| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Tip-toe gait +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | SH3TC2-Related Disorders | |
| | | Deletion (frameshift variant) | SH3TC2-Related Disorders +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene