| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal dominant keratitis +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Foveal hypoplasia 1 +6 more | |
| | | Deletion (5 prime UTR variant +1 more) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal dominant keratitis +6 more | |
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