Links from MedGen
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Crohn disease | |
| | | Duplication (3 prime UTR variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Crohn disease +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +4 more | |
| | | Deletion (5 prime UTR variant +1 more) | Crohn disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inflammatory bowel disease 1 +6 more | GConflicting classifications of pathogenicity; association |
| | CYLD-AS1, NOD2 (L980fs +1 more) | Duplication | Yao syndrome +6 more | GConflicting classifications of pathogenicity; association |
Click to view in NCBI Gene