| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HSD17B4, LOC129994460 (G16S) | Single nucleotide variant (missense variant +1 more) | Perrault syndrome 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Bifunctional peroxisomal enzyme deficiency +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Bifunctional peroxisomal enzyme deficiency +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bifunctional peroxisomal enzyme deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
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