| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | FLNA, LOC107988032 (V2616M +1 more) | Single nucleotide variant (missense variant) | Frontometaphyseal dysplasia +6 more | |
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