| | EDDM3B, EFCAB11 +3282 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | PSEN1-related disorder +5 more | |
| | | Deletion | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided +6 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | Dilated Cardiomyopathy, Dominant +1 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | Dilated Cardiomyopathy, Dominant +1 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | Dilated Cardiomyopathy, Dominant +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Alzheimer disease 3 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dilated cardiomyopathy 1U +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dilated cardiomyopathy 1U +1 more | |
| | | Single nucleotide variant (intron variant) | Alzheimer disease 3 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1U +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Duplication (intron variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia +1 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Acne inversa, familial, 3 +4 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | PSEN1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia +3 more | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 3 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Acne inversa, familial, 3 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | PSEN1-related disorder | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (nonsense) | Alzheimer disease 3 | |
| | | Deletion (inframe_indel) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Mental deterioration +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 3 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia +4 more | |
| | | Single nucleotide variant (missense variant) | Acne inversa, familial, 3 +4 more | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Acne inversa, familial, 3 +3 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia | |
| | | Single nucleotide variant (synonymous variant) | Alzheimer disease 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +3 more | |