| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Nance-Horan syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | Nance-Horan syndrome +2 more | |
| | | Duplication (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
Click to view in NCBI Gene