| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | TGFB3-related condition +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene