| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | BACE2-related disorder +1 more | |
| | BACE2, LOC126653380 (A410T +1 more) | Single nucleotide variant (missense variant +1 more) | BACE2-related disorder | |
| | BACE2, LOC126653380 (V478I +1 more) | Single nucleotide variant (missense variant +1 more) | BACE2-related disorder +1 more | |
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