| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +2 more) | Severe X-linked mitochondrial encephalomyopathy +9 more | |
| | AIFM1, RAB33A (L607Q +2 more) | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases | |
| | AIFM1, RAB33A (I561V +2 more) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease X-linked recessive 4 +6 more | |
| | AIFM1, RAB33A (E533K +2 more) | Single nucleotide variant (missense variant +2 more) | not provided +4 more | |
| | AIFM1, RAB33A (E346K +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Severe X-linked mitochondrial encephalomyopathy +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth disease +5 more | |
| | AIFM1, RAB33A (L111F +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency +4 more | GConflicting classifications of pathogenicity |
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