Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_065122 | Disease | p.ARG110HIS | Mitochondrial DNA depletion syndrome 8B (MTDPS8B) |
Swiss-Prot | VAR_065123 | Disease | p.ARG121HIS | Mitochondrial DNA depletion syndrome 8B (MTDPS8B) |
Swiss-Prot | VAR_046222 | Disease | p.CYS236PHE | Mitochondrial DNA depletion syndrome 8A (MTDPS8A) |
Swiss-Prot | VAR_046219 | Disease | p.GLU194GLY | Mitochondrial DNA depletion syndrome 8A (MTDPS8A) |
Swiss-Prot | VAR_046220 | Disease | p.GLU194LYS | Mitochondrial DNA depletion syndrome 8A (MTDPS8A) |
Swiss-Prot | VAR_046221 | Disease | p.ILE224SER | Mitochondrial DNA depletion syndrome 8A (MTDPS8A) |
Swiss-Prot | VAR_046224 | Disease | p.LEU317VAL | Mitochondrial DNA depletion syndrome 8A (MTDPS8A) |
Swiss-Prot | VAR_046223 | Disease | p.MET282ILE | Mitochondrial DNA depletion syndrome 8A (MTDPS8A) |
Swiss-Prot | VAR_046217 | Disease | p.TRP64ARG | Mitochondrial DNA depletion syndrome 8A (MTDPS8A) |
Swiss-Prot | VAR_025699 | Polymorphism | p.VAL115LEU | N/A |
OMIM | 604712.0008 | Disease | p.ARG38HIS | MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) |
OMIM | 604712.0009 | Disease | p.ARG49HIS | MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) |
OMIM | 604712.0006 | Disease | p.ARG255TER | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 5 |
OMIM | 604712.0005 | Disease | p.CYS164PHE | MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH||RENAL TUBULOPATHY) |
OMIM | 604712.0001 | Disease | p.GLN212TER | MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH||RENAL TUBULOPATHY) |
OMIM | 604712.0003 | Disease | p.GLU122LYS | MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH||RENAL TUBULOPATHY) |
OMIM | 604712.0013 | Disease | p.GLY201SER | VARIANT OF UNKNOWN SIGNIFICANCE |
OMIM | 604712.0007 | Disease | p.GLY157VAL | MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH||RENAL TUBULOPATHY) |
OMIM | 604712.0012 | Disease | p.PHE130LEU | VARIANT OF UNKNOWN SIGNIFICANCE |
OMIM | 604712.0014 | Disease | p.PRO1SER | VARIANT OF UNKNOWN SIGNIFICANCE |