| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | TTN-AS1, TTN (R20026* +5 more) | Single nucleotide variant (nonsense) | Dilated cardiomyopathy 1G +7 more | GPathogenic/Likely pathogenic |
| | TTN, TTN-AS1 (F11265L +5 more) | Single nucleotide variant (missense variant) | Myopathy, myofibrillar, 9, with early respiratory failure | |
| | TTN, TTN-AS1 (A16625S +5 more) | Single nucleotide variant (missense variant) | Cardiomyopathy +9 more | GConflicting classifications of pathogenicity |
| | LOC126806425, TTN +1 more (I15927V +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Early-onset myopathy with fatal cardiomyopathy +9 more | GConflicting classifications of pathogenicity |
| | LOC126806433, TTN (R2320H +1 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene