| | | Single nucleotide variant (missense variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Deletion (frameshift variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (nonsense +3 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | PIGV-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +3 more) | PIGV-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Indel (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 53 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | PIGV-related disorders +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |