| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion) | Coloboma, ocular, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Coloboma, ocular, autosomal recessive | |
| | | Single nucleotide variant (nonsense +1 more) | Coloboma, ocular, autosomal recessive | |
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