Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type iit | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type iit | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type iit | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type iit +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type iit | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type iit | |
| | | Duplication (nonsense) | Congenital disorder of glycosylation, type iit | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of glycosylation, type iit +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of glycosylation, type iit | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type iit | |
| | | Single nucleotide variant (synonymous variant) | GALNT2-related disorder +2 more | |
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