| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | 3-methylglutaconic aciduria type 5 | |
| | | Single nucleotide variant (splice acceptor variant) | 3-methylglutaconic aciduria type 5 | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylglutaconic aciduria type 5 | |
| | | Copy number loss | See cases | |
Click to view in NCBI Gene