| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Insertion (frameshift variant +2 more) | Intellectual disability-severe speech delay-mild dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability-severe speech delay-mild dysmorphism syndrome +1 more | |
Click to view in NCBI Gene