Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Mental Retardation, X-Linked (D038901)
..Starting node ..Mental Retardation, X-Linked, Syndromic 13 (C566875)
Child Nodes:
Sister Nodes:
..Abidi X-linked mental retardation syndrome (C535556)
..Adrenoleukodystrophy (D000326) 4
..Aldred syndrome (C537046)
..Allan-Herndon-Dudley syndrome (C537047)
..Arena syndrome (C537428)
..Armfield X-Linked Mental Retardation Syndrome (C564551)
..Atkin syndrome (C538195)
..ATR-X syndrome (C538258)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Brooks-Wisniewski-Brown Syndrome (C563154)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..CK SYNDROME (OMIM:300831)
..Clark-Baraitser syndrome (C536208)
..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
..Coffin-Lowry Syndrome (D038921)
..Cowchock syndrome (C536450)
..Creatine deficiency, X-linked (C535598)
..Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
..Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
..Fragile X Syndrome (D005600) 3
..Glycogen Storage Disease Type IIb (D052120)
..Lesch-Nyhan Syndrome (D007926) 1
..Lubs X-linked mental retardation syndrome (C537723)
..Lujan Fryns syndrome (C537724)
..MEHMO syndrome (C537451)
..Menkes Kinky Hair Syndrome (D007706) 1
..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
..Mental retardation X-linked syndromic 7 (C537449)
..Mental retardation X-linked, South African type (C537450)
..Mental Retardation, X-Linked 1 (C567906)
..Mental retardation, X-linked 14 (C537454)
..Mental Retardation, X-Linked 16 (C563139)
..Mental Retardation, X-Linked 17 (C563140)
..Mental Retardation, X-Linked 19 (C563141)
..Mental Retardation, X-Linked 2 (C563135)
..Mental Retardation, X-Linked 20 (C563142)
..MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
..Mental Retardation, X-Linked 23 (C563144)
..Mental Retardation, X-Linked 3 (C563136)
..Mental Retardation, X-Linked 30 (C563146)
..Mental Retardation, X-Linked 31 (C563147)
..Mental Retardation, X-Linked 34 (C563148)
..Mental Retardation, X-Linked 42 (C564524)
..Mental Retardation, X-Linked 45 (C564503)
..Mental Retardation, X-Linked 46 (C564513)
..Mental Retardation, X-Linked 47 (C563151)
..MENTAL RETARDATION, X-LINKED 49 (OMIM:300114)
..Mental Retardation, X-Linked 50 (C564713)
..Mental Retardation, X-Linked 52 (C564502)
..Mental Retardation, X-Linked 53 (C564533)
..Mental Retardation, X-Linked 58 (C564566)
..Mental Retardation, X-Linked 59 (C564470)
..Mental Retardation, X-Linked 63 (C564522)
..Mental Retardation, X-Linked 72 (C564547)
..Mental Retardation, X-Linked 73 (C564528)
..Mental Retardation, X-Linked 77 (C564511)
..Mental Retardation, X-Linked 78 (C564489)
..Mental Retardation, X-Linked 79 (C566876)
..Mental Retardation, X-Linked 81 (C564515)
..Mental Retardation, X-Linked 82 (C564496)
..Mental Retardation, X-Linked 84 (C564501)
..Mental Retardation, X-Linked 89 (C564036)
..Mental Retardation, X-Linked 9 (C563137)
..Mental Retardation, X-Linked 91 (C564482)
..Mental Retardation, X-Linked 92 (C564483)
..Mental Retardation, X-Linked 93 (C567066)
..Mental Retardation, X-Linked 94 (C567479)
..Mental Retardation, X-Linked 95 (C567470)
..MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
..Mental Retardation, X-Linked Nonsyndromic (C564490)
..Mental Retardation, X-Linked, Syndromic 10 (C564560)
..Mental Retardation, X-Linked, Syndromic 13 (C566875)
..Mental Retardation, X-Linked, Syndromic 14 (C567063)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Mental Retardation, X-Linked, Syndromic 9 (C567474)
..Mental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
..Mental Retardation, X-Linked, Syndromic, Ube2a-Related (C564069)
..Mental Retardation, X-Linked, Syp-Related (C567584)
..Mental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
..Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (C537456)
..Mental Retardation, X-Linked, with Epilepsy (C564516)
..Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency (C564712)
..Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (C563150)
..Mental Retardation, X-Linked, with Short Stature (C564527)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Mental Retardation, X-Linked, With Spasticity (C566877)
..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..Microphthalmia, Syndromic 4 (C564457)
..Miles-Carpenter x-linked mental retardation syndrome (C537472)
..Mucopolysaccharidosis II (D016532)
..Opitz-Kaveggia syndrome (C537923)
..Orofaciodigital syndrome, Shashi type (C537135)
..Partington X-linked mental retardation syndrome (C536300)
..Plagiocephaly and X-linked mental retardation (C537512)
..Ppm-X Syndrome (C580387)
..Prieto X-linked mental retardation syndrome (C535274)
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Renpenning syndrome 1 (C537761)
..Rett Syndrome (D015518) 5
..Roifman syndrome (C535866)
..Schimke X-linked mental retardation syndrome (C536630)
..Siderius X-linked mental retardation syndrome (C537333)
..Snyder Robinson syndrome (C536678)
..Stocco dos Santos syndrome (C537495)
..Tranebjaerg Svejgaard syndrome (C536978)
..Wilson-Turner X-linked mental retardation syndrome (C536708)
..Wittwer syndrome (C536737)
..X-linked mental retardation Gustavson type (C536759)
..X-linked mental retardation type Wittwer (C536760)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7057

Name:

Mental Retardation, X-Linked, Syndromic 13

Definition:

Alternative IDs:

OMIM:300055

ParentIDs:

MESH:D038901

TreeNumbers:

C10.597.606.643.455/C566875 |C16.320.322.500/C566875 |C16.320.400.525/C566875

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C566875
MeSH: C566875
OMIM: 300055;

Genes: MECP2;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0000164	Abnormality of the dentition
3	HP:0001251	Ataxia
4	HP:0003487	Babinski sign
5	HP:0003763	Bruxism
6	HP:0001266	Choreoathetosis
7	HP:0000750	Delayed speech and language development
8	HP:0002307	Drooling
9	HP:0002353	EEG abnormality
10	HP:0003781	Excessive salivation
11	HP:0000297	Facial hypotonia
12	HP:0001263	Global developmental delay
13	HP:0000218	High palate
14	HP:0001347	Hyperreflexia
15	HP:0001256	Intellectual disability, mild
16	HP:0000053	Macroorchidism
17	HP:0000400	Macrotia
18	HP:0000252	Microcephaly
19	HP:0000347	Micrognathia
20	HP:0001300	Parkinsonism
21	HP:0001761	Pes cavus
22	HP:0000709	Psychosis
23	HP:0001250	Seizure
24	HP:0000470	Short neck
25	HP:0002362	Shuffling gait
26	HP:0003677	Slowly progressive
27	HP:0002064	Spastic gait
28	HP:0001337	Tremor

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_004992.3(MECP2):c.1415_1416delAG (p.Glu472Glyfs)	4204	MECP2	Pathogenic	267608634	RCV000133004;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153295863	153295864	NM_004992.3:c.1415_1416delAG	NP_004983.1:p.Glu472Glyfs	NC_000023.10:g.153295863_153295864delCT	-	C1968550 300055 Mental retardation, X-linked, syndromic 13
NM_004992.3(MECP2):c.1161_1400del240 (p.Pro388_Pro467del)	4204	MECP2	Uncertain significance	-1	RCV000170257;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153295879	153296118	NM_004992.3:c.1161_1400del240	NP_004983.1:p.Pro388_Pro467del		dbVar:nssv7487079,dbVar:nsv1197471	C1968550 300055 Mental retardation, X-linked, syndromic 13
NM_004992.3(MECP2):c.1358G>A (p.Arg453Gln)	4204	MECP2	Uncertain significance	61753980	RCV000132996;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153295921	153295921	NM_004992.3:c.1358G>A	NP_004983.1:p.Arg453Gln	NC_000023.10:g.153295921C>T	-	C1968550 300055 Mental retardation, X-linked, syndromic 13
NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr)	4204	MECP2	Likely pathogenic;Uncertain significance	193922677	RCV000030163; RCV000170261;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153295952	153295952	NM_004992.3:c.1327G>A	NP_004983.1:p.Ala443Thr	NC_000023.10:g.153295952C>T	-	C1968550 300055 Mental retardation, X-linked, syndromic 13; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1315G>A (p.Ala439Thr)	4204	MECP2	Benign;Uncertain significance	61753973	RCV000132986; RCV000170237; RCV000146352; RCV000170236;	N	MedGen:C1263846,OMIM:143465,SNOMED CT:406506008; MedGen:C1845336,OMIM:300496; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN169374	X	153295964	153295964	NM_004992.3:c.1315G>A	NP_004983.1:p.Ala439Thr	NC_000023.10:g.153295964C>A,NC_000023.10:g.153295964C>T	-	C1263846 143465 Attention deficit hyperactivity disorder; C1845336 300496 Autism, susceptibility to, X-linked 3; C1968550 300055 Mental retardation, X-linked, syndromic 13; CN169374 not specified
NM_001110792.1(MECP2):c.1269_1279delCGTCTGCAAAG (p.Ser423Argfs)	4204	MECP2	Uncertain significance	786205036	RCV000170260;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296036	153296046	NM_001110792.1:c.1269_1279delCGTCTGCAAAG	NP_001104262.1:p.Ser423Argfs	NC_000023.10:g.153296036_153296046delCTTTGCAGACG	-	C1968550 300055 Mental retardation, X-linked, syndromic 13
NM_004992.3(MECP2):c.1216C>T (p.Gln406Ter)	4204	MECP2	Pathogenic	61753965	RCV000169933; RCV000170106; RCV000132967;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN221809	X	153296063	153296063	NM_004992.3:c.1216C>T	NP_004983.1:p.Gln406Ter	NC_000023.10:g.153296063G>A	-	C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu)	4204	MECP2	Uncertain significance	61753016	RCV000169944; RCV000132964;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN169374	X	153296065	153296065	NM_004992.3:c.1214C>T	NP_004983.1:p.Pro405Leu	NC_000023.10:g.153296065G>A	-	C1968550 300055 Mental retardation, X-linked, syndromic 13; CN169374 not specified
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.1157_1197del41 (p.Leu386Hisfs)	4204	MECP2	Pathogenic	267608327	RCV000168701; RCV000169930; RCV000170099; RCV000132895;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1845336,OMIM:300496; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN221809	X	153296082	153296122	NM_004992.3:c.1157_1197del41	NP_004983.1:p.Leu386Hisfs	NC_000023.10:g.153296082_153296122del41	-	C1845336 300496 Autism, susceptibility to, X-linked 3; C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1180G>T (p.Glu394Ter)	4204	MECP2	Pathogenic	63094662	RCV000146349; RCV000012588;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296099	153296099	NM_004992.3:c.1180G>T	NP_004983.1:p.Glu394Ter	NC_000023.10:g.153296099C>A,NC_000023.10:g.153296099C>T	OMIM Allelic Variant:300005.0009	C1968550 300055 Mental retardation, X-linked, syndromic 13; C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1202dupC (p.Pro402Serfs)	4204	MECP2	Pathogenic	797044733	RCV000178226; RCV000178225;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296113	153296113	NM_001110792.1:c.1202dupC	NP_001104262.1:p.Pro402Serfs	NC_000023.10:g.153296113dupG	-	C1968550 300055 Mental retardation, X-linked, syndromic 13; C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1198_1199delCCinsTA (p.Pro400Ter)	4204	MECP2	Pathogenic	267608597	RCV000132921;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296116	153296117	NM_001110792.1:c.1198_1199delCCinsTA	NP_001104262.1:p.Pro400Ter	NC_000023.10:g.153296116_153296117delGGinsTA	-	C1968550 300055 Mental retardation, X-linked, syndromic 13
NM_004992.3(MECP2):c.1159_1160delCCinsT (p.Pro387Serfs)	4204	MECP2	Pathogenic	267608590	RCV000132904; RCV000170101;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296119	153296120	NM_004992.3:c.1159_1160delCCinsT	NP_004983.1:p.Pro387Serfs	NC_000023.10:g.153296119_153296120delGGinsA	-	C1968550 300055 Mental retardation, X-linked, syndromic 13; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu)	4204	MECP2	Uncertain significance	63390262	RCV000132908;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296119	153296119	NM_004992.3:c.1160C>T	NP_004983.1:p.Pro387Leu	NC_000023.10:g.153296119G>A	-	C1968550 300055 Mental retardation, X-linked, syndromic 13
NM_004992.3(MECP2):c.1151C>T (p.Pro384Leu)	4204	MECP2	Likely pathogenic;Uncertain significance	193922676	RCV000030162; RCV000170251;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296128	153296128	NM_004992.3:c.1151C>T	NP_004983.1:p.Pro384Leu	NC_000023.10:g.153296128G>A	-	C1968550 300055 Mental retardation, X-linked, syndromic 13; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1135_1142delCCCGTGCC (p.Pro379Thrfs)	4204	MECP2	Pathogenic	267608571	RCV000132867;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296137	153296144	NM_004992.3:c.1135_1142delCCCGTGCC	NP_004983.1:p.Pro379Thrfs	NC_000023.10:g.153296137_153296144delGGCACGGG	-	C1968550 300055 Mental retardation, X-linked, syndromic 13
NM_004992.3(MECP2):c.1138G>A (p.Val380Met)	4204	MECP2	Uncertain significance	267608572	RCV000169942; RCV000132870;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN221809	X	153296141	153296141	NM_004992.3:c.1138G>A	NP_004983.1:p.Val380Met	NC_000023.10:g.153296141C>T	-	C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided
NM_004992.3(MECP2):c.964C>T (p.Pro322Ser)	4204	MECP2	Pathogenic;Uncertain significance	61751449	RCV000012617;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296315	153296315	NM_004992.3:c.964C>T	NP_004983.1:p.Pro322Ser	NC_000023.10:g.153296315G>A,NC_000023.10:g.153296315G>C	OMIM Allelic Variant:300005.0035	C1968550 300055 Mental retardation, X-linked, syndromic 13
NM_004992.3(MECP2):c.932C>T (p.Thr311Met)	4204	MECP2	Uncertain significance	61751445	RCV000030168; RCV000133294;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296347	153296347	NM_004992.3:c.932C>T	NP_004983.1:p.Thr311Met	NC_000023.10:g.153296347G>A	-	C1968550 300055 Mental retardation, X-linked, syndromic 13; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp)	4204	MECP2	Pathogenic;Uncertain significance	61751444	RCV000170241; RCV000169947; RCV000170240; RCV000133293; RCV000193139;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1845336,OMIM:300496; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN169374; MedGen:CN221809	X	153296354	153296354	NM_004992.3:c.925C>T	NP_004983.1:p.Arg309Trp	NC_000023.10:g.153296354G>A	-	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
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys)	4204	MECP2	Pathogenic	28935468	RCV000202468; RCV000012597; RCV000178232; RCV000081218;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN221809	X	153296363	153296363	NM_004992.3:c.916C>T	NP_004983.1:p.Arg306Cys	NC_000023.10:g.153296363G>A	HGMD:CM993354,OMIM Allelic Variant:300005.0016	C0162635 105830 Angelman syndrome; C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.909C>G (p.Ile303Met)	4204	MECP2	Uncertain significance	61751439	RCV000030167; RCV000133285;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296370	153296370	NM_004992.3:c.909C>G	NP_004983.1:p.Ile303Met	NC_000023.10:g.153296370G>C	-	C1968550 300055 Mental retardation, X-linked, syndromic 13; C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter)	4204	MECP2	Likely pathogenic;Pathogenic;risk factor	61751362	RCV000012590; RCV000178233; RCV000012591; RCV000081215;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1845336,OMIM:300496; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN221809	X	153296399	153296399	NM_001110792.1:c.916C>T	NP_001104262.1:p.Arg306Ter	NC_000023.10:g.153296399G>A	HGMD:CM000750,OMIM Allelic Variant:300005.0011	C1845336 300496 Autism, susceptibility to, X-linked 3; C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.850A>G (p.Lys284Glu)	4204	MECP2	Uncertain significance	61750255	RCV000133254;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296429	153296429	NM_004992.3:c.850A>G	NP_004983.1:p.Lys284Glu	NC_000023.10:g.153296429T>C	-	C1968550 300055 Mental retardation, X-linked, syndromic 13
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.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.763C>T (p.Arg255Ter)	4204	MECP2	Pathogenic	61749721	RCV000012602; RCV000169938; RCV000081209;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN221809	X	153296516	153296516	NM_004992.3:c.763C>T	NP_004983.1:p.Arg255Ter	NC_000023.10:g.153296516G>A	HGMD:CM992179,OMIM Allelic Variant:300005.0021	C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.730C>T (p.Gln244Ter)	4204	MECP2	Pathogenic	61749747	RCV000168689; RCV000178228; RCV000081208;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN221809	X	153296549	153296549	NM_004992.3:c.730C>T	NP_004983.1:p.Gln244Ter	NC_000023.10:g.153296549G>A	HGMD:CM003767	C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.679C>G (p.Gln227Glu)	4204	MECP2	Uncertain significance	61749737	RCV000133197;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296600	153296600	NM_004992.3:c.679C>G	NP_004983.1:p.Gln227Glu	NC_000023.10:g.153296600G>C	-	C1968550 300055 Mental retardation, X-linked, syndromic 13
NM_004992.3(MECP2):c.674C>T (p.Pro225Leu)	4204	MECP2	Pathogenic;Uncertain significance	61749715	RCV000133194; RCV000012615;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296605	153296605	NM_004992.3:c.674C>T	NP_004983.1:p.Pro225Leu	NC_000023.10:g.153296605G>A,NC_000023.10:g.153296605G>C	OMIM Allelic Variant:300005.0033	C1968550 300055 Mental retardation, X-linked, syndromic 13; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.611C>G (p.Ser204Ter)	4204	MECP2	Pathogenic	61749724	RCV000169936; RCV000178230; RCV000081207;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN221809	X	153296668	153296668	NM_004992.3:c.611C>G	NP_004983.1:p.Ser204Ter	NC_000023.10:g.153296668G>C	HGMD:CM003456	C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.514C>T (p.Pro172Ser)	4204	MECP2	Uncertain significance	61748426	RCV000133146;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296765	153296765	NM_004992.3:c.514C>T	NP_004983.1:p.Pro172Ser	NC_000023.10:g.153296765G>A	-	C1968550 300055 Mental retardation, X-linked, syndromic 13
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp)	4204	MECP2	Pathogenic;Uncertain significance	61748420	RCV000193537; RCV000133142;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296780	153296780	NM_004992.3:c.499C>T	NP_004983.1:p.Arg167Trp	NC_000023.10:g.153296780G>A	-	C1968550 300055 Mental retardation, X-linked, syndromic 13; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.468C>G (p.Asp156Glu)	4204	MECP2	Pathogenic;Uncertain significance	61748408	RCV000169946; RCV000178229; RCV000081204;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN221809	X	153296811	153296811	NM_004992.3:c.468C>G	NP_004983.1:p.Asp156Glu	NC_000023.10:g.153296811G>A,NC_000023.10:g.153296811G>C	-	C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.454C>G (p.Pro152Ala)	4204	MECP2	Pathogenic	179363900	RCV000012618; RCV000133115;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:C2677682	X	153296825	153296825	NM_004992.3:c.454C>G	NP_004983.1:p.Pro152Ala	NC_000023.10:g.153296825G>C	OMIM Allelic Variant:300005.0036	C1968550 300055 Mental retardation, X-linked, syndromic 13; C2677682 Rett syndrome, zappella variant
NM_004992.3(MECP2):c.419C>T (p.Ala140Val)	4204	MECP2	Likely pathogenic;Pathogenic;Uncertain significance	28934908	RCV000020628; RCV000012596;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296860	153296860	NM_004992.3:c.419C>T	NP_004983.1:p.Ala140Val	NC_000023.10:g.153296860G>A	HGMD:CM003325,OMIM Allelic Variant:300005.0015	C1968550 300055 Mental retardation, X-linked, syndromic 13; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.410A>G (p.Glu137Gly)	4204	MECP2	Pathogenic	61748392	RCV000012598;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153296869	153296869	NM_004992.3:c.410A>G	NP_004983.1:p.Glu137Gly	NC_000023.10:g.153296869T>C	OMIM Allelic Variant:300005.0017	C1968550 300055 Mental retardation, X-linked, syndromic 13
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys)	4204	MECP2	Pathogenic	28934904	RCV000169934; RCV000012578; RCV000030666; RCV000170107; RCV000081202;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:C2677682; MedGen:CN221809	X	153296882	153296882	NM_004992.3:c.397C>T	NP_004983.1:p.Arg133Cys	NC_000023.10:g.153296882G>A,NC_000023.10:g.153296882G>C	HGMD:CM992176,OMIM Allelic Variant:300005.0001	C0162635 105830 Angelman syndrome; C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided; C0035372 312750 Rett syndrome; C2677682 Rett syndrome, zappella variant
NM_004992.3(MECP2):c.378-61C>G	4204	MECP2	Uncertain significance	191076920	RCV000170273; RCV000144117;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN221809	X	153296962	153296962	NM_004992.3:c.378-61C>G		NC_000023.10:g.153296962G>C	-	C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided
NM_004992.3(MECP2):c.377+24C>A	4204	MECP2	Uncertain significance	267608462	RCV000170268; RCV000144102;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN221809	X	153297634	153297634	NM_004992.3:c.377+24C>A		NC_000023.10:g.153297634G>T	-	C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided
NM_001110792.1(MECP2):c.49G>A (p.Glu17Lys)	4204	MECP2	Uncertain significance	786205046	RCV000170292;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153363074	153363074	NM_001110792.1:c.49G>A	NP_001104262.1:p.Glu17Lys	NC_000023.10:g.153363074C>T	-	C1968550 300055 Mental retardation, X-linked, syndromic 13
NM_001110792.1(MECP2):c.18_23delCGCCGC (p.Ala7_Ala8del)	4204	MECP2	Uncertain significance	587783129	RCV000170277; RCV000144800;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN221809	X	153363100	153363105	NM_001110792.1:c.18_23delCGCCGC	NP_001104262.1:p.Ala7_Ala8del	NC_000023.10:g.153363100_153363105delGCGGCG	-	C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided
NM_001110792.1(MECP2):c.15_23dupCGCCGCCGC (p.Ala8_Pro9insAlaAlaAla)	4204	MECP2	Uncertain significance	398123566	RCV000170276;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153363100	153363108	NM_001110792.1:c.15_23dupCGCCGCCGC	NP_001104262.1:p.Ala8_Pro9insAlaAlaAla	NC_000023.10:g.153363099_153363100insGCGGCG,NC_000023.10:g.153363100_153363102du	-	C1968550 300055 Mental retardation, X-linked, syndromic 13
NM_001110792.1(MECP2):c.-27_-26delAG	4204	MECP2	Uncertain significance	587783128	RCV000170283; RCV000144799;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN221809	X	153363148	153363149	NM_001110792.1:c.-27_-26delAG		NC_000023.10:g.153363148_153363149delCT	-	C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided
NM_001110792.1(MECP2):c.-27_-26delAGinsTT	4204	MECP2	Uncertain significance	786205039	RCV000170284;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153363148	153363149	NM_001110792.1:c.-27_-26delAGinsTT		NC_000023.10:g.153363148_153363149delCTinsAA	-	C1968550 300055 Mental retardation, X-linked, syndromic 13
NM_001110792.1(MECP2):c.-46_-45delGC	4204	MECP2	Uncertain significance	786205041	RCV000170287;	N	MedGen:C1968550,OMIM:300055,ORPHA:3077	X	153363167	153363168	NM_001110792.1:c.-46_-45delGC		NC_000023.10:g.153363167_153363168delGC	-	C1968550 300055 Mental retardation, X-linked, syndromic 13