| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Duplication (frameshift variant +1 more) | Hyperphosphatasia-intellectual disability syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | PIGO-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
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