| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic right ventricular dysplasia 5 +5 more | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 7, autosomal dominant +2 more | |
Click to view in NCBI Gene