| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AIFM1, RAB33A (S193R +2 more) | Single nucleotide variant (missense variant +2 more) | Severe X-linked mitochondrial encephalomyopathy | |
| | AIFM1, RAB33A (R422Q +2 more) | Single nucleotide variant (missense variant +2 more) | Deafness, X-linked 5 +3 more | GPathogenic/Likely pathogenic |
| | AIFM1, RAB33A (R422W +2 more) | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
Click to view in NCBI Gene