Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant) | Familial cold autoinflammatory syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Recurrent fever +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | MEFV-related disorder +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene