| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Indel (inframe_indel +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 14 +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene