| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +8 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +5 more | |
| | | Single nucleotide variant (missense variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +5 more | GConflicting classifications of pathogenicity |
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