| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 1A +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Deletion (intron variant) | not provided +6 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
Click to view in NCBI Gene