Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Fibrosis of extraocular muscles, congenital, 3b | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
Click to view in NCBI Gene