| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hypotonia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypotonia +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Attention deficit hyperactivity disorder +4 more | |
Click to view in NCBI Gene