| | | Single nucleotide variant (missense variant) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | |
| | CRYBG1, LOC123775393
+5 more | Copy number loss | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | |
| | | Single nucleotide variant (intron variant) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | |
| | | Single nucleotide variant (missense variant) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | |
| | | Single nucleotide variant (nonsense) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | |
| | | Single nucleotide variant (missense variant) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | |
| | | Indel (inframe_indel +1 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures +1 more | |
| | | Single nucleotide variant (missense variant) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | |
| | | Single nucleotide variant (missense variant +2 more) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | |
| | | Single nucleotide variant (splice donor variant) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures +2 more | |
| | | Single nucleotide variant (missense variant) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | |
| | | Single nucleotide variant (nonsense) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures +1 more | |
| | | Single nucleotide variant (missense variant) | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures +1 more | |