Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 2 | |
| | TTN-AS1, TTN (E25243* +5 more) | Single nucleotide variant (nonsense) | Left ventricular noncompaction 2 | |
| | TTN, TTN-AS1 (T33352M +5 more) | Single nucleotide variant (missense variant) | Left ventricular noncompaction 2 +3 more | GConflicting classifications of pathogenicity |
| | LOC126806427, TTN (R12540fs +5 more) | Duplication (frameshift variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene