| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Deletion (frameshift variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | Paroxysmal nocturnal hemoglobinuria 2 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures 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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Duplication (intron variant) | not provided +2 more | |