| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | 3-Methylglutaconic aciduria type 2 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | 3-Methylglutaconic aciduria type 2 | |
Click to view in NCBI Gene