Links from MedGen
Items: 6
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (frameshift variant) | Microphthalmia/coloboma 11 | |
| | | Deletion (frameshift variant) | Microphthalmia/coloboma 11 | |
| | | Single nucleotide variant (missense variant) | Microphthalmia/coloboma 11 | |
| | | Deletion (frameshift variant) | Microphthalmia/coloboma 11 | |
| | | Indel (frameshift variant) | Microphthalmia/coloboma 11 | |
| | | Deletion (inframe_deletion) | Congenital ocular coloboma | |
Click to view in NCBI Gene