| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hypotonia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hereditary cryohydrocytosis with reduced stomatin +6 more | |
| | | Single nucleotide variant (missense variant) | Bilateral multifocal epileptiform discharges +2 more | |
| | | Single nucleotide variant (missense variant) | GNAO1-Related Condition +5 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Unverricht-Lundborg syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Microcephaly +2 more | |
| | | Microsatellite (frameshift variant +1 more) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 36 +5 more | |
Click to view in NCBI Gene