| | LOC130001767, LOC130001768 +1006 more | Copy number gain | See cases | |
| | LOC124210612, LOC124210613 +3786 more | Copy number gain | See cases | |
| | CDKN2B, CDKN2B-AS1 +1214 more | Copy number gain | See cases | |
| | LOC121331326, LOC121331327 +3785 more | Copy number gain | See cases | |
| | LOC126860737, LOC126860738 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001680, LOC130001681 +1062 more | Copy number gain | See cases | |
| | LOC124210611, LOC124210612 +1120 more | Copy number gain | See cases | |
| | LOC110121197, LOC110121234 +3786 more | Copy number gain | See cases | |
| | LOC121331342, LOC121331343 +3786 more | Copy number gain | See cases | |
| | LOC130001484, LOC130001485 +883 more | Copy number gain | See cases | |
| | LOC130001854, LOC130001855 +1367 more | Copy number gain | See cases | |
| | LOC113839542, LOC113839543 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001585, LOC130001586 +984 more | Copy number gain | See cases | |
| | LOC130001507, LOC130001508 +899 more | Copy number gain | See cases | |
| | LOC130001746, LOC130001747 +980 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002189, LOC130002190 +3786 more | Copy number gain | See cases | |
| | SPATA31F3, SPATA31G1 +898 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ALDH1B1, ANKRD18B +360 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Anauxetic dysplasia | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyperphosphatasia with intellectual disability syndrome 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hyperphosphatasia with intellectual disability syndrome 2 +1 more | |
| | | Microsatellite (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Indel (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (nonsense) | Hyperphosphatasia with intellectual disability syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Deletion (frameshift variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | PIGO-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Microsatellite (intron variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Microsatellite (intron variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hyperphosphatasia with intellectual disability syndrome 2 | |