| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (splice donor variant) | FOLR1-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Cerebral folate transport deficiency | |
Click to view in NCBI Gene