| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Rothmund-Thomson syndrome type 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Rothmund-Thomson syndrome type 2 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Baller-Gerold syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Baller-Gerold syndrome +4 more | |
| | | Single nucleotide variant (nonsense) | Baller-Gerold syndrome +1 more | |
Click to view in NCBI Gene