| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Deletion (intron variant) | TIA1-related disorder +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | TIA1-related disorder +1 more | |
Click to view in NCBI Gene