| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | not provided | |
| | | Indel (frameshift variant) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (splice donor variant) | Cardiovascular phenotype +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
Click to view in NCBI Gene