EEF2not providedBenign
(Oct 28, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr19:3976863
GRCh38:
Chr19:3976865
EEF2not providedBenign
(May 11, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr19:3976908
GRCh38:
Chr19:3976910
EEF2not providedLikely benign
(May 12, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr19:3976942
GRCh38:
Chr19:3976944
EEF2not providedLikely benign
(May 11, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr19:3977205
GRCh38:
Chr19:3977207
EEF2not providedLikely benign
(Nov 7, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr19:3977206
GRCh38:
Chr19:3977208
EEF2not providedLikely benign
(Jul 28, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr19:3977217
GRCh38:
Chr19:3977219
EEF2not provided, not specifiedBenign
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr19:3977229
GRCh38:
Chr19:3977231
EEF2not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr19:3977254
GRCh38:
Chr19:3977256
EEF2M781KInborn genetic diseasesUncertain significance
(Dec 1, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr19:3977265
GRCh38:
Chr19:3977267
EEF2not providedBenign
(May 25, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr19:3977282
GRCh38:
Chr19:3977284
EEF2E772KSpinocerebellar ataxia type 26Likely pathogenic
(May 25, 2022)
no assertion criteria provided
44.
GRCh37:
Chr19:3977289
GRCh38:
Chr19:3977291
EEF2not specified, not providedBenign
(Jan 1, 2023)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr19:3977311
GRCh38:
Chr19:3977313
EEF2V762Anot providedUncertain significance
(Jun 23, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr19:3977316
GRCh38:
Chr19:3977318
EEF2not providedLikely benign
(Sep 9, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr19:3977317
GRCh38:
Chr19:3977319
EEF2Y760Cnot providedUncertain significance
(Nov 16, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr19:3977352
GRCh38:
Chr19:3977354
EEF2not providedLikely benign
(Aug 9, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr19:3977359
GRCh38:
Chr19:3977361
EEF2not providedBenign
(Oct 26, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr19:3977364
GRCh38:
Chr19:3977366
EEF2not providedBenign
(Oct 31, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr19:3977413
GRCh38:
Chr19:3977415
EEF2, LOC130063169not providedBenign
(Nov 1, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr19:3977416
GRCh38:
Chr19:3977418
EEF2, LOC130063169not providedBenign/Likely benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr19:3977431
GRCh38:
Chr19:3977433
EEF2, LOC130063169I749Vnot providedUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
54.
GRCh37:
Chr19:3977435
GRCh38:
Chr19:3977437
EEF2, LOC130063169Spinocerebellar ataxia type 26, not providedConflicting interpretations of pathogenicity
(May 15, 2022)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr19:3977437
GRCh38:
Chr19:3977439
EEF2, LOC130063169V747MInborn genetic diseasesUncertain significance
(Dec 15, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr19:3977471
GRCh38:
Chr19:3977473
EEF2, LOC130063169not specified, not providedBenign
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr19:3977471
GRCh38:
Chr19:3977473
EEF2, LOC130063169not providedLikely benign
(Dec 14, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr19:3977485
GRCh38:
Chr19:3977487
EEF2, LOC130063169A731Tnot providedUncertain significance
(Apr 19, 2023)
criteria provided, single submitter
59.
GRCh37:
Chr19:3977486
GRCh38:
Chr19:3977488
EEF2, LOC130063169Spinocerebellar ataxia type 26, not providedBenign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr19:3977491
GRCh38:
Chr19:3977493
EEF2, LOC130063169L729Fnot providedUncertain significance
(Feb 1, 2023)
criteria provided, single submitter
61.
GRCh37:
Chr19:3977500
GRCh38:
Chr19:3977502
EEF2, LOC130063169R726Wnot providedUncertain significance
(Jun 25, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr19:3977501
GRCh38:
Chr19:3977503
EEF2, LOC130063169not providedBenign
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr19:3977528
GRCh38:
Chr19:3977530
EEF2, LOC130063169not specifiedBenign
(Jun 21, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr19:3977530
GRCh38:
Chr19:3977532
EEF2, LOC130063169R716Cnot providedUncertain significance
(Apr 5, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr19:3977540
GRCh38:
Chr19:3977542
EEF2, LOC130063169not provided, not specifiedBenign/Likely benign
(Feb 20, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr19:3977543
GRCh38:
Chr19:3977545
EEF2, LOC130063169not providedBenign/Likely benign
(Sep 18, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr19:3977546
GRCh38:
Chr19:3977548
EEF2, LOC130063169not specifiedBenign
(Jan 30, 2020)
criteria provided, single submitter
68.
GRCh37:
Chr19:3977558
GRCh38:
Chr19:3977560
EEF2, LOC130063169not providedLikely benign
(Jul 13, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr19:3977561
GRCh38:
Chr19:3977563
EEF2, LOC130063169not providedBenign
(Jun 29, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr19:3977563
GRCh38:
Chr19:3977565
EEF2, LOC130063169H705Ynot provided, Inborn genetic diseasesUncertain significance
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr19:3977567
GRCh38:
Chr19:3977569
EEF2, LOC130063169not specified, not providedBenign/Likely benign
(Aug 24, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr19:3977573
GRCh38:
Chr19:3977575
EEF2, LOC130063169not providedLikely benign
(Aug 20, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr19:3977581
GRCh38:
Chr19:3977583
EEF2, LOC130063169G699SInborn genetic diseasesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr19:3977586
GRCh38:
Chr19:3977588
EEF2, LOC130063169M697Tnot providedUncertain significance
(Aug 1, 2017)
criteria provided, single submitter
75.
GRCh37:
Chr19:3977762
GRCh38:
Chr19:3977764
EEF2not providedLikely benign
(May 17, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr19:3977807
GRCh38:
Chr19:3977809
EEF2not specified, not providedBenign
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr19:3977808
GRCh38:
Chr19:3977810
EEF2not providedLikely benign
(Apr 10, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr19:3977825
GRCh38:
Chr19:3977827
EEF2T687Snot providedUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr19:3977892
GRCh38:
Chr19:3977894
EEF2D664Enot providedUncertain significance
(Nov 24, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr19:3977895
GRCh38:
Chr19:3977897
EEF2not specified, not providedBenign/Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr19:3977905
GRCh38:
Chr19:3977907
EEF2N660SSpinocerebellar ataxia type 26not providedno assertion provided
82.
GRCh37:
Chr19:3977922
GRCh38:
Chr19:3977924
EEF2not providedLikely benign
(Mar 26, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr19:3977953
GRCh38:
Chr19:3977955
EEF2A644Vnot specifiedUncertain significance
(Jun 16, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr19:3977958
GRCh38:
Chr19:3977960
EEF2not providedBenign
(Aug 9, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr19:3977967
GRCh38:
Chr19:3977969
EEF2not providedLikely benign
(May 20, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr19:3977976
GRCh38:
Chr19:3977978
EEF2not providedBenign/Likely benign
(Sep 9, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr19:3977988
GRCh38:
Chr19:3977990
EEF2not providedLikely benign
(Jul 20, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr19:3977988
GRCh38:
Chr19:3977990
EEF2not providedLikely benign
(Jan 31, 2020)
criteria provided, single submitter
89.
GRCh37:
Chr19:3978014
GRCh38:
Chr19:3978016
EEF2A624Tnot provided, Inborn genetic diseasesUncertain significance
(Dec 19, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr19:3978015
GRCh38:
Chr19:3978017
EEF2not providedLikely benign
(Jul 26, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr19:3978019
GRCh38:
Chr19:3978021
EEF2V622Anot providedUncertain significance
(Nov 21, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr19:3978025
GRCh38:
Chr19:3978027
EEF2G620fsnot providedUncertain significance
(Mar 13, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr19:3978049
GRCh38:
Chr19:3978051
EEF2G612Anot providedUncertain significance
(May 23, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr19:3978056
GRCh38:
Chr19:3978058
EEF2P610AInborn genetic diseasesUncertain significance
(Dec 21, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr19:3978097
GRCh38:
Chr19:3978099
EEF2P596Hnot providedPathogenic
(Dec 6, 2019)
criteria provided, single submitter
96.
GRCh37:
Chr19:3978100
GRCh38:
Chr19:3978102
EEF2S595Fnot providedUncertain significance
(Jun 21, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr19:3978114
GRCh38:
Chr19:3978116
EEF2not specified, not providedBenign
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr19:3978117
GRCh38:
Chr19:3978119
EEF2not providedLikely benign
(May 15, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr19:3978119
GRCh38:
Chr19:3978121
EEF2V589Mnot providedUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr19:3978123
GRCh38:
Chr19:3978125
EEF2not providedLikely benign
(Sep 23, 2022)
criteria provided, single submitter
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