| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Alzheimer disease type 1 +20 more | GPathogenic/Pathogenic, low penetrance; other; risk factor |
| | | Single nucleotide variant (nonsense) | Intellectual disability +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene