Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Microcytic anemia +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | 3-Methylglutaconic aciduria | |
Click to view in NCBI Gene