| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
Click to view in NCBI Gene