| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | FLNA, LOC107988032 (E2635K +1 more) | Single nucleotide variant (missense variant) | Frontometaphyseal dysplasia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Heterotopia, periventricular, X-linked dominant +4 more | |
| | | Single nucleotide variant (intron variant) | Connective tissue disorder +12 more | |
Click to view in NCBI Gene