| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Limb-Girdle Muscular Dystrophy, Dominant +3 more | |
| | MYOT, PKD2L2-DT (A429G +2 more) | Single nucleotide variant (missense variant) | MYOT-related disorder +5 more | GConflicting classifications of pathogenicity |
| | MYOT, PKD2L2-DT (N467K +2 more) | Single nucleotide variant (missense variant) | Limb-Girdle Muscular Dystrophy, Dominant +4 more | |
Click to view in NCBI Gene