| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | CEBALID syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Isolated focal cortical dysplasia type II +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene