Unique variants in the MECP2 gene

Information The variants shown are described using the transcript reference sequence.

954 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1 2i_4_ c.(26+1_27-1)_(*1_?)del r.? p.? - pathogenic g.(?_153295818)_(153298008_?)del - chrX:153295818-?_153298008+?del - MECP2_000310 - 0 - - Germline - - - - - LOVD
+/. 1 _1_4_ c.(?_-266015)_(*287154_?)dup r.(?) p.? ACMG pathogenic g.(?_153008664)_(153628977_?)dup - hg38 Xq28(153,008,664-153,628,977) MECP2_002818 - PubMed: Tumienė 2018 - - De novo - - - - - Johan den Dunnen
./. 1 - c.-246944_*585012dup r.0? p.0? - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
-/- 7 - c.-380C r.0 p.0 - benign g.153363342C - - - MECP2_000275 1 more item PubMed: Evans - - Unknown - - - - - Julia Lopez
+/+ 17 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) - pathogenic g.(153298009_153357641)_(153363188_?)del, g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del, c.-168-?_26+?del (deletion exons 1 and 2), c.1-?_26+?del (Deletion of exons 1 and 2), 1 more item - MECP2_000127 - Bunyan, ... , Cardiff, ... , PubMed: Archer HL, PubMed: D Bartholdi, PubMed: Erlandson, PubMed: Li, 5 more items - - Unknown - - - - - Julia Lopez, RettBASE
+/+ 2 1_4 c.(?_-226)_(*8554_?)del r.(?) p.(?) - pathogenic g.(?_153357641)_(153287264_?)del - c.-168-?_*?del - MECP2_000146 - PubMed: Jinxiu Shi, PubMed: Quenard - - Unknown - - - - - RettBASE
?/? 17 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: M Meins, PubMed: Van Esch H - - Unknown - - - - - RettBASE
+/. 1 1 c.-160A>G r.(=) p.(=) - pathogenic g.153363122T>C g.154097665T>C NM_001110792:c.1A>G (M1V) - MECP2_000270 - PubMed: Wen 2020 - - Germline - 1/666 cases - - - Johan den Dunnen
+/. 2 1 c.-156C>T r.(?) p.(=) - pathogenic g.153363118G>A g.154097661G>A NM_001110792:c.5C>T (A2V) - MECP2_000268 VKGL data sharing initiative Nederland PubMed: Wen 2020 - - CLASSIFICATION record, Germline - 1/666 cases - - - Johan den Dunnen, VKGL-NL_Nijmegen
-?/. 1 - c.-140_-138del r.(?) p.(=) - likely benign g.153363117_153363119del g.154097660_154097662del MECP2(NM_001110792.1):c.21_23delCGC (p.A8del) - MECP2_002862 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 - c.-140_-138dup r.(?) p.(=) - VUS g.153363117_153363119dup g.154097660_154097662dup MECP2(NM_001110792.1):c.21_23dupCGC (p.A8dup) - MECP2_002846 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/. 1 1i_2i c.(-174_-98-44)_(-39_27-47)del r.? p.0? - pathogenic g.(153298055_153357706)_(153357809_153363136)del - del ex2 - MECP2_002876 - PubMed: Wen 2020 - - Germline - 1/666 cases - - - Johan den Dunnen
+/. 1 1i_4_ c.(-174_-98-44)_(*5350_?)del r.? p.0? - pathogenic g.(153284536_153290468)_(153357809_153363136)del - del ex2-4 - MECP2_002873 - PubMed: Wen 2020 - - Germline - 1/666 cases - - - Johan den Dunnen
?/. 2 - c.-114_-112dup r.(?) p.(=) - VUS g.153363075_153363077dup g.154097618_154097620dup MECP2(NM_001110792.1):c.47_49dupGCG (p.G16dup) - MECP2_002845 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/? 2 2 c.-15C>T r.(=) p.(=) - VUS g.153357682G>A g.154092224G>A - - MECP2_000336 - PubMed: Bienvenu - - Unknown - - - - - RettBASE
+/. 1 2i_3i c.(-39_27-47)_(357_378-32)del r.? p.? - pathogenic g.(153296933_153297678)_(153298055_153357706)del - del ex3 - MECP2_002881 - PubMed: Wen 2020 - - Germline - 4/666 cases - - - Johan den Dunnen
+/. 1 2i_4_ c.(-39_27-47)_(*5350_?)del r.? p.? - pathogenic g.(153284536_153290468)_(153298055_153357706)del - del ex3-4 - MECP2_002872 - PubMed: Wen 2020 - - Germline - 34/666 cases - - - Johan den Dunnen
+/+ 4 4 c.(1156_1197?) r.(?) p.(Leu386fs) - pathogenic g.(153296082_153296123?) - - - MECP2_000000 - PubMed: Auranen - - Unknown - - - - - RettBASE
+/. 1 2i_4_ c.(26+1_27-1)_*8554{0} r.? p.? - pathogenic g.(?_153287264)_(153298009_153357641)del g.(?_154021813)_(154032558_154092183)del - rsa Xq28 MECP2 (exons3-4)x1 MECP2_000713 - PubMed: Hong 2020 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.(378_*8554)? r.? p.? - pathogenic (recessive) g.(153287264_153296901)? - omplex rearrangement exon 4 - MECP2_002882 - PubMed: Redin 2014 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_1i c.-226_(-174_-98-44)[0] r.0? p.0? - pathogenic g.(153357809_153363136)_(153364281_153585935)del - del ex1 - MECP2_002874 - PubMed: Wen 2020 - - Germline - 7/666 cases - - - Johan den Dunnen
+/. 1 _1_2i c.-226_(-39_27-47)[0] r.0? p.0? - pathogenic g.(153298055_153357706)_(153364281_153585935)del - del ex1-2 - MECP2_002875 - PubMed: Wen 2020 - - Germline - 5/666 cases - - - Johan den Dunnen
+/+, ?/? 3 0 c.? r.(?) p.(?), p.(Phe157Leu), p.(Ser373*) - pathogenic, VUS g.? - - - USP9X_000005 - Cardiff, ... , PubMed: de Lima, PubMed: Kim - - Unknown - - - - - Julia Lopez
+/. 1 4 c.[1072_1084del;1148_1159del] r.(?) p.(Ala358Profs*43) - pathogenic g.[153296120_153296131del;153296195_153296207del] - 1072_1084del+1148_1159del - MECP2_002880 - PubMed: Wen 2020 - - Germline - 1/666 cases - - - Johan den Dunnen
+/+ 1 4_4_ c.[947_1027delins1198_1254inv;1132_*11076del] r.? p.? - pathogenic g.[153284742_153296147del;153296252_153296332delins153296025_153296081] - 947_102del;947_948delins59;1136_10015+2526del] - MECP2_000737 - PubMed: Laccone - - Germline/De novo (untested) - - - - - Julia Lopez
?/? 1 2 c.(?_1)dup r.(?) p.(?) - VUS g.(?_153357667)dup - - - MECP2_000335 - PubMed: Philippe C - - Unknown - - - - - Julia Lopez
?/? 1 2 c.(?_1)_(26+1_27-1)dup r.(?) p.(?) - VUS g.(153298009_153357641)_(153357667_?)dup - - - MECP2_000334 - PubMed: Philippe C - - Unknown - - - - - Julia Lopez
+/. 1 2 c.7G>C r.(?) p.(Ala3Pro) - pathogenic g.153357661C>G g.154092203C>G - - MECP2_002883 - PubMed: Wen 2020 - - Germline - 1/666 cases - - - Johan den Dunnen
+/+ 1 2i c.26+2T>A r.(=) p.(=) - pathogenic g.153357640A>T g.154092182A>T - - MECP2_000574 - Bunyan, ...  - - Unknown - - - - - Julia Lopez
-/. 2 - c.26+27del r.(=) p.(=) - benign g.153357627del - MECP2(NM_004992.3):c.26+27delT - MECP2_002801 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 2 - c.26+28del r.(=) p.(=) - VUS g.153357614del g.154092156del - - MECP2_000018 - - - - Germline - - - - - Yu Sun
?/. 1 - c.26+67dup r.(=) p.(=) - VUS g.153357588dup g.154092130dup - - MECP2_000015 - - - - Germline - - - - - Yu Sun
+/+, ?/? 3 2i c.26+15557C>G r.(=) p.(=) - pathogenic, VUS g.153342085G>C g.154076627A>C IVS3+23C>G (g.C65494G) Rettbase:c.[26+22C>G(;) 808C>T], 1 more item - MECP2_000573 - PubMed: Kim - - Unknown - - - - - Julia Lopez
+/+ 1 2i_4 c.26+25171_13878delins(14) r.(?) p.(?) - pathogenic g.153283401_153332471delins(14) - c.26+25171_13878del50531ins14 (exons 3 and 4 deleted) - MECP2_000742 - PubMed: Kirstine Ravn - - Unknown - - - - - Julia Lopez
+/+ 1 3_4 c.(?_27)_(1000_?)dup r.(?) p.(?) - pathogenic g.(?_153296279)_(153298008_?)dup - c.[27-?_1000+?dup(;)1100_1188del89] - MECP2_000352 - PubMed: Bunyan - - Unknown - - - - - Julia Lopez
+/+ 1 2i_4 c.27-12520_*5073del r.spl? p.? - pathogenic g.153290746_153310529del g.154025295_154045078del c.27-12521_*5072del19784 - MECP2_000623 - PubMed: Kirstine Ravn - - Unknown - - - - - Julia Lopez
+/+ 1 2i_4 c.27-6214_1191del r.spl? p.? - pathogenic g.153296089_153304223del g.154030638_154038772del c.27-6215_1190del8136 (Deletion of exon 3 and part of exon 4) - MECP2_000438 - PubMed: Schollen - - Unknown - - - - - Julia Lopez
+/+ 1 2i_4 c.27-6026_1190delinsGT r.spl? p.? - pathogenic g.153296089_153304034delinsAC g.154030638_154038583delinsAC c.27-6026_1190delinsGT (deletion of exons 3 and 4) - MECP2_000437 - PubMed: Laccone - - Unknown - - - - - Julia Lopez
+/+ 1 2i_4 c.27-5944_1132del r.spl? p.? - pathogenic g.153296147_153303952del g.154030696_154038501del c.[27-5944_1132del; 1157_1197del] - MECP2_000649 - PubMed: Laccone - - Unknown - - - - - Julia Lopez
+/+ 1 2i_4 c.27-5862_1132del r.spl? p.? - pathogenic g.153296147_153303870del g.154030696_154038419del c.[27-5862_1132del; 1157_1197del] - MECP2_000758 - PubMed: Laccone - - Unknown - - - - - Julia Lopez
+/+ 1 2i_4 c.27-5774_902delinsGTGCCCGGACTGATGTCA r.spl? p.? - pathogenic g.153296377_153303782delinsTGACATCAGTCCGGGCAC g.154030926_154038331delinsTGACATCAGTCCGGGCAC c.27-5774_902delinsGTGCCCGGACTGATGTCA (deletion of exon 3 and part of exon 4) - MECP2_000693 - PubMed: Laccone - - Unknown - - - - - Julia Lopez
+/+ 1 2i_4 c.27-5690_1208delins(42) r.(?) p.(?) - pathogenic g.153296071_153303698delins(42) - c.[27-5690_1208del7628ins42];[439G>A] - MECP2_000182 - PubMed: Schollen - - Unknown - - - - - Julia Lopez
+/+ 1 2i_4 c.27-4722_*112delinsCACTTTGTG r.spl? p.? - pathogenic g.153295706_153302730delinsCACAAAGTG g.154030255_154037279delinsCACAAAGTG - - MECP2_000548 - PubMed: Laccone - - Unknown - - - - - Julia Lopez
+/+ 1 2i_4 c.27-4722_*739delins(43) r.(?) p.(?) - pathogenic g.153295079_153302730delins(43) - - - MECP2_000562 - PubMed: Laccone - - Unknown - - - - - Julia Lopez
+/+ 1 2i_4 c.27-3928_1184del r.spl? p.? - pathogenic g.153296097_153301938del g.154030646_154036487del c.27-3928_1184del (deletion of exons 3 and 4) - MECP2_000075 - PubMed: Laccone - - Unknown - - - - - Julia Lopez
?/? 1 2i c.27-55G>A r.(=) p.(=) - VUS g.153298063C>T g.154032612C>T - - MECP2_000572 - PubMed: Coutinho - - Unknown - - - - - Julia Lopez
?/? 1 2i c.27-9A>G r.(=) p.(=) - VUS g.153298017T>C g.154032566T>C - - MECP2_000571 - Cardiff, ...  - - Unknown - - - - - Julia Lopez
?/? 1 2i c.27-8C>G r.(=) p.(=) - VUS g.153298016G>C g.154032565G>C - - MECP2_000344 - - - - Unknown - - - - - Julia Lopez
+/+ 1 2i c.27-6C>G r.(=) p.(=) - pathogenic g.153298014G>C g.154032563G>C - - MECP2_000343 - PubMed: Laccone - - Unknown - - - - - Julia Lopez
+/+ 2 2i c.27-2A>G r.(=) p.(=) - pathogenic g.153298010T>C g.154032559T>C - - MECP2_000340 - Bunyan, ... , PubMed: Kammoun - - Unknown - - - - - Julia Lopez
+/+ 1 3 c.27-?_377+?del r.(?) p.(Arg9_Asn126delinsSer) - pathogenic g.153297658_153298008del g.154032207_154032557del c.[27-?_377+?del(;)1085_1216del132] - MECP2_000763 1 more item PubMed: Bunyan - - Unknown - - - - - Julia Lopez
+/+ 3 2i_3i c.(26+1_27-1)_(377+1_378-1)del r.(?) p.(?) - pathogenic g.(153296902_153297657)_(153298009_153357641)del - c.27-?_377+?del (exon 3 deletion) - MECP2_000519 - PubMed: Laccone, PubMed: Mittal - - Unknown - - - - - Julia Lopez
+/+ 2 2i_4 c.(26+1_27-1)_(378-1_1461)del r.(?) p.(?) - pathogenic g.(153295818_153296902)_(153298009_153357641)del - c.27-?_(378_1461)del - MECP2_000309 - Cardiff, ...  - - Unknown - - - - - Julia Lopez
+/+ 3 3_4 c.(26+1_27-1)_(1018_?)del r.(?) p.(?) - pathogenic g.(?_153296261)_(153298009_153357641)del - - - MECP2_000286 - PubMed: Archer HL - - Unknown - - - - - Julia Lopez
+/+ 1 2i_4 c.(26+1_27-1)_(1021_?)del r.(?) p.(?) - pathogenic g.(?_153296258)_(153298009_153357641)del - c.27-?_1021+?del (deletion of exons 3 and start of exon 4) - MECP2_000285 - PubMed: Li - - Unknown - - - - - Julia Lopez
+/+ 1 2i_4 c.(26+1_27-1)_(1029_?)del r.(?) p.(?) - pathogenic g.(?_153296250)_(153298009_153357641)del - c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4) - MECP2_000282 - PubMed: Kobayashi - - Unknown - - - - - Julia Lopez
+/+ 2 2i_4 c.(26+1_27-1)_(1170_?)del r.(?) p.(?) - pathogenic g.(?_153296109)_(153298009_153357641)del - c.27-?_1170+?del (deletion of exon 3 and part of exon 4) - MECP2_000634 - PubMed: Li - - Unknown - - - - - Julia Lopez
+/+ 1 3_4 c.(26+1_27-1)_(1185_?)del r.(?) p.(?) - pathogenic g.(?_153296094)_(153298009_153357641)del - - - MECP2_000072 - PubMed: Pan 2006 - - Unknown - - - - - Julia Lopez
+/+ 1 2i_4 c.(26+1_27-1)_1205del r.(?) p.(?) - pathogenic g.(?_153363189)_(153298009_153357641)del - c.27-96_1205del (deletion of exon 3 and 4) - MECP2_000274 - PubMed: Laccone - - Unknown - - - - - Julia Lopez
+/+ 3 3_4 c.(26+1_27-1)_(1337_?)del r.(?) p.(?) - pathogenic g.(?_153295942)_(153298009_153357641)del - - - MECP2_000103 - PubMed: Pan 2006 - - Unknown - - - - - Julia Lopez
+/+ 3 3_4 c.(26+1_27-1)_(1397_?)del r.(?) p.(?) - pathogenic g.(?_153295882)_(153298009_153357641)del - - - MECP2_000237 - PubMed: Archer HL - - Unknown - - - - - Julia Lopez
+/+ 33 2i_4 c.(26+1_27-1)_(*1_?)del r.(?) p.(?) - pathogenic g.(?_153295817)_(153298009_153357641)del - - - MECP2_000310 - Boulanger, ... , Cardiff, ... , PubMed: Archer HL, PubMed: D Bartholdi, PubMed: Erlandson, 7 more items - - Unknown - - - - - Julia Lopez
+/. 1 2i_4 c.(26+1_27-1)_(378_*8554)del r.? p.? - pathogenic g.(153287264_153296901)_(153298009_153357641)del - c.27-? *?del - MECP2_000009 - PubMed: Todorov 2012, Journal: Todorov 2012 - - De novo - - - - - Tihomir Todorov
+/+ 1 2i_4 c.(26+1_27-1)_(*8554_?)del r.(?) p.(?) - pathogenic g.(?_153287264)_(153298009_153357641)del - c.27-?_*8554+?del (deletion of exons 3 and 4) - MECP2_000713 - PubMed: Zahorakova - - Unknown - - - - - Julia Lopez
?/? 1 3 c.28G>C r.(?) p.(Glu10Gln) - VUS g.153298007C>G g.154032556C>G - - MECP2_000338 - PubMed: Smeets - - Unknown - - - - - Julia Lopez
+/+ 1 3 c.28G>T r.(?) p.(Glu10*) - pathogenic g.153298007C>A g.154032556C>A - - MECP2_000339 - PubMed: Philippe C - - Unknown - - - - - Julia Lopez
+/+ 1 3 c.35_42dup r.(?) p.(Asp15Serfs*20) - pathogenic g.153297995_153298002dup g.154032544_154032551dup - - MECP2_000334 - PubMed: Vacca - - Unknown - - - - - Julia Lopez
+/. 1 3 c.36del r.(?) p.(Lys12Asnfs*20) - pathogenic g.153295916C>A g.154030465C>A - - MECP2_000093 1 more item PubMed: Wen 2020 - - Germline - 1/666 cases - - - Johan den Dunnen
-/- 2 3 c.36G>C r.(?) p.(Lys12Asn) - benign g.153297999C>G g.154032548C>G - - MECP2_000335 - PubMed: Conforti - - Unknown - - - - - Julia Lopez
?/. 1 - c.40G>C r.(?) p.(Glu14Gln) - VUS g.153297995C>G - MECP2(NM_004992.3):c.40G>C (p.E14Q) - MECP2_002940 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 3 c.46C>T r.(?) p.(Gln16*) - pathogenic g.153297989G>A g.154032538G>A - - MECP2_000331 - Friez, ...  - - Unknown - - - - - Julia Lopez
+/. 1 3 c.47_57del r.(?) p.(Gln16Argfs*10) - pathogenic g.153297999del g.154032548del - - MECP2_002920 1 more item PubMed: Wen 2020 - - Germline - 1/666 cases - - - Johan den Dunnen
+/+ 1 3 c.50dup r.(?) p.(Asp17Glufs*13) - pathogenic g.153297985dup g.154032534dup - - MECP2_000330 - PubMed: Khajuria - - Unknown - - - - - Julia Lopez
+/+ 2 3 c.55C>T r.(?) p.(Gln19*) - pathogenic g.153297980G>A g.154032529G>A - - MECP2_000327 - Das, ... , PubMed: Kim - - Unknown - - - - - Julia Lopez
+/+ 1 3 c.56dup r.(?) p.(Leu21Profs*9) - pathogenic g.153297979dup g.154032528dup - - MECP2_000326 - Das, ...  - - Unknown - - - - - Julia Lopez
+/+ 2 3 c.64A>T r.(?) p.(Lys22*) - pathogenic g.153297971T>A g.154032520T>A - - MECP2_000325 - PubMed: Nicolao, PubMed: Vacca - - Unknown - - - - - Julia Lopez
+/+ 2 3 c.76del r.(?) p.(Leu26Serfs*6) - pathogenic g.153297962del g.154032511del - - MECP2_000323 - PubMed: Nielsen JB - - Unknown - - - - - Julia Lopez
+/. 1 - c.89del r.(?) p.(Lys30Argfs*2) - pathogenic (dominant) g.153297950del g.154032499del c.89delA - MECP2_002863 - PubMed: Pronicka 2016 - - De novo - 1/113 cases - - - Johan den Dunnen
+/+ 1 3 c.91del r.(?) p.(Val31*) - pathogenic g.153297945del g.154032494del - - MECP2_000322 - Cardiff, ...  - - Unknown - - - - - Julia Lopez
+/. 1 3 c.98_101del r.(?) p.(Lys33Ilefs*91) - pathogenic g.153297978_153297988del g.154032527_154032537del - - MECP2_002919 1 more item PubMed: Wen 2020 - - Germline - 1/666 cases - - - Johan den Dunnen
+/+ 2 3 c.100_103del r.(?) p.(Asp34Argfs*90) - pathogenic g.153297933_153297936del g.154032482_154032485del - - MECP2_000320 - PubMed: Yamada - - Unknown - - - - - Julia Lopez
+/+ 1 3 c.107_108del r.(?) p.(Lys36Argfs*8) - pathogenic g.153297928_153297929del g.154032477_154032478del - - MECP2_000319 - PubMed: Fukuda - - Unknown - - - - - Julia Lopez
+/+ 1 3 c.107_113del r.(?) p.(Lys36Argfs*87) - pathogenic g.153297926_153297932del g.154032475_154032481del - - MECP2_000570 - PubMed: Philippe C - - Unknown - - - - - Julia Lopez
+/+, +/. 3 3 c.108_111del r.(?) p.(Glu37Argfs*87) - pathogenic g.153297929_153297932del, g.153297934_153297937del g.154032478_154032481del, g.154032483_154032486del - - MECP2_000316, MECP2_002918 1 more item Bunyan, ... , PubMed: Wen 2020 - - Germline, Unknown - 2/666 cases - - - Johan den Dunnen, Julia Lopez
+/. 1 3 c.112_116del r.(?) p.(Glu38Argfs*5) - pathogenic g.153297924_153297927del g.154032473_154032476del - - MECP2_002917 1 more item PubMed: Wen 2020 - - Germline - 4/666 cases - - - Johan den Dunnen
+/+ 1 3 c.117dup r.(?) p.(Glu40Argfs*5) - pathogenic g.153297920dup g.154032469dup - - MECP2_000569 - PubMed: Philippe C - - Unknown - - - - - Julia Lopez
+/+, +/. 3 3 c.119_120del r.(?) p.(Glu40Glyfs*4) - pathogenic g.153297917_153297918del, g.153297919_153297923del g.154032466_154032467del, g.154032468_154032472del - - MECP2_000568, MECP2_002916 1 more item PubMed: Julich, PubMed: Li, PubMed: Wen 2020 - - Germline, Unknown - 1/666 cases - - - Johan den Dunnen, Julia Lopez
-?/. 1 - c.120G>A r.(?) p.(Glu40=) - likely benign g.153297915C>T g.154032464C>T MECP2(NM_004992.3):c.120G>A (p.E40=) - MECP2_002844 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.122G>T r.(?) p.(Gly41Val) - VUS g.153297913C>A - MECP2(NM_004992.3):c.122G>T (p.G41V) - MECP2_002939 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 3 c.126dup r.(?) p.(His43Alafs*2) - pathogenic g.153297909dup g.154032458dup - - MECP2_000567 - Cardiff, ...  - - Unknown - - - - - Julia Lopez
-?/. 1 - c.128A>G r.(?) p.(His43Arg) - likely benign g.153297907T>C g.154032456T>C MECP2(NM_004992.3):c.128A>G (p.H43R) - MECP2_002843 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 3 c.130G>T r.(?) p.(Glu44*) - pathogenic g.153295906C>T g.154030455C>T - - MECP2_000089 1 more item PubMed: Wen 2020 - - Germline - 1/666 cases - - - Johan den Dunnen
+/. 1 3 c.139C>T r.(?) p.(Gln47*) - pathogenic g.153297905C>A g.154032454C>A - - MECP2_002914 1 more item PubMed: Wen 2020 - - Germline - 1/666 cases - - - Johan den Dunnen
+/+ 1 3 c.140dup r.(?) p.(Pro48Alafs*8) - pathogenic g.153297895dup g.154032444dup - - MECP2_000566 - PubMed: Yaron Y - - Unknown - - - - - Julia Lopez
+/. 1 3 c.140_144del r.(?) p.(Gln47Leufs*7) - pathogenic g.153297915_153297916del g.154032464_154032465del - - MECP2_002915 1 more item PubMed: Wen 2020 - - Germline - 1/666 cases - - - Johan den Dunnen
+/+ 3 3 c.146C>A r.(?) p.(Ser49*) - pathogenic g.153297889G>T g.154032438G>T - - MECP2_000560 - Cardiff, ... , Friez, ... , PubMed: Bourdon - - Unknown - - - - - Julia Lopez
+/+, +/. 2 3 c.146C>G r.(?) p.(Ser49*) - pathogenic g.153297889G>C, g.153297896G>A g.154032438G>C, g.154032445G>A - - MECP2_000565 1 more item Das, ... , PubMed: Wen 2020 - - Germline, Unknown - 1/666 cases - - - Johan den Dunnen, Julia Lopez
?/? 2 3 c.153C>G r.(?) p.(His51Gln) - VUS g.153297882G>C g.154032431G>C - - MECP2_000556 - Khajuria, ... , PubMed: Khajuria - - Unknown - - - - - Julia Lopez
-?/., ?/? 2 3 c.155A>G r.(?) p.(His52Arg) - likely benign, VUS g.153297880T>C g.154032429T>C MECP2(NM_004992.3):c.155A>G (p.H52R) - MECP2_000703 VKGL data sharing initiative Nederland Cardiff, ...  - - CLASSIFICATION record, Unknown - - - - - Julia Lopez, VKGL-NL_Rotterdam
+/+ 3 3 c.167_168del r.(?) p.(Pro56Argfs*34) - NA, pathogenic g.153297868_153297869del g.154032417_154032418del - - MECP2_000443 - PubMed: Bienvenu, PubMed: Clayton-Smith, PubMed: Watson - - Somatic, Unknown - - - - - Julia Lopez
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