Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital disorder of glycosylation with defective fucosylation 1 | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of glycosylation with defective fucosylation 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation with defective fucosylation 1 | |
| | | Single nucleotide variant (missense variant +1 more) | FUT8-related disorder +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital disorder of glycosylation with defective fucosylation 1 | |
| | | Single nucleotide variant (nonsense +2 more) | Congenital disorder of glycosylation with defective fucosylation 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital disorder of glycosylation with defective fucosylation 1 +2 more | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of glycosylation with defective fucosylation 1 | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation with defective fucosylation 1 | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation with defective fucosylation 1 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +3 more | |
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