| | | Duplication | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Copy number loss | See cases | |
| | LOC130059125, LOC130059126 +675 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Blau syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (5 prime UTR variant +1 more) | Crohn disease +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inflammatory bowel disease 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autoinflammatory syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autoinflammatory syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Deletion (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) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +2 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 | |
| | | Duplication (inframe_insertion +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +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 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (intron variant) | Blau syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Regional enteritis +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Regional enteritis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +2 more | |
| | | 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 (synonymous variant +1 more) | Inflammatory bowel disease 1 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Blau syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +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 (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) | 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) | Regional enteritis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +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 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Regional enteritis +1 more | |
| | | 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) | Regional enteritis +1 more | |
| | | Duplication (inframe_insertion +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (nonsense +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 | |
| | | Single nucleotide variant (missense 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 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome | |
| | | 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) | Regional enteritis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoinflammatory syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript 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) | 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 | |