| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 19 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 19 | |
Click to view in NCBI Gene