| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability-severe speech delay-mild dysmorphism syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (splice acceptor variant) | Intellectual disability-severe speech delay-mild dysmorphism syndrome +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability-severe speech delay-mild dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability-severe speech delay-mild dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability-severe speech delay-mild dysmorphism syndrome +2 more | |
| | | Microsatellite (inframe_deletion +2 more) | Intellectual disability-severe speech delay-mild dysmorphism syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability-severe speech delay-mild dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability-severe speech delay-mild dysmorphism syndrome | |
Click to view in NCBI Gene