| | LOC112340388, LOC112441449 +821 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058195, LOC130058196 +556 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058340, LOC130058341 +925 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | C16orf90, CLUAP1 +101 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Insertion (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Deletion (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Deletion (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Deletion (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Deletion (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acute febrile neutrophilic dermatosis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Acute febrile neutrophilic dermatosis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant) | Autoinflammatory syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial Mediterranean fever, autosomal dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (nonsense +1 more) | not specified +1 more | |
| | | Duplication (frameshift variant +1 more) | Familial Mediterranean fever | |
| | | Deletion (3 prime UTR variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Autoinflammatory syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Acute febrile neutrophilic dermatosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial Mediterranean fever | |
| | | Deletion (frameshift variant +1 more) | Familial Mediterranean fever +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoinflammatory syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial Mediterranean fever +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Acute febrile neutrophilic dermatosis +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (synonymous variant +1 more) | Acute febrile neutrophilic dermatosis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial Mediterranean fever | |
| | | Insertion (nonsense +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Acute febrile neutrophilic dermatosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Acute febrile neutrophilic dermatosis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Autoinflammatory syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | MEFV-related condition +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |