| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Lethal congenital glycogen storage disease of heart +1 more | |
| | | Single nucleotide variant (missense variant) | Lethal congenital glycogen storage disease of heart +2 more | |
| | | Single nucleotide variant (missense variant) | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene