| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC127898564, CACNA2D2
+1 more (Q934R +2 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | GConflicting classifications of pathogenicity |
| | CACNA2D2, LOC101928965
+1 more (R828C +2 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cerebellar atrophy with seizures and variable developmental delay | |
| | | Single nucleotide variant (splice donor variant) | Cerebellar atrophy with seizures and variable developmental delay | |
| | | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GConflicting classifications of pathogenicity |
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