| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (P12918fs +5 more) | Deletion (non-coding transcript variant +1 more) | Early-onset myopathy with fatal cardiomyopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1G +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Early-onset myopathy with fatal cardiomyopathy | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene