| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +3 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
Click to view in NCBI Gene