| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Amyloidosis, hereditary systemic 1 +6 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene