| | LOC112577491, LOC112577504 +2149 more | Copy number gain | Trisomy 12p | |
| | LOC129929733, LOC129929734 +1145 more | Copy number gain | See cases | |
| | | Single nucleotide variant | Hyperphosphatasia-intellectual disability syndrome | |
| | | 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 | |
| | | 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 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | 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) | not provided | |
| | | Single nucleotide variant (intron variant) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Microsatellite (frameshift variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +3 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | 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 (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | not specified +3 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 +3 more) | Hyperphosphatasia with intellectual disability syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +3 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |