Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability, moderate +14 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, moderate +14 more | |
| | | Deletion (frameshift variant) | Coronary artery atherosclerosis | |
| | | Single nucleotide variant (missense variant) | Coronary artery atherosclerosis +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene