| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | TTN, TTN-AS1 (E25514fs +5 more) | Deletion (frameshift variant) | Proximal lower limb amyotrophy +12 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (C31712R +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +5 more | GPathogenic/Likely pathogenic |
| | TTN, TTN-AS1 (R23868* +5 more) | Single nucleotide variant (nonsense) | Primary dilated cardiomyopathy +10 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene