| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene