| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant +10 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma +12 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene