| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2T | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene