| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +13 more | |
Click to view in NCBI Gene