| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | CNTNAP2-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Deletion (intron variant) | not provided +1 more | |
Click to view in NCBI Gene