| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1O | |
| | | Single nucleotide variant (missense variant +1 more) | Hypertrophic cardiomyopathy +2 more | |
| | | Indel (frameshift variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | ABCC9-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Epicanthus +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1O +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypertrichotic osteochondrodysplasia Cantu type | |
| | | Single nucleotide variant (missense variant) | Hypertrichotic osteochondrodysplasia Cantu type | |
| | | Single nucleotide variant (missense variant) | Hypertrichotic osteochondrodysplasia Cantu type | |
| | | Single nucleotide variant (splice donor variant) | Dilated cardiomyopathy 1O +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hypertrichotic osteochondrodysplasia Cantu type | |
Click to view in NCBI Gene