| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Greig cephalopolysyndactyly syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Pallister-Hall syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Greig cephalopolysyndactyly syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Polydactyly +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene