Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | B4GALT1, B4GALT1-AS1 (R8W) | Single nucleotide variant (missense variant) | B4GALT1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (nonsense) | B4GALT1-congenital disorder of glycosylation | |
| | B4GALT1, B4GALT1-AS1 (R2T) | Single nucleotide variant (missense variant) | B4GALT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | B4GALT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Duplication (frameshift variant +1 more) | B4GALT1-congenital disorder of glycosylation | |
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