| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | FKRP-related disorder +20 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene