| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | X-linked myopathy with postural muscle atrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Uruguay Faciocardiomusculoskeletal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (splice donor variant +1 more) | X-linked myopathy with postural muscle atrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Hypertrophic cardiomyopathy | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Duplication | X-linked myopathy with postural muscle atrophy | |
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