| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Abnormality of the musculature +5 more | |
Click to view in NCBI Gene