| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | TTN, TTN-AS1 (Q34238* +5 more) | Single nucleotide variant (nonsense) | Early-onset myopathy with fatal cardiomyopathy +14 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (E25514fs +5 more) | Deletion (frameshift variant) | Cardiovascular phenotype +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 (R27105* +5 more) | Single nucleotide variant (nonsense) | Cardiovascular phenotype +4 more | GPathogenic/Likely pathogenic |
| | TTN, TTN-AS1 (R26562* +5 more) | Single nucleotide variant (nonsense) | Primary dilated cardiomyopathy +5 more | GPathogenic/Likely pathogenic |
| | TTN, TTN-AS1 (R23868* +5 more) | Single nucleotide variant (nonsense) | Cardiovascular phenotype +10 more | GPathogenic/Likely pathogenic |
| | TTN, TTN-AS1 (W18000* +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Dilated cardiomyopathy 1G +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more | GPathogenic/Likely pathogenic |
| | LOC101927055, TTN (W1278C +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
Click to view in NCBI Gene