| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (5 prime UTR variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (intron variant) | Long QT syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | Limb-Girdle Muscular Dystrophy, Dominant +6 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +8 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +3 more | |
Click to view in NCBI Gene