| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Lethal tight skin contracture syndrome +20 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Distal myopathy with posterior leg and anterior hand involvement +5 more | |
| | | Single nucleotide variant (synonymous variant) | Hypertrophic cardiomyopathy +9 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Atrial septal defect 2 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Brugada syndrome +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Primary dilated cardiomyopathy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | TXNRD2-related condition +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene