| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC130009747, SUCLA2 (L16V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Deletion | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Deletion | Retinoblastoma | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | SUCLA2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SUCLA2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SUCLA2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SUCLA2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SUCLA2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SUCLA2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SUCLA2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SUCLA2-related disorder | |
| | | Copy number loss | not provided | |
| | | 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 | |
| | LOC130009747, SUCLA2 (R26Q) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | SUCLA2-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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 (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +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 | |