| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Primary open angle glaucoma +5 more | |
| | | Single nucleotide variant (synonymous variant) | Amyotrophic lateral sclerosis type 12 +4 more | GConflicting classifications of pathogenicity |
| | | Variation (no sequence alteration) | Primary open angle glaucoma +3 more | |
Click to view in NCBI Gene