| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (inframe_insertion) | Amyloidosis, hereditary systemic 1 | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +6 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Amyloidosis, hereditary systemic 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +12 more | |
| | | Single nucleotide variant (missense variant) | Amyloidosis, hereditary systemic 1 | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene