| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Gastrointestinal stromal tumor +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1GG +6 more | |
| | | Deletion (frameshift variant) | Mitochondrial complex II deficiency, nuclear type 1 +2 more | |
Click to view in NCBI Gene