| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type III +5 more | |
| | FLNB, FLNB-AS1 (L2427V +3 more) | Single nucleotide variant (missense variant) | Larsen syndrome +2 more | |
Click to view in NCBI Gene