| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Yao syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Yao syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Regional enteritis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoinflammatory syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inflammatory bowel disease 1 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Yao syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inflammatory bowel disease 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autoinflammatory syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autoinflammatory syndrome +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autoinflammatory syndrome +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inflammatory bowel disease 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Yao syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Yao syndrome +6 more | GConflicting classifications of pathogenicity; association |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +7 more | GConflicting classifications of pathogenicity; association |
| | CYLD-AS1, NOD2 (L980fs +1 more) | Duplication | Crohn disease +6 more | GConflicting classifications of pathogenicity; association |