| | | Single nucleotide variant | not provided | |
| | | Deletion | Developmental and epileptic encephalopathy, 2 +1 more | |
| | | Deletion | Atypical Rett syndrome | |
| | | Deletion | Atypical Rett syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Atypical Rett syndrome | |
| | | Single nucleotide variant (missense variant) | CDKL5 disorder | |
| | | Single nucleotide variant (splice donor variant) | Atypical Rett syndrome | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 2 +3 more | |
| | | Deletion (frameshift variant) | Autism +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Atypical Rett syndrome | |
| | | Deletion (splice acceptor variant) | Atypical Rett syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | CDKL5-related condition +3 more | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 2 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 2 | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 2 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Atypical Rett syndrome | |
| | | Duplication (frameshift variant) | Atypical Rett syndrome | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Angelman syndrome-like +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (nonsense) | Atypical Rett syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Atypical Rett syndrome | |
| | | Deletion (frameshift variant) | Atypical Rett syndrome | |
| | | Deletion (frameshift variant) | Atypical Rett syndrome | |
| | | Single nucleotide variant (nonsense) | Atypical Rett syndrome | |
| | | Single nucleotide variant (missense variant) | CDKL5 disorder | |
| | | Single nucleotide variant (missense variant) | Atypical Rett syndrome | |
| | | Duplication (frameshift variant) | Atypical Rett syndrome | |
| | | Deletion (frameshift variant) | Atypical Rett syndrome | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 2 +1 more | |
| | | Duplication (frameshift variant) | Atypical Rett syndrome | |
| | | Deletion (frameshift variant) | Atypical Rett syndrome | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 2 +2 more | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Atypical Rett syndrome | |
| | | Deletion (frameshift variant) | Atypical Rett syndrome | |
| | | Duplication (nonsense) | Atypical Rett syndrome | |
| | | Indel | Atypical Rett syndrome | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 2 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 2 +1 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Atypical Rett syndrome | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 2 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Atypical Rett syndrome | |
| | | Single nucleotide variant (intron variant) | Atypical Rett syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | CDKL5 disorder | |
| | | Deletion (frameshift variant) | Severe neonatal-onset encephalopathy with microcephaly +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Severe neonatal-onset encephalopathy with microcephaly +3 more | |
| | | Deletion | Atypical Rett syndrome | |
| | | Deletion | Atypical Rett syndrome +1 more | |