| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Isovaleryl-CoA dehydrogenase deficiency | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion +1 more) | Isovaleryl-CoA dehydrogenase deficiency | |
Click to view in NCBI Gene