| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 2 +7 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Myocarditis | |
| | | Single nucleotide variant (nonsense +1 more) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Primary dilated cardiomyopathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Primary dilated cardiomyopathy +6 more | |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +2 more | |
| | | Deletion (frameshift variant) | not specified +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene