| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion +1 more) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Cardiovascular phenotype +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene