| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cataract 1 multiple types | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Usher syndrome | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Carnitine acylcarnitine translocase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | GNE myopathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Morquio syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
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