| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 102 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene