| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Atypical behavior +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | not provided +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Severe neonatal-onset encephalopathy with microcephaly +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene