| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia +2 more | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +2 more | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia +2 more | |
Click to view in NCBI Gene