Links from Orgtrack
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inflammatory skin and bowel disease, neonatal, 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autoinflammation with arthritis and vasculitis +1 more | |
| | | Single nucleotide variant (missense variant) | Recombinase activating gene 1 deficiency | |
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