| | | Deletion | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Deletion (nonsense) | Developmental and epileptic encephalopathy, 54 | |
| | | Microsatellite (frameshift variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Copy number loss | HNRNPU-related disorder | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Deletion (inframe_deletion) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Deletion (frameshift variant) | Neurodevelopmental delay | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Microsatellite (frameshift variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (non-coding transcript variant +1 more) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Duplication (frameshift variant) | Intellectual disability | |
| | | Duplication (frameshift variant) | not provided | |