| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (no sequence alteration +1 more) | Congenital myasthenic syndrome 10 +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
Click to view in NCBI Gene