| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +3 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
Click to view in NCBI Gene