| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | GConflicting classifications of pathogenicity |
| | ALG1, EEF2KMT (Q325* +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | ALG1-congenital disorder of glycosylation | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene