| | AIFM1, RAB33A (P204L +1 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease X-linked recessive 4 | |
| | AIFM1, RAB33A (D150N +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | AIFM1, RAB33A (A255G +1 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease X-linked recessive 4 | |
| | | Microsatellite (inframe_deletion +1 more) | Charcot-Marie-Tooth disease X-linked recessive 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe X-linked mitochondrial encephalomyopathy +5 more | |
| | AIFM1, RAB33A (V243L +1 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease X-linked recessive 4 +1 more | GConflicting classifications of pathogenicity |
| | AIFM1, RAB33A (T141I +1 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease X-linked recessive 4 | |
| | AIFM1, RAB33A (G262S +1 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease X-linked recessive 4 | |
| | AIFM1, RAB33A (G308E +1 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease X-linked recessive 4 +1 more | GConflicting classifications of pathogenicity |
| | AIFM1, RAB33A (I561V +2 more) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease X-linked recessive 4 +6 more | |
| | RAB33A, AIFM1 (E336K +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Severe X-linked mitochondrial encephalomyopathy +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency +6 more | GConflicting classifications of pathogenicity |
| | AIFM1, RAB33A (M340T +2 more) | Single nucleotide variant (missense variant +3 more) | Foot dorsiflexor weakness +6 more | GPathogenic/Likely pathogenic |
| | RAB33A, AIFM1 (A549V +2 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, Bieganski type +8 more | |
| | AIFM1, RAB33A (R459I +2 more) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease X-linked recessive 4 +3 more | GConflicting classifications of pathogenicity |
| | AIFM1, LOC130068679
+1 more (P35S) | Single nucleotide variant (missense variant +1 more) | not specified +7 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Severe X-linked mitochondrial encephalomyopathy +9 more | |
| | AIFM1, RAB33A (E493V +2 more) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease X-linked recessive 4 | GConflicting classifications of pathogenicity |