| | | Copy number gain | See cases | |
| | LOC126806029, LOC129932471 +720 more | Copy number loss | Orofacial cleft 2 | |
| | | Copy number gain | See cases | |
| | LOC129932493, LOC129932494 +1325 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ACBD3, ACBD3-AS1 +287 more | Copy number loss | See cases | |
| | LOC129932930, LOC129932931 +967 more | Copy number gain | See cases | |
| | LOC129932702, LOC129932703 +954 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932675, LOC129932676 +952 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932697, LOC129932698 +309 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | Early-onset autosomal dominant Alzheimer disease +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dilated cardiomyopathy 1V +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Dilated cardiomyopathy 1V +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dilated cardiomyopathy 1V +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dilated cardiomyopathy 1V +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dilated cardiomyopathy 1V +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Alzheimer disease 4 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dilated cardiomyopathy 1V +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dilated cardiomyopathy 1V +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dilated cardiomyopathy 1V +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dilated cardiomyopathy 1V +1 more | |
| | LOC129388763, LOC129932680 +1 more | Deletion | Alzheimer disease 4 | |
| | | Single nucleotide variant (missense variant +1 more) | PSEN2-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 +1 more | |
| | | Indel (missense variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | PSEN2-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (nonsense) | not specified | |
| | | Single nucleotide variant (intron variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Alzheimer disease 4 +2 more | |
| | | Single nucleotide variant (intron variant) | Alzheimer disease 4 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (intron variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (missense variant) | PSEN2-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (missense variant) | PSEN2-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 4 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1V | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 4 | |
| | | Indel (missense variant) | Alzheimer disease 4 | |
| | | Inversion (missense variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 4 +1 more | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | PSEN2-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1V +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |