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