| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (missense variant +2 more) | Acrocephalosyndactyly type I | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related condition +13 more | GPathogenic/Likely pathogenic |
| | | Indel (missense variant +2 more) | Acrocephalosyndactyly type I | |
| | | Single nucleotide variant (missense variant +2 more) | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +14 more | |
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