| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | GPathogenic/Likely pathogenic |
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