| - GRCh37:
- Chr19:48411797-59051332
- GRCh38:
- Chr19:47908540-58539965
| ZBTB45, ZFP28, ZFP28-DT, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF114, ZNF132, ZNF132-DT, ZNF134, ZNF135, ZNF154, ZNF160, ZNF17, ZNF175, ZNF211, ZNF256, ZNF264, ZNF274, ZNF28, ZNF304, ZNF320, ZNF324, ZNF324B, ZNF329, ZNF331, ZNF347, ZNF350, ZNF350-AS1, ZNF415, ZNF416, ZNF417, ZNF418, ZNF419, ZNF432, ZNF444, ZNF446, ZNF460, ZNF460-AS1, ZNF468, ZNF470, ZNF470-DT, ZNF471, ZNF473, ZNF473CR, ZNF480, ZNF497, ZNF497-AS1, ZNF524, ZNF525, ZNF528, ZNF528-AS1, ZNF530, ZNF534, ZNF543, ZNF544, ZNF547, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF577, ZNF578, ZNF579, ZNF580, ZNF581, ZNF582, ZNF582-DT, ZNF583, ZNF584, ZNF584-DT, ZNF586, ZNF587, ZNF587B, ZNF600, ZNF606, ZNF606-AS1, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF628, ZNF649, ZNF649-AS1, ZNF665, ZNF667, ZNF667-AS1, ZNF671, ZNF677, ZNF701, ZNF71, ZNF71-SMIM17, ZNF749, ZNF761, ZNF765, ZNF765-ZNF761, ZNF766, ZNF772, ZNF773, ZNF776, ZNF784, ZNF787, ZNF8, ZNF8-DT, ZNF8-ERVK3-1, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF845, ZNF865, ZNF880, ZNF888, ZNF888-AS1, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5A-AS1, ZSCAN5B, ZSCAN5C, ZSWIM9, LOC130064955, LOC130064956, LOC130064957, LOC130064958, LOC130064959, LOC130064960, LOC130064961, LOC130064962, LOC130064963, LOC130064964, LOC130064965, LOC130064966, LOC130064967, LOC130064968, LOC130064969, LOC130064970, LOC130064971, LOC130064972, LOC130064973, LOC130064974, LOC130064975, LOC130064976, LOC130064977, LOC130064978, LOC130064979, LOC130064980, LOC130064981, LOC130064982, LOC130064983, LOC130064984, LOC130064985, LOC130064986, LOC130064987, LOC130064988, LOC130064989, LOC130064990, LOC130064991, LOC130064992, LOC130064993, LOC130064994, LOC130064995, LOC130064996, LOC130064997, LOC130064998, LOC130064999, LOC130065000, LOC130065001, LOC130065002, LOC130065003, LOC130065004, LOC130065005, LOC130065006, LOC130065007, LOC130065008, LOC130065009, LOC130065010, LOC130065011, LOC130065012, LOC130065013, LOC130065014, LOC130065015, LOC130065016, LOC130065017, LOC130065018, LOC130065019, LOC130065020, LOC130065021, LOC130065022, LOC130065023, LOC130065024, LOC130065025, LOC130065026, LOC130065027, LOC130065028, LOC130065029, LOC130065030, LOC130065031, LOC130065032, LOC130065033, LOC130065034, LOC130065035, LOC130065036, LOC130065037, LOC130065038, LOC130065039, LOC130065040, LOC130065041, LOC130065042, LOC130065043, LOC130065044, LOC130065045, LOC130065046, LOC130065047, LOC130065048, LOC130065049, LOC130065050, LOC130065051, LOC130065052, LOC130065053, LOC130065054, LOC130065055, LOC130065056, LOC130065057, LOC130065058, LOC130065059, LOC130065060, LOC130065061, LOC130065062, LOC130065063, LOC130065064, LOC130065065, LOC130065066, LOC130065067, LOC130065068, LOC130065069, LOC130065070, LOC130065071, LOC130065072, LOC130065073, LOC130065074, LOC130065075, LOC130065076, LOC130065077, LOC130065078, LOC130065079, LOC130065080, LOC130065081, LOC130065082, LOC130065083, LOC130065084, LOC130065085, LOC130065086, LOC130065087, LOC130065088, LOC130065089, LOC130065090, LOC130065091, LOC130065092, LOC130065093, LOC130065094, LOC130065095, LOC130065096, LOC130065097, LOC130065098, LOC130065099, LOC130065100, LOC130065101, LOC130065102, LOC130065103, LOC130065104, LOC130065105, LOC130065106, LOC130065107, LOC130065108, LOC130065109, LOC130065110, LOC130065111, LOC130065112, LOC130065113, LOC130065114, LOC130065115, LOC130065116, LOC130065117, LOC130065118, LOC130065119, LOC130065120, LOC130065121, LOC130065122, LOC130065123, LOC130065124, LOC130065125, LOC130065126, LOC130065127, LOC130065128, LOC130065129, LOC130065130, LOC130065131, LOC130065132, LOC130065133, LOC130065134, LOC130065135, LOC130065136, LOC130065137, LOC130065138, LOC130065139, LOC130065140, LOC130065141, LOC130065142, LOC130065143, LOC130065144, LOC130065145, LOC130065146, LOC130065147, LOC130065148, LOC130065149, LOC130065150, LOC130065151, LOC130065152, LOC130065153, LOC130065154, LOC130065155, LOC130065156, LOC130065157, LOC130065158, LOC130065159, LOC130065160, LOC130065161, LOC130065162, LOC130065163, LOC130065164, LOC130065165, LOC130065166, LOC130065167, LOC130065168, LOC130065169, LOC130065170, LOC130065171, LOC130065172, LOC130065173, LOC130065174, LOC130065175, LOC130065176, LOC130065177, LOC130065178, LOC130065179, LOC130065180, LOC130065181, LOC130065182, LOC130065183, LOC130065184, LOC130065185, LOC130065186, LOC130065187, LOC130065188, LOC130065189, LOC130065190, LOC130065191, LOC130065192, LOC130065193, LOC130065194, LOC130065195, LOC130065196, LOC130065197, LOC130065198, LOC130065199, LOC130065200, LOC130065201, LOC130065202, LOC130065203, LOC130065204, LOC130065205, LOC130065206, LOC130065207, LOC130065208, LOC130065209, LOC130065210, LOC130065211, LOC130065212, LOC130065213, LOC130065214, LOC130065215, LOC130065216, LOC130065217, LOC130065218, LOC130065219, LOC130065220, LOC130065221, LOC130065222, LOC130065223, LOC130065224, LOC130065225, LOC130065226, LOC130065227, LOC130065228, LOC130065229, LOC130065230, LOC130065231, LOC130065232, LOC130065233, LOC130065234, LOC130065235, LOC132090551, LOC132090554, LOC132090557, LOC132090558, LOC132090559, LOC132090560, LRRC4B, MAMSTR, MBOAT7, MED25, MIMT1, MIR10394, MIR125A, MIR1283-1, MIR1283-2, MIR1323, MIR150, MIR371A, MIR371B, MIR372, MIR373, MIR4324, MIR4749, MIR4750, MIR4751, MIR4752, MIR4754, MIR498, MIR5088, MIR512-1, MIR512-2, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527, MIR643, MIR6798, MIR6799, MIR6800, MIR6801, MIR6802, MIR6803, MIR6804, MIR6805, MIR6806, MIR7975, MIR8061, MIR8074, MIR935, MIR99B, MIRLET7E, MYADM, MYADM-AS1, MYBPC2, MYH14, MYREM, NAPSA, NAT14, NKG7, NCR1, NDUFA3, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOSIP, NR1H2, NTF4, NTN5, NUCB1, NUCB1-AS1, NUP62, ODAD1, OSCAR, PEG3, PEG3-AS1, PIH1D1, PLA2G4C, PLA2G4C-AS1, PLEKHA4, PNKP, POLD1, PPFIA3, PPP1R12C, PPP1R15A, PPP2R1A, PPP6R1, PRKCG, PRMT1, PTH2, PRPF31, PRPF31-AS1, PRR12, PRRG2, PTOV1, PTOV1-AS1, PTOV1-AS2, PTPRH, RASIP1, RCN3, RDH13, RFPL4A, RFPL4AL1, RNF225, RPL13A, RPL18, RPL28, RPS11, RPS5, RPS9, RRAS, RUVBL2, SAXO3, SBK2, SBK3, SCAF1, SHANK1, SHISA7, SIGLEC10, SIGLEC10-AS1, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC16, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SLC17A7, SLC27A5, SLC6A16, SMIM17, SMIM47, SNAR-A1, SNAR-A10, SNAR-A11, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SNAR-D, SNAR-F, SNAR-G1, SNAR-G2, SNORD157, SNORD32A, SNORD33, SNORD34, SNORD35A, SNORD35B, SNORD88A, SNORD88B, SNORD88C, SNRNP70, SPACA4, SPACA6, SPACA6-AS1, SPHK2, SPIB, SSC5D, SULT2B1, SYNGR4, SYT3, SYT5, TARM1, TBC1D17, TEAD2, TFPT, TMC4, TMEM143, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, TRAPPC2B, TRPM4, TSEN34, TSKS, TTYH1, TULP2, U2AF2, UBE2S, USP29, VN1R1, VN1R2, VN1R4, VRK3, VSIG10L, VSIG10L-AS1, VSTM1, A1BG, A1BG-AS1, ACP4, ADM5, AKT1S1, ALDH16A1, AP2A1, ASPDH, ATF5, AURKC, BAX, BCAT2, BCL2L12, BRSK1, BSPH1, C19orf18, C19orf73, C19orf81, C19orf84, C19orf85, CA11, CABP5, CACNG6, CACNG7, CACNG8, CARD8, CARD8-AS1, CCDC106, CD33, CD37, CDC42EP5, CEACAM18, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CLDND2, CLEC11A, CNOT3, COX6B2, CPT1C, CTU1, CYTH2, DBP, DHDH, DKKL1, DNAAF3, DNAAF3-AS1, DPRX, DUXA, EDDM13, ELSPBP1, EMC10, EMP3, EPN1, EPS8L1, ERVFRD-2, ERVK3-1, ERVV-1, ERVV-2, ETFB, FAM83E, FPR1, FCAR, FCGRT, FGF21, FIZ1, FLT3LG, FPR2, FPR3, FTL, FUT1, FUT2, FUZ, GALP, GARIN5A, GARIN5B, GFY, GP6, GPR32, GRIN2D, GRWD1, GYS1, HAS1, HRC, HSD17B14, HSPBP1, IGLON5, IL11, IL4I1, IRF3, ISOC2, IZUMO1, IZUMO2, JOSD2, KASH5, KCNA7, KCNC3, KCNJ14, KDELR1, KLK1, KLK10, KLK11, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KMT5C, LAIR1, LAIR2, LENG1, LENG8, LENG8-AS1, LENG9, LHB, LIG1, LILRA1, LILRA2, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIM2, LIM2-AS1, LIN7B, LINC01530, LINC01864, LINC01869, LINC01872, LINC02560, LMTK3, LOC101928295, LOC101928517, LOC105372430, LOC105372435, LOC105372441, LOC105372480, LOC105447645, LOC106128905, LOC106128906, LOC101928804, LOC107198088, LOC107198089, LOC107983998, LOC109279247, LOC111721713, LOC111811967, LOC111828494, LOC112552168, LOC112552169, LOC112552170, LOC112552171, LOC112552172, LOC112552173, LOC112552177, LOC112552178, LOC112553112, LOC112553113, LOC112553114, LOC112553115, LOC112553116, LOC112553117, LOC112553118, LOC112553119, LOC112577452, LOC112577453, LOC112577454, LOC113939975, LOC116286192, LOC116286193, LOC116286194, LOC116286195, LOC116286196, LOC116286197, LOC117125599, LOC117125600, LOC117125601, LOC117125602, LOC119369027, LOC119369028, LOC119369029, LOC119369030, LOC119369032, LOC119369033, LOC119369034, LOC119369035, LOC119369036, LOC119369037, LOC121627884, LOC121627885, LOC121627886, LOC121627887, LOC121627888, LOC121627889, LOC121852991, LOC121852992, LOC121852993, LOC121852994, LOC122539214, LOC125371542, LOC125371543, LOC125371544, LOC125384522, LOC125384524, LOC125384525, LOC125384526, LOC125384527, LOC125384528, LOC125384529, LOC125384530, LOC125384531, LOC125384532, LOC125384533, LOC125384534, LOC125384535, LOC125384536, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384541, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, LOC125384548, LOC125384549, LOC125384550, LOC125384551, LOC125384552, LOC125384553, LOC126862920, LOC126862921, LOC126862922, LOC126862923, LOC126862924, LOC126862925, LOC126862926, LOC126862927, LOC126862928, LOC126862929, LOC126862930, LOC126862931, LOC126862936, LOC126862937, LOC126862938, LOC126862932, LOC126862935, LOC126862933, LOC126862934, LOC126862939, LOC126862940, LOC126862941, LOC126862942, LOC126862943, LOC126862944, LOC126862945, LOC126862946, LOC126862947, LOC129391131, LOC129391132, LOC129391133, LOC129391134, LOC129391135, LOC129391136, LOC129391137, LOC129391138, LOC129391139, LOC129391140, LOC129391141, LOC129391142, LOC129391143, LOC129391144, LOC129391145, LOC129391146, LOC130064832, LOC130064833, LOC130064834, LOC130064835, LOC130064836, LOC130064837, LOC130064838, LOC130064839, LOC130064840, LOC130064841, LOC130064842, LOC130064843, LOC130064844, LOC130064845, LOC130064846, LOC130064847, LOC130064848, LOC130064849, LOC130064850, LOC130064851, LOC130064852, LOC130064853, LOC130064854, LOC130064855, LOC130064856, LOC130064857, LOC130064858, LOC130064859, LOC130064860, LOC130064861, LOC130064862, LOC130064863, LOC130064864, LOC130064865, LOC130064866, LOC130064867, LOC130064868, LOC130064869, LOC130064870, LOC130064871, LOC130064872, LOC130064873, LOC130064874, LOC130064875, LOC130064876, LOC130064877, LOC130064878, LOC130064879, LOC130064880, LOC130064881, LOC130064882, LOC130064883, LOC130064884, LOC130064885, LOC130064886, LOC130064887, LOC130064888, LOC130064889, LOC130064890, LOC130064891, LOC130064892, LOC130064893, LOC130064894, LOC130064895, LOC130064896, LOC130064897, LOC130064898, LOC130064899, LOC130064900, LOC130064901, LOC130064902, LOC130064903, LOC130064904, LOC130064905, LOC130064906, LOC130064907, LOC130064908, LOC130064909, LOC130064910, LOC130064911, LOC130064912, LOC130064913, LOC130064914, LOC130064915, LOC130064916, LOC130064917, LOC130064918, LOC130064919, LOC130064920, LOC130064921, LOC130064922, LOC130064923, LOC130064924, LOC130064925, LOC130064926, LOC130064927, LOC130064928, LOC130064929, LOC130064930, LOC130064931, LOC130064932, LOC130064933, LOC130064934, LOC130064935, LOC130064936, LOC130064937, LOC130064938, LOC130064939, LOC130064940, LOC130064941, LOC130064942, LOC130064943, LOC130064944, LOC130064945, LOC130064946, LOC130064947, LOC130064948, LOC130064949, LOC130064950, LOC130064951, LOC130064952, LOC130064953, LOC130064954 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:48432832-59083573
- GRCh38:
- Chr19:47929575-58572206
| LOC130064933, LOC130064934, LOC130064935, LOC130064936, LOC130064937, LOC130064938, LOC130064939, LOC130064940, LOC130064941, LOC130064942, LOC130064943, LOC130064944, LOC130064945, LOC130064946, LOC130064947, LOC130064948, LOC130064949, LOC130064950, LOC130064951, LOC130064952, LOC130064953, LOC130064954, LOC130064955, LOC130064956, LOC130064957, LOC130064958, LOC130064959, LOC130064960, LOC130064961, LOC130064962, LOC130064963, LOC130064964, LOC130064965, LOC130064966, LOC130064967, LOC130064968, LOC130064969, LOC130064970, LOC130064971, LOC130064972, LOC130064973, LOC130064974, LOC130064975, LOC130064976, LOC130064977, LOC130064978, LOC130064979, LOC130064980, LOC130064981, LOC130064982, LOC130064983, LOC130064984, LOC130064985, LOC130064986, LOC130064987, LOC130064988, LOC130064989, LOC130064990, LOC130064991, LOC130064992, LOC130064993, LOC130064994, LOC130064995, LOC130064996, LOC130064997, LOC130064998, LOC130064999, LOC130065000, LOC130065001, LOC130065002, LOC130065003, LOC130065004, LOC130065005, LOC130065006, LOC130065007, LOC130065008, LOC130065009, LOC130065010, LOC130065011, LOC130065012, LOC130065013, LOC130065014, LOC130065015, LOC130065016, LOC130065017, LOC130065018, LOC130065019, LOC130065020, LOC130065021, LOC130065022, LOC130065023, LOC130065024, LOC130065025, LOC130065026, LOC130065027, LOC130065028, LOC130065029, LOC130065030, LOC130065031, LOC130065032, LOC130065033, LOC130065034, LOC130065035, LOC130065036, LOC130065037, LOC130065038, LOC130065039, LOC130065040, LOC130065041, LOC130065042, LOC130065043, LOC130065044, LOC130065045, LOC130065046, LOC130065047, LOC130065048, LOC130065049, LOC130065050, LOC130065051, LOC130065052, LOC130065053, LOC130065054, LOC130065055, LOC130065056, LOC130065057, LOC130065058, LOC130065059, LOC130065060, LOC130065061, LOC130065062, LOC130065063, LOC130065064, LOC130065065, LOC130065066, LOC130065067, LOC130065068, LOC130065069, LOC130065070, LOC130065071, LOC130065072, LOC130065073, LOC130065074, LOC130065075, LOC130065076, LOC130065077, LOC130065078, LOC130065079, LOC130065080, LOC130065081, LOC130065082, LOC130065083, LOC130065084, LOC130065085, LOC130065086, LOC130065087, LOC130065088, LOC130065089, LOC130065090, LOC130065091, LOC130065092, LOC130065093, LOC130065094, LOC130065095, LOC130065096, LOC130065097, LOC130065098, LOC130065099, LOC130065100, LOC130065101, LOC130065102, LOC130065103, LOC130065104, LOC130065105, LOC130065106, LOC130065107, LOC130065108, LOC130065109, LOC130065110, LOC130065111, LOC130065112, LOC130065113, LOC130065114, LOC130065115, LOC130065116, LOC130065117, LOC130065118, LOC130065119, LOC130065120, LOC130065121, LOC130065122, LOC130065123, LOC130065124, LOC130065125, LOC130065126, LOC130065127, LOC130065128, LOC130065129, LOC130065130, LOC130065131, LOC130065132, LOC130065133, LOC130065134, LOC130065135, LOC130065136, LOC130065137, LOC130065138, LOC130065139, LOC130065140, LOC130065141, LOC130065142, LOC130065143, LOC130065144, LOC130065145, LOC130065146, LOC130065147, LOC130065148, LOC130065149, LOC130065150, LOC130065151, LOC130065152, LOC130065153, LOC130065154, LOC130065155, LOC130065156, LOC130065157, LOC130065158, LOC130065159, LOC130065160, LOC130065161, LOC130065162, LOC130065163, LOC130065164, LOC130065165, LOC130065166, LOC130065167, LOC130065168, LOC130065169, LOC130065170, LOC130065171, LOC130065172, LOC130065173, LOC130065174, LOC130065175, LOC130065176, LOC130065177, LOC130065178, LOC130065179, LOC130065180, LOC130065181, LOC130065182, LOC130065183, LOC130065184, LOC130065185, LOC130065186, LOC130065187, LOC130065188, LOC130065189, LOC130065190, LOC130065191, LOC130065192, LOC130065193, LOC130065194, LOC130065195, LOC130065196, LOC130065197, LOC130065198, LOC130065199, LOC130065200, LOC130065201, LOC130065202, LOC130065203, LOC130065204, LOC130065205, LOC130065206, LOC130065207, LOC130065208, LOC130065209, LOC130065210, LOC130065211, LOC130065212, LOC130065213, LOC130065214, LOC130065215, LOC130065216, LOC130065217, LOC130065218, LOC130065219, LOC130065220, LOC130065221, LOC130065222, LOC130065223, LOC130065224, LOC130065225, LOC130065226, LOC130065227, LOC130065228, LOC130065229, LOC130065230, LOC130065231, LOC130065232, LOC130065233, LOC130065234, LOC130065235, LOC130065236, LOC130065237, LOC130065238, LOC130065239, LOC130065240, LOC130065241, LOC130065242, LOC130065243, LOC130065244, LOC130065245, LOC132090551, LOC132090554, LOC132090557, LOC132090558, LOC132090559, LOC132090560, LRRC4B, MAMSTR, MBOAT7, MED25, MIMT1, MIR10394, MIR125A, MIR1283-1, MIR1283-2, MIR1323, MIR150, MIR371A, MIR371B, MIR372, MIR373, MIR4324, MIR4749, MIR4750, MIR4751, MIR4752, MIR4754, MIR498, MIR5088, MIR512-1, MIR512-2, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527, MIR643, MIR6798, MIR6799, MIR6800, MIR6801, MIR6802, MIR6803, MIR6804, MIR6805, MIR6806, MIR6807, MIR7975, MIR8061, MIR8074, MIR935, MIR99B, MIRLET7E, MYADM, MYADM-AS1, MYBPC2, MYH14, MYREM, MZF1, MZF1-AS1, NAPSA, NAT14, NCR1, NDUFA3, NKG7, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOSIP, NR1H2, NTF4, NTN5, NUCB1, NUCB1-AS1, NUP62, ODAD1, OSCAR, PEG3, PEG3-AS1, PIH1D1, PLA2G4C, PLA2G4C-AS1, PLEKHA4, PNKP, POLD1, PPFIA3, PPP1R12C, PPP1R15A, PPP2R1A, PPP6R1, PRKCG, PRMT1, PRPF31, PRPF31-AS1, PRR12, PRRG2, PTH2, PTOV1, PTOV1-AS1, PTOV1-AS2, PTPRH, RASIP1, RCN3, RDH13, RFPL4A, RFPL4AL1, RNF225, RPL13A, RPL18, RPL28, RPS11, RPS5, RPS9, RRAS, RUVBL2, SAXO3, SBK2, SBK3, SCAF1, SHANK1, SHISA7, SIGLEC10, SIGLEC10-AS1, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC16, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SLC17A7, SLC27A5, SLC6A16, SMIM17, SMIM47, SNAR-A10, SNAR-A11, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-C1, SNAR-C3, SNAR-C4, SNAR-D, SNAR-F, SNAR-G1, SNAR-G2, SNORD157, SNORD32A, SNORD33, SNORD34, SNORD35A, SNORD35B, SNORD88A, SNORD88B, SNORD88C, SNRNP70, SPACA4, SPACA6, SPACA6-AS1, SPHK2, SPIB, SSC5D, A1BG, A1BG-AS1, ACP4, ADM5, AKT1S1, ALDH16A1, AP2A1, ASPDH, ATF5, AURKC, BAX, BCAT2, BCL2L12, BRSK1, BSPH1, C19orf18, C19orf73, C19orf81, C19orf84, C19orf85, CA11, CABP5, CACNG6, CACNG7, CACNG8, CARD8, CARD8-AS1, CCDC106, CD33, CD37, CDC42EP5, CEACAM18, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CHMP2A, CLDND2, CLEC11A, CYTH2, DBP, CNOT3, COX6B2, CPT1C, CTU1, DHDH, DKKL1, DNAAF3, DNAAF3-AS1, DPRX, DUXA, EDDM13, ELSPBP1, EMC10, EMP3, EPN1, EPS8L1, ERVFRD-2, ERVK3-1, ERVV-1, ERVV-2, ETFB, FAM83E, FCAR, FCGRT, FGF21, FIZ1, FLT3LG, FPR1, FPR2, FPR3, FTL, FUT1, FUT2, FUZ, GALP, GARIN5A, GARIN5B, GFY, HAS1, GP6, GPR32, GRIN2D, GRWD1, GYS1, HRC, HSD17B14, HSPBP1, IGLON5, IL11, IL4I1, IRF3, ISOC2, IZUMO1, IZUMO2, JOSD2, KASH5, KCNA7, KCNC3, KCNJ14, KDELR1, KLK1, KLK10, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KMT5C, LAIR1, LAIR2, LHB, LENG1, LENG8, LENG8-AS1, LENG9, LIG1, LILRA1, LILRA2, LILRA4, LILRB3, LILRA5, LILRA6, LILRB1, LILRB2, LILRB4, LILRB5, LIM2, LIM2-AS1, LIN7B, LINC01530, LINC01864, LINC01869, LINC01872, LINC02560, LMTK3, LOC101928295, LOC101928517, LOC105372430, LOC105372435, LOC105372441, LOC105372480, LOC105447645, LOC106128905, LOC106128906, LOC101928804, LOC107198088, LOC107198089, LOC107983998, LOC109279247, LOC111721713, LOC111811967, LOC111828494, LOC112552168, LOC112552169, LOC112552170, LOC112552171, LOC112552172, LOC112552173, LOC112552177, LOC112552178, LOC112553112, LOC112553113, LOC112553114, LOC112553115, LOC112553116, LOC112553117, LOC112553118, LOC112553119, LOC112577452, LOC112577453, LOC112577454, LOC113939975, LOC116286192, LOC116286193, LOC116286194, LOC116286195, LOC116286196, LOC116286197, LOC117125599, LOC117125600, LOC117125601, LOC117125602, LOC119369027, LOC119369028, LOC119369029, LOC119369030, LOC119369032, LOC119369033, LOC119369034, LOC119369035, LOC119369036, LOC119369037, LOC121627884, LOC121627885, LOC121627886, LOC121627887, LOC121627888, LOC121627889, LOC121852991, LOC121852992, LOC121852993, LOC121852994, LOC122539214, LOC125371542, LOC125371543, LOC125371544, LOC125384522, LOC125384524, LOC125384525, LOC125384526, LOC125384527, LOC125384528, LOC125384529, LOC125384530, LOC125384531, LOC125384532, LOC125384533, LOC125384534, LOC125384535, LOC125384536, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384541, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, LOC125384548, LOC125384549, LOC125384550, LOC125384551, LOC125384552, LOC125384553, LOC126862920, LOC126862921, LOC126862922, LOC126862923, LOC126862924, LOC126862925, LOC126862926, LOC126862927, LOC126862928, LOC126862929, LOC126862930, LOC126862931, LOC126862936, LOC126862937, LOC126862938, LOC126862932, LOC126862935, LOC126862933, LOC126862934, LOC126862939, LOC126862940, LOC126862941, LOC126862942, LOC126862943, LOC126862944, LOC126862945, LOC126862946, LOC126862947, LOC129391131, LOC129391132, LOC129391133, LOC129391134, LOC129391135, LOC129391136, LOC129391137, LOC129391138, LOC129391139, LOC129391140, LOC129391141, LOC129391142, LOC129391143, LOC129391144, LOC129391145, LOC129391146, LOC130064832, LOC130064833, LOC130064834, LOC130064835, LOC130064836, LOC130064837, LOC130064838, LOC130064839, LOC130064840, LOC130064841, LOC130064842, LOC130064843, LOC130064844, LOC130064845, LOC130064846, LOC130064847, LOC130064848, LOC130064849, LOC130064850, LOC130064851, LOC130064852, LOC130064853, LOC130064854, LOC130064855, LOC130064856, LOC130064857, LOC130064858, LOC130064859, LOC130064860, LOC130064861, LOC130064862, LOC130064863, LOC130064864, LOC130064865, LOC130064866, LOC130064867, LOC130064868, LOC130064869, LOC130064870, LOC130064871, LOC130064872, LOC130064873, LOC130064874, LOC130064875, LOC130064876, LOC130064877, LOC130064878, LOC130064879, LOC130064880, LOC130064881, LOC130064882, LOC130064883, LOC130064884, LOC130064885, LOC130064886, LOC130064887, LOC130064888, LOC130064889, LOC130064890, LOC130064891, LOC130064892, LOC130064893, LOC130064894, LOC130064895, LOC130064896, LOC130064897, LOC130064898, LOC130064899, LOC130064900, LOC130064901, LOC130064902, LOC130064903, LOC130064904, LOC130064905, LOC130064906, LOC130064907, LOC130064908, LOC130064909, LOC130064910, LOC130064911, LOC130064912, LOC130064913, LOC130064914, LOC130064915, LOC130064916, LOC130064917, LOC130064918, LOC130064919, LOC130064920, LOC130064921, LOC130064922, LOC130064923, LOC130064924, LOC130064925, LOC130064926, LOC130064927, LOC130064928, LOC130064929, LOC130064930, LOC130064931, LOC130064932, SULT2B1, SYNGR4, SYT3, SYT5, TARM1, TBC1D17, TEAD2, TFPT, TMC4, TMEM143, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, TRAPPC2B, TRIM28, TRPM4, TSEN34, TSKS, TTYH1, TULP2, U2AF2, UBE2M, UBE2S, USP29, VN1R1, VN1R2, VN1R4, VRK3, VSIG10L, VSIG10L-AS1, VSTM1, ZBTB45, ZFP28, ZFP28-DT, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF114, ZNF132, ZNF132-DT, ZNF134, ZNF135, ZNF154, ZNF160, ZNF17, ZNF175, ZNF211, ZNF256, ZNF264, ZNF274, ZNF28, ZNF304, ZNF320, ZNF324, ZNF324B, ZNF329, ZNF331, ZNF347, ZNF350, ZNF350-AS1, ZNF415, ZNF416, ZNF417, ZNF418, ZNF419, ZNF432, ZNF444, ZNF446, ZNF460, ZNF460-AS1, ZNF468, ZNF470, ZNF470-DT, ZNF471, ZNF473, ZNF473CR, ZNF480, ZNF497, ZNF497-AS1, ZNF524, ZNF525, ZNF528, ZNF528-AS1, ZNF530, ZNF534, ZNF543, ZNF544, ZNF547, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF577, ZNF578, ZNF579, ZNF580, ZNF581, ZNF582, ZNF582-DT, ZNF583, ZNF584, ZNF584-DT, ZNF586, ZNF587, ZNF587B, ZNF600, ZNF606, ZNF606-AS1, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF628, ZNF649, ZNF649-AS1, ZNF665, ZNF667, ZNF667-AS1, ZNF671, ZNF677, ZNF701, ZNF71, ZNF71-SMIM17, ZNF749, ZNF761, ZNF765, ZNF765-ZNF761, ZNF766, ZNF772, ZNF773, ZNF776, ZNF784, ZNF787, ZNF8, ZNF8-DT, ZNF8-ERVK3-1, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF845, ZNF865, ZNF880, ZNF888, ZNF888-AS1, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5A-AS1, ZSCAN5B, ZSCAN5C, ZSWIM9 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321510
- GRCh38:
- Chr19:49818253
| MED25 | | not provided | Benign (Feb 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321512
- GRCh38:
- Chr19:49818255
| MED25 | | not provided | Benign (Feb 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321587
- GRCh38:
- Chr19:49818330
| MED25 | | Charcot-Marie-Tooth disease, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, not specified
| Benign (Dec 23, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:50321602
- GRCh38:
- Chr19:49818345
| MED25 | V2L | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease | Uncertain significance (Jun 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:50321606-50321629
- GRCh38:
- Chr19:49818349-49818372
| MED25 | | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321607
- GRCh38:
- Chr19:49818350
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321613
- GRCh38:
- Chr19:49818356
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jul 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321614
- GRCh38:
- Chr19:49818357
| MED25 | E6Q | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321618
- GRCh38:
- Chr19:49818361
| MED25 | G7V | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321621
- GRCh38:
- Chr19:49818364
| MED25 | P8L | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321621
- GRCh38:
- Chr19:49818364
| MED25 | P8Q | not provided | Uncertain significance (Sep 29, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321626
- GRCh38:
- Chr19:49818369
| MED25 | R10C | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321627
- GRCh38:
- Chr19:49818370
| MED25 | R10L | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Dec 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321634
- GRCh38:
- Chr19:49818377
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321656
- GRCh38:
- Chr19:49818399
| MED25 | F20I | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321659
- GRCh38:
- Chr19:49818402
| MED25 | V21M | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321679
- GRCh38:
- Chr19:49818422
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jul 31, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321685
- GRCh38:
- Chr19:49818428
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321691
- GRCh38:
- Chr19:49818434
| MED25 | | Charcot-Marie-Tooth disease, not specified, Charcot-Marie-Tooth disease type 2, not provided | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:50321694
- GRCh38:
- Chr19:49818437
| MED25 | | Charcot-Marie-Tooth disease type 2 | Benign (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321696
- GRCh38:
- Chr19:49818439
| MED25 | E33G | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321697
- GRCh38:
- Chr19:49818440
| MED25 | L35fs | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Apr 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321700
- GRCh38:
- Chr19:49818443
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321700
- GRCh38:
- Chr19:49818443
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321705
- GRCh38:
- Chr19:49818448
| MED25 | R36L | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321705
- GRCh38:
- Chr19:49818448
| MED25 | R36H | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease | Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:50321710
- GRCh38:
- Chr19:49818453
| MED25 | H38Y | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321710
- GRCh38:
- Chr19:49818453
| MED25 | H38N | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321712
- GRCh38:
- Chr19:49818455
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jul 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321714
- GRCh38:
- Chr19:49818457
| MED25 | Y39C | Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | Pathogenic (Jun 1, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr19:50321715
- GRCh38:
- Chr19:49818458
| MED25 | Y39* | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Mar 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321722
- GRCh38:
- Chr19:49818465
| MED25 | P42S | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321723
- GRCh38:
- Chr19:49818466
| MED25 | P42L | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321729
- GRCh38:
- Chr19:49818472
| MED25 | I44S | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321740
- GRCh38:
- Chr19:49818483
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Sep 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321746
- GRCh38:
- Chr19:49818489
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321749
- GRCh38:
- Chr19:49818492
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321751
- GRCh38:
- Chr19:49818494
| MED25 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321752
- GRCh38:
- Chr19:49818495
| MED25 | | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease | Likely benign (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:50321811
- GRCh38:
- Chr19:49818554
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (May 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321813
- GRCh38:
- Chr19:49818556
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321814
- GRCh38:
- Chr19:49818557
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Nov 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321819
- GRCh38:
- Chr19:49818562
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321822
- GRCh38:
- Chr19:49818565
| MED25 | | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, not specified, not provided | Conflicting interpretations of pathogenicity (May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:50321823
- GRCh38:
- Chr19:49818566
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321824
- GRCh38:
- Chr19:49818567
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321825
- GRCh38:
- Chr19:49818568
| MED25 | | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, not provided
| Uncertain significance (Jan 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:50321827
- GRCh38:
- Chr19:49818570
| MED25 | | Charcot-Marie-Tooth disease | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321831
- GRCh38:
- Chr19:49818574
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Sep 30, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321832-50321836
- GRCh38:
- Chr19:49818575-49818579
| MED25 | F47fs | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Nov 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321838
- GRCh38:
- Chr19:49818581
| MED25 | G49R | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321838
- GRCh38:
- Chr19:49818581
| MED25 | G49C | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321843
- GRCh38:
- Chr19:49818586
| MED25 | | not provided | Likely benign (Dec 20, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321844
- GRCh38:
- Chr19:49818587
| MED25 | P51S | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease | Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:50321858
- GRCh38:
- Chr19:49818601
| MED25 | | not provided, Charcot-Marie-Tooth disease type 2, not specified, Charcot-Marie-Tooth disease | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:50321861
- GRCh38:
- Chr19:49818604
| MED25 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321863
- GRCh38:
- Chr19:49818606
| MED25 | F57C | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321863
- GRCh38:
- Chr19:49818606
| MED25 | F57S | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321867
- GRCh38:
- Chr19:49818610
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Dec 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321890
- GRCh38:
- Chr19:49818633
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Mar 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50321981
- GRCh38:
- Chr19:49818724
| MED25 | | not provided | Benign (Jun 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322100
- GRCh38:
- Chr19:49818843
| MED25 | | not provided | Benign (Jun 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322111
- GRCh38:
- Chr19:49818854
| MED25 | | not provided | Benign (Jun 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322409
- GRCh38:
- Chr19:49819152
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322416
- GRCh38:
- Chr19:49819159
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322421
- GRCh38:
- Chr19:49819164
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322422
- GRCh38:
- Chr19:49819165
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Oct 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322425
- GRCh38:
- Chr19:49819168
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Oct 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322431-50322432
- GRCh38:
- Chr19:49819174-49819175
| MED25 | T64fs | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322434
- GRCh38:
- Chr19:49819177
| MED25 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322437
- GRCh38:
- Chr19:49819180
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322448
- GRCh38:
- Chr19:49819191
| MED25 | S67T | Inborn genetic diseases | Uncertain significance (Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322461
- GRCh38:
- Chr19:49819204
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Mar 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322476
- GRCh38:
- Chr19:49819219
| MED25 | | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, not provided
| Likely benign (Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:50322477
- GRCh38:
- Chr19:49819220
| MED25 | A77P | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322480
- GRCh38:
- Chr19:49819223
| MED25 | P78A | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322482
- GRCh38:
- Chr19:49819225
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322482
- GRCh38:
- Chr19:49819225
| MED25 | | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, not provided
| Benign (Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:50322483
- GRCh38:
- Chr19:49819226
| MED25 | E79K | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322491
- GRCh38:
- Chr19:49819234
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Nov 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322495
- GRCh38:
- Chr19:49819238
| MED25 | Q83E | Charcot-Marie-Tooth disease, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
| Uncertain significance (Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:50322496
- GRCh38:
- Chr19:49819239
| MED25 | Q83R | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322497
- GRCh38:
- Chr19:49819240
| MED25 | Q83H | not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease
| Uncertain significance (Apr 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:50322503
- GRCh38:
- Chr19:49819246
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322507
- GRCh38:
- Chr19:49819250
| MED25 | P87A | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322521
- GRCh38:
- Chr19:49819264
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Jul 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322523
- GRCh38:
- Chr19:49819266
| MED25 | Y92C | Neurodevelopmental disorder | Uncertain significance (Oct 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322523
- GRCh38:
- Chr19:49819266
| MED25 | Y92F | Charcot-Marie-Tooth disease type 2, not specified | Likely benign (Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:50322527-50322528
- GRCh38:
- Chr19:49819270-49819271
| MED25 | V95fs | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Sep 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322531
- GRCh38:
- Chr19:49819274
| MED25 | V95I | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322534
- GRCh38:
- Chr19:49819277
| MED25 | T96A | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322535
- GRCh38:
- Chr19:49819278
| MED25 | T96S | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322536
- GRCh38:
- Chr19:49819279
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Nov 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322540
- GRCh38:
- Chr19:49819283
| MED25 | L98F | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322542
- GRCh38:
- Chr19:49819285
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (May 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322542
- GRCh38:
- Chr19:49819285
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322543
- GRCh38:
- Chr19:49819286
| MED25 | D99N | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:50322567
- GRCh38:
- Chr19:49819310
| MED25 | | Charcot-Marie-Tooth disease type 2 | Likely benign (May 27, 2022) | criteria provided, single submitter |