| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | Congenital myopathy 4A, autosomal dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 4A, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Congenital myopathy 4A, autosomal dominant +2 more | |
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