| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Perrault syndrome 1 | |
| | | Insertion (splice donor variant) | Perrault syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Perrault syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome +3 more | |
| | | Duplication (frameshift variant +1 more) | Bifunctional peroxisomal enzyme deficiency +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Perrault syndrome 1 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Perrault syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Bifunctional peroxisomal enzyme deficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Perrault syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Perrault syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Perrault syndrome 1 +1 more | |
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