| | LOC130005128, LOC130005129 +723 more | Copy number gain | See cases | |
| | LOC111718490, LOC112067719 +388 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | BGLT3, A-GAMMA3'E +328 more | Deletion | Thalassemia, gamma-delta-beta | |
| | LINC02749, LOC106865369 +45 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +4 more) | not provided +1 more | 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 (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +5 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (missense variant +4 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (missense variant +4 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +4 more) | not provided | |
| | | Single nucleotide variant (missense variant +4 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +4 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +4 more) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +4 more) | Autism spectrum disorder | |
| | | Single nucleotide variant (synonymous variant +4 more) | not provided | |
| | | Single nucleotide variant (missense variant +4 more) | Hyperphosphatasia with intellectual disability syndrome 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +4 more) | 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 (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | 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 (synonymous variant +3 more) | PGAP2-related disorder | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | 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) | Autism spectrum disorder | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 3 +1 more | |
| | | Duplication (frameshift variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +3 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | PGAP2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Duplication (frameshift variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |