Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_004992.3(MECP2):c.1250A>T (p.Lys417Met) | 4204 | MECP2 | Uncertain significance | 61753968 | RCV000132977; | N | MedGen:C1968556,OMIM:300673, Orphanet:ORPHA209370 | X | 153296029 | 153296029 | NM_004992.3:c.1250A>T | NP_004983.1:p.Lys417Met | NC_000023.10:g.153296029T>A | - | C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly | | |
NM_004992.3(MECP2):c.1164_1207del44 (p.Pro389Terfs) | 4204 | MECP2 | Pathogenic;Uncertain significance | 61752992 | RCV000170103; RCV000170102; RCV000169931; RCV000169932; RCV000132932; RCV000168704; | N | MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1845336,OMIM:300496; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:C1968556,OMIM:300673, Orphanet:ORPHA209370; MedGen:CN169374; MedGen:CN221809 | X | 153296072 | 153296115 | NM_004992.3:c.1164_1207del44 | NP_004983.1:p.Pro389Terfs | NC_000023.10:g.153296072_153296115del44 | - | C1845336 300496 Autism, susceptibility to, X-linked 3; C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided; CN169374 not specified; C0035372 312750 Rett syndrome; C1968556 300673 Severe neonatal-onset encephalopathy with m | | |
NM_004992.3(MECP2):c.1163_1201del39 (p.Pro388_Ser401delinsArg) | 4204 | MECP2 | Uncertain significance | 267608602 | RCV000132929; | N | MedGen:C1968556,OMIM:300673, Orphanet:ORPHA209370 | X | 153296078 | 153296116 | NM_004992.3:c.1163_1201del39 | NP_004983.1:p.Pro388_Ser401delinsArg | NC_000023.10:g.153296078_153296116del39 | - | C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly | | |
NM_004992.3(MECP2):c.808C>T (p.Arg270Ter) | 4204 | MECP2 | Pathogenic | 61750240 | RCV000012586; RCV000178231; RCV000169940; RCV000081212; RCV000146359; | N | MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:C1968556,OMIM:300673, Orphanet:ORPHA209370; MedGen:CN221284; MedGen:CN221809 | X | 153296471 | 153296471 | NM_004992.3:c.808C>T | NP_004983.1:p.Arg270Ter | NC_000023.10:g.153296471G>A,NC_000023.10:g.153296471G>C | HGMD:CM000749,OMIM Allelic Variant:300005.0005 | CN221284 Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome; C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided; C0035372 312750 Rett syndrome; C1968556 300673 Severe neonatal-onset enc | | |
NM_004992.3(MECP2):c.808delC (p.Arg270Glufs) | 4204 | MECP2 | Pathogenic | 62931162 | RCV000168692; RCV000133243; | N | MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968556,OMIM:300673, Orphanet:ORPHA209370 | X | 153296471 | 153296471 | NM_004992.3:c.808delC | NP_004983.1:p.Arg270Glufs | NC_000023.10:g.153296471delG | - | C0035372 312750 Rett syndrome; C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly | | |
NM_004992.3(MECP2):c.806delG (p.Gly269Alafs) | 4204 | MECP2 | Pathogenic | 61750241 | RCV000168691; RCV000170113; RCV000169939; RCV000081211; | N | MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:C1968556,OMIM:300673, Orphanet:ORPHA209370; MedGen:CN221809 | X | 153296473 | 153296473 | NM_004992.3:c.806delG | NP_004983.1:p.Gly269Alafs | NC_000023.10:g.153296473delC | HGMD:CD993407 | C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided; C0035372 312750 Rett syndrome; C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly | | |
NM_004992.3(MECP2):c.753dupC (p.Gly252Argfs) | 4204 | MECP2 | Pathogenic | 61749751 | RCV000133229; RCV000170112; RCV000144424; | N | MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968556,OMIM:300673, Orphanet:ORPHA209370; MedGen:CN221809 | X | 153296526 | 153296526 | NM_004992.3:c.753dupC | NP_004983.1:p.Gly252Argfs | NC_000023.10:g.153296526dupG,NC_000023.10:g.153296528_153296532dupGGCGT | - | CN221809 not provided; C0035372 312750 Rett syndrome; C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly | | |
NM_004992.3(MECP2):c.488_489delGG (p.Gly163Glufs) | 4204 | MECP2 | Pathogenic | 267608488 | RCV000133140; RCV000170111; | N | MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968556,OMIM:300673, Orphanet:ORPHA209370 | X | 153296790 | 153296791 | NM_004992.3:c.488_489delGG | NP_004983.1:p.Gly163Glufs | NC_000023.10:g.153296790_153296791delCC | - | C0035372 312750 Rett syndrome; C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly | | |
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) | 4204 | MECP2 | Pathogenic | 28934906 | RCV000170109; RCV000012580; RCV000012581; RCV000169935; RCV000170110; RCV000133129; | N | ; MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:C1845336,OMIM:300496; MedGen:C1968556,OMIM:300673, Orphanet:ORPHA209370; MedGen:CN221809 | X | 153296806 | 153296806 | NM_004992.3:c.473C>T | NP_004983.1:p.Thr158Met | NC_000023.10:g.153296806G>A | OMIM Allelic Variant:300005.0007 | C0162635 105830 Angelman syndrome; C1845336 300496 Autism, susceptibility to, X-linked 3; CN221809 not provided; C0035372 312750 Rett syndrome; C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly | | |
NM_004992.3(MECP2):c.469T>A (p.Phe157Ile) | 4204 | MECP2 | Uncertain significance | 61748410 | RCV000170239; RCV000133123; | N | MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968556,OMIM:300673, Orphanet:ORPHA209370 | X | 153296810 | 153296810 | NM_004992.3:c.469T>A | NP_004983.1:p.Phe157Ile | NC_000023.10:g.153296810A>T | - | C0035372 312750 Rett syndrome; C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly | | |
NM_001110792.1(MECP2):c.414-3_419delCAGTCCCCA | 4204 | MECP2 | Pathogenic | 267608466 | RCV000170201; RCV000144116; | N | MedGen:C1968556,OMIM:300673, Orphanet:ORPHA209370; MedGen:CN221809 | X | 153296896 | 153296904 | NM_001110792.1:c.414-3_419delCAGTCCCCA | | NC_000023.10:g.153296896_153296904delTGGGGACTG | - | CN221809 not provided; C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly | | |
NM_004992.3(MECP2):c.377A>G (p.Asn126Ser) | 4204 | MECP2 | Uncertain significance | 786205037 | RCV000170271; | N | MedGen:C1968556,OMIM:300673, Orphanet:ORPHA209370 | X | 153297658 | 153297658 | NM_004992.3:c.377A>G | NP_004983.1:p.Asn126Ser | NC_000023.10:g.153297658T>C | - | C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly | | |
NM_004992.3(MECP2):c.119_120delAG (p.Glu40Glyfs) | 4204 | MECP2 | Pathogenic | 267608428 | RCV000170105; RCV000132959; | N | MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968556,OMIM:300673, Orphanet:ORPHA209370 | X | 153297915 | 153297916 | NM_004992.3:c.119_120delAG | NP_004983.1:p.Glu40Glyfs | NC_000023.10:g.153297915_153297916delCT | - | C0035372 312750 Rett syndrome; C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly | | |