| | | Single nucleotide variant (nonsense +2 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 15 +2 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Developmental and epileptic encephalopathy, 15 | |
| | | Single nucleotide variant (missense variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 15 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 15 | |
| | | Single nucleotide variant (splice donor variant +1 more) | Developmental and epileptic encephalopathy, 15 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant +1 more) | Developmental and epileptic encephalopathy, 15 | |
| | | Single nucleotide variant (nonsense +2 more) | Developmental and epileptic encephalopathy, 15 | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 15 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 15 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, autosomal recessive 12 +4 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 15 +3 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 15 +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability, autosomal recessive 12 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 15 | |