| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | KCNMA1, KCNMA1-AS1 (P654L +7 more) | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome +3 more | |
| | | Single nucleotide variant (splice donor variant) | Liang-Wang syndrome | |
Click to view in NCBI Gene