| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Megaconial type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Megaconial type congenital muscular dystrophy | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene