Links from Orgtrack
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation 1 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
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