| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 +1 more | |
| | MYOT, PKD2L2-DT (I150T +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +2 more | |
| | MYOT, PKD2L2-DT (L171F +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | MYOT, PKD2L2-DT (T333I +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 +2 more | |
Click to view in NCBI Gene