| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | HTRA2, LOXL3 (V407fs +3 more) | Deletion (frameshift variant +2 more) | 3-methylglutaconic aciduria type 8 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | Myopia 28, autosomal recessive | |
| | | Duplication (frameshift variant +1 more) | not provided | |
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