| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | HCN1-related condition +4 more | |
| | | Microsatellite (inframe_deletion) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
Click to view in NCBI Gene