| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Myopathy, congenital, with structured cores and z-line abnormalities | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | Dilated cardiomyopathy 1AA | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1AA | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Dilated cardiomyopathy 1AA +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1AA | |
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