| | | Duplication (frameshift variant) | Proximal myopathy with extrapyramidal signs | |
| | | Single nucleotide variant (missense variant) | Proximal myopathy with extrapyramidal signs +2 more | |
| | | Single nucleotide variant (intron variant) | Proximal myopathy with extrapyramidal signs | |
| | | Deletion | Proximal myopathy with extrapyramidal signs | |
| | | Single nucleotide variant (missense variant +1 more) | Proximal myopathy with extrapyramidal signs +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Proximal myopathy with extrapyramidal signs | |
| | | Single nucleotide variant (nonsense) | Proximal myopathy with extrapyramidal signs | |
| | | Deletion (frameshift variant) | Proximal myopathy with extrapyramidal signs | |
| | | Single nucleotide variant (nonsense) | Proximal myopathy with extrapyramidal signs | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided | GPathogenic/Likely pathogenic |
| | | Duplication | Proximal myopathy with extrapyramidal signs | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Proximal myopathy with extrapyramidal signs | |
| | | Single nucleotide variant (missense variant) | Proximal myopathy with extrapyramidal signs +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Proximal myopathy with extrapyramidal signs +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Proximal myopathy with extrapyramidal signs +1 more | |