Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Right ventricular cardiomyopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Right ventricular cardiomyopathy +1 more | |
| | | Single nucleotide variant (missense variant) | DSP-related condition +9 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene