| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (R129W +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +6 more | GConflicting classifications of pathogenicity |
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