| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (intron variant) | Familial temporal lobe epilepsy 2 | |
| | | Duplication (intron variant) | Familial temporal lobe epilepsy 2 | |
| | | Deletion (5 prime UTR variant) | CPA6-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (5 prime UTR variant) | Familial temporal lobe epilepsy 2 | |
| | | Microsatellite | Familial temporal lobe epilepsy 2 | |
| | | Single nucleotide variant (genic upstream transcript variant) | Familial temporal lobe epilepsy 2 | |
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