| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inflammatory bowel disease, immunodeficiency, and encephalopathy | |
| | TGFB1, LOC130064510 (R110C) | Single nucleotide variant (missense variant) | Inflammatory bowel disease, immunodeficiency, and encephalopathy | |
| | LOC130064510, TGFB1 (R45C) | Single nucleotide variant (missense variant) | Inflammatory bowel disease, immunodeficiency, and encephalopathy | |
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