Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | 46,XX sex reversal 1 | |
| | | Copy number gain | 46,XX sex reversal 1 | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Single nucleotide variant (nonsense) | 46,XX sex reversal 1 +1 more | |
Click to view in NCBI Gene