Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Pure gonadal dysgenesis 46,XY | |
| | | Single nucleotide variant (missense variant) | Pure gonadal dysgenesis 46,XY | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
Click to view in NCBI Gene