| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (splice acceptor variant) | 3-methylglutaconic aciduria type 1 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | 3-methylglutaconic aciduria type 1 | |
| | | Deletion | not specified | |
Click to view in NCBI Gene