| | | Single nucleotide variant (missense variant +1 more) | Uruguay Faciocardiomusculoskeletal syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | X-linked myopathy with postural muscle atrophy +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked myopathy with postural muscle atrophy +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked myopathy with postural muscle atrophy +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy, reducing body, X-linked, childhood-onset +4 more | |
| | | Duplication (frameshift variant +1 more) | Myopathy, reducing body, X-linked, childhood-onset +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Uruguay Faciocardiomusculoskeletal syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Uruguay Faciocardiomusculoskeletal syndrome +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (intron variant) | Myopathy, reducing body, X-linked, childhood-onset +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | X-linked scapuloperoneal muscular dystrophy +4 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Uruguay Faciocardiomusculoskeletal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy, reducing body, X-linked, childhood-onset +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | X-linked myopathy with postural muscle atrophy +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (intron variant) | X-linked myopathy with postural muscle atrophy +5 more | |