| | | Deletion | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Deletion | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Microsatellite (inframe_deletion) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (splice acceptor variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Deletion (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Duplication | not provided | |
| | | Deletion | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Deletion (inframe_deletion) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Deletion (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | LOC130009747, SUCLA2 (N18K) | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Deletion (inframe_deletion) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |