MECP2 Proband List



Nucleotide change Genomic name Amino acid change Type of sequence change Domain change Pathogenicity Phenotype Gender Proband ID View record
uncertain p.Ile314Ile Silent C-term Silent polymorphism Rett syndrome-Not certain Female 9 View details
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 3866 View details
c.[1038_1119del82; 1169_1339del171ins137] p.Ser346fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 37 View details
c.[880C>T];[1326C>T] p.[Arg294*];[Thr442Thr] Nonsense, silent TRD, C-term Mutation associated with disease Rett syndrome-Not certain Unknown 128 View details
c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease Rett syndrome-Not certain Unknown 129 View details
c.[752C>T];[1038_1191del154] p.[Pro251Leu];[Ser346fs] Missense, frameshift insertion or deletion TRD, C-term Mutation associated with disease Rett syndrome-Not certain Unknown 131 View details
c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease Rett syndrome-Not certain Unknown 132 View details
c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease Rett syndrome-Not certain Unknown 134 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 325 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 326 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 327 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 328 View details
c.1165_1233del69ins21 p.Pro389_Pro411del23ins7 In-frame combined insertion and deletion C-term Unknown Rett syndrome-Classical Female 350 View details
c.[473C>T];[1189G>A] p.[Thr158Met];[Glu397Lys] Missense MBD, C-term Mutation associated with disease Rett syndrome-Atypical Female 438 View details
c.[1053_1054ins10; 1145_1199del55] p.Lys352fs in-frame combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 855 View details
c.[1118_1300del183ins61];[1157_1197del41] p.[Ser373fs];[Leu386fs] frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1117 View details
c.[=/398G>A] p.[=/Arg133His] Missense MBD Unknown Rett syndrome-Male variant Male 1182 View details
c.[=/167_168delCC] p.[=/Pro56fs] Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Unknown 1204 View details
c.[423C>G];[=] p.[Tyr141*];[=] Nonsense MBD Mutation associated with disease Rett syndrome-Male variant Male 1434 View details
c.[1126C>T];[1126C>T] p.[Pro376Ser];[Pro376Ser] Missense C-term Polymorphism not causing disease Not Rett synd. Female 1571 View details
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense N-term Unknown Rett syndrome-classical Female 3864 View details
MECP2_e1: c.1A>T MeCP2_e1: p.M1? missense N-term Unknown Rett syndrome-classical Female 3865 View details
c.764_765ins8 p.Arg255fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1671 View details
c.249_250ins7 p.Arg84fs Frameshift insertion or deletion MBD Mutation associated with disease Not Known Female 1766 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1864 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Rett syndrome-Not certain Female 1916 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1917 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1918 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1919 View details
c.-168-?_*?del p.Met1? Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 1980 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1971 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1972 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1982 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1983 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1984 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1985 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1986 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1987 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1988 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1989 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1990 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1991 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1992 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1993 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1994 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1995 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1996 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Known Female 2004 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2005 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Male 2006 View details
c.[378-74C>T;602C>T];[378-74C>T] p.[Ala201Val];[=] Intronic variation, missense Intronic, inter-domain region Polymorphism not causing disease Not Rett synd. Female 2053 View details
complex rearrangement complex rearrangement Not known Not known Unknown Rett syndrome-Classical Female 2070 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2071 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2072 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Rett syndrome-Atypical Female 2074 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Atypical Female 2077 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2078 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2079 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2080 View details
c.27-?_(378_1461)del p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2081 View details
c.27-?_(378_1461)del p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2082 View details
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Classical Female 2083 View details
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Classical Female 2084 View details
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Atypical Female 2085 View details
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Classical Female 2086 View details
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Not certain Female 2087 View details
[c.897C>T (+) c.(378_1461)_(378_1461)del] [p.Thr299Thr (+) p.(Asn126+Ser486)fs] Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Classical Female 2088 View details
c.481_987del507ins8 p.Gly161fs frameshift combined insertion and deletion MBD Mutation associated with disease Rett syndrome-Classical Female 2090 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup In-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-Atypical Female 2162 View details
MECP2_e1: c.21_23dup3 MeCP2_e1: p.A8dup In-frame insertion or deletion N-term Unknown Not Known Female 2163 View details
Not known p.Ser373* Nonsense C-term Mutation associated with disease Rett syndrome-Atypical Female 2337 View details
c.[1202G>A];[1202G>A] p.[Ser401Asn];[Ser401Asn] Missense C-term Polymorphism not causing disease Not Rett synd. Female 2390 View details
MECP2_e1: c.30delCinsGA MeCP2_e1: p.S10fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2497 View details
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Atypical Female 2499 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Atypical Female 2500 View details
c.26+25171_13878del50531ins14 (exons 3 and 4 deleted) p.Arg9fs Frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2532 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2535 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2536 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2537 View details
c.[1132_1159del28;1167_1176del10];[1132_1159del28;1167_1176del10] p.[Ala378fs];[Ala378fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2544 View details
c.[1148_1177del30];[1148_1177del30] p.[Leu383_Glu392del];[Leu383_Glu392del] inframe insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2545 View details
MECP2_e1: c.-46_-45delGC 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2551 View details
MECP2_e1: c.-27_-26delAG 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2552 View details
MECP2_e1: c.-27_-26delinsTT 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2553 View details
MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2554 View details
MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2555 View details
MECP2_e1: c.18_23del6 MeCP2_e1: p.A7_A8del in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2556 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2557 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2558 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2559 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2560 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2561 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2562 View details
MECP2_e1: c.49G>A MeCP2_e1: p.E17K missense N-term Unknown Not Rett synd. Female 2563 View details
c.27-?_*8554+?del (deletion of exons 3 and 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2644 View details
c.1101_1396+?del (deletion of exon 4 near stop codon) p.His367fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2645 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 3915 View details
MECP2_e1: c.48_55dup MeCP2_e1: p.G19Afs*28 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2756 View details
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 2757 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-atypical Female 2758 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2759 View details
c.-168-?_*?del p.Met1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2762 View details
MECP2_e1: c.59_60delGA MeCP2_e1: p.R20Tfs*40 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2781 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2789 View details
c.1336-?_*?del p.? frameshift insertion or deletion N-term/MBD/interdomain/TRD/NLS/C-term Mutation associated with disease Rett syndrome-classical Female 2790 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2791 View details
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 2800 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-atypical Female 2801 View details
MECP2_e1: c.23_27dupCGCCG MeCP2_e1: p.S10Rfs*37 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2802 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2803 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2904 View details
c.27-6215_1190del8136 (Deletion of exon 3 and part of exon 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2905 View details
c.[27-5690_1208del7628ins42];[439G>A] p.[Arg9fs];[Asp147Asn] frameshift combined insertion and deletion, missense N-term, MBD Mutation associated with disease Rett syndrome-classical Female 2906 View details
c.1-?_26+?del (Deletion of exons 1 and 2) p.Met1? frameshift insertion of deletion N-term Mutation associated with disease Rett syndrome-classical Female 2907 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2908 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2909 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-classical Female 2912 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-classcial Female 2913 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 2914 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 2915 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-atypical Female 2916 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 2928 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 2929 View details
c.-98-?_377+?del (deletion of exons 2 and 3) p.Met1? frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-atypical Female 2975 View details
c.[1451G>C];[*98dupA] p.[Arg484Thr];[=] missense, 3'UTR C-term, 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 3048 View details
c.[=/473C>T];[473C>T] p.[=/Thr158Met];[Thr158Met] missense MBD Mutation associated with disease Rett syndrome-classical Female 3082 View details
c.830_831ins23 p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3277 View details
c.1159_1160ins300 p.Pro387_Pro388ins100 in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3313 View details
c.[1317_*623delins22; *796_*822del] p.Ala439fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3323 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3325 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3326 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3327 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3328 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3329 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3330 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3331 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3332 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3333 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3334 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3335 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3336 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3337 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3338 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3339 View details
c.27-96_1205del (deletion of exon 3 and 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3340 View details
c.27-4722_*739delins43 p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3342 View details
c.27-6026_1190delinsGT (deletion of exons 3 and 4) p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3344 View details
c.27-3928_1184del (deletion of exons 3 and 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3345 View details
c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del] p.Val316fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3346 View details
c.27-5774_902delinsGTGCCCGGACTGATGTCA (deletion of exon 3 and part of exon 4) p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3349 View details
c.27-?_377+?del (exon 3 deletion) p.Arg9_Asn126delinsSer frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3350 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3351 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3352 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3353 View details
c.[380C>T];[380C>T] p.[Pro127Leu];[Pro127Leu] missense MBD Unknown Rett syndrome-not certain Female 3527 View details
c.[473C>T];[473C>T] p.[Thr158Met];[Thr158Met] missense MBD Mutation associated with disease Rett syndrome-not certain Female 3542 View details
MECP2_e1: c.42_47dupAGGAGG MeCP2_e1: p.G15_G16dup in-frame insertion or deletion N-term Unknown Rett syndrome-not certain Female 3595 View details
c.27-?_1021+?del (deletion of exons 3 and start of exon 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3612 View details
c.27-?_1170+?del (deletion of exon 3 and part of exon 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3613 View details
c.27-?_1170+?del (deletion of exon 3 and part of exon 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3614 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3615 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3616 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3617 View details
c.1169-?_*?del p.Pro390fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3619 View details
MECP2_e1: c.62+1G>A intronic variation intronic variation intronic Unknown Rett syndrome-classical Female 3762 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 3767 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? exonic deletions N-term Mutation associated with disease Rett syndrome-atypical Female 3768 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 3775 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 3776 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 3781 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 3916 View details
c.[*8500C>G];[*8503delC] 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 3861 View details
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense N-term Unknown Rett syndrome-not certain Female 3867 View details
MECP2_e1: c.1A>G MeCP2_e1: p.M1? missense N-term Unknown Rett syndrome-not certain Female 3868 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 3917 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd. Female 3983 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd. Male 3984 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd. Male 3985 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd. Male 3986 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 3987 View details
c.[=/808delC] p.[=/Arg270fs] frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 3988 View details
c.[1363G>T];[=] p.[Glu455*];[=] nonsense C-term Mutation associated with disease Rett syndrome-male variant Male 4198 View details
c.[=/316C>T] p.[=/Arg106Trp] missense MBD Mutation associated with disease Rett syndrome-male variant Male 4218 View details
not certain p.Phe157Leu missense MBD Unknown Rett syndrome-Classical Female 4244 View details
c.669_686conAL078639.5:g.94544_94611 p.Lys223Asnfs*12 frameshift insertion or deletion TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-not certain Female 4318 View details
p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T] p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=] intronic variation, in-frame insertion or deletion, missense, frameshift insertion or deletion intronic, C-term Mutation associated with disease Rett syndrome-Classical Female 4335 View details
c.[378-74C>T];[378-74C>T] intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4337 View details
c.1276_*113del299ins3 p.Ser426fs frameshift combined insertion and deletion C-term Mutation associated with disease Not Known Female 4421 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Not Known Female 4445 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Not Known Male 4446 View details
c.763_1383del621ins15 p.Arg255_Ile461delins5 in-frame combined insertion and deletion TRD, TRD-NLS, C-term Mutation associated with disease Not Known Female 4481 View details
c.943_1140del198ins6 p.Glu315_Val380delins2 in-frame combined insertion and deletion C-term Mutation associated with disease Not Known Female 4513 View details
c.-168-?_26+?del (deletion exons 1 and 2) p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-congenital Female 4600 View details
c.[=/360T>G] p.[=/Tyr120*] nonsense MBD Mutation associated with disease Rett syndrome-atypical Male 4671 View details
c.27-?_377+?del (exon 3 deletion) p.Arg9_Asn126delinsSer frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 4777 View details
c.27-?_377+?del (exon 3 deletion) p.Arg9_Asn126delinsSer frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 4778 View details
c.248-?_320+?del (exon 3 deletion) p.? in-frame insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 4806 View details
c.[=/657-?_1316+?del] p.[=/?] in-frame insertion or deletion TRD Mutation associated with disease Rett syndrome-male variant Male 4807 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 4822 View details
c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4) p.Arg9? frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-congenital Female 4827 View details
c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7] p.His371Glyfs*7 frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-classical Female 4853 View details
not certain p.Phe157Leu missense MBD Unknown Rett syndrome-not certain Female 4905 View details
c.27-?_*?del (deletion of exons 3 and 4) p.Arg9? exonic deletion N-term Mutation associated with disease Rett syndrome-classical Female 4934 View details
c.27-?_*?del (deletion of exons 3 and 4) p.Arg9? exonic deletion N-term Mutation associated with disease Rett syndrome-classical Female 4935 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Known Female 5113 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Male 5114 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 5121 View details
MECP2_e1: c.48_55del8 MeCP2_e1: p.E18Tfs*21 frameshift insertion or deletion N-term Mutation associated with disease Not Rett synd. Female 5122 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? exonic deletions N-term Mutation associated with disease Rett syndrome-atypical Female 5136 View details
MECP2_e1: c.48C>T (r.48_63del) MeCP2_e1: p.Glu17Lysfs*22 splicing N-term Mutation associated with disease Rett syndrome-classical Female 5233 View details
c.[502C>T;1180G>A];[832G>A] p.[Arg168*];[Ala278Thr] nonsense, missense inter-domain region, TRD, C-term Mutation associated with disease Rett syndrome-not certain Female 5235 View details
c.[678delT];[378-109A>G;518C>G] p.[Gln227Lysfs*21];[Pro173Arg] frameshift insertion or deletion, intronic variation, missense TRD, intronic, inter-domain region Mutation associated with disease Rett syndrome-not certain Female 5238 View details
c.820_1153del334ins67 uncertain combined in-frame insertion and deletion TRD, C-term Mutation associated with disease Rett syndrome-not certain Female 5252 View details
c.855_859del5ins12 p.Ala287Lysfs*46 combined frameshift insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5253 View details
MECP2_e1:c.62+2_63+3delTG Intronic variation Frameshift deletion N-term Mutation associated with disease Rett syndrome-male variant Male 5327 View details
c.916C>T missense TRD Mutation associated with disease Rett syndrome-atypical Female 6876 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion exon 1 Mutation associated with disease Not Rett synd. Female 6628 View details
MECP2_e1: c.15_23del9 MeCP2_e1: p.A6_A8del in-frame insertion or deletion exon 1 Polymorphism not causing disease Not Rett synd. Female 6627 View details
MECP2_e1: c.15_23del9 MeCP2_e1: p.A6_A8del in-frame insertion or deletion exon 1 Polymorphism not causing disease Rett syndrome-classical Female 6626 View details
MECP2_e1: c.1A>T MeCP2_e1: p.M1? missense exon 1 Mutation associated with disease Rett syndrome-classical Female 6625 View details
MECP2_e1: c.47_57dup11 MeCP2_e1: p.R20Afs*28 frameshift insertion or deletion exon 1 Mutation associated with disease Rett syndrome-classical Female 6624 View details
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense exon 1 Mutation associated with disease Rett syndrome-classical Female 6623 View details
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense exon 1 Mutation associated with disease Not Rett synd. Female 6622 View details
CDKL5: c.119C>T CDKL5: p.A40V missense CDKL5 Mutation associated with disease Not Rett synd. Female 6582 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 6345 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-classical Female 6344 View details
MECP2_e1: c.2T>C MeCP2_e1: p.M1? missense N-term Mutation associated with disease Rett syndrome-classical Female 6343 View details
MECP2_e1: c.45_47dupAGG in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 6845 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd. Female 6844 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd. Female 6843 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 6842 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 6841 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd. Male 6840 View details
MECP2_e1:c.-235G>T Missense 5'UTR Polymorphism not causing disease Not Rett synd. Female 6839 View details
c.1023_*14472del14911 g.153281346_153296256del14911 p.Ser341fs In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2533 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2730 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2731 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2732 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2733 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2734 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 3863 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4026 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4027 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4028 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4029 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4030 View details
c.*8503dupC g.153287315dupG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4031 View details
c.*8503dupC g.153287315dupG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4032 View details
c.*8500C>G g.153287318G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 3862 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2717 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2718 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2719 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2720 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2721 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2722 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2723 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2724 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2725 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2726 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2727 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2728 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2729 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4021 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4022 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4023 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4024 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4025 View details
c.*7748C>T g.153288070G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2716 View details
c.*7748C>T g.153288070G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4020 View details
c.*5839C>T g.153289979G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2744 View details
c.*5486_*5487dupAT g.153290331_153290332dupAT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2715 View details
c.*5486_*5487dupAT g.153290331_153290332dupAT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4019 View details
c.*5348T>C g.153290470A>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2373 View details
c.*5348T>C g.153290470A>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2374 View details
c.27-12521_*5072del19784 g.153290746_153310529del19784 p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2531 View details
c.*4576A>C g.153291242T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2714 View details
c.*4576A>C g.153291242T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4017 View details
c.*4576A>C g.153291242T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4018 View details
c.*4086_*4087delGT g.153291731_153291732delAC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2743 View details
c.*3878G>C g.153291940C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2713 View details
c.*3878G>C g.153291940C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4016 View details
c.*3662A>G g.153292156T>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2742 View details
c.*3658C>T g.153292160G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2712 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2710 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2711 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4013 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4014 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4015 View details
c.*2956G>A g.153292862C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2709 View details
c.*2706G>A g.153293112C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2708 View details
c.*2657G>A g.153293161C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2707 View details
c.*2556T>A g.153293262A>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2706 View details
c.1078_*2524del2908 g.153293294_153296201del2908 p.Ser360fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3286 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2698 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2699 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2700 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2701 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2702 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2703 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2704 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2705 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4008 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4009 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4010 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4011 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4012 View details
c.*1368C>A g.153294450G>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2697 View details
c.*1237T>C g.153294581A>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2741 View details
c.*1134G>A g.153294684C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-congenital Female 3860 View details
c.1157_*944del1249 g.153294874_153296122del1249 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3309 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2682 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2683 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2684 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2685 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2686 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2687 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2688 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2689 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2690 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2691 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2692 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2693 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2694 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2695 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2696 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4000 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4001 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4002 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4003 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4004 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4005 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4006 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4007 View details
c.*875dupA g.153294943dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2740 View details
c.*861T>G g.153294957A>C 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2681 View details
c.*831G>C g.153294987C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2739 View details
c.*806G>A g.153295012C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2738 View details
c.*767G>T g.153295051C>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2680 View details
c.1129_*568delinsCCGTGG g.153295250_153296150delinsCCACGG p.Lys377fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3291 View details
c.*554G>A g.153295264C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2679 View details
c.*544G>A g.153295274C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2678 View details
c.*529G>T g.153295289C>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2737 View details
c.*489G>C g.153295329C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2736 View details
c.*487G>C g.153295331C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 48 View details
c.*393G>A g.153295425C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2735 View details
c.*371G>C g.153295447C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2677 View details
c.*363G>C g.153295455C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2643 View details
c.*359G>C g.153295459C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2641 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2639 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2640 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 3978 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 3979 View details
c.*204G>A g.153295614C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2676 View details
c.*177G>C g.153295641C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2371 View details
c.*177G>C g.153295641C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2372 View details
c.*156G>T g.153295662C>A 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd. Female 6875 View details
c.807_*125del780 g.153295693_153296472del780 p.Arg270_Ser486delinsGln In-frame insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1722 View details
c.*122delT g.153295696delA 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-Not certain Female 1915 View details
c.27-4722_*112delinsCACTTTGTG g.153295706_153302730delinsCACAAAGTG p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3343 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Not certain Female 1913 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 1914 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Known Female 2118 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2119 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Known Female 2120 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2121 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 2370 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2527 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2528 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 3049 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 3859 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4043 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4048 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4049 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4408 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4409 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-not certain Female 5228 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-not certain Female 5229 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 5230 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 5231 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 5232 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 6611 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 6347 View details
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 381 View details
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 1978 View details
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2675 View details
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 5227 View details
c.*92C>T g.153295726G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2638 View details
c.*92C>T g.153295726G>A 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd. Female 6874 View details
c.*92C>G g.153295726G>C 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-classical Female 4300 View details
c.*55C>G g.153295763G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4215 View details
c.*55C>G g.153295763G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4216 View details
c.*55C>G g.153295763G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4217 View details
c.1163_*39del338 g.153295779_153296116del338 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1362 View details
c.*36G>C g.153295782C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2494 View details
c.1152_*29del g.153295789_153296127del p.Pro385_Ser486delinsAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 5071 View details
c.1041_*29del450 g.153295789_153296238del450 p.Lys347_Ser486delins17 In-frame insertion or deletion C-term Mutation associated with disease Not Known Female 1745 View details
c.*14G>A g.153295804C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-not certain Female 5226 View details
c.*14G>A g.153295804C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 6666 View details
c.*14G>A g.153295804C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-forme fruste Female 6665 View details
c.1097_*13del378 g.153295805_153296182del378 p.His366_Ser486delins22 In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1367 View details
c.1450_*12del24 g.153295806_153295829del24 p.Val485_Ser486delins21 In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 406 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 1386 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Not certain Unknown 1541 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2674 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-atypical Female 3858 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4201 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4202 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4203 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4204 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4205 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4206 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4207 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4208 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4209 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4210 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4211 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4212 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4213 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4214 View details
c.*9G>A g.153295809C>T 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd. Female 6873 View details
c.*8C>T g.153295810G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 445 View details
c.*8C>T g.153295810G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 449 View details
c.1461A>G g.153295818T>C p.*487Trpext*27 Nonstop C-term Unknown Not Known Female 1700 View details
c.1461A>C g.153295818T>G p.*487Cysext*27 Nonstop C-term Unknown Rett syndrome-Classical Female 942 View details
c.1159_1458del300 g.153295821_153296120del300 p.Pro387* in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3312 View details
c.1454_1457del4 g.153295822_153295825del4 p.Val485fs Frameshift insertion or deletion C-term Unknown Rett syndrome-Not certain Female 44 View details
c.1454_1457del4 g.153295822_153295825del4 p.Val485fs frameshift insertion or deletion C-term Unknown Rett syndrome-not certain Female 3324 View details
c.1455_1456dupTA g.153295823_153295824dupTA p.Ser486fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3914 View details
c.1452_1453dup g.153295826_153295827dup p.Val485fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4392 View details
c.1450_1453delAGAG g.153295826_153295829delCTCT p.Arg484fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3746 View details
c.1451G>C g.153295828C>G p.Arg484Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 4047 View details
c.1449G>A g.153295830C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6872 View details
c.1446C>T g.153295833G>A p.Thr482Thr Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1912 View details
c.1044-?_1442+?del g.153295837_153296235del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-atypical Female 5138 View details
c.1044-?_1442+?del g.153295837_153296235del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-atypical Female 5139 View details
c.1441G>A g.153295838C>T p.Val481Met Missense C-term Unknown Rett syndrome-Not certain Female 1637 View details
c.1441G>A g.153295838C>T p.Val481Met missense C-term Unknown Rett syndrome-classical Female 4899 View details
c.1438C>T g.153295841G>A p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 3034 View details
c.1438C>T g.153295841G>A p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 4060 View details
c.1438C>T g.153295841G>A p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4061 View details
c.1437G>A g.153295842C>T p.Thr479Thr silent C-term Silent polymorphism Rett syndrome-atypical Female 5061 View details
c.1436C>T g.153295843G>A p.Thr479Met missense C-term Polymorphism not causing disease Rett syndrome-NK Female 3949 View details
c.1436C>T g.153295843G>A p.Thr479Met missense C-term Polymorphism not causing disease Not Rett synd. Male 3950 View details
c.1436C>T g.153295843G>A p.Thr479Met missense C-term Polymorphism not causing disease Not Rett synd. Unknown 3951 View details
c.1433G>A g.153295846C>T p.Arg478Gln missense C-term Polymorphism not causing disease Not Rett synd. Female 5225 View details
c.1430G>C g.153295849C>G p.Ser477Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 394 View details
c.1430G>C g.153295849C>G p.Ser477Thr Missense C-term Polymorphism not causing disease Not Rett synd. Female 395 View details
c.1430G>C g.153295849C>G p.Ser477Thr missense C-term Polymorphism not causing disease Not Rett synd. Unknown 2658 View details
MECP2_e1: c.1453G>C g.153295862C>G missense C-term Unknown Not Rett synd. Male 6901 View details
c.1415_1416delAG g.153295863_153295864delCT p.Glu472fs frameshift insertion ord deletion C-term Mutation associated with disease Not Rett synd. Male 3019 View details
c.1271_1416del146 g.153295863_153296008del146 p.Leu424fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1662 View details
c.1408_1411del4insTG g.153295868_153295871delinsCA p.Asn470Trpfs*16 combined frameshift insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5251 View details
c.1403_1408del6 g.153295871_153295876del6 p.Arg468_Pro469del In-frame insertion or deletion C-term Unknown Rett syndrome-Classical Female 466 View details
c.1404G>A g.153295875C>T p.Arg468Arg Silent C-term Silent polymorphism Not Known Male 2142 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Female 837 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Male 836 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Female 835 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Male 834 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Male 833 View details
c.1396-?_1397+?del g.153295882_153295883del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3784 View details
c.1396-?_1397+?del g.153295882_153295883del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3785 View details
c.1169-?_1397+?del g.153295882_153296110del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3783 View details
c.1017-?_1397+?del g.153295882_153296262del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-atypical Female 3780 View details
c.27-?_1397+?del g.153295882_153298008del p.Arg9fs exonic deletions N-term Mutation associated with disease Rett syndrome-classical Female 3777 View details
c.27-?_1397+?del g.153295882_153298008del p.Arg9fs exonic deletions N-term Mutation associated with disease Rett syndrome-classical Female 3778 View details
c.27-?_1397+?del g.153295882_153298008del p.Arg9fs exonic deletions N-term Mutation associated with disease Rett syndrome-classical Female 3779 View details
c.1373G>A g.153295906C>T p.Arg458His missense c-term Polymorphism not causing disease Not Rett synd. Male 3876 View details
c.1372C>T g.153295907G>A p.Arg458Cys Missense C-term Polymorphism not causing disease Not Known Female 2143 View details
c.1372C>T g.153295907G>A p.Arg458Cys Missense C-term Polymorphism not causing disease Not Rett synd. Male 2144 View details
c.1364_1365insC g.153295914_153295915insG p.Glu455fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Congenital onset Female 127 View details
c.1324_1364del41 g.153295915_153295955del41 p.Thr442fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1721 View details
c.1324_1364del41 g.153295915_153295955del41 p.Thr442fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6644 View details
c.1363G>T g.153295916C>A p.Glu455* nonsense C-term Mutation associated with disease Rett syndrome-classical Female 4851 View details
c.1358G>A g.153295921C>T p.Arg453Gln Missense C-term Unknown Not Rett synd. Male 1017 View details
c.1358G>A g.153295921C>T missense C-term Unknown Not Known Female 6904 View details
c.1357C>T g.153295922G>A p.Arg453* Nonsense C-term Mutation associated with disease Rett syndrome-Preserved speech Female 2388 View details
c.1357C>T g.153295922G>A p.Arg453* nonsense C-term Mutation associated with disease Not Known Female 4422 View details
c.1338_1354del g.153295925_153295941del p.Ala447fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1716 View details
c.994_1346del353 g.153295933_153296285del353 p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2335 View details
c.1330_1342del13 g.153295937_153295949del13 p.Ala444fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1711 View details
c.1340C>T g.153295939G>A p.Ala447Val Missense C-term Unknown Rett syndrome-Not certain Female 1650 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3801 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 3802 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 4604 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 4605 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Unknown 5224 View details
c.378-?_1337+?del g.153295942_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2786 View details
c.378-?_1337+?del g.153295942_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2792 View details
c.27-?_1337+?del g.153295942_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2782 View details
c.27-?_1337+?del g.153295942_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2784 View details
c.27-?_1337+?del g.153295942_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2787 View details
c.1335G>A g.153295944C>T p.Thr445Thr Silent C-term Silent polymorphism Not Rett synd. Female 414 View details
c.1335G>A g.153295944C>T p.Thr445Thr Silent C-term Silent polymorphism Rett syndrome-Atypical Female 415 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent c-term Silent polymorphism Rett syndrome-Classical Female 2637 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Unknown 2672 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Female 2779 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Unknown 3998 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Unknown 3999 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Unknown 4635 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Unknown 5222 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Unknown 5223 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1136 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1137 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 1548 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 1549 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Atypical Female 2164 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 2671 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 2778 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4074 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 4075 View details
c.1330G>A g.153295949C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6871 View details
c.1330G>A g.153295949C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6870 View details
c.1330G>A g.153295949C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6869 View details
c.1330G>A g.153295949C>T missense C-term Polymorphism not causing disease Not Rett synd. Female 6906 View details
c.1330G>A g.153295949C>T missense C-term Polymorphism not causing disease Not Known Female 6896 View details
c.1327G>A g.153295952C>T p.Ala443Thr missense C-term Unknown Not Rett synd. Male 4897 View details
c.1327G>A g.153295952C>T p.Ala443Thr missense C-term Unknown Not Rett synd. Female 4898 View details
c.1326C>T g.153295953G>A p.Thr442Thr Silent C-term Silent polymorphism Not Rett synd. Female 150 View details
c.1326C>T g.153295953G>A p.Thr442Thr Silent C-term Silent polymorphism Rett syndrome-Classical Female 1210 View details
c.1326C>T g.153295953G>A p.Thr442Thr silent C-term Silent polymorphism Rett syndrome-classical Female 2830 View details
c.1326C>T g.153295953G>A p.Thr442Thr silent C-term Silent polymorphism Rett syndrome-atypical Female 4864 View details
c.1115_1326del212 g.153295953_153296164del212 p.His372fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3748 View details
c.1324A>G g.153295955T>C p.Thr442Ala Missense C-term Unknown Not Known Female 2016 View details
c.1320dupT g.153295959dupA p.Ala441fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3752 View details
c.1316C>T g.153295963G>A missense C-term Polymorphism not causing disease Not Rett synd. Female 6909 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 1574 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Female 1587 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Known Female 2145 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Known Female 2146 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 2165 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 2166 View details
c.1315G>A g.153295964C>T p.Ala439Thr missense C-term Unknown Not Rett synd. Female 2777 View details
c.1308_1309delTC g.153295970_153295971delGA p.Gln437fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1122 View details
c.1308_1309delTC g.153295970_153295971delGA p.Gln437fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6642 View details
c.1152_1292del141 g.153295987_153296127del141 p.Pro385_Lys431del in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6657 View details
c.1265_1289del25insAGCGGCCG g.153295990_153296014delinsCGGCCGCT p.Gly422fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1824 View details
c.1288C>T g.153295991G>A p.Pro430Ser missense C-term Polymorphism not causing disease Rett syndrome-male variant Male 4588 View details
c.1288C>T g.153295991G>A p.Pro430Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4589 View details
c.1288C>T g.153295991G>A p.Pro430Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 4590 View details
c.1288C>T g.153295991G>A p.Pro430Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4591 View details
c.1288C>T g.153295991G>A p.Pro430Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4592 View details
c.1284C>T g.153295995G>A p.Gly428Gly silent C-term Silent polymorphism Rett syndrome-classical Female 3816 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1150 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1529 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1530 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1531 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1550 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1551 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1552 View details
c.343_1282del g.153295997_153297692del p.Arg115_Glu394del in-frame insertion or deletion MBD, inter-domain, TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-not certain Female 4306 View details
c.1278C>T g.153296001G>A p.Ser426Ser silent C-term Silent polymorphism Rett syndrome-atypical Female 4079 View details
c.711_1269del559 g.153296010_153296568del559 p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3266 View details
c.962_1267delinsG g.153296012_153296317delinsC p.Lys321Serfs*13 frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 5133 View details
c.1266C>T g.153296013G>A p.Gly422Gly Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1911 View details
c.1266C>T g.153296013G>A p.Gly422Gly silent C-term Silent polymorphism Not Rett synd. Female 2776 View details
c.1266C>T g.153296013G>A p.Gly422Gly silent C-term Silent polymorphism Rett syndrome-not certain Female 4758 View details
c.1266C>T g.153296013G>A p.Gly422Gly silent C-term Silent polymorphism Not Rett synd. Unknown 5221 View details
c.1196_1266del71 g.153296013_153296083del71 p.Pro399fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3522 View details
c.1223_1265del43 g.153296014_153296056del43 p.Leu408fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2117 View details
c.1235_1260del26 g.153296019_153296044del26 p.Val412fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.1255C>T g.153296024G>A missense C-term Unknown Not Rett synd. Female 6912 View details
c.1250A>T g.153296029T>A p.Lys417Met missense C-term Unknown Not Rett synd. Male 2796 View details
c.1250A>T g.153296029T>A p.Lys417Met missense C-term Unknown Not Rett synd. Female 4675 View details
c.1250A>T g.153296029T>A p.Lys417Met missense C-term Unknown Not Rett synd. Male 6619 View details
c.1233_1243del11 g.153296036_153296046del11 p.Ser411fs frameshift insertion or deletion C-term Unknown Not Rett synd. Male 4966 View details
c.1233_1243del11 g.153296036_153296046del11 p.Ser411fs frameshift insertion or deletion C-term Unknown Not Rett synd. Female 4967 View details
c.1239C>T g.153296040G>A p.Cys413Cys Silent C-term Silent polymorphism Not Known Female 2061 View details
c.1239C>T g.153296040G>A p.Cys413Cys Silent C-term Silent polymorphism Not Rett synd. Male 2062 View details
c.849_1236del388 g.153296043_153296430del388 p.Lys284fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 138 View details
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1143 View details
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Not Known Male 2147 View details
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Not Rett synd. Female 2148 View details
c.1234G>A g.153296045C>T p.Val412Ile missense C-term Polymorphism not causing disease Not Rett synd. Unknown 5219 View details
c.1234G>A g.153296045C>T p.Val412Ile missense C-term Polymorphism not causing disease Not Rett synd. Unknown 5220 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Classical Unknown 850 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1130 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1131 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1132 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1133 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1134 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1135 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Female 1557 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 1819 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1838 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Known Male 2030 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Female 2379 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2380 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2381 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2382 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2383 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2525 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2526 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Unknown 2670 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-not certain Female 4289 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-not certain Female 4290 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-not certain Female 4291 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-not certain Female 4292 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-Classical Female 4345 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Female 4389 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Unknown 4606 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Unknown 4607 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Unknown 4608 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-not certain Female 5217 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Unknown 5218 View details
c.1214_1230del17 g.153296049_153296065del17 p.Pro405fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4420 View details
c.1229G>A g.153296050C>T p.Ser410Asn Missense C-term Unknown Rett syndrome-Classical Female 2125 View details
c.1142_1227del86 g.153296052_153296137del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 4219 View details
c.1142_1227del86 g.153296052_153296137del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 4220 View details
c.1142_1227del86 g.153296052_153296137del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 4221 View details
c.1105_1225del121 g.153296054_153296174del121 p.His369fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3287 View details
c.867_1223delinsA g.153296056_153296412delinsT p.Ser291Glnfs*26 frameshift combined insertion and deletion TRD, C-term Mutation associated with disease Rett syndrome-classical Female 4878 View details
c.1057_1219del163 g.153296060_153296222del163 p.Gly353fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2949 View details
c.1057_1219del163 g.153296060_153296222del163 p.Gly353fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3507 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Male 838 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Female 1542 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Male 1543 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Female 1544 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Female 2490 View details
c.1216C>T g.153296063G>A p.Gln406* nonsense C-term Mutation associated with disease Rett syndrome-not certain Female 4914 View details
c.1163_1216del54 g.153296063_153296116del54 p.Pro388_Pro405del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 919 View details
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Female 2149 View details
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Female 2150 View details
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Male 2151 View details
c.1214C>T g.153296065G>A p.Pro405Leu missense C-term Unknown Not Rett synd. Male 2763 View details
c.1214C>T g.153296065G>A p.Pro405Leu missense C-term Unknown Not Rett synd. Male 3851 View details
c.1214C>T g.153296065G>A p.Pro405Leu missense C-term Unknown Not Rett synd. Female 3933 View details
c.1214C>T g.153296065G>A p.Pro405Leu missense C-term Unknown Not Rett synd. Female 3934 View details
c.1210G>A g.153296069C>T p.Glu404Lys missense C-term Unknown Rett syndrome-classical Female 6579 View details
c.1159_1210del52 g.153296069_153296120del52 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1153 View details
c.1164_1208del45 g.153296071_153296115del45 p.Pro389_Pro403del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 1361 View details
c.1164_1208del45 g.153296071_153296115del45 p.Pro389_Pro403del in-frame insertion or deletion C-term Unknown Rett syndrome-congenital onset Female 2883 View details
c.1173_1207del35 g.153296072_153296106del35 p.Glu392* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6645 View details
c.1170_1207del38 g.153296072_153296109del38 p.Pro391* frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4419 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 14 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 22 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 349 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1121 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1594 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1611 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1693 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1848 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2184 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2185 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2186 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2187 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2188 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2189 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2190 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2487 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2627 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2628 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2629 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 2755 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2884 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 2885 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3011 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3065 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3066 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3315 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 3982 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 5300 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4308 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4316 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Known Male 4417 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4418 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 4790 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 4791 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Male 4792 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Male 4793 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4794 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 4856 View details
c.1164_1207del44 g.153296072_153296115del44 p.Proro389* nonsense C-term Mutation associated with disease Rett syndrome-preserved speech Female 6758 View details
c.1164_1207del44 g.153296072_153296115del44 p.Proro389* nonsense C-term Mutation associated with disease Rett syndrome-classical Female 6757 View details
c.1164_1207del44 g.153296072_153296115del44 p.Proro389* nonsense C-term Mutation associated with disease Rett syndrome-atypical Female 6756 View details
c.1164_1207del44 g.153296072_153296115del44 p.Proro389* nonsense C-term Mutation associated with disease Not Known Female 6755 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Male 6673 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 6674 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 6664 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6663 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 6662 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6661 View details
c.1206C>T g.153296073G>A p.Pro402Pro Silent C-term Silent polymorphism Not Rett synd. Female 2524 View details
c.1206C>T g.153296073G>A p.Pro402Pro silent C-term Silent polymorphism Not Rett synd. Unknown 2657 View details
c.1206C>T g.153296073G>A p.Pro402Pro silent C-term Silent polymorphism Not Rett synd. Female 2775 View details
c.1206C>T g.153296073G>A p.Pro402Pro silent C-term Silent polymorphism Not Rett synd. Unknown 4609 View details
c.1206C>T g.153296073G>A p.Pro402Pro silent C-term Silent polymorphism Rett syndrome-not certain Female 5216 View details
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 43 View details
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 260 View details
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 261 View details
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3415 View details
c.1046_1206del161 g.153296073_153296233del161 p.Ser349fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3285 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1578 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Female 1579 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1580 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Female 1581 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Female 1582 View details
c.1161_1205del45insA g.153296074_153296118delinsT p.Pro389* Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1856 View details
c.1117_1203del87 g.153296076_153296162del87 p.Ser373_Ser401del in-frame insertion or deletion C-term Unknown Rett syndrome-atypical Female 4852 View details
c.1097_1203del107 g.153296076_153296182del107 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2098 View details
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Male 2391 View details
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Female 2392 View details
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Female 2393 View details
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Female 2394 View details
c.1202dupG g.153296077dupC p.Ser401fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3322 View details
c.1132_1202del71 g.153296077_153296147del71 p.Ala378fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1369 View details
c.1132_1202del71 g.153296077_153296147del71 p.Ala378fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3761 View details
c.1123_1202del80 g.153296077_153296156del80 p.Ser375fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1863 View details
c.1012_1202del191 g.153296077_153296267del191 p.Thr338fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 36 View details
c.1163_1201del39 g.153296078_153296116del39 p.Pro388_Ser401delinsArg in-frame insertion or deletion C-term Unknown Not Rett synd. Female 4108 View details
c.1159_1201del43 g.153296078_153296120del43 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 851 View details
c.1116_1201del86 g.153296078_153296163del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1477 View details
c.1116_1201del86 g.153296078_153296163del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2099 View details
c.1116_1201del86 g.153296078_153296163del86 p.His372fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2623 View details
c.1115_1201del87 g.153296078_153296164del87 p.His372_Ser401delinsArg In-frame insertion or deletion C-term Unknown Not Known Female 1777 View details
c.1101_1201del101 g.153296078_153296178del101 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 853 View details
c.1101_1201del101 g.153296078_153296178del101 p.His367fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 5063 View details
c.1096_1201del106 g.153296078_153296183del106 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1368 View details
c.1200dupC g.153296079dupG p.Ser401fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1429 View details
c.1167_1200del34 g.153296079_153296112del34 p.Pro390fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1259 View details
c.1163_1200del38 g.153296079_153296116del38 p.Pro388Glnfs*4 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 6754 View details
c.1160_1200del41 g.153296079_153296119del41 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 348 View details
c.1160_1200del41 g.153296079_153296119del41 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1842 View details
c.1160_1200del41insAGGGGTGG g.153296079_153296119delinsCCACCCCT p.Pro387_Thr400delinsGlnGlyTrp in-frame combined insertion and deletion C-term Unknown Rett syndrome-classical Female 4854 View details
c.1158_1200del43 g.153296079_153296121del43 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 259 View details
c.1158_1200del43 g.153296079_153296121del43 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3310 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 125 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 391 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 448 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 917 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1151 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1457 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1698 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2008 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2107 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2108 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2109 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2110 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2111 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2112 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2625 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2863 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3064 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3307 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3308 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3359 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-NK Female 3758 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-NK Female 3759 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-NK Female 3760 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3871 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4414 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4415 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4931 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6660 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6659 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6658 View details
c.1156_1200del45 g.153296079_153296123del45 p.Leu386_Thr400del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 286 View details
c.1155_1200del46 g.153296079_153296124del46 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 429 View details
c.1155_1200del46 g.153296079_153296124del46 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2021 View details
c.1155_1200del46 g.153296079_153296124del46 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3293 View details
c.1052_1200del149 g.153296079_153296227del149 p.Pro351fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2179 View details
c.1157_1199del43 g.153296080_153296122del43 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3301 View details
c.1157_1199del43 g.153296080_153296122del43 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6651 View details
c.1048_1199del152 g.153296080_153296231del152 p.Ser350fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3621 View details
c.1158_1198del41 g.153296081_153296121del41 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3416 View details
c.1158_1198del41 g.153296081_153296121del41 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3417 View details
c.1197dupC g.153296082dupG p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3410 View details
c.1197dupC g.153296082dupG p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3751 View details
c.1197dupC g.153296082dupG p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6643 View details
c.1197C>T g.153296082G>A p.Pro399Pro Silent C-term Silent polymorphism Rett syndrome-Not certain Unknown 1008 View details
c.1197C>T g.153296082G>A p.Pro399Pro Silent C-term Silent polymorphism Not Rett synd. Male 1577 View details
c.1197C>T g.153296082G>A p.Pro399Pro Silent C-term Silent polymorphism Rett syndrome-Classical Female 2417 View details
c.1197C>T g.153296082G>A p.Pro399Pro silent C-term Silent polymorphism Not Rett synd. Unknown 2668 View details
c.1197C>T g.153296082G>A p.Pro399Pro silent C-term Silent polymorphism Not Rett synd. Unknown 2669 View details
c.1197C>T g.153296082G>A p.Pro399Pro silent C-term Silent polymorphism Not Rett synd. Female 4820 View details
c.1197C>T g.153296082G>A p.Pro399Pro silent C-term Silent polymorphism Not Rett synd. Unknown 5215 View details
c.1197C>T g.153296082G>A silent C-term Silent polymorphism Not Rett synd. Female 6868 View details
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 126 View details
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 367 View details
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3311 View details
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3747 View details
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4712 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 39 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 347 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 482 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1180 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1206 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1363 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1364 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1365 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1379 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1428 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1455 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1606 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1741 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1768 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1834 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2014 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2113 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2114 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2624 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2770 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2862 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 2910 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 2971 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 2972 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3046 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3047 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3063 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3292 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3305 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3306 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3511 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3512 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 4343 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4412 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4413 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4710 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 4770 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4771 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4772 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4922 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 5135 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386Hisfs*5 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 6753 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386Hisfs*5 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6752 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 6655 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6654 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 6653 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6652 View details
c.1156_1197del42 g.153296082_153296123del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3298 View details
c.1156_1197del42 g.153296082_153296123del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3299 View details
c.1156_1197del42 g.153296082_153296123del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3300 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Forme fruste Unknown 916 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2180 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2829 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2950 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3009 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3508 View details
c.1085_1197del113 g.153296082_153296194del113 p.Pro362fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6671 View details
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1016 View details
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1536 View details
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1537 View details
c.1196C>T g.153296083G>A p.Pro399Leu missense C-term Polymorphism not causing disease Not Rett synd. Unknown 5214 View details
c.1194_1195insT g.153296084_153296085insA p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 933 View details
c.1194_1195insT g.153296084_153296085insA p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1670 View details
c.1194_1195insT g.153296084_153296085insA p.Pro399fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2953 View details
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1456 View details
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2181 View details
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3609 View details
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4411 View details
c.1039_1195del157insGT g.153296084_153296240delinsAC p.Lys347fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 287 View details
c.1030_1195del166insGT g.153296084_153296249delinsAC p.Arg344fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1366 View details
c.1164_1194del31 g.153296085_153296115del31 p.Pro391fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4857 View details
c.1145_1194del50 g.153296085_153296134del50 p.Leu382fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 914 View details
c.1145_1194del50 g.153296085_153296134del50 p.Leu382fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3358 View details
c.1193A>C g.153296086T>G missense C-term Polymorphism not causing disease Not Rett synd. Male 6910 View details
c.1129_1193del65 g.153296086_153296150del65 p.Lys377fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1736 View details
c.1012_1193del182 g.153296086_153296267del182 p.Thr338fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1907 View details
c.1157_1192del36 g.153296087_153296122del36 p.Leu386_Asp398delinsHis In-frame insertion or deletion C-term Unknown Not Known Female 1751 View details
c.1150_1192del43 g.153296087_153296129del43 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 257 View details
c.1162_1191del30 g.153296088_153296117del30 p.Pro388_Glu397del in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 2951 View details
c.1162_1191del30 g.153296088_153296117del30 p.Pro388_Glu397del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3314 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1742 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1754 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1776 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1780 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1814 View details
c.1151_1191del41 g.153296088_153296128del41 p.Pro384fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2886 View details
c.1123_1191del69 g.153296088_153296156del69 p.Ser375_Glu397del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 854 View details
c.1121_1191del71 g.153296088_153296158del71 p.Glu374fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1256 View details
c.1190dupA g.153296089dupT p.Asp398fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Unknown 1524 View details
c.1165_1190del26 g.153296089_153296114del26 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 929 View details
c.1165_1190del26 g.153296089_153296114del26 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3318 View details
c.1165_1190del26 g.153296089_153296114del26 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3320 View details
c.1153_1190del38 g.153296089_153296126del38 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 18 View details
c.1189G>T g.153296090C>A p.Glu397* nonsense C-term Mutation associated with disease Rett syndrome-not certain Female 4313 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 205 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Classical Female 398 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 399 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 437 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1129 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 1394 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1499 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1500 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 1501 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Unknown 1502 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1503 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1573 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1589 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1835 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1909 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1910 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 1974 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Male 2009 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2026 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2039 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2130 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Male 2152 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 2522 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 2523 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 2656 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 2667 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 2774 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 3028 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3077 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 3919 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4076 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 4077 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 4078 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 4610 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 4611 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 4612 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 4613 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4757 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 4819 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-atypical Female 4861 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 5068 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 5211 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 5212 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 5213 View details
c.1189G>A g.153296090C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6867 View details
c.1189G>A g.153296090C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6866 View details
c.1189G>A g.153296090C>T missense C-term Polymorphism not causing disease Not Rett synd. Female 6914 View details
MECP2_e1: c.1225G>A g.153296090C>T missense C-term Polymorphism not causing disease Not Rett synd. Female 6905 View details
c.1189G>A g.153296090C>T nonsense C-term Polymorphism not causing disease Not Known Female 6902 View details
c.488_1189del702 g.153296090_153296791del702 p.Gly163_Ser396del in-frame insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3261 View details
c.382_1189del808 g.153296090_153296897del808 p.Gln128fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3258 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 946 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Forme fruste Unknown 918 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1119 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1258 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1478 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1940 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3062 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3317 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 3379 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4416 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6646 View details
c.1160_1188del29 g.153296091_153296119del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1427 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1181 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1257 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1545 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1546 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2115 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2116 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 2973 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3297 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3304 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3357 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3509 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4709 View details
c.1153_1188del36 g.153296091_153296126del36 p.Pro385_Ser396del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 4916 View details
c.1151_1188del38 g.153296091_153296128del38 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 915 View details
c.1151_1188del38 g.153296091_153296128del38 p.Pro384fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3870 View details
c.851_1188del338 g.153296091_153296428del338 p.Lys284fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3278 View details
c.1157_1187del31 g.153296092_153296122del31 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 258 View details
c.1157_1187del31 g.153296092_153296122del31 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3510 View details
c.1158_1186del29 g.153296093_153296121del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1179 View details
c.1158_1186del29insCCA g.153296093_153296121delinsTGG p.Pro387Hisfs*9 frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3610 View details
c.1160_1185del26 g.153296094_153296119del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 40 View details
c.1160_1185del26 g.153296094_153296119del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 41 View details
c.1160_1185del26 g.153296094_153296119del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 42 View details
c.1154_1185del32 g.153296094_153296125del32 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Male variant Male 38 View details
c.378-?_1185+?del g.153296094_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2788 View details
c.27-?_1185+?del g.153296094_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2785 View details
c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA g.153296095_153296115delinsTGCTCAAGTCCTGGGGCTCAG p.Pro389* frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 5301 View details
c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA g.153296095_153296115delinsTGCTCAAGTCCTGGGGCTCAG p.Pro389* in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4821 View details
c.1157_1184del28 g.153296095_153296122del28 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6656 View details
c.822_1184del363 g.153296095_153296457del363 p.Val275_Ser396del in-frame insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3276 View details
c.1155_1183del29 g.153296096_153296124del29 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3294 View details
c.1151_1183del33 g.153296096_153296128del33 p.Pro384_Ser395delinsArg in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3607 View details
c.1180_1181insT g.153296098_153296099insA p.Glu394Valfs*11 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 5110 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 3033 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 4058 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 4059 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 5237 View details
c.1160_1180del21 g.153296099_153296119del21 p.Pro387_Glu394delinsGln in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 2952 View details
c.1160_1180del21 g.153296099_153296119del21 p.Pro387_Glu394delinsGln frameshift insertion or deletion C-term Unknown Rett syndrome-not certain Female 3513 View details
c.1163_1179del17 g.153296100_153296116del17 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2050 View details
c.1163_1179del17 g.153296100_153296116del17 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3316 View details
c.1162_1179del18 g.153296100_153296117del18 p.Pro388_Pro393del In-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-Atypical Female 2183 View details
c.1162_1179del18 g.153296100_153296117del18 p.Pro388_Pro393del in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 4714 View details
c.1128_1179del52 g.153296100_153296151del52 p.Lys377fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4106 View details
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1205 View details
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Unknown 1527 View details
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3520 View details
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3608 View details
c.1176G>A g.153296103C>T p.Glu392Glu Silent C-term Silent polymorphism Rett syndrome-Classical Female 1218 View details
c.767_1175del409 g.153296104_153296512del409 p.Lys256Serfs*17 frameshift insertion or deletion TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 5062 View details
c.1147_1174del28 g.153296105_153296132del28 p.Leu383fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 6639 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-Not certain Female 4 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Not Known Female 2049 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 2068 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-Not certain Female 2191 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-atypical Female 2891 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 5250 View details
c.1168_1173del6 g.153296106_153296111del6 frameshift insertion or deletion C-term Unknown Not Rett synd. Female 6865 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd. Female 6650 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd. Female 6649 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd. Female 6648 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd. Male 6647 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 6614 View details
c.1043_1173del131insTG g.153296106_153296236delinsCA p.Glu348_Pro391delinsVal In-frame combined insertion and deletion C-term Unknown Rett syndrome-Not certain Female 1381 View details
c.1164_1172del9 g.153296107_153296115del9 p.Pro389_Pro391del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 1144 View details
c.1156_1172del17 g.153296107_153296123del17 p.Leu386* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 936 View details
c.1156_1172del17 g.153296107_153296123del17 p.Leu386* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3296 View details
c.914_1172del259 g.153296107_153296365del259 p.Lys305fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 143 View details
c.1169-?_1170+?del g.153296109_153296110del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3782 View details
c.378-?_1170+?del g.153296109_153296901del p.Asn126fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3618 View details
c.1158_1167del10 g.153296112_153296121del10 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 949 View details
c.1158_1167del10 g.153296112_153296121del10 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3303 View details
c.1161_1166del6 g.153296113_153296118del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Unknown Not Rett synd. Female 4855 View details
c.1160_1166del7 g.153296113_153296119del7 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 4344 View details
c.1160_1166del7 g.153296113_153296119del7 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4711 View details
c.1155_1166del12 g.153296113_153296124del12 p.Leu386_Pro389del in-frame insertion or deletion C-term Unknown Rett syndrome-atypical Female 5059 View details
c.731_1166del436 g.153296113_153296548del436 p.Gln244fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 255 View details
c.1164delA g.153296115delT p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3319 View details
c.1163C>T g.153296116G>A p.Pro388Leu Missense C-term Unknown Rett syndrome-Forme fruste Female 2476 View details
c.1163C>T g.153296116G>A p.Pro388Leu missense C-term Unknown Rett syndrome-classical Female 4100 View details
c.1163C>T g.153296116G>A p.Pro388Leu missense C-term Unknown Not Rett synd. Female 4101 View details
c.1162_1163delCC g.153296116_153296117delGG p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4107 View details
c.1162_1163delinsTA g.153296116_153296117delinsTA p.Pro388* frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 2659 View details
c.1162C>T g.153296117G>A p.Pro388Ser missense c-term Unknown Rett syndrome-Classical Female 2626 View details
c.1162C>T g.153296117G>A p.Pro388Ser missense C-term Unknown Rett syndrome-congenital onset Female 2857 View details
c.1161C>T g.153296118G>A p.Pro387Pro silent C-term Silent polymorphism Rett syndrome-Classical Female 2636 View details
c.1161C>T g.153296118G>A p.Pro387Pro silent C-term Silent polymorphism Rett syndrome-not certain Female 4756 View details
c.1160C>T g.153296119G>A p.Pro387Leu Missense C-term Unknown Not Rett synd. Male 1022 View details
c.1159_1160delCCinsT g.153296119_153296120delinsA p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 4773 View details
c.1159_1160delCCinsT g.153296119_153296120delinsA p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4774 View details
c.1159_1160delCCinsT g.153296119_153296120delinsA p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 4775 View details
c.1159_1160delCCinsT g.153296119_153296120delinsA p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Male 4776 View details
c.1028_1158del g.153296121_153296251del p.Gly343Alafs*6 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4890 View details
c.409_1158del g.153296121_153296870del p.Glu137_Leu386del in-frame insertion or deletion MBD, inter-domain region, TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 4866 View details
c.1156_1157dupCT g.153296122_153296123dupAG p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3302 View details
c.1061_1156del96 g.153296123_153296218del96 p.Arg352_Pro385del In-frame insertion or deletion C-term Unknown Rett syndrome-Classical Female 1196 View details
c.1053_1156del104 g.153296123_153296226del104 p.Lys352fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6672 View details
c.1152_1155del4 g.153296124_153296127del4 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2182 View details
c.1151C>T g.153296128G>A p.Pro384Leu missense C-term Unknown Not Rett synd. Female 4894 View details
c.1151C>T g.153296128G>A p.Pro384Leu missense C-term Unknown Not Rett synd. Female 4895 View details
c.1151C>T g.153296128G>A p.Pro384Leu missense C-term Unknown Not Rett synd. Female 4896 View details
c.1135_1142del8 g.153296137_153296144del8 p.Pro379fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 6669 View details
c.1135_1142del8 g.153296137_153296144del8 p.Pro379fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 6668 View details
c.1135_1142delCCCGTGCC g.153296137_153296144delGGCACGGG p.Pro379fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 2000 View details
c.1141C>T g.153296138G>A p.Pro381Ser missense C-term Unknown Rett syndrome-preserved speech Female 6615 View details
c.1141C>G g.153296138G>C p.Pro381Ala missense C-term Polymorphism not causing disease Rett syndrome-classical Female 3012 View details
c.1141C>G g.153296138G>C p.Pro381Ala missense C-term Polymorphism not causing disease Not Rett synd. Male 4050 View details
c.1138G>A g.153296141C>T p.Val380Met missense C-term Unknown Not Rett synd. Female 4092 View details
c.906_1138del233insAC g.153296141_153296373delinsGT p.Ile303_Val380delinsLeu in-frame combined insertion and deletion TRD, C-term Mutation associated with disease Rett syndrome-not certain Female 3620 View details
c.1137C>T g.153296142G>A p.Pro379Pro Silent C-term Silent polymorphism Not Rett synd. Female 1572 View details
c.1127_1137del11 g.153296142_153296152del11 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3289 View details
c.1127_1137del11 g.153296142_153296152del11 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3290 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3167 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Rett syndrome-NK Female 3945 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd. Male 3946 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd. Unknown 3947 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd. Unknown 3948 View details
c.1133C>G g.153296146G>C p.Ala378Gly missense C-term Unknown Rett syndrome-classical Female 4099 View details
c.1133C>G g.153296146G>C Missense C-term Polymorphism not causing disease Not Rett synd. Female 6864 View details
c.1132G>T g.153296147C>A p.Ala378Ser missense C-term Unknown Not Rett synd. Female 6581 View details
c.1132G>T g.153296147C>A p.Ala378Ser missense C-term Unknown Not Rett synd. Male 6580 View details
c.1127C>G g.153296152G>C p.Pro376Arg Missense C-term Unknown Not Rett synd. Female 2369 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 152 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 153 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1538 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1539 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1570 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1655 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 1724 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 1757 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1908 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 2126 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 2153 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 2493 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 2495 View details
c.1126C>T g.153296153G>A p.Pro376Ser missense C-term Polymorphism not causing disease Rett syndrome-classical Female 2858 View details
c.1126C>T g.153296153G>A p.Pro376Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4045 View details
c.1126C>T g.153296153G>A p.Pro376Ser missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4072 View details
c.1126C>T g.153296153G>A p.Pro376Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4073 View details
c.616_1122del507 g.153296157_153296663del507 p.Gly206_Glu374del inframe insertion or deletion inter-domain region, TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 3749 View details
c.1118C>G g.153296161G>C p.Ser373* nonsense C-term Mutation associated with disease Not Known Female 4410 View details
c.1099_1118del20 g.153296161_153296180del20 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1255 View details
c.1114C>T g.153296165G>A p.His372Tyr missense C-term Unknown Not Known Female 6575 View details
c.1104_1106del3 g.153296173_153296175del3 p.His372del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 23 View details
c.1105delC g.153296174delG p.His369fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1695 View details
c.1105delC g.153296174delG p.His369fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6670 View details
c.898_1099del202 g.153296180_153296381del202 p.Val300fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1202 View details
c.1093_1095delGAG g.153296184_153296186delCTC p.Glu365del in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 4818 View details
c.1048_1095del48 g.153296184_153296231del48 p.Ser350_Glu365del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3521 View details
c.894_1095del202 g.153296184_153296385del202 p.Glu298fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3519 View details
c.1087A>T g.153296192T>A p.Lys363* Nonsense C-term Mutation associated with disease Not Known Female 1717 View details
c.1087A>T g.153296192T>A p.Lys363* Nonsense C-term Mutation associated with disease Rett syndrome-Classical Female 2106 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Known Female 2154 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Rett synd. Female 2155 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Known Male 2156 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Rett synd. Female 2157 View details
c.1079C>A g.153296200G>T p.Ser360* Nonsense C-term Mutation associated with disease Rett syndrome-Not certain Female 1107 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Rett syndrome-Male variant Male 1388 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1389 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1390 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1391 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1392 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Male 1393 View details
c.1075T>C g.153296204A>G p.Ser359Pro missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3517 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3566 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 3810 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 3989 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 4892 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 4893 View details
c.1071C>T g.153296208G>A p.Ser357Ser Silent C-term Silent polymorphism Not Rett synd. Female 211 View details
c.1071C>T g.153296208G>A p.Ser357Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1627 View details
c.1069_1071delAGC g.153296208_153296210delGCT p.Ser357del in-frame insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2622 View details
c.1065C>T g.153296214G>A p.Ser355Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 24 View details
c.1065C>A g.153296214G>T p.Ser355Arg missense C-term Unknown Rett syndrome-classical Female 4802 View details
c.184-?_1065+?del g.153296214_153297851del p.? exonic deletions MBD Mutation associated with disease Rett syndrome-classical Female 5137 View details
c.1061G>T g.153296218C>A p.Arg354Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 2003 View details
c.1061G>A g.153296218C>T p.Arg354His Missense C-term Unknown Not Rett synd. Female 2207 View details
c.1053C>G g.153296226G>C p.Pro351Pro silent C-term Silent polymorphism Not Rett synd. Male 5080 View details
c.871_1044del g.153296235_153296408del p.Ile293_Ser350del in-frame insertion or deletion TRD, C-term Mutation associated with disease Rett syndrome-atypical Female 4879 View details
c.1038C>G g.153296241G>C p.Ser346Arg Missense C-term Mutation associated with disease Rett syndrome-Classical Female 939 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Rett syndrome-Not certain Female 17 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Male 1021 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1635 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Known Male 1808 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Known Female 2158 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Male 2159 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Female 2377 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Male 2378 View details
c.1035A>G g.153296244T>C p.Lys345Lys silent C-term Silent polymorphism Not Rett synd. Unknown 2655 View details
c.1035A>G g.153296244T>C p.Lys345Lys silent C-term Silent polymorphism Not Rett synd. Unknown 4626 View details
c.1035A>G g.153296244T>C p.Lys345Lys silent C-term Silent polymorphism Not Rett synd. Unknown 5209 View details
c.1035A>G g.153296244T>C p.Lys345Lys silent C-term Silent polymorphism Not Rett synd. Unknown 5210 View details
c.1035A>G g.153296244T>C silent C-term Silent polymorphism Not Rett synd. Female 6863 View details
c.1030C>T g.153296249G>A p.Arg344Trp Missense C-term Unknown Rett syndrome-Not certain Male 1532 View details
c.1030C>T g.153296249G>A p.Arg344Trp Missense C-term Unknown Not Rett synd. Female 1533 View details
c.1030C>T g.153296249G>A p.Arg344Trp missense C-term Unknown Rett syndrome-atypical Female 4891 View details
c.1030C>G g.153296249G>C p.Arg344Gly missense C-term Unknown Rett syndrome-classical Female 4803 View details
c.1009_1027del19 g.153296252_153296270del19 p.Lys337fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3284 View details
c.27-?_1018+?del g.153296261_153298008del p.Arg9fs exonic deletions N-term Mutation associated with disease Rett syndrome-classical Female 3772 View details
c.27-?_1018+?del g.153296261_153298008del p.Arg9fs exonic deletions N-term Mutation associated with disease Rett syndrome-atypical Female 3773 View details
c.27-?_1018+?del g.153296261_153298008del p.Arg9fs exonic deletions N-term Mutation associated with disease Rett syndrome-classical Female 3774 View details
c.1015T>C g.153296264A>G p.Cys339Arg missense C-term Unknown Rett syndrome-not certain Female 3565 View details
c.999G>T g.153296280C>A p.Gly333Gly silent C-term Silent polymorphism Rett syndrome-not certain Female 4755 View details
c.994_998delAGCGG g.153296281_153296285delCCGCT p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2336 View details
c.996C>T g.153296283G>A p.Ser332Ser silent C-term Silent polymorphism Not Rett synd. Unknown 4614 View details
c.996C>T g.153296283G>A p.Ser332Ser silent C-term Silent polymorphism Rett syndrome-atypical Female 4804 View details
c.996C>T g.153296283G>A silent C-term Silent polymorphism Not Rett synd. Female 6862 View details
c.989_994delinsGCATCTTCTCCTCTTT g.153296285_153296290delinsAAAGAGGAGAAGATGC p.Glu330fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 1203 View details
c.992A>G g.153296287T>C p.Lys331Arg missense C-term Polymorphism not causing disease Rett syndrome-congenital Female 4593 View details
c.992A>G g.153296287T>C p.Lys331Arg missense C-term Polymorphism not causing disease Not Rett synd. Male 4594 View details
c.985G>A g.153296294C>T p.Gly329Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 4615 View details
c.985G>A g.153296294C>T p.Gly329Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4616 View details
c.984C>T g.153296295G>A p.Leu328Leu Silent C-term Silent polymorphism Rett syndrome-Classical Female 351 View details
c.984C>T g.153296295G>A p.Leu328Leu Silent C-term Silent polymorphism Not Rett synd. Female 474 View details
c.984C>T g.153296295G>A p.Leu328Leu Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1128 View details
c.984C>T g.153296295G>A p.Leu328Leu silent C-term Silent polymorphism Rett syndrome-atypical Female 4863 View details
c.984C>T g.153296295G>A p.Leu328Leu silent C-term Silent polymorphism Not Rett synd. Unknown 5207 View details
c.984C>T g.153296295G>A p.Leu328Leu silent C-term Silent polymorphism Not Rett synd. Unknown 5208 View details
c.984C>A g.153296295G>T p.Leu328Leu silent C-term Silent polymorphism Not Known Male 3911 View details
c.984C>A g.153296295G>T p.Leu328Leu silent C-term Silent polymorphism Not Rett synd. Unknown 5206 View details
c.982C>G g.153296297G>C p.Leu328Val missense C-term Unknown Rett syndrome-not certain Female 3166 View details
c.965C>T g.153296314G>A p.Pro322Leu Missense C-term Unknown Rett syndrome-Not certain Female 79 View details
c.965C>T g.153296314G>A p.Pro322Leu Missense C-term Unknown Rett syndrome-Classical Female 2178 View details
c.965C>T g.153296314G>A p.Pro322Leu Missense C-term Unknown Rett syndrome-Classical Female 2424 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-classical Female 2818 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-not certain Female 3165 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-not certain Female 3564 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-Classical Female 4287 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-classical Female 6349 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-classical Female 6348 View details
c.964C>T g.153296315G>A p.Pro322Ser Missense C-term Unknown Not Rett synd. Male 2529 View details
c.964C>T g.153296315G>A p.Pro322Ser Missense C-term Unknown Not Rett synd. Female 2530 View details
c.964C>G g.153296315G>C p.Pro322Ala Missense C-term Unknown Rett syndrome-Classical Female 1403 View details
c.964C>G g.153296315G>C p.Pro322Ala Missense C-term Unknown Rett syndrome-Not certain Female 2177 View details
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-classical Female 2948 View details
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-not certain Female 3163 View details
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-not certain Female 3164 View details
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-classical Female 3807 View details
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-classical Female 4817 View details
c.961A>G g.153296318T>C p.Lys321Glu missense C-term Unknown Rett syndrome-classical Female 6616 View details
c.953A>C g.153296326T>G p.Glu318Ala Missense C-term Unknown Rett syndrome-classical Female 1707 View details
c.953A>C g.153296326T>G p.Glu318Ala Missense C-term Unknown Rett syndrome-atypical Female 1945 View details
c.948C>G g.153296331G>C p.Val316Val Silent C-term Silent polymorphism Not Known Female 2131 View details
c.948C>G g.153296331G>C p.Val316Val silent C-term Silent polymorphism Not Rett synd. Female 2773 View details
c.948C>G g.153296331G>C p.Val316Val silent C-term Silent polymorphism Not Rett synd. Unknown 3997 View details
c.942C>T g.153296337G>A p.Ile314Ile silent C-term Silent polymorphism Not Rett synd. Male 3027 View details
c.942C>T g.153296337G>A p.Ile314Ile silent C-term Silent polymorphism Not Rett synd. Unknown 4617 View details
c.834_939del106 g.153296340_153296445del106 p.Ala279fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 4497 View details
c.932C>T g.153296347G>A p.Thr311Met Missense C-term Unknown Rett syndrome-Not certain Female 1858 View details
c.932C>T g.153296347G>A p.Thr311Met missense C-term Unknown Rett syndrome-classical Female 2817 View details
c.932C>T g.153296347G>A p.Thr311Met missense C-term Unknown Not Rett synd. Female 4888 View details
c.932C>T g.153296347G>A p.Thr311Met missense C-term Unknown Not Rett synd. Female 4889 View details
c.925C>T g.153296354G>A p.Arg309Trp missense TRD Unknown Not Rett synd. Male 3909 View details
c.925C>T g.153296354G>A p.Arg309Trp missense TRD Unknown Not Rett synd. Female 4618 View details
c.925C>T g.153296354G>A p.Arg309Trp missense TRD Unknown Not Rett synd. Male 4748 View details
c.925C>T g.153296354G>A p.Arg309Trp missense TRD Unknown Not Rett synd. Female 5132 View details
c.925C>T g.153296354G>A p.Arg309Trp missense TRD Unknown Rett syndrome-atypical Female 5325 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 3 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 413 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 467 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Not Known Female 476 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1062 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1617 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1630 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1827 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1906 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-classical Female 1929 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2321 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2328 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2331 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2332 View details
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3159 View details
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3160 View details
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3161 View details
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3162 View details
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Not Known Female 4512 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 25 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 73 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 74 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 75 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 76 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 77 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 78 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 121 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 133 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 136 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 168 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 169 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 170 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 171 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 172 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 194 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 234 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 235 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 269 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 319 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 320 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 321 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 322 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 323 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 324 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 385 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 409 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 452 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 459 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 469 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 932 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 927 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Unknown 913 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Unknown 911 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Unknown 912 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 862 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 861 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 860 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 859 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 858 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 857 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 856 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1054 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1055 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1056 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1057 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1058 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1059 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1060 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1061 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 1178 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1209 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1231 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1232 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1304 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1305 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1306 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1401 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1402 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1454 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1483 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1520 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-classical Female 1554 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Rett synd. Female 1555 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1558 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1609 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1706 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1748 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1765 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1773 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1778 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1789 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1807 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1832 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1833 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1905 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1959 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1964 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2011 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2032 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2035 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2040 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2054 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2320 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2322 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2323 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2324 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2325 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2326 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2327 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2329 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2330 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2400 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2409 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 2413 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2432 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2437 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2467 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2488 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2616 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2617 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2618 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2619 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2620 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 2648 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2815 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2816 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2852 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2853 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-forme fruste Female 2875 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2876 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2877 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2878 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2902 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2903 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2945 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2946 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2947 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Rett synd. Female 2976 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3001 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3002 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3014 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3015 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3018 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3143 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3144 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3145 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3146 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3147 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3148 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3149 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3150 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3151 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3152 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3153 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3154 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3155 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3156 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3157 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3158 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3361 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3362 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3386 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3387 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3388 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-preserved speech Female 3389 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3453 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3454 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3455 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3456 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3457 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3458 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3459 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3460 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3461 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3560 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3561 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3562 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3563 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3679 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3680 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3681 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3682 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3683 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3684 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3685 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3797 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3806 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3873 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4066 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4088 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4089 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4122 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4123 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4124 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4125 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4126 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4127 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4128 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-forme fruste Female 5299 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4275 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Atypical Female 4276 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Atypical Female 4277 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4278 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4279 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4280 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4281 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4282 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4283 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4284 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4310 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4507 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4508 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4509 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4510 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4511 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4747 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4816 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4840 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4841 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4883 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4884 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4885 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 4886 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 4887 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4908 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4909 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4910 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4924 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 5047 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 5048 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 6751 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6750 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 6749 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6384 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6383 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6382 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Rett synd. Female 6381 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6380 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6379 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6378 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6377 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6376 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6374 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6375 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-forme fruste Female 6373 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6372 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Rett synd. Female 6371 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6370 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6369 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6367 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6368 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6366 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6365 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6364 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6363 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6361 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Rett synd. Female 6362 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6360 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6359 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6358 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6357 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6356 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6355 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Rett synd. Female 6354 View details
c.914A>G g.153296365T>C p.Lys305Arg Missense TRD Unknown Rett syndrome-Not certain Female 30 View details
c.914A>G g.153296365T>C p.Lys305Arg Missense TRD Unknown Rett syndrome-Not certain Female 1142 View details
c.914A>G g.153296365T>C p.Lys305Arg Missense TRD Unknown Rett syndrome-Classical Female 2408 View details
c.914A>G g.153296365T>C p.Lys305Arg missense TRD Unknown Rett syndrome-classical Female 3627 View details
c.914A>C g.153296365T>G p.Lys305Thr missense TRD Unknown Rett syndrome-classical Female 6617 View details
c.913A>G g.153296366T>C p.Lys305Glu missense TRD Unknown Rett syndrome-not certain Female 3559 View details
c.911A>G g.153296368T>C p.Lys304Arg missense TRD Unknown Not Known Female 4506 View details
c.910A>G g.153296369T>C p.Lys304Glu Missense TRD Unknown Not Known Female 2015 View details
c.910A>G g.153296369T>C p.Lys304Glu missense TRD Unknown Rett syndrome-not certain Female 3142 View details
c.909C>G g.153296370G>C p.Ile303Met missense TRD Unknown Not Rett synd. Female 2977 View details
c.909C>G g.153296370G>C p.Ile303Met missense TRD Unknown Not Rett synd. Female 4882 View details
c.908T>G g.153296371A>C p.Ile303Ser missense TRD Unknown Rett syndrome-not certain Female 3141 View details
c.900_908del g.153296371_153296379del p.Leu301_Ile303del in-frame insertion or deletion TRD Unknown Rett syndrome-forme fruste Female 4386 View details
c.906delC g.153296373delG p.Ile303fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3283 View details
c.906C>G g.153296373G>C p.Pro302Pro silent TRD Silent polymorphism Not Rett synd. Male 2753 View details
c.905C>T g.153296374G>A p.Pro302Leu Missense TRD Unknown Rett syndrome-Classical Unknown 910 View details
c.905C>T g.153296374G>A p.Pro302Leu Missense TRD Unknown Rett syndrome-Not certain Female 1636 View details
c.905C>T g.153296374G>A p.Pro302Leu Missense TRD Unknown Not Known Female 1686 View details
c.905C>T g.153296374G>A p.Pro302Leu Missense TRD Unknown Rett syndrome-Classical Female 2174 View details
c.905C>T g.153296374G>A p.Pro302Leu missense TRD Unknown Rett syndrome-classical Female 3381 View details
c.905C>T g.153296374G>A p.Pro302Leu missense TRD Unknown Rett syndrome-not certain Female 3452 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 11 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 26 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 232 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 233 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 938 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1171 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1302 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1303 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2175 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2176 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2450 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2466 View details
c.905C>G g.153296374G>C p.Pro302Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 3398 View details
c.905C>G g.153296374G>C p.Pro302Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 3678 View details
c.905C>G g.153296374G>C p.Pro302Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 4920 View details
c.905C>A g.153296374G>T p.Pro302His Missense TRD Unknown Rett syndrome-Not certain Unknown 144 View details
c.905C>A g.153296374G>T p.Pro302His missense TRD Unknown Rett syndrome-classical Female 3676 View details
c.905C>A g.153296374G>T p.Pro302His missense TRD Unknown Rett syndrome-classical Female 3677 View details
c.904C>T g.153296375G>A p.Pro302Ser missense TRD Unknown Rett syndrome-Classical Female 2615 View details
c.904C>G g.153296375G>C p.Pro302Ala Missense TRD Unknown Rett syndrome-Preserved speech Female 120 View details
c.904C>G g.153296375G>C p.Pro302Ala Missense TRD Unknown Rett syndrome-Classical Female 318 View details
c.904C>G g.153296375G>C p.Pro302Ala missense TRD Unknown Rett syndrome-not certain Female 3080 View details
c.904C>G g.153296375G>C p.Pro302Ala missense TRD Unknown Rett syndrome-not certain Female 3140 View details
c.904C>A g.153296375G>T p.Pro302Thr missense TRD Unknown Rett syndrome-classical Female 3626 View details
c.898_904del7 g.153296375_153296381del7 p.Val300fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1620 View details
c.903C>T g.153296376G>A p.Leu301Leu Silent TRD Silent polymorphism Rett syndrome-Classical Female 1432 View details
c.881_902del22 g.153296377_153296398del22 p.Arg294fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3605 View details
c.898_901del g.153296378_153296381del p.Val300fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2890 View details
c.898G>A g.153296381C>T p.Val300Ile Missense TRD Unknown Rett syndrome-Classical Female 1400 View details
c.898G>A g.153296381C>T p.Val300Ile missense TRD Unknown Not Rett synd. Female 4880 View details
c.898G>A g.153296381C>T p.Val300Ile missense TRD Unknown Not Rett synd. Female 4881 View details
c.898delG g.153296381delC p.Val300fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3282 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 206 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 436 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Male 1020 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Unknown 1194 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 1540 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Unknown 1373 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 1566 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Male 1588 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1590 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 1809 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 1810 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1823 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1844 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1867 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 2007 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 2059 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 2089 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Atypical Female 2122 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 2376 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 2521 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 2654 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 4629 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 4630 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 4631 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Female 4815 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Rett syndrome-atypical Female 4862 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Male 5081 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Rett syndrome-not certain Female 5197 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 5198 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 5199 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 5200 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 5201 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 5202 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 5203 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 5204 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 5205 View details
c.897C>T g.153296382G>A silent TRD Silent polymorphism Not Rett synd. Female 6861 View details
c.897C>T g.153296382G>A silent TRD Silent polymorphism Not Rett synd. Female 6860 View details
c.889C>T g.153296390G>A p.Gln297* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1421 View details
c.889C>T g.153296390G>A p.Gln297* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1422 View details
c.880_884del5 g.153296395_153296399del5 p.Arg294fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1254 View details
c.883delT g.153296396delA p.Ser295fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3281 View details
c.881G>C g.153296398C>G p.Arg294Pro Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1903 View details
c.881G>C g.153296398C>G p.Arg294Pro Missense TRD Polymorphism not causing disease Not Rett synd. Male 1904 View details
c.863_881del19 g.153296398_153296416del19 p.Val288fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6629 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 101 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 102 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 119 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 148 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 181 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 182 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 183 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 184 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 203 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 204 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 249 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 250 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 251 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 252 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 282 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 283 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 314 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 315 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 316 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 317 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 343 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 344 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 345 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 346 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 378 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 387 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 388 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 393 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 403 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 410 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 420 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 478 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 947 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 945 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 926 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Forme fruste Unknown 909 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 907 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 908 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 905 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 906 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 904 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 874 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 873 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 872 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1100 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1101 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1102 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1103 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1104 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1105 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1106 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1166 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1167 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1168 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1211 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1229 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1230 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1260 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1261 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1341 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1342 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1343 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1344 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1345 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1346 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1347 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1348 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1349 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1350 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1351 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1352 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1353 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1354 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1378 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1418 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1419 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1420 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1453 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1519 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1689 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1690 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1694 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1701 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1718 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1728 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1731 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1760 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1784 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1785 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1791 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1840 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1901 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1902 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1928 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1934 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1953 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1956 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1958 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2048 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2052 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2064 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2308 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2309 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2310 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2311 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2312 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2313 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2314 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2315 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2316 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2317 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2318 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2319 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2397 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2403 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2445 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2449 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-male variant Male 2550 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2611 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2612 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2613 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2614 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-preserved speech Female 2647 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2828 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2859 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2864 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2880 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2881 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2901 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Rett synd. Female 2911 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2944 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2970 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2984 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2985 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3006 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3016 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3017 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3044 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3045 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3059 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3060 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3235 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3236 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3237 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3238 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3239 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3240 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3241 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3242 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3243 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3244 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3245 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3246 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3247 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3248 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3249 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3250 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3251 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3252 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3363 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3364 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3365 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3403 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3404 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-preserved speech Female 3405 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3504 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3505 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3506 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3591 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3592 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3593 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3732 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3733 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3734 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3735 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3736 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3737 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3738 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3739 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3740 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3741 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3742 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4090 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4091 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4129 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4130 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4131 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4132 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4133 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4134 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4293 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4294 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4295 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4296 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4297 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4298 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4309 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4384 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4385 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4499 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4500 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4501 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4502 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4503 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4504 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4505 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4724 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4725 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4726 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4727 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4847 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4913 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4921 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4930 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 5130 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Rett synd. Female 5131 View details
c.880C>T g.153296399G>A p.Arg294* Missense TRD Mutation associated with disease Not Known Female 6761 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6429 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6428 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Rett synd. Female 6427 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6426 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6425 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6424 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6423 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6422 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6421 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6420 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-forme fruste Female 6419 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6418 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6417 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6416 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6415 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6414 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6413 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6412 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6411 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 6410 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6409 View details
c.869_880delinsCACA g.153296399_153296410delinsTGTG p.Glu290Alafs*38 frameshift combined insertion and deletion TRD, C-term Mutation associated with disease Rett syndrome-classical Female 5060 View details
c.874_875insA g.153296404_153296405insT p.Ser292fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3008 View details
c.871T>G g.153296408A>C p.Ser291Ala Missense TRD Unknown Rett syndrome-Not certain Female 1141 View details
c.869dupA g.153296410dupT p.Ser291fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3912 View details
c.865_866delAA g.153296413_153296414delTT p.Lys289fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3280 View details
c.865A>T g.153296414T>A p.Lys289* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2105 View details
c.864dupG g.153296415dupC p.Lys289fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1799 View details
c.859G>C g.153296420C>G p.Ala287Pro Missense TRD Unknown Rett syndrome-Not certain Female 1140 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 35 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1607 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1841 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Atypical Female 2104 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2501 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2610 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3279 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3355 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3793 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6630 View details
c.857_858dupAA g.153296421_153296422dupTT p.Ala287Lysfs*3 frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6748 View details
c.857A>G g.153296422T>C p.Lys286Arg missense TRD Unknown Not Known Female 4498 View details
c.854dupA g.153296425dupT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1758 View details
c.850A>G g.153296429T>C p.Lys284Glu Missense TRD Unknown Not Rett synd. Male 1018 View details
c.849C>G g.153296430G>C p.Ala283Ala Silent TRD Silent polymorphism Not Rett synd. Male 1019 View details
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1127 View details
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1900 View details
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Not Known Female 2043 View details
c.843C>T g.153296436G>A p.Ala281Ala silent TRD Silent polymorphism Not Rett synd. Unknown 4619 View details
c.843C>T g.153296436G>A p.Ala281Ala silent TRD Silent polymorphism Not Rett synd. Unknown 5196 View details
c.842_843insT g.153296436_153296437insA p.Glu282fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6634 View details
c.840C>T g.153296439G>A p.Ala280Ala Silent TRD Silent polymorphism Not Rett synd. Female 1234 View details
c.840C>T g.153296439G>A p.Ala280Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1649 View details
c.840C>T g.153296439G>A p.Ala280Ala silent TRD Silent polymorphism Not Rett synd. Unknown 4633 View details
c.840C>T g.153296439G>A p.Ala280Ala silent TRD Silent polymorphism Not Rett synd. Unknown 4634 View details
c.836C>T g.153296443G>A p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 2990 View details
c.836C>T g.153296443G>A p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 2991 View details
c.836C>T g.153296443G>A p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 2992 View details
c.834C>T g.153296445G>A p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 19 View details
c.834C>T g.153296445G>A p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 47 View details
c.834C>T g.153296445G>A p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1593 View details
c.834C>T g.153296445G>A p.Ala278Ala silent TRD Silent polymorphism Not Rett synd. Male 3026 View details
c.834C>T g.153296445G>A p.Ala278Ala silent TRD Silent polymorphism Not Rett synd. Unknown 3920 View details
c.834C>T g.153296445G>A p.Ala278Ala silent TRD Silent polymorphism Not Rett synd. Unknown 3996 View details
c.834C>T g.153296445G>A silent TRD Silent polymorphism Rett syndrome-atypical Female 6859 View details
c.832G>A g.153296447C>T p.Ala278Thr missense TRD Polymorphism not causing disease Not Rett synd. Female 5236 View details
c.816_832del17 g.153296447_153296463del17 p.Gly273fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2609 View details
c.830delC g.153296449delG p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2882 View details
c.829delG g.153296450delC p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6631 View details
c.820_823dupAGTG g.153296456_153296459dupCACT p.Val275Glufs*57 frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6747 View details
c.819G>T g.153296460C>A p.Gly273Gly Silent TRD Silent polymorphism Not Rett synd. Female 442 View details
c.819G>T g.153296460C>A p.Gly273Gly Silent TRD Silent polymorphism Not Known Female 1735 View details
c.819G>T g.153296460C>A p.Gly273Gly Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1899 View details
c.819G>T g.153296460C>A p.Gly273Gly silent TRD Silent polymorphism Rett syndrome-Classical Female 2635 View details
c.819G>T g.153296460C>A p.Gly273Gly silent TRD Silent polymorphism Not Rett synd. Unknown 2653 View details
c.819G>T g.153296460C>A p.Gly273Gly silent TRD Silent polymorphism Not Rett synd. Unknown 5192 View details
c.819G>T g.153296460C>A p.Gly273Gly silent TRD Silent polymorphism Not Rett synd. Unknown 5193 View details
c.819G>T g.153296460C>A p.Gly273Gly silent TRD Silent polymorphism Not Rett synd. Unknown 5194 View details
c.819G>T g.153296460C>A p.Gly273Gly silent TRD Silent polymorphism Not Rett synd. Unknown 5195 View details
c.819G>T g.153296460C>A silent TRD Silent polymorphism Not Rett synd. Female 6858 View details
c.819delG g.153296460delC p.Ser274fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 4105 View details
c.812_818del7 g.153296461_153296467del7 p.Lys271fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 450 View details
c.785_818del34 g.153296461_153296494del34 p.Gln262fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 140 View details
c.815C>T g.153296464G>A p.Pro272Leu Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1652 View details
c.815C>T g.153296464G>A p.Pro272Leu Missense TRD Polymorphism not causing disease Not Rett synd. Male 1653 View details
c.815C>T g.153296464G>A p.Pro272Leu Missense TRD Polymorphism not causing disease Not Rett synd. Female 1654 View details
c.815C>T g.153296464G>A p.Pro272Leu Missense TRD Polymorphism not causing disease Rett syndrome-Atypical Female 2127 View details
c.815C>T g.153296464G>A p.Pro272Leu missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 2634 View details
c.815C>T g.153296464G>A p.Pro272Leu missense TRD Polymorphism not causing disease Not Rett synd. Male 2768 View details
c.815C>T g.153296464G>A p.Pro272Leu missense TRD Polymorphism not causing disease Not Rett synd. Female 3930 View details
c.815C>T g.153296464G>A p.Pro272Leu missense TRD Polymorphism not causing disease Not Rett synd. Male 3977 View details
c.810_813delAAAG g.153296466_153296469delCTTT p.Lys271fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3872 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 34 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 189 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1115 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1870 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2287 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2288 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 2793 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2797 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2798 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2861 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 2968 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3275 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3411 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3743 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3766 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4224 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-male variant Male 4225 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6605 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6604 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 8 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 93 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 94 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 95 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 96 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 97 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 98 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 99 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 100 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 116 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 117 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 118 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 130 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 178 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 179 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 180 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 201 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 202 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 246 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 247 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 248 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 279 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 280 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 281 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 310 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 311 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 312 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 313 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 338 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 339 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 340 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 341 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 358 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 371 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 382 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 389 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 390 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 392 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 401 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 417 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 455 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 460 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 464 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 943 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 941 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 940 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 922 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 920 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 903 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Unknown 901 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Unknown 902 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1092 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1093 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1094 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1095 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1096 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1097 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1098 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1099 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Rett synd. Female 1149 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1156 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1157 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1158 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1159 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1216 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1253 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1332 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1333 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1334 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1335 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1336 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1337 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1338 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1339 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1340 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1410 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1411 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1412 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1413 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1414 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1415 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1416 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1417 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Male variant Male 1435 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1474 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1475 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1476 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1515 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1516 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1517 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1518 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1595 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1619 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1626 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1643 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1681 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1684 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1688 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1703 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1709 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1738 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1772 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1775 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1781 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1782 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1783 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1828 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1831 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1849 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1860 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1868 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1898 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 1957 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1968 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 2012 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2289 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2290 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2291 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2292 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2293 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2294 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2295 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2296 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2297 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2298 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2299 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2300 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2301 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2302 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2303 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2304 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2305 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2306 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2307 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2410 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2414 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2435 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2439 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Congenital onset Female 2443 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2451 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2452 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2456 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2471 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2479 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2481 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2543 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2606 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2607 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2608 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2824 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2826 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2827 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2900 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2941 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2942 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2943 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 2969 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2983 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3043 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3055 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3056 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3057 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3058 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3217 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3218 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3219 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3220 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3221 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3222 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3223 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3224 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3225 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3226 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3227 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3228 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3229 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3230 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3231 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3232 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3233 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3234 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3360 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3400 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3401 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3402 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3492 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3493 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3494 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3495 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3496 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3497 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3498 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3499 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3500 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3501 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3502 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3503 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3584 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3585 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3586 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3587 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3588 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3589 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3590 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3717 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3718 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3719 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3720 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3721 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3722 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3723 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3724 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3725 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3726 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3727 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3728 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3729 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3730 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3731 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3795 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4068 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4069 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4149 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4150 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4151 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4266 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4267 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4268 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4269 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4270 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4271 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 4272 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4311 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4320 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4382 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4383 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4491 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4492 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4493 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4494 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4495 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4496 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4721 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4722 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4723 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4814 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4877 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4927 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4928 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4929 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 5058 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 5128 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 5129 View details
c.808C>T g.153296471G>A p.Arg270* nonsense NLS Mutation associated with disease Rett syndrome-classical Female 6746 View details
c.808C>T g.153296471G>A p.Arg270* nonsense NLS Mutation associated with disease Not Known Female 6745 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6450 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6449 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6448 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6447 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6446 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6445 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6444 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6443 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6441 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6442 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6440 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6439 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6438 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6437 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6436 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6435 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6434 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6432 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6433 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6431 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6430 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 21 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 137 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 308 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 309 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 342 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 472 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1113 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1114 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1148 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1426 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1452 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1495 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 1496 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Female 1497 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1498 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1618 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1680 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1702 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1744 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1812 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1843 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1896 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1897 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 1926 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 1965 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 1981 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 2010 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Male 2060 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2095 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2096 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2097 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2604 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2605 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 2794 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3007 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3268 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3269 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3270 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3271 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3272 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3273 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3274 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3598 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3599 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3600 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3601 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3602 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3603 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3604 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3765 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4071 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4707 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4850 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4915 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 5064 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 5065 View details
c.806delG g.153296473delC p.Gly269Alafs*20 frameshift insertion or deletion NLS Mutation associated with disease Rett syndrome-preserved speech Female 6744 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6610 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6609 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6608 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 6607 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6606 View details
c.806delG g.153296473delC p.Gly269fs nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6578 View details
c.799A>T g.153296480T>A p.Lys267* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2889 View details
c.795C>G g.153296484G>C p.Pro265Pro silent TRD-NLS Silent polymorphism Rett syndrome-atypical Female 4085 View details
c.792_793delTC g.153296486_153296487delGA p.Pro265fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1895 View details
c.784C>T g.153296495G>A p.Gln262* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3800 View details
c.784C>T g.153296495G>A p.Gln262* nonsense TRD-NLS Mutation associated with disease Not Known Female 4098 View details
c.766_779dup14 g.153296500_153296513dup14 p.Asp260fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3380 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Not certain Unknown 1374 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Not certain Unknown 1375 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Classical Female 1431 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Not Rett synd. Female 1846 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Not certain Female 1894 View details
c.777C>T g.153296502G>A p.Ala259Ala silent TRD-NLS Silent polymorphism Not Rett synd. Female 4387 View details
c.766A>T g.153296513T>A p.Lys256* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 5127 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 27 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 86 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 87 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 88 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 89 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 90 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 91 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 92 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 113 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 114 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 115 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 198 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 199 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 200 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 214 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 215 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 216 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 240 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 241 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 242 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 243 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 244 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 245 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 277 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 278 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 303 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 304 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 305 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 306 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 307 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 336 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 337 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 356 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 357 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 421 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 427 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 462 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 477 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 480 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 481 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 948 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 935 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 898 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome- Unknown 899 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 896 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 897 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 895 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 871 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 870 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 869 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 842 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1080 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1081 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1082 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1083 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1084 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1085 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1086 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1087 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1088 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1089 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1090 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1091 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1146 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1147 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1169 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1198 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1207 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1213 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1220 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1322 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1323 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1324 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1325 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1326 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1327 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1328 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1329 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1330 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1331 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1408 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1409 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1450 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1451 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1469 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1470 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1471 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1472 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1473 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1494 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Unknown 1510 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1511 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1512 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1513 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1514 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1591 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1602 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1605 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1608 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1623 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1730 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1733 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1739 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1747 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1750 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1753 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1759 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1769 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1786 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1797 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1803 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1804 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1854 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1892 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1893 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1920 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1921 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1922 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1936 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1938 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1944 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1962 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1963 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2018 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2020 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2031 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2034 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2042 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2263 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2264 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2265 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2266 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2267 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2268 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2269 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2270 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2271 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2272 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2273 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2274 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2275 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2276 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2277 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2278 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2279 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2280 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2281 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2282 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2283 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2284 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2285 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2286 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2398 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2402 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2412 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Congenital onset Female 2418 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Congenital onset Female 2426 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2431 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2433 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2434 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2446 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2459 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2465 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2473 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Forme fruste Female 2477 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2599 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2600 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2601 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2602 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2603 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 2769 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2821 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2822 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2860 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2879 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2897 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2898 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2899 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2940 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2965 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2966 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2967 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2981 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2982 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3005 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3041 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3042 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3061 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3201 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3202 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3203 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3204 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3205 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3206 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3207 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3208 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3209 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3210 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3211 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3212 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3213 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3214 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3215 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3216 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3370 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3371 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3372 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3373 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3479 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3480 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3481 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3482 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3483 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3484 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3485 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3486 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3487 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3488 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3489 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3490 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3491 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3579 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3580 View details