| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant +2 more) | Severe X-linked mitochondrial encephalomyopathy +8 more | |
| | AIFM1, RAB33A (I561V +2 more) | Single nucleotide variant (missense variant +2 more) | Deafness, X-linked 5 +6 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth Neuropathy X +7 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +8 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe X-linked mitochondrial encephalomyopathy +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X +6 more | GConflicting classifications of pathogenicity |
| | LOC130068679, RAB33A +1 more (P35S) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease X-linked recessive 4 +6 more | |
Click to view in NCBI Gene