| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Pyknodysostosis +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Pyknodysostosis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Pyknodysostosis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Pyknodysostosis +1 more | |
| | | Single nucleotide variant (missense variant) | Pyknodysostosis | |
| | | Single nucleotide variant (missense variant) | Pyknodysostosis +2 more | |
Click to view in NCBI Gene