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Items: 1 to 100 of 171

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:
Chr19:259395-2555147
GRCh38:
Chr19:259395-2555149
ABCA7, ABHD17A, ADAMTSL5, ADAT3, AMH, AP3D1, APC2, ARHGAP45, ARID3A, ATP5F1D, ATP8B3, AZU1, BSG, BSG-AS1, BTBD2, C19orf25, C2CD4C, CBARP, CBARP-DT, CDC34, CFD, CIMAP1D, CIRBP, CIRBP-AS1, CNN2, CSNK1G2, CSNK1G2-AS1, DAZAP1, DOT1L, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GADD45B, GAMT, GNG7, GPX4, GRIN3B, GZMM, HCN2, IZUMO4, JSRP1, KISS1R, KLF16, LINC01775, LINGO3, LMNB2, LOC100288123, LOC101928450, LOC106804547, LOC108254692, LOC108281123, LOC108783649, LOC110006317, LOC110006318, LOC111413035, LOC112543439, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC113939966, LOC116276493, LOC116276494, LOC116276495, LOC116276496, LOC116276497, LOC116276498, LOC121627842, LOC121627843, LOC121627844, LOC121627845, LOC121627846, LOC121627847, LOC121852971, LOC125371444, LOC125371446, LOC125371447, LOC125371448, LOC125371449, LOC126862835, LOC126862836, LOC126862837, LOC126862838, LOC128900001, LOC129391009, LOC129391010, LOC129391011, LOC129391012, LOC129391013, LOC129391014, LOC129391015, LOC129391016, LOC129391017, LOC129391018, LOC129391019, LOC129391020, LOC129391021, LOC129391022, LOC129929036, LOC130062811, LOC130062812, LOC130062813, LOC130062814, LOC130062815, LOC130062816, LOC130062817, LOC130062818, LOC130062819, LOC130062820, LOC130062821, LOC130062822, LOC130062823, LOC130062824, LOC130062825, LOC130062826, LOC130062827, LOC130062828, LOC130062829, LOC130062830, LOC130062831, LOC130062832, LOC130062833, LOC130062834, LOC130062835, LOC130062836, LOC130062837, LOC130062838, LOC130062839, LOC130062840, LOC130062841, LOC130062842, LOC130062843, LOC130062844, LOC130062845, LOC130062846, LOC130062847, LOC130062848, LOC130062849, LOC130062850, LOC130062851, LOC130062852, LOC130062853, LOC130062854, LOC130062855, LOC130062856, LOC130062857, LOC130062858, LOC130062859, LOC130062860, LOC130062861, LOC130062862, LOC130062863, LOC130062864, LOC130062865, LOC130062866, LOC130062867, LOC130062868, LOC130062869, LOC130062870, LOC130062871, LOC130062872, LOC130062873, LOC130062874, LOC130062875, LOC130062876, LOC130062877, LOC130062878, LOC130062879, LOC130062880, LOC130062881, LOC130062882, LOC130062883, LOC130062884, LOC130062885, LOC130062886, LOC130062887, LOC130062888, LOC130062889, LOC130062890, LOC130062891, LOC130062892, LOC130062893, LOC130062894, LOC130062895, LOC130062896, LOC130062897, LOC130062898, LOC130062899, LOC130062900, LOC130062901, LOC130062902, LOC130062903, LOC130062904, LOC130062905, LOC130062906, LOC130062907, LOC130062908, LOC130062909, LOC130062910, LOC130062911, LOC130062912, LOC130062913, LOC130062914, LOC130062915, LOC130062916, LOC130062917, LOC130062918, LOC130062919, LOC130062920, LOC130062921, LOC130062922, LOC130062923, LOC130062924, LOC130062925, LOC130062926, LOC130062927, LOC130062928, LOC130062929, LOC130062930, LOC130062931, LOC130062932, LOC130062933, LOC130062934, LOC130062935, LOC130062936, LOC130062937, LOC130062938, LOC130062939, LOC130062940, LOC130062941, LOC130062942, LOC130062943, LOC130062944, LOC130062945, LOC130062946, LOC130062947, LOC130062948, LOC130062949, LOC130062950, LOC130062951, LOC130062952, LOC130062953, LOC130062954, LOC130062955, LOC130062956, LOC130062957, LOC130062958, LOC130062959, LOC130062960, LOC130062961, LOC130062962, LOC130062963, LOC130062964, LOC130062965, LOC130062966, LOC130062967, LOC130062968, LOC130062969, LOC130062970, LOC130062971, LOC130062972, LOC130062973, LOC130062974, LOC130062975, LOC130062976, LOC130062977, LOC130062978, LOC130062979, LOC130062980, LOC130062981, LOC130062982, LOC130062983, LOC130062984, LOC130062985, LOC130062986, LOC130062987, LOC130062988, LOC130062989, LOC130062990, LOC130062991, LOC130062992, LOC130062993, LOC130062994, LOC130062995, LOC130062996, LOC130062997, LOC130062998, LOC130062999, LOC130063000, LOC130063001, LOC130063002, LOC130063003, LOC130063004, LOC130063005, LOC130063006, LOC130063007, LOC130063008, LOC130063009, LOC130063010, LOC130063011, LOC130063012, LOC130063013, LOC130063014, LOC130063015, LOC130063016, LOC130063017, LOC130063018, LOC130063019, LOC130063020, LOC130063021, LOC130063022, LOC130063023, LOC130063024, LOC130063025, LOC130063026, LOC130063027, LOC130063028, LOC130063029, LOC130063030, LOC130063031, LOC130063032, LOC130063033, LOC130063034, LOC130063035, LOC130063036, LOC130063037, LOC130063038, LOC130063039, LOC130063040, LOC130063041, LOC130063042, LOC130063043, LOC130063044, LOC130063045, LOC130063046, LOC130063047, LOC130063048, LOC130063049, LOC130063050, LOC130063051, LOC130063052, LOC130063053, LOC130063054, LOC130063055, LOC130063056, LOC130063057, LOC130063058, LOC130063059, LOC130063060, LOC130063061, LOC130063062, LOC130063063, LOC130063064, LOC130063065, LOC130063066, LOC130063067, LOC130063068, LOC130063069, LOC130063070, LOC130063071, LOC130063072, LOC130063073, LOC130063074, LOC130063075, LOC130063076, LOC130063077, LOC130063078, LOC130063079, LOC130063080, LOC130063081, LOC130063082, LOC132090902, LSM7, MADCAM1, MADCAM1-AS1, MBD3, MED16, MEX3D, MIDN, MIER2, MIR1227, MIR1909, MIR3187, MIR4321, MIR4745, MIR6789, MIR7108, MISP, MKNK2, MOB3A, NDUFS7, OAZ1, ONECUT3, PALM, PCSK4, PEAK3, PLEKHJ1, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, REEP6, REXO1, RNF126, RNU6-2, RNU6-9, RPS15, SBNO2, SCAMP4, SF3A2, SHC2, SPMAP2, SPPL2B, STK11, TCF3, TIMM13, TMEM259, TMPRSS9, TPGS1, TRF-GAA1-6, TRN-GTT2-6, UQCR11, WDR18
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr19:421537-2897919
GRCh38:
Chr19:421537-2897921
ABCA7, ABHD17A, ADAMTSL5, ADAT3, AMH, AP3D1, APC2, ARHGAP45, ARID3A, ATP5F1D, ATP8B3, AZU1, BSG, BSG-AS1, BTBD2, C19orf25, CBARP, CBARP-DT, CDC34, CFD, CIMAP1D, CIRBP, CIRBP-AS1, CNN2, CSNK1G2, CSNK1G2-AS1, DAZAP1, DIRAS1, DOT1L, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GADD45B, GAMT, GNG7, GPX4, GRIN3B, GZMM, HCN2, IZUMO4, JSRP1, KISS1R, KLF16, LINC01775, LINGO3, LMNB2, LOC100288123, LOC101928450, LOC106804547, LOC108254692, LOC108348031, LOC108783649, LOC110006317, LOC110006318, LOC111413035, LOC111556134, LOC112543439, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC112543476, LOC112543477, LOC113939966, LOC116276493, LOC116276494, LOC116276495, LOC116276496, LOC116276497, LOC116276498, LOC121627842, LOC121627843, LOC121627844, LOC121627845, LOC121627846, LOC121627847, LOC121852971, LOC125371444, LOC125371446, LOC125371447, LOC125371448, LOC125371449, LOC126862836, LOC126862837, LOC126862838, LOC126862839, LOC128900001, LOC129391014, LOC129391015, LOC129391016, LOC129391017, LOC129391018, LOC129391019, LOC129391020, LOC129391021, LOC129391022, LOC129391023, LOC129391024, LOC129391025, LOC129929036, LOC130062818, LOC130062819, LOC130062820, LOC130062821, LOC130062822, LOC130062823, LOC130062824, LOC130062825, LOC130062826, LOC130062827, LOC130062828, LOC130062829, LOC130062830, LOC130062831, LOC130062832, LOC130062833, LOC130062834, LOC130062835, LOC130062836, LOC130062837, LOC130062838, LOC130062839, LOC130062840, LOC130062841, LOC130062842, LOC130062843, LOC130062844, LOC130062845, LOC130062846, LOC130062847, LOC130062848, LOC130062849, LOC130062850, LOC130062851, LOC130062852, LOC130062853, LOC130062854, LOC130062855, LOC130062856, LOC130062857, LOC130062858, LOC130062859, LOC130062860, LOC130062861, LOC130062862, LOC130062863, LOC130062864, LOC130062865, LOC130062866, LOC130062867, LOC130062868, LOC130062869, LOC130062870, LOC130062871, LOC130062872, LOC130062873, LOC130062874, LOC130062875, LOC130062876, LOC130062877, LOC130062878, LOC130062879, LOC130062880, LOC130062881, LOC130062882, LOC130062883, LOC130062884, LOC130062885, LOC130062886, LOC130062887, LOC130062888, LOC130062889, LOC130062890, LOC130062891, LOC130062892, LOC130062893, LOC130062894, LOC130062895, LOC130062896, LOC130062897, LOC130062898, LOC130062899, LOC130062900, LOC130062901, LOC130062902, LOC130062903, LOC130062904, LOC130062905, LOC130062906, LOC130062907, LOC130062908, LOC130062909, LOC130062910, LOC130062911, LOC130062912, LOC130062913, LOC130062914, LOC130062915, LOC130062916, LOC130062917, LOC130062918, LOC130062919, LOC130062920, LOC130062921, LOC130062922, LOC130062923, LOC130062924, LOC130062925, LOC130062926, LOC130062927, LOC130062928, LOC130062929, LOC130062930, LOC130062931, LOC130062932, LOC130062933, LOC130062934, LOC130062935, LOC130062936, LOC130062937, LOC130062938, LOC130062939, LOC130062940, LOC130062941, LOC130062942, LOC130062943, LOC130062944, LOC130062945, LOC130062946, LOC130062947, LOC130062948, LOC130062949, LOC130062950, LOC130062951, LOC130062952, LOC130062953, LOC130062954, LOC130062955, LOC130062956, LOC130062957, LOC130062958, LOC130062959, LOC130062960, LOC130062961, LOC130062962, LOC130062963, LOC130062964, LOC130062965, LOC130062966, LOC130062967, LOC130062968, LOC130062969, LOC130062970, LOC130062971, LOC130062972, LOC130062973, LOC130062974, LOC130062975, LOC130062976, LOC130062977, LOC130062978, LOC130062979, LOC130062980, LOC130062981, LOC130062982, LOC130062983, LOC130062984, LOC130062985, LOC130062986, LOC130062987, LOC130062988, LOC130062989, LOC130062990, LOC130062991, LOC130062992, LOC130062993, LOC130062994, LOC130062995, LOC130062996, LOC130062997, LOC130062998, LOC130062999, LOC130063000, LOC130063001, LOC130063002, LOC130063003, LOC130063004, LOC130063005, LOC130063006, LOC130063007, LOC130063008, LOC130063009, LOC130063010, LOC130063011, LOC130063012, LOC130063013, LOC130063014, LOC130063015, LOC130063016, LOC130063017, LOC130063018, LOC130063019, LOC130063020, LOC130063021, LOC130063022, LOC130063023, LOC130063024, LOC130063025, LOC130063026, LOC130063027, LOC130063028, LOC130063029, LOC130063030, LOC130063031, LOC130063032, LOC130063033, LOC130063034, LOC130063035, LOC130063036, LOC130063037, LOC130063038, LOC130063039, LOC130063040, LOC130063041, LOC130063042, LOC130063043, LOC130063044, LOC130063045, LOC130063046, LOC130063047, LOC130063048, LOC130063049, LOC130063050, LOC130063051, LOC130063052, LOC130063053, LOC130063054, LOC130063055, LOC130063056, LOC130063057, LOC130063058, LOC130063059, LOC130063060, LOC130063061, LOC130063062, LOC130063063, LOC130063064, LOC130063065, LOC130063066, LOC130063067, LOC130063068, LOC130063069, LOC130063070, LOC130063071, LOC130063072, LOC130063073, LOC130063074, LOC130063075, LOC130063076, LOC130063077, LOC130063078, LOC130063079, LOC130063080, LOC130063081, LOC130063082, LOC130063083, LOC130063084, LOC130063085, LOC130063086, LOC130063087, LOC130063088, LOC130063089, LOC130063090, LOC130063091, LOC130063092, LOC130063093, LOC130063094, LOC130063095, LOC130063096, LOC130063097, LOC130063098, LOC130063099, LOC130063100, LOC130063101, LOC130063102, LOC130063103, LOC130063104, LOC130063105, LOC130063106, LOC130063107, LOC130063108, LOC132090902, LSM7, MADCAM1, MADCAM1-AS1, MBD3, MED16, MEX3D, MIDN, MIR1227, MIR1909, MIR3187, MIR4321, MIR4745, MIR6789, MIR7108, MIR7850, MISP, MKNK2, MOB3A, NDUFS7, OAZ1, ONECUT3, PALM, PCSK4, PEAK3, PLEKHJ1, PLK5, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, REEP6, REXO1, RNF126, RNU6-2, RNU6-9, RPS15, SBNO2, SCAMP4, SF3A2, SGTA, SHC2, SLC39A3, SPPL2B, STK11, TCF3, THOP1, TIMM13, TMEM259, TMPRSS9, TPGS1, TRF-GAA1-6, TRN-GTT2-6, UQCR11, WDR18, ZNF554, ZNF555, ZNF556
See casesLikely pathogenic
(Dec 13, 2010)
no assertion criteria provided
5.
GRCh37:
Chr19:1351162-2555147
GRCh38:
Chr19:1351163-2555149
ABHD17A, ADAMTSL5, ADAT3, AMH, AP3D1, APC2, ATP8B3, BTBD2, C19orf25, CSNK1G2, CSNK1G2-AS1, DAZAP1, DOT1L, GADD45B, GAMT, GNG7, IZUMO4, JSRP1, KLF16, LINC01775, LINGO3, LMNB2, LOC100288123, LOC106804547, LOC108783649, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC113939966, LOC116276496, LOC116276497, LOC116276498, LOC121627844, LOC121627845, LOC121627846, LOC121627847, LOC125371448, LOC125371449, LOC126862838, LOC128900001, LOC129391018, LOC129391019, LOC129391020, LOC129391021, LOC129391022, LOC129929036, 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, LSM7, MBD3, MEX3D, MIR1227, MIR1909, MIR4321, MIR6789, MIR7108, MKNK2, MOB3A, NDUFS7, OAZ1, ONECUT3, PCSK4, PEAK3, PLEKHJ1, PLK5, PWWP3A, REEP6, REXO1, RPS15, SCAMP4, SF3A2, SPPL2B, TCF3, TIMM13, TMPRSS9, TRF-GAA1-6, TRN-GTT2-6, UQCR11
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
6.
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
7.
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
8.
GRCh37:
Chr19:1727561-2306495
GRCh38:
Chr19:1727562-2306496
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
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
10.
GRCh37:
Chr19:2248882
GRCh38:
Chr19:2248883
AMH, LOC108783649not providedBenign
(Jun 18, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr19:2249112
GRCh38:
Chr19:2249113
AMH, LOC108783649not providedBenign
(Jun 18, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr19:2249336
GRCh38:
Chr19:2249337
AMH, LOC108783649R2QInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Feb 28, 2023)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr19:2249356
GRCh38:
Chr19:2249357
AMH, LOC108783649L9MInborn genetic diseasesUncertain significance
(Nov 22, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr19:2249366
GRCh38:
Chr19:2249367
AMH, LOC108783649V12Gnot providedUncertain significance
(Sep 8, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr19:2249383
GRCh38:
Chr19:2249384
AMH, LOC108783649A18TInborn genetic diseasesUncertain significance
(Dec 5, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr19:2249384
GRCh38:
Chr19:2249385
AMH, LOC108783649A18Vnot providedLikely benign
(Jun 27, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr19:2249407
GRCh38:
Chr19:2249408
AMHR26Gnot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr19:2249459
GRCh38:
Chr19:2249460
AMHL43SInborn genetic diseasesUncertain significance
(Aug 26, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr19:2249460
GRCh38:
Chr19:2249461
AMHnot providedLikely benign
(Oct 14, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr19:2249467
GRCh38:
Chr19:2249468
AMHP46Anot specifiedUncertain significance
(Jul 24, 2023)
criteria provided, single submitter
21.
GRCh37:
Chr19:2249468
GRCh38:
Chr19:2249469
AMHP46Hnot providedUncertain significance
(Sep 3, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr19:2249477
GRCh38:
Chr19:2249478
AMHS49IPersistent Mullerian duct syndrome, not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr19:2249482
GRCh38:
Chr19:2249483
AMHQ51fsPersistent Mullerian duct syndromePathogenic
(Dec 22, 2019)
criteria provided, single submitter
24.
GRCh37:
Chr19:2249497
GRCh38:
Chr19:2249498
AMHnot providedLikely benign
(Aug 18, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr19:2249505
GRCh38:
Chr19:2249506
AMHnot specifiedLikely benign
(May 22, 2019)
criteria provided, single submitter
26.
GRCh37:
Chr19:2249533-2249534
GRCh38:
Chr19:2249534-2249535
AMHL70fsnot providedPathogenic
(Oct 28, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr19:2249563
GRCh38:
Chr19:2249564
AMHA78Tnot providedUncertain significance
(Feb 24, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr19:2249582
GRCh38:
Chr19:2249583
AMHL84PInborn genetic diseasesUncertain significance
(Feb 16, 2023)
criteria provided, single submitter
29.
GRCh37:
Chr19:2249582
GRCh38:
Chr19:2249583
AMHL84Qnot providedUncertain significance
(Nov 16, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr19:2249583
GRCh38:
Chr19:2249584
AMHnot providedBenign
(Oct 22, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr19:2249604
GRCh38:
Chr19:2249605
AMHnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
32.
GRCh37:
Chr19:2249612
GRCh38:
Chr19:2249613
AMHP94LInborn genetic diseasesUncertain significance
(Oct 22, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr19:2249626
GRCh38:
Chr19:2249627
AMHT99SPersistent Mullerian duct syndrome, not providedUncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr19:2249631
GRCh38:
Chr19:2249632
AMHnot providedBenign
(Mar 14, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr19:2249634
GRCh38:
Chr19:2249635
AMHnot providedBenign
(Oct 22, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr19:2249635
GRCh38:
Chr19:2249636
AMHV102Inot providedBenign
(Aug 17, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr19:2249647
GRCh38:
Chr19:2249648
AMHG106Snot providedBenign
(Nov 4, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr19:2249677
GRCh38:
Chr19:2249678
AMHR116WInborn genetic diseasesUncertain significance
(Sep 14, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr19:2249680
GRCh38:
Chr19:2249681
AMHR117Wnot providedUncertain significance
(Sep 25, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr19:2249681
GRCh38:
Chr19:2249682
AMHR117Qnot specifiedLikely benign
(Nov 3, 2015)
criteria provided, single submitter
41.
GRCh37:
Chr19:2249699
GRCh38:
Chr19:2249700
AMHR123Qnot providedBenign
(Jul 31, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr19:2249727
GRCh38:
Chr19:2249728
AMHnot providedLikely benign
(Mar 27, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr19:2250236
GRCh38:
Chr19:2250237
AMHnot providedBenign
(Jun 18, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr19:2250351
GRCh38:
Chr19:2250352
AMHT143Inot providedBenign
(Oct 23, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr19:2250353
GRCh38:
Chr19:2250354
AMHP144AInborn genetic diseasesUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr19:2250387-2250400
GRCh38:
Chr19:2250388-2250401
AMHP158fsPersistent mullerian duct syndrome, type IPathogenic
(Dec 1, 1992)
no assertion criteria provided
47.
GRCh37:
Chr19:2250389
GRCh38:
Chr19:2250390
AMHA156Tnot specifiedUncertain significance
(May 23, 2023)
criteria provided, single submitter
48.
GRCh37:
Chr19:2250393
GRCh38:
Chr19:2250394
AMHG157DInborn genetic diseasesLikely benign
(Aug 18, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr19:2250401
GRCh38:
Chr19:2250402
AMHE160Qnot specified, not providedUncertain significance
(Mar 4, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr19:2250425
GRCh38:
Chr19:2250426
AMHP168SInborn genetic diseasesUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr19:2250425
GRCh38:
Chr19:2250426
AMHP168TInborn genetic diseasesUncertain significance
(Feb 10, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr19:2250469
GRCh38:
Chr19:2250470
AMHnot providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr19:2250476
GRCh38:
Chr19:2250477
AMHQ185Enot providedLikely benign
(Jun 14, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr19:2250479
GRCh38:
Chr19:2250480
AMHnot providedPathogenic
(Mar 19, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr19:2250528
GRCh38:
Chr19:2250529
AMHnot providedBenign
(Nov 10, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr19:2250658
GRCh38:
Chr19:2250659
AMH, LOC130063038, MIR4321C188YPersistent Mullerian duct syndromePathogenicno assertion criteria provided
57.
GRCh37:
Chr19:2250666
GRCh38:
Chr19:2250667
AMH, LOC130063038, MIR4321R191*Persistent mullerian duct syndrome, type IPathogenic
(Dec 1, 1992)
no assertion criteria provided
58.
GRCh37:
Chr19:2250670
GRCh38:
Chr19:2250671
AMH, LOC130063038, MIR4321D192Gnot provided, Inborn genetic diseasesUncertain significance
(Apr 20, 2023)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr19:2250675
GRCh38:
Chr19:2250676
AMH, LOC130063038, MIR4321R194Cnot providedUncertain significance
(Oct 8, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr19:2250699
GRCh38:
Chr19:2250700
AMH, LOC130063038, MIR4321R202Cnot providedUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr19:2250702
GRCh38:
Chr19:2250703
AMH, LOC130063038, MIR4321P203SInborn genetic diseasesUncertain significance
(Dec 28, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr19:2250711
GRCh38:
Chr19:2250712
AMH, MIR4321A206Pnot providedUncertain significance
(Oct 28, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr19:2250744
GRCh38:
Chr19:2250745
AMHQ217*Persistent Mullerian duct syndromePathogenic
(Aug 27, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr19:2250751
GRCh38:
Chr19:2250752
AMHR219Hnot providedUncertain significance
(Nov 5, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr19:2250766
GRCh38:
Chr19:2250767
AMHnot providedLikely benign
(Oct 17, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr19:2250779
GRCh38:
Chr19:2250780
AMHnot providedBenign
(Oct 21, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr19:2250840-2250841
GRCh38:
Chr19:2250841-2250842
AMHnot providedBenign
(Jul 18, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr19:2250851
GRCh38:
Chr19:2250852
AMHS223Fnot providedUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr19:2250889
GRCh38:
Chr19:2250890
AMHG236RInborn genetic diseasesUncertain significance
(May 10, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr19:2250895
GRCh38:
Chr19:2250896
AMHD238HInborn genetic diseasesUncertain significance
(Dec 14, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr19:2250949
GRCh38:
Chr19:2250950
AMHE256QInborn genetic diseases, not providedUncertain significance
(Feb 24, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr19:2250965
GRCh38:
Chr19:2250966
AMHP261LInborn genetic diseasesUncertain significance
(Aug 4, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr19:2250972
GRCh38:
Chr19:2250973
AMHnot providedLikely benign
(Feb 21, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr19:2250985
GRCh38:
Chr19:2250986
AMHT268Anot provided, Persistent Mullerian duct syndrome, Inborn genetic diseases
Uncertain significance
(Jul 23, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr19:2250991
GRCh38:
Chr19:2250992
AMHP270Snot provided, Persistent Mullerian duct syndromeBenign/Likely benign
(Mar 31, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr19:2251017
GRCh38:
Chr19:2251018
AMHnot specifiedLikely benign
(Dec 10, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr19:2251086
GRCh38:
Chr19:2251087
AMHnot providedBenign
(Sep 7, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr19:2251101
GRCh38:
Chr19:2251102
AMHnot providedLikely benign
(May 27, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr19:2251107
GRCh38:
Chr19:2251108
AMHnot providedBenign
(Oct 30, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr19:2251125
GRCh38:
Chr19:2251126
AMHnot providedLikely benign
(Aug 1, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr19:2251137
GRCh38:
Chr19:2251138
AMHD288EPersistent Mullerian duct syndrome, not providedConflicting interpretations of pathogenicity
(Feb 1, 2023)
criteria provided, conflicting interpretations
82.
GRCh37:
Chr19:2251178
GRCh38:
Chr19:2251179
AMHR302QAMH-related condition, not providedPathogenic/Likely pathogenic
(Dec 21, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr19:2251179
GRCh38:
Chr19:2251180
AMHnot providedLikely benign
(Sep 27, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr19:2251188
GRCh38:
Chr19:2251189
AMHnot providedLikely benign
(Apr 1, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr19:2251205
GRCh38:
Chr19:2251206
AMHP311LInborn genetic diseasesUncertain significance
(Jun 2, 2023)
criteria provided, single submitter
86.
GRCh37:
Chr19:2251208
GRCh38:
Chr19:2251209
AMHR312HInborn genetic diseasesUncertain significance
(May 31, 2023)
criteria provided, single submitter
87.
GRCh37:
Chr19:2251223
GRCh38:
Chr19:2251224
AMHP317RInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(May 23, 2023)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr19:2251229
GRCh38:
Chr19:2251230
AMHA319Vnot providedLikely benign
(Aug 23, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr19:2251234
GRCh38:
Chr19:2251235
AMHA321TInborn genetic diseasesUncertain significance
(Aug 2, 2023)
criteria provided, single submitter
90.
GRCh37:
Chr19:2251240
GRCh38:
Chr19:2251241
AMHF323LInborn genetic diseasesUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr19:2251247
GRCh38:
Chr19:2251248
AMHQ325Rnot specified, not provided, Persistent Mullerian duct syndrome
Benign/Likely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr19:2251264
GRCh38:
Chr19:2251265
AMHS331Pnot specifiedUncertain significance
(Dec 10, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr19:2251287
GRCh38:
Chr19:2251288
AMHnot providedLikely benign
(Dec 5, 2017)
criteria provided, single submitter
94.
GRCh37:
Chr19:2251289
GRCh38:
Chr19:2251290
AMHL339Pnot providedUncertain significance
(Sep 10, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr19:2251306
GRCh38:
Chr19:2251307
AMHP345SInborn genetic diseasesUncertain significance
(Jun 6, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr19:2251327
GRCh38:
Chr19:2251328
AMHP352Snot providedUncertain significance
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr19:2251332
GRCh38:
Chr19:2251333
AMHnot providedLikely benign
(Dec 19, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr19:2251356
GRCh38:
Chr19:2251357
AMHnot providedLikely benign
(May 30, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr19:2251370
GRCh38:
Chr19:2251371
AMHP366Lnot specifiedUncertain significance
(Jul 26, 2023)
criteria provided, single submitter
100.
GRCh37:
Chr19:2251370
GRCh38:
Chr19:2251371
AMHP366RInborn genetic diseasesUncertain significance
(May 3, 2023)
criteria provided, single submitter
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