| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene