| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | not provided | GPathogenic/Likely pathogenic |
| | HTRA2, LOXL3 (Q343* +3 more) | Single nucleotide variant (nonsense +2 more) | not provided | GConflicting classifications of pathogenicity |
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