| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | RFLNA, ZNF664-RFLNA (L162fs +1 more) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
Click to view in NCBI Gene