Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 47 +2 more | |
| | | Microsatellite (inframe_deletion) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +5 more | GPathogenic/Likely pathogenic |
| | | Deletion | Early onset epileptic encephalopathy | |
Click to view in NCBI Gene