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