| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | Muscular dystrophy, limb-girdle, autosomal dominant 4 | |
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