| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | Congenital myopathy with internal nuclei and atypical cores | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myopathy with internal nuclei and atypical cores | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myopathy with internal nuclei and atypical cores | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
Click to view in NCBI Gene