| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CACNA2D2, LOC101928965 +1 more (V1025L +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | CACNA2D2, LOC101928965 +1 more (P1006S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GConflicting classifications of pathogenicity |
| | 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 |
Click to view in NCBI Gene