| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
Click to view in NCBI Gene