| | | Deletion (frameshift variant +1 more) | Cerebellar atrophy, developmental delay, and seizures | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KCNMA1, KCNMA1-AS1 (R562W +6 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (intron variant +1 more) | KCNMA1-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | KCNMA1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | KCNMA1-related condition | |
| | | Single nucleotide variant (intron variant) | KCNMA1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | KCNMA1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | KCNMA1-related condition | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | KCNMA1-related condition | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | KCNMA1, KCNMA1-AS1 (K559E +6 more) | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Microsatellite (inframe_insertion) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Duplication (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | KCNMA1-AS1, KCNMA1 (D794N +7 more) | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | KCNMA1, KCNMA1-AS1 (D1038N +9 more) | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Duplication (inframe_insertion) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Duplication (inframe_insertion) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Insertion (inframe_insertion) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Duplication (inframe_insertion) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Duplication (inframe_insertion) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Duplication (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (splice donor variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | KCNMA1, KCNMA1-AS1 (T1001M +9 more) | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | KCNMA1, KCNMA1-AS1 (L785V +6 more) | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | KCNMA1, KCNMA1-AS1 (N915S +7 more) | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | KCNMA1, KCNMA1-AS1 (R918G +7 more) | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | KCNMA1, KCNMA1-AS1 (N821S +7 more) | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | KCNMA1, KCNMA1-AS1 (K771N +6 more) | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |