| 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 (missense variant) | Perrault syndrome 1 +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Bifunctional peroxisomal enzyme deficiency | |
Click to view in NCBI Gene