| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 +1 more | |
| | | Copy number loss | Alopecia +4 more | |
Click to view in NCBI Gene