| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | See cases +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 4 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Hyperphosphatasia with intellectual disability syndrome 4 | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 4 | |
Click to view in NCBI Gene