| | | Single nucleotide variant (missense variant) | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | |
| | | Single nucleotide variant (missense variant) | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | |
| | | Single nucleotide variant (intron variant) | Complex cortical dysplasia with other brain malformations 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital fibrosis of extraocular muscles type 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Complex cortical dysplasia with other brain malformations 1 +3 more | GConflicting classifications of pathogenicity |
| | | Variation | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | |
| | | Single nucleotide variant (missense variant) | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | TUBB3-related tubulinopathy +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | |
| | | Single nucleotide variant (missense variant) | Complex cortical dysplasia with other brain malformations 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Complex cortical dysplasia with other brain malformations 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | TUBB3-Releated Disorders +3 more | |
| | | Single nucleotide variant (missense variant) | TUBB3-related tubulinopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | |
| | | Single nucleotide variant (missense variant) | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |