| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Pure gonadal dysgenesis 46,XY | |
| | | Single nucleotide variant (missense variant +1 more) | CHD7-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Polydactyly | |
Click to view in NCBI Gene