| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | TONSL-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Sponastrime dysplasia | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Sponastrime dysplasia | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene