| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Medium-chain acyl-coenzyme A dehydrogenase deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Medium-chain acyl-coenzyme A dehydrogenase deficiency | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epileptic spasm +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene