| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability and myopathy syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1O +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene