| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ERO1B, LOC129932875 (A15G) | Single nucleotide variant (missense variant) | not specified | |
| | ERO1B, LOC129932875 (A10S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Developmental cataract | |
| | | Copy number loss | not provided | |
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