| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Deletion (inframe_deletion) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
Click to view in NCBI Gene