| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Acne inversa, familial, 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Acne inversa, familial, 3 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 | |
| | | Single nucleotide variant (missense variant) | Pick disease | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia +4 more | |
| | | Single nucleotide variant (missense variant) | Acne inversa, familial, 3 +3 more | |
| | | Deletion (splice acceptor variant +1 more) | Alzheimer disease 4 | |
| | | Single nucleotide variant (missense variant) | Pick disease +3 more | |
| | | Single nucleotide variant (missense variant) | Acne inversa, familial, 3 +4 more | |
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