Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_021783 | Disease | p.ALA600THR | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_021784 | Disease | p.ALA630THR | Nonaka myopathy (NM) |
Swiss-Prot | VAR_017962 | Disease | p.ALA631THR | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_017955 | Disease | p.ALA460VAL | Nonaka myopathy (NM) |
Swiss-Prot | VAR_017956 | Disease | p.ALA524VAL | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_017963 | Disease | p.ALA631VAL | Nonaka myopathy (NM) |
Swiss-Prot | VAR_021773 | Disease | p.ARG162CYS | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_021776 | Disease | p.ARG177CYS | Nonaka myopathy (NM) |
Swiss-Prot | VAR_017948 | Disease | p.ARG246GLN | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_017951 | Disease | p.ARG266GLN | Sialuria (SIALURIA) |
Swiss-Prot | VAR_021779 | Disease | p.ARG306GLN | Nonaka myopathy (NM) |
Swiss-Prot | VAR_017950 | Disease | p.ARG263LEU | Sialuria (SIALURIA) |
Swiss-Prot | VAR_017949 | Disease | p.ARG246TRP | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_017952 | Disease | p.ARG266TRP | Sialuria (SIALURIA) |
Swiss-Prot | VAR_021782 | Disease | p.ASN519SER | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_017947 | Disease | p.ASP225ASN | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_017954 | Disease | p.ASP378TYR | Nonaka myopathy (NM) |
Swiss-Prot | VAR_021775 | Disease | p.ASP176VAL | Nonaka myopathy (NM) |
Swiss-Prot | VAR_017953 | Disease | p.CYS303VAL | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_017960 | Disease | p.GLY576GLU | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_021777 | Disease | p.GLY206SER | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_021772 | Disease | p.HIS132GLN | Nonaka myopathy (NM) |
Swiss-Prot | VAR_017946 | Disease | p.ILE200PHE | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_021781 | Disease | p.ILE472THR | Nonaka myopathy (NM) |
Swiss-Prot | VAR_017958 | Disease | p.ILE557THR | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_017961 | Disease | p.ILE587THR | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_017966 | Disease | p.MET712THR | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_021774 | Disease | p.MET171VAL | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_017957 | Disease | p.PHE528CYS | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_017945 | Disease | p.PRO36LEU | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_021771 | Disease | p.PRO27SER | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_017964 | Disease | p.TYR675HIS | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_021778 | Disease | p.VAL216ALA | Inclusion body myopathy 2 (IBM2) |
Swiss-Prot | VAR_021780 | Disease | p.VAL331ALA | Nonaka myopathy (NM) |
Swiss-Prot | VAR_017959 | Disease | p.VAL572LEU | Nonaka myopathy (NM) |
Swiss-Prot | VAR_017965 | Disease | p.VAL696MET | Inclusion body myopathy 2 (IBM2) |
OMIM | 603824.0007 | Disease | p.ALA600THR | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE |
OMIM | 603824.0012 | Disease | p.ALA429VAL | NONAKA MYOPATHY |
OMIM | 603824.0015 | Disease | p.ALA600VAL | NONAKA MYOPATHY |
OMIM | 603824.0010 | Disease | p.ARG215GLN | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE |
OMIM | 603824.0002 | Disease | p.ARG235GLN | SIALURIA |
OMIM | 603824.0003 | Disease | p.ARG232LEU | SIALURIA |
OMIM | 603824.0001 | Disease | p.ARG235TRP | SIALURIA |
OMIM | 603824.0011 | Disease | p.ASP194ASN | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE |
OMIM | 603824.0009 | Disease | p.CYS272TER | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE |
OMIM | 603824.0014 | Disease | p.CYS272VAL | NONAKA MYOPATHY |
OMIM | 603824.0006 | Disease | p.GLY545GLU | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE |
OMIM | 603824.0005 | Disease | p.MET681THR | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE||NONAKA MYOPATHY, INCLUDED |
OMIM | 603824.0016 | Disease | p.MET140VAL | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE |
OMIM | 603824.0013 | Disease | p.VAL541LEU | NONAKA MYOPATHY |
OMIM | 603824.0008 | Disease | p.VAL665MET | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE |