Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Cardiovascular phenotype +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene