| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +1 more) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever +24 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene