| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital myopathy 20 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 20 +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 20 | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 20 | |
Click to view in NCBI Gene