| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Duplication (3 prime UTR variant) | Congenital fibrosis of extraocular muscles | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Duplication (3 prime UTR variant) | Congenital fibrosis of extraocular muscles +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Deletion (3 prime UTR variant) | Congenital fibrosis of extraocular muscles | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (synonymous variant) | Congenital fibrosis of extraocular muscles type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense 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 (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (missense variant) | KIF21A-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | KIF21A-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Duplication (frameshift variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Insertion (frameshift variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (missense variant) | KIF21A-related disorder | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | KIF21A-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles type 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (intron variant) | Congenital fibrosis of extraocular muscles | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Duplication (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |