| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129389600, LOC129996910
+5 more | Deletion | Macrocephaly +3 more | |
| | CRYBG1, LOC123775393
+5 more | Copy number loss | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly +4 more | |
Click to view in NCBI Gene