Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 55 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 55 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 55 +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene