| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion | Diamond-Blackfan anemia | |
| | | Duplication | Deficiency of hydroxymethylglutaryl-CoA lyase | |
Click to view in NCBI Gene