Mutation TypeNucleotide ChangeAA ChangeNumber of PatientsPhenotype CategoryReference
early truncating509_510delAGE170fsX1931early seizures variant 
late truncating1090G>TE364X1early seizures variant 
early truncating163_166delGAAAR55fsX741early seizures variant
$nd1648C>TR550X1early seizures variant 
missense211A>GN71D1early seizures variant 
missense225T>AI72N1early seizures variant 
early truncating2322-2323delAGK776Afs*241classic Rett 
late truncating2343delGS781fsX7831early seizures variant
late truncating2635_2636delCTE879fsX9081early seizures variant
missense3004 G>AVal456Ile1ND (age less than 4 years) 
missense395T>GV132G1early seizures variant 
early truncating1039C>TQ347X1early seizures variant 
missense446T>CL149P1early seizures variant 
missense532C>TR178W1early seizures variant 
missense551T>AL184H1early seizures variant 
early truncating554+5G>AG155Afs42X1early seizures variant 
$nd744+1G>C1ND (age less than 4 years) 
early truncating838_847delTTGGACCCAGT281fsX2841early seizures variant
missense863C>TT288I1early seizures variant 
late truncating868C>TQ290X1early seizures variant 
late truncating964dupAT322NfsX41early seizures variant 
gene deletiondeletion exon 7 and 81early seizures variant 
gene deletion1early seizures variant 
missense397c>tHis133Tyr)1classic Rett 
gene duplication0