| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | B4GALT1-congenital disorder of glycosylation +1 more | |
| | B4GALT1, B4GALT1-AS1 (R8W) | Single nucleotide variant (missense variant) | B4GALT1-congenital disorder of glycosylation | |
| | | Copy number gain | not provided | |
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