| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | FANCD2, LOC107303338 (S126G) | Single nucleotide variant (missense variant) | Fanconi anemia | |
| | FANCD2, LOC107303338 (R302W) | Single nucleotide variant (missense variant) | Fanconi anemia +1 more | GPathogenic/Likely pathogenic |
| | FANCD2, LOC107303338 (Q320*) | Single nucleotide variant (nonsense) | Fanconi anemia +1 more | |
Click to view in NCBI Gene