| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex I deficiency, nuclear type 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (intron variant) | Cerebral creatine deficiency syndrome +5 more | |
Click to view in NCBI Gene