| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CACNA2D2, LOC127898564 (L1124F +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | CYB561D2, CACNA2D2
+2 more (D687E +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
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