| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | KCNMA1, KCNMA1-AS1 (K833R +7 more) | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cerebellar atrophy, developmental delay, and seizures +3 more | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome +5 more | |
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