Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Insertion (inframe_indel) | Reis-Bucklers' corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Reis-Bucklers' corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Avellino corneal dystrophy +1 more | |
| | | Deletion (inframe_deletion) | Reis-Bucklers' corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Groenouw corneal dystrophy type I +7 more | |
Click to view in NCBI Gene