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Items: 1 to 100 of 666

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr19:50321510
GRCh38:
Chr19:49818253
MED25not providedBenign
(Feb 20, 2020)
criteria provided, single submitter
4.
GRCh37:
Chr19:50321512
GRCh38:
Chr19:49818255
MED25not providedBenign
(Feb 20, 2020)
criteria provided, single submitter
5.
GRCh37:
Chr19:50321587
GRCh38:
Chr19:49818330
MED25Charcot-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
6.
GRCh37:
Chr19:50321602
GRCh38:
Chr19:49818345
MED25V2LCharcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth diseaseUncertain significance
(Jun 25, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr19:50321606-50321629
GRCh38:
Chr19:49818349-49818372
MED25Charcot-Marie-Tooth disease type 2Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr19:50321607
GRCh38:
Chr19:49818350
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Oct 7, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr19:50321613
GRCh38:
Chr19:49818356
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Jul 31, 2019)
criteria provided, single submitter
10.
GRCh37:
Chr19:50321614
GRCh38:
Chr19:49818357
MED25E6QCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 16, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr19:50321618
GRCh38:
Chr19:49818361
MED25G7VCharcot-Marie-Tooth disease type 2Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr19:50321621
GRCh38:
Chr19:49818364
MED25P8LCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 24, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr19:50321621
GRCh38:
Chr19:49818364
MED25P8Qnot providedUncertain significance
(Sep 29, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr19:50321626
GRCh38:
Chr19:49818369
MED25R10CCharcot-Marie-Tooth disease type 2Uncertain significance
(Mar 6, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr19:50321627
GRCh38:
Chr19:49818370
MED25R10LCharcot-Marie-Tooth disease type 2Uncertain significance
(Dec 12, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr19:50321634
GRCh38:
Chr19:49818377
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Mar 4, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr19:50321656
GRCh38:
Chr19:49818399
MED25F20ICharcot-Marie-Tooth disease type 2Uncertain significance
(Mar 13, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr19:50321659
GRCh38:
Chr19:49818402
MED25V21MCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr19:50321679
GRCh38:
Chr19:49818422
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Jul 31, 2020)
criteria provided, single submitter
20.
GRCh37:
Chr19:50321685
GRCh38:
Chr19:49818428
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Feb 23, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr19:50321691
GRCh38:
Chr19:49818434
MED25Charcot-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
22.
GRCh37:
Chr19:50321694
GRCh38:
Chr19:49818437
MED25Charcot-Marie-Tooth disease type 2Benign
(Mar 4, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr19:50321696
GRCh38:
Chr19:49818439
MED25E33GCharcot-Marie-Tooth disease type 2Uncertain significance
(Oct 8, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr19:50321697
GRCh38:
Chr19:49818440
MED25L35fsCharcot-Marie-Tooth disease type 2Uncertain significance
(Apr 26, 2019)
criteria provided, single submitter
25.
GRCh37:
Chr19:50321700
GRCh38:
Chr19:49818443
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Oct 10, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr19:50321700
GRCh38:
Chr19:49818443
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Aug 31, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr19:50321705
GRCh38:
Chr19:49818448
MED25R36LCharcot-Marie-Tooth disease type 2Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr19:50321705
GRCh38:
Chr19:49818448
MED25R36HCharcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth diseaseUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr19:50321710
GRCh38:
Chr19:49818453
MED25H38YCharcot-Marie-Tooth disease type 2Uncertain significance
(Jul 5, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr19:50321710
GRCh38:
Chr19:49818453
MED25H38NCharcot-Marie-Tooth disease type 2Uncertain significance
(Feb 20, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr19:50321712
GRCh38:
Chr19:49818455
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Jul 30, 2019)
criteria provided, single submitter
32.
GRCh37:
Chr19:50321714
GRCh38:
Chr19:49818457
MED25Y39CCongenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndromePathogenic
(Jun 1, 2015)
no assertion criteria provided
33.
GRCh37:
Chr19:50321715
GRCh38:
Chr19:49818458
MED25Y39*Charcot-Marie-Tooth disease type 2Uncertain significance
(Mar 6, 2020)
criteria provided, single submitter
34.
GRCh37:
Chr19:50321722
GRCh38:
Chr19:49818465
MED25P42SCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr19:50321723
GRCh38:
Chr19:49818466
MED25P42LCharcot-Marie-Tooth diseaseUncertain significancecriteria provided, single submitter
36.
GRCh37:
Chr19:50321729
GRCh38:
Chr19:49818472
MED25I44SCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 14, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr19:50321740
GRCh38:
Chr19:49818483
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Sep 25, 2019)
criteria provided, single submitter
38.
GRCh37:
Chr19:50321746
GRCh38:
Chr19:49818489
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Jun 13, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr19:50321749
GRCh38:
Chr19:49818492
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Aug 10, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr19:50321751
GRCh38:
Chr19:49818494
MED25Charcot-Marie-Tooth diseaseLikely benigncriteria provided, single submitter
41.
GRCh37:
Chr19:50321752
GRCh38:
Chr19:49818495
MED25Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth diseaseLikely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr19:50321811
GRCh38:
Chr19:49818554
MED25Charcot-Marie-Tooth disease type 2Likely benign
(May 8, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr19:50321813
GRCh38:
Chr19:49818556
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Jul 13, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr19:50321814
GRCh38:
Chr19:49818557
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Nov 27, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr19:50321819
GRCh38:
Chr19:49818562
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Jul 15, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr19:50321822
GRCh38:
Chr19:49818565
MED25Inborn 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
47.
GRCh37:
Chr19:50321823
GRCh38:
Chr19:49818566
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Mar 19, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr19:50321824
GRCh38:
Chr19:49818567
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Jul 26, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr19:50321825
GRCh38:
Chr19:49818568
MED25Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, not provided
Uncertain significance
(Jan 26, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr19:50321827
GRCh38:
Chr19:49818570
MED25Charcot-Marie-Tooth diseaseLikely pathogeniccriteria provided, single submitter
51.
GRCh37:
Chr19:50321831
GRCh38:
Chr19:49818574
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Sep 30, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr19:50321832-50321836
GRCh38:
Chr19:49818575-49818579
MED25F47fsCharcot-Marie-Tooth disease type 2Uncertain significance
(Nov 14, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr19:50321838
GRCh38:
Chr19:49818581
MED25G49RCharcot-Marie-Tooth disease type 2Uncertain significance
(Apr 18, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr19:50321838
GRCh38:
Chr19:49818581
MED25G49CCharcot-Marie-Tooth disease type 2Uncertain significance
(Jul 5, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr19:50321843
GRCh38:
Chr19:49818586
MED25not providedLikely benign
(Dec 20, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr19:50321844
GRCh38:
Chr19:49818587
MED25P51SCharcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth diseaseLikely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr19:50321858
GRCh38:
Chr19:49818601
MED25not provided, Charcot-Marie-Tooth disease type 2, not specified,
Charcot-Marie-Tooth disease
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr19:50321861
GRCh38:
Chr19:49818604
MED25Charcot-Marie-Tooth diseaseLikely benigncriteria provided, single submitter
59.
GRCh37:
Chr19:50321863
GRCh38:
Chr19:49818606
MED25F57CCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 22, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr19:50321863
GRCh38:
Chr19:49818606
MED25F57SCharcot-Marie-Tooth disease type 2Uncertain significance
(Jul 6, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr19:50321867
GRCh38:
Chr19:49818610
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Dec 1, 2020)
criteria provided, single submitter
62.
GRCh37:
Chr19:50321890
GRCh38:
Chr19:49818633
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Mar 26, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr19:50321981
GRCh38:
Chr19:49818724
MED25not providedBenign
(Jun 16, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr19:50322100
GRCh38:
Chr19:49818843
MED25not providedBenign
(Jun 16, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr19:50322111
GRCh38:
Chr19:49818854
MED25not providedBenign
(Jun 16, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr19:50322409
GRCh38:
Chr19:49819152
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Mar 8, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr19:50322416
GRCh38:
Chr19:49819159
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Jun 14, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr19:50322421
GRCh38:
Chr19:49819164
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Aug 10, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr19:50322422
GRCh38:
Chr19:49819165
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Oct 29, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr19:50322425
GRCh38:
Chr19:49819168
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Oct 4, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr19:50322431-50322432
GRCh38:
Chr19:49819174-49819175
MED25T64fsCharcot-Marie-Tooth disease type 2Uncertain significance
(Feb 10, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr19:50322434
GRCh38:
Chr19:49819177
MED25Charcot-Marie-Tooth diseaseLikely benigncriteria provided, single submitter
73.
GRCh37:
Chr19:50322437
GRCh38:
Chr19:49819180
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Aug 23, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr19:50322448
GRCh38:
Chr19:49819191
MED25S67TInborn genetic diseasesUncertain significance
(Mar 29, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr19:50322461
GRCh38:
Chr19:49819204
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Mar 26, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr19:50322476
GRCh38:
Chr19:49819219
MED25Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, not provided
Likely benign
(Apr 1, 2023)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr19:50322477
GRCh38:
Chr19:49819220
MED25A77PCharcot-Marie-Tooth disease type 2Uncertain significance
(Jun 26, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr19:50322480
GRCh38:
Chr19:49819223
MED25P78ACharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr19:50322482
GRCh38:
Chr19:49819225
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Jul 30, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr19:50322482
GRCh38:
Chr19:49819225
MED25Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, not provided
Benign
(Oct 22, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr19:50322483
GRCh38:
Chr19:49819226
MED25E79KCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr19:50322491
GRCh38:
Chr19:49819234
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Nov 5, 2020)
criteria provided, single submitter
83.
GRCh37:
Chr19:50322495
GRCh38:
Chr19:49819238
MED25Q83ECharcot-Marie-Tooth disease, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
Uncertain significance
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr19:50322496
GRCh38:
Chr19:49819239
MED25Q83RCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 13, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr19:50322497
GRCh38:
Chr19:49819240
MED25Q83Hnot provided, Inborn genetic diseases, Charcot-Marie-Tooth disease
Uncertain significance
(Apr 7, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr19:50322503
GRCh38:
Chr19:49819246
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Aug 23, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr19:50322507
GRCh38:
Chr19:49819250
MED25P87ACharcot-Marie-Tooth disease type 2Uncertain significance
(Apr 1, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr19:50322521
GRCh38:
Chr19:49819264
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Jul 1, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr19:50322523
GRCh38:
Chr19:49819266
MED25Y92CNeurodevelopmental disorderUncertain significance
(Oct 29, 2020)
criteria provided, single submitter
90.
GRCh37:
Chr19:50322523
GRCh38:
Chr19:49819266
MED25Y92FCharcot-Marie-Tooth disease type 2, not specifiedLikely benign
(Oct 10, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr19:50322527-50322528
GRCh38:
Chr19:49819270-49819271
MED25V95fsCharcot-Marie-Tooth disease type 2Uncertain significance
(Sep 1, 2020)
criteria provided, single submitter
92.
GRCh37:
Chr19:50322531
GRCh38:
Chr19:49819274
MED25V95ICharcot-Marie-Tooth disease type 2Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr19:50322534
GRCh38:
Chr19:49819277
MED25T96ACharcot-Marie-Tooth disease type 2Uncertain significance
(Jul 26, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr19:50322535
GRCh38:
Chr19:49819278
MED25T96SCharcot-Marie-Tooth disease type 2Uncertain significance
(Oct 25, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr19:50322536
GRCh38:
Chr19:49819279
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Nov 25, 2020)
criteria provided, single submitter
96.
GRCh37:
Chr19:50322540
GRCh38:
Chr19:49819283
MED25L98FCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr19:50322542
GRCh38:
Chr19:49819285
MED25Charcot-Marie-Tooth disease type 2Likely benign
(May 15, 2020)
criteria provided, single submitter
98.
GRCh37:
Chr19:50322542
GRCh38:
Chr19:49819285
MED25Charcot-Marie-Tooth disease type 2Likely benign
(Oct 17, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr19:50322543
GRCh38:
Chr19:49819286
MED25D99NCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr19:50322567
GRCh38:
Chr19:49819310
MED25Charcot-Marie-Tooth disease type 2Likely benign
(May 27, 2022)
criteria provided, single submitter
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