| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +4 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided +4 more | |
| | | Deletion (splice donor variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene