| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (stop lost +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more | GConflicting classifications of pathogenicity |
| | CRPPA-AS1, CRPPA (E396* +2 more) | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +3 more | |
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