| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +2 more) | not provided +2 more | |
| | | Duplication (frameshift variant +1 more) | Progressive familial heart block type IB +1 more | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Progressive familial heart block type IB +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial heart block type IB +1 more | |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
Click to view in NCBI Gene