| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CACNA1A, LOC108663985 (Q2325del +1 more) | Microsatellite (3 prime UTR variant +1 more) | Episodic ataxia type 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Undetermined early-onset epileptic encephalopathy +4 more | |
Click to view in NCBI Gene