| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (nonsense) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | GPathogenic/Likely pathogenic |
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