| | | Copy number loss | Premature ovarian failure | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | 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 (synonymous variant +1 more) | not provided | |
| | | Duplication (inframe_insertion +1 more) | Dystonia 34, myoclonic | |
| | | Single nucleotide variant (missense variant +1 more) | Dystonia 34, myoclonic +1 more | |
| | | Duplication (frameshift variant +1 more) | KCNN2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | 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) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Insertion (inframe_insertion +1 more) | Dystonia 34, myoclonic | |
| | | Insertion (inframe_insertion +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | KCNN2-related disorder | |
| | | Single nucleotide variant (nonsense) | Motor tics +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | KCNN2-related Neurodevelopmental movement disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (nonsense) | Cerebellar ataxia +2 more | |
| | | Indel (missense variant) | Intellectual disability +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (inframe_deletion) | KCNN2-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Dystonia 34, myoclonic +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |