| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYB561D2, LOC101928965
+2 more (P1006S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | LOC127898564, CACNA2D2
+2 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | CACNA2D2, CYB561D2
+2 more | Single nucleotide variant (intron variant) | CACNA2D2-related disorder | |
Click to view in NCBI Gene