| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles type 1 +1 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles type 1 | |
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