| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | 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 (missense variant +1 more) | NOD2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication | Chromosome 16q12 duplication syndrome | |
| | | Indel (missense variant +1 more) | not provided | |
| | | Duplication | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | NOD2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | NOD2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | NOD2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (intron variant) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | CYLD-AS1, NOD2 (L1039F +1 more) | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (synonymous 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) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (intron variant) | Regional enteritis +1 more | |
| | | Duplication (frameshift variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (intron variant) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (intron variant) | Regional enteritis +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (intron variant) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (intron variant) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (intron variant) | Regional enteritis +1 more | |
| | | Indel (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (intron variant) | Regional enteritis +1 more | |
| | | Indel (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +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 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Blau syndrome +1 more | |