| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Baller-Gerold syndrome | |
| | | Single nucleotide variant (synonymous variant) | Baller-Gerold syndrome | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Rothmund-Thomson syndrome type 2 +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene