| | | Single nucleotide variant (missense variant) | Congenital myopathy 2c, severe infantile, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Actin accumulation myopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 2c, severe infantile, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 2c, severe infantile, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Actin accumulation myopathy | |
| | | Single nucleotide variant (nonsense) | Actin accumulation myopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 2c, severe infantile, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 2c, severe infantile, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Actin accumulation myopathy | |
| | | Single nucleotide variant (missense variant) | Actin accumulation myopathy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Actin accumulation myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 2c, severe infantile, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Actin accumulation myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 2c, severe infantile, autosomal dominant +1 more | GPathogenic/Likely pathogenic |