| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AIFM1, RAB33A (P165L +1 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X +3 more | GConflicting classifications of pathogenicity |
| | AIFM1, RAB33A (R151Q +1 more) | Single nucleotide variant (missense variant +1 more) | Severe X-linked mitochondrial encephalomyopathy +3 more | |
| | | Microsatellite (inframe_deletion +1 more) | Charcot-Marie-Tooth disease X-linked recessive 4 | |
Click to view in NCBI Gene