| | | 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 | |
| | | Deletion | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Duplication | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | 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 | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | PIGN-related disorder | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Duplication (nonsense) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Duplication (frameshift variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion (frameshift variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Insertion (frameshift variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Duplication (frameshift variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |