| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Sponastrime dysplasia | |
| | | Single nucleotide variant (missense variant) | Sponastrime dysplasia | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Sponastrime dysplasia | |
| | | 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 (nonsense) | Skeletal dysplaisia with extra-skeletal manifestations | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | TONSL-related condition | |
| | | Deletion (frameshift variant) | Sponastrime dysplasia | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Sponastrime dysplasia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | TONSL-related condition | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Sponastrime dysplasia | |
| | | Single nucleotide variant (nonsense) | TONSL-related condition | |
| | | Single nucleotide variant (intron variant) | Sponastrime dysplasia | |
Click to view in NCBI Gene