Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | Abnormal peripheral nervous system morphology | |
| | | Single nucleotide variant (missense variant +1 more) | Alzheimer disease type 1 +20 more | GPathogenic/Pathogenic, low penetrance; other; risk factor |
Click to view in NCBI Gene