| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 13 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 13 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +2 more | GPathogenic/Likely pathogenic |
| | DPAGT1, LOC126861360 (G63S) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | DPAGT1, LOC126861360 (S5L) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
Click to view in NCBI Gene