| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Microphthalmia, isolated, with coloboma 7 | |
| | | Single nucleotide variant (missense variant +1 more) | Protoporphyria, erythropoietic, 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia, isolated, with coloboma 7 | |
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