| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Sclerosteosis 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Cenani-Lenz syndactyly syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 17 +2 more | |
Click to view in NCBI Gene