| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Lethal multiple pterygium syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 3B | |
| | | Microsatellite (frameshift variant) | Congenital myasthenic syndrome 3B | |
Click to view in NCBI Gene