| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | Corneal dystrophy, Fuchs endothelial, 3 +4 more | |
| | | Single nucleotide variant (intron variant) | Pitt-Hopkins syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pitt-Hopkins syndrome +2 more | |
Click to view in NCBI Gene