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Items: 1 to 100 of 692

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:153287263-153296261
MECP2Rett syndromePathogenic
(Jul 7, 2023)
criteria provided, single submitter
2.
GRCh37:
ChrX:153296522
GRCh38:
ChrX:154031071
MECP2R160fs, R253fs, R265fs, R30fsRett syndromeLikely pathogenicno assertion criteria provided
3.
GRCh37:
ChrX:153296078-153296166
GRCh38:
ChrX:154030627-154030715
MECP2H148fs, H278fs, H371fs, H383fsRett syndromePathogenic
(Apr 13, 2023)
criteria provided, single submitter
4.
GRCh37:
ChrX:153296339-153296359
GRCh38:
ChrX:154030888-154030908
MECP2Rett syndromeUncertain significancecriteria provided, single submitter
5.
GRCh37:
ChrX:153295818-153298008
MECP2Rett syndromePathogenic
(May 26, 2023)
criteria provided, single submitter
6.
GRCh37:
ChrX:153287263-153357641
MECP2Rett syndromePathogenic
(May 31, 2023)
criteria provided, single submitter
7.
GRCh37:
ChrX:153296497
GRCh38:
ChrX:154031046
MECP2P168fs, P261fs, P273fs, P38fsRett syndromeLikely pathogenic
(May 16, 2023)
criteria provided, single submitter
8.
GRCh38:
ChrX:154031853-154031854
MECP2Rett syndromeLikely pathogeniccriteria provided, single submitter
9.
GRCh37:
ChrX:153297712
GRCh38:
ChrX:154032261
MECP2L108P, L120P, L15PRett syndromeLikely pathogenic
(Apr 20, 2023)
criteria provided, single submitter
10.
GRCh37:
ChrX:153297685
GRCh38:
ChrX:154032234
MECP2A117G, A129G, A24GRett syndromeLikely pathogenic
(Feb 28, 2023)
criteria provided, single submitter
11.
GRCh37:
ChrX:153296066-153296115
GRCh38:
ChrX:154030615-154030664
MECP2Rett syndromeLikely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
12.
GRCh37:
ChrX:153295913
GRCh38:
ChrX:154030462
MECP2G233*, G363*, G456*, G468*Rett syndromeLikely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
13.
GRCh37:
ChrX:153296379-153296383
GRCh38:
ChrX:154030928-154030932
MECP2T206fs, T299fs, T311fs, T76fsRett syndromePathogenic
(Nov 13, 2019)
criteria provided, single submitter
14.
GRCh37:
Chr2:210561366
GRCh38:
Chr2:209696642
MAP2K1269N, K1422N, K1423N, K1426N, K1427N, K1504N, K1505N, K1509N, K184N, K185N, K28NRett syndromeUncertain significancecriteria provided, single submitter
15.
GRCh37:
ChrX:153296110
GRCh38:
ChrX:154030659
MECP2P167L, P297L, P390L, P402LRett syndromeUncertain significancecriteria provided, single submitter
16.
GRCh37:
ChrX:153296084-153296120
GRCh38:
ChrX:154030633-154030669
MECP2P164fs, P294fs, P387fs, P399fsRett syndromePathogenic
(Nov 13, 2022)
criteria provided, single submitter
17.
GRCh37:
ChrX:153296084-153296093
GRCh38:
ChrX:154030633-154030642
MECP2S173fs, S303fs, S396fs, S408fsRett syndromePathogenic
(Nov 13, 2022)
criteria provided, single submitter
18.
GRCh37:
ChrX:153297802-153297803
GRCh38:
ChrX:154032351-154032352
MECP2S78fs, S90fsRett syndromePathogenic
(Nov 13, 2022)
criteria provided, single submitter
19.
GRCh37:
ChrX:153296081-153296172
GRCh38:
ChrX:154030630-154030721
MECP2H147fs, H277fs, H370fs, H382fsRett syndromePathogenic
(Jul 16, 2021)
criteria provided, single submitter
20.
GRCh37:
ChrX:153296089-153296700
MECP2Rett syndromePathogenicno assertion criteria provided
21.
GRCh37:
ChrX:153295981-153296507
GRCh38:
ChrX:154030530-154031056
MECP2E165fs, E258fs, E270fs, E35fsRett syndromePathogenic
(Sep 5, 2022)
criteria provided, single submitter
22.
GRCh37:
ChrX:153296068-153297734
GRCh38:
ChrX:154030617-154032283
MECP2M1fs, P101fs, P113fs, P8fsAutism, susceptibility to, X-linked 3, Severe neonatal-onset encephalopathy with microcephaly, X-linked intellectual disability-psychosis-macroorchidism syndrome,
Rett syndrome, Syndromic X-linked intellectual disability Lubs type
Pathogenic
(Jan 28, 2022)
criteria provided, single submitter
23.
GRCh37:
ChrX:153297811-153297817
GRCh38:
ChrX:154032360-154032366
MECP2A73fs, A85fsRett syndromeLikely pathogenic
(Apr 28, 2022)
criteria provided, single submitter
24.
GRCh37:
ChrX:153296243
GRCh38:
ChrX:154030792
MECP2S123R, S253R, S346R, S358RRett syndromeLikely pathogenic
(Aug 1, 2021)
criteria provided, single submitter
25.
GRCh37:
ChrX:153296881
GRCh38:
ChrX:154031430
MECP2R133P, R145P, R40PRett syndromePathogenic
(Mar 7, 2022)
criteria provided, single submitter
26.
GRCh37:
ChrX:153296026-153357641
MECP2Rett syndromePathogenic
(Mar 24, 2022)
criteria provided, single submitter
27.
GRCh37:
ChrX:153296378
GRCh38:
ChrX:154030927
MECP2L208V, L301V, L78V, L313VInborn genetic diseases, Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome
Conflicting interpretations of pathogenicity
(Aug 23, 2022)
criteria provided, conflicting interpretations
28.
GRCh37:
ChrX:153297653
GRCh38:
ChrX:154032202
MECP2Severe neonatal-onset encephalopathy with microcephalyUncertain significance
(Jul 28, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr14:29236996-29236997
GRCh38:
Chr14:28767790-28767791
FOXG1E173fsRett syndromePathogenic
(Nov 4, 2021)
criteria provided, single submitter
30.
GRCh37:
ChrX:153296177
GRCh38:
ChrX:154030726
MECP2H145Y, H275Y, H368Y, H380YRett syndromeUncertain significance
(Apr 30, 2020)
criteria provided, single submitter
31.
GRCh37:
ChrX:153295812-153296106
GRCh38:
ChrX:154030361-154030655
MECP2E169fs, E299fs, E392fs, E404fsRett syndromePathogenic
(Oct 28, 2021)
criteria provided, single submitter
32.
GRCh37:
ChrX:153296072-153296106
GRCh38:
ChrX:154030621-154030655
MECP2Rett syndrome, Inborn genetic diseasesPathogenic/Likely pathogenic
(Oct 6, 2021)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
ChrX:153297673
GRCh38:
ChrX:154032222
MECP2D121V, D133V, D28VRett syndromeLikely pathogenic
(May 13, 2021)
criteria provided, single submitter
34.
GRCh37:
ChrX:153296850
GRCh38:
ChrX:154031399
MECP2Rett syndromeUncertain significance
(Jan 14, 2020)
criteria provided, single submitter
35.
GRCh37:
ChrX:153296169
GRCh38:
ChrX:154030718
MECP2H370Q, H382Q, H277Q, H147QRett syndromeUncertain significance
(Nov 15, 2019)
criteria provided, single submitter
36.
GRCh37:
ChrX:153296808
GRCh38:
ChrX:154031357
MECP2F157L, F169L, F64LSevere neonatal-onset encephalopathy with microcephaly, Rett syndromePathogenic/Likely pathogenic
(Oct 22, 2021)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
ChrX:153296080-153296162
GRCh38:
ChrX:154030629-154030711
MECP2S150fs, S280fs, S373fs, S385fsRett syndromePathogenic
(Dec 15, 2020)
no assertion criteria provided
38.
GRCh37:
ChrX:152649825-152988014
Rett syndromePathogenic
(Oct 1, 2020)
criteria provided, single submitter
39.
GRCh37:
ChrX:153287263-153363189
MECP2Rett syndromePathogenic
(Aug 21, 2020)
criteria provided, single submitter
40.
GRCh37:
ChrX:153297922-153297923
GRCh38:
ChrX:154032471-154032472
MECP2E38fs, E50fsRett syndrome, Intellectual disabilityPathogenic
(Feb 22, 2021)
criteria provided, single submitter
41.
GRCh37:
ChrX:153295955-153295956
GRCh38:
ChrX:154030504-154030505
MECP2Rett syndromeUncertain significance
(Jun 14, 2018)
criteria provided, single submitter
42.
GRCh37:
ChrX:153295987
GRCh38:
ChrX:154030536
MECP2K338T, K431T, K443TRett syndromeUncertain significance
(Jul 19, 2018)
criteria provided, single submitter
43.
GRCh37:
ChrX:153297890-153297891
GRCh38:
ChrX:154032439-154032440
MECP2S49fs, S61fsRett syndromeLikely pathogeniccriteria provided, single submitter
44.
GRCh37:
ChrX:153296146-153296147
GRCh38:
ChrX:154030695-154030696
MECP2A285fs, A378fs, A390fsRett syndromePathogenic
(Jun 19, 2020)
criteria provided, single submitter
45.
GRCh37:
ChrX:153363121
GRCh38:
ChrX:154097664
MECP2M1TRett syndromeLikely pathogenic
(Jan 22, 2018)
criteria provided, single submitter
46.
GRCh37:
ChrX:153296093-153296122
GRCh38:
ChrX:154030642-154030671
MECP2L293fs, L386fs, L398fsRett syndromeLikely pathogenic
(Aug 28, 2018)
criteria provided, single submitter
47.
GRCh37:
ChrX:153296106-153296275
MECP2Rett syndromePathogenic
(Jan 1, 2018)
criteria provided, single submitter
48.
GRCh37:
ChrX:153297740
GRCh38:
ChrX:154032289
MECP2T111P, T6P, T99PRett syndromeUncertain significance
(Mar 26, 2021)
reviewed by expert panel
FDA Recognized Database
49.
GRCh37:
ChrX:153297739-153297740
GRCh38:
ChrX:154032288-154032289
MECP2T111fs, T99fs, T6fsnot providedPathogenic
(Mar 18, 2019)
criteria provided, single submitter
50.
GRCh37:
ChrX:153297841
GRCh38:
ChrX:154032390
MECP2S77L, S65LRett syndromePathogenic
(Nov 8, 2018)
criteria provided, single submitter
51.
GRCh37:
ChrX:153296117
GRCh38:
ChrX:154030666
MECP2P388T, P295T, P400T, P165TRett syndromeUncertain significance
(Apr 18, 2017)
criteria provided, single submitter
52.
GRCh37:
ChrX:153293518-153296226
GRCh38:
ChrX:154028067-154030775
MECP2Rett syndromePathogenic
(Dec 14, 2015)
criteria provided, single submitter
53.
GRCh37:
ChrX:153296228-153298081
GRCh38:
ChrX:154030777-154032630
MECP2Rett syndromePathogenic
(Jan 18, 2018)
criteria provided, single submitter
54.
GRCh37:
ChrX:153363065-153363066
GRCh38:
ChrX:154097608-154097609
MECP2R20fsRett syndromePathogenic
(May 28, 2019)
criteria provided, single submitter
55.
GRCh37:
ChrX:153357593
GRCh38:
ChrX:154092135
MECP2Rett syndromeLikely benign
(May 28, 2019)
criteria provided, single submitter
56.
GRCh37:
ChrX:153357559
GRCh38:
ChrX:154092101
MECP2Rett syndromeBenign
(May 28, 2019)
criteria provided, single submitter
57.
GRCh37:
ChrX:153297759-153297760
GRCh38:
ChrX:154032308-154032309
MECP2P105fs, P93fsRett syndromePathogenic
(May 28, 2019)
criteria provided, single submitter
58.
GRCh37:
ChrX:153296813
GRCh38:
ChrX:154031362
MECP2D168Y, D156Y, D63YRett syndromeLikely pathogenic
(May 28, 2019)
criteria provided, single submitter
59.
GRCh37:
ChrX:153296774
GRCh38:
ChrX:154031323
MECP2E169*, E181*, E76*Severe neonatal-onset encephalopathy with microcephaly, Rett syndromePathogenic
(Dec 2, 2021)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
ChrX:153296762
GRCh38:
ChrX:154031311
MECP2P173T, P185T, P80Tnot provided, Rett syndromeConflicting interpretations of pathogenicity
(Aug 16, 2022)
criteria provided, conflicting interpretations
61.
GRCh37:
ChrX:153296529-153296530
GRCh38:
ChrX:154031078-154031079
MECP2G252fs, G159fs, G264fs, G29fsRett syndromePathogenic
(May 28, 2019)
criteria provided, single submitter
62.
GRCh37:
ChrX:153296108-153296162
GRCh38:
ChrX:154030657-154030711
MECP2S385fs, S373fs, S280fs, S150fsRett syndromePathogenic
(May 28, 2019)
criteria provided, single submitter
63.
GRCh37:
ChrX:153296022
GRCh38:
ChrX:154030571
MECP2Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly, X-linked intellectual disability-psychosis-macroorchidism syndrome,
Rett syndrome, Syndromic X-linked intellectual disability Lubs type, Autism, susceptibility to, X-linked 3
Benign/Likely benign
(Feb 11, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
ChrX:153296326-153296327
GRCh38:
ChrX:154030875-154030876
MECP2E318fs, E330fs, E225fs, E95fsRett syndromePathogenic
(Feb 4, 2019)
criteria provided, single submitter
65.
GRCh37:
ChrX:153296107-153296398
GRCh38:
ChrX:154030656-154030947
MECP2R201fs, R306fs, R294fs, R71fsRett syndromePathogenic
(Oct 8, 2018)
criteria provided, single submitter
66.
GRCh37:
ChrX:153297976
GRCh38:
ChrX:154032525
MECP2G20fs, G32fsRett syndromePathogenic
(Dec 5, 2017)
criteria provided, single submitter
67.
GRCh37:
ChrX:153296664-153296665
GRCh38:
ChrX:154031213-154031214
MECP2E112fs, E217fs, E205fsRett syndromePathogenic
(Nov 19, 2018)
criteria provided, single submitter
68.
GRCh37:
ChrX:153296548-153296551
GRCh38:
ChrX:154031097-154031100
MECP2T150fs, T243fs, T255fs, T20fsRett syndromeLikely pathogenic
(Oct 9, 2018)
criteria provided, single submitter
69.
GRCh37:
ChrX:153296324
GRCh38:
ChrX:154030873
MECP2V319M, V331M, V226M, V96MX-linked intellectual disability-psychosis-macroorchidism syndrome, Severe neonatal-onset encephalopathy with microcephaly, Autism, susceptibility to, X-linked 3,
Syndromic X-linked intellectual disability Lubs type, Rett syndrome
Uncertain significance
(Mar 30, 2021)
criteria provided, single submitter
70.
GRCh37:
ChrX:153363100-153363102
GRCh38:
ChrX:154097643-154097645
MECP2A8delnot provided, Severe neonatal-onset encephalopathy with microcephaly, Inborn genetic diseases,
Rett syndrome, Autism, susceptibility to, X-linked 3, Severe neonatal-onset encephalopathy with microcephaly,
Syndromic X-linked intellectual disability Lubs type, X-linked intellectual disability-psychosis-macroorchidism syndrome
Benign/Likely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
ChrX:153296004-153296578
GRCh38:
ChrX:154030553-154031127
MECP2A141fs, A234fs, A246fs, A11fsRett syndromePathogenic
(Nov 1, 2017)
criteria provided, single submitter
72.
GRCh37:
ChrX:153296254
GRCh38:
ChrX:154030803
MECP2P342R, P354R, P249R, P119RSevere neonatal-onset encephalopathy with microcephaly, Rett syndromeUncertain significance
(Jun 23, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
ChrX:153296079-153296124
ChrX:153296291-153296292
GRCh38:
ChrX:154030628-154030673
ChrX:154030840-154030841
MECP2, MECP2L293fs, L398fs, L163fs, K331fs, K238fs, K343fs, K108fsnot providedPathogenic
(Apr 3, 2015)
no assertion criteria provided
74.
GRCh37:
ChrX:153296080-153296115
GRCh38:
ChrX:154030629-154030664
MECP2P401fs, P296fs, P389fs, P166fsRett syndromeLikely pathogenic
(Aug 9, 2017)
criteria provided, single submitter
75.
GRCh37:
ChrX:153296710
GRCh38:
ChrX:154031259
MECP2R190H, R202H, R97HRett syndromeLikely pathogeniccriteria provided, single submitter
76.
GRCh37:
ChrX:153296181
GRCh38:
ChrX:154030730
MECP2not provided, Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome
Likely benign
(Jun 8, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
ChrX:153296141-153296142
GRCh38:
ChrX:154030690-154030691
MECP2V392fs, V287fs, V380fs, V157fsRett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome, not provided,
Severe neonatal-onset encephalopathy with microcephaly
Pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
ChrX:153296417
GRCh38:
ChrX:154030966
MECP2V288M, V300M, V195M, V65MHistory of neurodevelopmental disorder, Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
Benign/Likely benign
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
ChrX:153296425
GRCh38:
ChrX:154030974
MECP2K192fs, K297fs, K285fs, K62fsRett syndromeLikely pathogenic
(Nov 1, 2016)
criteria provided, single submitter
80.
GRCh37:
ChrX:153296439
GRCh38:
ChrX:154030988
MECP2A188fs, A293fs, A281fs, A58fsSevere neonatal-onset encephalopathy with microcephaly, Rett syndromePathogenic/Likely pathogenic
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
ChrX:153296142
GRCh38:
ChrX:154030691
MECP2V392fs, V380fs, V287fs, V157fsRett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome, Severe neonatal-onset encephalopathy with microcephaly
Pathogenic/Likely pathogenic
(Jul 25, 2023)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
ChrX:153296904
GRCh38:
ChrX:154031453
MECP2Rett syndromeBenign
(Feb 18, 2022)
reviewed by expert panel
FDA Recognized Database
83.
GRCh37:
ChrX:153296120-153296131
GRCh38:
ChrX:154030669-154030680
MECP2Rett syndromeUncertain significance
(Aug 28, 2023)
reviewed by expert panel
FDA Recognized Database
84.
GRCh37:
ChrX:153363059
GRCh38:
ChrX:154097602
MECP2Rett syndromePathogenic
(Mar 26, 2021)
reviewed by expert panel
FDA Recognized Database
85.
GRCh37:
ChrX:153296563
GRCh38:
ChrX:154031112
MECP2A239D, A251D, A146D, A16Dnot provided, Rett syndromeConflicting interpretations of pathogenicity
(Mar 20, 2017)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr8:22865223
GRCh38:
Chr8:23007710
RHOBTB2R511W, R489W, R496WInborn genetic diseases, Developmental and epileptic encephalopathy, 64, not provided,
Rett syndrome
Conflicting interpretations of pathogenicity
(Aug 28, 2021)
criteria provided, conflicting interpretations
87.
GRCh37:
ChrX:153296191-153296192
GRCh38:
ChrX:154030740-154030741
MECP2K363fs, K270fs, K375fs, K140fsRett syndromeLikely pathogenic
(Jan 1, 2018)
criteria provided, single submitter
88.
GRCh37:
ChrX:153296115-153296116
GRCh38:
ChrX:154030664-154030665
MECP2P401fs, P296fs, P389fs, P166fsInborn genetic diseases, Rett syndrome, not provided
Pathogenic/Likely pathogenic
(Feb 1, 2021)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr9:101133817
GRCh38:
Chr9:98371535
GABBR2A567TInborn genetic diseases, Rett syndrome, Epileptic encephalopathy,
Neurodevelopmental disorder with poor language and loss of hand skills, not provided
Pathogenic
(Oct 27, 2021)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
ChrX:153296828
GRCh38:
ChrX:154031377
MECP2D151Y, D163Y, D58Ynot provided, Rett syndromeLikely pathogenic
(May 28, 2019)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
ChrX:153297820
GRCh38:
ChrX:154032369
MECP2P72fs, P84fsRett syndromePathogenic
(Jan 15, 2016)
criteria provided, single submitter
92.
GRCh37:
ChrX:153296113-153296213
GRCh38:
ChrX:154030662-154030762
MECP2S264fs, S369fs, S357fs, S134fsRett syndromePathogenic
(Apr 2, 2015)
criteria provided, single submitter
93.
GRCh37:
ChrX:153297686-153297694
GRCh38:
ChrX:154032235-154032243
MECP2Rett syndromePathogeniccriteria provided, single submitter
94.
GRCh37:
ChrX:153296070-153296071
GRCh38:
ChrX:154030619-154030620
MECP2Severe neonatal-onset encephalopathy with microcephaly, not provided, Rett syndrome,
Autism, susceptibility to, X-linked 3
Pathogenic
(Mar 15, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
ChrX:153296504-153296505
GRCh38:
ChrX:154031053-154031054
MECP2Rett syndromePathogenic
(Oct 7, 2016)
no assertion criteria provided
96.
Congenital myasthenic syndrome 10Likely pathogenic
(Nov 12, 2013)
criteria provided, single submitter
97.
GRCh37:
ChrX:153297782
GRCh38:
ChrX:154032331
MECP2R85C, R97CRett syndromeUncertain significance
(Dec 8, 2022)
reviewed by expert panel
FDA Recognized Database
98.
GRCh37:
ChrX:153296589
GRCh38:
ChrX:154031138
MECP2G139fs, G244fs, G232fs, G9fsnot provided, Severe neonatal-onset encephalopathy with microcephalyPathogenic
(Jul 9, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
ChrX:153287264-153363188
MECP2X-linked intellectual disability-psychosis-macroorchidism syndrome, Angelman syndrome, Rett syndrome
Pathogenic
(Oct 27, 2016)
criteria provided, single submitter
100.
GRCh37:
ChrX:153296752
GRCh38:
ChrX:154031301
MECP2P188L, P176L, P83LSevere neonatal-onset encephalopathy with microcephaly, Rett syndromeUncertain significance
(Oct 6, 2021)
criteria provided, multiple submitters, no conflicts
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