| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, Bieganski type +2 more | GConflicting classifications of pathogenicity |
| | RAB33A, AIFM1 (A549V +2 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | AIFM1, RAB33A (M340T +2 more) | Single nucleotide variant (missense variant +3 more) | not provided +6 more | GPathogenic/Likely pathogenic |
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