| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene