| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYB561D2, LOC127898564
+1 more (P1133L +3 more) | Single nucleotide variant (missense variant) | Cerebellar atrophy with seizures and variable developmental delay +3 more | |
| | LOC127898564, CACNA2D2
+1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | CACNA2D2, CYB561D2
+2 more | Deletion (non-coding transcript variant +1 more) | not provided | |
| | CYB561D2, LOC101928965
+2 more | Single nucleotide variant (non-coding transcript variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | LOC127898564, LOC101928965
+2 more (Q748* +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
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