Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Myocarditis | |
| | | Deletion (frameshift variant) | Dilated cardiomyopathy 1HH +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +2 more | |
| | | Microsatellite (frameshift variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Cardiomyopathy +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Myocarditis +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Adrenoleukodystrophy +4 more | |
| | | Single nucleotide variant (nonsense) | Primary dilated cardiomyopathy +6 more | |
| | | Deletion (frameshift variant) | not specified +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +4 more | GConflicting classifications of pathogenicity |
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