| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | ALG1, EEF2KMT (E285D +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
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