| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice donor variant) | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | |
| | | Duplication (nonsense) | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | |
| | | Single nucleotide variant (nonsense) | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene