| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Cardiomyopathy +5 more | |
| | LOC126859827, TAB2 (R347* +1 more) | Single nucleotide variant (nonsense) | Rectal prolapse +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Hereditary palmoplantar keratoderma +1 more | |
Click to view in NCBI Gene