| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 13 | |
| | DPAGT1, LOC126861360 (G63S) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene