| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SLC35D2-HSD17B3, HSD17B3 (G126R) | Single nucleotide variant (non-coding transcript variant +1 more) | Testosterone 17-beta-dehydrogenase deficiency | |
| | | Deletion (inframe_deletion) | Testosterone 17-beta-dehydrogenase deficiency | |
| | HSD17B3, SLC35D2-HSD17B3 (R80W) | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene