| | AIFM1, RAB33A (F227I +2 more) | Single nucleotide variant (missense variant +2 more) | Spondyloepimetaphyseal dysplasia, Bieganski type | |
| | AIFM1, RAB33A (G244S +1 more) | Single nucleotide variant (missense variant +1 more) | Spondyloepimetaphyseal dysplasia, Bieganski type | |
| | AIFM1, RAB33A (L213V +1 more) | Single nucleotide variant (missense variant +1 more) | Spondyloepimetaphyseal dysplasia, Bieganski type | |
| | AIFM1, RAB33A (E250K +1 more) | Single nucleotide variant (missense variant +1 more) | Spondyloepimetaphyseal dysplasia, Bieganski type | |
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, Bieganski type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe X-linked mitochondrial encephalomyopathy +6 more | |
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, Bieganski type | |
| | AIFM1, RAB33A (Q235H +1 more) | Single nucleotide variant (missense variant +1 more) | Spondyloepimetaphyseal dysplasia, Bieganski type | |
| | AIFM1, RAB33A (D237G +1 more) | Single nucleotide variant (missense variant +1 more) | Spondyloepimetaphyseal dysplasia, Bieganski type | |
| | AIFM1, RAB33A (I561V +2 more) | Single nucleotide variant (missense variant +2 more) | Deafness, X-linked 5 +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth Neuropathy X +7 more | |
| | RAB33A, AIFM1 (A549V +2 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe X-linked mitochondrial encephalomyopathy +6 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +8 more | |
| | LOC130068679, RAB33A +1 more (P35S) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease X-linked recessive 4 +6 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Severe X-linked mitochondrial encephalomyopathy +8 more | |