| | MCM3AP, MCM3AP-AS1 (L1706F) | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital fibrosis of extraocular muscles | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital fibrosis of extraocular muscles | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles | |
| | FGF21, LOC109279247 (R45W) | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles +1 more | |
| | HRAS, LRRC56 (P169fs +1 more) | Duplication (frameshift variant +1 more) | Congenital fibrosis of extraocular muscles +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Congenital fibrosis of extraocular muscles | |
| | | Duplication (intron variant) | Congenital fibrosis of extraocular muscles | |
| | | Deletion (3 prime UTR variant) | Congenital fibrosis of extraocular muscles | |
| | | Duplication (3 prime UTR variant) | Congenital fibrosis of extraocular muscles +1 more | |
| | | Duplication (3 prime UTR variant) | Congenital fibrosis of extraocular muscles | |