| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Senior-Loken syndrome 4 +3 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | Primary dilated cardiomyopathy +2 more | |
Click to view in NCBI Gene