| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 19 | |
| | | Single nucleotide variant (splice donor variant) | Arrhythmogenic right ventricular cardiomyopathy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Patent ductus arteriosus 2 +1 more | |
| | | Single nucleotide variant | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Arrhythmogenic right ventricular dysplasia 9 +4 more | |
| | | Single nucleotide variant (missense variant) | Warfarin response +1 more | |
Click to view in NCBI Gene