| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | HSD17B3, SLC35D2-HSD17B3 (R80Q) | Single nucleotide variant (missense variant) | Testosterone 17-beta-dehydrogenase deficiency +1 more | |
| | HSD17B3, SLC35D2-HSD17B3 (N74T) | Single nucleotide variant (missense variant) | Testosterone 17-beta-dehydrogenase deficiency +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene