| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | MYOT, PKD2L2-DT (A429G +2 more) | Single nucleotide variant (missense variant) | Limb-Girdle Muscular Dystrophy, Dominant +5 more | GConflicting classifications of pathogenicity |
| | MYOT, PKD2L2-DT (N467K +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 +4 more | |
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