Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | TTN, TTN-AS1 (T10447R +5 more) | Single nucleotide variant (missense variant) | Premature ventricular contraction | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome and Noonan-related syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Collapse (finding) +1 more | |
| | | Single nucleotide variant (intron variant) | Heart block +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | |
| | TTN, TTN-AS1 (G26298R +5 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +9 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (I23902T +5 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 10 +9 more | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene