| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Hypertrophic cardiomyopathy 12 +1 more | |
| | | Duplication | Progressive myoclonic epilepsy type 7 | |
Click to view in NCBI Gene