| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant nonsyndromic hearing loss 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dilated cardiomyopathy 1J +2 more | |
Click to view in NCBI Gene