| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant +1 more) | 46,XX ovarian dysgenesis-short stature syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | 46,XX ovarian dysgenesis-short stature syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Non-obstructive azoospermia +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene