| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SEPN1-Related Disorders +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Eichsfeld type congenital muscular dystrophy | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital myopathy with fiber type disproportion +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene