| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Congenital hereditary endothelial dystrophy of cornea | |
| | | Single nucleotide variant (splice donor variant) | Corneal dystrophy-perceptive deafness syndrome +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene