Links from MedGen
Items: 16
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | Long QT syndrome | |
| | | Deletion (splice acceptor variant +1 more) | Prolonged QT interval | |
| | | Microsatellite (inframe_indel +1 more) | Long QT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Prolonged QT interval | |
| | | Single nucleotide variant (missense variant) | Prolonged QT interval +2 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 10 +7 more | |
| | | Single nucleotide variant (missense variant) | Prolonged QT interval | |
| | LOC110121269, SCN5A (E955fs) | Microsatellite (frameshift variant) | Sudden cardiac death +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Prolonged QT interval | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (missense variant) | Prolonged QT interval +2 more | |
| | LOC130057222, TPM1 +1 more (G3R) | Single nucleotide variant (non-coding transcript variant +2 more) | Ventricular fibrillation +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Obesity +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiac arrhythmia +5 more | |
Click to view in NCBI Gene