| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Usher syndrome type 1D | |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 1D | |
| | | Single nucleotide variant (missense variant +2 more) | Usher syndrome type 1D +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Usher syndrome type 1D | |
| | | Duplication (nonsense +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant) | Usher syndrome type 1D | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Pituitary adenoma 5, multiple types +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
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