| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cardiomyopathy +5 more | |
| | | Single nucleotide variant | Mitochondrial disease +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene