| | | Single nucleotide variant (splice donor variant) | Neu-Laxova syndrome 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Absent speech +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay +7 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_insertion) | Developmental and epileptic encephalopathy, 5 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Severe global developmental delay +2 more | |
| | | Single nucleotide variant (missense variant) | Wilson disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Premature ovarian failure +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 28 | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy +2 more | |
| | | Duplication (frameshift variant) | Developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Seizure +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epileptic encephalopathy | |