| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability with marfanoid habitus +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability with marfanoid habitus +2 more | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability with marfanoid habitus +1 more | |
| | | Single nucleotide variant (splice donor variant) | FG syndrome +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene