| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC109611589, RUNX2 (Q57* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (nonsense) | Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome +1 more | |
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