| | 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) | Perrault syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Bifunctional peroxisomal enzyme deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Perrault syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | HSD17B4-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Bifunctional peroxisomal enzyme deficiency +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Perrault syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Bifunctional peroxisomal enzyme deficiency +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Perrault syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Perrault syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Indel (frameshift variant) | not provided | |
| | | Copy number gain | not provided | |