| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Indel (inframe_indel) | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | |
Click to view in NCBI Gene