| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | BACE2, LOC126653380 (N507S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BACE2, LOC126653380 (V456I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BACE2, LOC126653380 (R445W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BACE2, LOC126653380 (V438F +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BACE2, LOC126653380 (S427T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | PLAC4-related disorder | |
| | BACE2, LOC126653380 (A410T +1 more) | Single nucleotide variant (missense variant +1 more) | BACE2-related disorder | |
| | BACE2, LOC126653380 (P466R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BACE2, LOC126653380 (R498C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BACE2, LOC126653380 (T450A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | BACE2-related disorder +1 more | |
| | BACE2, LOC126653380 (V478I +1 more) | Single nucleotide variant (missense variant +1 more) | BACE2-related disorder +1 more | |
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