| | | Deletion (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 84 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 84 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129992561, LOC129992562 +1409 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992261, LOC129992262 +962 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC123477714, LOC123477715 +1267 more | Copy number gain | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | FETAL DEMISE | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 84 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 84 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 84 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Developmental and epileptic encephalopathy, 84 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 84 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 84 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Epileptic encephalopathy | |
| | | Single nucleotide variant (nonsense +1 more) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (nonsense) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 84 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 84 | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Microsatellite (intron variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 84 | GPathogenic/Likely pathogenic |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129992145, LOC129992146 +1209 more | Copy number gain | See cases | |