| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HSD17B4, LOC129994460 (G16S) | Single nucleotide variant (missense variant +1 more) | HSD17B4-related disorder +4 more | GConflicting classifications of pathogenicity |
| | HSD17B4, LOC129994460 (G18V) | Single nucleotide variant (missense variant +2 more) | Bifunctional peroxisomal enzyme deficiency | |
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