Full data view for gene MECP2

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

4899 entries on 49 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2i_4_ c.(26+1_27-1)_(*1_?)del r.? p.? Parent #1 - pathogenic g.(?_153295818)_(153298008_?)del - chrX:153295818-?_153298008+?del - MECP2_000310 - 0 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-5508 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+/. _1_4_ c.(?_-266015)_(*287154_?)dup r.(?) p.? Unknown ACMG pathogenic g.(?_153008664)_(153628977_?)dup - hg38 Xq28(153,008,664-153,628,977) MECP2_002818 - PubMed: Tumienė 2018 - - De novo - - - 0 - DNA SEQ-NG - WES ? 29286531-Pat36 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - 1 Johan den Dunnen
./. - c.-246944_*585012dup r.0? p.0? Maternal (confirmed) - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 2 Johan den Dunnen
-/- - c.-380C r.0 p.0 Parent #1 - benign g.153363342C - - - MECP2_000275 Variant Error [ESYNTAX]: This genomic variant has an error (char 26: end of input). Please fix this entry and then remove this message. PubMed: Evans - - Unknown - - - 0 - DNA ? - - - - PubMed: Evans - F - - - - 0 - - 1 RettBASE
-/- - c.-380C r.0 p.0 Parent #1 - benign g.153363342C - - - MECP2_000275 Variant Error [ESYNTAX]: This genomic variant has an error (char 26: end of input). Please fix this entry and then remove this message. PubMed: Evans - - Unknown - - - 0 - DNA ? - - - - PubMed: Evans - F - - - - 0 - - 1 RettBASE
-/- - c.-380C r.0 p.0 Parent #1 - benign g.153363342C - - - MECP2_000275 Variant Error [ESYNTAX]: This genomic variant has an error (char 26: end of input). Please fix this entry and then remove this message. PubMed: Evans - - Unknown - - - 0 - DNA ? - - - - PubMed: Evans - F - - - - 0 - - 1 RettBASE
-/- - c.-380C r.0 p.0 Parent #1 - benign g.153363342C - - - MECP2_000275 Variant Error [ESYNTAX]: This genomic variant has an error (char 26: end of input). Please fix this entry and then remove this message. PubMed: Evans - - Unknown - - - 0 - DNA ? - - - - PubMed: Evans - F - - - - 0 - - 1 RettBASE
-/- - c.-380C r.0 p.0 Parent #1 - benign g.153363342C - - - MECP2_000275 Variant Error [ESYNTAX]: This genomic variant has an error (char 26: end of input). Please fix this entry and then remove this message. PubMed: Evans - - Unknown - - - 0 - DNA ? - - - - PubMed: Evans - M - - - - 0 - - 1 RettBASE
-/- - c.-380C r.0 p.0 Parent #1 - benign g.153363342C - - - MECP2_000275 Variant Error [ESYNTAX]: This genomic variant has an error (char 26: end of input). Please fix this entry and then remove this message. PubMed: Evans - - Unknown - - - 0 - DNA ? - - - - PubMed: Evans - M - - - - 0 - - 1 RettBASE
-/- - c.-380C r.0 p.0 Parent #1 - benign g.153363342C - - - MECP2_000275 Variant Error [ESYNTAX]: This genomic variant has an error (char 26: end of input). Please fix this entry and then remove this message. PubMed: Evans - - Unknown - - - 0 - DNA ? - - - - PubMed: Evans - M - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del - MECP2_000127 - Bunyan, ...  - - Unknown - - - 0 - DNA ? - - - - Bunyan, ...  - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del - MECP2_000127 - Bunyan, ...  - - Unknown - - - 0 - DNA ? - - - - Bunyan, ...  - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del - MECP2_000127 - Cardiff, ...  - - Unknown - - - 0 - DNA ? - - - - Cardiff, ...  - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del - MECP2_000127 - Cardiff, ...  - - Unknown - - - 0 - DNA ? - - - - Cardiff, ...  - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del - MECP2_000127 - Cardiff, ...  - - Unknown - - - 0 - DNA ? - - - - Cardiff, ...  - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del - MECP2_000127 - PubMed: D Bartholdi - - Unknown - - - 0 - DNA ? - - - - PubMed: D Bartholdi - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del - MECP2_000127 - PubMed: Kirstine Ravn - - Unknown - - - 0 - DNA ? - - - - PubMed: Kirstine Ravn - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del - MECP2_000127 - PubMed: Quenard - - Unknown - - - 0 - DNA ? - - - - PubMed: Quenard - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del - MECP2_000127 - PubMed: Quenard - - Unknown - - - 0 - DNA ? - - - - PubMed: Quenard - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del - MECP2_000127 - PubMed: Pan 2006 - - Unknown - - - 0 - DNA ? - - - - PubMed: Pan 2006 - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del - MECP2_000127 - PubMed: Li - - Unknown - - - 0 - DNA ? - - - - PubMed: Li - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del - MECP2_000127 - PubMed: Archer HL - - Unknown - - - 0 - DNA ? - - - - PubMed: Archer HL - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del - MECP2_000127 - PubMed: Archer HL - - Unknown - - - 0 - DNA ? - - - - PubMed: Archer HL - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del - MECP2_000127 - PubMed: Archer HL - - Unknown - - - 0 - DNA ? - - - - PubMed: Archer HL - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-168-?_26+?del (deletion exons 1 and 2) - MECP2_000127 - PubMed: Rajaei - - Unknown - - - 0 - DNA ? - - - - PubMed: Rajaei - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153363189_153298009)del - c.-98-?_377+?del (deletion of exons 2 and 3) - MECP2_000127 - PubMed: Kammoun - - Unknown - - - 0 - DNA ? - - - - PubMed: Kammoun - F - - - - 0 - - 1 RettBASE
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?) Parent #1 - pathogenic g.(153298009_153357641)_(153363188_?)del - c.1-?_26+?del (Deletion of exons 1 and 2) - MECP2_000127 - PubMed: Erlandson - - Unknown - - - 0 - DNA ? - - - - PubMed: Erlandson - F - - - - 0 - - 1 RettBASE
+/+ 1_4 c.(?_-226)_(*8554_?)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153287264_?)del - c.-168-?_*?del - MECP2_000146 - PubMed: Jinxiu Shi - - Unknown - - - 0 - DNA ? - - - - PubMed: Jinxiu Shi - F - - - - 0 - - 1 RettBASE
+/+ 1_4 c.(?_-226)_(*8554_?)del r.(?) p.(?) Parent #1 - pathogenic g.(?_153357641)_(153287264_?)del - c.-168-?_*?del - MECP2_000146 - PubMed: Quenard - - Unknown - - - 0 - DNA ? - - - - PubMed: Quenard - F - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: M Meins - - Unknown - - - 0 - DNA ? - - - - PubMed: M Meins - M - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: M Meins - - Unknown - - - 0 - DNA ? - - - - PubMed: M Meins - F - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: Van Esch H - - Unknown - - - 0 - DNA ? - - - - PubMed: Van Esch H - M - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: Van Esch H - - Unknown - - - 0 - DNA ? - - - - PubMed: Van Esch H - M - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: Van Esch H - - Unknown - - - 0 - DNA ? - - - - PubMed: Van Esch H - M - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: Van Esch H - - Unknown - - - 0 - DNA ? - - - - PubMed: Van Esch H - F - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: Van Esch H - - Unknown - - - 0 - DNA ? - - - - PubMed: Van Esch H - F - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: Van Esch H - - Unknown - - - 0 - DNA ? - - - - PubMed: Van Esch H - M - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: Van Esch H - - Unknown - - - 0 - DNA ? - - - - PubMed: Van Esch H - M - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: Van Esch H - - Unknown - - - 0 - DNA ? - - - - PubMed: Van Esch H - F - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: Van Esch H - - Unknown - - - 0 - DNA ? - - - - PubMed: Van Esch H - F - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: Van Esch H - - Unknown - - - 0 - DNA ? - - - - PubMed: Van Esch H - F - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: Van Esch H - - Unknown - - - 0 - DNA ? - - - - PubMed: Van Esch H - M - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: Van Esch H - - Unknown - - - 0 - DNA ? - - - - PubMed: Van Esch H - M - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: Van Esch H - - Unknown - - - 0 - DNA ? - - - - PubMed: Van Esch H - F - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: Van Esch H - - Unknown - - - 0 - DNA ? - - - - PubMed: Van Esch H - F - - - - 0 - - 1 RettBASE
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357641)_(153287264_?)dup - c.-168-?_*?dup - MECP2_000147 - PubMed: Van Esch H - - Unknown - - - 0 - DNA ? - - - - PubMed: Van Esch H - F - - - - 0 - - 1 RettBASE
+/. 1 c.-160A>G r.(=) p.(=) Unknown - pathogenic g.153363122T>C g.154097665T>C NM_001110792:c.1A>G (M1V) - MECP2_000270 - PubMed: Wen 2020 - - Germline - 1/666 cases - 0 - DNA SEQ - - ? ? PubMed: Wen 2020 analysis 666 cases with MECP2 variant F - China - - 0 - - 1 Johan den Dunnen
+/. - c.-156C>T r.(?) p.(=) Unknown - pathogenic g.153363118G>A g.154097661G>A - - MECP2_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.-156C>T r.(?) p.(=) Unknown - pathogenic g.153363118G>A g.154097661G>A NM_001110792:c.5C>T (A2V) - MECP2_000268 - PubMed: Wen 2020 - - Germline - 1/666 cases - 0 - DNA SEQ - - ? ? PubMed: Wen 2020 analysis 666 cases with MECP2 variant F - China - - 0 - - 1 Johan den Dunnen
-?/. - c.-140_-138del r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-140_-138dup r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-140_-138dup r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_2i c.(-174_-98-44)_(-39_27-47)del r.? p.0? Unknown - pathogenic g.(153298055_153357706)_(153357809_153363136)del - del ex2 - MECP2_002876 - PubMed: Wen 2020 - - Germline - 1/666 cases - 0 - DNA SEQ, MLPA - - ? ? PubMed: Wen 2020 analysis 666 cases with MECP2 variant F - China - - 0 - - 1 Johan den Dunnen
+/. 1i_4_ c.(-174_-98-44)_(*5350_?)del r.? p.0? Unknown - pathogenic g.(153284536_153290468)_(153357809_153363136)del - del ex2-4 - MECP2_002873 - PubMed: Wen 2020 - - Germline - 1/666 cases - 0 - DNA SEQ, MLPA - - ? ? PubMed: Wen 2020 analysis 666 cases with MECP2 variant F - China - - 0 - - 1 Johan den Dunnen
?/. - c.-114_-112dup r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-114_-112dup r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.-15C>T r.(=) p.(=) Parent #1 - VUS g.153357682G>A g.154092224G>A - - MECP2_000336 - PubMed: Bienvenu - - Unknown - - - 0 - DNA ? - - - - PubMed: Bienvenu - F - - - - 0 - - 1 RettBASE
?/? 2 c.-15C>T r.(=) p.(=) Parent #1 - VUS g.153357682G>A g.154092224G>A - - MECP2_000336 - PubMed: Bienvenu - - Unknown - - - 0 - DNA ? - - - - PubMed: Bienvenu - F - - - - 0 - - 1 RettBASE
+/. 2i_3i c.(-39_27-47)_(357_378-32)del r.? p.? Unknown - pathogenic g.(153296933_153297678)_(153298055_153357706)del - del ex3 - MECP2_002881 - PubMed: Wen 2020 - - Germline - 4/666 cases - 0 - DNA SEQ, MLPA - - ? ? PubMed: Wen 2020 analysis 666 cases with MECP2 variant F - China - - 0 - - 4 Johan den Dunnen
+/. 2i_4_ c.(-39_27-47)_(*5350_?)del r.? p.? Unknown - pathogenic g.(153284536_153290468)_(153298055_153357706)del - del ex3-4 - MECP2_002872 - PubMed: Wen 2020 - - Germline - 34/666 cases - 0 - DNA SEQ, MLPA - - ? ? PubMed: Wen 2020 analysis 666 cases with MECP2 variant F - China - - 0 - - 34 Johan den Dunnen
+/+ 4 c.(1156_1197?) r.(?) p.(Leu386fs) Parent #1 - pathogenic g.(153296082_153296123?) - - - MECP2_000000 - PubMed: Auranen - - Unknown - - - 0 - DNA ? - - - - PubMed: Auranen - F - - - - 0 - - 1 RettBASE
+/+ 4 c.(1156_1197?) r.(?) p.(Leu386fs) Parent #1 - pathogenic g.(153296082_153296123?) - - - MECP2_000000 - PubMed: Auranen - - Unknown - - - 0 - DNA ? - - - - PubMed: Auranen - F - - - - 0 - - 1 RettBASE
+/+ 4 c.(1156_1197?) r.(?) p.(Leu386fs) Parent #1 - pathogenic g.(153296082_153296123?) - - - MECP2_000000 - PubMed: Auranen - - Unknown - - - 0 - DNA ? - - - - PubMed: Auranen - F - - - - 0 - - 1 RettBASE
+/+ 4 c.(1156_1197?) r.(?) p.(Leu386fs) Parent #1 - pathogenic g.(153296082_153296123?) - - - MECP2_000000 - PubMed: Auranen - - Unknown - - - 0 - DNA ? - - - - PubMed: Auranen - F - - - - 0 - - 1 RettBASE
+/. 2i_4_ c.(26+1_27-1)_*8554{0} r.? p.? Maternal (inferred) - pathogenic g.(?_153287264)_(153298009_153357641)del g.(?_154021813)_(154032558_154092183)del - rsa Xq28 MECP2 (exons3-4)x1 MECP2_000713 - PubMed: Hong 2020 - - Germline - - - 0 - DNA MLPA, SEQ, SEQ-NG - WES ? Pat17 PubMed: Hong 2020 - F - Taiwan - - 0 - - 1 Johan den Dunnen
+/. - c.(378_*8554)? r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(153287264_153296901)? - omplex rearrangement exon 4 - MECP2_002882 - PubMed: Redin 2014 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 237-gene ID panel ID APN-3 PubMed: Redin 2014 analysis 106 patients M - France - - 0 - - 1 Johan den Dunnen
+/. _1_1i c.-226_(-174_-98-44)[0] r.0? p.0? Unknown - pathogenic g.(153357809_153363136)_(153364281_153585935)del - del ex1 - MECP2_002874 - PubMed: Wen 2020 - - Germline - 7/666 cases - 0 - DNA SEQ, MLPA - - ? ? PubMed: Wen 2020 analysis 666 cases with MECP2 variant F - China - - 0 - - 7 Johan den Dunnen
+/. _1_2i c.-226_(-39_27-47)[0] r.0? p.0? Unknown - pathogenic g.(153298055_153357706)_(153364281_153585935)del - del ex1-2 - MECP2_002875 - PubMed: Wen 2020 - - Germline - 5/666 cases - 0 - DNA SEQ, MLPA - - ? ? PubMed: Wen 2020 analysis 666 cases with MECP2 variant F - China - - 0 - - 5 Johan den Dunnen
+/+ 0 c.? r.(?) p.(Ser373*) Parent #1 - pathogenic g.? - - - USP9X_000005 - Cardiff, ...  - - Unknown - - - 0 - DNA ? - - - - Cardiff, ...  - F - - - - 0 - - 1 RettBASE
?/? 0 c.? r.(?) p.(?) Parent #1 - VUS g.? - - - USP9X_000005 - PubMed: de Lima - - Unknown - - - 0 - DNA ? - - - - PubMed: de Lima - F - - - - 0 - - 1 RettBASE
?/? 0 c.? r.(?) p.(Phe157Leu) Parent #1 - VUS g.? - - - USP9X_000005 - PubMed: Kim - - Unknown - - - 0 - DNA ? - - - - PubMed: Kim - F - - - - 0 - - 1 RettBASE
+/. 4 c.[1072_1084del;1148_1159del] r.(?) p.(Ala358Profs*43) Unknown - pathogenic g.[153296120_153296131del;153296195_153296207del] - 1072_1084del+1148_1159del - MECP2_002880 - PubMed: Wen 2020 - - Germline - 1/666 cases - 0 - DNA SEQ - - ? ? PubMed: Wen 2020 analysis 666 cases with MECP2 variant F - China - - 0 - - 1 Johan den Dunnen
+/+ 4_4_ c.[947_1027delins1198_1254inv;1132_*11076del] r.? p.? Parent #1 - pathogenic g.[153284742_153296147del;153296252_153296332delins153296025_153296081] - 947_102del;947_948delins59;1136_10015+2526del] - MECP2_000737 - PubMed: Laccone - - Germline/De novo (untested) - - - 0 - DNA ? - - - - PubMed: Laccone - F - - - - 0 - - 1 RettBASE
?/? 2 c.(?_1)dup r.(?) p.(?) Parent #1 - VUS g.(?_153357667)dup - - - MECP2_000335 - PubMed: Philippe C - - Unknown - - - 0 - DNA ? - - - - PubMed: Philippe C - F - - - - 0 - - 1 RettBASE
?/? 2 c.(?_1)_(26+1_27-1)dup r.(?) p.(?) Parent #1 - VUS g.(153298009_153357641)_(153357667_?)dup - - - MECP2_000334 - PubMed: Philippe C - - Unknown - - - 0 - DNA ? - - - - PubMed: Philippe C - F - - - - 0 - - 1 RettBASE
+/. 2 c.7G>C r.(?) p.(Ala3Pro) Unknown - pathogenic g.153357661C>G g.154092203C>G - - MECP2_002883 - PubMed: Wen 2020 - - Germline - 1/666 cases - 0 - DNA SEQ - - ? ? PubMed: Wen 2020 analysis 666 cases with MECP2 variant F - China - - 0 - - 1 Johan den Dunnen
+/+ 2i c.26+2T>A r.(=) p.(=) Parent #1 - pathogenic g.153357640A>T g.154092182A>T - - MECP2_000574 - Bunyan, ...  - - Unknown - - - 0 - DNA ? - - - - Bunyan, ...  - F - - - - 0 - - 1 RettBASE
-/. - c.26+27del r.(=) p.(=) Unknown - benign g.153357627del - MECP2(NM_004992.3):c.26+27delT - MECP2_002801 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.26+27del r.(=) p.(=) Unknown - benign g.153357627del - MECP2(NM_004992.3):c.26+27delT - MECP2_002801 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.26+28del r.(=) p.(=) Unknown - VUS g.153357614del g.154092156del - - MECP2_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.26+28del r.(=) p.(=) Unknown - VUS g.153357614del g.154092156del - - MECP2_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.26+67dup r.(=) p.(=) Unknown - VUS g.153357588dup g.154092130dup - - MECP2_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/? 2i c.26+15557C>G r.(=) p.(=) Unknown - VUS g.153342085G>C g.154076627A>C IVS3+23C>G (g.C65494G) Rettbase:[26+22C>G(;)468C>G] - MECP2_000573 - PubMed: Kim - - Unknown - - - 0 - DNA ? - - - - PubMed: Kim - F - - - - 0 - - 1 RettBASE
+/+ 2i c.26+15557C>G r.(=) p.(=) Unknown - pathogenic g.153342085G>C g.154076627A>C IVS3+23C>G (g.C65494G) Rettbase:c.[26+22C>G(;) 808C>T] - MECP2_000573 - PubMed: Kim - - Unknown - - - 0 - DNA ? - - - - PubMed: Kim - F - - - - 0 - - 1 RettBASE
+/+ 2i c.26+15557C>G r.(=) p.(=) Unknown - pathogenic g.153342085G>C g.154076627A>C IVS3+23C>G (g.C65494G) Rettbase:c.[26+22C>G(;) 808C>T] - MECP2_000573 - PubMed: Kim - - Unknown - - - 0 - DNA ? - - - - PubMed: Kim - F - - - - 0 - - 1 RettBASE
+/+ 2i_4 c.26+25171_13878delins(14) r.(?) p.(?) Parent #1 - pathogenic g.153283401_153332471delins(14) - c.26+25171_13878del50531ins14 (exons 3 and 4 deleted) - MECP2_000742 - PubMed: Kirstine Ravn - - Unknown - - - 0 - DNA ? - - - - PubMed: Kirstine Ravn - F - - - - 0 - - 1 RettBASE
+/+ 3_4 c.(?_27)_(1000_?)dup r.(?) p.(?) Unknown - pathogenic g.(?_153296279)_(153298008_?)dup - c.[27-?_1000+?dup(;)1100_1188del89] - MECP2_000352 - PubMed: Bunyan - - Unknown - - - 0 - DNA ? - - - - PubMed: Bunyan - F - - - - 0 - - 1 RettBASE
+/+ 2i_4 c.27-12520_*5073del r.spl? p.? Parent #1 - pathogenic g.153290746_153310529del g.154025295_154045078del c.27-12521_*5072del19784 - MECP2_000623 - PubMed: Kirstine Ravn - - Unknown - - - 0 - DNA ? - - - - PubMed: Kirstine Ravn - F - - - - 0 - - 1 RettBASE
+/+ 2i_4 c.27-6214_1191del r.spl? p.? Parent #1 - 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 - - - 0 - DNA ? - - - - PubMed: Schollen - F - - - - 0 - - 1 RettBASE
+/+ 2i_4 c.27-6026_1190delinsGT r.spl? p.? Parent #1 - pathogenic g.153296089_153304034delinsAC g.154030638_154038583delinsAC c.27-6026_1190delinsGT (deletion of exons 3 and 4) - MECP2_000437 - PubMed: Laccone - - Unknown - - - 0 - DNA ? - - - - PubMed: Laccone - F - - - - 0 - - 1 RettBASE
+/+ 2i_4 c.27-5944_1132del r.spl? p.? Parent #1 - pathogenic g.153296147_153303952del g.154030696_154038501del c.[27-5944_1132del; 1157_1197del] - MECP2_000649 - PubMed: Laccone - - Unknown - - - 0 - DNA ? - - - - PubMed: Laccone - F - - - - 0 - - 1 RettBASE
+/+ 2i_4 c.27-5862_1132del r.spl? p.? Parent #1 - pathogenic g.153296147_153303870del g.154030696_154038419del c.[27-5862_1132del; 1157_1197del] - MECP2_000758 - PubMed: Laccone - - Unknown - - - 0 - DNA ? - - - - PubMed: Laccone - F - - - - 0 - - 1 RettBASE
+/+ 2i_4 c.27-5774_902delinsGTGCCCGGACTGATGTCA r.spl? p.? Parent #1 - 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 - - - 0 - DNA ? - - - - PubMed: Laccone - F - - - - 0 - - 1 RettBASE
+/+ 2i_4 c.27-5690_1208delins(42) r.(?) p.(?) Parent #1 - pathogenic g.153296071_153303698delins(42) - c.[27-5690_1208del7628ins42];[439G>A] - MECP2_000182 - PubMed: Schollen - - Unknown - - - 0 - DNA ? - - - - PubMed: Schollen - F - - - - 0 - - 1 RettBASE
+/+ 2i_4 c.27-4722_*112delinsCACTTTGTG r.spl? p.? Parent #1 - pathogenic g.153295706_153302730delinsCACAAAGTG g.154030255_154037279delinsCACAAAGTG - - MECP2_000548 - PubMed: Laccone - - Unknown - - - 0 - DNA ? - - - - PubMed: Laccone - F - - - - 0 - - 1 RettBASE
+/+ 2i_4 c.27-4722_*739delins(43) r.(?) p.(?) Parent #1 - pathogenic g.153295079_153302730delins(43) - - - MECP2_000562 - PubMed: Laccone - - Unknown - - - 0 - DNA ? - - - - PubMed: Laccone - F - - - - 0 - - 1 RettBASE
+/+ 2i_4 c.27-3928_1184del r.spl? p.? Parent #1 - pathogenic g.153296097_153301938del g.154030646_154036487del c.27-3928_1184del (deletion of exons 3 and 4) - MECP2_000075 - PubMed: Laccone - - Unknown - - - 0 - DNA ? - - - - PubMed: Laccone - F - - - - 0 - - 1 RettBASE
?/? 2i c.27-55G>A r.(=) p.(=) Parent #1 - VUS g.153298063C>T g.154032612C>T - - MECP2_000572 - PubMed: Coutinho - - Unknown - - - 0 - DNA ? - - - - PubMed: Coutinho - ? - - - - 0 - - 1 RettBASE
?/? 2i c.27-9A>G r.(=) p.(=) Parent #1 - VUS g.153298017T>C g.154032566T>C - - MECP2_000571 - Cardiff, ...  - - Unknown - - - 0 - DNA ? - - - - Cardiff, ...  - F - - - - 0 - - 1 RettBASE
?/? 2i c.27-8C>G r.(=) p.(=) Parent #1 - VUS g.153298016G>C g.154032565G>C - - MECP2_000344 - - - - Unknown - - - 0 - DNA ? - - - - - - F - - - - 0 - - 1 RettBASE
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