Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_031892 | Disease | p.ALA221THR | Dejerine-Sottas syndrome (DSS) |
Swiss-Prot | VAR_004518 | Disease | p.ARG98CYS | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004519 | Disease | p.ARG98HIS | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004545 | Polymorphism | p.ARG244LEU | N/A |
Swiss-Prot | VAR_004520 | Disease | p.ARG98PRO | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_054398 | Disease | p.ARG227SER | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004521 | Disease | p.ARG98SER | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004526 | Disease | p.ASN116HIS | Dejerine-Sottas syndrome (DSS) |
Swiss-Prot | VAR_015978 | Disease | p.ASN131LYS | Roussy-Levy syndrome (ROULS) |
Swiss-Prot | VAR_004528 | Disease | p.ASN122SER | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_031889 | Disease | p.ASP109ASN | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_021609 | Disease | p.ASP118ASN | Charcot-Marie-Tooth disease 2I (CMT2I) |
Swiss-Prot | VAR_004533 | Disease | p.ASP128ASN | Dejerine-Sottas syndrome (DSS) |
Swiss-Prot | VAR_004537 | Disease | p.ASP134ASN | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004532 | Disease | p.ASP128GLU | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004536 | Disease | p.ASP134GLU | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004515 | Disease | p.ASP90GLU | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_029979 | Disease | p.ASP134GLY | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_031885 | Polymorphism | p.ASP61GLY | N/A |
Swiss-Prot | VAR_029972 | Disease | p.ASP60HIS | Charcot-Marie-Tooth disease 2I (CMT2I) |
Swiss-Prot | VAR_054397 | Disease | p.ASP224TYR | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_015971 | Disease | p.ASP35TYR | Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID) |
Swiss-Prot | VAR_015973 | Disease | p.ASP75VAL | Charcot-Marie-Tooth disease 2J (CMT2J) |
Swiss-Prot | VAR_004531 | Disease | p.CYS127TYR | Dejerine-Sottas syndrome (DSS) |
Swiss-Prot | VAR_054396 | Polymorphism | p.GLU56LYS | N/A |
Swiss-Prot | VAR_029975 | Disease | p.GLU97VAL | Charcot-Marie-Tooth disease 2J (CMT2J) |
Swiss-Prot | VAR_004543 | Disease | p.GLY167ALA | Dejerine-Sottas syndrome (DSS) |
Swiss-Prot | VAR_004542 | Disease | p.GLY163ARG | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004544 | Disease | p.GLY167ARG | Dejerine-Sottas syndrome (DSS) |
Swiss-Prot | VAR_029976 | Disease | p.GLY110ASP | Dejerine-Sottas syndrome (DSS) |
Swiss-Prot | VAR_015977 | Disease | p.GLY123CYS | Dejerine-Sottas syndrome (DSS) |
Swiss-Prot | VAR_015976 | Disease | p.GLY103GLU | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004516 | Disease | p.GLY93GLU | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004540 | Disease | p.GLY137SER | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004513 | Disease | p.HIS81ARG | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_054393 | Disease | p.HIS39PRO | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_031888 | Polymorphism | p.HIS81TYR | N/A |
Swiss-Prot | VAR_015974 | Disease | p.ILE89ASN | Charcot-Marie-Tooth disease 2I (CMT2I) |
Swiss-Prot | VAR_004538 | Disease | p.ILE135LEU | Dejerine-Sottas syndrome (DSS) |
Swiss-Prot | VAR_015980 | Disease | p.ILE162MET | Charcot-Marie-Tooth disease 2I (CMT2I) |
Swiss-Prot | VAR_004500 | Disease | p.ILE30MET | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_029973 | Disease | p.ILE62MET | Charcot-Marie-Tooth disease 2I (CMT2I) |
Swiss-Prot | VAR_015972 | Disease | p.ILE62PHE | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004524 | Disease | p.ILE112THR | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004525 | Disease | p.ILE114THR | Dejerine-Sottas syndrome (DSS) |
Swiss-Prot | VAR_004539 | Disease | p.ILE135THR | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004522 | Disease | p.ILE99THR | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_029985 | Disease | p.LEU170ARG | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004534 | Disease | p.LYS130ARG | Dejerine-Sottas syndrome (DSS) |
Swiss-Prot | VAR_029980 | Disease | p.LYS138ASN | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_021610 | Disease | p.LYS236GLU | Charcot-Marie-Tooth disease 2I (CMT2I) |
Swiss-Prot | VAR_004517 | Disease | p.LYS96GLU | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004535 | Disease | p.PRO132LEU | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004504 | Disease | p.SER54CYS | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004508 | Disease | p.SER63CYS | Dejerine-Sottas syndrome (DSS) |
Swiss-Prot | VAR_004512 | Disease | p.SER78LEU | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004503 | Disease | p.SER44PHE | Charcot-Marie-Tooth disease 2I (CMT2I) |
Swiss-Prot | VAR_029971 | Disease | p.SER51PHE | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004509 | Disease | p.SER63PHE | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004505 | Disease | p.SER54PRO | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_029982 | Disease | p.SER140THR | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_031887 | Disease | p.SER78TRP | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_031886 | Disease | p.THR65ALA | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_029981 | Disease | p.THR139ASN | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004502 | Disease | p.THR34ILE | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_029974 | Disease | p.THR65ILE | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_029978 | Disease | p.THR124LYS | Neuropathy, congenital hypomyelinating or amyelinating (CHN) |
Swiss-Prot | VAR_004529 | Disease | p.THR124MET | Charcot-Marie-Tooth disease 2J (CMT2J) |
Swiss-Prot | VAR_004541 | Disease | p.THR143MET | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004523 | Disease | p.TRP101CYS | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_031891 | Polymorphism | p.TYR119CYS | N/A |
Swiss-Prot | VAR_004511 | Disease | p.TYR68CYS | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004514 | Disease | p.TYR82CYS | Dejerine-Sottas syndrome (DSS) |
Swiss-Prot | VAR_029983 | Disease | p.TYR145SER | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_015979 | Disease | p.VAL136GLU | Dejerine-Sottas syndrome (DSS) |
Swiss-Prot | VAR_029977 | Polymorphism | p.VAL113ILE | N/A |
Swiss-Prot | VAR_015975 | Disease | p.VAL92MET | Charcot-Marie-Tooth disease 2I (CMT2I) |
Swiss-Prot | VAR_031890 | Polymorphism | p.VAL113PHE | N/A |
Swiss-Prot | VAR_029984 | Disease | p.VAL146PHE | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004501 | Disease | p.VAL32PHE | Charcot-Marie-Tooth disease 1B (CMT1B) |
Swiss-Prot | VAR_004506 | Disease | p.VAL58PHE | Charcot-Marie-Tooth disease 1B (CMT1B) |
OMIM | 159440.0010 | Disease | p.ARG98CYS | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B |
OMIM | 159440.0011 | Disease | p.ARG98HIS | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B |
OMIM | 159440.0009 | Disease | p.ARG98PRO | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B |
OMIM | 159440.0021 | Disease | p.ASN131LYS | ROUSSY-LEVY SYNDROME |
OMIM | 159440.0002 | Disease | p.ASP90GLU | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B |
OMIM | 159440.0028 | Disease | p.ASP60HIS | CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I |
OMIM | 159440.0036 | Disease | p.ASP195TYR | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B |
OMIM | 159440.0018 | Disease | p.ASP6TYR | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D |
OMIM | 159440.0019 | Disease | p.ASP75VAL | CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J |
OMIM | 159440.0013 | Disease | p.GLN186TER | NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT |
OMIM | 159440.0030 | Disease | p.GLU97VAL | CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J |
OMIM | 159440.0005 | Disease | p.GLY167ARG | DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT |
OMIM | 159440.0022 | Disease | p.GLY74GLU | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B |
OMIM | 159440.0033 | Disease | p.GLY123SER | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B |
OMIM | 159440.0008 | Disease | p.GLY137SER | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B |
OMIM | 159440.0014 | Disease | p.HIS81ARG | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B |
OMIM | 159440.0029 | Disease | p.ILE62MET | CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I |
OMIM | 159440.0024 | Disease | p.ILE62PHE | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS |
OMIM | 159440.0007 | Disease | p.ILE135THR | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B |
OMIM | 159440.0001 | Disease | p.LYS96GLU | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B |
OMIM | 159440.0034 | Disease | p.PRO105THR | CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J |
OMIM | 159440.0004 | Disease | p.SER63CYS | DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT |
OMIM | 159440.0023 | Disease | p.SER49LEU | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS |
OMIM | 159440.0020 | Disease | p.SER44PHE | CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I |
OMIM | 159440.0012 | Disease | p.SER63PHE | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B |
OMIM | 159440.0031 | Disease | p.THR124LYS | NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT |
OMIM | 159440.0016 | Disease | p.THR124MET | CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, INCLUDED |
OMIM | 159440.0026 | Disease | p.TYR145SER | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B |
OMIM | 159440.0035 | Disease | p.VAL102VAL | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B |