| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Absent speech +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly +24 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Unilateral polymicrogyria +3 more | |
Click to view in NCBI Gene