| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Genitopatellar syndrome | |
| | | Single nucleotide variant (synonymous variant) | Blepharophimosis - intellectual disability syndrome, SBBYS type +2 more | |
| | | Microsatellite (frameshift variant) | Genitopatellar syndrome +4 more | |
| | | Duplication (frameshift variant) | Blepharophimosis - intellectual disability syndrome, SBBYS type | |
| | | Single nucleotide variant (nonsense) | Genitopatellar syndrome | |
Click to view in NCBI Gene