| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital heart defects, multiple types, 2 +1 more | |
| | LOC126859827, TAB2 (R227* +1 more) | Single nucleotide variant (nonsense) | Encephalopathy +3 more | GPathogenic/Likely pathogenic |
| | LOC126859827, TAB2 (A480G +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
Click to view in NCBI Gene