Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +14 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | not provided +15 more | GPathogenic/Likely pathogenic |
| | | Translocation | Short philtrum +28 more | |
| | | Single nucleotide variant (missense variant) | KCNQ1-Related Disorders +23 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene