GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 |
copy number gain |
See cases [RCV000133911] |
ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
NM_001110792.2(MECP2):c.138del (p.Asp46fs) |
deletion |
not provided [RCV000519737] |
ChrX:154032482 [GRCh38] ChrX:153297933 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.627G>C (p.Thr209=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001443966] |
ChrX:154031237 [GRCh38] ChrX:153296688 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1216_1233del (p.Glu406_Pro411del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002528413] |
ChrX:154030631..154030648 [GRCh38] ChrX:153296082..153296099 [GRCh37] ChrX:Xq28 |
likely benign |
NM_004992.4(MECP2):c.26+2T>A |
single nucleotide variant |
Rett syndrome [RCV000170166]|not provided [RCV000144092] |
ChrX:154092182 [GRCh38] ChrX:153357640 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.63-2A>G |
single nucleotide variant |
Rett syndrome [RCV000170180]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514773]|not provided [RCV000144093] |
ChrX:154032559 [GRCh38] ChrX:153298010 [GRCh37] ChrX:Xq28 |
pathogenic|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.63-55G>A |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000170264]|Rett syndrome [RCV003389409]|not provided [RCV000144094] |
ChrX:154032612 [GRCh38] ChrX:153298063 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.63-6C>G |
single nucleotide variant |
Rett syndrome [RCV000170187]|not provided [RCV000144095] |
ChrX:154032563 [GRCh38] ChrX:153298014 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.63-8C>G |
single nucleotide variant |
Rett syndrome [RCV000170265]|not provided [RCV000144096] |
ChrX:154032565 [GRCh38] ChrX:153298016 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.63-9A>G |
single nucleotide variant |
Rett syndrome [RCV000170266]|not provided [RCV000144097] |
ChrX:154032566 [GRCh38] ChrX:153298017 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.413+18C>G |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000170267]|Rett syndrome [RCV001800458]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514774]|not provided [RCV000144098]|not specified [RCV000605977] |
ChrX:154032189 [GRCh38] ChrX:153297640 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.413+1G>A |
single nucleotide variant |
Rett syndrome [RCV000170191]|not provided [RCV000144099] |
ChrX:154032206 [GRCh38] ChrX:153297657 [GRCh37] ChrX:Xq28 |
pathogenic|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.413+1G>T |
single nucleotide variant |
Rett syndrome [RCV000170192]|Stereotypic movement disorder [RCV000626871]|not provided [RCV000144100] |
ChrX:154032206 [GRCh38] ChrX:153297657 [GRCh37] ChrX:Xq28 |
pathogenic|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.413+22C>G |
single nucleotide variant |
Rett syndrome [RCV003380491]|not provided [RCV000144101]|not specified [RCV000168680] |
ChrX:154032185 [GRCh38] ChrX:153297636 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.413+24C>A |
single nucleotide variant |
Rett syndrome [RCV001800459]|Severe neonatal-onset encephalopathy with microcephaly [RCV001080116]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170268]|not provided [RCV000144102] |
ChrX:154032183 [GRCh38] ChrX:153297634 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.413+266T>C |
single nucleotide variant |
not provided [RCV000144103]|not specified [RCV000170089] |
ChrX:154031941 [GRCh38] ChrX:153297392 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.413+28A>G |
single nucleotide variant |
Rett syndrome [RCV000172865]|not provided [RCV000144104]|not specified [RCV000168681] |
ChrX:154032179 [GRCh38] ChrX:153297630 [GRCh37] ChrX:Xq28 |
benign|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.413+2T>G |
single nucleotide variant |
Rett syndrome [RCV000170269]|not provided [RCV000144105] |
ChrX:154032205 [GRCh38] ChrX:153297656 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.413+6_413+9del |
microsatellite |
Autism, susceptibility to, X-linked 3 [RCV000170270]|Rett syndrome [RCV001800460]|Severe neonatal-onset encephalopathy with microcephaly [RCV002512555]|not provided [RCV000144106]|not specified [RCV000614093] |
ChrX:154032198..154032201 [GRCh38] ChrX:153297649..153297652 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.413+95G>A |
single nucleotide variant |
Rett syndrome [RCV003389410]|not provided [RCV000144107]|not specified [RCV000170091] |
ChrX:154032112 [GRCh38] ChrX:153297563 [GRCh37] ChrX:Xq28 |
pathogenic|benign|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.414-109A>G |
single nucleotide variant |
Rett syndrome [RCV003380492]|not provided [RCV000144108]|not specified [RCV000170092] |
ChrX:154031559 [GRCh38] ChrX:153297010 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.414-14G>A |
single nucleotide variant |
Rett syndrome [RCV000170272]|Severe neonatal-onset encephalopathy with microcephaly [RCV002512556]|not provided [RCV000144109] |
ChrX:154031464 [GRCh38] ChrX:153296915 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.414-17del |
deletion |
Inborn genetic diseases [RCV002362776]|Rett syndrome [RCV000202549]|Severe neonatal-onset encephalopathy with microcephaly [RCV002055862]|not provided [RCV000144110]|not specified [RCV000168682] |
ChrX:154031467 [GRCh38] ChrX:153296918 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
NM_001110792.2(MECP2):c.414-241C>T |
single nucleotide variant |
not provided [RCV000144111]|not specified [RCV000170093] |
ChrX:154031691 [GRCh38] ChrX:153297142 [GRCh37] ChrX:Xq28 |
pathogenic|benign|not provided |
NM_001110792.2(MECP2):c.414-2A>C |
single nucleotide variant |
Rett syndrome [RCV000170198]|not provided [RCV000144112] |
ChrX:154031452 [GRCh38] ChrX:153296903 [GRCh37] ChrX:Xq28 |
pathogenic|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.414-2A>G |
single nucleotide variant |
Rett syndrome [RCV000170199]|not provided [RCV000144113] |
ChrX:154031452 [GRCh38] ChrX:153296903 [GRCh37] ChrX:Xq28 |
pathogenic|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.414-2A>T |
single nucleotide variant |
Rett syndrome [RCV000170200]|not provided [RCV000144114] |
ChrX:154031452 [GRCh38] ChrX:153296903 [GRCh37] ChrX:Xq28 |
pathogenic|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.414-3C>G |
single nucleotide variant |
Inborn genetic diseases [RCV002345450]|Rett syndrome [RCV000170202]|Severe neonatal-onset encephalopathy with microcephaly [RCV000800164]|Severe neonatal-onset encephalopathy with microcephaly [RCV003224800]|not provided [RCV000144115]|not specified [RCV001000857] |
ChrX:154031453 [GRCh38] ChrX:153296904 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.414-3_419del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000170201]|not provided [RCV000144116] |
ChrX:154031445..154031453 [GRCh38] ChrX:153296896..153296904 [GRCh37] ChrX:Xq28 |
pathogenic|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.414-61C>G |
single nucleotide variant |
X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170273]|not provided [RCV000144117] |
ChrX:154031511 [GRCh38] ChrX:153296962 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.414-74C>G |
single nucleotide variant |
not provided [RCV000144118] |
ChrX:154031524 [GRCh38] ChrX:153296975 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.414-74C>T |
single nucleotide variant |
Rett syndrome [RCV003380493]|not provided [RCV000144119]|not specified [RCV000170095] |
ChrX:154031524 [GRCh38] ChrX:153296975 [GRCh37] ChrX:Xq28 |
pathogenic|benign|not provided |
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs) |
deletion |
Rett syndrome [RCV000170135]|Severe neonatal-onset encephalopathy with microcephaly [RCV001383624]|not provided [RCV000144423] |
ChrX:154030627..154030712 [GRCh38] ChrX:153296078..153296163 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.1(MECP2):c.787dupC (p.Gly264Argfs) |
duplication |
not provided [RCV000144424] |
ChrX:154031078 [GRCh38] ChrX:153296528 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) |
single nucleotide variant |
Rett syndrome [RCV000030161]|Seizure [RCV001256044]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645112]|not provided [RCV001703425]|not specified [RCV000132845] |
ChrX:154030756 [GRCh38] ChrX:153296207 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) |
single nucleotide variant |
Rett syndrome [RCV003162262]|Severe neonatal-onset encephalopathy with microcephaly [RCV000822137]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170251]|not provided [RCV001582501]|not specified [RCV000588422] |
ChrX:154030677 [GRCh38] ChrX:153296128 [GRCh37] ChrX:Xq28 |
likely pathogenic|likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002381273]|Intellectual disability [RCV001251833]|Rett syndrome [RCV002472321]|Severe neonatal-onset encephalopathy with microcephaly [RCV001079728]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170261]|not provided [RCV000415982]|not specified [RCV000438624] |
ChrX:154030501 [GRCh38] ChrX:153295952 [GRCh37] ChrX:Xq28 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) |
single nucleotide variant |
Rett syndrome [RCV000030164]|Severe neonatal-onset encephalopathy with microcephaly [RCV001057144]|not provided [RCV000724867]|not specified [RCV000194612] |
ChrX:154030387 [GRCh38] ChrX:153295838 [GRCh37] ChrX:Xq28 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter) |
single nucleotide variant |
Rett syndrome [RCV000030165] |
ChrX:154031254 [GRCh38] ChrX:153296705 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000133270]|Inborn genetic diseases [RCV002371791]|Rett syndrome [RCV000030166]|Syndromic X-linked intellectual disability Lubs type [RCV002274901] |
ChrX:154030930 [GRCh38] ChrX:153296381 [GRCh37] ChrX:Xq28 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) |
single nucleotide variant |
Rett syndrome [RCV000030167]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133285] |
ChrX:154030919 [GRCh38] ChrX:153296370 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002316203]|Rett syndrome [RCV000030168]|Severe neonatal-onset encephalopathy with microcephaly [RCV001089108]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133294]|not provided [RCV000712288]|not specified [RCV000426076] |
ChrX:154030896 [GRCh38] ChrX:153296347 [GRCh37] ChrX:Xq28 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) |
single nucleotide variant |
Rett syndrome [RCV000133194]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000012615] |
ChrX:154031154 [GRCh38] ChrX:153296605 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1192_1224del (p.Leu398_Ser408del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000012616] |
ChrX:154030640..154030672 [GRCh38] ChrX:153296091..153296123 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) |
single nucleotide variant |
Rett syndrome [RCV000416315]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000012617]|not provided [RCV001090501] |
ChrX:154030864 [GRCh38] ChrX:153296315 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) |
single nucleotide variant |
Rett syndrome [RCV000991003]|Rett syndrome, zappella variant [RCV000012618]|Severe neonatal-onset encephalopathy with microcephaly [RCV000763200]|Severe neonatal-onset encephalopathy with microcephaly [RCV001246099]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133115]|not provided [RCV000492792] |
ChrX:154031374 [GRCh38] ChrX:153296825 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) |
single nucleotide variant |
Rett syndrome [RCV000012619]|Severe neonatal-onset encephalopathy with microcephaly [RCV001851806] |
ChrX:154097661 [GRCh38] ChrX:153363118 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV000622858]|Severe neonatal-onset encephalopathy with microcephaly [RCV001849957]|not provided [RCV000132944] |
ChrX:154030650 [GRCh38] ChrX:153296101 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1214_1221del (p.Pro405fs) |
deletion |
not provided [RCV000132945] |
ChrX:154030643..154030650 [GRCh38] ChrX:153296094..153296101 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.153dup (p.Glu52fs) |
duplication |
Rett syndrome [RCV000132946] |
ChrX:154032466..154032467 [GRCh38] ChrX:153297917..153297918 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys) |
single nucleotide variant |
Rett syndrome [RCV000445563]|Severe neonatal-onset encephalopathy with microcephaly [RCV001512332]|not specified [RCV000132947] |
ChrX:154030648 [GRCh38] ChrX:153296099 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs) |
deletion |
Rett syndrome [RCV000445571]|not provided [RCV000132948] |
ChrX:154030623..154030648 [GRCh38] ChrX:153296074..153296099 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1217_1227del (p.Glu406fs) |
deletion |
not provided [RCV000132949] |
ChrX:154030637..154030647 [GRCh38] ChrX:153296088..153296098 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1221_1227del (p.Ser407fs) |
deletion |
not provided [RCV000132950] |
ChrX:154030637..154030643 [GRCh38] ChrX:153296088..153296094 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.746del (p.Gly249fs) |
deletion |
Inborn genetic diseases [RCV002362579]|Rett syndrome [RCV000012620]|Severe neonatal-onset encephalopathy with microcephaly [RCV001045878]|not specified [RCV000506656] |
ChrX:154031118 [GRCh38] ChrX:153296569 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1225G>T (p.Glu409Ter) |
single nucleotide variant |
Rett syndrome [RCV000132951] |
ChrX:154030639 [GRCh38] ChrX:153296090 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1225_1232del (p.Glu409fs) |
deletion |
not provided [RCV000132952] |
ChrX:154030632..154030639 [GRCh38] ChrX:153296083..153296090 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1226dup (p.Asp410fs) |
duplication |
Rett syndrome [RCV000132954] |
ChrX:154030637..154030638 [GRCh38] ChrX:153296088..153296089 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1230_1231insT (p.Pro411fs) |
insertion |
Rett syndrome [RCV000132955] |
ChrX:154030633..154030634 [GRCh38] ChrX:153296084..153296085 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1232C>T (p.Pro411Leu) |
single nucleotide variant |
Rett syndrome [RCV003380460]|Severe neonatal-onset encephalopathy with microcephaly [RCV000861155]|not provided [RCV001310755]|not specified [RCV000132956] |
ChrX:154030632 [GRCh38] ChrX:153296083 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.1233dup (p.Thr412fs) |
duplication |
Rett syndrome [RCV000132958]|not provided [RCV001812115] |
ChrX:154030630..154030631 [GRCh38] ChrX:153296081..153296082 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs) |
microsatellite |
Rett syndrome [RCV000170105]|Severe neonatal-onset encephalopathy with microcephaly [RCV000132959] |
ChrX:154032464..154032465 [GRCh38] ChrX:153297915..153297916 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1236dup (p.Ser413fs) |
duplication |
Rett syndrome [RCV000132960] |
ChrX:154030627..154030628 [GRCh38] ChrX:153296078..153296079 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1238G>A (p.Ser413Asn) |
single nucleotide variant |
Rett syndrome [RCV003380461]|Severe neonatal-onset encephalopathy with microcephaly [RCV002055850]|not specified [RCV000132961] |
ChrX:154030626 [GRCh38] ChrX:153296077 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1238dup (p.Ser413fs) |
duplication |
Rett syndrome [RCV000132962] |
ChrX:154030625..154030626 [GRCh38] ChrX:153296076..153296077 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1242C>T (p.Pro414=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000456666]|not provided [RCV001719906]|not specified [RCV000132963] |
ChrX:154030622 [GRCh38] ChrX:153296073 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) |
single nucleotide variant |
Rett syndrome [RCV000225647]|Severe neonatal-onset encephalopathy with microcephaly [RCV001004759]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000169944]|not provided [RCV000132964] |
ChrX:154030614 [GRCh38] ChrX:153296065 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1250_1266del (p.Pro417fs) |
deletion |
Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome [RCV000146351]|Rett syndrome [RCV003380462]|not provided [RCV000132965] |
ChrX:154030598..154030614 [GRCh38] ChrX:153296049..153296065 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1251C>T (p.Pro417=) |
single nucleotide variant |
Inborn genetic diseases [RCV002354325]|Rett syndrome [RCV003380463]|Severe neonatal-onset encephalopathy with microcephaly [RCV000477111]|not provided [RCV001704059]|not specified [RCV000132966] |
ChrX:154030613 [GRCh38] ChrX:153296064 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) |
single nucleotide variant |
Rett syndrome [RCV000169933]|Severe neonatal-onset encephalopathy with microcephaly [RCV001057731]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170106]|not provided [RCV000132967] |
ChrX:154030612 [GRCh38] ChrX:153296063 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1259_1301del (p.Leu420fs) |
deletion |
Rett syndrome [RCV000132968] |
ChrX:154030563..154030605 [GRCh38] ChrX:153296014..153296056 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1265G>A (p.Ser422Asn) |
single nucleotide variant |
Rett syndrome [RCV000132969] |
ChrX:154030599 [GRCh38] ChrX:153296050 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1268_1272del (p.Ser423fs) |
deletion |
not provided [RCV000132970] |
ChrX:154030592..154030596 [GRCh38] ChrX:153296043..153296047 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1268_1276del (p.Ser423_Cys425del) |
deletion |
not provided [RCV000132971] |
ChrX:154030588..154030596 [GRCh38] ChrX:153296039..153296047 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002371978]|Rett syndrome [RCV003380464]|Severe neonatal-onset encephalopathy with microcephaly [RCV000867045]|not provided [RCV001701614]|not specified [RCV000132973] |
ChrX:154030594 [GRCh38] ChrX:153296045 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.1120C>G (p.Pro374Ala) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000547379] |
ChrX:154030744 [GRCh38] ChrX:153296195 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001110792.2(MECP2):c.1189_1226del (p.Pro397fs) |
deletion |
Rett syndrome [RCV000132881] |
ChrX:154030638..154030675 [GRCh38] ChrX:153296089..153296126 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1190_1221del (p.Pro397fs) |
deletion |
Rett syndrome [RCV000132882] |
ChrX:154030643..154030674 [GRCh38] ChrX:153296094..153296125 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1190_1233del (p.Pro397fs) |
deletion |
Rett syndrome [RCV000132883] |
ChrX:154030631..154030674 [GRCh38] ChrX:153296082..153296125 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1191_1208del (p.Leu398_Pro403del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001418755]|not provided [RCV000132884] |
ChrX:154030656..154030673 [GRCh38] ChrX:153296107..153296124 [GRCh37] ChrX:Xq28 |
likely benign|not provided |
NM_001110792.2(MECP2):c.1191_1219del (p.Pro399fs) |
deletion |
Rett syndrome [RCV000132885] |
ChrX:154030645..154030673 [GRCh38] ChrX:153296096..153296124 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) |
deletion |
Rett syndrome [RCV000132886]|Severe neonatal-onset encephalopathy with microcephaly [RCV001387825]|Syndromic X-linked intellectual disability Lubs type [RCV003333027]|not provided [RCV000479970] |
ChrX:154030628..154030673 [GRCh38] ChrX:153296079..153296124 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1192_1193dup (p.Pro399fs) |
duplication |
Rett syndrome [RCV000132887] |
ChrX:154030670..154030671 [GRCh38] ChrX:153296121..153296122 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1192_1208del (p.Pro397_Leu398insTer) |
deletion |
Rett syndrome [RCV000132888] |
ChrX:154030656..154030672 [GRCh38] ChrX:153296107..153296123 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1192_1233del (p.Leu398_Pro411del) |
deletion |
Rett syndrome [RCV000132889] |
ChrX:154030631..154030672 [GRCh38] ChrX:153296082..153296123 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1192_1236del (p.Leu398_Thr412del) |
deletion |
Rett syndrome [RCV000132890] |
ChrX:154030628..154030672 [GRCh38] ChrX:153296079..153296123 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1193_1223del (p.Leu398fs) |
deletion |
Rett syndrome [RCV000132891] |
ChrX:154030641..154030671 [GRCh38] ChrX:153296092..153296122 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs) |
deletion |
Rett syndrome [RCV000168702]|Severe neonatal-onset encephalopathy with microcephaly [RCV001035576]|not provided [RCV003326356] |
ChrX:154030640..154030671 [GRCh38] ChrX:153296091..153296122 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1193_1227del (p.Leu398fs) |
deletion |
Rett syndrome [RCV003483510]|not provided [RCV000132893] |
ChrX:154030637..154030671 [GRCh38] ChrX:153296088..153296122 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1193_1228del (p.Leu398_Asp410delinsHis) |
deletion |
Rett syndrome [RCV003483511]|not specified [RCV000132894] |
ChrX:154030636..154030671 [GRCh38] ChrX:153296087..153296122 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) |
deletion |
Autism, susceptibility to, X-linked 3 [RCV000170099]|Rett syndrome [RCV000168701]|Rett syndrome, zappella variant [RCV000012592]|See cases [RCV002251999]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645107]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000169930]|not provided [RCV000132895] |
ChrX:154030631..154030671 [GRCh38] ChrX:153296082..153296122 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|risk factor|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.1193_1235del (p.Leu398fs) |
deletion |
Rett syndrome [RCV000132896] |
ChrX:154030629..154030671 [GRCh38] ChrX:153296080..153296122 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) |
deletion |
Angelman syndrome [RCV000132897]|MECP2-related condition [RCV003390827]|Rett syndrome [RCV000170100]|Severe neonatal-onset encephalopathy with microcephaly [RCV000473761]|not provided [RCV000756326] |
ChrX:154030628..154030671 [GRCh38] ChrX:153296079..153296122 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1194_1203del (p.Pro399fs) |
deletion |
Rett syndrome [RCV000132898] |
ChrX:154030661..154030670 [GRCh38] ChrX:153296112..153296121 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1194_1222del (p.Pro399fs) |
deletion |
Rett syndrome [RCV000132899] |
ChrX:154030642..154030670 [GRCh38] ChrX:153296093..153296121 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1194_1222delinsCCA (p.Pro399fs) |
indel |
Rett syndrome [RCV000132900] |
ChrX:154030642..154030670 [GRCh38] ChrX:153296093..153296121 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1194_1234del (p.Pro399fs) |
deletion |
Rett syndrome [RCV000132901] |
ChrX:154030630..154030670 [GRCh38] ChrX:153296081..153296121 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1194_1236del (p.Pro399fs) |
deletion |
Rett syndrome [RCV000132902] |
ChrX:154030628..154030670 [GRCh38] ChrX:153296079..153296121 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.1(MECP2):c.1194_1237del44 (p.Pro401Terfs) |
deletion |
not provided [RCV000132903] |
ChrX:154030627..154030670 [GRCh38] ChrX:153296078..153296121 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs) |
indel |
Rett syndrome [RCV000132904]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170101] |
ChrX:154030668..154030669 [GRCh38] ChrX:153296119..153296120 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1195_1210del (p.Pro399fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002514762]|not provided [RCV000132905] |
ChrX:154030654..154030669 [GRCh38] ChrX:153296105..153296120 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.1(MECP2):c.1195_1229del35 (p.Pro400Hisfs) |
deletion |
not provided [RCV000132906] |
ChrX:154030635..154030669 [GRCh38] ChrX:153296086..153296120 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1195_1237del (p.Pro399fs) |
deletion |
Rett syndrome [RCV000132907] |
ChrX:154030627..154030669 [GRCh38] ChrX:153296078..153296120 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002371977]|Rett syndrome [RCV001800445]|Severe neonatal-onset encephalopathy with microcephaly [RCV001087050]|Severe neonatal-onset encephalopathy with microcephaly [RCV002498651]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000132908]|not provided [RCV000224689]|not specified [RCV000608016] |
ChrX:154030668 [GRCh38] ChrX:153296119 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1196_1202del (p.Pro399fs) |
deletion |
Rett syndrome [RCV000132909]|not provided [RCV000414136] |
ChrX:154030662..154030668 [GRCh38] ChrX:153296113..153296119 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1196_1216del (p.Pro399_Glu406delinsGln) |
deletion |
Rett syndrome [RCV000132910] |
ChrX:154030648..154030668 [GRCh38] ChrX:153296099..153296119 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1196_1221del (p.Pro399fs) |
deletion |
Rett syndrome [RCV000132911] |
ChrX:154030643..154030668 [GRCh38] ChrX:153296094..153296119 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1196_1224del (p.Pro399fs) |
deletion |
Rett syndrome [RCV000132912] |
ChrX:154030640..154030668 [GRCh38] ChrX:153296091..153296119 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs) |
deletion |
Rett syndrome [RCV000132913]|not provided [RCV000486453] |
ChrX:154030628..154030668 [GRCh38] ChrX:153296079..153296119 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1197_1199del (p.Pro403del) |
deletion |
not provided [RCV000132915]|not specified [RCV000602397] |
ChrX:154030665..154030667 [GRCh38] ChrX:153296116..153296118 [GRCh37] ChrX:Xq28 |
likely benign|not provided |
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del) |
deletion |
Angelman syndrome [RCV000170256]|Rett syndrome [RCV002472323]|Severe neonatal-onset encephalopathy with microcephaly [RCV002055849]|not provided [RCV000132916] |
ChrX:154030662..154030667 [GRCh38] ChrX:153296113..153296118 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1197_1205del (p.Pro401_Pro403del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001857481]|not provided [RCV000132917] |
ChrX:154030659..154030667 [GRCh38] ChrX:153296110..153296118 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1197_1241delinsA (p.Pro400_Pro401insTer) |
indel |
Rett syndrome [RCV000132918] |
ChrX:154030623..154030667 [GRCh38] ChrX:153296074..153296118 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002515928]|Intellectual disability [RCV001257761]|Rett syndrome [RCV000169943]|Severe neonatal-onset encephalopathy with microcephaly [RCV001078768]|not provided [RCV000726321] |
ChrX:154030666 [GRCh38] ChrX:153296117 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1198_1199del (p.Pro400fs) |
deletion |
Rett syndrome [RCV003483512]|not provided [RCV000132920] |
ChrX:154030665..154030666 [GRCh38] ChrX:153296116..153296117 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) |
indel |
Inborn genetic diseases [RCV002354324]|Intellectual disability [RCV000851513]|Severe neonatal-onset encephalopathy with microcephaly [RCV001849955]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000132921]|not provided [RCV000598706] |
ChrX:154030665..154030666 [GRCh38] ChrX:153296116..153296117 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del) |
deletion |
Rett syndrome [RCV001800446]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645134]|not provided [RCV000488269]|not specified [RCV000132922] |
ChrX:154030649..154030666 [GRCh38] ChrX:153296100..153296117 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1198_1227del (p.Pro400_Glu409del) |
deletion |
Rett syndrome [RCV000132923] |
ChrX:154030637..154030666 [GRCh38] ChrX:153296088..153296117 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu) |
single nucleotide variant |
Rett syndrome [RCV000132924]|Severe neonatal-onset encephalopathy with microcephaly [RCV001519066]|not provided [RCV000693901] |
ChrX:154030665 [GRCh38] ChrX:153296116 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1199_1209del (p.Pro400fs) |
deletion |
not provided [RCV000132925] |
ChrX:154030655..154030665 [GRCh38] ChrX:153296106..153296116 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1199_1215del (p.Pro400fs) |
deletion |
Rett syndrome [RCV000132926]|not provided [RCV001268421] |
ChrX:154030649..154030665 [GRCh38] ChrX:153296100..153296116 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs) |
deletion |
Inborn genetic diseases [RCV002321617]|Rett syndrome [RCV000132927] |
ChrX:154030640..154030665 [GRCh38] ChrX:153296091..153296116 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) |
deletion |
Rett syndrome [RCV000132928]|Severe neonatal-onset encephalopathy with microcephaly [RCV001383623]|not provided [RCV000132906] |
ChrX:154030631..154030665 [GRCh38] ChrX:153296082..153296116 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1199_1237del (p.Pro400_Ser413delinsArg) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000132929] |
ChrX:154030627..154030665 [GRCh38] ChrX:153296078..153296116 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1200_1208del (p.Pro401_Pro403del) |
deletion |
Rett syndrome [RCV000132930]|Severe neonatal-onset encephalopathy with microcephaly [RCV001208707] |
ChrX:154030656..154030664 [GRCh38] ChrX:153296107..153296115 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1200_1242del (p.Pro401fs) |
deletion |
Rett syndrome [RCV000132931] |
ChrX:154030622..154030664 [GRCh38] ChrX:153296073..153296115 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) |
deletion |
Autism, susceptibility to, X-linked 3 [RCV000169931]|Delayed speech and language development [RCV000415090]|Inborn genetic diseases [RCV000624849]|MECP2-Related Disorders [RCV003323414]|Rett syndrome [RCV000170103]|Rett syndrome, zappella variant [RCV000012595]|See cases [RCV001420272]|Severe neonatal-onset encephalopathy with microcephaly [RCV000169932]|Severe neonatal-onset encephalopathy with microcephaly [RCV000768267]|Smith-Magenis Syndrome-like [RCV000491803]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170102]|not provided [RCV000132932]|not specified [RCV001002125] |
ChrX:154030621..154030664 [GRCh38] ChrX:153296072..153296115 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1200_1244del (p.Pro401_Pro415del) |
deletion |
Rett syndrome [RCV000132933] |
ChrX:154030620..154030664 [GRCh38] ChrX:153296071..153296115 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1200del (p.Pro401fs) |
deletion |
Rett syndrome [RCV000132934] |
ChrX:154030664 [GRCh38] ChrX:153296115 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1201_1226del (p.Pro401fs) |
deletion |
Rett syndrome [RCV000132935]|Severe neonatal-onset encephalopathy with microcephaly [RCV001383622] |
ChrX:154030638..154030663 [GRCh38] ChrX:153296089..153296114 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1203_1212del (p.Pro403fs) |
deletion |
not provided [RCV000132936] |
ChrX:154030652..154030661 [GRCh38] ChrX:153296103..153296112 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs) |
deletion |
Rett syndrome [RCV000132937]|Severe neonatal-onset encephalopathy with microcephaly [RCV001849956] |
ChrX:154030628..154030661 [GRCh38] ChrX:153296079..153296112 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del) |
microsatellite |
Rett syndrome [RCV000445582]|Severe neonatal-onset encephalopathy with microcephaly [RCV001080264]|not provided [RCV000132938]|not specified [RCV000169922] |
ChrX:154030655..154030660 [GRCh38] ChrX:153296106..153296111 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer) |
deletion |
Rett syndrome [RCV000192997]|not provided [RCV000132940] |
ChrX:154030621..154030658 [GRCh38] ChrX:153296072..153296109 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1209_1224del (p.Glu404fs) |
deletion |
not provided [RCV000132941] |
ChrX:154030640..154030655 [GRCh38] ChrX:153296091..153296106 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1212G>A (p.Glu404=) |
single nucleotide variant |
Rett syndrome [RCV003380458]|not specified [RCV000132942] |
ChrX:154030652 [GRCh38] ChrX:153296103 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.1212_1229del (p.Glu404_Glu409del) |
deletion |
not provided [RCV000132943] |
ChrX:154030635..154030652 [GRCh38] ChrX:153296086..153296103 [GRCh37] ChrX:Xq28 |
not provided |
NM_004992.3(MECP2):c.(?_-1)_(26_?)del |
deletion |
Rett syndrome [RCV000132824] |
|
pathogenic|not provided |
NM_004992.3(MECP2):c.1-?dup |
duplication |
Rett syndrome [RCV000132825] |
ChrX:154021812..154092209 [GRCh38] ChrX:Xq28 |
uncertain significance|not provided |
NM_004992.3(MECP2):c.(?_1169)_(1170_?)del (p.(?)) |
deletion |
Rett syndrome [RCV000132939] |
|
pathogenic|not provided |
NM_001110792.2(MECP2):c.1225_1267inv (p.Glu409_Ser423delinsCysCysSerSerProGlyAlaGlnGlyGlyTrpTrpGlyProArg) |
inversion |
not provided [RCV000132953] |
ChrX:154030597..154030639 [GRCh38] ChrX:153296048..153296090 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1233_1273inv (p.Thr412_Cys425delinsAspAlaAlaAlaGlnValLeuGlyLeuArgGlyAlaGlyGly) |
inversion |
not provided [RCV000132957] |
ChrX:154030591..154030631 [GRCh38] ChrX:153296042..153296082 [GRCh37] ChrX:Xq28 |
not provided |
NM_004992.3(MECP2):c.(?_1367)_(1431_?)del (p.(?)) |
deletion |
Rett syndrome [RCV000133001] |
|
pathogenic|not provided |
NM_004992.3(MECP2):c.(?_631)_(657_?)del (p.(?)) |
deletion |
Rett syndrome [RCV000133183] |
|
pathogenic|not provided |
NM_001110792.2(MECP2):c.786delinsTCAGGAAGCTT (p.Pro263fs) |
indel |
Rett syndrome [RCV000133224] |
ChrX:154031078 [GRCh38] ChrX:153296529 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.*1134G>A |
single nucleotide variant |
Rett syndrome [RCV003380421]|not specified [RCV000132773] |
ChrX:154029233 [GRCh38] ChrX:153294684 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*122del |
deletion |
Rett syndrome [RCV000132774] |
ChrX:154030245 [GRCh38] ChrX:153295696 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*1237T>C |
single nucleotide variant |
Rett syndrome [RCV003380422]|not specified [RCV000132775] |
ChrX:154029130 [GRCh38] ChrX:153294581 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*1368C>A |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000132776]|Rett syndrome [RCV003380423]|not provided [RCV003133147] |
ChrX:154028999 [GRCh38] ChrX:153294450 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*1737G>A |
single nucleotide variant |
Rett syndrome [RCV003380424]|not specified [RCV000132777] |
ChrX:154028630 [GRCh38] ChrX:153294081 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*177G>C |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000132778] |
ChrX:154030190 [GRCh38] ChrX:153295641 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.*204G>A |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000132779]|Rett syndrome [RCV003380425] |
ChrX:154030163 [GRCh38] ChrX:153295614 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.*2556T>A |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000132780]|Rett syndrome [RCV003380426] |
ChrX:154027811 [GRCh38] ChrX:153293262 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*2657G>A |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000132781]|Rett syndrome [RCV003380427] |
ChrX:154027710 [GRCh38] ChrX:153293161 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*2706G>A |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000132782]|Rett syndrome [RCV003380428]|not provided [RCV003436950] |
ChrX:154027661 [GRCh38] ChrX:153293112 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*2956G>A |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000132783]|Rett syndrome [RCV003380429] |
ChrX:154027411 [GRCh38] ChrX:153292862 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*328G>A |
single nucleotide variant |
Rett syndrome [RCV003380430]|not specified [RCV000132784] |
ChrX:154030039 [GRCh38] ChrX:153295490 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*3477G>A |
single nucleotide variant |
Rett syndrome [RCV003380431]|not specified [RCV000132785] |
ChrX:154026890 [GRCh38] ChrX:153292341 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*359G>C |
single nucleotide variant |
Rett syndrome [RCV003380432]|not specified [RCV000132786] |
ChrX:154030008 [GRCh38] ChrX:153295459 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*363G>C |
single nucleotide variant |
Rett syndrome [RCV003380433]|not specified [RCV000132787] |
ChrX:154030004 [GRCh38] ChrX:153295455 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*3658C>T |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000132788]|Rett syndrome [RCV003389396] |
ChrX:154026709 [GRCh38] ChrX:153292160 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*3662A>G |
single nucleotide variant |
Rett syndrome [RCV003380434]|not specified [RCV000132789] |
ChrX:154026705 [GRCh38] ChrX:153292156 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*36G>C |
single nucleotide variant |
Rett syndrome [RCV003380435]|not specified [RCV000132790] |
ChrX:154030331 [GRCh38] ChrX:153295782 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.*371G>C |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000132791]|Rett syndrome [RCV003380436]|not provided [RCV003436951] |
ChrX:154029996 [GRCh38] ChrX:153295447 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*3878G>C |
single nucleotide variant |
Rett syndrome [RCV003380437]|not specified [RCV000132792] |
ChrX:154026489 [GRCh38] ChrX:153291940 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*393G>A |
single nucleotide variant |
Rett syndrome [RCV003389397]|not specified [RCV000132793] |
ChrX:154029974 [GRCh38] ChrX:153295425 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*4084GT[1] |
microsatellite |
Rett syndrome [RCV003380438]|not specified [RCV000132794] |
ChrX:154026280..154026281 [GRCh38] ChrX:153291731..153291732 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*4576A>C |
single nucleotide variant |
Rett syndrome [RCV003380439]|not specified [RCV000132795] |
ChrX:154025791 [GRCh38] ChrX:153291242 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*487G>C |
single nucleotide variant |
Rett syndrome [RCV003380440]|not specified [RCV000132796] |
ChrX:154029880 [GRCh38] ChrX:153295331 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*489G>C |
single nucleotide variant |
Rett syndrome [RCV003380441]|not specified [RCV000132797] |
ChrX:154029878 [GRCh38] ChrX:153295329 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*529G>T |
single nucleotide variant |
Rett syndrome [RCV003380442]|not specified [RCV000132798] |
ChrX:154029838 [GRCh38] ChrX:153295289 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*5348T>C |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000132799]|not provided [RCV003436952] |
ChrX:154025019 [GRCh38] ChrX:153290470 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*544G>A |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000132800]|Rett syndrome [RCV003389240] |
ChrX:154029823 [GRCh38] ChrX:153295274 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*5478AT[6] |
microsatellite |
Rett syndrome [RCV003389398]|not specified [RCV000132801] |
ChrX:154024879..154024880 [GRCh38] ChrX:153290330..153290331 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*554G>A |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000132802]|Rett syndrome [RCV003380444] |
ChrX:154029813 [GRCh38] ChrX:153295264 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*55C>G |
single nucleotide variant |
Rett syndrome [RCV003389399]|not specified [RCV000132803] |
ChrX:154030312 [GRCh38] ChrX:153295763 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*5839C>T |
single nucleotide variant |
Rett syndrome [RCV003380445]|not specified [RCV000132804] |
ChrX:154024528 [GRCh38] ChrX:153289979 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.*767G>T |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000132805]|Rett syndrome [RCV003380446] |
ChrX:154029600 [GRCh38] ChrX:153295051 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.*7748C>T |
single nucleotide variant |
Rett syndrome [RCV003380447]|not specified [RCV000132806] |
ChrX:154022619 [GRCh38] ChrX:153288070 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*7856A>C |
single nucleotide variant |
Rett syndrome [RCV003389400]|not specified [RCV000132807] |
ChrX:154022511 [GRCh38] ChrX:153287962 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*796_*822del |
deletion |
not provided [RCV000132808] |
ChrX:154029545..154029571 [GRCh38] ChrX:153294996..153295022 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.*806G>A |
single nucleotide variant |
Rett syndrome [RCV003389401]|not provided [RCV003436953]|not specified [RCV000132809] |
ChrX:154029561 [GRCh38] ChrX:153295012 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.*831G>C |
single nucleotide variant |
Rett syndrome [RCV003380448]|not specified [RCV000132810] |
ChrX:154029536 [GRCh38] ChrX:153294987 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.*8500C>G |
single nucleotide variant |
Rett syndrome [RCV003380449]|not specified [RCV000132811] |
ChrX:154021867 [GRCh38] ChrX:153287318 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*8503del |
deletion |
Rett syndrome [RCV003380450]|not specified [RCV000132812] |
ChrX:154021864 [GRCh38] ChrX:153287315 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.1097G>A (p.Arg366His) |
single nucleotide variant |
Rett syndrome [RCV003380456]|not specified [RCV000132840] |
ChrX:154030767 [GRCh38] ChrX:153296218 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1097G>T (p.Arg366Leu) |
single nucleotide variant |
Rett syndrome [RCV003380457]|Severe neonatal-onset encephalopathy with microcephaly [RCV001465694]|not specified [RCV000132841] |
ChrX:154030767 [GRCh38] ChrX:153296218 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1097_1110del (p.Arg366fs) |
deletion |
not provided [RCV000132842] |
ChrX:154030754..154030767 [GRCh38] ChrX:153296205..153296218 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1101C>T (p.Ser367=) |
single nucleotide variant |
not specified [RCV000132843] |
ChrX:154030763 [GRCh38] ChrX:153296214 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.1099AGC[2] (p.Ser369del) |
microsatellite |
Rett syndrome [RCV000132844]|Severe neonatal-onset encephalopathy with microcephaly [RCV002515924] |
ChrX:154030757..154030759 [GRCh38] ChrX:153296208..153296210 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002415625]|Severe neonatal-onset encephalopathy with microcephaly [RCV000470986]|not specified [RCV000132846] |
ChrX:154030753 [GRCh38] ChrX:153296204 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter) |
single nucleotide variant |
Rett syndrome [RCV000132847] |
ChrX:154030749 [GRCh38] ChrX:153296200 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.143_144del (p.Lys48fs) |
deletion |
Rett syndrome [RCV000132848] |
ChrX:154032476..154032477 [GRCh38] ChrX:153297927..153297928 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) |
deletion |
Rett syndrome [RCV000132849]|Severe neonatal-onset encephalopathy with microcephaly [RCV002515925] |
ChrX:154032471..154032477 [GRCh38] ChrX:153297922..153297928 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala) |
single nucleotide variant |
Rett syndrome [RCV002260615]|Severe neonatal-onset encephalopathy with microcephaly [RCV000867100]|not specified [RCV000132850] |
ChrX:154030747 [GRCh38] ChrX:153296198 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1123A>T (p.Lys375Ter) |
single nucleotide variant |
Rett syndrome [RCV000132851] |
ChrX:154030741 [GRCh38] ChrX:153296192 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1124_1151del (p.Lys375fs) |
deletion |
not provided [RCV000132852] |
ChrX:154030713..154030740 [GRCh38] ChrX:153296164..153296191 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs) |
microsatellite |
Angelman syndrome [RCV000473677]|Rett syndrome [RCV000132853]|Severe neonatal-onset encephalopathy with microcephaly [RCV001386106]|not provided [RCV001781481] |
ChrX:154032473..154032476 [GRCh38] ChrX:153297924..153297927 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1135_1154del (p.His379fs) |
deletion |
Rett syndrome [RCV000132854] |
ChrX:154030710..154030729 [GRCh38] ChrX:153296161..153296180 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1140C>T (p.His380=) |
single nucleotide variant |
not provided [RCV000132855] |
ChrX:154030724 [GRCh38] ChrX:153296175 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del) |
microsatellite |
Rett syndrome [RCV000132856]|Severe neonatal-onset encephalopathy with microcephaly [RCV002515926]|not provided [RCV000522093] |
ChrX:154030722..154030724 [GRCh38] ChrX:153296173..153296175 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1141_1152del (p.His381_His384del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001342919]|not provided [RCV000132857] |
ChrX:154030712..154030723 [GRCh38] ChrX:153296163..153296174 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1141del (p.His381fs) |
deletion |
not provided [RCV000132858] |
ChrX:154030723 [GRCh38] ChrX:153296174 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1154C>G (p.Ser385Ter) |
single nucleotide variant |
Rett syndrome [RCV000193072]|not provided [RCV000132859] |
ChrX:154030710 [GRCh38] ChrX:153296161 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1161_1173del (p.Pro388fs) |
deletion |
not provided [RCV000132860] |
ChrX:154030691..154030703 [GRCh38] ChrX:153296142..153296154 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg) |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000132861]|Rett syndrome [RCV003389403]|Severe neonatal-onset encephalopathy with microcephaly [RCV001857480] |
ChrX:154030701 [GRCh38] ChrX:153296152 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1163_1173del (p.Pro388fs) |
deletion |
Rett syndrome [RCV000132862] |
ChrX:154030691..154030701 [GRCh38] ChrX:153296142..153296152 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1165_1169delinsGAGT (p.Lys389fs) |
indel |
not provided [RCV000132863] |
ChrX:154030695..154030699 [GRCh38] ChrX:153296146..153296150 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1168_1195del (p.Ala390fs) |
deletion |
not provided [RCV000132864] |
ChrX:154030669..154030696 [GRCh38] ChrX:153296120..153296147 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002515927]|MECP2-related condition [RCV003398777]|Rett syndrome [RCV000132865]|Severe neonatal-onset encephalopathy with microcephaly [RCV001245011]|not provided [RCV001546726] |
ChrX:154030695 [GRCh38] ChrX:153296146 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) |
single nucleotide variant |
Rett syndrome [RCV002260616]|Severe neonatal-onset encephalopathy with microcephaly [RCV000694069]|not provided [RCV001090499]|not specified [RCV000132866] |
ChrX:154030695 [GRCh38] ChrX:153296146 [GRCh37] ChrX:Xq28 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) |
deletion |
Intellectual disability [RCV000851500]|Rett syndrome [RCV003388830]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000132867]|not provided [RCV000494344] |
ChrX:154030686..154030693 [GRCh38] ChrX:153296137..153296144 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1172_1178del (p.Pro391fs) |
deletion |
not provided [RCV000132868] |
ChrX:154030686..154030692 [GRCh38] ChrX:153296137..153296143 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002321616]|Rett syndrome [RCV000225614]|Severe neonatal-onset encephalopathy with microcephaly [RCV001087462]|Severe neonatal-onset encephalopathy with microcephaly [RCV002505117]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000169942]|not provided [RCV000724404] |
ChrX:154030690 [GRCh38] ChrX:153296141 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) |
deletion |
Intellectual disability [RCV001261387]|Rett syndrome [RCV001262717]|Severe neonatal-onset encephalopathy with microcephaly [RCV001386238]|not provided [RCV000132871] |
ChrX:154030665..154030690 [GRCh38] ChrX:153296116..153296141 [GRCh37] ChrX:Xq28 |
pathogenic|likely benign|not provided |
NM_001110792.2(MECP2):c.1177C>G (p.Pro393Ala) |
single nucleotide variant |
not specified [RCV000132872] |
ChrX:154030687 [GRCh38] ChrX:153296138 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.1181_1230del (p.Leu394fs) |
deletion |
Rett syndrome [RCV000132873] |
ChrX:154030634..154030683 [GRCh38] ChrX:153296085..153296134 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1184_1213del (p.Leu395_Glu404del) |
deletion |
not provided [RCV000132874] |
ChrX:154030651..154030680 [GRCh38] ChrX:153296102..153296131 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1186_1228del (p.Pro396fs) |
deletion |
Rett syndrome [RCV000132875] |
ChrX:154030636..154030678 [GRCh38] ChrX:153296087..153296129 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1187_1219del (p.Pro396_Ser407delinsArg) |
deletion |
Rett syndrome [RCV000132876] |
ChrX:154030645..154030677 [GRCh38] ChrX:153296096..153296128 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1187_1224del (p.Pro396fs) |
deletion |
Rett syndrome [RCV000132877]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514761] |
ChrX:154030640..154030677 [GRCh38] ChrX:153296091..153296128 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1187_1227del (p.Pro396fs) |
deletion |
Rett syndrome [RCV000132878] |
ChrX:154030637..154030677 [GRCh38] ChrX:153296088..153296128 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1188_1191del (p.Pro397fs) |
deletion |
Inborn genetic diseases [RCV002345447]|Rett syndrome [RCV000132879] |
ChrX:154030673..154030676 [GRCh38] ChrX:153296124..153296127 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs) |
deletion |
Rett syndrome [RCV000132880] |
ChrX:154030633..154030676 [GRCh38] ChrX:153296084..153296127 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs) |
duplication |
Inborn genetic diseases [RCV000622820]|Rett syndrome [RCV002468587]|not provided [RCV000522145] |
ChrX:154030664..154030665 [GRCh38] ChrX:153296115..153296116 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.*8503dup |
duplication |
Rett syndrome [RCV003389402]|not specified [RCV000132813] |
ChrX:154021863..154021864 [GRCh38] ChrX:153287314..153287315 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*861T>G |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000132814]|Rett syndrome [RCV003380451] |
ChrX:154029506 [GRCh38] ChrX:153294957 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*875dup |
duplication |
Rett syndrome [RCV003380452]|not specified [RCV000132815] |
ChrX:154029491..154029492 [GRCh38] ChrX:153294942..153294943 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*878C>G |
single nucleotide variant |
Rett syndrome [RCV003380453]|not specified [RCV000132816] |
ChrX:154029489 [GRCh38] ChrX:153294940 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*8C>T |
single nucleotide variant |
not specified [RCV000132817] |
ChrX:154030359 [GRCh38] ChrX:153295810 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*92C>G |
single nucleotide variant |
Rett syndrome [RCV000132818] |
ChrX:154030275 [GRCh38] ChrX:153295726 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.*92C>T |
single nucleotide variant |
Rett syndrome [RCV003380454]|not specified [RCV000132819] |
ChrX:154030275 [GRCh38] ChrX:153295726 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.*93G>A |
single nucleotide variant |
not specified [RCV000132820] |
ChrX:154030274 [GRCh38] ChrX:153295725 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.*98dup |
duplication |
Rett syndrome [RCV000990996]|not specified [RCV000168710] |
ChrX:154030268..154030269 [GRCh38] ChrX:153295719..153295720 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.*9G>A |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000719347]|Rett syndrome [RCV003380455]|not provided [RCV001705936]|not specified [RCV000153483] |
ChrX:154030358 [GRCh38] ChrX:153295809 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.1040_1073del (p.Gly347fs) |
deletion |
not provided [RCV000132826] |
ChrX:154030791..154030824 [GRCh38] ChrX:153296242..153296275 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1045_1063del (p.Lys349fs) |
deletion |
Rett syndrome [RCV000132827] |
ChrX:154030801..154030819 [GRCh38] ChrX:153296252..153296270 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.136_139del (p.Asp46fs) |
deletion |
Rett syndrome [RCV000132828]|Severe neonatal-onset encephalopathy with microcephaly [RCV001219819] |
ChrX:154032481..154032484 [GRCh38] ChrX:153297932..153297935 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1050C>T (p.Thr350=) |
single nucleotide variant |
not provided [RCV000132829] |
ChrX:154030814 [GRCh38] ChrX:153296265 [GRCh37] ChrX:Xq28 |
likely benign|not provided |
NM_001110792.2(MECP2):c.1051T>C (p.Cys351Arg) |
single nucleotide variant |
Rett syndrome [RCV000132830] |
ChrX:154030813 [GRCh38] ChrX:153296264 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1065del (p.Arg356fs) |
deletion |
Rett syndrome [RCV000445573]|not provided [RCV000132831] |
ChrX:154030799 [GRCh38] ChrX:153296250 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1065dup (p.Arg356fs) |
duplication |
not provided [RCV000132832] |
ChrX:154030798..154030799 [GRCh38] ChrX:153296249..153296250 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp) |
single nucleotide variant |
Rett syndrome [RCV000132833]|Severe neonatal-onset encephalopathy with microcephaly [RCV000863677]|not provided [RCV001571972] |
ChrX:154030798 [GRCh38] ChrX:153296249 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1074C>G (p.Ser358Arg) |
single nucleotide variant |
Rett syndrome [RCV000132834] |
ChrX:154030790 [GRCh38] ChrX:153296241 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1079_1092del (p.Glu360fs) |
deletion |
not provided [RCV000132835] |
ChrX:154030772..154030785 [GRCh38] ChrX:153296223..153296236 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1084_1131del (p.Ser362_Glu377del) |
deletion |
Rett syndrome [RCV000132836] |
ChrX:154030733..154030780 [GRCh38] ChrX:153296184..153296231 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1087_1090del (p.Pro363fs) |
deletion |
not provided [RCV000132837] |
ChrX:154030774..154030777 [GRCh38] ChrX:153296225..153296228 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1087_1101del (p.Pro363_Ser367del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000820888]|not provided [RCV000132838] |
ChrX:154030763..154030777 [GRCh38] ChrX:153296214..153296228 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1095_1108del (p.Arg366fs) |
deletion |
not provided [RCV000132839] |
ChrX:154030756..154030769 [GRCh38] ChrX:153296207..153296220 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) |
single nucleotide variant |
Angelman syndrome [RCV000169934]|Inborn genetic diseases [RCV000624907]|Intellectual disability [RCV001257757]|Neurodevelopmental delay [RCV002273925]|Rett syndrome [RCV000030666]|Rett syndrome, zappella variant [RCV000012578]|Severe neonatal-onset encephalopathy with microcephaly [RCV000460141]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170107]|not provided [RCV000081202]|not specified [RCV000445570] |
ChrX:154031431 [GRCh38] ChrX:153296882 [GRCh37] ChrX:Xq28 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser) |
single nucleotide variant |
Rett syndrome [RCV000012579] |
ChrX:154031364 [GRCh38] ChrX:153296815 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) |
single nucleotide variant |
Abnormality of the nervous system [RCV001813975]|Angelman syndrome [RCV000170109]|Autism, susceptibility to, X-linked 3 [RCV000169935]|Inborn genetic diseases [RCV000623451]|Neurodevelopmental delay [RCV002273926]|Rett syndrome [RCV000012580]|Severe neonatal-onset encephalopathy with microcephaly [RCV000170110]|Severe neonatal-onset encephalopathy with microcephaly [RCV000763199]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002247328]|not provided [RCV000133129]|not specified [RCV000507589] |
ChrX:154031355 [GRCh38] ChrX:153296806 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
NM_004992.4:c.806del |
deletion |
Rett syndrome [RCV000012582]|Severe neonatal-onset encephalopathy with microcephaly [RCV000012583] |
ChrX:Xq28 |
pathogenic |
NM_004992.4:c.1152_1195del |
deletion |
Rett syndrome [RCV000012584] |
ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV001195924]|Inborn genetic diseases [RCV002311513]|Rett syndrome [RCV000012585]|Severe neonatal-onset encephalopathy with microcephaly [RCV000552837]|Severe neonatal-onset encephalopathy with microcephaly [RCV003224092]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002247329]|not provided [RCV000255874]|not specified [RCV001000318] |
ChrX:154032268 [GRCh38] ChrX:153297719 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV001196907]|Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome [RCV000146359]|Inborn genetic diseases [RCV000624100]|Rett syndrome [RCV000012586]|Severe neonatal-onset encephalopathy with microcephaly [RCV000169940]|Severe neonatal-onset encephalopathy with microcephaly [RCV000515283]|Syndromic X-linked intellectual disability Lubs type [RCV001705588]|not provided [RCV000081212] |
ChrX:154031020 [GRCh38] ChrX:153296471 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_004992.4:c.378-2A>G |
single nucleotide variant |
Rett syndrome [RCV000012587] |
ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter) |
single nucleotide variant |
Rett syndrome [RCV000146349]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000012588] |
ChrX:154030648 [GRCh38] ChrX:153296099 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.203_204del (p.Pro68fs) |
deletion |
Angelman syndrome [RCV000133026]|Rett syndrome [RCV000012589] |
ChrX:154032416..154032417 [GRCh38] ChrX:153297867..153297868 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000012591]|Inborn genetic diseases [RCV000624805]|MECP2-Related Disorders [RCV003335027]|Rett syndrome [RCV000012590]|See cases [RCV001420261]|Severe neonatal-onset encephalopathy with microcephaly [RCV000474366]|Severe neonatal-onset encephalopathy with microcephaly [RCV000515413]|not provided [RCV000081215] |
ChrX:154030948 [GRCh38] ChrX:153296399 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_004992.4:c.1157_1197del |
deletion |
Autism, susceptibility to, X-linked 3 [RCV000012593]|Rett syndrome, zappella variant [RCV000012592] |
ChrX:Xq28 |
pathogenic|risk factor |
NM_004992.4:c.1160_1200del |
deletion |
Rett syndrome [RCV000012594] |
ChrX:Xq28 |
pathogenic |
MECP2, 44-BP DEL, NT1159 |
deletion |
Rett syndrome, zappella variant [RCV000012595] |
ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) |
single nucleotide variant |
Atypical behavior [RCV001004016]|Autism, susceptibility to, X-linked 3 [RCV001197458]|Inborn genetic diseases [RCV002326676]|Intellectual disability [RCV001257756]|Motor delay [RCV000414791]|Neurodevelopmental disorder [RCV001374894]|Rett syndrome [RCV000020628]|Severe neonatal-onset encephalopathy with microcephaly [RCV000544176]|Severe neonatal-onset encephalopathy with microcephaly [RCV001249626]|Syndromic X-linked intellectual disability Lubs type [RCV002466399]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000012596]|not provided [RCV000224266] |
ChrX:154031409 [GRCh38] ChrX:153296860 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) |
single nucleotide variant |
Angelman syndrome [RCV000202468]|Autism, susceptibility to, X-linked 3 [RCV001841244]|Inborn genetic diseases [RCV002444428]|Intellectual disability [RCV000224156]|Neurodevelopmental delay [RCV002273927]|Rett syndrome [RCV000012597]|See cases [RCV002287332]|Severe neonatal-onset encephalopathy with microcephaly [RCV000466020]|Severe neonatal-onset encephalopathy with microcephaly [RCV003224093]|not provided [RCV000081218] |
ChrX:154030912 [GRCh38] ChrX:153296363 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001230698]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000012598]|not provided [RCV001566839] |
ChrX:154031418 [GRCh38] ChrX:153296869 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_004992.4:c.76del |
deletion |
Rett syndrome [RCV000012599] |
ChrX:Xq28 |
pathogenic |
MECP2, 14-BP DUP, NT766 |
duplication |
Rett syndrome [RCV000012600]|Rett's disorder [RCV000012600] |
ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) |
single nucleotide variant |
Global developmental delay [RCV000626872]|Inborn genetic diseases [RCV002311514]|Intellectual disability [RCV000224869]|MECP2-related condition [RCV003390670]|Rett syndrome [RCV000012601]|Severe neonatal-onset encephalopathy with microcephaly [RCV000545521]|not provided [RCV000133143] |
ChrX:154031326 [GRCh38] ChrX:153296777 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) |
single nucleotide variant |
Abnormality of the nervous system [RCV001813976]|Inborn genetic diseases [RCV002313706]|MECP2-Related Disorders [RCV003335028]|Neurodevelopmental delay [RCV002273928]|Rett syndrome [RCV000012602]|Severe neonatal-onset encephalopathy with microcephaly [RCV000515183]|Severe neonatal-onset encephalopathy with microcephaly [RCV000553858]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000169938]|not provided [RCV000081209] |
ChrX:154031065 [GRCh38] ChrX:153296516 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_004992.4:c.1161_1400del |
deletion |
Mental retardation, X-linked, syndromic 13 [RCV000012603] |
ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002371770]|Rett syndrome [RCV002260597]|Severe neonatal-onset encephalopathy with microcephaly [RCV000012604]|not provided [RCV001719695]|not specified [RCV000132982] |
ChrX:154030546 [GRCh38] ChrX:153295997 [GRCh37] ChrX:Xq28 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_004992.4:c.1159_1210del |
deletion |
Atypical Rett syndrome [RCV000012605] |
ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) |
single nucleotide variant |
Angelman syndrome [RCV000133106]|Atypical Rett syndrome [RCV000012606]|Inborn genetic diseases [RCV000623504]|Rett syndrome [RCV000170108]|Severe neonatal-onset encephalopathy with microcephaly [RCV001049210]|not provided [RCV000729616] |
ChrX:154031405 [GRCh38] ChrX:153296856 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter) |
single nucleotide variant |
Rett syndrome [RCV000012607]|not provided [RCV000132997] |
ChrX:154030465 [GRCh38] ChrX:153295916 [GRCh37] ChrX:Xq28 |
pathogenic|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) |
single nucleotide variant |
Rett syndrome [RCV000012608]|not provided [RCV000498874] |
ChrX:154032286 [GRCh38] ChrX:153297737 [GRCh37] ChrX:Xq28 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
NG_007107.3:g.44485_44495del |
deletion |
Rett syndrome [RCV000012609] |
ChrX:Xq28 |
pathogenic |
MECP2, 5-BP DUP, EX1 |
duplication |
Rett syndrome [RCV000012610]|Rett's disorder [RCV000012610] |
ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153905292-154361918) |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV000012611] |
ChrX:153905292..154361918 [GRCh38] ChrX:Xq28 |
pathogenic |
MECP2, 1-BP DEL AND 2-BP INS |
indel |
Rett syndrome [RCV000012612]|Rett's disorder [RCV000012612] |
ChrX:Xq28 |
pathogenic |
MECP2, 2-BP DEL, 488GG |
deletion |
Encephalopathy, neonatal severe, due to mecp2 mutation [RCV000012614]|Rett syndrome [RCV000012613]|Rett's disorder [RCV000012613]|Severe neonatal-onset encephalopathy with microcephaly [RCV000012614] |
ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1472C>T (p.Thr491Met) |
single nucleotide variant |
Rett syndrome [RCV003380470]|not specified [RCV000133006] |
ChrX:154030392 [GRCh38] ChrX:153295843 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.1474C>T (p.Pro492Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002055851]|not specified [RCV000133007] |
ChrX:154030390 [GRCh38] ChrX:153295841 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.1482C>T (p.Thr494=) |
single nucleotide variant |
Rett syndrome [RCV003380471]|Severe neonatal-onset encephalopathy with microcephaly [RCV001447815]|not provided [RCV003436954]|not specified [RCV000133009] |
ChrX:154030382 [GRCh38] ChrX:153295833 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.1484_*29del (p.Glu495fs) |
deletion |
not provided [RCV000133010] |
ChrX:154030338..154030380 [GRCh38] ChrX:153295789..153295831 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1485G>C (p.Glu495Asp) |
single nucleotide variant |
not provided [RCV000133011] |
ChrX:154030379 [GRCh38] ChrX:153295830 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del) |
deletion |
Rett syndrome [RCV000133012] |
ChrX:154030355..154030378 [GRCh38] ChrX:153295806..153295829 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1486_1489del (p.Arg496fs) |
microsatellite |
Rett syndrome [RCV000133013] |
ChrX:154030375..154030378 [GRCh38] ChrX:153295826..153295829 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr) |
single nucleotide variant |
Rett syndrome [RCV003380472]|Severe neonatal-onset encephalopathy with microcephaly [RCV000863049]|not provided [RCV002055852]|not specified [RCV000146354] |
ChrX:154030377 [GRCh38] ChrX:153295828 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.1488_1489dup (p.Val497fs) |
microsatellite |
Rett syndrome [RCV000133015] |
ChrX:154030374..154030375 [GRCh38] ChrX:153295825..153295826 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs) |
deletion |
Rett syndrome [RCV000168709]|Severe neonatal-onset encephalopathy with microcephaly [RCV001042819] |
ChrX:154030371..154030374 [GRCh38] ChrX:153295822..153295825 [GRCh37] ChrX:Xq28 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
NM_001110792.2(MECP2):c.1491_1492dup (p.Ser498fs) |
duplication |
Rett syndrome [RCV000133017] |
ChrX:154030371..154030372 [GRCh38] ChrX:153295822..153295823 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1495T>C (p.Ter499Arg) |
single nucleotide variant |
Rett syndrome [RCV003314564]|not provided [RCV000133018] |
ChrX:154030369 [GRCh38] ChrX:153295820 [GRCh37] ChrX:Xq28 |
likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1496G>T (p.Ter499Leu) |
single nucleotide variant |
not provided [RCV000133019] |
ChrX:154030368 [GRCh38] ChrX:153295819 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys) |
single nucleotide variant |
Rett syndrome [RCV000133020] |
ChrX:154030367 [GRCh38] ChrX:153295818 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp) |
single nucleotide variant |
Rett syndrome [RCV002472325]|Severe neonatal-onset encephalopathy with microcephaly [RCV001379701]|not specified [RCV000133021] |
ChrX:154030367 [GRCh38] ChrX:153295818 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.182C>A (p.Ser61Ter) |
single nucleotide variant |
Rett syndrome [RCV000133022] |
ChrX:154032438 [GRCh38] ChrX:153297889 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter) |
single nucleotide variant |
Rett syndrome [RCV000192902]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002243797]|not provided [RCV000133023] |
ChrX:154032438 [GRCh38] ChrX:153297889 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.189C>G (p.His63Gln) |
single nucleotide variant |
Rett syndrome [RCV003483516]|Severe neonatal-onset encephalopathy with microcephaly [RCV001857482]|not specified [RCV000133024] |
ChrX:154032431 [GRCh38] ChrX:153297882 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.191A>G (p.His64Arg) |
single nucleotide variant |
Rett syndrome [RCV002472326]|Severe neonatal-onset encephalopathy with microcephaly [RCV001520931]|not provided [RCV001689675]|not specified [RCV000133025] |
ChrX:154032429 [GRCh38] ChrX:153297880 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) |
single nucleotide variant |
Inborn genetic diseases [RCV002399509]|Rett syndrome [RCV001800449]|Severe neonatal-onset encephalopathy with microcephaly [RCV001088114]|not provided [RCV000544803]|not specified [RCV000133027] |
ChrX:154032416 [GRCh38] ChrX:153297867 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.225_226del (p.Glu75fs) |
microsatellite |
Rett syndrome [RCV000133028] |
ChrX:154032394..154032395 [GRCh38] ChrX:153297845..153297846 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter) |
single nucleotide variant |
Rett syndrome [RCV000193745]|not provided [RCV000133029] |
ChrX:154032390 [GRCh38] ChrX:153297841 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.237del (p.Ser80fs) |
deletion |
Rett syndrome [RCV000133030] |
ChrX:154032383 [GRCh38] ChrX:153297834 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) |
single nucleotide variant |
Abnormality of the nervous system [RCV001814066]|Rett syndrome [RCV000133031] |
ChrX:154032381 [GRCh38] ChrX:153297832 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.417C>G (p.Pro139=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001404570]|not specified [RCV000594054] |
ChrX:154031447 [GRCh38] ChrX:153296898 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.251C>T (p.Pro84Leu) |
single nucleotide variant |
Rett syndrome [RCV001800450]|Severe neonatal-onset encephalopathy with microcephaly [RCV001034292]|not specified [RCV000133032] |
ChrX:154032369 [GRCh38] ChrX:153297820 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.251_252insT (p.Ala85fs) |
insertion |
Rett syndrome [RCV000133033] |
ChrX:154032368..154032369 [GRCh38] ChrX:153297819..153297820 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.251dup (p.Ala85fs) |
duplication |
Rett syndrome [RCV000133034] |
ChrX:154032368..154032369 [GRCh38] ChrX:153297819..153297820 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002515929]|Rett syndrome [RCV000195208]|Severe neonatal-onset encephalopathy with microcephaly [RCV001414793]|not specified [RCV000133035] |
ChrX:154032360 [GRCh38] ChrX:153297811 [GRCh37] ChrX:Xq28 |
pathogenic|benign|likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.261G>A (p.Pro87=) |
single nucleotide variant |
Rett syndrome [RCV001800451]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645113]|not specified [RCV000133036] |
ChrX:154032359 [GRCh38] ChrX:153297810 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.265_274del (p.Ala89fs) |
deletion |
Rett syndrome [RCV003389404]|not provided [RCV000133037] |
ChrX:154032346..154032355 [GRCh38] ChrX:153297797..153297806 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.269del (p.Ser90fs) |
deletion |
Rett syndrome [RCV000133038] |
ChrX:154032351 [GRCh38] ChrX:153297802 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.279dup (p.Lys94fs) |
duplication |
Rett syndrome [RCV000133039] |
ChrX:154032340..154032341 [GRCh38] ChrX:153297791..153297792 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.281A>G (p.Lys94Arg) |
single nucleotide variant |
Rett syndrome [RCV003380473]|Severe neonatal-onset encephalopathy with microcephaly [RCV000981151]|not provided [RCV001725999]|not specified [RCV000133040] |
ChrX:154032339 [GRCh38] ChrX:153297790 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.293C>G (p.Ser98Cys) |
single nucleotide variant |
Rett syndrome [RCV000133041] |
ChrX:154032327 [GRCh38] ChrX:153297778 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.294_295del (p.Ile99fs) |
deletion |
Rett syndrome [RCV000133042] |
ChrX:154032325..154032326 [GRCh38] ChrX:153297776..153297777 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.310G>T (p.Gly104Ter) |
single nucleotide variant |
Rett syndrome [RCV000133043] |
ChrX:154032310 [GRCh38] ChrX:153297761 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.311dup (p.Pro105fs) |
duplication |
Rett syndrome [RCV000133044] |
ChrX:154032308..154032309 [GRCh38] ChrX:153297759..153297760 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.312_313insG (p.Pro105fs) |
insertion |
not provided [RCV000133045] |
ChrX:154032307..154032308 [GRCh38] ChrX:153297758..153297759 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.313C>T (p.Pro105Ser) |
single nucleotide variant |
Rett syndrome [RCV000133046] |
ChrX:154032307 [GRCh38] ChrX:153297758 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.315C>T (p.Pro105=) |
single nucleotide variant |
not specified [RCV000133047] |
ChrX:154032305 [GRCh38] ChrX:153297756 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr) |
single nucleotide variant |
Rett syndrome [RCV000133048] |
ChrX:154032295 [GRCh38] ChrX:153297746 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.64G>C (p.Glu22Gln) |
single nucleotide variant |
Rett syndrome [RCV000133049] |
ChrX:154032556 [GRCh38] ChrX:153298007 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter) |
single nucleotide variant |
Rett syndrome [RCV000133050] |
ChrX:154032556 [GRCh38] ChrX:153298007 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.327C>A (p.Asp109Glu) |
single nucleotide variant |
Rett syndrome [RCV000133051] |
ChrX:154032293 [GRCh38] ChrX:153297744 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.331_333del (p.Thr111del) |
deletion |
Rett syndrome [RCV000133052] |
ChrX:154032287..154032289 [GRCh38] ChrX:153297738..153297740 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.333C>G (p.Thr111=) |
single nucleotide variant |
Rett syndrome [RCV003380474]|not specified [RCV000133053] |
ChrX:154032287 [GRCh38] ChrX:153297738 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.335T>G (p.Leu112Arg) |
single nucleotide variant |
Rett syndrome [RCV000133055] |
ChrX:154032285 [GRCh38] ChrX:153297736 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) |
single nucleotide variant |
Rett syndrome [RCV000133056] |
ChrX:154032283 [GRCh38] ChrX:153297734 [GRCh37] ChrX:Xq28 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.338C>A (p.Pro113His) |
single nucleotide variant |
Rett syndrome [RCV000133057] |
ChrX:154032282 [GRCh38] ChrX:153297733 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) |
single nucleotide variant |
Angelman syndrome [RCV000133058]|Rett syndrome [RCV000170238]|Severe neonatal-onset encephalopathy with microcephaly [RCV001857483] |
ChrX:154032282 [GRCh38] ChrX:153297733 [GRCh37] ChrX:Xq28 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.338C>T (p.Pro113Leu) |
single nucleotide variant |
Rett syndrome [RCV000133059] |
ChrX:154032282 [GRCh38] ChrX:153297733 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.344G>A (p.Gly115Asp) |
single nucleotide variant |
Rett syndrome [RCV000133060]|not specified [RCV002222406] |
ChrX:154032276 [GRCh38] ChrX:153297727 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.346T>C (p.Trp116Arg) |
single nucleotide variant |
Rett syndrome [RCV000133061] |
ChrX:154032274 [GRCh38] ChrX:153297725 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter) |
single nucleotide variant |
Rett syndrome [RCV000133062]|Severe neonatal-onset encephalopathy with microcephaly [RCV001849958] |
ChrX:154032273 [GRCh38] ChrX:153297724 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.347_359del (p.Trp116fs) |
deletion |
Rett syndrome [RCV000133063] |
ChrX:154032261..154032273 [GRCh38] ChrX:153297712..153297724 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.351dup (p.Arg118fs) |
duplication |
Rett syndrome [RCV000133064] |
ChrX:154032268..154032269 [GRCh38] ChrX:153297719..153297720 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.352C>G (p.Arg118Gly) |
single nucleotide variant |
MECP2-related condition [RCV003407558]|Rett syndrome [RCV000133065] |
ChrX:154032268 [GRCh38] ChrX:153297719 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) |
single nucleotide variant |
Rett syndrome [RCV000133067]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV003333738]|not provided [RCV001542086] |
ChrX:154032267 [GRCh38] ChrX:153297718 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.353G>T (p.Arg118Leu) |
single nucleotide variant |
Rett syndrome [RCV000133068]|not provided [RCV001843481] |
ChrX:154032267 [GRCh38] ChrX:153297718 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.359T>A (p.Leu120His) |
single nucleotide variant |
Rett syndrome [RCV000133069] |
ChrX:154032261 [GRCh38] ChrX:153297712 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.362dup (p.Gln122fs) |
duplication |
Rett syndrome [RCV000133070] |
ChrX:154032257..154032258 [GRCh38] ChrX:153297708..153297709 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.367A>G (p.Arg123Gly) |
single nucleotide variant |
Rett syndrome [RCV000133071] |
ChrX:154032253 [GRCh38] ChrX:153297704 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.370A>T (p.Lys124Ter) |
single nucleotide variant |
not provided [RCV000133072] |
ChrX:154032250 [GRCh38] ChrX:153297701 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.377G>C (p.Gly126Ala) |
single nucleotide variant |
Rett syndrome [RCV000133073] |
ChrX:154032243 [GRCh38] ChrX:153297694 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000715718]|Rett syndrome [RCV001800452]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514765]|not provided [RCV000133074] |
ChrX:154032241 [GRCh38] ChrX:153297692 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.381del (p.Ser128fs) |
deletion |
Rett syndrome [RCV000133075] |
ChrX:154032239 [GRCh38] ChrX:153297690 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.394T>G (p.Tyr132Asp) |
single nucleotide variant |
Rett syndrome [RCV000133076] |
ChrX:154032226 [GRCh38] ChrX:153297677 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.71_78dup (p.Asp27fs) |
duplication |
Rett syndrome [RCV000133077] |
ChrX:154032541..154032542 [GRCh38] ChrX:153297992..153297993 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.398A>G (p.Asp133Gly) |
single nucleotide variant |
not specified [RCV000133078] |
ChrX:154032222 [GRCh38] ChrX:153297673 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.400G>A (p.Val134Met) |
single nucleotide variant |
Rett syndrome [RCV000133079]|not provided [RCV000254852] |
ChrX:154032220 [GRCh38] ChrX:153297671 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.401T>C (p.Val134Ala) |
single nucleotide variant |
Rett syndrome [RCV003483517]|not specified [RCV000133080] |
ChrX:154032219 [GRCh38] ChrX:153297670 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1271_1296del (p.Val424fs) |
deletion |
Rett syndrome [RCV000132974] |
ChrX:154030568..154030593 [GRCh38] ChrX:153296019..153296044 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1274_1302del (p.Cys425fs) |
deletion |
not provided [RCV000132975] |
ChrX:154030562..154030590 [GRCh38] ChrX:153296013..153296041 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1275C>T (p.Cys425=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000980868]|not provided [RCV001675631]|not specified [RCV000132976] |
ChrX:154030589 [GRCh38] ChrX:153296040 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met) |
single nucleotide variant |
Rett syndrome [RCV002472324]|Severe neonatal-onset encephalopathy with microcephaly [RCV000132977]|not provided [RCV001588991] |
ChrX:154030578 [GRCh38] ChrX:153296029 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1301_1325delinsAGCGGCCG (p.Gly434fs) |
indel |
Rett syndrome [RCV000132978] |
ChrX:154030539..154030563 [GRCh38] ChrX:153295990..153296014 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=) |
single nucleotide variant |
Rett syndrome [RCV003380465]|Severe neonatal-onset encephalopathy with microcephaly [RCV001513294]|Severe neonatal-onset encephalopathy with microcephaly [RCV002492517]|not specified [RCV000132979] |
ChrX:154030562 [GRCh38] ChrX:153296013 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.162dup (p.His55fs) |
duplication |
Rett syndrome [RCV000132980] |
ChrX:154032457..154032458 [GRCh38] ChrX:153297908..153297909 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1314C>T (p.Ser438=) |
single nucleotide variant |
Rett syndrome [RCV003380466]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514763]|not specified [RCV000132981] |
ChrX:154030550 [GRCh38] ChrX:153296001 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.1320C>T (p.Gly440=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001514986]|not provided [RCV000866344]|not specified [RCV000132983] |
ChrX:154030544 [GRCh38] ChrX:153295995 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.1324C>T (p.Pro442Ser) |
single nucleotide variant |
not specified [RCV000132984] |
ChrX:154030540 [GRCh38] ChrX:153295991 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs) |
deletion |
Rett syndrome [RCV000132985]|Severe neonatal-onset encephalopathy with microcephaly [RCV000690876] |
ChrX:154030519..154030520 [GRCh38] ChrX:153295970..153295971 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) |
single nucleotide variant |
Attention deficit hyperactivity disorder [RCV000170236]|Autism, susceptibility to, X-linked 3 [RCV000170237]|Inborn genetic diseases [RCV002312624]|Rett syndrome [RCV003380467]|Severe neonatal-onset encephalopathy with microcephaly [RCV001089023]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000132986]|not provided [RCV000471943]|not specified [RCV000146352] |
ChrX:154030513 [GRCh38] ChrX:153295964 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1356dup (p.Ala453fs) |
duplication |
Rett syndrome [RCV000132987] |
ChrX:154030507..154030508 [GRCh38] ChrX:153295958..153295959 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1362_1370del (p.454TAA[1]) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001430809]|not provided [RCV000132988] |
ChrX:154030494..154030502 [GRCh38] ChrX:153295945..153295953 [GRCh37] ChrX:Xq28 |
likely benign|not provided |
NM_001110792.2(MECP2):c.1360A>G (p.Thr454Ala) |
single nucleotide variant |
not specified [RCV000132989] |
ChrX:154030504 [GRCh38] ChrX:153295955 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1360_1400del (p.Thr454fs) |
deletion |
Rett syndrome [RCV003483513]|not provided [RCV000132990] |
ChrX:154030464..154030504 [GRCh38] ChrX:153295915..153295955 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1362C>T (p.Thr454=) |
single nucleotide variant |
Rett syndrome [RCV003380468]|Severe neonatal-onset encephalopathy with microcephaly [RCV001078556]|not provided [RCV000757449]|not specified [RCV000146353] |
ChrX:154030502 [GRCh38] ChrX:153295953 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.1366_1378del (p.Ala456fs) |
deletion |
Rett syndrome [RCV003483514]|not provided [RCV000132992] |
ChrX:154030486..154030498 [GRCh38] ChrX:153295937..153295949 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002381448]|Rett syndrome [RCV001800447]|Severe neonatal-onset encephalopathy with microcephaly [RCV001088957]|not provided [RCV000678237]|not specified [RCV000132993] |
ChrX:154030489 [GRCh38] ChrX:153295940 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val) |
single nucleotide variant |
Rett syndrome [RCV000132994]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514764] |
ChrX:154030488 [GRCh38] ChrX:153295939 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter) |
single nucleotide variant |
Intellectual disability [RCV001255377]|Rett syndrome [RCV000132995]|not provided [RCV000599411] |
ChrX:154030471 [GRCh38] ChrX:153295922 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1394G>A (p.Arg465Gln) |
single nucleotide variant |
X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000132996] |
ChrX:154030470 [GRCh38] ChrX:153295921 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1400_1401insC (p.Glu467fs) |
insertion |
Rett syndrome [RCV000132998] |
ChrX:154030463..154030464 [GRCh38] ChrX:153295914..153295915 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1408C>T (p.Arg470Cys) |
single nucleotide variant |
Rett syndrome [RCV003380469]|not specified [RCV000132999] |
ChrX:154030456 [GRCh38] ChrX:153295907 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.1439_1444del (p.Arg480_Pro481del) |
deletion |
Rett syndrome [RCV000133002] |
ChrX:154030420..154030425 [GRCh38] ChrX:153295871..153295876 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.176dup (p.Pro60fs) |
duplication |
Rett syndrome [RCV000133003] |
ChrX:154032443..154032444 [GRCh38] ChrX:153297894..153297895 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs) |
microsatellite |
Rett syndrome [RCV003483515]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133004]|not provided [RCV001818335] |
ChrX:154030412..154030413 [GRCh38] ChrX:153295863..153295864 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1466G>C (p.Ser489Thr) |
single nucleotide variant |
Rett syndrome [RCV001800448]|Severe neonatal-onset encephalopathy with microcephaly [RCV001206116]|not specified [RCV000133005] |
ChrX:154030398 [GRCh38] ChrX:153295849 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 |
copy number gain |
See cases [RCV000050889] |
ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 |
copy number gain |
See cases [RCV000050946] |
ChrX:150036146..156022206 [GRCh38] ChrX:149298619..155251871 [GRCh37] ChrX:148955035..154905065 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153929344-154367160)x3 |
copy number gain |
See cases [RCV000050852] |
ChrX:153929344..154367160 [GRCh38] ChrX:153333946..153595528 [GRCh37] ChrX:152847991..153248722 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 |
copy number gain |
See cases [RCV000050810] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 |
copy number loss |
See cases [RCV000050811] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000050699] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 |
copy number gain |
See cases [RCV000050657] |
ChrX:149989929..156022206 [GRCh38] ChrX:149158160..155251871 [GRCh37] ChrX:148908818..154905065 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
Global developmental delay [RCV000050386]|See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000050697] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 |
copy number loss |
See cases [RCV000051160] |
ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] |
ChrX:145879711..156022206 [GRCh38] ChrX:146715565..155251871 [GRCh37] ChrX:144768921..154905065 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 |
copy number loss |
See cases [RCV000051750] |
ChrX:153296806..155699618 [GRCh38] ChrX:152568327..154929279 [GRCh37] ChrX:152215458..154582473 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 |
copy number loss |
See cases [RCV000051665] |
ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 |
copy number loss |
See cases [RCV000051666] |
ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 |
copy number loss |
See cases [RCV000051728] |
ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 |
copy number loss |
See cases [RCV000051729] |
ChrX:126537861..155996431 [GRCh38] ChrX:125671844..155226096 [GRCh37] ChrX:125499525..154879290 [NCBI36] ChrX:Xq25-28 |
pathogenic |
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 |
copy number loss |
See cases [RCV000051713] |
ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 |
copy number loss |
See cases [RCV000051732] |
ChrX:136956500..156020993 [GRCh38] ChrX:136038659..155250658 [GRCh37] ChrX:135866325..154903852 [NCBI36] ChrX:Xq26.3-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] |
ChrX:140445228..155998166 [GRCh38] ChrX:139527393..155227831 [GRCh37] ChrX:139355059..154881025 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 |
copy number gain |
See cases [RCV000052322] |
ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 |
copy number gain |
See cases [RCV000052359] |
ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] |
ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 |
copy number gain |
See cases [RCV000052324] |
ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 |
copy number gain |
See cases [RCV000052325] |
ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153722500-154367160)x2 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] |
ChrX:153722500..154367160 [GRCh38] ChrX:152641149..153248722 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 |
copy number gain |
See cases [RCV000052525] |
ChrX:153769547..154394658 [GRCh38] ChrX:152688196..153276194 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 |
copy number gain |
See cases [RCV000052527] |
ChrX:153777340..154397779 [GRCh38] ChrX:153333946..153626120 [GRCh37] ChrX:152695989..153279314 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 |
copy number gain |
See cases [RCV000052528] |
ChrX:153787044..154397779 [GRCh38] ChrX:153333946..153626120 [GRCh37] ChrX:152705693..153279314 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 |
copy number gain |
See cases [RCV000052529] |
ChrX:153932045..155611794 [GRCh38] ChrX:152850692..154494649 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] |
ChrX:152932818..156022206 [GRCh38] ChrX:152173071..155251871 [GRCh37] ChrX:151852018..154905065 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 |
copy number gain |
See cases [RCV000052491] |
ChrX:153395425..155687381 [GRCh38] ChrX:152314077..154570236 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 |
copy number gain |
See cases [RCV000052492] |
ChrX:153504314..154144797 [GRCh38] ChrX:152422966..153063464 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 |
copy number gain |
See cases [RCV000052445] |
ChrX:123731372..155687381 [GRCh38] ChrX:122865222..154917042 [GRCh37] ChrX:122692903..154570236 [NCBI36] ChrX:Xq25-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 |
copy number gain |
See cases [RCV000052471] |
ChrX:140226495..155687381 [GRCh38] ChrX:139308651..154917042 [GRCh37] ChrX:139136317..154570236 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:154022066-154092314)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052550]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052550]|See cases [RCV000052550] |
ChrX:154022066..154092314 [GRCh38] ChrX:152940711..153010966 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 |
copy number gain |
See cases [RCV000052474] |
ChrX:140445228..154604471 [GRCh38] ChrX:139527393..153832724 [GRCh37] ChrX:139355059..153485918 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 |
copy number gain |
See cases [RCV000052475] |
ChrX:141160282..155699618 [GRCh38] ChrX:140254480..154929279 [GRCh37] ChrX:140082146..154582473 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] |
ChrX:153585420..154427385 [GRCh38] ChrX:152864376..153655730 [GRCh37] ChrX:152504072..153308924 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 |
copy number gain |
See cases [RCV000052522] |
ChrX:153590730..154380801 [GRCh38] ChrX:152864376..153609161 [GRCh37] ChrX:152509382..153262355 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 |
copy number gain |
See cases [RCV000052523] |
ChrX:153714542..154380803 [GRCh38] ChrX:152633191..153262357 [NCBI36] ChrX:Xq28 |
pathogenic |
Single allele |
duplication |
not specified [RCV000173211] |
ChrX:153363075..153363076 [GRCh37] |
benign |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.1134C>T (p.His378=) |
single nucleotide variant |
Rett syndrome [RCV000660866]|Severe neonatal-onset encephalopathy with microcephaly [RCV002530584]|not provided [RCV001584521] |
ChrX:154030730 [GRCh38] ChrX:153296181 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.898G>A (p.Val300Met) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720695]|Rett syndrome [RCV000659841]|Severe neonatal-onset encephalopathy with microcephaly [RCV001513197] |
ChrX:154030966 [GRCh38] ChrX:153296417 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.890del (p.Lys297fs) |
deletion |
Rett syndrome [RCV000659840] |
ChrX:154030974 [GRCh38] ChrX:153296425 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.*14G>A |
single nucleotide variant |
Rett syndrome [RCV000169941]|not provided [RCV000678230]|not specified [RCV000081189] |
ChrX:154030353 [GRCh38] ChrX:153295804 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=) |
single nucleotide variant |
Inborn genetic diseases [RCV002415578]|Rett syndrome [RCV003380410]|Severe neonatal-onset encephalopathy with microcephaly [RCV000226173]|not provided [RCV003436928]|not specified [RCV000169921] |
ChrX:154030757 [GRCh38] ChrX:153296208 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002444549]|Rett syndrome [RCV000659842]|Severe neonatal-onset encephalopathy with microcephaly [RCV000458852]|not specified [RCV000081191] |
ChrX:154030702 [GRCh38] ChrX:153296153 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720865]|Rett syndrome [RCV003380411]|Severe neonatal-onset encephalopathy with microcephaly [RCV001087585]|not provided [RCV000587649]|not specified [RCV000081192] |
ChrX:154030691 [GRCh38] ChrX:153296142 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) |
single nucleotide variant |
Inborn genetic diseases [RCV002371928]|Rett syndrome [RCV000172863]|Severe neonatal-onset encephalopathy with microcephaly [RCV000864677]|not provided [RCV001705751]|not specified [RCV000081193] |
ChrX:154030667 [GRCh38] ChrX:153296118 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000716944]|Rett syndrome [RCV000202529]|Severe neonatal-onset encephalopathy with microcephaly [RCV001081987]|Severe neonatal-onset encephalopathy with microcephaly [RCV002498425]|not provided [RCV000224642]|not specified [RCV000081194] |
ChrX:154030639 [GRCh38] ChrX:153296090 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720763]|Rett syndrome [RCV003380412]|Severe neonatal-onset encephalopathy with microcephaly [RCV000755298]|not provided [RCV001529829]|not specified [RCV000169923] |
ChrX:154030631 [GRCh38] ChrX:153296082 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000715138]|Rett syndrome [RCV003380413]|Severe neonatal-onset encephalopathy with microcephaly [RCV000464380]|not provided [RCV000587510]|not specified [RCV000081196] |
ChrX:154030595 [GRCh38] ChrX:153296046 [GRCh37] ChrX:Xq28 |
benign|conflicting data from submitters|not provided |
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser) |
single nucleotide variant |
Rett syndrome [RCV002472322]|Severe neonatal-onset encephalopathy with microcephaly [RCV001520870]|not provided [RCV000081197] |
ChrX:154030513 [GRCh38] ChrX:153295964 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) |
single nucleotide variant |
Rett syndrome [RCV000659843]|Severe neonatal-onset encephalopathy with microcephaly [RCV001082471]|not provided [RCV000224116]|not specified [RCV000081198] |
ChrX:154030498 [GRCh38] ChrX:153295949 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000719389]|Rett syndrome [RCV003380414]|Severe neonatal-onset encephalopathy with microcephaly [RCV001085261]|not provided [RCV000712281]|not specified [RCV000081199] |
ChrX:154030493 [GRCh38] ChrX:153295944 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting data from submitters |
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) |
single nucleotide variant |
Rett syndrome [RCV003380415]|Severe neonatal-onset encephalopathy with microcephaly [RCV000532506]|Severe neonatal-onset encephalopathy with microcephaly [RCV003227636]|not provided [RCV001705752]|not specified [RCV000081200] |
ChrX:154030455 [GRCh38] ChrX:153295906 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000716805]|Rett syndrome [RCV002260608]|Severe neonatal-onset encephalopathy with microcephaly [RCV001087820]|not provided [RCV000712283]|not specified [RCV000081201] |
ChrX:154032209 [GRCh38] ChrX:153297660 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_001110792.2(MECP2):c.462C>T (p.Phe154=) |
single nucleotide variant |
Inborn genetic diseases [RCV002326797]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645137]|not provided [RCV002262623]|not specified [RCV000081203] |
ChrX:154031402 [GRCh38] ChrX:153296853 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) |
single nucleotide variant |
Rett syndrome [RCV000169946]|Severe neonatal-onset encephalopathy with microcephaly [RCV000815972]|not provided [RCV000081204] |
ChrX:154031360 [GRCh38] ChrX:153296811 [GRCh37] ChrX:Xq28 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000718465]|Severe neonatal-onset encephalopathy with microcephaly [RCV000470805]|not provided [RCV001529048]|not specified [RCV000081205] |
ChrX:154031246 [GRCh38] ChrX:153296697 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting data from submitters |
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002316245]|Rett syndrome [RCV001507027]|Severe neonatal-onset encephalopathy with microcephaly [RCV001079342]|not provided [RCV000232718]|not specified [RCV000081206] |
ChrX:154031220 [GRCh38] ChrX:153296671 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000623044]|Rett syndrome [RCV000169936]|not provided [RCV000790737] |
ChrX:154031217 [GRCh38] ChrX:153296668 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter) |
single nucleotide variant |
Rett syndrome [RCV000168689]|Severe neonatal-onset encephalopathy with microcephaly [RCV001854431]|not provided [RCV000178228] |
ChrX:154031098 [GRCh38] ChrX:153296549 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) |
single nucleotide variant |
Rett syndrome [RCV000225594]|Severe neonatal-onset encephalopathy with microcephaly [RCV001087780]|not provided [RCV000712285]|not specified [RCV000081210] |
ChrX:154031051 [GRCh38] ChrX:153296502 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.842del (p.Gly281fs) |
deletion |
Inborn genetic diseases [RCV000624370]|Rett syndrome [RCV000168691]|See cases [RCV002251971]|Severe neonatal-onset encephalopathy with microcephaly [RCV000169939]|Severe neonatal-onset encephalopathy with microcephaly [RCV000850572]|Severe neonatal-onset encephalopathy with microcephaly [RCV003227637]|Syndromic X-linked intellectual disability Lubs type [RCV003333025]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170113]|not provided [RCV000081211]|not specified [RCV001000009] |
ChrX:154031022 [GRCh38] ChrX:153296473 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) |
single nucleotide variant |
Rett syndrome [RCV003380416]|Severe neonatal-onset encephalopathy with microcephaly [RCV001522063]|not provided [RCV001704000]|not specified [RCV000081213] |
ChrX:154031013 [GRCh38] ChrX:153296464 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.897C>T (p.Ala299=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645128]|not provided [RCV001711243]|not specified [RCV000081214] |
ChrX:154030967 [GRCh38] ChrX:153296418 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000715091]|Rett syndrome [RCV003380417]|Severe neonatal-onset encephalopathy with microcephaly [RCV001080108]|Severe neonatal-onset encephalopathy with microcephaly [RCV002490712]|not provided [RCV000712287]|not specified [RCV000081216] |
ChrX:154030931 [GRCh38] ChrX:153296382 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.126G>A (p.Lys42=) |
single nucleotide variant |
not provided [RCV000081217] |
ChrX:154032494 [GRCh38] ChrX:153297945 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.972C>T (p.Val324=) |
single nucleotide variant |
Rett syndrome [RCV002260609]|not provided [RCV000723612]|not specified [RCV000081219] |
ChrX:154030892 [GRCh38] ChrX:153296343 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup) |
microsatellite |
Inborn genetic diseases [RCV002415577]|Rett syndrome [RCV002260607]|Severe neonatal-onset encephalopathy with microcephaly [RCV001081153]|not provided [RCV000079472]|not specified [RCV000170281] |
ChrX:154097642..154097643 [GRCh38] ChrX:153363099..153363100 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter) |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000119842]|Rett syndrome [RCV001507055]|not provided [RCV001582589] |
ChrX:154030381 [GRCh38] ChrX:153295832 [GRCh37] ChrX:Xq28 |
pathogenic|risk factor|uncertain significance |
NM_001110792.2(MECP2):c.72G>C (p.Lys24Asn) |
single nucleotide variant |
Rett syndrome [RCV003389405]|not specified [RCV000133081] |
ChrX:154032548 [GRCh38] ChrX:153297999 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.408G>C (p.Leu136Phe) |
single nucleotide variant |
Rett syndrome [RCV000133082] |
ChrX:154032212 [GRCh38] ChrX:153297663 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe) |
single nucleotide variant |
Rett syndrome [RCV000133083]|Severe neonatal-onset encephalopathy with microcephaly [RCV001383621] |
ChrX:154032212 [GRCh38] ChrX:153297663 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.411del (p.Asn138fs) |
deletion |
Rett syndrome [RCV000133084] |
ChrX:154032209 [GRCh38] ChrX:153297660 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu) |
single nucleotide variant |
Rett syndrome [RCV000133085]|Severe neonatal-onset encephalopathy with microcephaly [RCV000531543] |
ChrX:154031448 [GRCh38] ChrX:153296899 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.418C>T (p.Gln140Ter) |
single nucleotide variant |
Rett syndrome [RCV000133086]|Severe neonatal-onset encephalopathy with microcephaly [RCV000698528] |
ChrX:154031446 [GRCh38] ChrX:153296897 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002362775]|Rett syndrome [RCV000133087] |
ChrX:154031445 [GRCh38] ChrX:153296896 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.422G>T (p.Gly141Val) |
single nucleotide variant |
Rett syndrome [RCV000133088] |
ChrX:154031442 [GRCh38] ChrX:153296893 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) |
single nucleotide variant |
Rett syndrome [RCV000133089]|not provided [RCV003231161] |
ChrX:154031436 [GRCh38] ChrX:153296887 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000721058]|Rett syndrome [RCV001800453]|Severe neonatal-onset encephalopathy with microcephaly [RCV001518782]|not provided [RCV000415752]|not specified [RCV000133090] |
ChrX:154031435 [GRCh38] ChrX:153296886 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly) |
single nucleotide variant |
Rett syndrome [RCV000133091] |
ChrX:154031431 [GRCh38] ChrX:153296882 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.434G>A (p.Arg145His) |
single nucleotide variant |
Rett syndrome [RCV000169945]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514766]|not provided [RCV000133092] |
ChrX:154031430 [GRCh38] ChrX:153296881 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.434G>T (p.Arg145Leu) |
single nucleotide variant |
Rett syndrome [RCV000133093]|not provided [RCV001565841] |
ChrX:154031430 [GRCh38] ChrX:153296881 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.436T>C (p.Ser146Pro) |
single nucleotide variant |
Rett syndrome [RCV000133094] |
ChrX:154031428 [GRCh38] ChrX:153296879 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002371979]|Rett syndrome [RCV000133095]|Severe neonatal-onset encephalopathy with microcephaly [RCV000698431]|not provided [RCV000375578] |
ChrX:154031427 [GRCh38] ChrX:153296878 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.437C>T (p.Ser146Phe) |
single nucleotide variant |
Rett syndrome [RCV000133096]|not provided [RCV000255743] |
ChrX:154031427 [GRCh38] ChrX:153296878 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002354326]|Rett syndrome [RCV000133097]|not provided [RCV000424796] |
ChrX:154031425 [GRCh38] ChrX:153296876 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.447del (p.Glu149fs) |
deletion |
Rett syndrome [RCV000133099] |
ChrX:154031417 [GRCh38] ChrX:153296868 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter) |
single nucleotide variant |
Rett syndrome [RCV000133100] |
ChrX:154031415 [GRCh38] ChrX:153296866 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.449T>C (p.Leu150Ser) |
single nucleotide variant |
Rett syndrome [RCV000133101]|not provided [RCV001508975] |
ChrX:154031415 [GRCh38] ChrX:153296866 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.456del (p.Tyr153fs) |
deletion |
Rett syndrome [RCV000133103] |
ChrX:154031408 [GRCh38] ChrX:153296859 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys) |
single nucleotide variant |
Rett syndrome [RCV000133104]|Severe neonatal-onset encephalopathy with microcephaly [RCV001849959] |
ChrX:154031406 [GRCh38] ChrX:153296857 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.458dup (p.Tyr153Ter) |
duplication |
not provided [RCV000133105] |
ChrX:154031405..154031406 [GRCh38] ChrX:153296856..153296857 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.464_465insT (p.Glu155fs) |
insertion |
Rett syndrome [RCV000133107] |
ChrX:154031399..154031400 [GRCh38] ChrX:153296850..153296851 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.466A>T (p.Lys156Ter) |
single nucleotide variant |
Rett syndrome [RCV000133108] |
ChrX:154031398 [GRCh38] ChrX:153296849 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.467del (p.Lys156fs) |
deletion |
Rett syndrome [RCV000133109] |
ChrX:154031397 [GRCh38] ChrX:153296848 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1089_*2300del (p.Pro363_Ter499delinsXaa) |
deletion |
Rett syndrome [RCV001004661] |
ChrX:154028067..154030775 [GRCh38] ChrX:153293518..153296226 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.727G>T (p.Gly243Trp) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001312900] |
ChrX:154031137 [GRCh38] ChrX:153296588 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.474C>T (p.Gly158=) |
single nucleotide variant |
Rett syndrome [RCV001800454]|Severe neonatal-onset encephalopathy with microcephaly [RCV000556419]|not provided [RCV000133110] |
ChrX:154031390 [GRCh38] ChrX:153296841 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000717918]|Rett syndrome [RCV003389395]|Severe neonatal-onset encephalopathy with microcephaly [RCV000477494]|Severe neonatal-onset encephalopathy with microcephaly [RCV002492475]|not specified [RCV000169926] |
ChrX:154032374 [GRCh38] ChrX:153297825 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002316387]|Rett syndrome [RCV000225683]|Severe neonatal-onset encephalopathy with microcephaly [RCV001086086]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000626211]|not provided [RCV000224787]|not specified [RCV000169928] |
ChrX:154031238 [GRCh38] ChrX:153296689 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000717310]|Rett syndrome [RCV000202489]|Severe neonatal-onset encephalopathy with microcephaly [RCV001083234]|Severe neonatal-onset encephalopathy with microcephaly [RCV002498620]|not provided [RCV000224215]|not specified [RCV000153477] |
ChrX:154031226 [GRCh38] ChrX:153296677 [GRCh37] ChrX:Xq28 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
NM_001110792.2(MECP2):c.639G>A (p.Ala213=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000473085]|not specified [RCV000169927] |
ChrX:154031225 [GRCh38] ChrX:153296676 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.876C>T (p.Ala292=) |
single nucleotide variant |
Inborn genetic diseases [RCV002444590]|Rett syndrome [RCV002260612]|Severe neonatal-onset encephalopathy with microcephaly [RCV001088291]|not provided [RCV000415963]|not specified [RCV000169929] |
ChrX:154030988 [GRCh38] ChrX:153296439 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.879C>T (p.Ala293=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312905]|Rett syndrome [RCV003380419]|Severe neonatal-onset encephalopathy with microcephaly [RCV001080832]|not provided [RCV000469217]|not specified [RCV000168695] |
ChrX:154030985 [GRCh38] ChrX:153296436 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.906G>A (p.Glu302=) |
single nucleotide variant |
not specified [RCV000126716] |
ChrX:154030958 [GRCh38] ChrX:153296409 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000716152]|Rett syndrome [RCV003380420]|Severe neonatal-onset encephalopathy with microcephaly [RCV001084528]|not provided [RCV000757450]|not specified [RCV000146347] |
ChrX:154030793 [GRCh38] ChrX:153296244 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) |
single nucleotide variant |
Rett syndrome [RCV001507043]|Severe neonatal-onset encephalopathy with microcephaly [RCV001088580]|not provided [RCV000645138]|not specified [RCV000194285] |
ChrX:154030688 [GRCh38] ChrX:153296139 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002316388]|Rett syndrome [RCV002260613]|Severe neonatal-onset encephalopathy with microcephaly [RCV001088771]|Severe neonatal-onset encephalopathy with microcephaly [RCV002483250]|not provided [RCV000526298]|not specified [RCV000169924] |
ChrX:154030623 [GRCh38] ChrX:153296074 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=) |
single nucleotide variant |
Rett syndrome [RCV002260614]|Severe neonatal-onset encephalopathy with microcephaly [RCV001089287]|not provided [RCV000724588]|not specified [RCV000169925] |
ChrX:154030424 [GRCh38] ChrX:153295875 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316389]|Severe neonatal-onset encephalopathy with microcephaly [RCV000869611]|not provided [RCV001719898]|not specified [RCV000153484] |
ChrX:154030391 [GRCh38] ChrX:153295842 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 |
copy number gain |
See cases [RCV000133654] |
ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val) |
single nucleotide variant |
Rett syndrome [RCV000133137] |
ChrX:154031346 [GRCh38] ChrX:153296797 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.519del (p.Arg174fs) |
deletion |
Rett syndrome [RCV000133138] |
ChrX:154031345 [GRCh38] ChrX:153296796 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.520dup (p.Arg174fs) |
duplication |
Rett syndrome [RCV000133139] |
ChrX:154031343..154031344 [GRCh38] ChrX:153296794..153296795 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.524_525del (p.Gly175fs) |
deletion |
Rett syndrome [RCV000133140]|Severe neonatal-onset encephalopathy with microcephaly [RCV000170111] |
ChrX:154031339..154031340 [GRCh38] ChrX:153296790..153296791 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.531del (p.Ser178fs) |
deletion |
Rett syndrome [RCV003389407]|not provided [RCV000133141] |
ChrX:154031333 [GRCh38] ChrX:153296784 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002336285]|Rett syndrome [RCV000193537]|See cases [RCV002252000]|Severe neonatal-onset encephalopathy with microcephaly [RCV000688107]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133142]|not provided [RCV000498300] |
ChrX:154031329 [GRCh38] ChrX:153296780 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.544C>T (p.Gln182Ter) |
single nucleotide variant |
Rett syndrome [RCV000133144]|Severe neonatal-onset encephalopathy with microcephaly [RCV001219355] |
ChrX:154031320 [GRCh38] ChrX:153296771 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.86dup (p.Asp29fs) |
duplication |
Rett syndrome [RCV000133145] |
ChrX:154032533..154032534 [GRCh38] ChrX:153297984..153297985 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002515930]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133146] |
ChrX:154031314 [GRCh38] ChrX:153296765 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.551C>T (p.Pro184Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002336286]|MECP2-related condition [RCV003398778]|Severe neonatal-onset encephalopathy with microcephaly [RCV002055854]|not specified [RCV000133147] |
ChrX:154031313 [GRCh38] ChrX:153296764 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) |
single nucleotide variant |
Rett syndrome [RCV000133148]|Severe neonatal-onset encephalopathy with microcephaly [RCV000766084]|Severe neonatal-onset encephalopathy with microcephaly [RCV002055855]|not provided [RCV000513430] |
ChrX:154031311 [GRCh38] ChrX:153296762 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) |
single nucleotide variant |
Rett syndrome [RCV000192592]|Severe neonatal-onset encephalopathy with microcephaly [RCV000686598]|not specified [RCV000133149] |
ChrX:154031310 [GRCh38] ChrX:153296761 [GRCh37] ChrX:Xq28 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.559A>T (p.Lys187Ter) |
single nucleotide variant |
not provided [RCV000133150] |
ChrX:154031305 [GRCh38] ChrX:153296756 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg) |
single nucleotide variant |
Rett syndrome [RCV003380475]|Severe neonatal-onset encephalopathy with microcephaly [RCV002515931]|not provided [RCV000587767]|not specified [RCV000133151] |
ChrX:154031301 [GRCh38] ChrX:153296752 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.564C>G (p.Pro188=) |
single nucleotide variant |
Inborn genetic diseases [RCV002345448]|Rett syndrome [RCV001800455]|Severe neonatal-onset encephalopathy with microcephaly [RCV001520964]|not provided [RCV000133152] |
ChrX:154031300 [GRCh38] ChrX:153296751 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.565A>T (p.Lys189Ter) |
single nucleotide variant |
Rett syndrome [RCV003483518]|not provided [RCV000133153] |
ChrX:154031299 [GRCh38] ChrX:153296750 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.567del (p.Lys189fs) |
deletion |
Rett syndrome [RCV000133154] |
ChrX:154031297 [GRCh38] ChrX:153296748 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.574A>T (p.Lys192Ter) |
single nucleotide variant |
Rett syndrome [RCV000133155] |
ChrX:154031290 [GRCh38] ChrX:153296741 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.578C>T (p.Ala193Val) |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000133156] |
ChrX:154031286 [GRCh38] ChrX:153296737 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.579_580del (p.Pro194fs) |
deletion |
Rett syndrome [RCV000133157] |
ChrX:154031284..154031285 [GRCh38] ChrX:153296735..153296736 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.583G>C (p.Gly195Arg) |
single nucleotide variant |
not specified [RCV000133158] |
ChrX:154031281 [GRCh38] ChrX:153296732 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.590del (p.Gly197fs) |
deletion |
Rett syndrome [RCV000133159] |
ChrX:154031274 [GRCh38] ChrX:153296725 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.91C>T (p.Gln31Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002316919]|Rett syndrome [RCV000133160] |
ChrX:154032529 [GRCh38] ChrX:153297980 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.602del (p.Gly201fs) |
deletion |
Rett syndrome [RCV000133161] |
ChrX:154031262 [GRCh38] ChrX:153296713 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.602dup (p.Arg202fs) |
duplication |
Rett syndrome [RCV000133162] |
ChrX:154031261..154031262 [GRCh38] ChrX:153296712..153296713 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.603dup (p.Arg202fs) |
duplication |
Rett syndrome [RCV000133163] |
ChrX:154031260..154031261 [GRCh38] ChrX:153296711..153296712 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.92dup (p.Leu33fs) |
duplication |
Rett syndrome [RCV000194653]|not provided [RCV000133164] |
ChrX:154032527..154032528 [GRCh38] ChrX:153297978..153297979 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.609C>T (p.Pro203=) |
single nucleotide variant |
Rett syndrome [RCV003380476]|not specified [RCV000133165] |
ChrX:154031255 [GRCh38] ChrX:153296706 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.621C>T (p.Gly207=) |
single nucleotide variant |
Inborn genetic diseases [RCV002354327]|Severe neonatal-onset encephalopathy with microcephaly [RCV000558061]|not provided [RCV001729406]|not specified [RCV000133166] |
ChrX:154031243 [GRCh38] ChrX:153296694 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720795]|Rett syndrome [RCV000990999]|Severe neonatal-onset encephalopathy with microcephaly [RCV000533995]|Severe neonatal-onset encephalopathy with microcephaly [RCV002498652]|not provided [RCV001529816]|not specified [RCV000133167] |
ChrX:154031241 [GRCh38] ChrX:153296692 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.627G>A (p.Thr209=) |
single nucleotide variant |
Inborn genetic diseases [RCV002354328]|Rett syndrome [RCV003380477]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645126]|not specified [RCV000133168] |
ChrX:154031237 [GRCh38] ChrX:153296688 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.628A>T (p.Arg210Ter) |
single nucleotide variant |
Rett syndrome [RCV000133169] |
ChrX:154031236 [GRCh38] ChrX:153296687 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.632C>A (p.Pro211His) |
single nucleotide variant |
Rett syndrome [RCV003483519]|Schizophrenia [RCV000133170] |
ChrX:154031232 [GRCh38] ChrX:153296683 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.634A>T (p.Lys212Ter) |
single nucleotide variant |
Rett syndrome [RCV000133171] |
ChrX:154031230 [GRCh38] ChrX:153296681 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.637dup (p.Ala213fs) |
duplication |
Rett syndrome [RCV000133172] |
ChrX:154031226..154031227 [GRCh38] ChrX:153296677..153296678 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.644_645insA (p.Ser216fs) |
insertion |
Rett syndrome [RCV000133173] |
ChrX:154031219..154031220 [GRCh38] ChrX:153296670..153296671 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.645G>A (p.Thr215=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000527600]|not provided [RCV003436955]|not specified [RCV000133174] |
ChrX:154031219 [GRCh38] ChrX:153296670 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.647_648delinsAG (p.Ser216Ter) |
indel |
Rett syndrome [RCV000133175] |
ChrX:154031216..154031217 [GRCh38] ChrX:153296667..153296668 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.649G>T (p.Glu217Ter) |
single nucleotide variant |
Rett syndrome [RCV000133176] |
ChrX:154031215 [GRCh38] ChrX:153296666 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.653G>A (p.Gly218Asp) |
single nucleotide variant |
not provided [RCV000133177] |
ChrX:154031211 [GRCh38] ChrX:153296662 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala) |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000133178]|Rett syndrome [RCV002472327]|Severe neonatal-onset encephalopathy with microcephaly [RCV000457783]|not provided [RCV001711300] |
ChrX:154031211 [GRCh38] ChrX:153296662 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.653del (p.Gly218fs) |
deletion |
Rett syndrome [RCV000133179] |
ChrX:154031211 [GRCh38] ChrX:153296662 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.656dup (p.Gln220fs) |
duplication |
Rett syndrome [RCV000133180] |
ChrX:154031207..154031208 [GRCh38] ChrX:153296658..153296659 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.658C>T (p.Gln220Ter) |
single nucleotide variant |
Rett syndrome [RCV000133181]|not provided [RCV000760380] |
ChrX:154031206 [GRCh38] ChrX:153296657 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.665A>T (p.Lys222Ile) |
single nucleotide variant |
Rett syndrome [RCV000133182] |
ChrX:154031199 [GRCh38] ChrX:153296650 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002354329]|Rett syndrome [RCV003380478]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645121]|not provided [RCV001719907]|not specified [RCV000133184] |
ChrX:154031195 [GRCh38] ChrX:153296646 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.671_691del (p.Val224_Lys231delinsGlu) |
deletion |
Rett syndrome [RCV000133185] |
ChrX:154031173..154031193 [GRCh38] ChrX:153296624..153296644 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.677_689del (p.Glu226fs) |
deletion |
not provided [RCV000133186] |
ChrX:154031175..154031187 [GRCh38] ChrX:153296626..153296638 [GRCh37] ChrX:Xq28 |
likely pathogenic|not provided |
NM_001110792.2(MECP2):c.100A>T (p.Lys34Ter) |
single nucleotide variant |
Rett syndrome [RCV000133187] |
ChrX:154032520 [GRCh38] ChrX:153297971 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.687_688del (p.Gly230fs) |
deletion |
Rett syndrome [RCV000133188] |
ChrX:154031176..154031177 [GRCh38] ChrX:153296627..153296628 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.690_693del (p.Lys231fs) |
deletion |
Rett syndrome [RCV000133189] |
ChrX:154031171..154031174 [GRCh38] ChrX:153296622..153296625 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.696C>T (p.Leu232=) |
single nucleotide variant |
Rett syndrome [RCV003380479]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514767]|not provided [RCV000842156]|not specified [RCV000168687] |
ChrX:154031168 [GRCh38] ChrX:153296619 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
NM_001110792.2(MECP2):c.702C>G (p.Val234=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645133]|not specified [RCV000133191] |
ChrX:154031162 [GRCh38] ChrX:153296613 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr) |
single nucleotide variant |
Rett syndrome [RCV000193090]|not provided [RCV000133192] |
ChrX:154031155 [GRCh38] ChrX:153296606 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) |
single nucleotide variant |
Rett syndrome [RCV000133193]|Seizure [RCV000626873]|Severe neonatal-onset encephalopathy with microcephaly [RCV000476280]|not provided [RCV001090502] |
ChrX:154031154 [GRCh38] ChrX:153296605 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.712_713insA (p.Phe238fs) |
insertion |
Rett syndrome [RCV000133195] |
ChrX:154031151..154031152 [GRCh38] ChrX:153296602..153296603 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.713_714insA (p.Phe238fs) |
insertion |
Rett syndrome [RCV000133196] |
ChrX:154031150..154031151 [GRCh38] ChrX:153296601..153296602 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu) |
single nucleotide variant |
Rett syndrome [RCV002472328]|Severe neonatal-onset encephalopathy with microcephaly [RCV001522685]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133197] |
ChrX:154031149 [GRCh38] ChrX:153296600 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000715147]|Severe neonatal-onset encephalopathy with microcephaly [RCV000535349]|not provided [RCV001705937]|not specified [RCV000146356] |
ChrX:154031145 [GRCh38] ChrX:153296596 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter) |
single nucleotide variant |
Rett syndrome [RCV000193948]|not provided [RCV000133199] |
ChrX:154031142 [GRCh38] ChrX:153296593 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000460836]|not provided [RCV001719908]|not specified [RCV000133200] |
ChrX:154031142 [GRCh38] ChrX:153296593 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.726A>C (p.Pro242=) |
single nucleotide variant |
Rett syndrome [RCV003380480]|Severe neonatal-onset encephalopathy with microcephaly [RCV001499651]|not specified [RCV000133201] |
ChrX:154031138 [GRCh38] ChrX:153296589 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala) |
single nucleotide variant |
Rett syndrome [RCV003380481]|Severe neonatal-onset encephalopathy with microcephaly [RCV000547951]|not provided [RCV001689676]|not specified [RCV000133202] |
ChrX:154031133 [GRCh38] ChrX:153296584 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.731del (p.Gly244fs) |
deletion |
Rett syndrome [RCV000133203]|Severe neonatal-onset encephalopathy with microcephaly [RCV001385710]|not provided [RCV003137641] |
ChrX:154031133 [GRCh38] ChrX:153296584 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.731dup (p.Lys245fs) |
duplication |
Rett syndrome [RCV000133204] |
ChrX:154031132..154031133 [GRCh38] ChrX:153296583..153296584 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.732del (p.Lys245fs) |
deletion |
Rett syndrome [RCV000133205]|Severe neonatal-onset encephalopathy with microcephaly [RCV001233179] |
ChrX:154031132 [GRCh38] ChrX:153296583 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.746G>T (p.Gly249Val) |
single nucleotide variant |
not provided [RCV000133206] |
ChrX:154031118 [GRCh38] ChrX:153296569 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.746dup (p.Gly250fs) |
duplication |
Autism, susceptibility to, X-linked 3 [RCV003156073]|Rett syndrome [RCV000133208]|Severe neonatal-onset encephalopathy with microcephaly [RCV002515932] |
ChrX:154031117..154031118 [GRCh38] ChrX:153296568..153296569 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.751del (p.Ala251fs) |
deletion |
not provided [RCV000133209] |
ChrX:154031113 [GRCh38] ChrX:153296564 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.756C>G (p.Thr252=) |
single nucleotide variant |
not specified [RCV000133210] |
ChrX:154031108 [GRCh38] ChrX:153296559 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.756C>T (p.Thr252=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001500045]|not specified [RCV000133211] |
ChrX:154031108 [GRCh38] ChrX:153296559 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.756dup (p.Thr253fs) |
duplication |
Rett syndrome [RCV000133212] |
ChrX:154031107..154031108 [GRCh38] ChrX:153296558..153296559 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.770_795del (p.Val257fs) |
deletion |
Rett syndrome [RCV000133213] |
ChrX:154031069..154031094 [GRCh38] ChrX:153296520..153296545 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.772_773insAT (p.Met258fs) |
insertion |
Rett syndrome [RCV000133214] |
ChrX:154031091..154031092 [GRCh38] ChrX:153296542..153296543 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) |
indel |
Rett syndrome [RCV000194193]|not provided [RCV000133215] |
ChrX:154031085..154031092 [GRCh38] ChrX:153296536..153296543 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.775del (p.Met258_Val259insTer) |
deletion |
Rett syndrome [RCV000133216] |
ChrX:154031089 [GRCh38] ChrX:153296540 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.783_787dup (p.Pro263fs) |
duplication |
Rett syndrome [RCV000133217] |
ChrX:154031076..154031077 [GRCh38] ChrX:153296527..153296528 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.784_785insT (p.Arg262fs) |
insertion |
Rett syndrome [RCV000133218] |
ChrX:154031079..154031080 [GRCh38] ChrX:153296530..153296531 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.784_789delinsGGCCG (p.Arg262fs) |
indel |
Rett syndrome [RCV000133219] |
ChrX:154031075..154031080 [GRCh38] ChrX:153296526..153296531 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.784dup (p.Arg262fs) |
duplication |
Rett syndrome [RCV000133220]|not provided [RCV000678235] |
ChrX:154031079..154031080 [GRCh38] ChrX:153296530..153296531 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000721068]|MECP2-related condition [RCV003390828]|Rett syndrome [RCV001800456]|Severe neonatal-onset encephalopathy with microcephaly [RCV001231150]|not provided [RCV001588992]|not specified [RCV000133221] |
ChrX:154031079 [GRCh38] ChrX:153296530 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.786C>A (p.Arg262=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001089025]|not provided [RCV000133222] |
ChrX:154031078 [GRCh38] ChrX:153296529 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316920]|Rett syndrome [RCV003380482]|Severe neonatal-onset encephalopathy with microcephaly [RCV000528933]|not provided [RCV001711301]|not specified [RCV000146357] |
ChrX:154031078 [GRCh38] ChrX:153296529 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.788C>T (p.Pro263Leu) |
single nucleotide variant |
not specified [RCV000133225] |
ChrX:154031076 [GRCh38] ChrX:153296527 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) |
duplication |
Rett syndrome [RCV000169937]|not provided [RCV000133226] |
ChrX:154031074..154031075 [GRCh38] ChrX:153296525..153296526 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000719501]|Severe neonatal-onset encephalopathy with microcephaly [RCV001085738]|not provided [RCV000712284]|not specified [RCV000133227] |
ChrX:154031075 [GRCh38] ChrX:153296526 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.789del (p.Gly264fs) |
deletion |
MECP2-Related Disorders [RCV003335128]|Rett syndrome [RCV000133228]|not provided [RCV000724123] |
ChrX:154031075 [GRCh38] ChrX:153296526 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) |
duplication |
Rett syndrome [RCV000133229]|Severe neonatal-onset encephalopathy with microcephaly [RCV000170112]|not provided [RCV000144424] |
ChrX:154031074..154031075 [GRCh38] ChrX:153296525..153296526 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.791del (p.Gly264fs) |
deletion |
Rett syndrome [RCV000133230] |
ChrX:154031073 [GRCh38] ChrX:153296524 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.791dup (p.Arg265fs) |
duplication |
Rett syndrome [RCV000133231] |
ChrX:154031072..154031073 [GRCh38] ChrX:153296523..153296524 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.792_795del (p.Arg265fs) |
deletion |
Rett syndrome [RCV000133232] |
ChrX:154031069..154031072 [GRCh38] ChrX:153296520..153296523 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.792_799dup (p.Arg267fs) |
duplication |
Rett syndrome [RCV000133233] |
ChrX:154031064..154031065 [GRCh38] ChrX:153296515..153296516 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.796A>T (p.Lys266Ter) |
single nucleotide variant |
not provided [RCV000133234] |
ChrX:154031068 [GRCh38] ChrX:153296519 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.802_815dup (p.Asp272fs) |
duplication |
Rett syndrome [RCV000133235] |
ChrX:154031048..154031049 [GRCh38] ChrX:153296499..153296500 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.112del (p.Leu38fs) |
deletion |
Rett syndrome [RCV000133236]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV001808401] |
ChrX:154032508 [GRCh38] ChrX:153297959 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.820C>T (p.Gln274Ter) |
single nucleotide variant |
MECP2-related condition [RCV003422031]|Rett syndrome [RCV000133237] |
ChrX:154031044 [GRCh38] ChrX:153296495 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.828_829del (p.Pro277fs) |
deletion |
Rett syndrome [RCV000133238] |
ChrX:154031035..154031036 [GRCh38] ChrX:153296486..153296487 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.831C>G (p.Pro277=) |
single nucleotide variant |
Rett syndrome [RCV003380483]|not provided [RCV001650988]|not specified [RCV000133239] |
ChrX:154031033 [GRCh38] ChrX:153296484 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.835A>T (p.Lys279Ter) |
single nucleotide variant |
Rett syndrome [RCV000133240] |
ChrX:154031029 [GRCh38] ChrX:153296480 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) |
single nucleotide variant |
Rett syndrome [RCV001800457]|Severe neonatal-onset encephalopathy with microcephaly [RCV000707260]|Severe neonatal-onset encephalopathy with microcephaly [RCV000766083]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV001284746]|not provided [RCV000133241] |
ChrX:154031026 [GRCh38] ChrX:153296477 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.844C>G (p.Arg282Gly) |
single nucleotide variant |
not provided [RCV000133242] |
ChrX:154031020 [GRCh38] ChrX:153296471 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.844del (p.Arg282fs) |
deletion |
Rett syndrome [RCV000168692]|Severe neonatal-onset encephalopathy with microcephaly [RCV000133243]|not provided [RCV001008096] |
ChrX:154031020 [GRCh38] ChrX:153296471 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.846_849del (p.Lys283fs) |
deletion |
Rett syndrome [RCV000133244] |
ChrX:154031015..154031018 [GRCh38] ChrX:153296466..153296469 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.848_854del (p.Lys283fs) |
deletion |
Rett syndrome [RCV000133245] |
ChrX:154031010..154031016 [GRCh38] ChrX:153296461..153296467 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.852_868del (p.Gly285fs) |
deletion |
Rett syndrome [RCV000133247] |
ChrX:154030996..154031012 [GRCh38] ChrX:153296447..153296463 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.855G>T (p.Gly285=) |
single nucleotide variant |
Inborn genetic diseases [RCV002426696]|Rett syndrome [RCV000172862]|Severe neonatal-onset encephalopathy with microcephaly [RCV001079813]|not provided [RCV000712286]|not specified [RCV000133248] |
ChrX:154031009 [GRCh38] ChrX:153296460 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.855del (p.Ser286fs) |
deletion |
not provided [RCV000133249] |
ChrX:154031009 [GRCh38] ChrX:153296460 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.866del (p.Ala289fs) |
deletion |
Rett syndrome [RCV000133250] |
ChrX:154030998 [GRCh38] ChrX:153296449 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000716695]|Severe neonatal-onset encephalopathy with microcephaly [RCV001080240]|not provided [RCV000589640]|not specified [RCV000168694] |
ChrX:154030994 [GRCh38] ChrX:153296445 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) |
single nucleotide variant |
Rett syndrome [RCV000133252]|Severe neonatal-onset encephalopathy with microcephaly [RCV002274929] |
ChrX:154030992 [GRCh38] ChrX:153296443 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.885C>G (p.Ala295=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312955]|Severe neonatal-onset encephalopathy with microcephaly [RCV000462569]|not provided [RCV001705938]|not specified [RCV000146346] |
ChrX:154030979 [GRCh38] ChrX:153296430 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
NM_001110792.2(MECP2):c.886A>G (p.Lys296Glu) |
single nucleotide variant |
X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133254] |
ChrX:154030978 [GRCh38] ChrX:153296429 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.890dup (p.Lys298fs) |
duplication |
not provided [RCV000133255] |
ChrX:154030973..154030974 [GRCh38] ChrX:153296424..153296425 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.892_895del (p.Lys298fs) |
microsatellite |
Inborn genetic diseases [RCV001265859]|Rett syndrome [RCV000168696]|Severe neonatal-onset encephalopathy with microcephaly [RCV000816077] |
ChrX:154030969..154030972 [GRCh38] ChrX:153296420..153296423 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.893A>G (p.Lys298Arg) |
single nucleotide variant |
Rett syndrome [RCV003483520]|not specified [RCV000133257] |
ChrX:154030971 [GRCh38] ChrX:153296422 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro) |
single nucleotide variant |
Rett syndrome [RCV000133258]|Severe neonatal-onset encephalopathy with microcephaly [RCV000794396]|not specified [RCV000417939] |
ChrX:154030969 [GRCh38] ChrX:153296420 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.900dup (p.Lys301fs) |
duplication |
Rett syndrome [RCV003380484]|not provided [RCV000133259] |
ChrX:154030963..154030964 [GRCh38] ChrX:153296414..153296415 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter) |
single nucleotide variant |
Rett syndrome [RCV000133260] |
ChrX:154030963 [GRCh38] ChrX:153296414 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.901_902del (p.Lys301fs) |
deletion |
Rett syndrome [RCV000133261] |
ChrX:154030962..154030963 [GRCh38] ChrX:153296413..153296414 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.905dup (p.Ser303fs) |
duplication |
Rett syndrome [RCV000133262] |
ChrX:154030958..154030959 [GRCh38] ChrX:153296409..153296410 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.907T>G (p.Ser303Ala) |
single nucleotide variant |
Rett syndrome [RCV000133263] |
ChrX:154030957 [GRCh38] ChrX:153296408 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.910_911insA (p.Ser304fs) |
insertion |
Rett syndrome [RCV000133264] |
ChrX:154030953..154030954 [GRCh38] ChrX:153296404..153296405 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.916_920del (p.Arg306fs) |
deletion |
Rett syndrome [RCV000133265] |
ChrX:154030944..154030948 [GRCh38] ChrX:153296395..153296399 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.917G>C (p.Arg306Pro) |
single nucleotide variant |
not specified [RCV000133266] |
ChrX:154030947 [GRCh38] ChrX:153296398 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.917_938del (p.Arg306fs) |
deletion |
Rett syndrome [RCV000133267] |
ChrX:154030926..154030947 [GRCh38] ChrX:153296377..153296398 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.919del (p.Ser307fs) |
deletion |
Rett syndrome [RCV000133268] |
ChrX:154030945 [GRCh38] ChrX:153296396 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.925C>T (p.Gln309Ter) |
single nucleotide variant |
Rett syndrome [RCV000133269]|Severe neonatal-onset encephalopathy with microcephaly [RCV000688413] |
ChrX:154030939 [GRCh38] ChrX:153296390 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.934_937del (p.Val312fs) |
deletion |
Rett syndrome [RCV000133271] |
ChrX:154030927..154030930 [GRCh38] ChrX:153296378..153296381 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.934_940del (p.Val312fs) |
deletion |
Rett syndrome [RCV000133272] |
ChrX:154030924..154030930 [GRCh38] ChrX:153296375..153296381 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.934del (p.Val312fs) |
deletion |
Rett syndrome [RCV000133273] |
ChrX:154030930 [GRCh38] ChrX:153296381 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.936_944del (p.Leu313_Ile315del) |
deletion |
Rett syndrome [RCV000133274] |
ChrX:154030920..154030928 [GRCh38] ChrX:153296371..153296379 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.939C>T (p.Leu313=) |
single nucleotide variant |
Rett syndrome [RCV003380485]|not specified [RCV000133275] |
ChrX:154030925 [GRCh38] ChrX:153296376 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.940C>A (p.Pro314Thr) |
single nucleotide variant |
Rett syndrome [RCV000133276] |
ChrX:154030924 [GRCh38] ChrX:153296375 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala) |
single nucleotide variant |
Rett syndrome [RCV000133277]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002247514] |
ChrX:154030924 [GRCh38] ChrX:153296375 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) |
single nucleotide variant |
Rett syndrome [RCV000133278]|Severe neonatal-onset encephalopathy with microcephaly [RCV001067586]|not provided [RCV001812116] |
ChrX:154030924 [GRCh38] ChrX:153296375 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.941C>A (p.Pro314His) |
single nucleotide variant |
Rett syndrome [RCV000133279]|Severe neonatal-onset encephalopathy with microcephaly [RCV001237156]|not provided [RCV001571974] |
ChrX:154030923 [GRCh38] ChrX:153296374 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg) |
single nucleotide variant |
Rett syndrome [RCV000133280]|Severe neonatal-onset encephalopathy with microcephaly [RCV002515933]|not provided [RCV003114287] |
ChrX:154030923 [GRCh38] ChrX:153296374 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) |
single nucleotide variant |
Rett syndrome [RCV000133281]|Severe neonatal-onset encephalopathy with microcephaly [RCV000754784]|not provided [RCV000413239] |
ChrX:154030923 [GRCh38] ChrX:153296374 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.942C>G (p.Pro314=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001395758]|not specified [RCV000133282] |
ChrX:154030922 [GRCh38] ChrX:153296373 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.942del (p.Ile315fs) |
deletion |
Rett syndrome [RCV000133283] |
ChrX:154030922 [GRCh38] ChrX:153296373 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.944T>G (p.Ile315Ser) |
single nucleotide variant |
Rett syndrome [RCV000133284] |
ChrX:154030920 [GRCh38] ChrX:153296371 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu) |
single nucleotide variant |
Rett syndrome [RCV000133286]|not provided [RCV001564211] |
ChrX:154030918 [GRCh38] ChrX:153296369 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.947A>G (p.Lys316Arg) |
single nucleotide variant |
not specified [RCV000133287] |
ChrX:154030917 [GRCh38] ChrX:153296368 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.949A>G (p.Lys317Glu) |
single nucleotide variant |
Rett syndrome [RCV000133288] |
ChrX:154030915 [GRCh38] ChrX:153296366 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg) |
single nucleotide variant |
Rett syndrome [RCV000133289]|Severe neonatal-onset encephalopathy with microcephaly [RCV002515934] |
ChrX:154030914 [GRCh38] ChrX:153296365 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) |
single nucleotide variant |
Neurodevelopmental disorder [RCV001778753]|Rett syndrome [RCV000133290]|Severe neonatal-onset encephalopathy with microcephaly [RCV001857484]|not provided [RCV000256087] |
ChrX:154030911 [GRCh38] ChrX:153296362 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.953G>T (p.Arg318Leu) |
single nucleotide variant |
Rett syndrome [RCV001420142]|not provided [RCV000133291] |
ChrX:154030911 [GRCh38] ChrX:153296362 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.127del (p.Lys42_Val43insTer) |
deletion |
Rett syndrome [RCV000133292] |
ChrX:154032493 [GRCh38] ChrX:153297944 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000170240]|Inborn genetic diseases [RCV000624661]|Intellectual disability [RCV000851523]|Rett syndrome [RCV000170241]|Severe neonatal-onset encephalopathy with microcephaly [RCV001049007]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000169947]|not provided [RCV000133293] |
ChrX:154030903 [GRCh38] ChrX:153296354 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000717800]|Rett syndrome [RCV003380486]|Severe neonatal-onset encephalopathy with microcephaly [RCV000472062]|Severe neonatal-onset encephalopathy with microcephaly [RCV002492518]|not provided [RCV001682841]|not specified [RCV000133295] |
ChrX:154030886 [GRCh38] ChrX:153296337 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.984C>G (p.Val328=) |
single nucleotide variant |
Rett syndrome [RCV003380487]|Severe neonatal-onset encephalopathy with microcephaly [RCV001504798]|not specified [RCV000133296] |
ChrX:154030880 [GRCh38] ChrX:153296331 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.989A>C (p.Glu330Ala) |
single nucleotide variant |
Rett syndrome [RCV000169948]|not provided [RCV000133297] |
ChrX:154030875 [GRCh38] ChrX:153296326 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) |
single nucleotide variant |
Rett syndrome [RCV000169949]|not provided [RCV002262751] |
ChrX:154030864 [GRCh38] ChrX:153296315 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) |
single nucleotide variant |
Rett syndrome [RCV000133300]|Severe neonatal-onset encephalopathy with microcephaly [RCV001849960]|not provided [RCV000414666] |
ChrX:154030863 [GRCh38] ChrX:153296314 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1001_1006del (p.Pro334_Leu335del) |
deletion |
not provided [RCV000133301] |
ChrX:154030858..154030863 [GRCh38] ChrX:153296309..153296314 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val) |
single nucleotide variant |
Rett syndrome [RCV000133302]|Severe neonatal-onset encephalopathy with microcephaly [RCV001372487]|not provided [RCV001753520] |
ChrX:154030846 [GRCh38] ChrX:153296297 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1020C>A (p.Leu340=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002514768]|not specified [RCV000133303] |
ChrX:154030844 [GRCh38] ChrX:153296295 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) |
single nucleotide variant |
Inborn genetic diseases [RCV002381449]|Rett syndrome [RCV003380488]|Severe neonatal-onset encephalopathy with microcephaly [RCV000863441]|not provided [RCV001705939]|not specified [RCV000168697] |
ChrX:154030844 [GRCh38] ChrX:153296295 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.1021G>A (p.Gly341Ser) |
single nucleotide variant |
Rett syndrome [RCV003380489]|Severe neonatal-onset encephalopathy with microcephaly [RCV001518051]|not specified [RCV000133305] |
ChrX:154030843 [GRCh38] ChrX:153296294 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.1025_1030delinsGCATCTTCTCCTCTTT (p.Glu342fs) |
indel |
Rett syndrome [RCV000133306] |
ChrX:154030834..154030839 [GRCh38] ChrX:153296285..153296290 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.1028A>G (p.Lys343Arg) |
single nucleotide variant |
Rett syndrome [RCV003389408]|Severe neonatal-onset encephalopathy with microcephaly [RCV001512172]|not specified [RCV000133307] |
ChrX:154030836 [GRCh38] ChrX:153296287 [GRCh37] ChrX:Xq28 |
benign|uncertain significance|not provided |
NM_001110792.2(MECP2):c.1025AGA[1] (p.Lys343del) |
microsatellite |
not provided [RCV000133308] |
ChrX:154030834..154030836 [GRCh38] ChrX:153296285..153296287 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1030_1034del (p.Ser344fs) |
deletion |
Rett syndrome [RCV000133309] |
ChrX:154030830..154030834 [GRCh38] ChrX:153296281..153296285 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312956]|Rett syndrome [RCV003380490]|Severe neonatal-onset encephalopathy with microcephaly [RCV001086747]|not provided [RCV000418955]|not specified [RCV000133310] |
ChrX:154030832 [GRCh38] ChrX:153296283 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_001110792.2(MECP2):c.1035G>T (p.Gly345=) |
single nucleotide variant |
not specified [RCV000133311] |
ChrX:154030829 [GRCh38] ChrX:153296280 [GRCh37] ChrX:Xq28 |
benign|not provided |
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV003214133] |
ChrX:139586015..154774957 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
NM_001110792.2(MECP2):c.475G>A (p.Asp159Asn) |
single nucleotide variant |
not specified [RCV000133111] |
ChrX:154031389 [GRCh38] ChrX:153296840 [GRCh37] ChrX:Xq28 |
benign|not provided |
NM_001110792.2(MECP2):c.475del (p.Asp159fs) |
deletion |
Rett syndrome [RCV000133112] |
ChrX:154031389 [GRCh38] ChrX:153296840 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.487del (p.Asp163fs) |
deletion |
Rett syndrome [RCV000133113] |
ChrX:154031377 [GRCh38] ChrX:153296828 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) |
single nucleotide variant |
Rett syndrome [RCV000133114]|Severe neonatal-onset encephalopathy with microcephaly [RCV000801156] |
ChrX:154031376 [GRCh38] ChrX:153296827 [GRCh37] ChrX:Xq28 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002326847]|Rett syndrome [RCV000133116]|Severe neonatal-onset encephalopathy with microcephaly [RCV000801154]|Severe neonatal-onset encephalopathy with microcephaly [RCV003224165]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002247513]|not provided [RCV000254929]|not specified [RCV000445575] |
ChrX:154031373 [GRCh38] ChrX:153296824 [GRCh37] ChrX:Xq28 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.499T>A (p.Phe167Ile) |
single nucleotide variant |
Rett syndrome [RCV000133117] |
ChrX:154031365 [GRCh38] ChrX:153296816 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys) |
single nucleotide variant |
Rett syndrome [RCV000170275]|not provided [RCV000133119] |
ChrX:154031364 [GRCh38] ChrX:153296815 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records|not provided |
NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala) |
single nucleotide variant |
Rett syndrome [RCV000133120] |
ChrX:154031361 [GRCh38] ChrX:153296812 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV001267441]|Rett syndrome [RCV000133121] |
ChrX:154031361 [GRCh38] ChrX:153296812 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.504C>T (p.Asp168=) |
single nucleotide variant |
not provided [RCV000133122] |
ChrX:154031360 [GRCh38] ChrX:153296811 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) |
single nucleotide variant |
Rett syndrome [RCV000170239]|Severe neonatal-onset encephalopathy with microcephaly [RCV000133123]|not provided [RCV001815200] |
ChrX:154031359 [GRCh38] ChrX:153296810 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.82C>T (p.Gln28Ter) |
single nucleotide variant |
Rett syndrome [RCV003389406]|not provided [RCV000133124] |
ChrX:154032538 [GRCh38] ChrX:153297989 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.506_507del (p.Phe169fs) |
deletion |
Rett syndrome [RCV000133125] |
ChrX:154031357..154031358 [GRCh38] ChrX:153296808..153296809 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.506dup (p.Thr170fs) |
duplication |
Rett syndrome [RCV000133126] |
ChrX:154031357..154031358 [GRCh38] ChrX:153296808..153296809 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.507C>G (p.Phe169Leu) |
single nucleotide variant |
Rett syndrome [RCV000133127]|Severe neonatal-onset encephalopathy with microcephaly [RCV001385711] |
ChrX:154031357 [GRCh38] ChrX:153296808 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.508A>G (p.Thr170Ala) |
single nucleotide variant |
Rett syndrome [RCV000133128]|not provided [RCV000482544] |
ChrX:154031356 [GRCh38] ChrX:153296807 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.510G>A (p.Thr170=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002055853]|not provided [RCV001090503]|not specified [RCV000133130] |
ChrX:154031354 [GRCh38] ChrX:153296805 [GRCh37] ChrX:Xq28 |
benign|likely benign|not provided |
NM_001110792.2(MECP2):c.511del (p.Thr170_Val171insTer) |
deletion |
Rett syndrome [RCV000133131] |
ChrX:154031353 [GRCh38] ChrX:153296804 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|not provided |
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser) |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV000133132]|Rett syndrome [RCV001332544] |
ChrX:154031349 [GRCh38] ChrX:153296800 [GRCh37] ChrX:Xq28 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001110792.2(MECP2):c.516_517del (p.Gly173fs) |
deletion |
Rett syndrome [RCV000133133]|not provided [RCV000255199] |
ChrX:154031347..154031348 [GRCh38] ChrX:153296798..153296799 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.516del (p.Arg174fs) |
deletion |
Rett syndrome [RCV000133134] |
ChrX:154031348 [GRCh38] ChrX:153296799 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp) |
single nucleotide variant |
Rett syndrome [RCV000133135] |
ChrX:154031347 [GRCh38] ChrX:153296798 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance|not provided |
NM_001110792.2(MECP2):c.518G>A (p.Gly173Glu) |
single nucleotide variant |
Rett syndrome [RCV000133136] |
ChrX:154031346 [GRCh38] ChrX:153296797 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1202dup (p.Pro402fs) |
duplication |
not provided [RCV000178225] |
ChrX:154030661..154030662 [GRCh38] ChrX:153296112..153296113 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del) |
microsatellite |
Rett syndrome [RCV002472368]|Severe neonatal-onset encephalopathy with microcephaly [RCV000807467]|not provided [RCV000678239]|not specified [RCV000173210] |
ChrX:154097643..154097651 [GRCh38] ChrX:153363100..153363108 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001110792.2(MECP2):c.414-4del |
deletion |
not provided [RCV000597192] |
ChrX:154031454 [GRCh38] ChrX:153296905 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1153_1235del (p.Ser385fs) |
deletion |
Rett syndrome [RCV001292592] |
ChrX:154030629..154030711 [GRCh38] ChrX:153296080..153296162 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1146C>G (p.His382Gln) |
single nucleotide variant |
Rett syndrome [RCV001331331] |
ChrX:154030718 [GRCh38] ChrX:153296169 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.311del (p.Gly104fs) |
deletion |
not provided [RCV000144752] |
ChrX:154032309 [GRCh38] ChrX:153297760 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.843_855dup (p.Ser286fs) |
duplication |
not provided [RCV000144753] |
ChrX:154031008..154031009 [GRCh38] ChrX:153296459..153296460 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1043_1133delinsCTGTAAGTGCAC (p.Leu348fs) |
indel |
not provided [RCV000144754] |
ChrX:154030731..154030821 [GRCh38] ChrX:153296182..153296272 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1122del (p.Lys375fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002514779]|not provided [RCV000144755] |
ChrX:154030742 [GRCh38] ChrX:153296193 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1121_1222delinsAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGC (p.Pro374fs) |
indel |
not provided [RCV000144756] |
ChrX:154030642..154030743 [GRCh38] ChrX:153296093..153296194 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1134CCA[1] (p.His383_His384del) |
microsatellite |
Rett syndrome [RCV000590905]|not provided [RCV001704062] |
ChrX:154030722..154030727 [GRCh38] ChrX:153296173..153296178 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) |
deletion |
Rett syndrome [RCV000590874]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV003126509]|not provided [RCV000144758] |
ChrX:154030630..154030699 [GRCh38] ChrX:153296081..153296150 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|benign|uncertain significance |
NM_001110792.2(MECP2):c.1181_1207del (p.Leu394_Pro402del) |
deletion |
Rett syndrome [RCV001507059]|not provided [RCV000144759] |
ChrX:154030657..154030683 [GRCh38] ChrX:153296108..153296134 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1197_1302del (p.Pro400fs) |
deletion |
not provided [RCV000144760] |
ChrX:154030562..154030667 [GRCh38] ChrX:153296013..153296118 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1326dup (p.Lys443fs) |
duplication |
not provided [RCV000144761] |
ChrX:154030537..154030538 [GRCh38] ChrX:153295988..153295989 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.62+5380C>T |
single nucleotide variant |
Rett syndrome [RCV000132823] |
ChrX:154092224 [GRCh38] ChrX:153357682 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1086C>T (p.Ser362=) |
single nucleotide variant |
Inborn genetic diseases [RCV002388524]|Severe neonatal-onset encephalopathy with microcephaly [RCV001493898]|not provided [RCV003438834] |
ChrX:154030778 [GRCh38] ChrX:153296229 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.786_810dup (p.Ala271delinsProArgGlnGluAlaLysSerTer) |
duplication |
Rett syndrome [RCV000488216] |
ChrX:154031053..154031054 [GRCh38] ChrX:153296504..153296505 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.933_968del (p.Leu313_Val324del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001303608] |
ChrX:154030896..154030931 [GRCh38] ChrX:153296347..153296382 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 |
copy number loss |
See cases [RCV000133818] |
ChrX:139333024..155978689 [GRCh38] ChrX:138415183..155208354 [GRCh37] ChrX:138242849..154861548 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 |
copy number loss |
See cases [RCV000133792] |
ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_004992.3(MECP2):c.911A>C (p.Lys304Thr) |
single nucleotide variant |
not provided [RCV000144770] |
ChrX:154030917 [GRCh38] ChrX:153296368 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) |
single nucleotide variant |
Rett syndrome [RCV001800461]|not provided [RCV000144771] |
ChrX:154030822 [GRCh38] ChrX:153296273 [GRCh37] ChrX:Xq28 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.1121C>T (p.Pro374Leu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001307174] |
ChrX:154030743 [GRCh38] ChrX:153296194 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1168G>T (p.Ala390Ser) |
single nucleotide variant |
Rett syndrome [RCV003235061]|Severe neonatal-onset encephalopathy with microcephaly [RCV001363572]|not provided [RCV001719912] |
ChrX:154030696 [GRCh38] ChrX:153296147 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.1190C>A (p.Pro397His) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000465490]|not specified [RCV000193703] |
ChrX:154030674 [GRCh38] ChrX:153296125 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002354331]|Rett syndrome [RCV000172866]|Severe neonatal-onset encephalopathy with microcephaly [RCV000524942]|not provided [RCV001719913] |
ChrX:154030666 [GRCh38] ChrX:153296117 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1244C>T (p.Pro415Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002345451]|Rett syndrome [RCV003235062]|Severe neonatal-onset encephalopathy with microcephaly [RCV001340957]|not provided [RCV000144776] |
ChrX:154030620 [GRCh38] ChrX:153296071 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002415628]|Rett syndrome [RCV002260619]|Severe neonatal-onset encephalopathy with microcephaly [RCV000766081]|Severe neonatal-onset encephalopathy with microcephaly [RCV001088911]|not provided [RCV000456515]|not specified [RCV000168707] |
ChrX:154030573 [GRCh38] ChrX:153296024 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004992.3(MECP2):c.1420C>T (p.Pro474Ser) |
single nucleotide variant |
not provided [RCV000144778] |
ChrX:154030408 [GRCh38] ChrX:153295859 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003162601]|Rett syndrome [RCV002260620]|Severe neonatal-onset encephalopathy with microcephaly [RCV000766080]|Severe neonatal-onset encephalopathy with microcephaly [RCV001048888]|not provided [RCV000767162]|not specified [RCV000170088] |
ChrX:154030395 [GRCh38] ChrX:153295846 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.1(MECP2):c.-28_-27delGAinsTT |
indel |
not provided [RCV000144798] |
ChrX:154097692..154097693 [GRCh38] ChrX:153363149..153363150 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.-31AG[2] |
microsatellite |
Rett syndrome [RCV002260622]|Severe neonatal-onset encephalopathy with microcephaly [RCV001522613]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170283]|not specified [RCV000144799] |
ChrX:154097691..154097692 [GRCh38] ChrX:153363148..153363149 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del) |
microsatellite |
Rett syndrome [RCV002260623]|Severe neonatal-onset encephalopathy with microcephaly [RCV000701456]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170277]|not specified [RCV000144800] |
ChrX:154097643..154097648 [GRCh38] ChrX:153363100..153363105 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.1(MECP2):c.23_24insCGCCGC (p.Ala8_Pro9insAlaAla) |
insertion |
not provided [RCV000144801] |
ChrX:154097642..154097643 [GRCh38] ChrX:153363099..153363100 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Rett syndrome [RCV000170280]|not provided [RCV000144804] |
ChrX:154097665 [GRCh38] ChrX:153363122 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.57G>C (p.Glu19Asp) |
single nucleotide variant |
not provided [RCV000144805] |
ChrX:154097609 [GRCh38] ChrX:153363066 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.172G>A (p.Val58Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002514780]|Severe neonatal-onset encephalopathy with microcephaly [RCV002055865]|not provided [RCV000144806] |
ChrX:154032448 [GRCh38] ChrX:153297899 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001110792.2(MECP2):c.359T>C (p.Leu120Pro) |
single nucleotide variant |
Rett syndrome [RCV003223521] |
ChrX:154032261 [GRCh38] ChrX:153297712 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.589G>A (p.Gly197Ser) |
single nucleotide variant |
not provided [RCV000144808] |
ChrX:154031275 [GRCh38] ChrX:153296726 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.592A>T (p.Arg198Ter) |
single nucleotide variant |
not provided [RCV000144809] |
ChrX:154031272 [GRCh38] ChrX:153296723 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys) |
single nucleotide variant |
Rett syndrome [RCV000680040]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645120]|not provided [RCV000144810] |
ChrX:154031260 [GRCh38] ChrX:153296711 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002055866]|Severe neonatal-onset encephalopathy with microcephaly [RCV003227673]|not specified [RCV000144811] |
ChrX:154031223 [GRCh38] ChrX:153296674 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000718449]|Rett syndrome [RCV002472364]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514781]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002265623]|not provided [RCV000726052] |
ChrX:154031137 [GRCh38] ChrX:153296588 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002362777]|Rett syndrome [RCV002472365]|Severe neonatal-onset encephalopathy with microcephaly [RCV001079662]|not provided [RCV000723954] |
ChrX:154031127 [GRCh38] ChrX:153296578 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.915C>G (p.Ile305Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002444598]|Microcephaly [RCV001090171]|Rett syndrome [RCV001800462]|Severe neonatal-onset encephalopathy with microcephaly [RCV001498800]|not provided [RCV000144814] |
ChrX:154030949 [GRCh38] ChrX:153296400 [GRCh37] ChrX:Xq28 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004992.4(MECP2):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Rett syndrome [RCV000172861] |
ChrX:154092209 [GRCh38] ChrX:153357667 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1199_1319delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro400_Gly440delinsGlnTer) |
indel |
Rett syndrome [RCV000172864] |
ChrX:154030545..154030665 [GRCh38] ChrX:153295996..153296116 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.414-42A>G |
single nucleotide variant |
Rett syndrome [RCV000172867] |
ChrX:154031492 [GRCh38] ChrX:153296943 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1182_*452del (p.Leu394_Ter499delinsXaa) |
deletion |
Rett syndrome [RCV000172868] |
ChrX:154029915..154030682 [GRCh38] ChrX:153295366..153296133 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.685C>T (p.Pro229Ser) |
single nucleotide variant |
Rett syndrome [RCV000172869]|not provided [RCV003457648] |
ChrX:154031179 [GRCh38] ChrX:153296630 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.426del (p.Ala143fs) |
deletion |
Rett syndrome [RCV000172870] |
ChrX:154031438 [GRCh38] ChrX:153296889 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 |
copy number gain |
See cases [RCV000133725] |
ChrX:144627217..155434735 [GRCh38] ChrX:146715565..154664396 [GRCh37] ChrX:143516380..154317590 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 |
copy number gain |
See cases [RCV000133744] |
ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) |
single nucleotide variant |
Rett syndrome [RCV002472366]|Severe neonatal-onset encephalopathy with microcephaly [RCV001432219]|not provided [RCV000724672]|not specified [RCV000193184] |
ChrX:154030768 [GRCh38] ChrX:153296219 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.1238G>C (p.Ser413Thr) |
single nucleotide variant |
not specified [RCV000146350] |
ChrX:154030626 [GRCh38] ChrX:153296077 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) |
microsatellite |
Inborn genetic diseases [RCV002312644]|Rett syndrome [RCV002472367]|Severe neonatal-onset encephalopathy with microcephaly [RCV000548811]|not provided [RCV001705949]|not specified [RCV000168678] |
ChrX:154097618..154097619 [GRCh38] ChrX:153363075..153363076 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_001110792.2(MECP2):c.542A>G (p.Glu181Gly) |
single nucleotide variant |
Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome [RCV000146355] |
ChrX:154031322 [GRCh38] ChrX:153296773 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.852G>A (p.Pro284=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002055904]|not specified [RCV000146360] |
ChrX:154031012 [GRCh38] ChrX:153296463 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 |
copy number gain |
See cases [RCV000134564] |
ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 |
copy number loss |
See cases [RCV000134570] |
ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 |
copy number loss |
See cases [RCV000133947] |
ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 |
copy number gain |
See cases [RCV000134025] |
ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 |
copy number loss |
See cases [RCV000135300] |
ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 |
copy number loss |
See cases [RCV000135321] |
ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 |
copy number loss |
See cases [RCV000135307] |
ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:154022066-154065465)x1 |
copy number loss |
See cases [RCV000135407] |
ChrX:154022066..154065465 [GRCh38] ChrX:152940711..152984110 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:154022039-154312841)x2 |
copy number gain |
See cases [RCV000134819] |
ChrX:154022039..154312841 [GRCh38] ChrX:153333946..153541192 [GRCh37] ChrX:152940684..153194386 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 |
copy number loss |
See cases [RCV000134958] |
ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 |
copy number loss |
See cases [RCV000134947] |
ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153855152-154092314)x2 |
copy number gain |
See cases [RCV000135840] |
ChrX:153855152..154092314 [GRCh38] ChrX:152773801..153010966 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 |
copy number gain |
See cases [RCV000135451] |
ChrX:153296806..154604471 [GRCh38] ChrX:152568327..153832724 [GRCh37] ChrX:152215458..153485918 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 |
copy number loss |
See cases [RCV000135552] |
ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 |
copy number loss |
See cases [RCV000135454] |
ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 |
copy number loss |
See cases [RCV000136478] |
ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 |
copy number gain |
See cases [RCV000136552] |
ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 |
copy number gain |
See cases [RCV000136030] |
ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 |
copy number loss |
See cases [RCV000136005] |
ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 |
copy number loss |
See cases [RCV000136095] |
ChrX:128473235..156003229 [GRCh38] ChrX:127607213..155232894 [GRCh37] ChrX:127434894..154886088 [NCBI36] ChrX:Xq25-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 |
copy number gain |
See cases [RCV000135881] |
ChrX:140783390..155611114 [GRCh38] ChrX:139865555..154785891 [GRCh37] ChrX:139693221..154493969 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 |
copy number loss |
See cases [RCV000136083] |
ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 |
copy number loss |
See cases [RCV000136912] |
ChrX:141650284..156022206 [GRCh38] ChrX:140738414..155251871 [GRCh37] ChrX:140566080..154905065 [NCBI36] ChrX:Xq27.2-28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 |
copy number loss |
See cases [RCV000137113] |
ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 |
copy number gain |
See cases [RCV000136841] |
ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:154022066-154044684)x1 |
copy number loss |
See cases [RCV000136627] |
ChrX:154022066..154044684 [GRCh38] ChrX:152940711..152963329 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 |
copy number gain |
See cases [RCV000136716] |
ChrX:153322656..155522304 [GRCh38] ChrX:152864376..154751965 [GRCh37] ChrX:152241308..154405159 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 |
copy number gain |
See cases [RCV000136791] |
ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 |
copy number loss |
See cases [RCV000136718] |
ChrX:151750863..155522304 [GRCh38] ChrX:150919335..154751965 [GRCh37] ChrX:150669991..154405159 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 |
copy number gain |
See cases [RCV000137498] |
ChrX:153276277..156003242 [GRCh38] ChrX:152465185..155232907 [GRCh37] ChrX:152118379..154886101 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 |
copy number gain |
See cases [RCV000137536] |
ChrX:153667032..154394658 [GRCh38] ChrX:152585681..153276194 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 |
copy number loss |
See cases [RCV000137415] |
ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 |
copy number gain |
See cases [RCV000137553] |
ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 |
copy number loss |
See cases [RCV000137138] |
ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153813894-154140759)x2 |
copy number gain |
See cases [RCV000137153] |
ChrX:153813894..154140759 [GRCh38] ChrX:152732543..153059427 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 |
copy number loss |
See cases [RCV000137257] |
ChrX:137118983..156003242 [GRCh38] ChrX:136201142..155232907 [GRCh37] ChrX:136028808..154886101 [NCBI36] ChrX:Xq26.3-28 |
pathogenic|uncertain significance |
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 |
copy number loss |
See cases [RCV000137167] |
ChrX:123793526..156022206 [GRCh38] ChrX:122927376..155251871 [GRCh37] ChrX:122755057..154905065 [NCBI36] ChrX:Xq25-28 |
pathogenic|uncertain significance |
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 |
copy number gain |
See cases [RCV000138020] |
ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 |
copy number loss |
See cases [RCV000137887] |
ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 |
copy number loss |
See cases [RCV000138679] |
ChrX:143553831..156003229 [GRCh38] ChrX:142641674..155232894 [GRCh37] ChrX:142469340..154886088 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 |
copy number loss |
See cases [RCV000138787] |
ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 |
copy number gain |
See cases [RCV000138393] |
ChrX:153727116..154555423 [GRCh38] ChrX:153333946..153783638 [GRCh37] ChrX:152645765..153436832 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 |
copy number loss |
See cases [RCV000138541] |
ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 |
copy number loss |
See cases [RCV000139278] |
ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 |
copy number loss |
See cases [RCV000139400] |
ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 |
copy number loss |
See cases [RCV000139351] |
ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28 |
pathogenic|likely benign |
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 |
copy number gain |
See cases [RCV000139416] |
ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 |
copy number gain |
See cases [RCV000139888] |
ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153813894-154383071)x2 |
copy number gain |
See cases [RCV000140524] |
ChrX:153813894..154383071 [GRCh38] ChrX:153079349..153611431 [GRCh37] ChrX:152732543..153264625 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 |
copy number gain |
See cases [RCV000140532] |
ChrX:153451351..154230630 [GRCh38] ChrX:152716809..153496099 [GRCh37] ChrX:152370003..153149293 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153802827-154294817)x2 |
copy number gain |
See cases [RCV000140537] |
ChrX:153802827..154294817 [GRCh38] ChrX:153068282..153523170 [GRCh37] ChrX:152721476..153176364 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 |
copy number loss |
See cases [RCV000139724] |
ChrX:139530928..156003229 [GRCh38] ChrX:138613087..155232894 [GRCh37] ChrX:138440753..154886088 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 |
copy number gain |
See cases [RCV000141400] |
ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:154017291-154394658)x3 |
copy number gain |
See cases [RCV000141234] |
ChrX:154017291..154394658 [GRCh38] ChrX:153333946..153623000 [GRCh37] ChrX:152935936..153276194 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 |
copy number gain |
See cases [RCV000141401] |
ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 |
copy number gain |
See cases [RCV000140786] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 |
copy number loss |
See cases [RCV000140787] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 |
copy number loss |
See cases [RCV000141825] |
ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 |
copy number loss |
See cases [RCV000142016] |
ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 |
copy number loss |
See cases [RCV000141743] |
ChrX:119297670..156004066 [GRCh38] ChrX:118431633..155233731 [GRCh37] ChrX:118315661..154886925 [NCBI36] ChrX:Xq24-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 |
copy number loss |
See cases [RCV000142337] |
ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 |
copy number loss |
See cases [RCV000142137] |
ChrX:118856574..156004066 [GRCh38] ChrX:117990537..155233731 [GRCh37] ChrX:117874565..154886925 [NCBI36] ChrX:Xq24-28 |
pathogenic |
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 |
copy number loss |
See cases [RCV000142037] |
ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 |
copy number loss |
See cases [RCV000142190] |
ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153861449-154140759)x2 |
copy number gain |
See cases [RCV000143114] |
ChrX:153861449..154140759 [GRCh38] ChrX:152780098..153059427 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:154085063-154140759)x3 |
copy number gain |
See cases [RCV000143050] |
ChrX:154085063..154140759 [GRCh38] ChrX:153350516..153406233 [GRCh37] ChrX:153003710..153059427 [NCBI36] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xq28(chrX:154024864-154029207)x1 |
copy number loss |
See cases [RCV000142850] |
ChrX:154024864..154029207 [GRCh38] ChrX:152943509..152947852 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 |
copy number gain |
See cases [RCV000143002] |
ChrX:148951460..155434653 [GRCh38] ChrX:148956425..154664314 [GRCh37] ChrX:147840690..154317508 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 |
copy number loss |
See cases [RCV000142577] |
ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 |
copy number gain |
See cases [RCV000142625] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 |
copy number loss |
See cases [RCV000143424] |
ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 |
copy number loss |
See cases [RCV000143349] |
ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 |
copy number loss |
See cases [RCV000143441] |
ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 |
copy number gain |
See cases [RCV000143433] |
ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 |
copy number gain |
See cases [RCV000143219] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:154030850-154034917)x1 |
copy number loss |
See cases [RCV000143274] |
ChrX:154030850..154034917 [GRCh38] ChrX:152949495..152953562 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 |
copy number loss |
See cases [RCV000143132] |
ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:154004083-154055920)x1 |
copy number loss |
See cases [RCV000143726] |
ChrX:154004083..154055920 [GRCh38] ChrX:153269534..153321371 [GRCh37] ChrX:152922728..152974565 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000148141] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000148135] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.520A>G (p.Arg174Gly) |
single nucleotide variant |
Rett syndrome [RCV000157062] |
ChrX:154031344 [GRCh38] ChrX:153296795 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.1410_1411delCA (p.Asn470Lysfs) |
deletion |
Rett syndrome [RCV000168708]|Rett's disorder [RCV000168708] |
ChrX:154030417..154030418 [GRCh38] ChrX:153295868..153295869 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.1(MECP2):c.1289_1492del204 (p.Met430_Val497del) |
deletion |
Rett syndrome [RCV000168706]|Rett's disorder [RCV000168706] |
ChrX:154030372..154030575 [GRCh38] ChrX:153295823..153296026 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.1(MECP2):c.863_*44del679 |
deletion |
Rett syndrome [RCV000168711]|Rett's disorder [RCV000168711] |
ChrX:154030323..154031001 [GRCh38] ChrX:153295774..153296452 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_004992.3(MECP2):c.(?_1169)_*(1_?)del |
deletion |
Rett syndrome [RCV000170104] |
ChrX:154030366..154030659 [GRCh38] ChrX:153295817..153296110 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1048_1229del (p.Thr350fs) |
deletion |
Rett syndrome [RCV000170114] |
ChrX:154030635..154030816 [GRCh38] ChrX:153296086..153296267 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.1048_1238del (p.Thr350fs) |
deletion |
Rett syndrome [RCV000170115] |
ChrX:154030626..154030816 [GRCh38] ChrX:153296077..153296267 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.(?_1017)_(1397_?)del |
deletion |
Rett syndrome [RCV000170116] |
ChrX:154030431..154030811 [GRCh38] ChrX:153295882..153296262 [GRCh37] ChrX:Xq28 |
pathogenic |
nsv1197494 |
deletion |
Rett syndrome [RCV000170117] |
ChrX:154015897..154030807 [GRCh38] ChrX:153281346..153296256 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1064_1194del (p.Gly355fs) |
deletion |
Rett syndrome [RCV000170118] |
ChrX:154030670..154030800 [GRCh38] ChrX:153296121..153296251 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1066_1231delinsGT (p.Arg356fs) |
indel |
Rett syndrome [RCV000170119] |
ChrX:154030633..154030798 [GRCh38] ChrX:153296084..153296249 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.1075_1231delinsGT (p.Lys359fs) |
indel |
Rett syndrome [RCV000170120] |
ChrX:154030633..154030789 [GRCh38] ChrX:153296084..153296240 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.(?_1044)_(1442_?)del |
deletion |
Rett syndrome [RCV000170122] |
ChrX:154030386..154030784 [GRCh38] ChrX:153295837..153296235 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1082_1242del (p.Ser361fs) |
deletion |
Rett syndrome [RCV000170123] |
ChrX:154030622..154030782 [GRCh38] ChrX:153296073..153296233 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1084_1235del (p.Ser362fs) |
deletion |
Rett syndrome [RCV000170124] |
ChrX:154030629..154030780 [GRCh38] ChrX:153296080..153296231 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1088_1236del (p.Pro363fs) |
deletion |
Rett syndrome [RCV000170125] |
ChrX:154030628..154030776 [GRCh38] ChrX:153296079..153296227 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.1093_1255del (p.Gly365fs) |
deletion |
Rett syndrome [RCV000170126] |
ChrX:154030609..154030771 [GRCh38] ChrX:153296060..153296222 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1114_*2524del (p.Ser372fs) |
deletion |
Rett syndrome [RCV000170127] |
ChrX:154027843..154030750 [GRCh38] ChrX:153293294..153296201 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1132_1237del (p.His378fs) |
deletion |
Rett syndrome [RCV000170128] |
ChrX:154030627..154030732 [GRCh38] ChrX:153296078..153296183 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1133_*13del (p.His378_Ter499delinsXaa) |
deletion |
Rett syndrome [RCV000170129] |
ChrX:154030354..154030731 [GRCh38] ChrX:153295805..153296182 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.1133_1239del (p.His378fs) |
deletion |
Rett syndrome [RCV000170130] |
ChrX:154030625..154030731 [GRCh38] ChrX:153296076..153296182 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) |
deletion |
Rett syndrome [RCV000170131]|Severe neonatal-onset encephalopathy with microcephaly [RCV000760272] |
ChrX:154030627..154030727 [GRCh38] ChrX:153296078..153296178 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.1101_(1396_?)del |
deletion |
Rett syndrome [RCV000170132] |
ChrX:154030432..154030727 [GRCh38] ChrX:153295883..153296178 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1141_1261del (p.His381fs) |
deletion |
Rett syndrome [RCV000170133] |
ChrX:154030603..154030723 [GRCh38] ChrX:153296054..153296174 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1151_1362del (p.His384fs) |
deletion |
Rett syndrome [RCV000170134] |
ChrX:154030502..154030713 [GRCh38] ChrX:153295953..153296164 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs) |
deletion |
Rett syndrome [RCV000170136] |
ChrX:154030637..154030707 [GRCh38] ChrX:153296088..153296158 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.1159_1238del (p.Ser387fs) |
deletion |
Rett syndrome [RCV000170137] |
ChrX:154030626..154030705 [GRCh38] ChrX:153296077..153296156 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1163_1215del (p.Pro388fs) |
deletion |
Rett syndrome [RCV000170138] |
ChrX:154030649..154030701 [GRCh38] ChrX:153296100..153296152 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1165_*568delinsCCGTGG (p.Lys389fs) |
indel |
Rett syndrome [RCV000170140] |
ChrX:154029799..154030699 [GRCh38] ChrX:153295250..153296150 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1168_1238del (p.Ala390fs) |
deletion |
Rett syndrome [RCV000170142]|Severe neonatal-onset encephalopathy with microcephaly [RCV001850414] |
ChrX:154030626..154030696 [GRCh38] ChrX:153296077..153296147 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1178_1263del (p.Pro393fs) |
deletion |
Rett syndrome [RCV000170143] |
ChrX:154030601..154030686 [GRCh38] ChrX:153296052..153296137 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1188_*29del (p.Pro396_Ter499delinsXaa) |
deletion |
Rett syndrome [RCV000170144] |
ChrX:154030338..154030676 [GRCh38] ChrX:153295789..153296127 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs) |
deletion |
Rett syndrome [RCV000170145] |
ChrX:154029423..154030671 [GRCh38] ChrX:153294874..153296122 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs) |
deletion |
Angelman syndrome [RCV000170146]|Atypical Rett syndrome [RCV000012605]|not provided [RCV002508196] |
ChrX:154030618..154030669 [GRCh38] ChrX:153296069..153296120 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.1195_1494del (p.Pro399_Ser498del) |
deletion |
Rett syndrome [RCV000170147] |
ChrX:154030370..154030669 [GRCh38] ChrX:153295821..153296120 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.1199_*39del (p.Pro400fs) |
deletion |
Rett syndrome [RCV000170148] |
ChrX:154030328..154030665 [GRCh38] ChrX:153295779..153296116 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1200_1230del (p.Pro403fs) |
deletion |
Rett syndrome [RCV000170151] |
ChrX:154030634..154030664 [GRCh38] ChrX:153296085..153296115 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.(?_1169)_(1397_?)del |
deletion |
Rett syndrome [RCV000170152] |
ChrX:154030431..154030659 [GRCh38] ChrX:153295882..153296110 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1216_1217insT (p.Glu406fs) |
insertion |
Rett syndrome [RCV000170153] |
ChrX:154030647..154030648 [GRCh38] ChrX:153296098..153296099 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1232_1302del (p.Pro411fs) |
deletion |
Rett syndrome [RCV000170154] |
ChrX:154030562..154030632 [GRCh38] ChrX:153296013..153296083 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_004992.3(MECP2):c.(?_1336)_*(1_?)del |
deletion |
Rett syndrome [RCV000170157] |
ChrX:154030366..154030492 [GRCh38] ChrX:153295817..153295943 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1444_1447delinsTG (p.Asn482fs) |
indel |
Rett syndrome [RCV000170159] |
ChrX:154030417..154030420 [GRCh38] ChrX:153295868..153295871 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NM_004992.3:c.(?_184)_(1065_?)del |
deletion |
Rett syndrome [RCV000170160] |
ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.(?_-226)_(*1_?)del |
deletion |
Rett syndrome [RCV000170161] |
|
pathogenic |
NM_004992.3(MECP2):c.(?_-226)_26+?del |
deletion |
Rett syndrome [RCV000170162] |
ChrX:153357642..153363188 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.(?_248)_(320_?)del |
deletion |
Rett syndrome [RCV000170163] |
ChrX:154032264..154032336 [GRCh38] ChrX:153297715..153297787 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.11:g.154016489_154067020delinsTTTCCGACAAAGGT |
indel |
Rett syndrome [RCV000170165] |
ChrX:154016489..154067020 [GRCh38] ChrX:153281940..153332471 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3:c.(?_27)_(378_1461)del |
deletion |
Rett syndrome [RCV000170167] |
ChrX:Xq28 |
pathogenic |
NM_004992.3:c.(?_27)_(*1_?)del |
deletion |
Rett syndrome [RCV000170168] |
ChrX:Xq28 |
pathogenic |
NM_004992.3:c.(?_27)_(*8554_?)del |
deletion |
Rett syndrome [RCV000170169] |
ChrX:Xq28 |
pathogenic |
NM_004992.3:c.(?_27)_(1018_?)del |
deletion |
Rett syndrome [RCV000170170] |
ChrX:Xq28 |
pathogenic |
NM_004992.3:c.(?_27)_(1021_?)del |
deletion |
Rett syndrome [RCV000170171] |
ChrX:Xq28 |
pathogenic |
NM_004992.3:c.(?_27)_(1029_?)del |
deletion |
Rett syndrome [RCV000170172] |
ChrX:Xq28 |
pathogenic |
NM_004992.3:c.(?_27)_(1170_?)del |
deletion |
Rett syndrome [RCV000170173] |
ChrX:Xq28 |
pathogenic |
NM_004992.3:c.(?_27)_(1185_?)del |
deletion |
Rett syndrome [RCV000170174] |
ChrX:Xq28 |
pathogenic |
NM_004992.3:c.(?_27)_(1337_?)del |
deletion |
Rett syndrome [RCV000170175] |
ChrX:Xq28 |
pathogenic |
NM_004992.3:c.(?_27)_(1397_?)del |
deletion |
Rett syndrome [RCV000170176] |
ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.(?_27)_(367_?)del |
deletion |
Rett syndrome [RCV000170177] |
ChrX:154032217..154032557 [GRCh38] ChrX:153297668..153298008 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3:c.(?_27)_(378_?)del |
deletion |
Rett syndrome [RCV000170178] |
ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.27-12521_*5072del |
deletion |
Rett syndrome [RCV000170179] |
ChrX:154025295..154045078 [GRCh38] ChrX:153290746..153310529 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.63-3928_1220del |
deletion |
Rett syndrome [RCV000170181] |
ChrX:154030644..154036485 [GRCh38] ChrX:153296095..153301936 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.27-4722_*112delinsCACTTTGTG |
indel |
Rett syndrome [RCV000170182] |
ChrX:154030255..154037279 [GRCh38] ChrX:153295706..153302730 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.27-4722_*739delins43 |
indel |
Rett syndrome [RCV000170183] |
ChrX:154029628..154037279 [GRCh38] ChrX:153295079..153302730 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.27-5774_902delinsGTGCCCGGACTGATGTCA |
indel |
Rett syndrome [RCV000170184] |
ChrX:154030926..154038331 [GRCh38] ChrX:153296377..153303782 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.27-6026_1190delinsGT |
indel |
Rett syndrome [RCV000170185] |
ChrX:154030638..154038583 [GRCh38] ChrX:153296089..153304034 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.63-6214_1227del |
deletion |
Rett syndrome [RCV000170186] |
ChrX:154030637..154038771 [GRCh38] ChrX:153296088..153304222 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.63-94_1243del |
deletion |
Rett syndrome [RCV000170188] |
ChrX:154030621..154032651 [GRCh38] ChrX:153296072..153298102 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.354_357dup (p.Leu120fs) |
duplication |
Rett syndrome [RCV000170189] |
ChrX:154032262..154032263 [GRCh38] ChrX:153297713..153297714 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3:c.343_1182del |
deletion |
Rett syndrome [RCV000170190] |
ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.(?_378)_*(1_?)del |
deletion |
Rett syndrome [RCV000170193] |
ChrX:154030366..154031450 [GRCh38] ChrX:153295817..153296901 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.(?_378)_(1170_?)del |
deletion |
Rett syndrome [RCV000170194] |
ChrX:154030658..154031450 [GRCh38] ChrX:153296109..153296901 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.(?_378)_(1185_?)del |
deletion |
Rett syndrome [RCV000170195] |
ChrX:154030643..154031450 [GRCh38] ChrX:153296094..153296901 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.(?_378)_(1337_?)del |
deletion |
Rett syndrome [RCV000170196] |
ChrX:154030491..154031450 [GRCh38] ChrX:153295942..153296901 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.414_1497del (p.Pro139fs) |
deletion |
Rett syndrome [RCV000170197] |
ChrX:154030367..154031450 [GRCh38] ChrX:153295818..153296901 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.418_1225del (p.Gln140fs) |
deletion |
Rett syndrome [RCV000170203] |
ChrX:154030639..154031446 [GRCh38] ChrX:153296090..153296897 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.445_1194del (p.Glu149_Leu398del) |
deletion |
Rett syndrome [RCV000170204] |
ChrX:154030670..154031419 [GRCh38] ChrX:153296121..153296870 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.481_987del507ins8 |
indel |
Rett syndrome [RCV000170205] |
ChrX:154030841..154031347 [GRCh38] ChrX:153296292..153296798 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.524_1225del (p.Gly175_Ser408del) |
deletion |
Rett syndrome [RCV000170206] |
ChrX:154030639..154031340 [GRCh38] ChrX:153296090..153296791 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.538C>A (p.Arg180=) |
single nucleotide variant |
Rett syndrome [RCV000170207] |
ChrX:154031326 [GRCh38] ChrX:153296777 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.652_1158del (p.Gly218_Glu386del) |
deletion |
Rett syndrome [RCV000170208] |
ChrX:154030706..154031212 [GRCh38] ChrX:153296157..153296663 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.747_1305del (p.Gly250fs) |
deletion |
Rett syndrome [RCV000170210] |
ChrX:154030559..154031117 [GRCh38] ChrX:153296010..153296568 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.767_1202del (p.Gln256fs) |
deletion |
Rett syndrome [RCV000170211] |
ChrX:154030662..154031097 [GRCh38] ChrX:153296113..153296548 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.802A>T (p.Lys268Ter) |
single nucleotide variant |
Rett syndrome [RCV000170214] |
ChrX:154031062 [GRCh38] ChrX:153296513 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.803_1211del (p.Lys268fs) |
deletion |
Rett syndrome [RCV000170215] |
ChrX:154030653..154031061 [GRCh38] ChrX:153296104..153296512 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.821_854del (p.Gln274fs) |
deletion |
Rett syndrome [RCV000170216] |
ChrX:154031010..154031043 [GRCh38] ChrX:153296461..153296494 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.820_1153del334ins67 (p.?) |
indel |
Rett syndrome [RCV000170218] |
ChrX:154030675..154031008 [GRCh38] ChrX:153296126..153296459 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.858_1220del (p.Val287_Ser407del) |
deletion |
Rett syndrome [RCV000170219] |
ChrX:154030644..154031006 [GRCh38] ChrX:153296095..153296457 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_004992.3(MECP2):c.830_831ins23 (p.?) |
insertion |
Rett syndrome [RCV000170220] |
ChrX:154030997..154030998 [GRCh38] ChrX:153296448..153296449 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.885_1272del (p.Lys296fs) |
deletion |
Rett syndrome [RCV000170222] |
ChrX:154030592..154030979 [GRCh38] ChrX:153296043..153296430 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.887_1224del (p.Lys296fs) |
deletion |
Rett syndrome [RCV000170223] |
ChrX:154030640..154030977 [GRCh38] ChrX:153296091..153296428 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.891_895delinsAAAAAAAAGACT (p.Ala299fs) |
indel |
Rett syndrome [RCV000170224] |
ChrX:154030969..154030973 [GRCh38] ChrX:153296420..153296424 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.903_1259delinsA (p.Ser303fs) |
indel |
Rett syndrome [RCV000170225] |
ChrX:154030605..154030961 [GRCh38] ChrX:153296056..153296412 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.905_916delinsCACA (p.Glu302fs) |
indel |
Rett syndrome [RCV000170226] |
ChrX:154030948..154030959 [GRCh38] ChrX:153296399..153296410 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del) |
deletion |
Rett syndrome [RCV000170227]|Severe neonatal-onset encephalopathy with microcephaly [RCV001298644] |
ChrX:154030784..154030957 [GRCh38] ChrX:153296235..153296408 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.930_1131del (p.Glu310fs) |
deletion |
Rett syndrome [RCV000170228] |
ChrX:154030733..154030934 [GRCh38] ChrX:153296184..153296385 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.934_1135del (p.Val312fs) |
deletion |
Rett syndrome [RCV000170229] |
ChrX:154030729..154030930 [GRCh38] ChrX:153296180..153296381 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.942_1174delinsAC (p.Ile315_Val392delinsLeu) |
indel |
Rett syndrome [RCV000170230] |
ChrX:154030690..154030922 [GRCh38] ChrX:153296141..153296373 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.950_1208del (p.Lys317fs) |
deletion |
Rett syndrome [RCV000170231] |
ChrX:154030656..154030914 [GRCh38] ChrX:153296107..153296365 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.998_1303delinsG (p.Lys333fs) |
indel |
Rett syndrome [RCV000170233] |
ChrX:154030561..154030866 [GRCh38] ChrX:153296012..153296317 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.-98-?_377+?del |
deletion |
Rett syndrome [RCV000170234] |
|
pathogenic |
NM_001110792.2(MECP2):c.1030_1382del (p.Ser344fs) |
deletion |
Rett syndrome [RCV000170235] |
ChrX:154030482..154030834 [GRCh38] ChrX:153295933..153296285 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.(?_1)_26+?dup |
duplication |
Rett syndrome [RCV000170242] |
ChrX:154092184..154092209 [GRCh38] ChrX:153357642..153357667 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1066C>G (p.Arg356Gly) |
single nucleotide variant |
Rett syndrome [RCV000170243] |
ChrX:154030798 [GRCh38] ChrX:153296249 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1079_1209delinsTG (p.Glu360_Pro403delinsVal) |
indel |
Rett syndrome [RCV000170244] |
ChrX:154030655..154030785 [GRCh38] ChrX:153296106..153296236 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1097_1192del (p.Arg366_Pro397del) |
deletion |
Rett syndrome [RCV000170245] |
ChrX:154030672..154030767 [GRCh38] ChrX:153296123..153296218 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1101C>A (p.Ser367Arg) |
single nucleotide variant |
Rett syndrome [RCV000170246] |
ChrX:154030763 [GRCh38] ChrX:153296214 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1129_1131del (p.Glu377del) |
deletion |
Rett syndrome [RCV000170247] |
ChrX:154030733..154030735 [GRCh38] ChrX:153296184..153296186 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1153_1239del (p.Ser385_Ser413del) |
deletion |
Rett syndrome [RCV000170249] |
ChrX:154030625..154030711 [GRCh38] ChrX:153296076..153296162 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1159_1227del (p.Ser387_Glu409del) |
deletion |
Rett syndrome [RCV000170250] |
ChrX:154030637..154030705 [GRCh38] ChrX:153296088..153296156 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1189_1224del (p.Pro397_Ser408del) |
deletion |
Rett syndrome [RCV000170252] |
ChrX:154030640..154030675 [GRCh38] ChrX:153296091..153296126 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) |
deletion |
Rett syndrome [RCV000170253]|Severe neonatal-onset encephalopathy with microcephaly [RCV002054017]|not provided [RCV001552219] |
ChrX:154030662..154030673 [GRCh38] ChrX:153296113..153296124 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_004992.3(MECP2):c.1159_1160ins300 (p.?) |
insertion |
Rett syndrome [RCV000170254] |
ChrX:154030668..154030669 [GRCh38] ChrX:153296119..153296120 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1196_1236delinsAGGGGTGG (p.Pro399_Thr412delinsGlnGlyTrp) |
indel |
Rett syndrome [RCV000170255] |
ChrX:154030628..154030668 [GRCh38] ChrX:153296079..153296119 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1199_1252del (p.Pro400_Pro417del) |
deletion |
Rett syndrome [RCV000170258] |
ChrX:154030612..154030665 [GRCh38] ChrX:153296063..153296116 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?) |
indel |
Rett syndrome [RCV000170259] |
ChrX:154030595..154030663 [GRCh38] ChrX:153296046..153296114 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_004992.3(MECP2):c.(?_-226)_-99+?del |
deletion |
Rett syndrome [RCV000170263] |
ChrX:154097604..154097731 [GRCh38] ChrX:153363061..153363188 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?)) |
duplication |
Rett syndrome [RCV000170274] |
ChrX:154031171..154031197 [GRCh38] ChrX:153296622..153296648 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) |
single nucleotide variant |
Rett syndrome [RCV000170279]|not provided [RCV003329250] |
ChrX:154097665 [GRCh38] ChrX:153363122 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.23_27dup (p.Ser10fs) |
microsatellite |
Rett syndrome [RCV000170282] |
ChrX:154097638..154097639 [GRCh38] ChrX:153363095..153363096 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs) |
indel |
Rett syndrome [RCV000170285] |
ChrX:154097636 [GRCh38] ChrX:153363093 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup) |
microsatellite |
Rett syndrome [RCV000170286]|Severe neonatal-onset encephalopathy with microcephaly [RCV001034236]|not provided [RCV001704232]|not specified [RCV000486852] |
ChrX:154097618..154097619 [GRCh38] ChrX:153363075..153363076 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) |
deletion |
Rett syndrome [RCV000170288]|Severe neonatal-onset encephalopathy with microcephaly [RCV001245569] |
ChrX:154097609..154097619 [GRCh38] ChrX:153363066..153363076 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.48_55del (p.Glu18fs) |
deletion |
Rett syndrome [RCV000170289] |
ChrX:154097611..154097618 [GRCh38] ChrX:153363068..153363075 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.48_55dup (p.Glu19fs) |
duplication |
Rett syndrome [RCV000170290] |
ChrX:154097610..154097611 [GRCh38] ChrX:153363067..153363068 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.48C>T (p.Gly16=) |
single nucleotide variant |
Rett syndrome [RCV000170291]|not provided [RCV000519373] |
ChrX:154097618 [GRCh38] ChrX:153363075 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.59_60del (p.Arg20fs) |
microsatellite |
Rett syndrome [RCV000170293] |
ChrX:154097606..154097607 [GRCh38] ChrX:153363063..153363064 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.62+1G>A |
single nucleotide variant |
Rett syndrome [RCV000170294]|Severe neonatal-onset encephalopathy with microcephaly [RCV000558865] |
ChrX:154097603 [GRCh38] ChrX:153363060 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.62+2_62+3del |
microsatellite |
Rett syndrome [RCV000170295]|See cases [RCV002287376]|not provided [RCV001091827] |
ChrX:154097601..154097602 [GRCh38] ChrX:153363058..153363059 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.1(MECP2):c.(?_1)_(62_?)del |
deletion |
Rett syndrome [RCV000170296] |
ChrX:154097604..154097665 [GRCh38] ChrX:153363061..153363122 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1089C>G (p.Pro363=) |
single nucleotide variant |
Rett syndrome [RCV003380498]|Severe neonatal-onset encephalopathy with microcephaly [RCV001459896]|not provided [RCV001582667]|not specified [RCV000170087] |
ChrX:154030775 [GRCh38] ChrX:153296226 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.413+30G>A |
single nucleotide variant |
Rett syndrome [RCV003380499]|not specified [RCV000170090] |
ChrX:154032177 [GRCh38] ChrX:153297628 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001110792.2(MECP2):c.414-70C>G |
single nucleotide variant |
not specified [RCV000170094] |
ChrX:154031520 [GRCh38] ChrX:153296971 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.467A>G (p.Lys156Arg) |
single nucleotide variant |
Rett syndrome [RCV003380500]|not specified [RCV000170096] |
ChrX:154031397 [GRCh38] ChrX:153296848 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001110792.2(MECP2):c.663G>A (p.Val221=) |
single nucleotide variant |
Rett syndrome [RCV003380501]|not specified [RCV000170097] |
ChrX:154031201 [GRCh38] ChrX:153296652 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001110792.2(MECP2):c.868G>A (p.Ala290Thr) |
single nucleotide variant |
Rett syndrome [RCV000445578]|not specified [RCV000170098] |
ChrX:154030996 [GRCh38] ChrX:153296447 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.1077_*29del (p.Lys359_Ter499delinsXaa) |
deletion |
Rett syndrome [RCV003483554]|not provided [RCV000170121] |
ChrX:154030338..154030787 [GRCh38] ChrX:153295789..153296238 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.1164_1215del (p.Lys389fs) |
deletion |
not provided [RCV000170139] |
ChrX:154030649..154030700 [GRCh38] ChrX:153296100..153296151 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1165_1229del (p.Lys389fs) |
deletion |
Rett syndrome [RCV003483555]|not provided [RCV000170141] |
ChrX:154030635..154030699 [GRCh38] ChrX:153296086..153296150 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.1200_1220delinsCTGAGCCCCAGGACTTGAGCA (p.Pro401_Ser407delinsTer) |
indel |
Attention deficit hyperactivity disorder [RCV000170149]|Rett syndrome [RCV000170150] |
ChrX:154030644..154030664 [GRCh38] ChrX:153296095..153296115 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1307_1452del (p.Leu436fs) |
deletion |
Rett syndrome [RCV003483556]|not provided [RCV000170155] |
ChrX:154030412..154030557 [GRCh38] ChrX:153295863..153296008 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.1374_1379del (p.Ala459_Glu460del) |
deletion |
not provided [RCV000170158] |
ChrX:154030485..154030490 [GRCh38] ChrX:153295936..153295941 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.249_250ins7 |
insertion |
not provided [RCV000170164] |
ChrX:154032334..154032335 [GRCh38] ChrX:153297785..153297786 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.764_765ins8 |
insertion |
not provided [RCV000170213] |
ChrX:154031063..154031064 [GRCh38] ChrX:153296514..153296515 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.843_*125del (p.Gly281_Ter499delinsXaa) |
deletion |
not provided [RCV000170217] |
ChrX:154030242..154031021 [GRCh38] ChrX:153295693..153296472 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1151_1237del (p.His384_Ser413delinsArg) |
deletion |
not specified [RCV000170248] |
ChrX:154030627..154030713 [GRCh38] ChrX:153296078..153296164 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del) |
deletion |
Rett syndrome [RCV002472329]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170257] |
ChrX:154030428..154030667 [GRCh38] ChrX:153295879..153296118 [GRCh37] ChrX:Xq28 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs) |
deletion |
Rett syndrome [RCV003389411]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170260] |
ChrX:154030585..154030595 [GRCh38] ChrX:153296036..153296046 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_004992.3:c.(?_-226)_(*1_?)dup |
duplication |
X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170262] |
ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.413A>G (p.Asn138Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000170271] |
ChrX:154032207 [GRCh38] ChrX:153297658 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.6CGC[9] (p.Ala6_Ala8dup) |
microsatellite |
Inborn genetic diseases [RCV002390402]|Severe neonatal-onset encephalopathy with microcephaly [RCV001239514]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170276] |
ChrX:154097642..154097643 [GRCh38] ChrX:153363099..153363100 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) |
microsatellite |
Autism, susceptibility to, X-linked 3 [RCV001198685]|Inborn genetic diseases [RCV002408732]|Rett syndrome [RCV000714629]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645135]|Severe neonatal-onset encephalopathy with microcephaly [RCV003227687]|not provided [RCV000144801]|not specified [RCV000170278] |
ChrX:154097642..154097643 [GRCh38] ChrX:153363099..153363100 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.-27_-26delinsTT |
indel |
Rett syndrome [RCV003483557]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170284] |
ChrX:154097691..154097692 [GRCh38] ChrX:153363148..153363149 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.1(MECP2):c.-46_-45delGC |
microsatellite |
Rett syndrome [RCV003380502]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170287] |
ChrX:154097710..154097711 [GRCh38] ChrX:153363167..153363168 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys) |
single nucleotide variant |
Rett syndrome [RCV003483558]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170292] |
ChrX:154097617 [GRCh38] ChrX:153363074 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_004992.3(MECP2):c.-98-43_6dup |
duplication |
not specified [RCV000168677] |
ChrX:154092204..154092350 [GRCh38] ChrX:153357662..153357808 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.1(MECP2):c.559_1111del553insCG (p.Lys187Argfs) |
indel |
not specified [RCV000168683] |
ChrX:154030753..154031305 [GRCh38] ChrX:153296204..153296756 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_004992.3(MECP2):c.583G>A (p.Gly195Ser) |
single nucleotide variant |
not specified [RCV000168685] |
ChrX:154031245 [GRCh38] ChrX:153296696 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.1(MECP2):c.1023_1029delTGAGAAGins13 (p.?) |
indel |
not specified [RCV000168698] |
ChrX:154030835..154030841 [GRCh38] ChrX:153296286..153296292 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000766082]|Severe neonatal-onset encephalopathy with microcephaly [RCV001850385]|not specified [RCV000168699] |
ChrX:154030815 [GRCh38] ChrX:153296266 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004992.3(MECP2):c.1129A>G (p.Lys377Glu) |
single nucleotide variant |
not specified [RCV000168700] |
ChrX:154030699 [GRCh38] ChrX:153296150 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.1(MECP2):c.1197_1224del28 (p.Pro400Argfs) |
deletion |
not specified [RCV000168703] |
ChrX:154030640..154030667 [GRCh38] ChrX:153296091..153296118 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_004992.3(MECP2):c.1224G>C (p.Leu408Phe) |
single nucleotide variant |
not specified [RCV000168705] |
ChrX:154030604 [GRCh38] ChrX:153296055 [GRCh37] ChrX:Xq28 |
likely benign |
NM_004992.3(MECP2):c.573delC (p.Ser194Alafs) |
deletion |
Rett syndrome [RCV000168684]|Rett's disorder [RCV000168684] |
ChrX:154031255 [GRCh38] ChrX:153296706 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.1(MECP2):c.738_752delTGAGGGGGGTGGGGC (p.Glu247_Ala251del) |
deletion |
Rett syndrome [RCV000168688]|Rett's disorder [RCV000168688] |
ChrX:154031112..154031126 [GRCh38] ChrX:153296563..153296577 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.1(MECP2):c.790_818del29 (p.Gly264Serfs) |
deletion |
Rett syndrome [RCV000168690]|Rett's disorder [RCV000168690] |
ChrX:154031046..154031074 [GRCh38] ChrX:153296497..153296525 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.1(MECP2):c.853_871dup19 (p.Ala291Glyfs) |
duplication |
Rett syndrome [RCV000168693]|Rett's disorder [RCV000168693] |
ChrX:154030993..154031011 [GRCh38] ChrX:153296444..153296462 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=) |
single nucleotide variant |
Rett syndrome [RCV001800516]|not provided [RCV000416128] |
ChrX:154030664 [GRCh38] ChrX:153296115 [GRCh37] ChrX:Xq28 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.563C>A (p.Pro188His) |
single nucleotide variant |
Inborn genetic diseases [RCV002317047]|Rett syndrome [RCV002472369]|Severe neonatal-onset encephalopathy with microcephaly [RCV001472971]|not provided [RCV000678233] |
ChrX:154031301 [GRCh38] ChrX:153296752 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.287G>A (p.Arg96Gln) |
single nucleotide variant |
not provided [RCV000177221] |
ChrX:154032333 [GRCh38] ChrX:153297784 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.90C>G (p.Leu30=) |
single nucleotide variant |
Rett syndrome [RCV003235098]|Severe neonatal-onset encephalopathy with microcephaly [RCV001499199]|not provided [RCV000724858] |
ChrX:154032530 [GRCh38] ChrX:153297981 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 |
copy number gain |
See cases [RCV000240143] |
ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
NM_001110792.2(MECP2):c.701_707dup (p.Met236fs) |
duplication |
Rett syndrome [RCV000195260] |
ChrX:154031156..154031157 [GRCh38] ChrX:153296607..153296608 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.30_31del (p.Ser10fs) |
deletion |
Rett syndrome [RCV000193898] |
ChrX:154097635..154097636 [GRCh38] ChrX:153363092..153363093 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) |
single nucleotide variant |
MECP2-related condition [RCV003390928]|Rett syndrome [RCV003448285]|Severe neonatal-onset encephalopathy with microcephaly [RCV001043679]|not provided [RCV000757451]|not specified [RCV000192395] |
ChrX:154031080 [GRCh38] ChrX:153296531 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.750G>A (p.Gly250=) |
single nucleotide variant |
Rett syndrome [RCV003235115]|Severe neonatal-onset encephalopathy with microcephaly [RCV001515210]|not specified [RCV000192514] |
ChrX:154031114 [GRCh38] ChrX:153296565 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.1436C>G (p.Pro479Arg) |
single nucleotide variant |
not specified [RCV000192547] |
ChrX:154030428 [GRCh38] ChrX:153295879 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.312A>G (p.Gly104=) |
single nucleotide variant |
Inborn genetic diseases [RCV002433869]|Rett syndrome [RCV002472372]|Severe neonatal-onset encephalopathy with microcephaly [RCV001523261]|not provided [RCV000645136]|not specified [RCV000192672] |
ChrX:154032308 [GRCh38] ChrX:153297759 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.564C>T (p.Pro188=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002056995]|not specified [RCV000193432] |
ChrX:154031300 [GRCh38] ChrX:153296751 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001110792.2(MECP2):c.737C>A (p.Ala246Asp) |
single nucleotide variant |
not specified [RCV000194296] |
ChrX:154031127 [GRCh38] ChrX:153296578 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) |
single nucleotide variant |
Inborn genetic diseases [RCV002336513]|Rett syndrome [RCV002472370]|Severe neonatal-onset encephalopathy with microcephaly [RCV001088048]|not provided [RCV000659186]|not specified [RCV000193848] |
ChrX:154030640 [GRCh38] ChrX:153296091 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.252G>A (p.Pro84=) |
single nucleotide variant |
not specified [RCV000194007] |
ChrX:154032368 [GRCh38] ChrX:153297819 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002381654]|Severe neonatal-onset encephalopathy with microcephaly [RCV000538875]|not provided [RCV003129800]|not specified [RCV000194442] |
ChrX:154030500 [GRCh38] ChrX:153295951 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001110792.1:c.384_1164del |
deletion |
Rett syndrome [RCV000192570] |
ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1194_*117del (p.Pro399fs) |
deletion |
Rett syndrome [RCV000193697] |
ChrX:154030250..154030670 [GRCh38] ChrX:153295701..153296121 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.934_1202del (p.Val312fs) |
deletion |
Rett syndrome [RCV000195048] |
ChrX:154030662..154030930 [GRCh38] ChrX:153296113..153296381 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs) |
deletion |
Rett syndrome [RCV000195245]|Severe neonatal-onset encephalopathy with microcephaly [RCV003114347] |
ChrX:154030634..154030821 [GRCh38] ChrX:153296085..153296272 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1231C>T (p.Pro411Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002336514]|Rett syndrome [RCV002472371]|Severe neonatal-onset encephalopathy with microcephaly [RCV001521814]|not specified [RCV000192988] |
ChrX:154030633 [GRCh38] ChrX:153296084 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001110792.2(MECP2):c.83_93del (p.Gln28fs) |
deletion |
Rett syndrome [RCV000193568] |
ChrX:154032527..154032537 [GRCh38] ChrX:153297978..153297988 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg) |
single nucleotide variant |
Rett syndrome [RCV003238732]|not specified [RCV000194480] |
ChrX:154030591 [GRCh38] ChrX:153296042 [GRCh37] ChrX:Xq28 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.1204C>G (p.Pro402Ala) |
single nucleotide variant |
not specified [RCV000194805] |
ChrX:154030660 [GRCh38] ChrX:153296111 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 |
copy number gain |
See cases [RCV000239843] |
ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 |
copy number loss |
See cases [RCV000239832] |
ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 |
copy number gain |
See cases [RCV000239798] |
ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_004992.3(MECP2):c.1276_*113del299ins3 |
indel |
Rett syndrome [RCV000193147]|not provided [RCV000170156] |
ChrX:154030254..154030552 [GRCh38] ChrX:153295705..153296003 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs) |
deletion |
Rett syndrome [RCV000193082]|not provided [RCV000170209] |
ChrX:154031072..154031139 [GRCh38] ChrX:153296523..153296590 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?) |
indel |
Rett syndrome [RCV000192387]|not provided [RCV000170212] |
ChrX:154030445..154031065 [GRCh38] ChrX:153295896..153296516 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.870_975del (p.Ala291fs) |
deletion |
Rett syndrome [RCV000193006]|not provided [RCV000170221] |
ChrX:154030889..154030994 [GRCh38] ChrX:153296340..153296445 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.943_1140del198ins6 |
indel |
Rett syndrome [RCV000192590]|not provided [RCV000170232] |
ChrX:154030688..154030885 [GRCh38] ChrX:153296139..153296336 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153295798)_(153298028_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000546324] |
ChrX:153295798..153298028 [GRCh37] ChrX:Xq28 |
pathogenic |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000234859] |
ChrX:152730000..153020000 [NCBI36] ChrX:Xq28 |
pathogenic |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000234878] |
ChrX:139330000..154580000 [NCBI36] ChrX:Xq27.1-28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu) |
single nucleotide variant |
Rett syndrome [RCV000225456]|Severe neonatal-onset encephalopathy with microcephaly [RCV001056633] |
ChrX:154031178 [GRCh38] ChrX:153296629 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu) |
single nucleotide variant |
Rett syndrome [RCV000225601] |
ChrX:154031150 [GRCh38] ChrX:153296601 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.414-6C>G |
single nucleotide variant |
Rett syndrome [RCV000225484]|Severe neonatal-onset encephalopathy with microcephaly [RCV002055002]|not provided [RCV001711619] |
ChrX:154031456 [GRCh38] ChrX:153296907 [GRCh37] ChrX:Xq28 |
likely pathogenic|benign|likely benign |
NM_001110792.2(MECP2):c.414-20C>G |
single nucleotide variant |
Rett syndrome [RCV000225668]|Severe neonatal-onset encephalopathy with microcephaly [RCV002057231] |
ChrX:154031470 [GRCh38] ChrX:153296921 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 |
copy number gain |
See cases [RCV000240106] |
ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153047627-153555804)x2 |
copy number gain |
See cases [RCV000239929] |
ChrX:153047627..153555804 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe) |
single nucleotide variant |
Rett syndrome [RCV003448328]|Severe neonatal-onset encephalopathy with microcephaly [RCV001210472]|not provided [RCV001508974]|not specified [RCV000600874] |
ChrX:154030681 [GRCh38] ChrX:153296132 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.648dup (p.Glu217fs) |
duplication |
Inborn genetic diseases [RCV000623038] |
ChrX:154031215..154031216 [GRCh38] ChrX:153296666..153296667 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 |
copy number loss |
See cases [RCV000446026] |
ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.1219A>G (p.Ser407Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001352373]|not provided [RCV000999553] |
ChrX:154030645 [GRCh38] ChrX:153296096 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 |
copy number gain |
See cases [RCV000239934] |
ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152993910-153555804)x2 |
copy number gain |
See cases [RCV000240396] |
ChrX:152993910..153555804 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 |
copy number gain |
See cases [RCV000240552] |
ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 |
copy number gain |
See cases [RCV000240464] |
ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 |
copy number gain |
See cases [RCV000240314] |
ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.90C>A (p.Leu30=) |
single nucleotide variant |
not specified [RCV000246535] |
ChrX:154032530 [GRCh38] ChrX:153297981 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 |
copy number gain |
See cases [RCV000240530] |
ChrX:142174780..155250222 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 |
copy number gain |
See cases [RCV000240148] |
ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 |
copy number loss |
See cases [RCV000240337] |
ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.1085G>A (p.Ser362Asn) |
single nucleotide variant |
not provided [RCV000522036] |
ChrX:154030779 [GRCh38] ChrX:153296230 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) |
duplication |
Inborn genetic diseases [RCV002429211]|Seizure [RCV002274968]|Severe neonatal-onset encephalopathy with microcephaly [RCV001207928]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002470836]|not provided [RCV000284365] |
ChrX:154030741..154030742 [GRCh38] ChrX:153296192..153296193 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.361A>G (p.Lys121Glu) |
single nucleotide variant |
not provided [RCV000314570] |
ChrX:154032259 [GRCh38] ChrX:153297710 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV000623358]|Severe neonatal-onset encephalopathy with microcephaly [RCV000816982]|not provided [RCV000352165]|not specified [RCV001251381] |
ChrX:154030381 [GRCh38] ChrX:153295832 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1410C>T (p.Arg470=) |
single nucleotide variant |
Rett syndrome [RCV003235181]|Severe neonatal-onset encephalopathy with microcephaly [RCV001517504]|not provided [RCV000393143] |
ChrX:154030454 [GRCh38] ChrX:153295905 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.1033G>A (p.Gly345Arg) |
single nucleotide variant |
not provided [RCV003221705] |
ChrX:154030831 [GRCh38] ChrX:153296282 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1243C>G (p.Pro415Ala) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001204345]|not provided [RCV000487852] |
ChrX:154030621 [GRCh38] ChrX:153296072 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.105C>G (p.Asp35Glu) |
single nucleotide variant |
not provided [RCV003314837] |
ChrX:154032515 [GRCh38] ChrX:153297966 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1081_1131del (p.Ser361_Glu377del) |
deletion |
not provided [RCV003321234] |
ChrX:154030733..154030783 [GRCh38] ChrX:153296184..153296234 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1149_1237del (p.His383fs) |
deletion |
Rett syndrome [RCV003315116] |
ChrX:154030627..154030715 [GRCh38] ChrX:153296078..153296166 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1207C>G (p.Pro403Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003372730]|not specified [RCV000490157] |
ChrX:154030657 [GRCh38] ChrX:153296108 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.-29A>T |
single nucleotide variant |
not provided [RCV000521708] |
ChrX:154097694 [GRCh38] ChrX:153363151 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.697C>G (p.Leu233Val) |
single nucleotide variant |
not specified [RCV000605015] |
ChrX:154031167 [GRCh38] ChrX:153296618 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.656T>C (p.Val219Ala) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002522026]|not provided [RCV000361062] |
ChrX:154031208 [GRCh38] ChrX:153296659 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1123_1124insC (p.Lys375fs) |
insertion |
Rett syndrome [RCV000585814] |
ChrX:154030740..154030741 [GRCh38] ChrX:153296191..153296192 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1017C>T (p.Thr339=) |
single nucleotide variant |
not specified [RCV000587369] |
ChrX:154030847 [GRCh38] ChrX:153296298 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.991G>A (p.Val331Met) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000768019] |
ChrX:154030873 [GRCh38] ChrX:153296324 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1386C>G (p.Tyr462Ter) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000585834] |
ChrX:154030478 [GRCh38] ChrX:153295929 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.271G>T (p.Ala91Ser) |
single nucleotide variant |
not provided [RCV000587702] |
ChrX:154032349 [GRCh38] ChrX:153297800 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.523G>T (p.Gly175Trp) |
single nucleotide variant |
not provided [RCV000592531] |
ChrX:154031341 [GRCh38] ChrX:153296792 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.62+2T>G |
single nucleotide variant |
Rett syndrome [RCV001507030]|not provided [RCV000598684] |
ChrX:154097602 [GRCh38] ChrX:153363059 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.377_385del (p.Gly126_Ser128del) |
deletion |
Rett syndrome [RCV000655939] |
ChrX:154032235..154032243 [GRCh38] ChrX:153297686..153297694 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1155dup (p.Glu386fs) |
duplication |
not provided [RCV000598988] |
ChrX:154030708..154030709 [GRCh38] ChrX:153296159..153296160 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.423A>G (p.Gly141=) |
single nucleotide variant |
not provided [RCV000585076] |
ChrX:154031441 [GRCh38] ChrX:153296892 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.13G>A (p.Ala5Thr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001860137]|not provided [RCV000586039] |
ChrX:154097653 [GRCh38] ChrX:153363110 [GRCh37] ChrX:Xq28 |
uncertain significance |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_001110792.2(MECP2):c.1195delinsAGCCCACCTCCCA (p.Pro399delinsSerProProProThr) |
indel |
not provided [RCV000589076] |
ChrX:154030669 [GRCh38] ChrX:153296120 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_004992.3(MECP2):c.1009_1294del286ins41 (p.?) |
indel |
not provided [RCV000599338] |
ChrX:154030534..154030819 [GRCh38] ChrX:153295985..153296270 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp) |
single nucleotide variant |
Rett syndrome [RCV001175142]|not provided [RCV000589763] |
ChrX:154031112 [GRCh38] ChrX:153296563 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.528C>T (p.Ser176=) |
single nucleotide variant |
not specified [RCV000590017] |
ChrX:154031336 [GRCh38] ChrX:153296787 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.959C>G (p.Thr320Ser) |
single nucleotide variant |
not provided [RCV000590302] |
ChrX:154030905 [GRCh38] ChrX:153296356 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.414-10G>T |
single nucleotide variant |
not provided [RCV000596908] |
ChrX:154031460 [GRCh38] ChrX:153296911 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.1(MECP2):c.47_48insAGG (p.Gly16_Glu17insGly) |
insertion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000626137] |
ChrX:154097618..154097619 [GRCh38] ChrX:153363075..153363076 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.731G>A (p.Gly244Asp) |
single nucleotide variant |
not specified [RCV000414520] |
ChrX:154031133 [GRCh38] ChrX:153296584 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1282G>T (p.Glu428Ter) |
single nucleotide variant |
not provided [RCV000415905] |
ChrX:154030582 [GRCh38] ChrX:153296033 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys) |
single nucleotide variant |
Rett syndrome [RCV000415409]|not provided [RCV003144255] |
ChrX:154032252 [GRCh38] ChrX:153297703 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.988dup (p.Glu330fs) |
duplication |
Rett syndrome [RCV000790460] |
ChrX:154030875..154030876 [GRCh38] ChrX:153296326..153296327 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.851del (p.Pro284fs) |
deletion |
not provided [RCV000413774] |
ChrX:154031013 [GRCh38] ChrX:153296464 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_004992.4(MECP2):c.20G>A (p.Gly7Glu) |
single nucleotide variant |
not provided [RCV000413833] |
ChrX:154092190 [GRCh38] ChrX:153357648 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.413+2dup |
duplication |
not specified [RCV000413817] |
ChrX:154032204..154032205 [GRCh38] ChrX:153297655..153297656 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
See cases [RCV000449330] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) |
copy number loss |
See cases [RCV000449461] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 |
copy number loss |
See cases [RCV000449365] |
ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 |
copy number gain |
See cases [RCV000446471] |
ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 |
copy number loss |
See cases [RCV000446197] |
ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 |
copy number loss |
See cases [RCV000446667] |
ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 |
copy number gain |
See cases [RCV000447331] |
ChrX:152228560..154930047 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 |
copy number loss |
See cases [RCV000447490] |
ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152970475-153524157)x2 |
copy number gain |
See cases [RCV000447506] |
ChrX:152970475..153524157 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 |
copy number gain |
See cases [RCV000446151] |
ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
See cases [RCV000446932] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 |
copy number gain |
See cases [RCV000446310] |
ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 |
copy number loss |
See cases [RCV000446761] |
ChrX:150253008..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 |
copy number gain |
See cases [RCV000447253] |
ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.*16A>G |
single nucleotide variant |
not specified [RCV000420709] |
ChrX:154030351 [GRCh38] ChrX:153295802 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.414T>C (p.Asn138=) |
single nucleotide variant |
not specified [RCV000431102] |
ChrX:154031450 [GRCh38] ChrX:153296901 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003168669]|Rett syndrome [RCV003448307]|Severe neonatal-onset encephalopathy with microcephaly [RCV001519911]|not provided [RCV000873957]|not specified [RCV000431253] |
ChrX:154030987 [GRCh38] ChrX:153296438 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001110792.2(MECP2):c.723G>T (p.Ser241=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318492]|Severe neonatal-onset encephalopathy with microcephaly [RCV001087926]|not provided [RCV000438000] |
ChrX:154031141 [GRCh38] ChrX:153296592 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.1215C>T (p.Pro405=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001430855]|not provided [RCV000865189] |
ChrX:154030649 [GRCh38] ChrX:153296100 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.801_1194del (p.Lys268fs) |
deletion |
not provided [RCV000445583] |
ChrX:154030670..154031063 [GRCh38] ChrX:153296121..153296514 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.-43C>G |
single nucleotide variant |
not specified [RCV000427836] |
ChrX:154097708 [GRCh38] ChrX:153363165 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.1239C>T (p.Ser413=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001402295]|not provided [RCV001720136] |
ChrX:154030625 [GRCh38] ChrX:153296076 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del) |
deletion |
Rett syndrome [RCV000445564] |
ChrX:154030690..154030734 [GRCh38] ChrX:153296141..153296185 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del) |
deletion |
Inborn genetic diseases [RCV001267433]|Severe neonatal-onset encephalopathy with microcephaly [RCV001339351]|not provided [RCV000766764]|not specified [RCV000445565] |
ChrX:154030613..154030648 [GRCh38] ChrX:153296064..153296099 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1060_1061insAG (p.Pro354fs) |
insertion |
Rett syndrome [RCV000445567] |
ChrX:154030803..154030804 [GRCh38] ChrX:153296254..153296255 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.714del (p.Gln239fs) |
deletion |
Rett syndrome [RCV000445569] |
ChrX:154031150 [GRCh38] ChrX:153296601 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1125_1165del (p.Lys376fs) |
deletion |
Rett syndrome [RCV000445572] |
ChrX:154030699..154030739 [GRCh38] ChrX:153296150..153296190 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.504C>A (p.Asp168Glu) |
single nucleotide variant |
Rett syndrome [RCV000445574] |
ChrX:154031360 [GRCh38] ChrX:153296811 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.349A>C (p.Thr117Pro) |
single nucleotide variant |
not specified [RCV000445577] |
ChrX:154032271 [GRCh38] ChrX:153297722 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1191_1244del (p.Leu398_Pro415del) |
deletion |
Rett syndrome [RCV000445580] |
ChrX:154030620..154030673 [GRCh38] ChrX:153296071..153296124 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1184T>C (p.Leu395Pro) |
single nucleotide variant |
Rett syndrome [RCV000445581] |
ChrX:154030680 [GRCh38] ChrX:153296131 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr) |
single nucleotide variant |
not provided [RCV001810891]|not specified [RCV000421418] |
ChrX:154030416 [GRCh38] ChrX:153295867 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1065G>C (p.Gly355=) |
single nucleotide variant |
not specified [RCV000442435] |
ChrX:154030799 [GRCh38] ChrX:153296250 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.62+5300C>G |
single nucleotide variant |
not specified [RCV000442505] |
ChrX:154092304 [GRCh38] ChrX:153357762 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1124A>C (p.Lys375Thr) |
single nucleotide variant |
not provided [RCV000419878] |
ChrX:154030740 [GRCh38] ChrX:153296191 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.*1C>G |
single nucleotide variant |
not provided [RCV001718845] |
ChrX:154030366 [GRCh38] ChrX:153295817 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1240C>A (p.Pro414Thr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000811839]|not provided [RCV000425226] |
ChrX:154030624 [GRCh38] ChrX:153296075 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001110792.2(MECP2):c.753C>A (p.Ala251=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002524890]|not specified [RCV000435693] |
ChrX:154031111 [GRCh38] ChrX:153296562 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.*13C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002436250]|not specified [RCV000443181] |
ChrX:154030354 [GRCh38] ChrX:153295805 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.1098C>T (p.Arg366=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002524772]|not provided [RCV000419502] |
ChrX:154030766 [GRCh38] ChrX:153296217 [GRCh37] ChrX:Xq28 |
benign|likely benign |
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 |
copy number loss |
See cases [RCV000445891] |
ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
NM_001110792.2(MECP2):c.943A>G (p.Ile315Val) |
single nucleotide variant |
not provided [RCV000438431] |
ChrX:154030921 [GRCh38] ChrX:153296372 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1168G>A (p.Ala390Thr) |
single nucleotide variant |
Rett syndrome [RCV003328336]|Severe neonatal-onset encephalopathy with microcephaly [RCV001851034]|not specified [RCV000420177] |
ChrX:154030696 [GRCh38] ChrX:153296147 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1077G>A (p.Lys359=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000920267]|not specified [RCV000437542] |
ChrX:154030787 [GRCh38] ChrX:153296238 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 |
copy number gain |
See cases [RCV000448796] |
ChrX:152886474..153368990 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 |
copy number loss |
See cases [RCV000448724] |
ChrX:126773628..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 |
copy number gain |
See cases [RCV000448034] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.951G>T (p.Lys317Asn) |
single nucleotide variant |
Focal epilepsy [RCV000416950] |
ChrX:154030913 [GRCh38] ChrX:153296364 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1147dup (p.His383fs) |
duplication |
X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000417086] |
ChrX:154030716..154030717 [GRCh38] ChrX:153296167..153296168 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 |
copy number loss |
See cases [RCV000448652] |
ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 |
copy number loss |
See cases [RCV000448865] |
ChrX:134114063..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
NM_001110792.2(MECP2):c.1037_1219del (p.Lys346_Glu406del) |
deletion |
not provided [RCV000481394] |
ChrX:154030645..154030827 [GRCh38] ChrX:153296096..153296278 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.946A>C (p.Lys316Gln) |
single nucleotide variant |
not provided [RCV000482101] |
ChrX:154030918 [GRCh38] ChrX:153296369 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1194_*3444del (p.Pro399fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000467463] |
ChrX:154026923..154030670 [GRCh38] ChrX:153292374..153296121 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.726del (p.Gly244fs) |
deletion |
Rett syndrome [RCV001251834]|Severe neonatal-onset encephalopathy with microcephaly [RCV002526534]|not provided [RCV000482709] |
ChrX:154031138 [GRCh38] ChrX:153296589 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153287264)_(153363188_?)dup |
duplication |
Angelman syndrome [RCV000467623] |
ChrX:153287264..153363188 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs) |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000464233]|not provided [RCV001591077] |
ChrX:154097608..154097609 [GRCh38] ChrX:153363065..153363066 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.563C>T (p.Pro188Leu) |
single nucleotide variant |
Rett syndrome [RCV002244934]|Severe neonatal-onset encephalopathy with microcephaly [RCV000467894] |
ChrX:154031301 [GRCh38] ChrX:153296752 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.597C>A (p.Gly199=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000457241] |
ChrX:154031267 [GRCh38] ChrX:153296718 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.44_49dup (p.Gly15_Gly16dup) |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001297055]|not provided [RCV001704638] |
ChrX:154097616..154097617 [GRCh38] ChrX:153363073..153363074 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.456G>A (p.Ala152=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000472603]|not specified [RCV000613617] |
ChrX:154031408 [GRCh38] ChrX:153296859 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.412A>G (p.Asn138Asp) |
single nucleotide variant |
not provided [RCV000478123] |
ChrX:154032208 [GRCh38] ChrX:153297659 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.771C>G (p.Val257=) |
single nucleotide variant |
Inborn genetic diseases [RCV002383867]|Severe neonatal-onset encephalopathy with microcephaly [RCV000457731]|not provided [RCV001672782]|not specified [RCV000781522] |
ChrX:154031093 [GRCh38] ChrX:153296544 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.846A>G (p.Arg282=) |
single nucleotide variant |
Inborn genetic diseases [RCV002418452]|Severe neonatal-onset encephalopathy with microcephaly [RCV001521217]|not provided [RCV000465721] |
ChrX:154031018 [GRCh38] ChrX:153296469 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_004992.3(MECP2):c.-114_-113insAGGAGG |
insertion |
not specified [RCV000486852] |
ChrX:154097618..154097619 [GRCh38] ChrX:153363075..153363076 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.486G>C (p.Leu162=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001482270] |
ChrX:154031378 [GRCh38] ChrX:153296829 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) |
single nucleotide variant |
Rett syndrome [RCV001775123]|Severe neonatal-onset encephalopathy with microcephaly [RCV002525978]|not provided [RCV000487257] |
ChrX:154032331 [GRCh38] ChrX:153297782 [GRCh37] ChrX:Xq28 |
likely pathogenic|benign|uncertain significance |
NM_001110792.2(MECP2):c.1245del (p.Glu416fs) |
deletion |
not provided [RCV000480265] |
ChrX:154030619 [GRCh38] ChrX:153296070 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 |
copy number gain |
See cases [RCV000510478] |
ChrX:151201777..154741703 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1102_1202del (p.Ser369fs) |
deletion |
Rett syndrome [RCV000504131] |
ChrX:154030662..154030762 [GRCh38] ChrX:153296113..153296213 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1270_1373del (p.Val424fs) |
deletion |
Rett syndrome [RCV000498005] |
ChrX:154030491..154030594 [GRCh38] ChrX:153295942..153296045 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.251del (p.Pro84fs) |
deletion |
Rett syndrome [RCV000504294] |
ChrX:154032369 [GRCh38] ChrX:153297820 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.860_861del (p.Val287fs) |
microsatellite |
Rett syndrome [RCV000498631] |
ChrX:154031003..154031004 [GRCh38] ChrX:153296454..153296455 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp) |
single nucleotide variant |
Rett syndrome [RCV003448315]|Severe neonatal-onset encephalopathy with microcephaly [RCV001455468]|not provided [RCV000497392] |
ChrX:154030409 [GRCh38] ChrX:153295860 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001110792.2(MECP2):c.860T>C (p.Val287Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002431445]|Severe neonatal-onset encephalopathy with microcephaly [RCV001049497]|not provided [RCV000497544] |
ChrX:154031004 [GRCh38] ChrX:153296455 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.571C>G (p.Pro191Ala) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001070300]|not provided [RCV000497938] |
ChrX:154031293 [GRCh38] ChrX:153296744 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.94G>C (p.Gly32Arg) |
single nucleotide variant |
not specified [RCV000500533] |
ChrX:154032526 [GRCh38] ChrX:153297977 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1177C>T (p.Pro393Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002524071]|not provided [RCV000498332] |
ChrX:154030687 [GRCh38] ChrX:153296138 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 |
copy number gain |
See cases [RCV000510362] |
ChrX:153097608..153681801 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.389G>C (p.Gly130Ala) |
single nucleotide variant |
not provided [RCV000498617] |
ChrX:154032231 [GRCh38] ChrX:153297682 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.955A>G (p.Lys319Glu) |
single nucleotide variant |
not provided [RCV000493529] |
ChrX:154030909 [GRCh38] ChrX:153296360 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) |
duplication |
Autism, susceptibility to, X-linked 3 [RCV001197201]|Rett syndrome [RCV002226465]|Severe neonatal-onset encephalopathy with microcephaly [RCV001231788]|not provided [RCV000493742] |
ChrX:154030619..154030620 [GRCh38] ChrX:153296070..153296071 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 |
copy number gain |
See cases [RCV000511787] |
ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_001110792.2(MECP2):c.1120C>T (p.Pro374Ser) |
single nucleotide variant |
Intellectual disability [RCV001257760]|Rett syndrome [RCV003448314]|Severe neonatal-onset encephalopathy with microcephaly [RCV001312686]|not provided [RCV000493837] |
ChrX:154030744 [GRCh38] ChrX:153296195 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic|uncertain significance |
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 |
copy number loss |
See cases [RCV000511572] |
ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 |
copy number loss |
See cases [RCV000511936] |
ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 |
copy number loss |
See cases [RCV000511482] |
ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) |
copy number gain |
See cases [RCV000512020] |
ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 |
copy number loss |
See cases [RCV000511490] |
ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 |
copy number gain |
See cases [RCV000510826] |
ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 |
copy number gain |
See cases [RCV000511307] |
ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 |
copy number loss |
See cases [RCV000511228] |
ChrX:146232592..155233731 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
NM_001110792.2(MECP2):c.1458T>C (p.Pro486=) |
single nucleotide variant |
not provided [RCV000712282]|not specified [RCV000601197] |
ChrX:154030406 [GRCh38] ChrX:153295857 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 |
copy number loss |
See cases [RCV000510820] |
ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 |
copy number loss |
See cases [RCV000510866] |
ChrX:151963528..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 |
copy number loss |
See cases [RCV000510920] |
ChrX:151311551..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153253477-153438781)x3 |
copy number gain |
See cases [RCV000510923] |
ChrX:153253477..153438781 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 |
copy number gain |
See cases [RCV000511034] |
ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
NM_001110792.2(MECP2):c.1138C>G (p.His380Asp) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645115] |
ChrX:154030726 [GRCh38] ChrX:153296177 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.737C>T (p.Ala246Val) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645116] |
ChrX:154031127 [GRCh38] ChrX:153296578 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.286C>T (p.Arg96Trp) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645117]|not provided [RCV001558139] |
ChrX:154032334 [GRCh38] ChrX:153297785 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1384dup (p.Tyr462fs) |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645118] |
ChrX:154030479..154030480 [GRCh38] ChrX:153295930..153295931 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1325C>T (p.Pro442Leu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001520075] |
ChrX:154030539 [GRCh38] ChrX:153295990 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001110792.2(MECP2):c.539G>C (p.Arg180Pro) |
single nucleotide variant |
not provided [RCV003318150] |
ChrX:154031325 [GRCh38] ChrX:153296776 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.44G>A (p.Gly15Glu) |
single nucleotide variant |
not specified [RCV000606190] |
ChrX:154097622 [GRCh38] ChrX:153363079 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1055dup (p.Ser353fs) |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000534765] |
ChrX:154030808..154030809 [GRCh38] ChrX:153296259..153296260 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.62+20C>G |
single nucleotide variant |
not specified [RCV000606247] |
ChrX:154097584 [GRCh38] ChrX:153363041 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.953G>C (p.Arg318Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV000623502]|Severe neonatal-onset encephalopathy with microcephaly [RCV002531911] |
ChrX:154030911 [GRCh38] ChrX:153296362 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.793delinsTT (p.Arg265fs) |
indel |
Rett syndrome [RCV003317024] |
ChrX:154031071 [GRCh38] ChrX:153296522 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:153138672-153665655) |
copy number gain |
Microcytic anemia [RCV000626549] |
ChrX:153138672..153665655 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1200_1220del (p.Pro401_Ser407del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645109] |
ChrX:154030644..154030664 [GRCh38] ChrX:153296095..153296115 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.531C>T (p.Pro177=) |
single nucleotide variant |
Inborn genetic diseases [RCV002334145]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645125] |
ChrX:154031333 [GRCh38] ChrX:153296784 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.1143T>C (p.His381=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645131] |
ChrX:154030721 [GRCh38] ChrX:153296172 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_153295726)_(153786885_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] |
ChrX:153295726..153786885 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.414-3C>T |
single nucleotide variant |
Rett syndrome [RCV000625805]|Severe neonatal-onset encephalopathy with microcephaly [RCV001034244] |
ChrX:154031453 [GRCh38] ChrX:153296904 [GRCh37] ChrX:Xq28 |
likely pathogenic|benign |
NM_001110792.2(MECP2):c.820C>G (p.Gln274Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV000624768] |
ChrX:154031044 [GRCh38] ChrX:153296495 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.348G>T (p.Trp116Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV000624621] |
ChrX:154032272 [GRCh38] ChrX:153297723 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.918A>G (p.Arg306=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001517219]|not provided [RCV001712690] |
ChrX:154030946 [GRCh38] ChrX:153296397 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.1170C>T (p.Ala390=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002062845]|not specified [RCV000615597] |
ChrX:154030694 [GRCh38] ChrX:153296145 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1230C>T (p.Asp410=) |
single nucleotide variant |
Inborn genetic diseases [RCV002311959]|Severe neonatal-onset encephalopathy with microcephaly [RCV002064352]|not provided [RCV001719081] |
ChrX:154030634 [GRCh38] ChrX:153296085 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1188_1207del (p.Pro396_Pro397insTer) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002525236]|not provided [RCV000523524] |
ChrX:154030657..154030676 [GRCh38] ChrX:153296108..153296127 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.632C>G (p.Pro211Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002528655]|Severe neonatal-onset encephalopathy with microcephaly [RCV000691182]|not specified [RCV000610375] |
ChrX:154031232 [GRCh38] ChrX:153296683 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1486_*24del (p.Arg496_Ter499del) |
deletion |
not provided [RCV000597280] |
ChrX:154030343..154030378 [GRCh38] ChrX:153295794..153295829 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1353G>A (p.Ala451=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000938249]|not provided [RCV001704712] |
ChrX:154030511 [GRCh38] ChrX:153295962 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.33AGG[4] (p.Gly16del) |
microsatellite |
Inborn genetic diseases [RCV002331090]|Severe neonatal-onset encephalopathy with microcephaly [RCV001522067]|not provided [RCV001704833] |
ChrX:154097619..154097621 [GRCh38] ChrX:153363076..153363078 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys) |
single nucleotide variant |
MECP2-related condition [RCV003420023]|Severe neonatal-onset encephalopathy with microcephaly [RCV002065127]|not provided [RCV000585605]|not specified [RCV000780398] |
ChrX:154031295 [GRCh38] ChrX:153296746 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1368C>T (p.Ala456=) |
single nucleotide variant |
not specified [RCV000613731] |
ChrX:154030496 [GRCh38] ChrX:153295947 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.932C>T (p.Thr311Ile) |
single nucleotide variant |
not provided [RCV003318305] |
ChrX:154030932 [GRCh38] ChrX:153296383 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.-14A>C |
single nucleotide variant |
not specified [RCV000611210] |
ChrX:154097679 [GRCh38] ChrX:153363136 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1184_1195del (p.Leu395_Leu398del) |
deletion |
Rett syndrome [RCV003328441]|Severe neonatal-onset encephalopathy with microcephaly [RCV001338659]|not specified [RCV000613870] |
ChrX:154030669..154030680 [GRCh38] ChrX:153296120..153296131 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.62+20C>A |
single nucleotide variant |
not specified [RCV000611367] |
ChrX:154097584 [GRCh38] ChrX:153363041 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.763A>G (p.Thr255Ala) |
single nucleotide variant |
not specified [RCV000606712] |
ChrX:154031101 [GRCh38] ChrX:153296552 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1374C>T (p.Ala458=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002064130]|not specified [RCV000611825] |
ChrX:154030490 [GRCh38] ChrX:153295941 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.-35T>G |
single nucleotide variant |
not specified [RCV000611895] |
ChrX:154097700 [GRCh38] ChrX:153363157 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 |
copy number gain |
See cases [RCV000512403] |
ChrX:152899437..153624564 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.552A>G (p.Pro184=) |
single nucleotide variant |
not specified [RCV000605454] |
ChrX:154031312 [GRCh38] ChrX:153296763 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 |
copy number loss |
See cases [RCV000512372] |
ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
NM_001110792.2(MECP2):c.1250_1263del (p.Pro417fs) |
deletion |
not provided [RCV000512727] |
ChrX:154030601..154030614 [GRCh38] ChrX:153296052..153296065 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1173del (p.Val392fs) |
deletion |
Rett syndrome [RCV003322610]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645108]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV001252979] |
ChrX:154030691 [GRCh38] ChrX:153296142 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.1352_1353del (p.Ala451fs) |
microsatellite |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645110] |
ChrX:154030511..154030512 [GRCh38] ChrX:153295962..153295963 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1211A>C (p.Glu404Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002331200]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645111] |
ChrX:154030653 [GRCh38] ChrX:153296104 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1151_1357del (p.His384_Ala453delinsPro) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645114] |
ChrX:154030507..154030713 [GRCh38] ChrX:153295958..153296164 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.579T>C (p.Ala193=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645123] |
ChrX:154031285 [GRCh38] ChrX:153296736 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) |
single nucleotide variant |
Rett syndrome [RCV000991004]|not provided [RCV000512893] |
ChrX:154031377 [GRCh38] ChrX:153296828 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1161C>T (p.Ser387=) |
single nucleotide variant |
Rett syndrome [RCV003448327]|Severe neonatal-onset encephalopathy with microcephaly [RCV001522308]|not provided [RCV000596923] |
ChrX:154030703 [GRCh38] ChrX:153296154 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NC_000023.10:g.(?_153128098)_(153599633_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] |
ChrX:153128098..153599633 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.908C>G (p.Ser303Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV000623456]|Severe neonatal-onset encephalopathy with microcephaly [RCV001855298] |
ChrX:154030956 [GRCh38] ChrX:153296407 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 |
copy number gain |
See cases [RCV000512173] |
ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_001110792.2(MECP2):c.52G>A (p.Glu18Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV000624625]|not specified [RCV000781520] |
ChrX:154097614 [GRCh38] ChrX:153363071 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro) |
single nucleotide variant |
not provided [RCV000678236] |
ChrX:154032376 [GRCh38] ChrX:153297827 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.319_322del (p.Tyr107fs) |
deletion |
not provided [RCV000678238] |
ChrX:154032298..154032301 [GRCh38] ChrX:153297749..153297752 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.605G>A (p.Arg202His) |
single nucleotide variant |
Rett syndrome [RCV000662350] |
ChrX:154031259 [GRCh38] ChrX:153296710 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.876del (p.Ala293fs) |
deletion |
Rett syndrome [RCV000659839]|Severe neonatal-onset encephalopathy with microcephaly [RCV000706646] |
ChrX:154030988 [GRCh38] ChrX:153296439 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.1173dup (p.Val392fs) |
duplication |
Rett syndrome [RCV000660654]|Severe neonatal-onset encephalopathy with microcephaly [RCV000702922]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002249391]|not provided [RCV001009240] |
ChrX:154030690..154030691 [GRCh38] ChrX:153296141..153296142 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.433C>A (p.Arg145Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV001266416]|not provided [RCV000659187] |
ChrX:154031431 [GRCh38] ChrX:153296882 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.275C>G (p.Ser92Cys) |
single nucleotide variant |
not provided [RCV000678234] |
ChrX:154032345 [GRCh38] ChrX:153297796 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1200_1235delinsT (p.Pro401fs) |
indel |
Rett syndrome [RCV000677730] |
ChrX:154030629..154030664 [GRCh38] ChrX:153296080..153296115 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.*9G>T |
single nucleotide variant |
not provided [RCV000678232] |
ChrX:154030358 [GRCh38] ChrX:153295809 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.937C>T (p.Leu313Phe) |
single nucleotide variant |
not provided [RCV000678240] |
ChrX:154030927 [GRCh38] ChrX:153296378 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 |
copy number loss |
not provided [RCV000684386] |
ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 |
copy number loss |
not provided [RCV000684401] |
ChrX:139504488..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 |
copy number gain |
not provided [RCV000684402] |
ChrX:140388077..155233731 [GRCh37] ChrX:Xq27.2-28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 |
copy number loss |
not provided [RCV000684397] |
ChrX:138331745..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 |
copy number loss |
not provided [RCV000684373] |
ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 |
copy number loss |
not provided [RCV000684357] |
ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 |
copy number loss |
not provided [RCV000684363] |
ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 |
copy number gain |
not provided [RCV000684738] |
ChrX:152628304..153594168 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 |
copy number gain |
not provided [RCV000684739] |
ChrX:152941302..153438781 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:153322172-153624604)x2 |
copy number gain |
not provided [RCV000684742] |
ChrX:153322172..153624604 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:153123907-153431401)x2 |
copy number gain |
not provided [RCV000684741] |
ChrX:153123907..153431401 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1033_1037del (p.Gly345fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000699118] |
ChrX:154030827..154030831 [GRCh38] ChrX:153296278..153296282 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.875CCG[1] (p.Ala293del) |
microsatellite |
Severe neonatal-onset encephalopathy with microcephaly [RCV000699119] |
ChrX:154030984..154030986 [GRCh38] ChrX:153296435..153296437 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs) |
deletion |
Rett syndrome [RCV000708591] |
ChrX:154030553..154031127 [GRCh38] ChrX:153296004..153296578 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_004992.3(MECP2):c.27-8916_1212del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000690615] |
ChrX:154030616..154041473 [GRCh38] ChrX:153296067..153306924 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NC_000023.10:g.(?_152954010)_(153599633_?)dup |
duplication |
Creatine transporter deficiency [RCV003117500]|Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] |
ChrX:152954010..153599633 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NC_000023.10:g.(?_153363041)_(153363142_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000708161] |
ChrX:153363041..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153128823)_(153416424_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000708432] |
ChrX:153128823..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.780C>G (p.Ile260Met) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000686804] |
ChrX:154031084 [GRCh38] ChrX:153296535 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1315G>A (p.Asp439Asn) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000695420] |
ChrX:154030549 [GRCh38] ChrX:153296000 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153128118)_(153416424_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000707765] |
ChrX:153128118..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153170600)_(153409869_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000708104]|not provided [RCV003117501] |
ChrX:153170600..153409869 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|no classifications from unflagged records |
NM_001110792.2(MECP2):c.670G>T (p.Val224Phe) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001416199] |
ChrX:154031194 [GRCh38] ChrX:153296645 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1117C>A (p.Pro373Thr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000691585]|not provided [RCV000999554] |
ChrX:154030747 [GRCh38] ChrX:153296198 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1190_1226delinsAACAGAATTCACCACCGTAACCATTTGGAGCACAGCAGGCTCGAATCCAGCTCCATCCTGGGACCTAATGGCCGTCTATGCAGCAGACTCGGATCCACCTGCGTCCTGGGATG (p.Pro397_Glu409delinsGlnGlnAsnSerProProTer) |
indel |
Severe neonatal-onset encephalopathy with microcephaly [RCV000694390] |
ChrX:154030638..154030674 [GRCh38] ChrX:153296089..153296125 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1061C>G (p.Pro354Arg) |
single nucleotide variant |
Rett syndrome [RCV002289970]|Severe neonatal-onset encephalopathy with microcephaly [RCV000691863] |
ChrX:154030803 [GRCh38] ChrX:153296254 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153295726)_(153599633_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000708412] |
ChrX:153295726..153599633 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153184286)_(153409869_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000708531] |
ChrX:153184286..153409869 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.598C>T (p.Arg200Trp) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000686617]|not provided [RCV001584555] |
ChrX:154031266 [GRCh38] ChrX:153296717 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153295726)_(153298028_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000708536] |
ChrX:153295726..153298028 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del) |
microsatellite |
Inborn genetic diseases [RCV002313582]|Severe neonatal-onset encephalopathy with microcephaly [RCV002067029]|Severe neonatal-onset encephalopathy with microcephaly [RCV002493275]|not provided [RCV001712737] |
ChrX:154097643..154097645 [GRCh38] ChrX:153363100..153363102 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.63-2890_517del |
deletion |
Epileptic encephalopathy [RCV000417025] |
ChrX:154031347..154035447 [GRCh38] ChrX:153296798..153300898 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs) |
deletion |
Rett syndrome [RCV000445568] |
ChrX:154030106..154030670 [GRCh38] ChrX:153295557..153296121 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.148_152del (p.Glu50fs) |
deletion |
Facial hypertrichosis [RCV001004017] |
ChrX:154032468..154032472 [GRCh38] ChrX:153297919..153297923 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1186C>T (p.Pro396Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002316751] |
ChrX:154030678 [GRCh38] ChrX:153296129 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.81C>T (p.Asp27=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317415]|Severe neonatal-onset encephalopathy with microcephaly [RCV001510392] |
ChrX:154032539 [GRCh38] ChrX:153297990 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.866C>T (p.Ala289Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002318144]|not provided [RCV003437419] |
ChrX:154030998 [GRCh38] ChrX:153296449 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1193_1198del (p.Leu398_Pro399del) |
deletion |
History of neurodevelopmental disorder [RCV000720619] |
ChrX:154030666..154030671 [GRCh38] ChrX:153296117..153296122 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.301C>T (p.Arg101Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002318251]|not provided [RCV001561656] |
ChrX:154032319 [GRCh38] ChrX:153297770 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002318289]|Severe neonatal-onset encephalopathy with microcephaly [RCV001862087]|not specified [RCV003117522] |
ChrX:154030519 [GRCh38] ChrX:153295970 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.47_57dup (p.Arg20fs) |
duplication |
Inborn genetic diseases [RCV002318290]|Rett syndrome [RCV003380705] |
ChrX:154097608..154097609 [GRCh38] ChrX:153363065..153363066 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 |
copy number loss |
See cases [RCV002285075] |
ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_001110792.2(MECP2):c.47_49dup (p.Gly16dup) |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001873740]|not provided [RCV001529207] |
ChrX:154097616..154097617 [GRCh38] ChrX:153363073..153363074 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1271T>C (p.Val424Ala) |
single nucleotide variant |
not provided [RCV001725842] |
ChrX:154030593 [GRCh38] ChrX:153296044 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 |
copy number loss |
not provided [RCV000753810] |
ChrX:138750575..155246749 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 |
copy number gain |
not provided [RCV000753922] |
ChrX:152806628..153626649 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3 |
copy number gain |
not provided [RCV000753930] |
ChrX:153184816..153626794 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:153292180-153296464)x2 |
copy number gain |
not provided [RCV000753931] |
ChrX:153292180..153296464 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq28(chrX:153295624-153296445)x2 |
copy number gain |
not provided [RCV000753932] |
ChrX:153295624..153296445 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq28(chrX:153296295-153296464)x2 |
copy number gain |
not provided [RCV000753933] |
ChrX:153296295..153296464 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 |
copy number loss |
not provided [RCV000753815] |
ChrX:139504958..155254881 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 |
copy number loss |
not provided [RCV000753606] |
ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 |
copy number loss |
not provided [RCV000753271] |
ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 |
copy number loss |
not provided [RCV000753278] |
ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 |
copy number gain |
not provided [RCV000753272] |
ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele |
duplication |
Autism [RCV000754365] |
ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 |
copy number gain |
not provided [RCV000753276] |
ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 |
copy number loss |
not provided [RCV000753556] |
ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
NM_001110792.2(MECP2):c.1244C>G (p.Pro415Arg) |
single nucleotide variant |
not provided [RCV001584865]|not specified [RCV002246442] |
ChrX:154030620 [GRCh38] ChrX:153296071 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
GRCh37/hg19 Xq28(chrX:153263517-155260560)x2 |
copy number gain |
Intellectual disability [RCV001638056] |
ChrX:153263517..155260560 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.956_976del (p.Lys319_Ser325del) |
deletion |
Rett syndrome [RCV003314333] |
ChrX:154030888..154030908 [GRCh38] ChrX:153296339..153296359 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1248G>A (p.Glu416=) |
single nucleotide variant |
not provided [RCV000762684] |
ChrX:154030616 [GRCh38] ChrX:153296067 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_153295726)_(153298028_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001032264] |
ChrX:153295726..153298028 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.331A>C (p.Thr111Pro) |
single nucleotide variant |
Rett syndrome [RCV001507069]|Severe neonatal-onset encephalopathy with microcephaly [RCV001065758] |
ChrX:154032289 [GRCh38] ChrX:153297740 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1153_1207del (p.Ser385fs) |
deletion |
Rett syndrome [RCV000990997] |
ChrX:154030657..154030711 [GRCh38] ChrX:153296108..153296162 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs) |
duplication |
Rett syndrome [RCV000991008] |
ChrX:154097608..154097609 [GRCh38] ChrX:153363065..153363066 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.-23C>T |
single nucleotide variant |
not provided [RCV001578090] |
ChrX:154097688 [GRCh38] ChrX:153363145 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.62+2T>A |
single nucleotide variant |
not provided [RCV001574539] |
ChrX:154097602 [GRCh38] ChrX:153363059 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.3G>A (p.Met1Ile) |
single nucleotide variant |
X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002246437]|not provided [RCV001574971] |
ChrX:154097663 [GRCh38] ChrX:153363120 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1352C>T (p.Ala451Val) |
single nucleotide variant |
Rett syndrome [RCV003382627]|not provided [RCV001575312] |
ChrX:154030512 [GRCh38] ChrX:153295963 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.1365C>T (p.Ala455=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000868627] |
ChrX:154030499 [GRCh38] ChrX:153295950 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.1468C>A (p.Arg490=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001399308] |
ChrX:154030396 [GRCh38] ChrX:153295847 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1221C>T (p.Ser407=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000970526] |
ChrX:154030643 [GRCh38] ChrX:153296094 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.62+5429C>T |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000944132] |
ChrX:154092175 [GRCh38] ChrX:153357633 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.873T>C (p.Ala291=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001500182] |
ChrX:154030991 [GRCh38] ChrX:153296442 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1327A>C (p.Lys443Gln) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001517831] |
ChrX:154030537 [GRCh38] ChrX:153295988 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.1185C>T (p.Leu395=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001455008] |
ChrX:154030679 [GRCh38] ChrX:153296130 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.942C>T (p.Pro314=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000866117] |
ChrX:154030922 [GRCh38] ChrX:153296373 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.633C>G (p.Pro211=) |
single nucleotide variant |
Rett syndrome [RCV003448354]|Severe neonatal-onset encephalopathy with microcephaly [RCV002064532]|not provided [RCV000866215] |
ChrX:154031231 [GRCh38] ChrX:153296682 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.641C>G (p.Ala214Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001055625]|not specified [RCV003396688] |
ChrX:154031223 [GRCh38] ChrX:153296674 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 |
copy number loss |
not provided [RCV001007318] |
ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_001110792.2(MECP2):c.1244C>A (p.Pro415His) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001056054] |
ChrX:154030620 [GRCh38] ChrX:153296071 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_152954010)_(153363142_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] |
ChrX:152954010..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1427C>T (p.Ser476Phe) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001034056] |
ChrX:154030437 [GRCh38] ChrX:153295888 [GRCh37] ChrX:Xq28 |
pathogenic|likely benign |
GRCh37/hg19 Xq28(chrX:153281481-153296901)x1 |
copy number loss |
not provided [RCV000996093] |
ChrX:153281481..153296901 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1151A>C (p.His384Pro) |
single nucleotide variant |
not specified [RCV000780400] |
ChrX:154030713 [GRCh38] ChrX:153296164 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1153T>C (p.Ser385Pro) |
single nucleotide variant |
not specified [RCV000780401] |
ChrX:154030711 [GRCh38] ChrX:153296162 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NC_000023.10:g.(?_153128108)_(153609567_?)dup |
duplication |
X-linked Emery-Dreifuss muscular dystrophy [RCV000795425] |
ChrX:153128108..153609567 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1154C>A (p.Ser385Ter) |
single nucleotide variant |
not specified [RCV000781521] |
ChrX:154030710 [GRCh38] ChrX:153296161 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.650_651del (p.Glu217fs) |
microsatellite |
Rett syndrome [RCV000787333] |
ChrX:154031213..154031214 [GRCh38] ChrX:153296664..153296665 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.948G>C (p.Lys316Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002370183]|Severe neonatal-onset encephalopathy with microcephaly [RCV000811977] |
ChrX:154030916 [GRCh38] ChrX:153296367 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.609C>G (p.Pro203=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000865893] |
ChrX:154031255 [GRCh38] ChrX:153296706 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1218G>A (p.Glu406=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000868713] |
ChrX:154030646 [GRCh38] ChrX:153296097 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1173C>A (p.Pro391=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001421619] |
ChrX:154030691 [GRCh38] ChrX:153296142 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1122C>G (p.Pro374=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001480417] |
ChrX:154030742 [GRCh38] ChrX:153296193 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1326C>T (p.Pro442=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000942962] |
ChrX:154030538 [GRCh38] ChrX:153295989 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002501274]|Severe neonatal-onset encephalopathy with microcephaly [RCV002536778] |
ChrX:154030571 [GRCh38] ChrX:153296022 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.917_1208del (p.Arg306fs) |
deletion |
Rett syndrome [RCV000787335] |
ChrX:154030656..154030947 [GRCh38] ChrX:153296107..153296398 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.108A>G (p.Lys36=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001510469]|not provided [RCV001619839]|not specified [RCV000780399] |
ChrX:154032512 [GRCh38] ChrX:153297963 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.764_767del (p.Thr255fs) |
deletion |
Rett syndrome [RCV000781523] |
ChrX:154031097..154031100 [GRCh38] ChrX:153296548..153296551 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:153174571-153609996) |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV000767661] |
ChrX:153174571..153609996 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) |
copy number gain |
not provided [RCV000767679] |
ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152372767-155233731) |
copy number gain |
Chromosome Xq28 duplication syndrome [RCV002280621]|Syndromic X-linked intellectual disability Lubs type [RCV002280620] |
ChrX:152372767..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152954020)_(154096327_?)del |
deletion |
Adrenoleukodystrophy [RCV000815921] |
ChrX:152954020..154096327 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1064_1246del (p.Gly355_Pro415del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000794038] |
ChrX:154030618..154030800 [GRCh38] ChrX:153296069..153296251 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.112C>G (p.Leu38Val) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000795931] |
ChrX:154032508 [GRCh38] ChrX:153297959 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153137587)_(153363142_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000794134] |
ChrX:153137587..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153128098)_(153363142_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000801357] |
ChrX:153128098..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.825C>T (p.Ala275=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001504595] |
ChrX:154031039 [GRCh38] ChrX:153296490 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_153297634)_(153298028_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000805925] |
ChrX:153297634..153298028 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter) |
single nucleotide variant |
Rett syndrome [RCV000991001]|Severe neonatal-onset encephalopathy with microcephaly [RCV001869365] |
ChrX:154031323 [GRCh38] ChrX:153296774 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 |
copy number loss |
not provided [RCV000846958] |
ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
NM_001110792.2(MECP2):c.982_1248del (p.Val328_Glu416del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000792264] |
ChrX:154030616..154030882 [GRCh38] ChrX:153296067..153296333 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.10G>A (p.Ala4Thr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000801086] |
ChrX:154097656 [GRCh38] ChrX:153363113 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1179_1196del (p.Leu394_Pro399del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000797416] |
ChrX:154030668..154030685 [GRCh38] ChrX:153296119..153296136 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.659A>G (p.Gln220Arg) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000811076] |
ChrX:154031205 [GRCh38] ChrX:153296656 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1031G>A (p.Ser344Asn) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000812170] |
ChrX:154030833 [GRCh38] ChrX:153296284 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.62+5503del |
deletion |
Rett syndrome [RCV000991006] |
ChrX:154092101 [GRCh38] ChrX:153357559 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.280A>T (p.Lys94Ter) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000816083] |
ChrX:154032340 [GRCh38] ChrX:153297791 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1397G>C (p.Gly466Ala) |
single nucleotide variant |
not provided [RCV001090496] |
ChrX:154030467 [GRCh38] ChrX:153295918 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer) |
deletion |
Neurodevelopmental delay [RCV002274137]|Severe neonatal-onset encephalopathy with microcephaly [RCV001862678]|not provided [RCV001090498] |
ChrX:154030656..154030666 [GRCh38] ChrX:153296107..153296117 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.63-5778_1174del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000805421] |
ChrX:154030690..154038335 [GRCh38] ChrX:153296141..153303786 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.414-6C>A |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001066682] |
ChrX:154031456 [GRCh38] ChrX:153296907 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.230C>T (p.Ser77Leu) |
single nucleotide variant |
Rett syndrome [RCV001007927] |
ChrX:154032390 [GRCh38] ChrX:153297841 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1228G>T (p.Asp410Tyr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001044971] |
ChrX:154030636 [GRCh38] ChrX:153296087 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.785_786insT (p.Gly264fs) |
insertion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000823208] |
ChrX:154031078..154031079 [GRCh38] ChrX:153296529..153296530 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.95del (p.Gly32fs) |
deletion |
Rett syndrome [RCV000787334] |
ChrX:154032525 [GRCh38] ChrX:153297976 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1301G>A (p.Gly434Asp) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001045877] |
ChrX:154030563 [GRCh38] ChrX:153296014 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NC_000023.10:g.(?_153295726)_(153596478_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000794826] |
ChrX:153295726..153596478 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.107A>G (p.Lys36Arg) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000807863] |
ChrX:154032513 [GRCh38] ChrX:153297964 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001110792.2(MECP2):c.23del (p.Ala8fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV000822577] |
ChrX:154097643 [GRCh38] ChrX:153363100 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152990712)_(153650075_?)del |
deletion |
X-linked Emery-Dreifuss muscular dystrophy [RCV000823256] |
ChrX:152990712..153650075 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.62+5140A>G |
single nucleotide variant |
not provided [RCV000837266] |
ChrX:154092464 [GRCh38] ChrX:153357922 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.62+304dup |
duplication |
not provided [RCV000844541] |
ChrX:154097299..154097300 [GRCh38] ChrX:Xq28 |
benign |
NM_004992.3:c.377+266T>C |
single nucleotide variant |
not provided [RCV000844544] |
ChrX:153297392 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.1117C>T (p.Pro373Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV000812240]|not provided [RCV001593003] |
ChrX:154030747 [GRCh38] ChrX:153296198 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
GRCh37/hg19 Xq28(chrX:153303159-153383470)x3 |
copy number gain |
not provided [RCV000847378] |
ChrX:153303159..153383470 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153105400-153438105)x2 |
copy number gain |
not provided [RCV000846316] |
ChrX:153105400..153438105 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1284G>C (p.Glu428Asp) |
single nucleotide variant |
not provided [RCV000992299] |
ChrX:154030580 [GRCh38] ChrX:153296031 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.63-73_1087del |
deletion |
Rett syndrome [RCV000991244] |
ChrX:154030777..154032630 [GRCh38] ChrX:153296228..153298081 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.189C>T (p.His63=) |
single nucleotide variant |
not provided [RCV000992300] |
ChrX:154032431 [GRCh38] ChrX:153297882 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.785dup (p.Gly264fs) |
duplication |
Rett syndrome [RCV000990998] |
ChrX:154031078..154031079 [GRCh38] ChrX:153296529..153296530 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.310_311dup (p.Pro105fs) |
duplication |
Rett syndrome [RCV000991005] |
ChrX:154032308..154032309 [GRCh38] ChrX:153297759..153297760 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153154008-153624566)x2 |
copy number gain |
not provided [RCV000846110] |
ChrX:153154008..153624566 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1354dup (p.Val452fs) |
duplication |
not provided [RCV001008586] |
ChrX:154030509..154030510 [GRCh38] ChrX:153295960..153295961 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.331dup (p.Thr111fs) |
duplication |
Rett syndrome [RCV001249299]|not provided [RCV001008640] |
ChrX:154032288..154032289 [GRCh38] ChrX:153297739..153297740 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 |
copy number loss |
not provided [RCV000849097] |
ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 |
copy number loss |
not provided [RCV000845672] |
ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153255132-153636707)x3 |
copy number gain |
not provided [RCV000847428] |
ChrX:153255132..153636707 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153347338-153408903)x2 |
copy number gain |
not provided [RCV000846579] |
ChrX:153347338..153408903 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1193_1222delinsA (p.Leu398fs) |
indel |
Rett syndrome [RCV001250738] |
ChrX:154030642..154030671 [GRCh38] ChrX:153296093..153296122 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.62+5469A>T |
single nucleotide variant |
Rett syndrome [RCV000991007] |
ChrX:154092135 [GRCh38] ChrX:153357593 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.63-7080_1196del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001233088] |
ChrX:154030668..154039637 [GRCh38] ChrX:153296119..153305088 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.907_1268delinsAC (p.Ser303_Ser423delinsThr) |
indel |
Severe neonatal-onset encephalopathy with microcephaly [RCV001222554] |
ChrX:154030596..154030957 [GRCh38] ChrX:153296047..153296408 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1241C>A (p.Pro414His) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001224611] |
ChrX:154030623 [GRCh38] ChrX:153296074 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.632C>T (p.Pro211Leu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001209680] |
ChrX:154031232 [GRCh38] ChrX:153296683 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.934_942del (p.Val312_Pro314del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001231968] |
ChrX:154030922..154030930 [GRCh38] ChrX:153296373..153296381 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.745G>A (p.Gly249Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001209986] |
ChrX:154031119 [GRCh38] ChrX:153296570 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1261AGC[2] (p.Ser423del) |
microsatellite |
Severe neonatal-onset encephalopathy with microcephaly [RCV001203890]|not provided [RCV001586043] |
ChrX:154030595..154030597 [GRCh38] ChrX:153296046..153296048 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001110792.2(MECP2):c.1195_1279del (p.Pro399fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001232302] |
ChrX:154030585..154030669 [GRCh38] ChrX:153296036..153296120 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1316_1318del (p.Asp439del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001232303] |
ChrX:154030546..154030548 [GRCh38] ChrX:153295997..153295999 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1129_1134del (p.Glu377_His378del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001203977] |
ChrX:154030730..154030735 [GRCh38] ChrX:153296181..153296186 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.851C>G (p.Pro284Arg) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001224601] |
ChrX:154031013 [GRCh38] ChrX:153296464 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1006C>G (p.Leu336Val) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001228840]|not provided [RCV001726456] |
ChrX:154030858 [GRCh38] ChrX:153296309 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1244del (p.Pro415fs) |
deletion |
not provided [RCV001200553] |
ChrX:154030620 [GRCh38] ChrX:153296071 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.1198_1206delinsACCAGCCCCC (p.Pro400fs) |
indel |
Autism, susceptibility to, X-linked 3 [RCV001197946] |
ChrX:154030658..154030666 [GRCh38] ChrX:153296109..153296117 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 |
copy number loss |
not provided [RCV000848218] |
ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 |
copy number loss |
not provided [RCV000846274] |
ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 |
copy number loss |
not provided [RCV000847838] |
ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.679A>C (p.Lys227Gln) |
single nucleotide variant |
not provided [RCV000996058] |
ChrX:154031185 [GRCh38] ChrX:153296636 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.664A>G (p.Lys222Glu) |
single nucleotide variant |
not provided [RCV000996059] |
ChrX:154031200 [GRCh38] ChrX:153296651 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.171C>T (p.Pro57=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001512326]|not provided [RCV000996060] |
ChrX:154032449 [GRCh38] ChrX:153297900 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.1168_1169insT (p.Ala390fs) |
insertion |
not provided [RCV001200555] |
ChrX:154030695..154030696 [GRCh38] ChrX:153296146..153296147 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002365824]|Rett syndrome [RCV003448371]|Severe neonatal-onset encephalopathy with microcephaly [RCV001873590]|not provided [RCV001172216] |
ChrX:154030609 [GRCh38] ChrX:153296060 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001110792.2(MECP2):c.913A>G (p.Ile305Val) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001212372] |
ChrX:154030951 [GRCh38] ChrX:153296402 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.290G>A (p.Arg97His) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001047333] |
ChrX:154032330 [GRCh38] ChrX:153297781 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1134CCA[4] (p.His384dup) |
microsatellite |
Severe neonatal-onset encephalopathy with microcephaly [RCV001368859]|not provided [RCV001090500] |
ChrX:154030721..154030722 [GRCh38] ChrX:153296172..153296173 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.556A>C (p.Lys186Gln) |
single nucleotide variant |
Autism spectrum disorder [RCV003127311] |
ChrX:154031308 [GRCh38] ChrX:153296759 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly) |
single nucleotide variant |
Autism spectrum disorder [RCV003127312] |
ChrX:154030983 [GRCh38] ChrX:153296434 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.60A>C (p.Arg20Ser) |
single nucleotide variant |
Developmental disorder [RCV003128034] |
ChrX:154097606 [GRCh38] ChrX:153363063 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_152014869)_(154563736_?)del |
deletion |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]|Dyskeratosis congenita [RCV003105406]|not provided [RCV003105407] |
ChrX:152014869..154563736 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|no classifications from unflagged records |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) |
copy number gain |
Klinefelter syndrome [RCV003236730] |
ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.1123AAG[1] (p.Lys376del) |
microsatellite |
not provided [RCV003229896] |
ChrX:154030736..154030738 [GRCh38] ChrX:153296187..153296189 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs) |
deletion |
Syndromic X-linked intellectual disability Lubs type [RCV003333241]|not provided [RCV003127046] |
ChrX:154030686..154030690 [GRCh38] ChrX:153296137..153296141 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.728G>C (p.Gly243Ala) |
single nucleotide variant |
not provided [RCV003234481] |
ChrX:154031136 [GRCh38] ChrX:153296587 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.18C>T (p.Ala6=) |
single nucleotide variant |
not provided [RCV001571503] |
ChrX:154097648 [GRCh38] ChrX:153363105 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_153195397)_(153583460_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003107408]|Methylmalonic acidemia with homocystinuria, type cblX [RCV003122559]|not provided [RCV003122560] |
ChrX:153195397..153583460 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records |
NM_001110792.2(MECP2):c.1195C>A (p.Pro399Thr) |
single nucleotide variant |
not provided [RCV001574266] |
ChrX:154030669 [GRCh38] ChrX:153296120 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1235C>T (p.Thr412Ile) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002568481]|not provided [RCV001575045] |
ChrX:154030629 [GRCh38] ChrX:153296080 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1137C>T (p.His379=) |
single nucleotide variant |
not provided [RCV001641134] |
ChrX:154030727 [GRCh38] ChrX:153296178 [GRCh37] ChrX:Xq28 |
benign |
NC_000023.10:g.(?_153128118)_(153664237_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003107402] |
ChrX:153128118..153664237 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.562C>T (p.Pro188Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002568315]|not provided [RCV001550288] |
ChrX:154031302 [GRCh38] ChrX:153296753 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.-28G>A |
single nucleotide variant |
not provided [RCV001582212] |
ChrX:154097693 [GRCh38] ChrX:153363150 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.840G>A (p.Arg280=) |
single nucleotide variant |
not provided [RCV001532222] |
ChrX:154031024 [GRCh38] ChrX:153296475 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 |
copy number loss |
Premature ovarian insufficiency [RCV000852349] |
ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1223C>T (p.Ser408Phe) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002542188] |
ChrX:154030641 [GRCh38] ChrX:153296092 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1262G>A (p.Ser421Asn) |
single nucleotide variant |
not provided [RCV000886407] |
ChrX:154030602 [GRCh38] ChrX:153296053 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.63-1928_1277del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001210386] |
ChrX:154030587..154034485 [GRCh38] ChrX:153296038..153299936 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1270G>T (p.Val424Phe) |
single nucleotide variant |
MECP2-Related Disorder [RCV001249348] |
ChrX:154030594 [GRCh38] ChrX:153296045 [GRCh37] ChrX:Xq28 |
not provided |
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001035415]|Syndromic X-linked intellectual disability Lubs type [RCV002274117] |
ChrX:154030368 [GRCh38] ChrX:153295819 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1253A>C (p.Gln418Pro) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001236100] |
ChrX:154030611 [GRCh38] ChrX:153296062 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.55G>A (p.Glu19Lys) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001244819]|not provided [RCV001587274] |
ChrX:154097611 [GRCh38] ChrX:153363068 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.23C>A (p.Ala8Glu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001245089] |
ChrX:154097643 [GRCh38] ChrX:153363100 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1092_1165del (p.Arg366fs) |
deletion |
not provided [RCV001200556] |
ChrX:154030699..154030772 [GRCh38] ChrX:153296150..153296223 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.245C>G (p.Ser82Cys) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001216969] |
ChrX:154032375 [GRCh38] ChrX:153297826 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.550C>A (p.Pro184Thr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001344042]|not specified [RCV001193434] |
ChrX:154031314 [GRCh38] ChrX:153296765 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1304_1317del (p.Ser435fs) |
deletion |
not provided [RCV001090497] |
ChrX:154030547..154030560 [GRCh38] ChrX:153295998..153296011 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1269_1270delinsTT (p.Val424Phe) |
indel |
Severe neonatal-onset encephalopathy with microcephaly [RCV001034142] |
ChrX:154030594..154030595 [GRCh38] ChrX:153296045..153296046 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.478A>G (p.Thr160Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002332859]|Severe neonatal-onset encephalopathy with microcephaly [RCV000890166] |
ChrX:154031386 [GRCh38] ChrX:153296837 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1203T>A (p.Pro401=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001432371] |
ChrX:154030661 [GRCh38] ChrX:153296112 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.924G>A (p.Val308=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001474223] |
ChrX:154030940 [GRCh38] ChrX:153296391 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.413+242C>T |
single nucleotide variant |
not provided [RCV001562704] |
ChrX:154031965 [GRCh38] ChrX:153297416 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) |
single nucleotide variant |
Rett syndrome [RCV000991000]|not provided [RCV003128734] |
ChrX:154031311 [GRCh38] ChrX:153296762 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr) |
single nucleotide variant |
Rett syndrome [RCV000991002] |
ChrX:154031362 [GRCh38] ChrX:153296813 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1143_1237del (p.His381fs) |
deletion |
not provided [RCV001725843] |
ChrX:154030627..154030721 [GRCh38] ChrX:153296078..153296172 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1132C>T (p.His378Tyr) |
single nucleotide variant |
not provided [RCV001552753] |
ChrX:154030732 [GRCh38] ChrX:153296183 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.616_1227del (p.Ser206_Glu409del) |
deletion |
not provided [RCV002254485] |
ChrX:154030637..154031248 [GRCh38] ChrX:153296088..153296699 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.732C>T (p.Gly244=) |
single nucleotide variant |
not provided [RCV001576067] |
ChrX:154031132 [GRCh38] ChrX:153296583 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.414-11T>A |
single nucleotide variant |
not provided [RCV002464700] |
ChrX:154031461 [GRCh38] ChrX:153296912 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1313G>A (p.Ser438Asn) |
single nucleotide variant |
not provided [RCV001546573] |
ChrX:154030551 [GRCh38] ChrX:153296002 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1193_1205del (p.Leu398fs) |
deletion |
not provided [RCV001008367] |
ChrX:154030659..154030671 [GRCh38] ChrX:153296110..153296122 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.11:g.154097885= |
variation |
not provided [RCV001540617] |
ChrX:154097885 [GRCh38] ChrX:153363342 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.307C>T (p.Arg103Trp) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001873817]|not provided [RCV001539474] |
ChrX:154032313 [GRCh38] ChrX:153297764 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.62+5488dup |
duplication |
not provided [RCV001592537] |
ChrX:154092100..154092101 [GRCh38] ChrX:153357558..153357559 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.741G>A (p.Glu247=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002569024]|not provided [RCV001564515] |
ChrX:154031123 [GRCh38] ChrX:153296574 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.157_160del (p.Gly53fs) |
deletion |
not provided [RCV001008256] |
ChrX:154032460..154032463 [GRCh38] ChrX:153297911..153297914 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.63-4487_1204del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001035085] |
ChrX:154030660..154037044 [GRCh38] ChrX:153296111..153302495 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1150C>T (p.His384Tyr) |
single nucleotide variant |
Rett syndrome [RCV003448359]|Severe neonatal-onset encephalopathy with microcephaly [RCV001242465]|not specified [RCV001000154] |
ChrX:154030714 [GRCh38] ChrX:153296165 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 |
copy number loss |
not provided [RCV001007322] |
ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 |
copy number gain |
not provided [RCV001007367] |
ChrX:153023149..153345755 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NC_000023.10:g.(?_153295726)_(153363142_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001033709] |
ChrX:153295726..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.343G>A (p.Gly115Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001070837] |
ChrX:154032277 [GRCh38] ChrX:153297728 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1198C>A (p.Pro400Thr) |
single nucleotide variant |
Rett syndrome [RCV001004678] |
ChrX:154030666 [GRCh38] ChrX:153296117 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153194251-153623000)x2 |
copy number gain |
Intellectual disability [RCV001638055] |
ChrX:153194251..153623000 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.230C>A (p.Ser77Ter) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001048131] |
ChrX:154032390 [GRCh38] ChrX:153297841 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.*4T>C |
single nucleotide variant |
not provided [RCV001583671] |
ChrX:154030363 [GRCh38] ChrX:153295814 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1132C>G (p.His378Asp) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001070121] |
ChrX:154030732 [GRCh38] ChrX:153296183 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1091A>G (p.Lys364Arg) |
single nucleotide variant |
not provided [RCV001585093] |
ChrX:154030773 [GRCh38] ChrX:153296224 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.153296106_153296275delins[NC_000008.10:g.50305003_50392184inv;TTACACAG] |
indel |
Rett syndrome [RCV001171507] |
ChrX:153296106..153296275 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.962G>A (p.Arg321Gln) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001235683] |
ChrX:154030902 [GRCh38] ChrX:153296353 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.1019_1233del (p.Leu340fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001219789] |
ChrX:154030631..154030845 [GRCh38] ChrX:153296082..153296296 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1189C>A (p.Pro397Thr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001060396] |
ChrX:154030675 [GRCh38] ChrX:153296126 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.670del (p.Val224fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001060527] |
ChrX:154031194 [GRCh38] ChrX:153296645 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.358C>T (p.Leu120Phe) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001036360] |
ChrX:154032262 [GRCh38] ChrX:153297713 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 |
copy number gain |
not provided [RCV001007368] |
ChrX:153029046..153567369 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1209_1236del (p.Glu404fs) |
deletion |
not provided [RCV001171552] |
ChrX:154030628..154030655 [GRCh38] ChrX:153296079..153296106 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1268G>C (p.Ser423Thr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001203428] |
ChrX:154030596 [GRCh38] ChrX:153296047 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_152990712)_(153650075_?)dup |
duplication |
X-linked Emery-Dreifuss muscular dystrophy [RCV001031812] |
ChrX:152990712..153650075 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1172C>T (p.Pro391Leu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002561076]|not provided [RCV001200554] |
ChrX:154030692 [GRCh38] ChrX:153296143 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.744_751del (p.Gly249fs) |
deletion |
Inborn genetic diseases [RCV001266395]|Severe neonatal-onset encephalopathy with microcephaly [RCV001059005] |
ChrX:154031113..154031120 [GRCh38] ChrX:153296564..153296571 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1168_1169del (p.Ala390fs) |
deletion |
Rett syndrome [RCV001250799] |
ChrX:154030695..154030696 [GRCh38] ChrX:153296146..153296147 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) |
copy number loss |
Intellectual disability [RCV001249592] |
ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1195C>T (p.Pro399Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001211021]|not provided [RCV001576811] |
ChrX:154030669 [GRCh38] ChrX:153296120 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Rett syndrome [RCV001250739] |
ChrX:154097664 [GRCh38] ChrX:153363121 [GRCh37] ChrX:Xq28 |
likely pathogenic|conflicting interpretations of pathogenicity |
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 |
copy number gain |
not provided [RCV001007365] |
ChrX:152516781..153368573 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.661G>T (p.Val221Leu) |
single nucleotide variant |
not specified [RCV001193433] |
ChrX:154031203 [GRCh38] ChrX:153296654 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.418C>A (p.Gln140Lys) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001062759] |
ChrX:154031446 [GRCh38] ChrX:153296897 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.1275_*863del (p.Cys425_Ter499delinsXaa) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001038963] |
ChrX:154029504..154030589 [GRCh38] ChrX:153294955..153296040 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.236G>T (p.Gly79Val) |
single nucleotide variant |
Autism, susceptibility to, X-linked 3 [RCV001196929]|Severe neonatal-onset encephalopathy with microcephaly [RCV002559252] |
ChrX:154032384 [GRCh38] ChrX:153297835 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.148_149insGCCAAAG (p.Glu50fs) |
insertion |
Intellectual disability [RCV001293018]|Rett syndrome [RCV001253673] |
ChrX:154032471..154032472 [GRCh38] ChrX:153297922..153297923 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1314_1315insCGTCACTA (p.Asp439delinsArgHisTer) |
insertion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001253725] |
ChrX:154030549..154030550 [GRCh38] ChrX:153296000..153296001 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1351_1359dup (p.Ala451_Ala453dup) |
duplication |
Rett syndrome [RCV001253646] |
ChrX:154030504..154030505 [GRCh38] ChrX:153295955..153295956 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs) |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001879813]|Syndromic X-linked intellectual disability Lubs type [RCV001251127] |
ChrX:154030423..154030424 [GRCh38] ChrX:153295874..153295875 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NC_000023.11:g.(?_153287263)_(153363189_?)dup |
duplication |
Non-syndromic X-linked intellectual disability [RCV001254853] |
ChrX:153287263..153363189 [GRCh38] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.177_180dup (p.Ser61fs) |
duplication |
Rett syndrome [RCV001251144] |
ChrX:154032439..154032440 [GRCh38] ChrX:153297890..153297891 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr) |
single nucleotide variant |
Rett syndrome [RCV001253106] |
ChrX:154030536 [GRCh38] ChrX:153295987 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.11:g.(?_153287263)_(153363189_?)del |
deletion |
Rett syndrome [RCV001255544] |
ChrX:153287263..153363189 [GRCh38] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153287263)_(153363189_?)dup |
duplication |
Non-syndromic X-linked intellectual disability [RCV001261472] |
ChrX:153287263..153363189 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 |
copy number loss |
not provided [RCV001259012] |
ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 |
copy number gain |
See cases [RCV001263024] |
ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_001110792.2(MECP2):c.799C>G (p.Arg267Gly) |
single nucleotide variant |
Intellectual disability [RCV001257759] |
ChrX:154031065 [GRCh38] ChrX:153296516 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1176dup (p.Pro393fs) |
duplication |
not provided [RCV001268369] |
ChrX:154030687..154030688 [GRCh38] ChrX:153296138..153296139 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1134_1237del (p.His378fs) |
deletion |
not provided [RCV001268383] |
ChrX:154030627..154030730 [GRCh38] ChrX:153296078..153296181 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1490_*12del (p.Val497fs) |
deletion |
not provided [RCV001268134] |
ChrX:154030355..154030374 [GRCh38] ChrX:153295806..153295825 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.245_246insA (p.Ala83fs) |
insertion |
not provided [RCV001268210] |
ChrX:154032374..154032375 [GRCh38] ChrX:153297825..153297826 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.62+1G>C |
single nucleotide variant |
not provided [RCV001268642] |
ChrX:154097603 [GRCh38] ChrX:153363060 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.52_59del (p.Glu18fs) |
deletion |
not provided [RCV001268899] |
ChrX:154097607..154097614 [GRCh38] ChrX:153363064..153363071 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NC_000023.10:g.(?_153287263)_(153363189_?)del |
deletion |
Rett syndrome [RCV001261461] |
ChrX:153287263..153363189 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1080_1125del (p.Ser361fs) |
deletion |
not provided [RCV001268895] |
ChrX:154030739..154030784 [GRCh38] ChrX:153296190..153296235 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 |
copy number gain |
not provided [RCV001260058] |
ChrX:153113943..153624215 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 |
copy number gain |
not provided [RCV001260059] |
ChrX:153135257..153594096 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152815772-153624215) |
copy number gain |
Global developmental delay [RCV002280663] |
ChrX:152815772..153624215 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) |
copy number loss |
Turner syndrome [RCV002280672] |
ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153296089-153296700) |
copy number loss |
Rett syndrome [RCV002280645] |
ChrX:153296089..153296700 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number gain |
46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.1118C>T (p.Pro373Leu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001315815] |
ChrX:154030746 [GRCh38] ChrX:153296197 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 |
copy number gain |
not provided [RCV001281359] |
ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_001110792.2(MECP2):c.465A>G (p.Glu155=) |
single nucleotide variant |
Rett syndrome [RCV001331333] |
ChrX:154031399 [GRCh38] ChrX:153296850 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153295726)_(153298028_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001300465] |
ChrX:153295726..153298028 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.73T>G (p.Ser25Ala) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001339324] |
ChrX:154032547 [GRCh38] ChrX:153297998 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.248C>G (p.Ala83Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001361402] |
ChrX:154032372 [GRCh38] ChrX:153297823 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.399T>G (p.Asp133Glu) |
single nucleotide variant |
not provided [RCV001810713] |
ChrX:154032221 [GRCh38] ChrX:153297672 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.414-10G>A |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001396631] |
ChrX:154031460 [GRCh38] ChrX:153296911 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.753C>T (p.Ala251=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001433133]|not provided [RCV003438794] |
ChrX:154031111 [GRCh38] ChrX:153296562 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.990A>G (p.Glu330=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001433246] |
ChrX:154030874 [GRCh38] ChrX:153296325 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.852G>C (p.Pro284=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001397245] |
ChrX:154031012 [GRCh38] ChrX:153296463 [GRCh37] ChrX:Xq28 |
likely benign |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV001391666] |
ChrX:153128098..153498669 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.920C>G (p.Ser307Cys) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001372043]|not provided [RCV002243162] |
ChrX:154030944 [GRCh38] ChrX:153296395 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.869C>T (p.Ala290Val) |
single nucleotide variant |
MECP2-related condition [RCV003394013]|Severe neonatal-onset encephalopathy with microcephaly [RCV001373177]|not provided [RCV002466670] |
ChrX:154030995 [GRCh38] ChrX:153296446 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NC_000023.10:g.(?_153297634)_(153298028_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001362834] |
ChrX:153297634..153298028 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1209T>A (p.Pro403=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001343850] |
ChrX:154030655 [GRCh38] ChrX:153296106 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.628_645dup (p.Arg210_Thr215dup) |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001326736] |
ChrX:154031218..154031219 [GRCh38] ChrX:153296669..153296670 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.422G>A (p.Gly141Glu) |
single nucleotide variant |
not provided [RCV001269666] |
ChrX:154031442 [GRCh38] ChrX:153296893 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1271T>G (p.Val424Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001345018]|not provided [RCV001587364] |
ChrX:154030593 [GRCh38] ChrX:153296044 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
GRCh38/hg38 Xq28(chrX:153858452-154332213)x2 |
copy number gain |
Chromosome Xq28 duplication syndrome [RCV001375670] |
ChrX:153858452..154332213 [GRCh38] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1108G>T (p.Ala370Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001350453] |
ChrX:154030756 [GRCh38] ChrX:153296207 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1165_1179del (p.Lys389_Pro393del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001299418] |
ChrX:154030685..154030699 [GRCh38] ChrX:153296136..153296150 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.911C>G (p.Ser304Cys) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001294905] |
ChrX:154030953 [GRCh38] ChrX:153296404 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1384T>C (p.Tyr462His) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001347731] |
ChrX:154030480 [GRCh38] ChrX:153295931 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.80A>C (p.Asp27Ala) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001317181] |
ChrX:154032540 [GRCh38] ChrX:153297991 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.88C>T (p.Leu30Phe) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001340158]|not provided [RCV001806131] |
ChrX:154032532 [GRCh38] ChrX:153297983 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1414G>T (p.Asp472Tyr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001306074] |
ChrX:154030450 [GRCh38] ChrX:153295901 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu) |
single nucleotide variant |
Rett syndrome [RCV001328391]|Severe neonatal-onset encephalopathy with microcephaly [RCV001863184] |
ChrX:154031357 [GRCh38] ChrX:153296808 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 |
copy number loss |
not provided [RCV001537933] |
ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.1373C>T (p.Ala458Val) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001306521] |
ChrX:154030491 [GRCh38] ChrX:153295942 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.308G>A (p.Arg103Gln) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001297075] |
ChrX:154032312 [GRCh38] ChrX:153297763 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1489G>C (p.Val497Leu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001299959] |
ChrX:154030375 [GRCh38] ChrX:153295826 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1013C>A (p.Ser338Tyr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001367642] |
ChrX:154030851 [GRCh38] ChrX:153296302 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001110792.2(MECP2):c.63-5800_1271del |
deletion |
Epilepsy [RCV001293380] |
ChrX:154030593..154038357 [GRCh38] ChrX:153296044..153303808 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1207C>A (p.Pro403Thr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001303511]|not provided [RCV003438739] |
ChrX:154030657 [GRCh38] ChrX:153296108 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.905A>G (p.Glu302Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001365623] |
ChrX:154030959 [GRCh38] ChrX:153296410 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1289T>C (p.Met430Thr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001308315]|not provided [RCV003151850] |
ChrX:154030575 [GRCh38] ChrX:153296026 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001110792.2(MECP2):c.1191C>T (p.Pro397=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001398943] |
ChrX:154030673 [GRCh38] ChrX:153296124 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.674dup (p.Glu226fs) |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001384353] |
ChrX:154031189..154031190 [GRCh38] ChrX:153296640..153296641 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.672C>A (p.Val224=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001469606] |
ChrX:154031192 [GRCh38] ChrX:153296643 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_153292375)_(153296122_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001389410] |
ChrX:153292375..153296122 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153357622)_(153363142_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001389411] |
ChrX:153357622..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153294955)_153296040del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001389412] |
|
pathogenic |
NM_001110792.2(MECP2):c.855G>C (p.Gly285=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001495688] |
ChrX:154031009 [GRCh38] ChrX:153296460 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1090_1242del (p.Lys364_Pro414del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001389673] |
ChrX:154030622..154030774 [GRCh38] ChrX:153296073..153296225 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.75A>G (p.Ser25=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001514296] |
ChrX:154032545 [GRCh38] ChrX:153297996 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.1249C>T (p.Pro417Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001462098] |
ChrX:154030615 [GRCh38] ChrX:153296066 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1095G>A (p.Gly365=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001506174] |
ChrX:154030769 [GRCh38] ChrX:153296220 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1371G>C (p.Thr457=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001469102] |
ChrX:154030493 [GRCh38] ChrX:153295944 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1035G>A (p.Gly345=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001469103] |
ChrX:154030829 [GRCh38] ChrX:153296280 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.582A>G (p.Pro194=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001470265] |
ChrX:154031282 [GRCh38] ChrX:153296733 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1476C>T (p.Pro492=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001489990] |
ChrX:154030388 [GRCh38] ChrX:153295839 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1311G>A (p.Glu437=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001403036] |
ChrX:154030553 [GRCh38] ChrX:153296004 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.87C>T (p.Asp29=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001441029] |
ChrX:154032533 [GRCh38] ChrX:153297984 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1059C>T (p.Ser353=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001402445] |
ChrX:154030805 [GRCh38] ChrX:153296256 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.765C>A (p.Thr255=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001412058] |
ChrX:154031099 [GRCh38] ChrX:153296550 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_153296084)_153300925del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001378460] |
|
likely pathogenic |
NM_001110792.2(MECP2):c.398A>T (p.Asp133Val) |
single nucleotide variant |
Rett syndrome [RCV001420143] |
ChrX:154032222 [GRCh38] ChrX:153297673 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1164_1173del (p.Lys389fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001390328] |
ChrX:154030691..154030700 [GRCh38] ChrX:153296142..153296151 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1236C>G (p.Thr412=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001403628] |
ChrX:154030628 [GRCh38] ChrX:153296079 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.984_1023del (p.Lys329fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001386239] |
ChrX:154030841..154030880 [GRCh38] ChrX:153296292..153296331 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1393C>A (p.Arg465=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001442295] |
ChrX:154030471 [GRCh38] ChrX:153295922 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_153295424)_153296139del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001381816] |
|
pathogenic |
NC_000023.10:g.(?_153296038)_153299936del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001381818] |
|
pathogenic |
NC_000023.10:g.(?_153296109)_153302497del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001381819] |
|
pathogenic |
NC_000023.10:g.(?_153296112)_153302496del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001381820] |
|
pathogenic |
NC_000023.10:g.(?_153296119)_153305088del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001381821] |
|
pathogenic |
NC_000023.10:g.(?_153296141)_153303786del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001381822] |
|
pathogenic |
NC_000023.10:g.(?_153296154)_153302832del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001381823] |
|
pathogenic |
NM_001110792.2(MECP2):c.954_962del (p.Lys319_Arg321del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001390995] |
ChrX:154030902..154030910 [GRCh38] ChrX:153296353..153296361 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.74C>G (p.Ser25Ter) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001384305] |
ChrX:154032546 [GRCh38] ChrX:153297997 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.930_958del (p.Glu310fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001382105] |
ChrX:154030906..154030934 [GRCh38] ChrX:153296357..153296385 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1014C>T (p.Ser338=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001411539]|not provided [RCV001546255] |
ChrX:154030850 [GRCh38] ChrX:153296301 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1193_1230del (p.Leu398fs) |
deletion |
not provided [RCV001508973] |
ChrX:154030634..154030671 [GRCh38] ChrX:153296085..153296122 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.917G>A (p.Arg306Gln) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001465292]|not provided [RCV001558098] |
ChrX:154030947 [GRCh38] ChrX:153296398 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1359C>T (p.Ala453=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001516065] |
ChrX:154030505 [GRCh38] ChrX:153295956 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.1102A>G (p.Ser368Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001521418] |
ChrX:154030762 [GRCh38] ChrX:153296213 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.954C>G (p.Arg318=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001459752] |
ChrX:154030910 [GRCh38] ChrX:153296361 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1369A>G (p.Thr457Ala) |
single nucleotide variant |
not provided [RCV001589673] |
ChrX:154030495 [GRCh38] ChrX:153295946 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.192C>G (p.His64Gln) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001480968]|not provided [RCV001576872] |
ChrX:154032428 [GRCh38] ChrX:153297879 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1350C>T (p.Pro450=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001500916] |
ChrX:154030514 [GRCh38] ChrX:153295965 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001513735]|not provided [RCV001724326] |
ChrX:154031277 [GRCh38] ChrX:153296728 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001110792.2(MECP2):c.606C>T (p.Arg202=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001460843] |
ChrX:154031258 [GRCh38] ChrX:153296709 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1171C>T (p.Pro391Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002568044]|Severe neonatal-onset encephalopathy with microcephaly [RCV001523564]|not provided [RCV001562588] |
ChrX:154030693 [GRCh38] ChrX:153296144 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001110792.2(MECP2):c.1185C>G (p.Leu395=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001439235] |
ChrX:154030679 [GRCh38] ChrX:153296130 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.861G>A (p.Val287=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001394360] |
ChrX:154031003 [GRCh38] ChrX:153296454 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.480A>G (p.Thr160=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001417341] |
ChrX:154031384 [GRCh38] ChrX:153296835 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.420G>A (p.Gln140=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001484516] |
ChrX:154031444 [GRCh38] ChrX:153296895 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.483C>A (p.Ser161=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001469001] |
ChrX:154031381 [GRCh38] ChrX:153296832 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.129G>A (p.Val43=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001487746] |
ChrX:154032491 [GRCh38] ChrX:153297942 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.806C>G (p.Ala269Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001513844] |
ChrX:154031058 [GRCh38] ChrX:153296509 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.1303T>C (p.Ser435Pro) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001519493]|not provided [RCV003438858] |
ChrX:154030561 [GRCh38] ChrX:153296012 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.1439G>C (p.Arg480Thr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001512183] |
ChrX:154030425 [GRCh38] ChrX:153295876 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.186C>T (p.Ala62=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001477281] |
ChrX:154032434 [GRCh38] ChrX:153297885 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1119C>T (p.Pro373=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001481724] |
ChrX:154030745 [GRCh38] ChrX:153296196 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.669G>T (p.Arg223Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001471449] |
ChrX:154031195 [GRCh38] ChrX:153296646 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_153295985)_153299903del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001381817] |
|
pathogenic |
NM_001110792.2(MECP2):c.723G>A (p.Ser241=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001402076] |
ChrX:154031141 [GRCh38] ChrX:153296592 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.45A>C (p.Gly15=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001393403] |
ChrX:154097621 [GRCh38] ChrX:153363078 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.813C>A (p.Ala271=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001434762] |
ChrX:154031051 [GRCh38] ChrX:153296502 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1167G>A (p.Lys389=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001434985] |
ChrX:154030697 [GRCh38] ChrX:153296148 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1287G>A (p.Lys429=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001400349] |
ChrX:154030577 [GRCh38] ChrX:153296028 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.998del (p.Lys333fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001386174] |
ChrX:154030866 [GRCh38] ChrX:153296317 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.765_1042del (p.Gln256fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001389999] |
ChrX:154030822..154031099 [GRCh38] ChrX:153296273..153296550 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.231del (p.Glu78fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001390003] |
ChrX:154032389 [GRCh38] ChrX:153297840 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.969G>A (p.Thr323=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001419283] |
ChrX:154030895 [GRCh38] ChrX:153296346 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.549A>G (p.Lys183=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001402738] |
ChrX:154031315 [GRCh38] ChrX:153296766 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.215G>A (p.Gly72Asp) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001378002] |
ChrX:154032405 [GRCh38] ChrX:153297856 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.254_260del (p.Ala85fs) |
deletion |
Rett syndrome [RCV002238614] |
ChrX:154032360..154032366 [GRCh38] ChrX:153297811..153297817 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1116_1117delinsTA (p.Pro373Thr) |
indel |
Severe neonatal-onset encephalopathy with microcephaly [RCV003093918]|not specified [RCV002238615] |
ChrX:154030747..154030748 [GRCh38] ChrX:153296198..153296199 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NC_000023.10:g.(?_152014869)_(155171615_?)del |
deletion |
3-Methylglutaconic aciduria type 2 [RCV003119101]|Adrenoleukodystrophy [RCV003119100]|Creatine transporter deficiency [RCV003119103]|Heterotopia, periventricular, X-linked dominant [RCV003109218]|Spastic paraplegia [RCV003109219]|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102] |
ChrX:152014869..155171615 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152014869)_(153363122_?)dup |
duplication |
Adrenoleukodystrophy [RCV003119105]|not provided [RCV003109220] |
ChrX:152014869..153363122 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records |
NM_001110792.2(MECP2):c.1445A>T (p.Asn482Ile) |
single nucleotide variant |
not provided [RCV001761368] |
ChrX:154030419 [GRCh38] ChrX:153295870 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.337C>A (p.Pro113Thr) |
single nucleotide variant |
not provided [RCV001782431] |
ChrX:154032283 [GRCh38] ChrX:153297734 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.808_1334del (p.Glu270fs) |
deletion |
Rett syndrome [RCV002255242] |
ChrX:154030530..154031056 [GRCh38] ChrX:153295981..153296507 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.1241C>G (p.Pro414Arg) |
single nucleotide variant |
not provided [RCV001777011] |
ChrX:154030623 [GRCh38] ChrX:153296074 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.109C>T (p.Pro37Ser) |
single nucleotide variant |
not provided [RCV001769336] |
ChrX:154032511 [GRCh38] ChrX:153297962 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.242G>T (p.Gly81Val) |
single nucleotide variant |
MECP2-related condition [RCV003416423]|Severe neonatal-onset encephalopathy with microcephaly [RCV002540260]|not provided [RCV001770566] |
ChrX:154032378 [GRCh38] ChrX:153297829 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1209_*6del (p.Glu404fs) |
deletion |
Rett syndrome [RCV001754565] |
ChrX:154030361..154030655 [GRCh38] ChrX:153295812..153296106 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.462C>G (p.Phe154Leu) |
single nucleotide variant |
not provided [RCV001763332] |
ChrX:154031402 [GRCh38] ChrX:153296853 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.853_883del (p.Gly285fs) |
deletion |
not provided [RCV003238388] |
ChrX:154030981..154031011 [GRCh38] ChrX:153296432..153296462 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.824C>G (p.Ala275Gly) |
single nucleotide variant |
not provided [RCV001767011] |
ChrX:154031040 [GRCh38] ChrX:153296491 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.577G>T (p.Ala193Ser) |
single nucleotide variant |
not provided [RCV001773318] |
ChrX:154031287 [GRCh38] ChrX:153296738 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.884C>A (p.Ala295Asp) |
single nucleotide variant |
not provided [RCV001752257] |
ChrX:154030980 [GRCh38] ChrX:153296431 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.642C>T (p.Ala214=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002541241]|not provided [RCV001786261] |
ChrX:154031222 [GRCh38] ChrX:153296673 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1198_1224del (p.Pro400_Ser408del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002544087]|not provided [RCV001767784] |
ChrX:154030640..154030666 [GRCh38] ChrX:153296091..153296117 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1212G>C (p.Glu404Asp) |
single nucleotide variant |
not provided [RCV001794597] |
ChrX:154030652 [GRCh38] ChrX:153296103 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.557A>C (p.Lys186Thr) |
single nucleotide variant |
not provided [RCV001761436] |
ChrX:154031307 [GRCh38] ChrX:153296758 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.635A>C (p.Lys212Thr) |
single nucleotide variant |
not provided [RCV001733302] |
ChrX:154031229 [GRCh38] ChrX:153296680 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer) |
deletion |
Inborn genetic diseases [RCV002538717]|Rett syndrome [RCV001733390] |
ChrX:154030621..154030655 [GRCh38] ChrX:153296072..153296106 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.62+5439T>C |
single nucleotide variant |
not specified [RCV001797909] |
ChrX:154092165 [GRCh38] ChrX:153357623 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1138C>T (p.His380Tyr) |
single nucleotide variant |
MECP2-related condition [RCV003407808]|Rett syndrome [RCV001784168] |
ChrX:154030726 [GRCh38] ChrX:153296177 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.385_388delinsTCCT (p.Ala129_Gly130delinsSerTrp) |
indel |
not provided [RCV001806976] |
ChrX:154032232..154032235 [GRCh38] ChrX:153297683..153297686 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.967A>G (p.Thr323Ala) |
single nucleotide variant |
not provided [RCV001794971] |
ChrX:154030897 [GRCh38] ChrX:153296348 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1151_1154delinsCCCA (p.His384_Ser385delinsProGln) |
indel |
not provided [RCV001757820] |
ChrX:154030710..154030713 [GRCh38] ChrX:153296161..153296164 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002558489]|Rett syndrome [RCV002466274]|Severe neonatal-onset encephalopathy with microcephaly [RCV001928901] |
ChrX:154030927 [GRCh38] ChrX:153296378 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance |
NM_001110792.2(MECP2):c.920C>A (p.Ser307Tyr) |
single nucleotide variant |
not provided [RCV001837675] |
ChrX:154030944 [GRCh38] ChrX:153296395 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.413+5G>A |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002034686]|Syndromic X-linked intellectual disability Lubs type [RCV001825254] |
ChrX:154032202 [GRCh38] ChrX:153297653 [GRCh37] ChrX:Xq28 |
uncertain significance|not provided |
NM_001110792.2(MECP2):c.1179_1190del (p.Leu395_Leu398del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001915381] |
ChrX:154030674..154030685 [GRCh38] ChrX:153296125..153296136 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153295063)_(153296130_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001949660] |
ChrX:153295063..153296130 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152740984-153431748)x2 |
copy number gain |
not provided [RCV001829153] |
ChrX:152740984..153431748 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.140_144del (p.Lys47fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001874032] |
ChrX:154032476..154032480 [GRCh38] ChrX:153297927..153297931 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1030A>G (p.Ser344Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001970775] |
ChrX:154030834 [GRCh38] ChrX:153296285 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153105394-153421839) |
copy number gain |
not specified [RCV002053207] |
ChrX:153105394..153421839 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153347671-153418991) |
copy number gain |
not specified [RCV002053213] |
ChrX:153347671..153418991 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153135263-153594168) |
copy number gain |
not specified [RCV002053209] |
ChrX:153135263..153594168 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153261390-153322230) |
copy number loss |
not specified [RCV002053210] |
ChrX:153261390..153322230 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153277379-153317880) |
copy number loss |
not specified [RCV002053212] |
ChrX:153277379..153317880 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1084_1314del (p.Ser362_Ser438del) |
deletion |
Developmental disorder [RCV001843772] |
ChrX:154030550..154030780 [GRCh38] ChrX:153296001..153296231 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV001834509] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.1141C>T (p.His381Tyr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002021030] |
ChrX:154030723 [GRCh38] ChrX:153296174 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_152986307)_(153593345_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001967054] |
ChrX:152986307..153593345 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.91C>G (p.Gln31Glu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001912577] |
ChrX:154032529 [GRCh38] ChrX:153297980 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153113943-153624020) |
copy number gain |
not specified [RCV002053208] |
ChrX:153113943..153624020 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153288018)_(153296120_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001970181] |
ChrX:153288018..153296120 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1277_1278del (p.Lys426fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001949468] |
ChrX:154030586..154030587 [GRCh38] ChrX:153296037..153296038 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152970475-153524157) |
copy number gain |
not specified [RCV002053204] |
ChrX:152970475..153524157 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153269534-153438781) |
copy number gain |
not specified [RCV002053211] |
ChrX:153269534..153438781 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153296122)_(153316446_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001987607] |
ChrX:153296122..153316446 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1200_1223del (p.Pro401_Ser408del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001945523] |
ChrX:154030641..154030664 [GRCh38] ChrX:153296092..153296115 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1147C>T (p.His383Tyr) |
single nucleotide variant |
Syndromic X-linked intellectual disability Lubs type [RCV001843411] |
ChrX:154030717 [GRCh38] ChrX:153296168 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153294907)_(153296120_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002002295] |
ChrX:153294907..153296120 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1120_1252del (p.Pro374fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001913795] |
ChrX:154030612..154030744 [GRCh38] ChrX:153296063..153296195 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
not provided [RCV001829212] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.826A>G (p.Ile276Val) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001872801] |
ChrX:154031038 [GRCh38] ChrX:153296489 [GRCh37] ChrX:Xq28 |
uncertain significance |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV001839062] |
ChrX:140888048..154656872 [GRCh38] ChrX:Xq27.1-28 |
pathogenic |
NM_001110792.2(MECP2):c.406T>G (p.Leu136Val) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002006896] |
ChrX:154032214 [GRCh38] ChrX:153297665 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.118T>C (p.Phe40Leu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001985303] |
ChrX:154032502 [GRCh38] ChrX:153297953 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153347671-153421839) |
copy number gain |
not specified [RCV002053214] |
ChrX:153347671..153421839 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1143_1145del (p.His384del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001986360] |
ChrX:154030719..154030721 [GRCh38] ChrX:153296170..153296172 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.92A>C (p.Gln31Pro) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001872798] |
ChrX:154032528 [GRCh38] ChrX:153297979 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.56A>G (p.Glu19Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001913269] |
ChrX:154097610 [GRCh38] ChrX:153363067 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.62+3G>C |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001984368] |
ChrX:154097601 [GRCh38] ChrX:153363058 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.40G>A (p.Gly14Arg) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001889792] |
ChrX:154097626 [GRCh38] ChrX:153363083 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1199del (p.Pro400fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001912904]|not provided [RCV003228017] |
ChrX:154030665 [GRCh38] ChrX:153296116 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153093501-153792322)x2 |
copy number gain |
not provided [RCV001834439] |
ChrX:153093501..153792322 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1180dup (p.Leu394fs) |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001943964] |
ChrX:154030683..154030684 [GRCh38] ChrX:153296134..153296135 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.311G>A (p.Gly104Glu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001941309] |
ChrX:154032309 [GRCh38] ChrX:153297760 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1172_1215del (p.Pro391fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001954644] |
ChrX:154030649..154030692 [GRCh38] ChrX:153296100..153296143 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.573_574insT (p.Lys192Ter) |
insertion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001897006] |
ChrX:154031290..154031291 [GRCh38] ChrX:153296741..153296742 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.509C>A (p.Thr170Lys) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002010858] |
ChrX:154031355 [GRCh38] ChrX:153296806 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1170_1183del (p.Val392fs) |
deletion |
Neurodevelopmental delay [RCV002274236]|Severe neonatal-onset encephalopathy with microcephaly [RCV002037861] |
ChrX:154030681..154030694 [GRCh38] ChrX:153296132..153296145 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.878C>G (p.Ala293Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002039175] |
ChrX:154030986 [GRCh38] ChrX:153296437 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.358C>G (p.Leu120Val) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001915903] |
ChrX:154032262 [GRCh38] ChrX:153297713 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.970dup (p.Val324fs) |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001939480] |
ChrX:154030893..154030894 [GRCh38] ChrX:153296344..153296345 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153357622)_(153363122_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001942931] |
ChrX:153357622..153363122 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153295526)_(153296087_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002037930] |
ChrX:153295526..153296087 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153295580)_(153296752_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001963211] |
ChrX:153295580..153296752 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153277310)_(153298028_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001938599] |
ChrX:153277310..153298028 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.724C>G (p.Pro242Ala) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001900325] |
ChrX:154031140 [GRCh38] ChrX:153296591 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.529C>T (p.Pro177Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002015021] |
ChrX:154031335 [GRCh38] ChrX:153296786 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.898_1014del (p.Val300_Ser338del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001991153] |
ChrX:154030850..154030966 [GRCh38] ChrX:153296301..153296417 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.671T>A (p.Val224Asp) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001972893]|not provided [RCV002280200] |
ChrX:154031193 [GRCh38] ChrX:153296644 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001936687]|not provided [RCV003134273]|not specified [RCV002246606] |
ChrX:154031140 [GRCh38] ChrX:153296591 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1277A>G (p.Lys426Arg) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001882010] |
ChrX:154030587 [GRCh38] ChrX:153296038 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NC_000023.10:g.(?_152482081)_(153416424_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001953905] |
ChrX:152482081..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1268dup (p.Ser423fs) |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001972468] |
ChrX:154030595..154030596 [GRCh38] ChrX:153296046..153296047 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1191_1205del (p.Leu398_Pro402del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002048210] |
ChrX:154030659..154030673 [GRCh38] ChrX:153296110..153296124 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.283C>T (p.Gln95Ter) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001939126] |
ChrX:154032337 [GRCh38] ChrX:153297788 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.93G>C (p.Gln31His) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001883929] |
ChrX:154032527 [GRCh38] ChrX:153297978 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.798_837del (p.Lys266fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001925264] |
ChrX:154031027..154031066 [GRCh38] ChrX:153296478..153296517 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1058G>A (p.Ser353Asn) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001867609] |
ChrX:154030806 [GRCh38] ChrX:153296257 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NC_000023.10:g.(?_153296108)_(153301856_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001997197] |
ChrX:153296108..153301856 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.463G>A (p.Glu155Lys) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001981972] |
ChrX:154031401 [GRCh38] ChrX:153296852 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.356A>G (p.Lys119Arg) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001906666] |
ChrX:154032264 [GRCh38] ChrX:153297715 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1201_1237del (p.Pro401fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001878148] |
ChrX:154030627..154030663 [GRCh38] ChrX:153296078..153296114 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1354G>C (p.Val452Leu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001918552] |
ChrX:154030510 [GRCh38] ChrX:153295961 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.282A>G (p.Lys94=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002033464] |
ChrX:154032338 [GRCh38] ChrX:153297789 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.464A>C (p.Glu155Ala) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001998645] |
ChrX:154031400 [GRCh38] ChrX:153296851 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1075A>C (p.Lys359Gln) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001999234] |
ChrX:154030789 [GRCh38] ChrX:153296240 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153295885)_(153296418_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001974998] |
ChrX:153295885..153296418 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1020_1021insA (p.Gly341fs) |
insertion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002035425] |
ChrX:154030843..154030844 [GRCh38] ChrX:153296294..153296295 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.43G>A (p.Gly15Arg) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001992132] |
ChrX:154097623 [GRCh38] ChrX:153363080 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.11C>T (p.Ala4Val) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001923949] |
ChrX:154097655 [GRCh38] ChrX:153363112 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1182_1229del (p.Leu395_Asp410del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001981776] |
ChrX:154030635..154030682 [GRCh38] ChrX:153296086..153296133 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1279GAG[1] (p.Glu428del) |
microsatellite |
Severe neonatal-onset encephalopathy with microcephaly [RCV001980972] |
ChrX:154030580..154030582 [GRCh38] ChrX:153296031..153296033 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.536G>C (p.Arg179Pro) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001980568] |
ChrX:154031328 [GRCh38] ChrX:153296779 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1328dup (p.Glu444fs) |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001956409] |
ChrX:154030535..154030536 [GRCh38] ChrX:153295986..153295987 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.29G>C (p.Ser10Thr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002028145] |
ChrX:154097637 [GRCh38] ChrX:153363094 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153296109)_(153297633_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001875292] |
ChrX:153296109..153297633 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1200_1224del (p.Pro401fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001951110]|not provided [RCV002290818] |
ChrX:154030640..154030664 [GRCh38] ChrX:153296091..153296115 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1179_1186del (p.Leu394fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001993276] |
ChrX:154030678..154030685 [GRCh38] ChrX:153296129..153296136 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.68A>G (p.Glu23Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002046520]|not provided [RCV003438912] |
ChrX:154032552 [GRCh38] ChrX:153298003 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.477C>G (p.Asp159Glu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV001957206] |
ChrX:154031387 [GRCh38] ChrX:153296838 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.62+15C>T |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002073453] |
ChrX:154097589 [GRCh38] ChrX:153363046 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.248C>A (p.Ala83Asp) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002109086] |
ChrX:154032372 [GRCh38] ChrX:153297823 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1302C>G (p.Gly434=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002107879] |
ChrX:154030562 [GRCh38] ChrX:153296013 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.888A>G (p.Lys296=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002192314] |
ChrX:154030976 [GRCh38] ChrX:153296427 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.1215C>G (p.Pro405=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002126302] |
ChrX:154030649 [GRCh38] ChrX:153296100 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.372A>G (p.Lys124=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002071324] |
ChrX:154032248 [GRCh38] ChrX:153297699 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.434G>C (p.Arg145Pro) |
single nucleotide variant |
Rett syndrome [RCV002226590] |
ChrX:154031430 [GRCh38] ChrX:153296881 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.673C>G (p.Leu225Val) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003089209]|not provided [RCV002226170] |
ChrX:154031191 [GRCh38] ChrX:153296642 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001110792.2(MECP2):c.1419T>C (p.Ile473=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002197427] |
ChrX:154030445 [GRCh38] ChrX:153295896 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1292C>T (p.Pro431Leu) |
single nucleotide variant |
See cases [RCV002252770]|Severe neonatal-onset encephalopathy with microcephaly [RCV002133800] |
ChrX:154030572 [GRCh38] ChrX:153296023 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001110792.2(MECP2):c.631C>T (p.Pro211Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002149391] |
ChrX:154031233 [GRCh38] ChrX:153296684 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.672C>T (p.Val224=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002153025] |
ChrX:154031192 [GRCh38] ChrX:153296643 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1317C>T (p.Asp439=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002116087] |
ChrX:154030547 [GRCh38] ChrX:153295998 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.1131G>A (p.Glu377=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002212387] |
ChrX:154030733 [GRCh38] ChrX:153296184 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.1240C>T (p.Pro414Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002193977] |
ChrX:154030624 [GRCh38] ChrX:153296075 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.573C>G (p.Pro191=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002115713] |
ChrX:154031291 [GRCh38] ChrX:153296742 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.759A>G (p.Thr253=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002079352]|not provided [RCV003438959] |
ChrX:154031105 [GRCh38] ChrX:153296556 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1137C>G (p.His379Gln) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002115773] |
ChrX:154030727 [GRCh38] ChrX:153296178 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.1452G>C (p.Glu484Asp) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002195782] |
ChrX:154030412 [GRCh38] ChrX:153295863 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.872C>G (p.Ala291Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002117417] |
ChrX:154030992 [GRCh38] ChrX:153296443 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.62+11C>T |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002076606] |
ChrX:154097593 [GRCh38] ChrX:153363050 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.435C>T (p.Arg145=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002172387] |
ChrX:154031429 [GRCh38] ChrX:153296880 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.96C>A (p.Gly32=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002079373] |
ChrX:154032524 [GRCh38] ChrX:153297975 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.413+13A>C |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002215582] |
ChrX:154032194 [GRCh38] ChrX:153297645 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1323C>T (p.Cys441=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002113151] |
ChrX:154030541 [GRCh38] ChrX:153295992 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.786C>G (p.Arg262=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002194538]|not specified [RCV003388103] |
ChrX:154031078 [GRCh38] ChrX:153296529 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.459C>T (p.Tyr153=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002201415] |
ChrX:154031405 [GRCh38] ChrX:153296856 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.984C>T (p.Val328=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002218281] |
ChrX:154030880 [GRCh38] ChrX:153296331 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1362C>G (p.Thr454=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002197955] |
ChrX:154030502 [GRCh38] ChrX:153295953 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.997A>G (p.Lys333Glu) |
single nucleotide variant |
not specified [RCV002247969] |
ChrX:154030867 [GRCh38] ChrX:153296318 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.414-18_414-15del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002123982] |
ChrX:154031465..154031468 [GRCh38] ChrX:153296916..153296919 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.600G>A (p.Arg200=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002163545] |
ChrX:154031264 [GRCh38] ChrX:153296715 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.484C>T (p.Leu162=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002216944] |
ChrX:154031380 [GRCh38] ChrX:153296831 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.279C>G (p.Pro93=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002155017] |
ChrX:154032341 [GRCh38] ChrX:153297792 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(153296026_153296261)_(153298009_153357641)del |
deletion |
Rett syndrome [RCV002223044] |
ChrX:153296261..153298009 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1055A>G (p.Lys352Arg) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002160684] |
ChrX:154030809 [GRCh38] ChrX:153296260 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.62+10A>T |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002154599] |
ChrX:154097594 [GRCh38] ChrX:153363051 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1193_1204del (p.Leu398_Pro401del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002099186] |
ChrX:154030660..154030671 [GRCh38] ChrX:153296111..153296122 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1109C>T (p.Ala370Val) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002118822] |
ChrX:154030755 [GRCh38] ChrX:153296206 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.531C>G (p.Pro177=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002203264] |
ChrX:154031333 [GRCh38] ChrX:153296784 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.114C>G (p.Leu38=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002181433] |
ChrX:154032506 [GRCh38] ChrX:153297957 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1341G>A (p.Lys447=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002156770] |
ChrX:154030523 [GRCh38] ChrX:153295974 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1156G>C (p.Glu386Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003089069]|Severe neonatal-onset encephalopathy with microcephaly [RCV002204014] |
ChrX:154030708 [GRCh38] ChrX:153296159 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001110792.2(MECP2):c.63-8C>T |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002155256] |
ChrX:154032565 [GRCh38] ChrX:153298016 [GRCh37] ChrX:Xq28 |
likely benign |
NM_004992.4(MECP2):c.12G>C (p.Gly4=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002219976] |
ChrX:154092198 [GRCh38] ChrX:153357656 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.682A>G (p.Ser228Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002157216] |
ChrX:154031182 [GRCh38] ChrX:153296633 [GRCh37] ChrX:Xq28 |
benign |
NC_000023.10:g.(?_153292262)_(153297628_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV003113630] |
ChrX:153292262..153297628 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153195397)_(153642547_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV003113631] |
ChrX:153195397..153642547 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153295818)_(153298028_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV003113632] |
ChrX:153295818..153298028 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153279389)_(153296228_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV003113633] |
ChrX:153279389..153296228 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153285725)_(153296182_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV003113634] |
ChrX:153285725..153296182 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153292923)_(153296117_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV003113635] |
ChrX:153292923..153296117 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153295250)_(153296129_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV003113636] |
ChrX:153295250..153296129 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153296086)_(153297264_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV003113637] |
ChrX:153296086..153297264 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153295412)_(153306710_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV003113638] |
ChrX:153295412..153306710 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153296084)_(153338974_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV003113639] |
ChrX:153296084..153338974 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153296091)_(153303781_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV003113640] |
ChrX:153296091..153303781 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.273C>G (p.Ala91=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003117112] |
ChrX:154032347 [GRCh38] ChrX:153297798 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_153296093)_(153303797_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV003116282] |
ChrX:153296093..153303797 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153296231)_(153303837_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV003116284] |
ChrX:153296231..153303837 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153296339)_(153306264_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV003116285] |
ChrX:153296339..153306264 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153357622)_(153664237_?)dup |
duplication |
X-linked Emery-Dreifuss muscular dystrophy [RCV003119323] |
ChrX:153357622..153664237 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153001546)_(154563736_?)dup |
duplication |
Adrenoleukodystrophy [RCV003119108] |
ChrX:153001546..154563736 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.838C>A (p.Arg280=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003121722] |
ChrX:154031026 [GRCh38] ChrX:153296477 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1451_1452dup (p.Glu485fs) |
microsatellite |
not provided [RCV003327954] |
ChrX:154030411..154030412 [GRCh38] ChrX:153295862..153295863 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1402G>T (p.Gly468Ter) |
single nucleotide variant |
Rett syndrome [RCV003152914] |
ChrX:154030462 [GRCh38] ChrX:153295913 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1200_1249delinsCTGAGCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Pro401_Pro417delinsTer) |
indel |
Rett syndrome [RCV003153040] |
ChrX:154030615..154030664 [GRCh38] ChrX:153296066..153296115 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1072A>C (p.Ser358Arg) |
single nucleotide variant |
Rett syndrome [RCV002226994] |
ChrX:154030792 [GRCh38] ChrX:153296243 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002247744] |
ChrX:154030617..154032283 [GRCh38] ChrX:153296068..153297734 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.803A>G (p.Lys268Arg) |
single nucleotide variant |
not specified [RCV002247970] |
ChrX:154031061 [GRCh38] ChrX:153296512 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.946AAG[1] (p.Lys317del) |
microsatellite |
X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002250106] |
ChrX:154030913..154030915 [GRCh38] ChrX:153296364..153296366 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.642del (p.Thr215fs) |
deletion |
X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002250107] |
ChrX:154031222 [GRCh38] ChrX:153296673 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.618dup (p.Gly207fs) |
duplication |
X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002250109] |
ChrX:154031245..154031246 [GRCh38] ChrX:153296696..153296697 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.572C>T (p.Pro191Leu) |
single nucleotide variant |
not provided [RCV003156470] |
ChrX:154031292 [GRCh38] ChrX:153296743 [GRCh37] ChrX:Xq28 |
uncertain significance |
Single allele |
deletion |
Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] |
ChrX:153427468..156004919 [GRCh38] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.380G>A (p.Arg127His) |
single nucleotide variant |
not provided [RCV003235858] |
ChrX:154032240 [GRCh38] ChrX:153297691 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153295818-153298008) |
copy number loss |
Rett syndrome [RCV003236708] |
ChrX:153295818..153298008 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1240_1241insT (p.Pro414fs) |
insertion |
MECP2-related condition [RCV003426373]|Neurodevelopmental delay [RCV002274432] |
ChrX:154030623..154030624 [GRCh38] ChrX:153296074..153296075 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1097_1098del (p.Arg366fs) |
microsatellite |
Neurodevelopmental delay [RCV002274433] |
ChrX:154030766..154030767 [GRCh38] ChrX:153296217..153296218 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1193_1242del (p.Leu398fs) |
deletion |
Neurodevelopmental delay [RCV002274441] |
ChrX:154030622..154030671 [GRCh38] ChrX:153296073..153296122 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1171_1199del (p.Pro391fs) |
deletion |
not provided [RCV002293237] |
ChrX:154030665..154030693 [GRCh38] ChrX:153296116..153296144 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1195_1202del (p.Pro399fs) |
deletion |
Neurodevelopmental delay [RCV002274416] |
ChrX:154030662..154030669 [GRCh38] ChrX:153296113..153296120 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 |
copy number loss |
See cases [RCV002292203] |
ChrX:142401540..155233731 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
NM_001110792.2(MECP2):c.76G>A (p.Glu26Lys) |
single nucleotide variant |
not provided [RCV002274717] |
ChrX:154032544 [GRCh38] ChrX:153297995 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153287263)_(153298009_153357641)del |
deletion |
Rett syndrome [RCV003236543] |
ChrX:153287263..153298009 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1412A>G (p.Lys471Arg) |
single nucleotide variant |
not provided [RCV002265363] |
ChrX:154030452 [GRCh38] ChrX:153295903 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1337C>G (p.Ala446Gly) |
single nucleotide variant |
not provided [RCV002267419] |
ChrX:154030527 [GRCh38] ChrX:153295978 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1218G>C (p.Glu406Asp) |
single nucleotide variant |
not provided [RCV002293236] |
ChrX:154030646 [GRCh38] ChrX:153296097 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1143_1234del (p.His382fs) |
deletion |
Rett syndrome [RCV002289199] |
ChrX:154030630..154030721 [GRCh38] ChrX:153296081..153296172 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 |
copy number loss |
See cases [RCV002286357] |
ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 |
copy number gain |
Klinefelter syndrome [RCV002282732] |
ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001110792.2(MECP2):c.1197_1252del (p.Pro400fs) |
deletion |
Inborn genetic diseases [RCV002366399] |
ChrX:154030612..154030667 [GRCh38] ChrX:153296063..153296118 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.806C>A (p.Ala269Asp) |
single nucleotide variant |
not provided [RCV002469464]|not specified [RCV002283402] |
ChrX:154031058 [GRCh38] ChrX:153296509 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1143_1192delinsCCCCCG (p.His382fs) |
indel |
Inborn genetic diseases [RCV002437188] |
ChrX:154030672..154030721 [GRCh38] ChrX:153296123..153296172 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1174_1191del (p.Val392_Pro397del) |
deletion |
not provided [RCV002285891] |
ChrX:154030673..154030690 [GRCh38] ChrX:153296124..153296141 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153282944-153681801)x3 |
copy number gain |
not provided [RCV002473744] |
ChrX:153282944..153681801 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 |
copy number loss |
not provided [RCV002474567] |
ChrX:124749464..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
NM_001110792.2(MECP2):c.248C>T (p.Ala83Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002859257]|not provided [RCV003135248] |
ChrX:154032372 [GRCh38] ChrX:153297823 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.550C>G (p.Pro184Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002338247] |
ChrX:154031314 [GRCh38] ChrX:153296765 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1111T>G (p.Ser371Ala) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002304427] |
ChrX:154030753 [GRCh38] ChrX:153296204 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.275C>T (p.Ser92Phe) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002304683]|not provided [RCV003438994] |
ChrX:154032345 [GRCh38] ChrX:153297796 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.856A>G (p.Ser286Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002304909] |
ChrX:154031008 [GRCh38] ChrX:153296459 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.484C>G (p.Leu162Val) |
single nucleotide variant |
not provided [RCV002306373] |
ChrX:154031380 [GRCh38] ChrX:153296831 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1222_1231del (p.Ser408fs) |
deletion |
Rett syndrome [RCV002306442] |
ChrX:154030633..154030642 [GRCh38] ChrX:153296084..153296093 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1195_1231delinsAG (p.Pro399fs) |
indel |
Rett syndrome [RCV002306443] |
ChrX:154030633..154030669 [GRCh38] ChrX:153296084..153296120 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1165_1264del (p.Lys389fs) |
deletion |
Inborn genetic diseases [RCV002325867] |
ChrX:154030600..154030699 [GRCh38] ChrX:153296051..153296150 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1095_1226delinsACTCTGAGTGGTGGTGATGGTGGT (p.Arg366_Glu409delinsLeuTer) |
indel |
Inborn genetic diseases [RCV002401497] |
ChrX:154030638..154030769 [GRCh38] ChrX:153296089..153296220 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.26C>G (p.Pro9Arg) |
single nucleotide variant |
not provided [RCV002301001] |
ChrX:154097640 [GRCh38] ChrX:153363097 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.580C>T (p.Pro194Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002294928]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002510602] |
ChrX:154031284 [GRCh38] ChrX:153296735 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.978C>G (p.Ile326Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002443416] |
ChrX:154030886 [GRCh38] ChrX:153296337 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1405G>A (p.Glu469Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002383653] |
ChrX:154030459 [GRCh38] ChrX:153295910 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.787_889del (p.Pro263fs) |
deletion |
Inborn genetic diseases [RCV002393778] |
ChrX:154030975..154031077 [GRCh38] ChrX:153296426..153296528 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.9C>T (p.Ala3=) |
single nucleotide variant |
Inborn genetic diseases [RCV002383143]|not provided [RCV003439012] |
ChrX:154097657 [GRCh38] ChrX:153363114 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1203_1231del (p.Pro402fs) |
deletion |
Inborn genetic diseases [RCV002333330] |
ChrX:154030633..154030661 [GRCh38] ChrX:153296084..153296112 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.941_1168delinsGTACTTCTTGATGGGGC (p.Pro314_Ala390delinsArgThrSerTer) |
indel |
Inborn genetic diseases [RCV002378504] |
ChrX:154030696..154030923 [GRCh38] ChrX:153296147..153296374 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.268dup (p.Ser90fs) |
duplication |
Rett syndrome [RCV002306441] |
ChrX:154032351..154032352 [GRCh38] ChrX:153297802..153297803 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.842dup (p.Arg282fs) |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV003013849] |
ChrX:154031021..154031022 [GRCh38] ChrX:153296472..153296473 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.896C>A (p.Ala299Asp) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003014134] |
ChrX:154030968 [GRCh38] ChrX:153296419 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1119C>A (p.Pro373=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002820035] |
ChrX:154030745 [GRCh38] ChrX:153296196 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.86_94del (p.Asp29_Gln31del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV003015066] |
ChrX:154032526..154032534 [GRCh38] ChrX:153297977..153297985 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1152_1155del (p.His384fs) |
deletion |
Syndromic X-linked intellectual disability Lubs type [RCV002463404] |
ChrX:154030709..154030712 [GRCh38] ChrX:153296160..153296163 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.814_829del (p.Asp272fs) |
deletion |
not provided [RCV002481159] |
ChrX:154031035..154031050 [GRCh38] ChrX:153296486..153296501 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1133_1231del (p.His378_Asp410del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002815663] |
ChrX:154030633..154030731 [GRCh38] ChrX:153296084..153296182 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1163_1233del (p.Pro388fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002819725] |
ChrX:154030631..154030701 [GRCh38] ChrX:153296082..153296152 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.99C>T (p.Leu33=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002843718] |
ChrX:154032521 [GRCh38] ChrX:153297972 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.369G>A (p.Arg123=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003016395] |
ChrX:154032251 [GRCh38] ChrX:153297702 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1242_1244del (p.Pro415del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002843564] |
ChrX:154030620..154030622 [GRCh38] ChrX:153296071..153296073 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1140C>G (p.His380Gln) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002995831] |
ChrX:154030724 [GRCh38] ChrX:153296175 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.891G>C (p.Lys297Asn) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003032367] |
ChrX:154030973 [GRCh38] ChrX:153296424 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1029G>C (p.Lys343Asn) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003015843] |
ChrX:154030835 [GRCh38] ChrX:153296286 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1205C>T (p.Pro402Leu) |
single nucleotide variant |
Rett syndrome [RCV002510622] |
ChrX:154030659 [GRCh38] ChrX:153296110 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.696C>G (p.Leu232=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002995758] |
ChrX:154031168 [GRCh38] ChrX:153296619 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1331A>G (p.Glu444Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003015797] |
ChrX:154030533 [GRCh38] ChrX:153295984 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.62+8G>A |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002991458] |
ChrX:154097596 [GRCh38] ChrX:153363053 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1190_1269del (p.Pro397fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002819274] |
ChrX:154030595..154030674 [GRCh38] ChrX:153296046..153296125 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1136_1215del (p.His379fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002837943] |
ChrX:154030649..154030728 [GRCh38] ChrX:153296100..153296179 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.908dup (p.Ser304fs) |
duplication |
Inborn genetic diseases [RCV002732481] |
ChrX:154030955..154030956 [GRCh38] ChrX:153296406..153296407 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1122C>A (p.Pro374=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003073824] |
ChrX:154030742 [GRCh38] ChrX:153296193 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.510G>T (p.Thr170=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002843206] |
ChrX:154031354 [GRCh38] ChrX:153296805 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.782A>G (p.Lys261Arg) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003033813] |
ChrX:154031082 [GRCh38] ChrX:153296533 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1254G>A (p.Gln418=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003002932] |
ChrX:154030610 [GRCh38] ChrX:153296061 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1192_1202del (p.Leu398fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002889745] |
ChrX:154030662..154030672 [GRCh38] ChrX:153296113..153296123 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1196_1275del (p.Pro399fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV003018989] |
ChrX:154030589..154030668 [GRCh38] ChrX:153296040..153296119 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1199_1204delinsTCAGGTATAT (p.Pro400fs) |
indel |
Severe neonatal-onset encephalopathy with microcephaly [RCV002871483] |
ChrX:154030660..154030665 [GRCh38] ChrX:153296111..153296116 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.42A>C (p.Gly14=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002572166] |
ChrX:154097624 [GRCh38] ChrX:153363081 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.438T>C (p.Ser146=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002825298] |
ChrX:154031426 [GRCh38] ChrX:153296877 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1243C>T (p.Pro415Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003054128]|not provided [RCV003319534] |
ChrX:154030621 [GRCh38] ChrX:153296072 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.515C>A (p.Thr172Asn) |
single nucleotide variant |
X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002795901] |
ChrX:154031349 [GRCh38] ChrX:153296800 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.969G>C (p.Thr323=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002998845] |
ChrX:154030895 [GRCh38] ChrX:153296346 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1377A>C (p.Ala459=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002889205] |
ChrX:154030487 [GRCh38] ChrX:153295938 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.837A>G (p.Lys279=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002760311] |
ChrX:154031027 [GRCh38] ChrX:153296478 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1100G>A (p.Ser367Asn) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002948425] |
ChrX:154030764 [GRCh38] ChrX:153296215 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1213_1226del (p.Pro405fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002868019] |
ChrX:154030638..154030651 [GRCh38] ChrX:153296089..153296102 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1167G>C (p.Lys389Asn) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002695753] |
ChrX:154030697 [GRCh38] ChrX:153296148 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.136G>T (p.Asp46Tyr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003020611] |
ChrX:154032484 [GRCh38] ChrX:153297935 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1222_1313del (p.Ser408fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002913408] |
ChrX:154030551..154030642 [GRCh38] ChrX:153296002..153296093 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1267_*76del (p.Val424fs) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002870897] |
ChrX:154030291..154030597 [GRCh38] ChrX:153295742..153296048 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1181_1201del (p.Leu394_Pro400del) |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV003055202] |
ChrX:154030663..154030683 [GRCh38] ChrX:153296114..153296134 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.414-20C>T |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002957810] |
ChrX:154031470 [GRCh38] ChrX:153296921 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.427G>C (p.Ala143Pro) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002876235] |
ChrX:154031437 [GRCh38] ChrX:153296888 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.414-18_414-17insA |
insertion |
Severe neonatal-onset encephalopathy with microcephaly [RCV002575027] |
ChrX:154031467..154031468 [GRCh38] ChrX:153296918..153296919 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.441A>C (p.Lys147Asn) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002852039] |
ChrX:154031423 [GRCh38] ChrX:153296874 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.785_788dup (p.Gly264fs) |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV002851902] |
ChrX:154031075..154031076 [GRCh38] ChrX:153296526..153296527 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1078_1248delinsT (p.Glu360fs) |
indel |
Severe neonatal-onset encephalopathy with microcephaly [RCV003055826] |
ChrX:154030616..154030786 [GRCh38] ChrX:153296067..153296237 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.491_1199delinsTGCGT (p.Pro164fs) |
indel |
Severe neonatal-onset encephalopathy with microcephaly [RCV002852605] |
ChrX:154030665..154031373 [GRCh38] ChrX:153296116..153296824 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1080G>C (p.Glu360Asp) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002825728] |
ChrX:154030784 [GRCh38] ChrX:153296235 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1392C>A (p.His464Gln) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002851411] |
ChrX:154030472 [GRCh38] ChrX:153295923 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1020C>G (p.Leu340=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002985623] |
ChrX:154030844 [GRCh38] ChrX:153296295 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.800G>C (p.Arg267Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002697774]|not provided [RCV003314754] |
ChrX:154031064 [GRCh38] ChrX:153296515 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.414-5C>T |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003057035] |
ChrX:154031455 [GRCh38] ChrX:153296906 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.214G>A (p.Gly72Ser) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003023622] |
ChrX:154032406 [GRCh38] ChrX:153297857 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.490C>A (p.Pro164Thr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002894195] |
ChrX:154031374 [GRCh38] ChrX:153296825 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.414-16C>T |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002601649] |
ChrX:154031466 [GRCh38] ChrX:153296917 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.509C>G (p.Thr170Arg) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003048506] |
ChrX:154031355 [GRCh38] ChrX:153296806 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.139A>G (p.Lys47Glu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003063909] |
ChrX:154032481 [GRCh38] ChrX:153297932 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.1189_*1302delinsTCCCG (p.Pro397fs) |
indel |
Inborn genetic diseases [RCV002702369] |
ChrX:154029065..154030675 [GRCh38] ChrX:153294516..153296126 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.37G>C (p.Gly13Arg) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002876994] |
ChrX:154097629 [GRCh38] ChrX:153363086 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1423T>C (p.Ser475Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002670075] |
ChrX:154030441 [GRCh38] ChrX:153295892 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1192dup (p.Leu398fs) |
duplication |
Developmental disorder [RCV003126264]|Severe neonatal-onset encephalopathy with microcephaly [RCV003008535] |
ChrX:154030671..154030672 [GRCh38] ChrX:153296122..153296123 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001110792.2(MECP2):c.561G>A (p.Lys187=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002833230] |
ChrX:154031303 [GRCh38] ChrX:153296754 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.413+17C>T |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002628140] |
ChrX:154032190 [GRCh38] ChrX:153297641 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.62+18G>A |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002597715] |
ChrX:154097586 [GRCh38] ChrX:153363043 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.748G>T (p.Gly250Trp) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003030517] |
ChrX:154031116 [GRCh38] ChrX:153296567 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.414-8C>A |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003029994] |
ChrX:154031458 [GRCh38] ChrX:153296909 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.6C>T (p.Ala2=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002877485] |
ChrX:154097660 [GRCh38] ChrX:153363117 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.15C>T (p.Ala5=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002937731] |
ChrX:154097651 [GRCh38] ChrX:153363108 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.934G>C (p.Val312Leu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002806882] |
ChrX:154030930 [GRCh38] ChrX:153296381 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.589G>T (p.Gly197Cys) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003027825] |
ChrX:154031275 [GRCh38] ChrX:153296726 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.631C>A (p.Pro211Thr) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002604799]|not specified [RCV003230754] |
ChrX:154031233 [GRCh38] ChrX:153296684 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001110792.2(MECP2):c.413+15C>G |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002676694] |
ChrX:154032192 [GRCh38] ChrX:153297643 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.413+20A>G |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003032156] |
ChrX:154032187 [GRCh38] ChrX:153297638 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.795G>A (p.Arg265=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003068440] |
ChrX:154031069 [GRCh38] ChrX:153296520 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.634A>G (p.Lys212Glu) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003066412] |
ChrX:154031230 [GRCh38] ChrX:153296681 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1075_1300delinsCCAAAGGCCCCCGTGCCACT (p.Lys359fs) |
indel |
Severe neonatal-onset encephalopathy with microcephaly [RCV002942926] |
ChrX:154030564..154030789 [GRCh38] ChrX:153296015..153296240 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.932_936delinsGCCCGAGAG (p.Thr311fs) |
indel |
Rett syndrome [RCV003149124] |
ChrX:154030928..154030932 [GRCh38] ChrX:153296379..153296383 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.654T>C (p.Gly218=) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002607252] |
ChrX:154031210 [GRCh38] ChrX:153296661 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.562C>G (p.Pro188Ala) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV002586816] |
ChrX:154031302 [GRCh38] ChrX:153296753 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.824C>T (p.Ala275Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002678637] |
ChrX:154031040 [GRCh38] ChrX:153296491 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1450GAG[3] (p.Glu485_Pro486insGlu) |
microsatellite |
not provided [RCV003132619] |
ChrX:154030408..154030409 [GRCh38] ChrX:153295859..153295860 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.599G>A (p.Arg200Gln) |
single nucleotide variant |
not provided [RCV003132621] |
ChrX:154031265 [GRCh38] ChrX:153296716 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1199_1203delinsTC (p.Pro400_Pro401delinsLeu) |
indel |
not provided [RCV003132620] |
ChrX:154030661..154030665 [GRCh38] ChrX:153296112..153296116 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.386C>G (p.Ala129Gly) |
single nucleotide variant |
Rett syndrome [RCV003155620] |
ChrX:154032234 [GRCh38] ChrX:153297685 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.63-3C>G |
single nucleotide variant |
not provided [RCV003131568] |
ChrX:154032560 [GRCh38] ChrX:153298011 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1382A>G (p.Lys461Arg) |
single nucleotide variant |
not provided [RCV003225380] |
ChrX:154030482 [GRCh38] ChrX:153295933 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1111_1214del (p.Ser371fs) |
deletion |
See cases [RCV003224930] |
ChrX:154030650..154030753 [GRCh38] ChrX:153296101..153296204 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.849_850del (p.Lys283fs) |
deletion |
not provided [RCV003147197] |
ChrX:154031014..154031015 [GRCh38] ChrX:153296465..153296466 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.459C>A (p.Tyr153Ter) |
single nucleotide variant |
not provided [RCV003142803] |
ChrX:154031405 [GRCh38] ChrX:153296856 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg) |
single nucleotide variant |
not provided [RCV003221504] |
ChrX:154031046 [GRCh38] ChrX:153296497 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.818del (p.Pro273fs) |
deletion |
Rett syndrome [RCV003228791] |
ChrX:154031046 [GRCh38] ChrX:153296497 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NC_000023.11:g.154031853_154031854ins77278664_77280319 |
insertion |
Rett syndrome [RCV003225687] |
ChrX:154031853..154031854 [GRCh38] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.578C>G (p.Ala193Gly) |
single nucleotide variant |
not provided [RCV003324958] |
ChrX:154031286 [GRCh38] ChrX:153296737 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153287263)_(153296026_153296261)del |
deletion |
Rett syndrome [RCV003324124] |
ChrX:153287263..153296026 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.395A>G (p.Tyr132Cys) |
single nucleotide variant |
not provided [RCV003322987] |
ChrX:154032225 [GRCh38] ChrX:153297676 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153247464-153522710)x3 |
copy number gain |
Chromosome Xq28 duplication syndrome [RCV003329535] |
ChrX:153247464..153522710 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153217915-153618382)x2 |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV003329498] |
ChrX:153217915..153618382 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153283692-153298113)x1 |
copy number loss |
Rett syndrome [RCV003329555] |
ChrX:153283692..153298113 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1429T>C (p.Ser477Pro) |
single nucleotide variant |
Rett syndrome [RCV003340781] |
ChrX:154030435 [GRCh38] ChrX:153295886 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1130A>G (p.Glu377Gly) |
single nucleotide variant |
X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV003338092] |
ChrX:154030734 [GRCh38] ChrX:153296185 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1453G>C (p.Glu485Gln) |
single nucleotide variant |
Rett syndrome [RCV003384310] |
ChrX:154030411 [GRCh38] ChrX:153295862 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1246G>A (p.Glu416Lys) |
single nucleotide variant |
Rett syndrome [RCV003384311] |
ChrX:154030618 [GRCh38] ChrX:153296069 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1485G>A (p.Glu495=) |
single nucleotide variant |
Rett syndrome [RCV003384312] |
ChrX:154030379 [GRCh38] ChrX:153295830 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1267_1355del (p.Ser423fs) |
deletion |
Rett syndrome [RCV003387563] |
ChrX:154030509..154030597 [GRCh38] ChrX:153295960..153296048 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1198_1205del (p.Pro400fs) |
deletion |
Rett syndrome [RCV003335783] |
ChrX:154030659..154030666 [GRCh38] ChrX:153296110..153296117 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1189C>T (p.Pro397Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003376074] |
ChrX:154030675 [GRCh38] ChrX:153296126 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.479C>G (p.Thr160Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003373966] |
ChrX:154031385 [GRCh38] ChrX:153296836 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.1197_1235delinsTGAG (p.Pro400fs) |
indel |
Rett syndrome [RCV003445420] |
ChrX:154030629..154030667 [GRCh38] ChrX:153296080..153296118 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.488A>T (p.Asp163Val) |
single nucleotide variant |
not provided [RCV003457630] |
ChrX:154031376 [GRCh38] ChrX:153296827 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.1184_1229del (p.Leu395fs) |
deletion |
Rett syndrome [RCV003484976] |
ChrX:154030635..154030680 [GRCh38] ChrX:153296086..153296131 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.788C>G (p.Pro263Arg) |
single nucleotide variant |
Rett syndrome [RCV003484977] |
ChrX:154031076 [GRCh38] ChrX:153296527 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.413A>T (p.Asn138Ile) |
single nucleotide variant |
Rett syndrome [RCV003484978] |
ChrX:154032207 [GRCh38] ChrX:153297658 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.950A>C (p.Lys317Thr) |
single nucleotide variant |
Rett syndrome [RCV003484979] |
ChrX:154030914 [GRCh38] ChrX:153296365 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.647C>A (p.Ser216Ter) |
single nucleotide variant |
Rett syndrome [RCV003484980] |
ChrX:154031217 [GRCh38] ChrX:153296668 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1016C>T (p.Thr339Ile) |
single nucleotide variant |
not provided [RCV003457629] |
ChrX:154030848 [GRCh38] ChrX:153296299 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:152707335-153624154)x2 |
copy number gain |
not provided [RCV003483984] |
ChrX:152707335..153624154 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 |
copy number loss |
not provided [RCV003483930] |
ChrX:119071609..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NM_001110792.2(MECP2):c.806C>T (p.Ala269Val) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003875254] |
ChrX:154031058 [GRCh38] ChrX:153296509 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.440A>C (p.Lys147Thr) |
single nucleotide variant |
not provided [RCV003482042] |
ChrX:154031424 [GRCh38] ChrX:153296875 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.414-65C>G |
single nucleotide variant |
Rett syndrome [RCV003389419] |
ChrX:154031515 [GRCh38] ChrX:153296966 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq28(chrX:152941303-153549189)x2 |
copy number gain |
not provided [RCV003483987] |
ChrX:152941303..153549189 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 |
copy number gain |
not provided [RCV003483986] |
ChrX:152916854..154775938 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 |
copy number loss |
not provided [RCV003483929] |
ChrX:118576752..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 |
copy number loss |
not provided [RCV003483936] |
ChrX:148598351..154943978 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.1297G>C (p.Gly433Arg) |
single nucleotide variant |
MECP2-related condition [RCV003412304] |
ChrX:154030567 [GRCh38] ChrX:153296018 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.811G>T (p.Ala271Ser) |
single nucleotide variant |
MECP2-related condition [RCV003397387] |
ChrX:154031053 [GRCh38] ChrX:153296504 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.938del (p.Leu313fs) |
deletion |
MECP2-related condition [RCV003400319] |
ChrX:154030926 [GRCh38] ChrX:153296377 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001110792.2(MECP2):c.715C>T (p.Gln239Ter) |
single nucleotide variant |
Rett syndrome [RCV003389417] |
ChrX:154031149 [GRCh38] ChrX:153296600 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001110792.2(MECP2):c.*156G>T |
single nucleotide variant |
Rett syndrome [RCV003389418] |
ChrX:154030211 [GRCh38] ChrX:153295662 [GRCh37] ChrX:Xq28 |
benign |
NM_001110792.2(MECP2):c.346T>G (p.Trp116Gly) |
single nucleotide variant |
MECP2-related condition [RCV003406227] |
ChrX:154032274 [GRCh38] ChrX:153297725 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.564del (p.Lys189fs) |
deletion |
Autism, susceptibility to, X-linked 3 [RCV003445325] |
ChrX:154031300 [GRCh38] ChrX:153296751 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001110792.2(MECP2):c.*1109T>C |
single nucleotide variant |
not provided [RCV003440029] |
ChrX:154029258 [GRCh38] ChrX:153294709 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.*772G>A |
single nucleotide variant |
not provided [RCV003440030] |
ChrX:154029595 [GRCh38] ChrX:153295046 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.747T>G (p.Gly249=) |
single nucleotide variant |
not provided [RCV003440031] |
ChrX:154031117 [GRCh38] ChrX:153296568 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.1145A>G (p.His382Arg) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003824532] |
ChrX:154030719 [GRCh38] ChrX:153296170 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.717A>C (p.Gln239His) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003876349] |
ChrX:154031147 [GRCh38] ChrX:153296598 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001110792.2(MECP2):c.812C>G (p.Ala271Gly) |
single nucleotide variant |
Severe neonatal-onset encephalopathy with microcephaly [RCV003878471] |
ChrX:154031052 [GRCh38] ChrX:153296503 [GRCh37] ChrX:Xq28 |
likely benign |