| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Anemia +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Clubfoot +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Clubfoot | |
| | | Single nucleotide variant (nonsense) | Cystic renal dysplasia +4 more | |
| | | Single nucleotide variant (missense variant) | TNFRSF13B-related disorder +23 more | GConflicting classifications of pathogenicity; risk factor |
Click to view in NCBI Gene