| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy with fiber type disproportion +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Eichsfeld type congenital muscular dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +2 more | |
Click to view in NCBI Gene