| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +4 more | |
| | | Deletion (splice acceptor variant) | not provided | |
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