| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 42 +1 more | GConflicting classifications of pathogenicity |
| | CACNA1A, LOC130063717 (G2252C +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +1 more | |
Click to view in NCBI Gene