| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Inflammatory bowel disease 1 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inflammatory bowel disease 1 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Yao syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoinflammatory syndrome +6 more | |
Click to view in NCBI Gene