| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not specified | |
| | LOC110120863, LOC112529910 +34 more | Copy number loss | Autism spectrum disorder | |
| | | Single nucleotide variant (nonsense) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | Chromosome 17q12 deletion syndrome | |
| | | Copy number loss | Chromosome 17q12 deletion syndrome | |
| | | Copy number loss | Chromosome 17q12 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | HNF1B-related disorder | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | LOC126862543, LOC126862544 +41 more | Copy number gain | Anomalous pulmonary venous return | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | See cases | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Duplication | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Duplication (frameshift variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Deletion (frameshift variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Deletion (nonsense) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 5 | |