| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (splice donor variant) | Eichsfeld type congenital muscular dystrophy | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Congenital myopathy 4A, autosomal dominant +2 more | |
Click to view in NCBI Gene