| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Polydactyly, postaxial, type A1 | |
| | | Single nucleotide variant (missense variant) | Polydactyly, postaxial, type A1 | |
| | | Single nucleotide variant (missense variant) | Pallister-Hall syndrome | |
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