| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | |
| | | Microsatellite (inframe_insertion +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Dystonia 34, myoclonic +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Dystonia 34, myoclonic +1 more | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities +1 more | |
| | KCNN2, LOC101927078 (T222A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | |
| | KCNN2, LOC101927078 (V100fs +2 more) | Duplication (frameshift variant +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | |
| | KCNN2, LOC101927078 (H657R +2 more) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | |
| | | Insertion (inframe_insertion +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | |
| | KCNN2, LOC101927078 (L644P +2 more) | Single nucleotide variant (missense variant +1 more) | Dyskinesia +3 more | |
| | | Single nucleotide variant (splice donor variant) | Autistic behavior +4 more | |
| | KCNN2, LOC101927078 (Y13C +2 more) | Single nucleotide variant (missense variant +1 more) | Global developmental delay +4 more | |
| | | Indel (missense variant) | Intellectual disability +3 more | |
| | | Single nucleotide variant (nonsense) | Motor tics +3 more | |