| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | |
| | | Single nucleotide variant (splice donor variant) | Glaucoma 3, primary congenital, D | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary congenital, D | |
| | | Single nucleotide variant (missense variant) | Pseudoexfoliation glaucoma | |
| | | Single nucleotide variant (nonsense) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | Primary open angle glaucoma | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome | |
Click to view in NCBI Gene