| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | AIFM1, RAB33A (P205L +2 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Charcot-Marie-Tooth Neuropathy X +2 more | |
| | AIFM1, RAB33A (V223A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene