Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NDE1, MYH11 (D1461H +1 more) | Single nucleotide variant (missense variant +1 more) | Mitral regurgitation +4 more | |
| | | Inversion | Cardiac arrhythmia +12 more | |
| | | Translocation | Isolated Pierre-Robin syndrome +14 more | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | Pulmonary valve atresia +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene