| | | 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 (synonymous variant) | not provided | |
| | | Copy number loss | not specified | |
| | SLC24A3, SLC4A11 +164 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Duplication (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 12 | |
| | | Microsatellite (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | Renal agenesis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Duplication | Developmental and epileptic encephalopathy, 12 | |
| | | Duplication | Developmental and epileptic encephalopathy, 12 | |
| | | Deletion | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |