| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HSD17B4, LOC129994460 (V11fs) | Duplication (frameshift variant +2 more) | Bifunctional peroxisomal enzyme deficiency | |
| | HSD17B4, LOC129994460 (G16S) | Single nucleotide variant (missense variant +1 more) | HSD17B4-Related Disorders +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Bifunctional peroxisomal enzyme deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bifunctional peroxisomal enzyme deficiency +1 more | GConflicting classifications of pathogenicity |
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