| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +20 more | GPathogenic/Likely pathogenic |
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