| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | PSEN1-related disorder +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 3 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Dilated cardiomyopathy 1U +4 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +7 more | |
| | | Single nucleotide variant (missense variant) | Lipoprotein glomerulopathy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 1 +7 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +8 more | |
| | | Single nucleotide variant (missense variant) | Lipoprotein glomerulopathy +7 more | |
| | | Single nucleotide variant (missense variant) | Familial type 3 hyperlipoproteinemia +8 more | |
Click to view in NCBI Gene