| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | See cases | |
| | ALG11, LOC130009841 (E5fs) | Duplication (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ALG11, LOC130009841 (R15T) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
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