| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AIFM1, RAB33A (F227I +2 more) | Single nucleotide variant (missense variant +2 more) | Spondyloepimetaphyseal dysplasia, Bieganski type | |
| | AIFM1, RAB33A (V419I +2 more) | Single nucleotide variant (missense variant +2 more) | Severe X-linked mitochondrial encephalomyopathy | |
| | RAB33A, AIFM1 (Q328E +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | Deafness, X-linked 5 | |
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