| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +25 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related craniosynostosis +12 more | GPathogenic/Likely pathogenic |
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