| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC109611589, RUNX2 (Q57* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
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