| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | NOD2-related disorder | |
| | CYLD-AS1, NOD2 (L1039F +1 more) | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Blau syndrome +1 more | |
| | CYLD-AS1, NOD2 (V1028A +1 more) | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | CYLD-AS1, NOD2 (L1040I +1 more) | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | NOD2, CYLD-AS1 (A1000fs +1 more) | Deletion (non-coding transcript variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CYLD-AS1, NOD2 (N965S +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome | |
| | CYLD-AS1, NOD2 (N1010S +1 more) | Single nucleotide variant (missense variant +1 more) | NOD2-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Blau syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (intron variant) | Blau syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Blau syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Blau syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Blau syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Blau syndrome +1 more | |
| | CYLD-AS1, NOD2 (I986T +1 more) | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | CYLD-AS1, NOD2 (A979P +1 more) | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | CYLD-AS1, NOD2 (L1004H +1 more) | Single nucleotide variant (missense variant +1 more) | Regional enteritis +2 more | |
| | | Deletion (frameshift variant +1 more) | Blau syndrome | |
| | CYLD-AS1, NOD2 (D1008N +1 more) | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +1 more | |
| | NOD2, CYLD-AS1 (T969I +1 more) | Single nucleotide variant (missense variant +1 more) | Blau syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Regional enteritis +2 more | |
| | CYLD-AS1, NOD2 (V1001I +1 more) | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | CYLD-AS1, NOD2 (R1009G +1 more) | Single nucleotide variant (missense variant +1 more) | Autoinflammatory syndrome +2 more | |
| | CYLD-AS1, NOD2 (L1018F +1 more) | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | CYLD-AS1, NOD2 (R992G +1 more) | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Yao syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | CYLD-AS1, NOD2 (I968T +1 more) | Single nucleotide variant (missense variant +1 more) | Blau syndrome +2 more | |
| | CYLD-AS1, NOD2 (R992L +1 more) | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | CYLD-AS1, NOD2 (R992Q +1 more) | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | CYLD-AS1, NOD2 (L980F +1 more) | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | CYLD-AS1, NOD2 (L1004V +1 more) | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoinflammatory syndrome +2 more | |
| | CYLD-AS1, NOD2 (A973T +1 more) | Single nucleotide variant (missense variant +1 more) | Blau syndrome +2 more | |
| | CYLD-AS1, NOD2 (G972A +1 more) | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Blau syndrome +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +2 more | |
| | | Duplication (3 prime UTR variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inflammatory bowel disease 1 +2 more | GConflicting classifications of pathogenicity |
| | CYLD-AS1, NOD2 (G1032S +1 more) | Single nucleotide variant (missense variant +1 more) | Regional enteritis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Behcet disease | |
| | | Single nucleotide variant (missense variant +1 more) | Behcet disease | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Blau syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome | |
| | NOD2, CYLD-AS1 (R1019* +1 more) | Single nucleotide variant (nonsense +1 more) | Blau syndrome | |
| | | Single nucleotide variant (intron variant) | Blau syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome | |
| | | Single nucleotide variant (intron variant) | Blau syndrome | |