| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Epileptic spasm +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene