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: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Mental Retardation, X-Linked (D038901)
..Starting node ..Rett Syndrome (D015518)
Child Nodes:
........Epileptic Encephalopathy, Early Infantile, 2 (C564064)
........Rett Syndrome, Atypical (C567576)
........RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
........Rett Syndrome, Preserved Speech Variant (C564063)
........Rett Syndrome, Zappella Variant (C567442)
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:

9804

Name:

Rett Syndrome

Definition:

An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)

Alternative IDs:

OMIM:312750

ParentIDs:

MESH:D020271|MESH:D038901

TreeNumbers:

C10.574.500.775 |C10.597.606.643.455.937 |C16.320.322.500.937 |C16.320.400.525.937 |C16.320.400.700

Synonyms:

Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use |AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE RETT SYNDROME, ZAPPELLA VARIANT, INCLUDED |Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome |Autism-Dementia-Ataxia-Loss of Purpo

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D015518
MeSH: D015518
OMIM: 312750;

Genes: MECP2;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0005135	Abnormal T-wave
3	HP:0000164	Abnormality of the dentition
4	HP:0000729	Autistic behavior
5	HP:0003763	Bruxism
6	HP:0004326	Cachexia
7	HP:0002120	Cerebral cortical atrophy
8	HP:0002019	Constipation
9	HP:0000726	Dementia
10	HP:0002376	Developmental regression
11	HP:0001332	Dystonia
12	HP:0002353	EEG abnormality
13	HP:0010521	Gait apraxia
14	HP:0002066	Gait ataxia
15	HP:0002020	Gastroesophageal reflux
16	HP:0002187	Intellectual disability, profound
17	HP:0004879	Intermittent hyperventilation
18	HP:0002808	Kyphosis
19	HP:0002333	Motor deterioration
20	HP:0005184	Prolonged QTc interval
21	HP:0002650	Scoliosis
22	HP:0005484	Secondary microcephaly
23	HP:0001250	Seizure
24	HP:0001773	Short foot
25	HP:0004322	Short stature
26	HP:0003202	Skeletal muscle atrophy
27	HP:0001257	Spasticity
28	HP:0002078	Truncal ataxia

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
NC_000023.10:g.153281346_153296256del14911	-1	-	Pathogenic	-1	RCV000170117;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153281346	153296256	-	-		dbVar:nssv7487043,dbVar:nsv1197494	C0035372 312750 Rett syndrome
NC_000023.10:g.153281940_153332471del50532insTTTCCGACAAAGGT	-1	-	Pathogenic	-1	RCV000170165;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153281940	153332471	-	-		dbVar:nssv7487044,dbVar:nsv1197495	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.27-12521_*5072del	4204	MECP2	Pathogenic	-1	RCV000170179;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153290746	153310529	NM_004992.3:c.27-12521_*5072del			dbVar:nssv7487064,dbVar:nsv1197456	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1078_*2524del2908	4204	MECP2	Pathogenic	-1	RCV000170127;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153293294	153296201	NM_004992.3:c.1078_*2524del2908			dbVar:nssv7487065,dbVar:nsv1197457	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1157_*944del1249	4204	MECP2	Pathogenic	-1	RCV000170145;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153294874	153296122	NM_004992.3:c.1157_*944del1249			dbVar:nssv7487066,dbVar:nsv1197458	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.27-4722_*739delins43	4204	MECP2	Pathogenic	-1	RCV000170183;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295079	153302730	NM_004992.3:c.27-4722_*739delins43			dbVar:nssv7487067,dbVar:nsv1197459	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1165_*568delinsCCGTGG	4204	MECP2	Pathogenic	-1	RCV000170140;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295250	153296150	NM_001110792.1:c.1165_*568delinsCCGTGG			dbVar:nssv7487068,dbVar:nsv1197460	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1146_*452del768	4204	MECP2	Pathogenic	-1	RCV000172868;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295366	153296133	NM_004992.3:c.1146_*452del768			-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.*122delT	4204	MECP2	Uncertain significance	267608342	RCV000132774;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295696	153295696	NM_004992.3:c.*122delT		NC_000023.10:g.153295696delA	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1193_*116del421	4204	MECP2	Pathogenic	-1	RCV000193697;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295702	153296122	NM_001110792.1:c.1193_*116del421			-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1276_*113del299ins3	4204	MECP2	Pathogenic	-1	RCV000193147; RCV000170156;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153295705	153296003	NM_004992.3:c.1276_*113del299ins3			dbVar:nssv7487070,dbVar:nsv1197462	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.27-4722_*112delinsCACTTTGTG	4204	MECP2	Pathogenic	-1	RCV000170182;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295706	153302730	NM_004992.3:c.27-4722_*112delinsCACTTTGTG			dbVar:nssv7487071,dbVar:nsv1197463	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.*92C>G	4204	MECP2	Uncertain significance	62621672	RCV000132818;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295726	153295726	NM_004992.3:c.*92C>G		NC_000023.10:g.153295726G>A,NC_000023.10:g.153295726G>C	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.863_*44del679	4204	MECP2	Likely pathogenic	-1	RCV000168711;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295774	153296452	NM_001110792.1:c.863_*44del679			-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1163_*39del338	4204	MECP2	Pathogenic	-1	RCV000170148;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295779	153296116	NM_004992.3:c.1163_*39del338			dbVar:nssv7487072,dbVar:nsv1197464	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1188_*29del339	4204	MECP2	Pathogenic	-1	RCV000170144;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295789	153296127	NM_001110792.1:c.1188_*29del339			dbVar:nssv7487073,dbVar:nsv1197465	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.*14G>A	4204	MECP2	Uncertain significance	199963992	RCV000169941; RCV000081189;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153295804	153295804	NM_004992.3:c.*14G>A		NC_000023.10:g.153295804C>T	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1097_*13del378	4204	MECP2	Pathogenic	-1	RCV000170129;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295805	153296182	NM_004992.3:c.1097_*13del378			dbVar:nssv7487075,dbVar:nsv1197467	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1450_*12del24	4204	MECP2	Pathogenic	267608637	RCV000133012;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295806	153295829	NM_004992.3:c.1450_*12del24		NC_000023.10:g.153295806_153295829del24	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.(?_1336)_*(1_?)del	4204	MECP2	Pathogenic	-1	RCV000170157;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295817	153295943	NM_004992.3:c.(?_1336)_*(1_?)del			dbVar:nssv7487045,dbVar:nsv1197496	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.(?_1169)_*(1_?)del	4204	MECP2	Pathogenic	-1	RCV000170104;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295817	153296110	NM_004992.3:c.(?_1169)_*(1_?)del			dbVar:nssv7487046,dbVar:nsv1197497	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.(?_378)_*(1_?)del	4204	MECP2	Pathogenic	-1	RCV000170193;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295817	153296901	NM_004992.3:c.(?_378)_*(1_?)del			dbVar:nssv7487047,dbVar:nsv1197498	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1461A>C (p.Ter487Cys)	4204	MECP2	Uncertain significance	267608642	RCV000133020;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295818	153295818	NM_004992.3:c.1461A>C	NP_004983.1:p.Ter487Cys	NC_000023.10:g.153295818T>C,NC_000023.10:g.153295818T>G	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.414_1497del1084 (p.Pro139Phefs)	4204	MECP2	Pathogenic	-1	RCV000170197;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295818	153296901	NM_001110792.1:c.414_1497del1084	NP_001104262.1:p.Pro139Phefs		dbVar:nssv7487076,dbVar:nsv1197468	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1159_1458del300 (p.Pro387_Ser486del)	4204	MECP2	Pathogenic	-1	RCV000170147;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295821	153296120	NM_004992.3:c.1159_1458del300	NP_004983.1:p.Pro387_Ser486del		dbVar:nssv7487077,dbVar:nsv1197469	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1490_1493delTTAG (p.Val497Alafs)	4204	MECP2	Likely pathogenic;Uncertain significance	267608640	RCV000168709;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295822	153295825	NM_001110792.1:c.1490_1493delTTAG	NP_001104262.1:p.Val497Alafs	NC_000023.10:g.153295822_153295825delCTAA	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1455_1456dupTA (p.Ser486Ilefs)	4204	MECP2	Pathogenic	267608641	RCV000133017;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295823	153295824	NM_004992.3:c.1455_1456dupTA	NP_004983.1:p.Ser486Ilefs	NC_000023.10:g.153295823_153295824dupTA	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1289_1492del204 (p.Met430_Val497del)	4204	MECP2	Pathogenic	-1	RCV000168706;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295823	153296026	NM_001110792.1:c.1289_1492del204	NP_001104262.1:p.Met430_Val497del		-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1450_1453delAGAG (p.Arg484Leufs)	4204	MECP2	Pathogenic	267608638	RCV000133013;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295826	153295829	NM_004992.3:c.1450_1453delAGAG	NP_004983.1:p.Arg484Leufs	NC_000023.10:g.153295826_153295829delCTCT	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1488_1489dupAG (p.Val497Glufs)	4204	MECP2	Pathogenic	267608639	RCV000133015;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295826	153295827	NM_001110792.1:c.1488_1489dupAG	NP_001104262.1:p.Val497Glufs	NC_000023.10:g.153295826_153295827dupCT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.(?_1044)_(1442_?)del (p.(?))	4204	MECP2	Pathogenic	-1	RCV000170122;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295837	153296235	NM_004992.3:c.(?_1044)_(1442_?)del	NP_004983.1:p.(?)		dbVar:nssv7487048,dbVar:nsv1197499	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1441G>A (p.Val481Met)	4204	MECP2	Likely benign;Uncertain significance	193922678	RCV000030164; RCV000194612;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN169374	X	153295838	153295838	NM_004992.3:c.1441G>A	NP_004983.1:p.Val481Met	NC_000023.10:g.153295838C>T	-	CN169374 not specified; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1410_1411delCA (p.Asn470Lysfs)	4204	MECP2	Likely pathogenic	786204316	RCV000168708;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295868	153295869	NM_004992.3:c.1410_1411delCA	NP_004983.1:p.Asn470Lysfs	NC_000023.10:g.153295868_153295869delTG	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1444_1447delAACAinsTG (p.Asn482Trpfs)	4204	MECP2	Pathogenic	786205023	RCV000170159;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295868	153295871	NM_001110792.1:c.1444_1447delAACAinsTG	NP_001104262.1:p.Asn482Trpfs	NC_000023.10:g.153295868_153295871delTGTTinsCA	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1439_1444delGGCCAA (p.Arg480_Pro481del)	4204	MECP2	Uncertain significance	267608632	RCV000133002;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295871	153295876	NM_001110792.1:c.1439_1444delGGCCAA	NP_001104262.1:p.Arg480_Pro481del	NC_000023.10:g.153295871_153295876delTTGGCC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.(?_1169)_(1397_?)del (p.(?))	4204	MECP2	Pathogenic	-1	RCV000170152;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295882	153296110	NM_004992.3:c.(?_1169)_(1397_?)del	NP_004983.1:p.(?)		dbVar:nssv7487049,dbVar:nsv1197500	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.(?_1017)_(1397_?)del (p.(?))	4204	MECP2	Pathogenic	-1	RCV000170116;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295882	153296262	NM_004992.3:c.(?_1017)_(1397_?)del	NP_004983.1:p.(?)		dbVar:nssv7487050,dbVar:nsv1197454	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1101_(1396_?)del (p.His(368_?)Alafs)	4204	MECP2	Pathogenic	-1	RCV000170132;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295883	153296178	NM_004992.3:c.1101_(1396_?)del	NP_004983.1:p.His(368_?)Alafs		-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)	4204	MECP2	Pathogenic	-1	RCV000192387; RCV000170212;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153295896	153296516	NM_004992.3:c.763_1383del621ins15	NP_004983.1:p.?		dbVar:nssv7487080,dbVar:nsv1197472	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1364_1365insC (p.Glu455Aspfs)	4204	MECP2	Pathogenic	267608627	RCV000132998;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295914	153295915	NM_004992.3:c.1364_1365insC	NP_004983.1:p.Glu455Aspfs	NC_000023.10:g.153295914_153295915insG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1363G>T (p.Glu455Ter)	4204	MECP2	Pathogenic	104894864	RCV000012607; RCV000132997;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153295916	153295916	NM_004992.3:c.1363G>T	NP_004983.1:p.Glu455Ter	NC_000023.10:g.153295916C>A	OMIM Allelic Variant:300005.0026	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1357C>T (p.Arg453Ter)	4204	MECP2	Pathogenic	61753979	RCV000132995;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295922	153295922	NM_004992.3:c.1357C>T	NP_004983.1:p.Arg453Ter	NC_000023.10:g.153295922G>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.994_1346del353 (p.Ser332Valfs)	4204	MECP2	Pathogenic	-1	RCV000170235;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295933	153296285	NM_004992.3:c.994_1346del353	NP_004983.1:p.Ser332Valfs		dbVar:nssv7487081,dbVar:nsv1197473	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1340C>T (p.Ala447Val)	4204	MECP2	Uncertain significance	61753978	RCV000132994;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295939	153295939	NM_004992.3:c.1340C>T	NP_004983.1:p.Ala447Val	NC_000023.10:g.153295939G>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.(?_378)_(1337_?)del (p.(?))	4204	MECP2	Pathogenic	-1	RCV000170196;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295942	153296901	NM_004992.3:c.(?_378)_(1337_?)del	NP_004983.1:p.(?)		dbVar:nssv7487051,dbVar:nsv1197455	C0035372 312750 Rett syndrome
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.1115_1326del212 (p.His372Argfs)	4204	MECP2	Pathogenic	-1	RCV000170134;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295953	153296164	NM_004992.3:c.1115_1326del212	NP_004983.1:p.His372Argfs		dbVar:nssv7487082,dbVar:nsv1197474	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1320dupT (p.Ala441Cysfs)	4204	MECP2	Pathogenic	267608624	RCV000132987;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295959	153295959	NM_004992.3:c.1320dupT	NP_004983.1:p.Ala441Cysfs	NC_000023.10:g.153295959dupA	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1308_1309delTC (p.Gln437Alafs)	4204	MECP2	Pathogenic	61753972	RCV000132985;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295970	153295971	NM_004992.3:c.1308_1309delTC	NP_004983.1:p.Gln437Alafs	NC_000023.10:g.153295970_153295971delGA	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1265_1289del25insAGCGGCCG (p.Gly422Glufs)	4204	MECP2	Pathogenic	63749064	RCV000132978;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295990	153296014	NM_004992.3:c.1265_1289del25insAGCGGCCG	NP_004983.1:p.Gly422Glufs	NC_000023.10:g.153295990_153296014del25insCGGCCGCT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1163_1283del121insAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro388Glnfs)	4204	MECP2	Pathogenic	-1	RCV000172864;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153295996	153296116	NM_004992.3:c.1163_1283del121insAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	NP_004983.1:p.Pro388Glnfs		-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.711_1269del559 (p.Gly238Trpfs)	4204	MECP2	Pathogenic	-1	RCV000170210;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296010	153296568	NM_004992.3:c.711_1269del559	NP_004983.1:p.Gly238Trpfs		dbVar:nssv7487083,dbVar:nsv1197475	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.998_1303del306insG (p.Lys333Serfs)	4204	MECP2	Pathogenic	-1	RCV000170233;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296012	153296317	NM_001110792.1:c.998_1303del306insG	NP_001104262.1:p.Lys333Serfs		dbVar:nssv7487084,dbVar:nsv1197476	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1196_1266del71 (p.Pro399Leufs)	4204	MECP2	Pathogenic	-1	RCV000170154;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296013	153296083	NM_004992.3:c.1196_1266del71	NP_004983.1:p.Pro399Leufs		dbVar:nssv7487085,dbVar:nsv1197385	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1223_1265del43 (p.Leu408Serfs)	4204	MECP2	Pathogenic	63749038	RCV000132968;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296014	153296056	NM_004992.3:c.1223_1265del43	NP_004983.1:p.Leu408Serfs	NC_000023.10:g.153296014_153296056del43	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1235_1260del26 (p.Val412Glyfs)	4204	MECP2	Pathogenic	267608617	RCV000132974;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296019	153296044	NM_004992.3:c.1235_1260del26	NP_004983.1:p.Val412Glyfs	NC_000023.10:g.153296019_153296044del26	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.849_1236del388 (p.Lys284Alafs)	4204	MECP2	Pathogenic	-1	RCV000170222;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296043	153296430	NM_004992.3:c.849_1236del388	NP_004983.1:p.Lys284Alafs		dbVar:nssv7487086,dbVar:nsv1197386	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?)	4204	MECP2	Uncertain significance	-1	RCV000170259;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296046	153296114	NM_004992.3:c.1165_1233del69ins21	NP_004983.1:p.?		dbVar:nssv7487087,dbVar:nsv1197387	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1229G>A (p.Ser410Asn)	4204	MECP2	Uncertain significance	267608616	RCV000132969;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296050	153296050	NM_004992.3:c.1229G>A	NP_004983.1:p.Ser410Asn	NC_000023.10:g.153296050C>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1142_1227del86 (p.Pro381Glnfs)	4204	MECP2	Pathogenic	-1	RCV000170143;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296052	153296137	NM_004992.3:c.1142_1227del86	NP_004983.1:p.Pro381Glnfs		dbVar:nssv7487088,dbVar:nsv1197388	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1105_1225del121 (p.His369Alafs)	4204	MECP2	Pathogenic	-1	RCV000170133;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296054	153296174	NM_004992.3:c.1105_1225del121	NP_004983.1:p.His369Alafs		dbVar:nssv7487089,dbVar:nsv1197389	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.903_1259del357insA (p.Ser303Glnfs)	4204	MECP2	Pathogenic	-1	RCV000170225;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296056	153296412	NM_001110792.1:c.903_1259del357insA	NP_001104262.1:p.Ser303Glnfs		dbVar:nssv7487090,dbVar:nsv1197390	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1057_1219del163 (p.Gly353Thrfs)	4204	MECP2	Pathogenic	-1	RCV000170126;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296060	153296222	NM_004992.3:c.1057_1219del163	NP_004983.1:p.Gly353Thrfs		dbVar:nssv7487091,dbVar:nsv1197391	C0035372 312750 Rett syndrome
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.1163_1216del54 (p.Pro388_Pro405del)	4204	MECP2	Uncertain significance	-1	RCV000170258;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296063	153296116	NM_004992.3:c.1163_1216del54	NP_004983.1:p.Pro388_Pro405del		dbVar:nssv7487092,dbVar:nsv1197392	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1164_1208del45 (p.Pro389_Pro403del)	4204	MECP2	Uncertain significance	267608605	RCV000132933;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296071	153296115	NM_004992.3:c.1164_1208del45	NP_004983.1:p.Pro389_Pro403del	NC_000023.10:g.153296071_153296115del45	-	C0035372 312750 Rett syndrome
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.1170_1207del38 (p.Pro391Terfs)	4204	MECP2	Pathogenic	267608609	RCV000192997; RCV000132940;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296072	153296109	NM_004992.3:c.1170_1207del38	NP_004983.1:p.Pro391Terfs	NC_000023.10:g.153296072_153296109del38	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1164_1206del43 (p.Pro389Leufs)	4204	MECP2	Pathogenic	267608603	RCV000132931;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296073	153296115	NM_004992.3:c.1164_1206del43	NP_004983.1:p.Pro389Leufs	NC_000023.10:g.153296073_153296115del43	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1046_1206del161 (p.Ser349Thrfs)	4204	MECP2	Pathogenic	-1	RCV000170123;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296073	153296233	NM_004992.3:c.1046_1206del161	NP_004983.1:p.Ser349Thrfs		dbVar:nssv7487094,dbVar:nsv1197394	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1161_1205del45insA (p.Pro389Terfs)	4204	MECP2	Pathogenic	267608596	RCV000132918;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296074	153296118	NM_004992.3:c.1161_1205del45insA	NP_004983.1:p.Pro389Terfs	NC_000023.10:g.153296074_153296118del45insT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.27-96_1205del	4204	MECP2	Pathogenic	-1	RCV000170188;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296074	153298104	NM_004992.3:c.27-96_1205del			dbVar:nssv7487095,dbVar:nsv1197395	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1117_1203del87 (p.Ser373_Ser401del)	4204	MECP2	Uncertain significance	-1	RCV000170249;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296076	153296162	NM_004992.3:c.1117_1203del87	NP_004983.1:p.Ser373_Ser401del		dbVar:nssv7487096,dbVar:nsv1197396	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1097_1203del107 (p.His366Profs)	4204	MECP2	Pathogenic	-1	RCV000170130;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296076	153296182	NM_004992.3:c.1097_1203del107	NP_004983.1:p.His366Profs		dbVar:nssv7487097,dbVar:nsv1197397	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1202dupG (p.Ser401Argfs)	4204	MECP2	Pathogenic	267608614	RCV000132962;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296077	153296077	NM_004992.3:c.1202dupG	NP_004983.1:p.Ser401Argfs	NC_000023.10:g.153296077dupC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1132_1202del71 (p.Ala378Profs)	4204	MECP2	Pathogenic	-1	RCV000170142;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296077	153296147	NM_004992.3:c.1132_1202del71	NP_004983.1:p.Ala378Profs		dbVar:nssv7487098,dbVar:nsv1197398	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1123_1202del80 (p.Ser375Profs)	4204	MECP2	Pathogenic	-1	RCV000170137;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296077	153296156	NM_004992.3:c.1123_1202del80	NP_004983.1:p.Ser375Profs		dbVar:nssv7487099,dbVar:nsv1197399	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1012_1202del191 (p.Thr338Profs)	4204	MECP2	Pathogenic	-1	RCV000170115;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296077	153296267	NM_004992.3:c.1012_1202del191	NP_004983.1:p.Thr338Profs		dbVar:nssv7487100,dbVar:nsv1197400	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1159_1201del43 (p.Pro387Alafs)	4204	MECP2	Pathogenic	63749030	RCV000132907;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296078	153296120	NM_004992.3:c.1159_1201del43	NP_004983.1:p.Pro387Alafs	NC_000023.10:g.153296078_153296120del43	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1116_1201del86 (p.His372Glnfs)	4204	MECP2	Pathogenic	-1	RCV000170135; RCV000144423;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296078	153296163	NM_004992.3:c.1116_1201del86	NP_004983.1:p.His372Glnfs		-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1101_1201del101 (p.His367Glnfs)	4204	MECP2	Pathogenic	-1	RCV000170131;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296078	153296178	NM_004992.3:c.1101_1201del101	NP_004983.1:p.His367Glnfs		dbVar:nssv7487102,dbVar:nsv1197402	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1096_1201del106 (p.His366Alafs)	4204	MECP2	Pathogenic	-1	RCV000170128;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296078	153296183	NM_004992.3:c.1096_1201del106	NP_004983.1:p.His366Alafs		dbVar:nssv7487103,dbVar:nsv1197403	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1155_1200del46 (p.Leu386Alafs)	4204	MECP2	Pathogenic	267608329	RCV000132886;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296079	153296124	NM_004992.3:c.1155_1200del46	NP_004983.1:p.Leu386Alafs	NC_000023.10:g.153296079_153296124del46	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1156_1200del45 (p.Leu386_Thr400del)	4204	MECP2	Uncertain significance	267608581	RCV000132890;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296079	153296123	NM_004992.3:c.1156_1200del45	NP_004983.1:p.Leu386_Thr400del	NC_000023.10:g.153296079_153296123del45	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1157_1200del44 (p.Leu386Glnfs)	4204	MECP2	Pathogenic	63749748	RCV000132897; RCV000170100;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	X	153296079	153296122	NM_004992.3:c.1157_1200del44	NP_004983.1:p.Leu386Glnfs	NC_000023.10:g.153296079_153296122del44	-	C0162635 105830 Angelman syndrome; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1158_1200del43 (p.Pro387Alafs)	4204	MECP2	Pathogenic	63009262	RCV000132902;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296079	153296121	NM_004992.3:c.1158_1200del43	NP_004983.1:p.Pro387Alafs	NC_000023.10:g.153296079_153296121del43	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1160_1200del41 (p.Pro387Glnfs)	4204	MECP2	Pathogenic	267608592	RCV000132913;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296079	153296119	NM_004992.3:c.1160_1200del41	NP_004983.1:p.Pro387Glnfs	NC_000023.10:g.153296079_153296119del41	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1167_1200del34 (p.Pro390Alafs)	4204	MECP2	Pathogenic	267608343	RCV000132937;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296079	153296112	NM_004992.3:c.1167_1200del34	NP_004983.1:p.Pro390Alafs	NC_000023.10:g.153296079_153296112del34	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1200dupC (p.Ser401Glnfs)	4204	MECP2	Pathogenic	267608613	RCV000132960;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296079	153296079	NM_004992.3:c.1200dupC	NP_004983.1:p.Ser401Glnfs	NC_000023.10:g.153296079dupG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1160_1200del41insAGGGGTGG (p.Pro387_Thr400delinsGlnGlyTrp)	4204	MECP2	Uncertain significance	786205035	RCV000170255;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296079	153296119	NM_004992.3:c.1160_1200del41insAGGGGTGG	NP_004983.1:p.Pro387_Thr400delinsGlnGlyTrp	NC_000023.10:g.153296079_153296119del41insCCACCCCT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1052_1200del149 (p.Pro351Glnfs)	4204	MECP2	Pathogenic	-1	RCV000170125;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296079	153296227	NM_004992.3:c.1052_1200del149	NP_004983.1:p.Pro351Glnfs		dbVar:nssv7487104,dbVar:nsv1197404	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1157_1199del43 (p.Leu386Profs)	4204	MECP2	Pathogenic	267608587	RCV000132896;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296080	153296122	NM_004992.3:c.1157_1199del43	NP_004983.1:p.Leu386Profs	NC_000023.10:g.153296080_153296122del43	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1084_1235del152 (p.Ser362Glnfs)	4204	MECP2	Pathogenic	-1	RCV000170124;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296080	153296231	NM_001110792.1:c.1084_1235del152	NP_001104262.1:p.Ser362Glnfs		dbVar:nssv7487105,dbVar:nsv1197405	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1158_1198del41 (p.Pro387Glnfs)	4204	MECP2	Pathogenic	267608588	RCV000132901;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296081	153296121	NM_004992.3:c.1158_1198del41	NP_004983.1:p.Pro387Glnfs	NC_000023.10:g.153296081_153296121del41	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1154_1197del44 (p.Pro385Hisfs)	4204	MECP2	Pathogenic	267608579	RCV000132883;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296082	153296125	NM_004992.3:c.1154_1197del44	NP_004983.1:p.Pro385Hisfs	NC_000023.10:g.153296082_153296125del44	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1156_1197del42 (p.Leu386_Pro399del)	4204	MECP2	Uncertain significance	267608583	RCV000132889;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296082	153296123	NM_004992.3:c.1156_1197del42	NP_004983.1:p.Leu386_Pro399del	NC_000023.10:g.153296082_153296123del42	-	C0035372 312750 Rett syndrome
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.1163_1197del35 (p.Pro388Hisfs)	4204	MECP2	Pathogenic	267608589	RCV000132928; RCV000132906;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296082	153296116	NM_004992.3:c.1163_1197del35	NP_004983.1:p.Pro388Hisfs	NC_000023.10:g.153296082_153296116del35	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1197dupC (p.Thr400Hisfs)	4204	MECP2	Pathogenic	267608612	RCV000132958;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296082	153296082	NM_004992.3:c.1197dupC	NP_004983.1:p.Thr400Hisfs	NC_000023.10:g.153296082dupG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1152_1195del44 (p.Pro385Hisfs)	4204	MECP2	Pathogenic	267608372	RCV000132880;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296084	153296127	NM_004992.3:c.1152_1195del44	NP_004983.1:p.Pro385Hisfs	NC_000023.10:g.153296084_153296127del44	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1194_1195insT (p.Pro399Serfs)	4204	MECP2	Pathogenic	61753011	RCV000132955;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296084	153296085	NM_004992.3:c.1194_1195insT	NP_004983.1:p.Pro399Serfs	NC_000023.10:g.153296084_153296085insA	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1039_1195del157insGT (p.Lys347Valfs)	4204	MECP2	Pathogenic	-1	RCV000170120;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296084	153296240	NM_004992.3:c.1039_1195del157insGT	NP_004983.1:p.Lys347Valfs		dbVar:nssv7487106,dbVar:nsv1197406	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1030_1195del166insGT (p.Arg344Valfs)	4204	MECP2	Pathogenic	-1	RCV000170119;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296084	153296249	NM_004992.3:c.1030_1195del166insGT	NP_004983.1:p.Arg344Valfs		dbVar:nssv7487107,dbVar:nsv1197407	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1145_1194del50 (p.Leu382Profs)	4204	MECP2	Pathogenic	267608573	RCV000132873;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296085	153296134	NM_004992.3:c.1145_1194del50	NP_004983.1:p.Leu382Profs	NC_000023.10:g.153296085_153296134del50	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1164_1194del31 (p.Pro391Alafs)	4204	MECP2	Pathogenic	786205020	RCV000170151;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296085	153296115	NM_004992.3:c.1164_1194del31	NP_004983.1:p.Pro391Alafs	NC_000023.10:g.153296085_153296115del31	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1043_1230del188 (p.Leu348Profs)	4204	MECP2	Pathogenic	-1	RCV000195245;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296085	153296272	NM_001110792.1:c.1043_1230del188	NP_001104262.1:p.Leu348Profs		-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1012_1193del182 (p.Thr338Profs)	4204	MECP2	Pathogenic	-1	RCV000170114;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296086	153296267	NM_004992.3:c.1012_1193del182	NP_004983.1:p.Thr338Profs		dbVar:nssv7487109,dbVar:nsv1197409	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1150_1192del43 (p.Pro384Thrfs)	4204	MECP2	Pathogenic	63749023	RCV000132875;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296087	153296129	NM_004992.3:c.1150_1192del43	NP_004983.1:p.Pro384Thrfs	NC_000023.10:g.153296087_153296129del43	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1151_1191del41 (p.Pro384Argfs)	4204	MECP2	Pathogenic	63749024	RCV000132878;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296088	153296128	NM_004992.3:c.1151_1191del41	NP_004983.1:p.Pro384Argfs	NC_000023.10:g.153296088_153296128del41	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1162_1191del30 (p.Pro388_Glu397del)	4204	MECP2	Uncertain significance	63749034	RCV000132923;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296088	153296117	NM_004992.3:c.1162_1191del30	NP_004983.1:p.Pro388_Glu397del	NC_000023.10:g.153296088_153296117del30	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1123_1191del69 (p.Ser375_Glu397del)	4204	MECP2	Uncertain significance	-1	RCV000170250;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296088	153296156	NM_004992.3:c.1123_1191del69	NP_004983.1:p.Ser375_Glu397del		dbVar:nssv7487110,dbVar:nsv1197410	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1121_1191del71 (p.Glu374Glyfs)	4204	MECP2	Pathogenic	-1	RCV000170136;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296088	153296158	NM_004992.3:c.1121_1191del71	NP_004983.1:p.Glu374Glyfs		dbVar:nssv7487111,dbVar:nsv1197411	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1153_1190del38 (p.Pro385Glyfs)	4204	MECP2	Pathogenic	267608577	RCV000132881;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296089	153296126	NM_004992.3:c.1153_1190del38	NP_004983.1:p.Pro385Glyfs	NC_000023.10:g.153296089_153296126del38	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1165_1190del26 (p.Pro389Glyfs)	4204	MECP2	Pathogenic	267608607	RCV000132935;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296089	153296114	NM_004992.3:c.1165_1190del26	NP_004983.1:p.Pro389Glyfs	NC_000023.10:g.153296089_153296114del26	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1190dupA (p.Asp398Glyfs)	4204	MECP2	Pathogenic	267608610	RCV000132954;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296089	153296089	NM_004992.3:c.1190dupA	NP_004983.1:p.Asp398Glyfs	NC_000023.10:g.153296089dupT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.27-6026_1190delinsGT	4204	MECP2	Pathogenic	-1	RCV000170185;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296089	153304034	NM_004992.3:c.27-6026_1190delinsGT			dbVar:nssv7487112,dbVar:nsv1197412	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.27-6215_1190del	4204	MECP2	Pathogenic	-1	RCV000170186;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296089	153304223	NM_004992.3:c.27-6215_1190del			dbVar:nssv7487113,dbVar:nsv1197413	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys)	4204	MECP2	Benign;Uncertain significance	56268439	RCV000202529; RCV000081194;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN169374	X	153296090	153296090	NM_004992.3:c.1189G>A	NP_004983.1:p.Glu397Lys	NC_000023.10:g.153296090C>A,NC_000023.10:g.153296090C>T	HGMD:CM035702	CN169374 not specified; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1189G>T (p.Glu397Ter)	4204	MECP2	Pathogenic	56268439	RCV000132951;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296090	153296090	NM_004992.3:c.1189G>T	NP_004983.1:p.Glu397Ter	NC_000023.10:g.153296090C>A,NC_000023.10:g.153296090C>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.488_1189del702 (p.Gly163_Ser396del)	4204	MECP2	Pathogenic	-1	RCV000170206;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296090	153296791	NM_004992.3:c.488_1189del702	NP_004983.1:p.Gly163_Ser396del		dbVar:nssv7487114,dbVar:nsv1197414	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.382_1189del808 (p.Gln128Argfs)	4204	MECP2	Pathogenic	-1	RCV000170203;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296090	153296897	NM_004992.3:c.382_1189del808	NP_004983.1:p.Gln128Argfs		dbVar:nssv7487115,dbVar:nsv1197415	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1151_1188del38 (p.Pro384Argfs)	4204	MECP2	Pathogenic	267608574	RCV000132877;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296091	153296128	NM_004992.3:c.1151_1188del38	NP_004983.1:p.Pro384Argfs	NC_000023.10:g.153296091_153296128del38	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1157_1188del32 (p.Leu386Argfs)	4204	MECP2	Pathogenic	267608585	RCV000168702;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296091	153296122	NM_004992.3:c.1157_1188del32	NP_004983.1:p.Leu386Argfs	NC_000023.10:g.153296091_153296122del32	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1160_1188del29 (p.Pro387Argfs)	4204	MECP2	Pathogenic	267608593	RCV000132912;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296091	153296119	NM_004992.3:c.1160_1188del29	NP_004983.1:p.Pro387Argfs	NC_000023.10:g.153296091_153296119del29	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1163_1188del26 (p.Pro388Argfs)	4204	MECP2	Pathogenic	267608600	RCV000132927;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296091	153296116	NM_004992.3:c.1163_1188del26	NP_004983.1:p.Pro388Argfs	NC_000023.10:g.153296091_153296116del26	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1153_1188del36 (p.Pro385_Ser396del)	4204	MECP2	Uncertain significance	786205033	RCV000170252;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296091	153296126	NM_004992.3:c.1153_1188del36	NP_004983.1:p.Pro385_Ser396del	NC_000023.10:g.153296091_153296126del36	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.851_1188del338 (p.Lys284Argfs)	4204	MECP2	Pathogenic	-1	RCV000170223;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296091	153296428	NM_004992.3:c.851_1188del338	NP_004983.1:p.Lys284Argfs		dbVar:nssv7487116,dbVar:nsv1197416	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1157_1187del31 (p.Leu386Profs)	4204	MECP2	Pathogenic	61754419	RCV000132891;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296092	153296122	NM_004992.3:c.1157_1187del31	NP_004983.1:p.Leu386Profs	NC_000023.10:g.153296092_153296122del31	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1158_1186del29 (p.Pro387Argfs)	4204	MECP2	Pathogenic	63749029	RCV000132899;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296093	153296121	NM_004992.3:c.1158_1186del29	NP_004983.1:p.Pro387Argfs	NC_000023.10:g.153296093_153296121del29	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1158_1186del29insCCA (p.Pro387Hisfs)	4204	MECP2	Pathogenic	386134271	RCV000132900;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296093	153296121	NM_004992.3:c.1158_1186del29insCCA	NP_004983.1:p.Pro387Hisfs	NC_000023.10:g.153296093_153296121del29insTGG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1154_1185del32 (p.Pro385Leufs)	4204	MECP2	Pathogenic	267608578	RCV000132882;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296094	153296125	NM_004992.3:c.1154_1185del32	NP_004983.1:p.Pro385Leufs	NC_000023.10:g.153296094_153296125del32	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1160_1185del26 (p.Pro387Leufs)	4204	MECP2	Pathogenic	267608591	RCV000132911;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296094	153296119	NM_004992.3:c.1160_1185del26	NP_004983.1:p.Pro387Leufs	NC_000023.10:g.153296094_153296119del26	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.(?_378)_(1185_?)del (p.(?))	4204	MECP2	Pathogenic	-1	RCV000170195;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296094	153296901	NM_004992.3:c.(?_378)_(1185_?)del	NP_004983.1:p.(?)		dbVar:nssv7487052,dbVar:nsv1197379	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1200_1220del21insCTGAGCCCCAGGACTTGAGCA (p.Pro401Ter)	4204	MECP2	Pathogenic	786205019	RCV000170150; RCV000170149;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1263846,OMIM:143465,SNOMED CT:406506008	X	153296095	153296115	NM_001110792.1:c.1200_1220del21insCTGAGCCCCAGGACTTGAGCA	NP_001104262.1:p.Pro401Ter	NC_000023.10:g.153296095_153296115del21insTGCTCAAGTCCTGGGGCTCAG	-	C1263846 143465 Attention deficit hyperactivity disorder; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.822_1184del363 (p.Val275_Ser395del)	4204	MECP2	Pathogenic	-1	RCV000170219;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296095	153296457	NM_004992.3:c.822_1184del363	NP_004983.1:p.Val275_Ser395del		dbVar:nssv7487117,dbVar:nsv1197417	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.27-3928_1184del	4204	MECP2	Pathogenic	-1	RCV000170181;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296095	153301936	NM_004992.3:c.27-3928_1184del			dbVar:nssv7487118,dbVar:nsv1197418	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1151_1183del33 (p.Pro384_Ser395delinsArg)	4204	MECP2	Uncertain significance	267608575	RCV000132876;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296096	153296128	NM_004992.3:c.1151_1183del33	NP_004983.1:p.Pro384_Ser395delinsArg	NC_000023.10:g.153296096_153296128del33	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1155_1183del29 (p.Pro387Argfs)	4204	MECP2	Pathogenic	267608580	RCV000132885;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296096	153296124	NM_004992.3:c.1155_1183del29	NP_004983.1:p.Pro387Argfs	NC_000023.10:g.153296096_153296124del29	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1180_1181insT (p.Glu394Valfs)	4204	MECP2	Pathogenic	786205021	RCV000170153;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296098	153296099	NM_004992.3:c.1180_1181insT	NP_004983.1:p.Glu394Valfs	NC_000023.10:g.153296098_153296099insA	-	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_004992.3(MECP2):c.1160_1180del21 (p.Pro387_Glu394delinsGln)	4204	MECP2	Uncertain significance	267608594	RCV000132910;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296099	153296119	NM_004992.3:c.1160_1180del21	NP_004983.1:p.Pro387_Glu394delinsGln	NC_000023.10:g.153296099_153296119del21	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1163_1179del17 (p.Pro388Argfs)	4204	MECP2	Pathogenic	267608601	RCV000132926;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296100	153296116	NM_004992.3:c.1163_1179del17	NP_004983.1:p.Pro388Argfs	NC_000023.10:g.153296100_153296116del17	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1127_1179del53 (p.Pro376Argfs)	4204	MECP2	Pathogenic	-1	RCV000170138;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296100	153296152	NM_004992.3:c.1127_1179del53	NP_004983.1:p.Pro376Argfs		dbVar:nssv7487120,dbVar:nsv1197420	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.767_1175del409 (p.Lys256Serfs)	4204	MECP2	Pathogenic	-1	RCV000170215;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296104	153296512	NM_004992.3:c.767_1175del409	NP_004983.1:p.Lys256Serfs		dbVar:nssv7487121,dbVar:nsv1197421	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1043_1173del131insTG (p.Glu348_Pro391delinsVal)	4204	MECP2	Uncertain significance	-1	RCV000170244;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296106	153296236	NM_004992.3:c.1043_1173del131insTG	NP_004983.1:p.Glu348_Pro391delinsVal		dbVar:nssv7487122,dbVar:nsv1197422	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1156_1172del17 (p.Leu386Terfs)	4204	MECP2	Pathogenic	267608582	RCV000132888;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296107	153296123	NM_004992.3:c.1156_1172del17	NP_004983.1:p.Leu386Terfs	NC_000023.10:g.153296107_153296123del17	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1200_1208delACCTCCACC (p.Pro401_Pro403del)	4204	MECP2	Uncertain significance	267608604	RCV000132930;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296107	153296115	NM_001110792.1:c.1200_1208delACCTCCACC	NP_001104262.1:p.Pro401_Pro403del	NC_000023.10:g.153296107_153296115delGGTGGAGGT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.914_1172del259 (p.Lys305Metfs)	4204	MECP2	Pathogenic	-1	RCV000170231;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296107	153296365	NM_004992.3:c.914_1172del259	NP_004983.1:p.Lys305Metfs		dbVar:nssv7487123,dbVar:nsv1197423	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.(?_378)_(1170_?)del (p.(?))	4204	MECP2	Pathogenic	-1	RCV000170194;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296109	153296901	NM_004992.3:c.(?_378)_(1170_?)del	NP_004983.1:p.(?)		dbVar:nssv7487053,dbVar:nsv1197380	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1194_1203delGCCCCCACCT (p.Pro399Hisfs)	4204	MECP2	Pathogenic	63583161	RCV000132898;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296112	153296121	NM_001110792.1:c.1194_1203delGCCCCCACCT	NP_001104262.1:p.Pro399Hisfs	NC_000023.10:g.153296112_153296121delAGGTGGGGGC	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1196_1202delCCCCACC (p.Pro399Leufs)	4204	MECP2	Pathogenic	267608595	RCV000132909;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296113	153296119	NM_001110792.1:c.1196_1202delCCCCACC	NP_001104262.1:p.Pro399Leufs	NC_000023.10:g.153296113_153296119delGGTGGGG	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1191_1202delCCTGCCCCCACC (p.Leu398_Pro401del)	4204	MECP2	Uncertain significance	786205034	RCV000170253;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296113	153296124	NM_001110792.1:c.1191_1202delCCTGCCCCCACC	NP_001104262.1:p.Leu398_Pro401del	NC_000023.10:g.153296113_153296124delGGTGGGGGCAGG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.731_1166del436 (p.Gln244Leufs)	4204	MECP2	Pathogenic	-1	RCV000170211;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296113	153296548	NM_004992.3:c.731_1166del436	NP_004983.1:p.Gln244Leufs		dbVar:nssv7487124,dbVar:nsv1197424	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.934_1202del269 (p.Val312Serfs)	4204	MECP2	Pathogenic	-1	RCV000195048;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296113	153296381	NM_001110792.1:c.934_1202del269	NP_001104262.1:p.Val312Serfs		-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1164delA (p.Pro389Leufs)	4204	MECP2	Pathogenic	267608606	RCV000132934;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296115	153296115	NM_004992.3:c.1164delA	NP_004983.1:p.Pro389Leufs	NC_000023.10:g.153296115delT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1163C>T (p.Pro388Leu)	4204	MECP2	Uncertain significance	61753006	RCV000132924;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296116	153296116	NM_004992.3:c.1163C>T	NP_004983.1:p.Pro388Leu	NC_000023.10:g.153296116G>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1162C>T (p.Pro388Ser)	4204	MECP2	Uncertain significance	61753000	RCV000169943; RCV000132919;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN169374	X	153296117	153296117	NM_004992.3:c.1162C>T	NP_004983.1:p.Pro388Ser	NC_000023.10:g.153296117G>A,NC_000023.10:g.153296117G>C	-	CN169374 not specified; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1162C>G (p.Pro388Ala)	4204	MECP2	Benign;Uncertain significance	61753000	RCV000172866; RCV000144775;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN169374	X	153296117	153296117	NM_004992.3:c.1162C>G	NP_004983.1:p.Pro388Ala	NC_000023.10:g.153296117G>A,NC_000023.10:g.153296117G>C	-	CN169374 not specified; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1161C>T (p.Pro387=)	4204	MECP2	Benign	61750246	RCV000172863; RCV000081193;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN169374	X	153296118	153296118	NM_004992.3:c.1161C>T	NP_004983.1:p.Pro387=	NC_000023.10:g.153296118G>A	-	CN169374 not specified; C0035372 312750 Rett syndrome
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.1159_1160ins300 (p.?)	4204	MECP2	Uncertain significance	-1	RCV000170254;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296119	153296120	NM_004992.3:c.1159_1160ins300	NP_004983.1:p.?		-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1064_1194del131 (p.Gly355Alafs)	4204	MECP2	Pathogenic	-1	RCV000170118;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296121	153296251	NM_001110792.1:c.1064_1194del131	NP_001104262.1:p.Gly355Alafs		dbVar:nssv7487125,dbVar:nsv1197425	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.445_1194del750 (p.Glu149_Leu398del)	4204	MECP2	Pathogenic	-1	RCV000170204;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296121	153296870	NM_001110792.1:c.445_1194del750	NP_001104262.1:p.Glu149_Leu398del		dbVar:nssv7487126,dbVar:nsv1197426	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1156_1157dupCT (p.Pro387Cysfs)	4204	MECP2	Pathogenic	267608584	RCV000132887;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296122	153296123	NM_004992.3:c.1156_1157dupCT	NP_004983.1:p.Pro387Cysfs	NC_000023.10:g.153296122_153296123dupAG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1061_1156del96 (p.Arg354_Pro385del)	4204	MECP2	Uncertain significance	-1	RCV000170245;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296123	153296218	NM_004992.3:c.1061_1156del96	NP_004983.1:p.Arg354_Pro385del		dbVar:nssv7487127,dbVar:nsv1197427	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1188_1191delACCC (p.Pro397Cysfs)	4204	MECP2	Pathogenic	267608576	RCV000132879;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296124	153296127	NM_001110792.1:c.1188_1191delACCC	NP_001104262.1:p.Pro397Cysfs	NC_000023.10:g.153296124_153296127delGGGT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.820_1153del334ins67 (p.?)	4204	MECP2	Pathogenic	-1	RCV000170218;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296126	153296459	NM_004992.3:c.820_1153del334ins67	NP_004983.1:p.?		dbVar:nssv7487128,dbVar:nsv1197428	C0035372 312750 Rett syndrome
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.943_1140del198ins6	4204	MECP2	Pathogenic	-1	RCV000192590; RCV000170232;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296139	153296336	NM_004992.3:c.943_1140del198ins6			dbVar:nssv7487129,dbVar:nsv1197429	CN221809 not provided; C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.942_1174del233insAC (p.Ile315_Val392delinsLeu)	4204	MECP2	Pathogenic	-1	RCV000170230;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296141	153296373	NM_001110792.1:c.942_1174del233insAC	NP_001104262.1:p.Ile315_Val392delinsLeu		dbVar:nssv7487130,dbVar:nsv1197430	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1163_1173delCAAAGGCCCCC (p.Pro388Argfs)	4204	MECP2	Pathogenic	267608570	RCV000132862;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296142	153296152	NM_001110792.1:c.1163_1173delCAAAGGCCCCC	NP_001104262.1:p.Pro388Argfs	NC_000023.10:g.153296142_153296152delGGGGGCCTTTG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1133C>G (p.Ala378Gly)	4204	MECP2	Uncertain significance	201314910	RCV000132865;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296146	153296146	NM_004992.3:c.1133C>G	NP_004983.1:p.Ala378Gly	NC_000023.10:g.153296146G>A,NC_000023.10:g.153296146G>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.616_1122del507 (p.Gly206_Glu374del)	4204	MECP2	Pathogenic	-1	RCV000170208;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296157	153296663	NM_004992.3:c.616_1122del507	NP_004983.1:p.Gly206_Glu374del		dbVar:nssv7487131,dbVar:nsv1197431	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1099_1118del20 (p.His367Argfs)	4204	MECP2	Pathogenic	267608567	RCV000132854;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296161	153296180	NM_004992.3:c.1099_1118del20	NP_004983.1:p.His367Argfs	NC_000023.10:g.153296161_153296180del20	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1118C>G (p.Ser373Ter)	4204	MECP2	Pathogenic	267608569	RCV000193072; RCV000132859;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296161	153296161	NM_004992.3:c.1118C>G	NP_004983.1:p.Ser373Ter	NC_000023.10:g.153296161G>C	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1140_1142delCCA (p.His384del)	4204	MECP2	Uncertain significance	61752381	RCV000132856;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296173	153296175	NM_001110792.1:c.1140_1142delCCA	NP_001104262.1:p.His384del	NC_000023.10:g.153296173_153296175delTGG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.898_1099del202 (p.Val300Thrfs)	4204	MECP2	Pathogenic	-1	RCV000170229;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296180	153296381	NM_004992.3:c.898_1099del202	NP_004983.1:p.Val300Thrfs		dbVar:nssv7487132,dbVar:nsv1197432	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1048_1095del48 (p.Ser350_Glu365del)	4204	MECP2	Uncertain significance	267608562	RCV000132836;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296184	153296231	NM_004992.3:c.1048_1095del48	NP_004983.1:p.Ser350_Glu365del	NC_000023.10:g.153296184_153296231del48	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1093_1095delGAG (p.Glu365del)	4204	MECP2	Uncertain significance	786205032	RCV000170247;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296184	153296186	NM_004992.3:c.1093_1095delGAG	NP_004983.1:p.Glu365del	NC_000023.10:g.153296184_153296186delCTC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.894_1095del202 (p.Glu298Aspfs)	4204	MECP2	Pathogenic	-1	RCV000170228;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296184	153296385	NM_004992.3:c.894_1095del202	NP_004983.1:p.Glu298Aspfs		dbVar:nssv7487133,dbVar:nsv1197433	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1087A>T (p.Lys363Ter)	4204	MECP2	Pathogenic	61752375	RCV000132851;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296192	153296192	NM_004992.3:c.1087A>T	NP_004983.1:p.Lys363Ter	NC_000023.10:g.153296192T>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1079C>A (p.Ser360Ter)	4204	MECP2	Pathogenic	61752372	RCV000132847;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296200	153296200	NM_004992.3:c.1079C>A	NP_004983.1:p.Ser360Ter	NC_000023.10:g.153296200G>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1072G>A (p.Ala358Thr)	4204	MECP2	Benign	147017239	RCV000030161; RCV000132845;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN169374	X	153296207	153296207	NM_004992.3:c.1072G>A	NP_004983.1:p.Ala358Thr	NC_000023.10:g.153296207C>T	-	CN169374 not specified; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1069_1071delAGC (p.Ser357del)	4204	MECP2	Pathogenic	267608564	RCV000132844;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296208	153296210	NM_004992.3:c.1069_1071delAGC	NP_004983.1:p.Ser357del	NC_000023.10:g.153296208_153296210delGCT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1065C>A (p.Ser355Arg)	4204	MECP2	Uncertain significance	267608563	RCV000170246;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296214	153296214	NM_004992.3:c.1065C>A	NP_004983.1:p.Ser355Arg	NC_000023.10:g.153296214G>A,NC_000023.10:g.153296214G>T	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.907_1080del174 (p.Ile305_Ser362del)	4204	MECP2	Pathogenic	-1	RCV000170227;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296235	153296408	NM_001110792.1:c.907_1080del174	NP_001104262.1:p.Ile305_Ser362del		dbVar:nssv7487134,dbVar:nsv1197434	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1038C>G (p.Ser346Arg)	4204	MECP2	Pathogenic	61752365	RCV000132834;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296241	153296241	NM_004992.3:c.1038C>G	NP_004983.1:p.Ser346Arg	NC_000023.10:g.153296241G>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1030C>T (p.Arg344Trp)	4204	MECP2	Uncertain significance	61752361	RCV000132833;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296249	153296249	NM_004992.3:c.1030C>T	NP_004983.1:p.Arg344Trp	NC_000023.10:g.153296249G>A,NC_000023.10:g.153296249G>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1030C>G (p.Arg344Gly)	4204	MECP2	Uncertain significance	61752361	RCV000170243;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296249	153296249	NM_004992.3:c.1030C>G	NP_004983.1:p.Arg344Gly	NC_000023.10:g.153296249G>A,NC_000023.10:g.153296249G>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1009_1027del19 (p.Lys337Glyfs)	4204	MECP2	Pathogenic	267608559	RCV000132827;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296252	153296270	NM_004992.3:c.1009_1027del19	NP_004983.1:p.Lys337Glyfs	NC_000023.10:g.153296252_153296270del19	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1015T>C (p.Cys339Arg)	4204	MECP2	Uncertain significance	267608560	RCV000132830;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296264	153296264	NM_004992.3:c.1015T>C	NP_004983.1:p.Cys339Arg	NC_000023.10:g.153296264A>G	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.994_998delAGCGG (p.Ser332Glufs)	4204	MECP2	Pathogenic	267608558	RCV000133309;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296281	153296285	NM_004992.3:c.994_998delAGCGG	NP_004983.1:p.Ser332Glufs	NC_000023.10:g.153296281_153296285delCCGCT	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1025_10320delAGAAGAinsGCATCTTCTCCTCTTT (p.?)	4204	MECP2	Pathogenic	672601302	RCV000133306;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296285	153296290	NM_004992.3:c.989_994delAGAAGAinsGCATCTTCTCCTCTTT	NP_004983.1:p.Glu330Glyfs	NC_000023.10:g.153296285_153296290delTCTTCTinsAAAGAGGAGAAGATGC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.481_987del507ins8	4204	MECP2	Pathogenic	-1	RCV000170205;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296292	153296798	NM_004992.3:c.481_987del507ins8			dbVar:nssv7487135,dbVar:nsv1197435	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.982C>G (p.Leu328Val)	4204	MECP2	Uncertain significance	267608556	RCV000133302;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296297	153296297	NM_004992.3:c.982C>G	NP_004983.1:p.Leu328Val	NC_000023.10:g.153296297G>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.965C>T (p.Pro322Leu)	4204	MECP2	Uncertain significance	61751450	RCV000133300;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296314	153296314	NM_004992.3:c.965C>T	NP_004983.1:p.Pro322Leu	NC_000023.10:g.153296314G>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.964C>G (p.Pro322Ala)	4204	MECP2	Pathogenic;Uncertain significance	61751449	RCV000169949; RCV000133298;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296315	153296315	NM_004992.3:c.964C>G	NP_004983.1:p.Pro322Ala	NC_000023.10:g.153296315G>A,NC_000023.10:g.153296315G>C	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.953A>C (p.Glu318Ala)	4204	MECP2	Uncertain significance	61751448	RCV000169948; RCV000133297;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296326	153296326	NM_004992.3:c.953A>C	NP_004983.1:p.Glu318Ala	NC_000023.10:g.153296326T>G	HGMD:CM023419	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.834_939del106 (p.Ala279Serfs)	4204	MECP2	Pathogenic	-1	RCV000193006; RCV000170221;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296340	153296445	NM_004992.3:c.834_939del106	NP_004983.1:p.Ala279Serfs		dbVar:nssv7487136,dbVar:nsv1197436	CN221809 not provided; C0035372 312750 Rett syndrome
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.917G>A (p.Arg306His)	4204	MECP2	Pathogenic	61751443	RCV000133290;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296362	153296362	NM_004992.3:c.917G>A	NP_004983.1:p.Arg306His	NC_000023.10:g.153296362C>A,NC_000023.10:g.153296362C>T	-	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.914A>G (p.Lys305Arg)	4204	MECP2	Uncertain significance	61751441	RCV000133289;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296365	153296365	NM_004992.3:c.914A>G	NP_004983.1:p.Lys305Arg	NC_000023.10:g.153296365T>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.913A>G (p.Lys305Glu)	4204	MECP2	Uncertain significance	267608551	RCV000133288;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296366	153296366	NM_004992.3:c.913A>G	NP_004983.1:p.Lys305Glu	NC_000023.10:g.153296366T>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.910A>G (p.Lys304Glu)	4204	MECP2	Uncertain significance	61751440	RCV000133286;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296369	153296369	NM_004992.3:c.910A>G	NP_004983.1:p.Lys304Glu	NC_000023.10:g.153296369T>C	-	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.936_944delACTCCCCAT (p.Leu313_Ile315del)	4204	MECP2	Uncertain significance	267608545	RCV000133274;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296371	153296379	NM_001110792.1:c.936_944delACTCCCCAT	NP_001104262.1:p.Leu313_Ile315del	NC_000023.10:g.153296371_153296379delATGGGGAGT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.908T>G (p.Ile303Ser)	4204	MECP2	Uncertain significance	267608549	RCV000133284;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296371	153296371	NM_004992.3:c.908T>G	NP_004983.1:p.Ile303Ser	NC_000023.10:g.153296371A>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.906delC (p.Ile303Serfs)	4204	MECP2	Pathogenic	267608548	RCV000133283;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296373	153296373	NM_004992.3:c.906delC	NP_004983.1:p.Ile303Serfs	NC_000023.10:g.153296373delG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.905C>A (p.Pro302His)	4204	MECP2	Uncertain significance	61749723	RCV000133279;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296374	153296374	NM_004992.3:c.905C>A	NP_004983.1:p.Pro302His	NC_000023.10:g.153296374G>A,NC_000023.10:g.153296374G>C,NC_000023.10:g.153296374	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.905C>G (p.Pro302Arg)	4204	MECP2	Pathogenic	61749723	RCV000133280;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296374	153296374	NM_004992.3:c.905C>G	NP_004983.1:p.Pro302Arg	NC_000023.10:g.153296374G>A,NC_000023.10:g.153296374G>C,NC_000023.10:g.153296374	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu)	4204	MECP2	Uncertain significance	61749723	RCV000133281;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296374	153296374	NM_004992.3:c.905C>T	NP_004983.1:p.Pro302Leu	NC_000023.10:g.153296374G>A,NC_000023.10:g.153296374G>C,NC_000023.10:g.153296374	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.934_940delGTACTCC (p.Val312Profs)	4204	MECP2	Pathogenic	267608543	RCV000133272;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296375	153296381	NM_001110792.1:c.934_940delGTACTCC	NP_001104262.1:p.Val312Profs	NC_000023.10:g.153296375_153296381delGGAGTAC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.904C>A (p.Pro302Thr)	4204	MECP2	Uncertain significance	61751373	RCV000133276;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296375	153296375	NM_004992.3:c.904C>A	NP_004983.1:p.Pro302Thr	NC_000023.10:g.153296375G>A,NC_000023.10:g.153296375G>C,NC_000023.10:g.153296375	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.904C>G (p.Pro302Ala)	4204	MECP2	Uncertain significance	61751373	RCV000133277;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296375	153296375	NM_004992.3:c.904C>G	NP_004983.1:p.Pro302Ala	NC_000023.10:g.153296375G>A,NC_000023.10:g.153296375G>C,NC_000023.10:g.153296375	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.904C>T (p.Pro302Ser)	4204	MECP2	Uncertain significance	61751373	RCV000133278;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296375	153296375	NM_004992.3:c.904C>T	NP_004983.1:p.Pro302Ser	NC_000023.10:g.153296375G>A,NC_000023.10:g.153296375G>C,NC_000023.10:g.153296375	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.881_902del22 (p.Arg294Profs)	4204	MECP2	Pathogenic	267608540	RCV000133267;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296377	153296398	NM_004992.3:c.881_902del22	NP_004983.1:p.Arg294Profs	NC_000023.10:g.153296377_153296398del22	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.27-5774_902delinsGTGCCCGGACTGATGTCA	4204	MECP2	Pathogenic	-1	RCV000170184;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296377	153303782	NM_004992.3:c.27-5774_902delinsGTGCCCGGACTGATGTCA			dbVar:nssv7487137,dbVar:nsv1197437	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.934_937delGTAC (p.Val312Serfs)	4204	MECP2	Pathogenic	62701461	RCV000133271;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296378	153296381	NM_001110792.1:c.934_937delGTAC	NP_001104262.1:p.Val312Serfs	NC_000023.10:g.153296378_153296381delGTAC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.898G>A (p.Val300Ile)	4204	MECP2	Uncertain significance	61751370	RCV000030166; RCV000133270;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C1845336,OMIM:300496	X	153296381	153296381	NM_004992.3:c.898G>A	NP_004983.1:p.Val300Ile	NC_000023.10:g.153296381C>T	-	C1845336 300496 Autism, susceptibility to, X-linked 3; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.898delG (p.Val300Tyrfs)	4204	MECP2	Pathogenic	267608544	RCV000133273;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296381	153296381	NM_004992.3:c.898delG	NP_004983.1:p.Val300Tyrfs	NC_000023.10:g.153296381delC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.889C>T (p.Gln297Ter)	4204	MECP2	Pathogenic	61751367	RCV000133269;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296390	153296390	NM_004992.3:c.889C>T	NP_004983.1:p.Gln297Ter	NC_000023.10:g.153296390G>A	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.916_920delCGATC (p.Arg306Cysfs)	4204	MECP2	Pathogenic	61751364	RCV000133265;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296395	153296399	NM_001110792.1:c.916_920delCGATC	NP_001104262.1:p.Arg306Cysfs	NC_000023.10:g.153296395_153296399delGATCG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.883delT (p.Ser295Leufs)	4204	MECP2	Pathogenic	267608541	RCV000133268;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296396	153296396	NM_004992.3:c.883delT	NP_004983.1:p.Ser295Leufs	NC_000023.10:g.153296396delA	-	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_001110792.1(MECP2):c.905_916delAGTCTTCTATCCinsCACA (p.Glu302Alafs)	4204	MECP2	Pathogenic	786205031	RCV000170226;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296399	153296410	NM_001110792.1:c.905_916delAGTCTTCTATCCinsCACA	NP_001104262.1:p.Glu302Alafs	NC_000023.10:g.153296399_153296410delGGATAGAAGACTinsTGTG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.874_875insA (p.Ser292Tyrfs)	4204	MECP2	Pathogenic	61751361	RCV000133264;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296404	153296405	NM_004992.3:c.874_875insA	NP_004983.1:p.Ser292Tyrfs	NC_000023.10:g.153296404_153296405insT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.871T>G (p.Ser291Ala)	4204	MECP2	Uncertain significance	61751360	RCV000133263;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296408	153296408	NM_004992.3:c.871T>G	NP_004983.1:p.Ser291Ala	NC_000023.10:g.153296408A>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.869dupA (p.Ser291Valfs)	4204	MECP2	Pathogenic	267608538	RCV000133262;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296410	153296410	NM_004992.3:c.869dupA	NP_004983.1:p.Ser291Valfs	NC_000023.10:g.153296410dupT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.865_866delAA (p.Lys289Glyfs)	4204	MECP2	Pathogenic	267608536	RCV000133261;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296413	153296414	NM_004992.3:c.865_866delAA	NP_004983.1:p.Lys289Glyfs	NC_000023.10:g.153296413_153296414delTT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.865A>T (p.Lys289Ter)	4204	MECP2	Pathogenic	61750259	RCV000133260;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296414	153296414	NM_004992.3:c.865A>T	NP_004983.1:p.Lys289Ter	NC_000023.10:g.153296414T>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.856_859delAAAG (p.Lys286Profs)	4204	MECP2	Pathogenic	61750256	RCV000168696;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296420	153296423	NM_004992.3:c.856_859delAAAG	NP_004983.1:p.Lys286Profs	NC_000023.10:g.153296420_153296423delCTTT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.859G>C (p.Ala287Pro)	4204	MECP2	Uncertain significance	61750257	RCV000133258;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296420	153296420	NM_004992.3:c.859G>C	NP_004983.1:p.Ala287Pro	NC_000023.10:g.153296420C>G	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.855_859delGAAAGinsAAAAAAAAGACT (p.Ala287Lysfs)	4204	MECP2	Pathogenic	786205030	RCV000170224;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296420	153296424	NM_004992.3:c.855_859delGAAAGinsAAAAAAAAGACT	NP_004983.1:p.Ala287Lysfs	NC_000023.10:g.153296420_153296424delCTTTCinsAGTCTTTTTTTT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.836C>T (p.Ala279Val)	4204	MECP2	Uncertain significance	61750249	RCV000133252;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296443	153296443	NM_004992.3:c.836C>T	NP_004983.1:p.Ala279Val	NC_000023.10:g.153296443G>A	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.853_871dup19 (p.Ala291Glyfs)	4204	MECP2	Likely pathogenic	786204311	RCV000168693;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296444	153296462	NM_001110792.1:c.853_871dup19	NP_001104262.1:p.Ala291Glyfs	NC_000023.10:g.153296444_153296462dup19	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.816_832del17 (p.Gly273Argfs)	4204	MECP2	Pathogenic	63749012	RCV000133247;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296447	153296463	NM_004992.3:c.816_832del17	NP_004983.1:p.Gly273Argfs	NC_000023.10:g.153296447_153296463del17	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.830_831ins23 (p.?)	4204	MECP2	Pathogenic	786205029	RCV000170220;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296448	153296449	NM_004992.3:c.830_831ins23	NP_004983.1:p.?		-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.830delC (p.Ala277Glufs)	4204	MECP2	Pathogenic	61750247	RCV000133250;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296449	153296449	NM_004992.3:c.830delC	NP_004983.1:p.Ala277Glufs	NC_000023.10:g.153296449delG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.819G>T (p.Gly273=)	4204	MECP2	Benign	61750245	RCV000172862; RCV000133248;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN169374	X	153296460	153296460	NM_004992.3:c.819G>T	NP_004983.1:p.Gly273=	NC_000023.10:g.153296460C>A	-	CN169374 not specified; C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.848_854delAGCCGGG (p.Lys283Argfs)	4204	MECP2	Pathogenic	61750242	RCV000133245;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296461	153296467	NM_001110792.1:c.848_854delAGCCGGG	NP_001104262.1:p.Lys283Argfs	NC_000023.10:g.153296461_153296467delCCCGGCT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.785_818del34 (p.Gln262Argfs)	4204	MECP2	Pathogenic	786205028	RCV000170216;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296461	153296494	NM_004992.3:c.785_818del34	NP_004983.1:p.Gln262Argfs	NC_000023.10:g.153296461_153296494del34	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.810_813delAAAG (p.Lys271Argfs)	4204	MECP2	Pathogenic	267608529	RCV000133244;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296466	153296469	NM_004992.3:c.810_813delAAAG	NP_004983.1:p.Lys271Argfs	NC_000023.10:g.153296466_153296469delCTTT	-	C0035372 312750 Rett syndrome
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.799A>T (p.Lys267Ter)	4204	MECP2	Pathogenic	61750238	RCV000133240;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296480	153296480	NM_004992.3:c.799A>T	NP_004983.1:p.Lys267Ter	NC_000023.10:g.153296480T>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.792_793delTC (p.Pro265Glnfs)	4204	MECP2	Pathogenic	267608526	RCV000133238;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296486	153296487	NM_004992.3:c.792_793delTC	NP_004983.1:p.Pro265Glnfs	NC_000023.10:g.153296486_153296487delGA	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.784C>T (p.Gln262Ter)	4204	MECP2	Pathogenic	267608525	RCV000133237;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296495	153296495	NM_004992.3:c.784C>T	NP_004983.1:p.Gln262Ter	NC_000023.10:g.153296495G>A	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.790_818del29 (p.Gly264Serfs)	4204	MECP2	Likely pathogenic	786204310	RCV000168690;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296497	153296525	NM_001110792.1:c.790_818del29	NP_001104262.1:p.Gly264Serfs		-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.802_815dupAAAGCTGAGGCCGA (p.Asp272Glufs)	4204	MECP2	Pathogenic	267608524	RCV000133235;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296500	153296513	NM_001110792.1:c.802_815dupAAAGCTGAGGCCGA	NP_001104262.1:p.Asp272Glufs	NC_000023.10:g.153296500_153296513dupTCGGCCTCAGCTTT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.766A>T (p.Lys256Ter)	4204	MECP2	Pathogenic	786205027	RCV000170214;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296513	153296513	NM_004992.3:c.766A>T	NP_004983.1:p.Lys256Ter	NC_000023.10:g.153296513T>A	-	C0035372 312750 Rett syndrome
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_001110792.1(MECP2):c.792_799dupCAGGAAGC (p.Arg267Profs)	4204	MECP2	Pathogenic	61750235	RCV000133233;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296516	153296523	NM_001110792.1:c.792_799dupCAGGAAGC	NP_001104262.1:p.Arg267Profs	NC_000023.10:g.153296516_153296523dupGCTTCCTG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.734_759del26 (p.Val245Glufs)	4204	MECP2	Pathogenic	267608519	RCV000133213;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296520	153296545	NM_004992.3:c.734_759del26	NP_004983.1:p.Val245Glufs	NC_000023.10:g.153296520_153296545del26	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.756_759delCAGG (p.Arg253Serfs)	4204	MECP2	Pathogenic	267608523	RCV000133232;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296520	153296523	NM_004992.3:c.756_759delCAGG	NP_004983.1:p.Arg253Serfs	NC_000023.10:g.153296520_153296523delCCTG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.689_756del68 (p.Pro230Glnfs)	4204	MECP2	Pathogenic	-1	RCV000193082; RCV000170209;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296523	153296590	NM_004992.3:c.689_756del68	NP_004983.1:p.Pro230Glnfs		dbVar:nssv7487138,dbVar:nsv1197438	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.755delG (p.Gly252Alafs)	4204	MECP2	Pathogenic	61750233	RCV000133230;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296524	153296524	NM_004992.3:c.755delG	NP_004983.1:p.Gly252Alafs	NC_000023.10:g.153296524delC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.755dupG (p.Arg253Glnfs)	4204	MECP2	Pathogenic	61750232	RCV000133231;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296524	153296524	NM_004992.3:c.755dupG	NP_004983.1:p.Arg253Glnfs	NC_000023.10:g.153296524dupC	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.784_789delCGCCCCinsGGCCG (p.Arg262Glyfs)	4204	MECP2	Pathogenic	61750225	RCV000133219;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296526	153296531	NM_001110792.1:c.784_789delCGCCCCinsGGCCG	NP_001104262.1:p.Arg262Glyfs	NC_000023.10:g.153296526_153296531delGGGGCGinsCGGCC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.752_753dupCC (p.Gly252Profs)	4204	MECP2	Pathogenic	267608522	RCV000169937; RCV000133226;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296526	153296527	NM_004992.3:c.752_753dupCC	NP_004983.1:p.Gly252Profs	NC_000023.10:g.153296526_153296527dupGG,NC_000023.10:g.153296526dupG	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.753delC (p.Gly252Alafs)	4204	MECP2	Pathogenic	61750231	RCV000133228;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296526	153296526	NM_004992.3:c.753delC	NP_004983.1:p.Gly252Alafs	NC_000023.10:g.153296526delG	-	C0035372 312750 Rett syndrome
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_001110792.1(MECP2):c.783_787dupACGCC (p.Pro263Hisfs)	4204	MECP2	Pathogenic	61749751	RCV000133217;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296528	153296532	NM_001110792.1:c.783_787dupACGCC	NP_001104262.1:p.Pro263Hisfs	NC_000023.10:g.153296526dupG,NC_000023.10:g.153296528_153296532dupGGCGT	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.786delCinsTCAGGAAGCTT (p.Pro263Glnfs)	4204	MECP2	Pathogenic	267608521	RCV000133224;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296529	153296529	NM_001110792.1:c.786delCinsTCAGGAAGCTT	NP_001104262.1:p.Pro263Glnfs	NC_000023.10:g.153296529delGinsAAGCTTCCTGA	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.748_749insT (p.Arg250Leufs)	4204	MECP2	Pathogenic	61749752	RCV000133218;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296530	153296531	NM_004992.3:c.748_749insT	NP_004983.1:p.Arg250Leufs	NC_000023.10:g.153296530_153296531insA,NC_000023.10:g.153296531dupG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.748dupC (p.Arg250Profs)	4204	MECP2	Pathogenic	61749752	RCV000133220;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296531	153296531	NM_004992.3:c.748dupC	NP_004983.1:p.Arg250Profs	NC_000023.10:g.153296530_153296531insA,NC_000023.10:g.153296531dupG	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.772_779delATGGTGATinsGTG (p.Met258Valfs)	4204	MECP2	Pathogenic	267608520	RCV000194193; RCV000133215;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296536	153296543	NM_001110792.1:c.772_779delATGGTGATinsGTG	NP_001104262.1:p.Met258Valfs	NC_000023.10:g.153296536_153296543delATCACCATinsCAC	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.739delG (p.Val247Terfs)	4204	MECP2	Pathogenic	61749750	RCV000133216;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296540	153296540	NM_004992.3:c.739delG	NP_004983.1:p.Val247Terfs	NC_000023.10:g.153296540delC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.736_737insAT (p.Met246Asnfs)	4204	MECP2	Pathogenic	61749749	RCV000133214;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296542	153296543	NM_004992.3:c.736_737insAT	NP_004983.1:p.Met246Asnfs	NC_000023.10:g.153296542_153296543insAT	-	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.720dupC (p.Thr241Hisfs)	4204	MECP2	Pathogenic	267608518	RCV000133212;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296559	153296559	NM_004992.3:c.720dupC	NP_004983.1:p.Thr241Hisfs	NC_000023.10:g.153296559dupG	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.738_752delTGAGGGGGGTGGGGC (p.Glu247_Ala251del)	4204	MECP2	Likely pathogenic	786204309	RCV000168688;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296563	153296577	NM_001110792.1:c.738_752delTGAGGGGGGTGGGGC	NP_001104262.1:p.Glu247_Ala251del		-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.710delG (p.Gly237Valfs)	4204	MECP2	Pathogenic	61749743	RCV000012620;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296569	153296569	NM_004992.3:c.710delG	NP_004983.1:p.Gly237Valfs	NC_000023.10:g.153296569delC	OMIM Allelic Variant:300005.0038	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.710dupG (p.Gly238Trpfs)	4204	MECP2	Pathogenic	267608517	RCV000133208;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296569	153296569	NM_004992.3:c.710dupG	NP_004983.1:p.Gly238Trpfs	NC_000023.10:g.153296569dupC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.696delC (p.Lys233Argfs)	4204	MECP2	Pathogenic	61749741	RCV000133205;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296583	153296583	NM_004992.3:c.696delC	NP_004983.1:p.Lys233Argfs	NC_000023.10:g.153296583delG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.695delG (p.Gly232Alafs)	4204	MECP2	Pathogenic	63260260	RCV000133203;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296584	153296584	NM_004992.3:c.695delG	NP_004983.1:p.Gly232Alafs	NC_000023.10:g.153296584delC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.695dupG (p.Lys233Glnfs)	4204	MECP2	Pathogenic	267608516	RCV000133204;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296584	153296584	NM_004992.3:c.695dupG	NP_004983.1:p.Lys233Glnfs	NC_000023.10:g.153296584dupC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.686C>A (p.Ser229Ter)	4204	MECP2	Pathogenic	61749739	RCV000193948; RCV000133199;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296593	153296593	NM_004992.3:c.686C>A	NP_004983.1:p.Ser229Ter	NC_000023.10:g.153296593G>A,NC_000023.10:g.153296593G>T	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.677_678insA (p.Phe226Leufs)	4204	MECP2	Pathogenic	61749736	RCV000133196;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296601	153296602	NM_004992.3:c.677_678insA	NP_004983.1:p.Phe226Leufs	NC_000023.10:g.153296601_153296602insT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.676_677insA (p.Phe226Tyrfs)	4204	MECP2	Pathogenic	267608514	RCV000133195;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296602	153296603	NM_004992.3:c.676_677insA	NP_004983.1:p.Phe226Tyrfs	NC_000023.10:g.153296602_153296603insT	-	C0035372 312750 Rett syndrome
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.674C>G (p.Pro225Arg)	4204	MECP2	Pathogenic	61749715	RCV000133193;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296605	153296605	NM_004992.3:c.674C>G	NP_004983.1:p.Pro225Arg	NC_000023.10:g.153296605G>A,NC_000023.10:g.153296605G>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.673C>A (p.Pro225Thr)	4204	MECP2	Pathogenic	267608513	RCV000193090; RCV000133192;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296606	153296606	NM_004992.3:c.673C>A	NP_004983.1:p.Pro225Thr	NC_000023.10:g.153296606G>T	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.701_707dupTCAAGAT (p.Met236Ilefs)	4204	MECP2	Pathogenic	797045695	RCV000195260;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296608	153296614	NM_001110792.1:c.701_707dupTCAAGAT	NP_001104262.1:p.Met236Ilefs	NC_000023.10:g.153296608_153296614dupATCTTGA	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.654_657delGAAG (p.Lys219Serfs)	4204	MECP2	Pathogenic	61749734	RCV000133189;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296622	153296625	NM_004992.3:c.654_657delGAAG	NP_004983.1:p.Lys219Serfs	NC_000023.10:g.153296622_153296625delCTTC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?))	4204	MECP2	Uncertain significance	-1	RCV000170274;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296622	153296648	NM_004992.3:c.(?_631)_(657_?)dup	NP_004983.1:p.(?)		-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.635_655del21 (p.Val212_Lys219delinsGlu)	4204	MECP2	Uncertain significance	267608509	RCV000133185;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296624	153296644	NM_004992.3:c.635_655del21	NP_004983.1:p.Val212_Lys219delinsGlu	NC_000023.10:g.153296624_153296644del21	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.677_689delAGAAAAGTCCTGG (p.Glu226Glyfs)	4204	MECP2	Likely pathogenic	267608386	RCV000168686; RCV000133186;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296626	153296638	NM_001110792.1:c.677_689delAGAAAAGTCCTGG	NP_001104262.1:p.Glu226Glyfs	NC_000023.10:g.153296626_153296638delCCAGGACTTTTCT	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.651_652delTG (p.Gly218Glufs)	4204	MECP2	Pathogenic	267608510	RCV000133188;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296627	153296628	NM_004992.3:c.651_652delTG	NP_004983.1:p.Gly218Glufs	NC_000023.10:g.153296627_153296628delCA	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.649C>T (p.Pro217Ser)	4204	MECP2	Uncertain significance	786205894	RCV000172869;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296630	153296630	NM_004992.3:c.649C>T	NP_004983.1:p.Pro217Ser	NC_000023.10:g.153296630G>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.629A>T (p.Lys210Ile)	4204	MECP2	Uncertain significance	61749730	RCV000133182;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296650	153296650	NM_004992.3:c.629A>T	NP_004983.1:p.Lys210Ile	NC_000023.10:g.153296650T>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.622C>T (p.Gln208Ter)	4204	MECP2	Pathogenic	61749729	RCV000133181;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296657	153296657	NM_004992.3:c.622C>T	NP_004983.1:p.Gln208Ter	NC_000023.10:g.153296657G>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.620dupT (p.Gln208Alafs)	4204	MECP2	Pathogenic	61749728	RCV000133180;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296659	153296659	NM_004992.3:c.620dupT	NP_004983.1:p.Gln208Alafs	NC_000023.10:g.153296659dupA	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.617delG (p.Gly206Valfs)	4204	MECP2	Pathogenic	61749727	RCV000133179;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296662	153296662	NM_004992.3:c.617delG	NP_004983.1:p.Gly206Valfs	NC_000023.10:g.153296662delC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.613G>T (p.Glu205Ter)	4204	MECP2	Pathogenic	61749726	RCV000133176;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296666	153296666	NM_004992.3:c.613G>T	NP_004983.1:p.Glu205Ter	NC_000023.10:g.153296666C>A	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.647_648delCAinsAG (p.Ser216Ter)	4204	MECP2	Pathogenic	267608507	RCV000133175;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296667	153296668	NM_001110792.1:c.647_648delCAinsAG	NP_001104262.1:p.Ser216Ter	NC_000023.10:g.153296667_153296668delTGinsCT	-	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.608_609insA (p.Ser204Valfs)	4204	MECP2	Pathogenic	267608506	RCV000133173;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296670	153296671	NM_004992.3:c.608_609insA	NP_004983.1:p.Ser204Valfs	NC_000023.10:g.153296670_153296671insT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.602C>T (p.Ala201Val)	4204	MECP2	Benign;Pathogenic	61748381	RCV000202489; RCV000153477;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN169374	X	153296677	153296677	NM_004992.3:c.602C>T	NP_004983.1:p.Ala201Val	NC_000023.10:g.153296677G>A	HGMD:CM023816	CN169374 not specified; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.601dupG (p.Ala201Glyfs)	4204	MECP2	Pathogenic	267608503	RCV000133172;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296678	153296678	NM_004992.3:c.601dupG	NP_004983.1:p.Ala201Glyfs	NC_000023.10:g.153296678dupC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.598A>T (p.Lys200Ter)	4204	MECP2	Pathogenic	61749718	RCV000133171;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296681	153296681	NM_004992.3:c.598A>T	NP_004983.1:p.Lys200Ter	NC_000023.10:g.153296681T>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.592A>T (p.Arg198Ter)	4204	MECP2	Pathogenic	61749717	RCV000133169;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296687	153296687	NM_004992.3:c.592A>T	NP_004983.1:p.Arg198Ter	NC_000023.10:g.153296687T>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.574A>T (p.Lys192Ter)	4204	MECP2	Likely pathogenic;Pathogenic	193922679	RCV000030165;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296705	153296705	NM_004992.3:c.574A>T	NP_004983.1:p.Lys192Ter	NC_000023.10:g.153296705T>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.573delC (p.Ser194Alafs)	4204	MECP2	Likely pathogenic	786204307	RCV000168684;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296706	153296706	NM_004992.3:c.573delC	NP_004983.1:p.Ser194Alafs	NC_000023.10:g.153296706delG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.567dupA (p.Arg190Thrfs)	4204	MECP2	Pathogenic	61749709	RCV000133163;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296712	153296712	NM_004992.3:c.567dupA	NP_004983.1:p.Arg190Thrfs	NC_000023.10:g.153296712dupT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.566delG (p.Gly189Aspfs)	4204	MECP2	Pathogenic	61749708	RCV000133161;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296713	153296713	NM_004992.3:c.566delG	NP_004983.1:p.Gly189Aspfs	NC_000023.10:g.153296713delC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.566dupG (p.Arg190Thrfs)	4204	MECP2	Pathogenic	267608499	RCV000133162;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296713	153296713	NM_004992.3:c.566dupG	NP_004983.1:p.Arg190Thrfs	NC_000023.10:g.153296713dupC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.554delG (p.Gly185Alafs)	4204	MECP2	Pathogenic	61749707	RCV000133159;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296725	153296725	NM_004992.3:c.554delG	NP_004983.1:p.Gly185Alafs	NC_000023.10:g.153296725delC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.543_544delTC (p.Pro182Argfs)	4204	MECP2	Pathogenic	267608496	RCV000133157;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296735	153296736	NM_004992.3:c.543_544delTC	NP_004983.1:p.Pro182Argfs	NC_000023.10:g.153296735_153296736delGA	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.538A>T (p.Lys180Ter)	4204	MECP2	Pathogenic	267608495	RCV000133155;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296741	153296741	NM_004992.3:c.538A>T	NP_004983.1:p.Lys180Ter	NC_000023.10:g.153296741T>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.531delA (p.Lys177Asnfs)	4204	MECP2	Pathogenic	61749703	RCV000133154;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296748	153296748	NM_004992.3:c.531delA	NP_004983.1:p.Lys177Asnfs	NC_000023.10:g.153296748delT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.518C>G (p.Pro173Arg)	4204	MECP2	Pathogenic;Uncertain significance	267608492	RCV000192592; RCV000133149;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN169374	X	153296761	153296761	NM_004992.3:c.518C>G	NP_004983.1:p.Pro173Arg	NC_000023.10:g.153296761G>C	-	CN169374 not specified; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.517C>G (p.Pro173Ala)	4204	MECP2	Uncertain significance	61748427	RCV000133148;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296762	153296762	NM_004992.3:c.517C>G	NP_004983.1:p.Pro173Ala	NC_000023.10:g.153296762G>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.508C>T (p.Gln170Ter)	4204	MECP2	Pathogenic	61748425	RCV000133144;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296771	153296771	NM_004992.3:c.508C>T	NP_004983.1:p.Gln170Ter	NC_000023.10:g.153296771G>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter)	4204	MECP2	Pathogenic	61748421	RCV000012601; RCV000133143;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296777	153296777	NM_004992.3:c.502C>T	NP_004983.1:p.Arg168Ter	NC_000023.10:g.153296777G>A,NC_000023.10:g.153296777G>T	OMIM Allelic Variant:300005.0020	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.502C>A (p.Arg168=)	4204	MECP2	Pathogenic	61748421	RCV000170207;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296777	153296777	NM_004992.3:c.502C>A	NP_004983.1:p.Arg168=	NC_000023.10:g.153296777G>A,NC_000023.10:g.153296777G>T	-	C0035372 312750 Rett syndrome
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.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.484dupA (p.Arg162Lysfs)	4204	MECP2	Pathogenic	267608487	RCV000133139;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296795	153296795	NM_004992.3:c.484dupA	NP_004983.1:p.Arg162Lysfs	NC_000023.10:g.153296795dupT	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.520A>G (p.Arg174Gly)	4204	MECP2	Pathogenic	727505391	RCV000157062;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296795	153296795	NM_001110792.1:c.520A>G	NP_001104262.1:p.Arg174Gly	NC_000023.10:g.153296795T>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.483delG (p.Arg162Glufs)	4204	MECP2	Pathogenic	61748418	RCV000133138;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296796	153296796	NM_004992.3:c.483delG	NP_004983.1:p.Arg162Glufs	NC_000023.10:g.153296796delC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.482G>A (p.Gly161Glu)	4204	MECP2	Uncertain significance	61748417	RCV000133136;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296797	153296797	NM_004992.3:c.482G>A	NP_004983.1:p.Gly161Glu	NC_000023.10:g.153296797C>A,NC_000023.10:g.153296797C>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.482G>T (p.Gly161Val)	4204	MECP2	Uncertain significance	61748417	RCV000133137;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296797	153296797	NM_004992.3:c.482G>T	NP_004983.1:p.Gly161Val	NC_000023.10:g.153296797C>A,NC_000023.10:g.153296797C>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.480_481delTG (p.Gly161Glufs)	4204	MECP2	Pathogenic	267608486	RCV000133133;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296798	153296799	NM_004992.3:c.480_481delTG	NP_004983.1:p.Gly161Glufs	NC_000023.10:g.153296798_153296799delCA	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.481G>T (p.Gly161Trp)	4204	MECP2	Uncertain significance	61748416	RCV000133135;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296798	153296798	NM_004992.3:c.481G>T	NP_004983.1:p.Gly161Trp	NC_000023.10:g.153296798C>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.480delT (p.Arg162Glufs)	4204	MECP2	Pathogenic	61748415	RCV000133134;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296799	153296799	NM_004992.3:c.480delT	NP_004983.1:p.Arg162Glufs	NC_000023.10:g.153296799delA	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.475delG (p.Val159Terfs)	4204	MECP2	Pathogenic	267608485	RCV000133131;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296804	153296804	NM_004992.3:c.475delG	NP_004983.1:p.Val159Terfs	NC_000023.10:g.153296804delC	-	C0035372 312750 Rett syndrome
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.472A>G (p.Thr158Ala)	4204	MECP2	Uncertain significance	61748411	RCV000133128;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296807	153296807	NM_004992.3:c.472A>G	NP_004983.1:p.Thr158Ala	NC_000023.10:g.153296807T>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.470_471delTC (p.Phe157Tyrfs)	4204	MECP2	Pathogenic	267608483	RCV000133125;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296808	153296809	NM_004992.3:c.470_471delTC	NP_004983.1:p.Phe157Tyrfs	NC_000023.10:g.153296808_153296809delGA	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.471C>G (p.Phe157Leu)	4204	MECP2	Uncertain significance	267608484	RCV000133127;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296808	153296808	NM_004992.3:c.471C>G	NP_004983.1:p.Phe157Leu	NC_000023.10:g.153296808G>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.470dupT (p.Thr158Hisfs)	4204	MECP2	Pathogenic	267608482	RCV000133126;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296809	153296809	NM_004992.3:c.470dupT	NP_004983.1:p.Thr158Hisfs	NC_000023.10:g.153296809dupA	-	C0035372 312750 Rett syndrome
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_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.467A>C (p.Asp156Ala)	4204	MECP2	Uncertain significance	61748407	RCV000133120;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296812	153296812	NM_004992.3:c.467A>C	NP_004983.1:p.Asp156Ala	NC_000023.10:g.153296812T>C,NC_000023.10:g.153296812T>G	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.467A>G (p.Asp156Gly)	4204	MECP2	Uncertain significance	61748407	RCV000133121;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296812	153296812	NM_004992.3:c.467A>G	NP_004983.1:p.Asp156Gly	NC_000023.10:g.153296812T>C,NC_000023.10:g.153296812T>G	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.464T>C (p.Phe155Ser)	4204	MECP2	Pathogenic	28934905	RCV000012579;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296815	153296815	NM_004992.3:c.464T>C	NP_004983.1:p.Phe155Ser	NC_000023.10:g.153296815A>C,NC_000023.10:g.153296815A>G	OMIM Allelic Variant:300005.0002	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.464T>G (p.Phe155Cys)	4204	MECP2	Uncertain significance	28934905	RCV000170275; RCV000133119;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296815	153296815	NM_004992.3:c.464T>G	NP_004983.1:p.Phe155Cys	NC_000023.10:g.153296815A>C,NC_000023.10:g.153296815A>G	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.463T>A (p.Phe155Ile)	4204	MECP2	Uncertain significance	61748406	RCV000133117;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296816	153296816	NM_004992.3:c.463T>A	NP_004983.1:p.Phe155Ile	NC_000023.10:g.153296816A>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg)	4204	MECP2	Pathogenic	61748404	RCV000133116;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296824	153296824	NM_004992.3:c.455C>G	NP_004983.1:p.Pro152Arg	NC_000023.10:g.153296824G>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly)	4204	MECP2	Uncertain significance	61748403	RCV000133114;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296827	153296827	NM_004992.3:c.452A>G	NP_004983.1:p.Asp151Gly	NC_000023.10:g.153296827T>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.451delG (p.Asp151Thrfs)	4204	MECP2	Pathogenic	61748402	RCV000133113;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296828	153296828	NM_004992.3:c.451delG	NP_004983.1:p.Asp151Thrfs	NC_000023.10:g.153296828delC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.439delG (p.Asp147Thrfs)	4204	MECP2	Pathogenic	62952161	RCV000133112;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296840	153296840	NM_004992.3:c.439delG	NP_004983.1:p.Asp147Thrfs	NC_000023.10:g.153296840delC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.431delA (p.Lys144Argfs)	4204	MECP2	Pathogenic	61748400	RCV000133109;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296848	153296848	NM_004992.3:c.431delA	NP_004983.1:p.Lys144Argfs	NC_000023.10:g.153296848delT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.430A>T (p.Lys144Ter)	4204	MECP2	Pathogenic	61748399	RCV000133108;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296849	153296849	NM_004992.3:c.430A>T	NP_004983.1:p.Lys144Ter	NC_000023.10:g.153296849T>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.428_429insT (p.Glu143Aspfs)	4204	MECP2	Pathogenic	61748398	RCV000133107;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296850	153296851	NM_004992.3:c.428_429insT	NP_004983.1:p.Glu143Aspfs	NC_000023.10:g.153296850_153296851insA	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter)	4204	MECP2	Pathogenic	61748396	RCV000133106; RCV000170108; RCV000012606;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:C2748910, Orphanet:ORPHA3095	X	153296856	153296856	NM_004992.3:c.423C>G	NP_004983.1:p.Tyr141Ter	NC_000023.10:g.153296856G>C	OMIM Allelic Variant:300005.0025	C0162635 105830 Angelman syndrome; C2748910 Atypical Rett syndrome; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.422A>G (p.Tyr141Cys)	4204	MECP2	Uncertain significance	61748395	RCV000133104;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296857	153296857	NM_004992.3:c.422A>G	NP_004983.1:p.Tyr141Cys	NC_000023.10:g.153296857T>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.420delG (p.Tyr141Thrfs)	4204	MECP2	Pathogenic	267608476	RCV000133103;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296859	153296859	NM_004992.3:c.420delG	NP_004983.1:p.Tyr141Thrfs	NC_000023.10:g.153296859delC	-	C0035372 312750 Rett syndrome
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.413T>A (p.Leu138Ter)	4204	MECP2	Pathogenic	267608475	RCV000133100;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296866	153296866	NM_004992.3:c.413T>A	NP_004983.1:p.Leu138Ter	NC_000023.10:g.153296866A>G,NC_000023.10:g.153296866A>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.413T>C (p.Leu138Ser)	4204	MECP2	Uncertain significance	267608475	RCV000133101;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296866	153296866	NM_004992.3:c.413T>C	NP_004983.1:p.Leu138Ser	NC_000023.10:g.153296866A>G,NC_000023.10:g.153296866A>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.411delG (p.Glu137Aspfs)	4204	MECP2	Pathogenic	61748393	RCV000133099;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296868	153296868	NM_004992.3:c.411delG	NP_004983.1:p.Glu137Aspfs	NC_000023.10:g.153296868delC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.403A>G (p.Lys135Glu)	4204	MECP2	Uncertain significance	61748391	RCV000133097;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296876	153296876	NM_004992.3:c.403A>G	NP_004983.1:p.Lys135Glu	NC_000023.10:g.153296876T>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.401C>G (p.Ser134Cys)	4204	MECP2	Pathogenic	61748390	RCV000133095;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296878	153296878	NM_004992.3:c.401C>G	NP_004983.1:p.Ser134Cys	NC_000023.10:g.153296878G>A,NC_000023.10:g.153296878G>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.401C>T (p.Ser134Phe)	4204	MECP2	Uncertain significance	61748390	RCV000133096;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296878	153296878	NM_004992.3:c.401C>T	NP_004983.1:p.Ser134Phe	NC_000023.10:g.153296878G>A,NC_000023.10:g.153296878G>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.400T>C (p.Ser134Pro)	4204	MECP2	Uncertain significance	267608471	RCV000133094;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296879	153296879	NM_004992.3:c.400T>C	NP_004983.1:p.Ser134Pro	NC_000023.10:g.153296879A>G	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.398G>A (p.Arg133His)	4204	MECP2	Pathogenic;Uncertain significance	61748389	RCV000169945; RCV000133092;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296881	153296881	NM_004992.3:c.398G>A	NP_004983.1:p.Arg133His	NC_000023.10:g.153296881C>A,NC_000023.10:g.153296881C>T	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.398G>T (p.Arg133Leu)	4204	MECP2	Uncertain significance	61748389	RCV000133093;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296881	153296881	NM_004992.3:c.398G>T	NP_004983.1:p.Arg133Leu	NC_000023.10:g.153296881C>A,NC_000023.10:g.153296881C>T	-	C0035372 312750 Rett syndrome
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.397C>G (p.Arg133Gly)	4204	MECP2	Uncertain significance	28934904	RCV000133091;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296882	153296882	NM_004992.3:c.397C>G	NP_004983.1:p.Arg133Gly	NC_000023.10:g.153296882G>A,NC_000023.10:g.153296882G>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.392C>A (p.Ala131Asp)	4204	MECP2	Uncertain significance	267608470	RCV000133089;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296887	153296887	NM_004992.3:c.392C>A	NP_004983.1:p.Ala131Asp	NC_000023.10:g.153296887G>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.390delA (p.Ala131Profs)	4204	MECP2	Pathogenic	786205895	RCV000172870;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296889	153296889	NM_004992.3:c.390delA	NP_004983.1:p.Ala131Profs	NC_000023.10:g.153296889delT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.386G>T (p.Gly129Val)	4204	MECP2	Uncertain significance	61748384	RCV000133088;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296893	153296893	NM_004992.3:c.386G>T	NP_004983.1:p.Gly129Val	NC_000023.10:g.153296893C>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.383A>C (p.Gln128Pro)	4204	MECP2	Uncertain significance	61748383	RCV000133087;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296896	153296896	NM_004992.3:c.383A>C	NP_004983.1:p.Gln128Pro	NC_000023.10:g.153296896T>G	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.382C>T (p.Gln128Ter)	4204	MECP2	Pathogenic	267608469	RCV000133086;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296897	153296897	NM_004992.3:c.382C>T	NP_004983.1:p.Gln128Ter	NC_000023.10:g.153296897G>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.380C>T (p.Pro127Leu)	4204	MECP2	Uncertain significance	267608387	RCV000133085;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296899	153296899	NM_004992.3:c.380C>T	NP_004983.1:p.Pro127Leu	NC_000023.10:g.153296899G>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.378-2A>C	4204	MECP2	Pathogenic	267608464	RCV000170198; RCV000144112;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296903	153296903	NM_004992.3:c.378-2A>C		NC_000023.10:g.153296903T>A,NC_000023.10:g.153296903T>C,NC_000023.10:g.153296903	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.378-2A>G	4204	MECP2	Pathogenic	267608464	RCV000170199; RCV000144113;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296903	153296903	NM_004992.3:c.378-2A>G		NC_000023.10:g.153296903T>A,NC_000023.10:g.153296903T>C,NC_000023.10:g.153296903	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.378-2A>T	4204	MECP2	Pathogenic	267608464	RCV000170200; RCV000144114;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296903	153296903	NM_004992.3:c.378-2A>T		NC_000023.10:g.153296903T>A,NC_000023.10:g.153296903T>C,NC_000023.10:g.153296903	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.378-3C>G	4204	MECP2	Pathogenic	267608465	RCV000170202; RCV000144115;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296904	153296904	NM_004992.3:c.378-3C>G		NC_000023.10:g.153296904G>C	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.378-14G>A	4204	MECP2	Uncertain significance	267608467	RCV000170272; RCV000144109;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153296915	153296915	NM_004992.3:c.378-14G>A		NC_000023.10:g.153296915C>T	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.378-17delT	4204	MECP2	Benign;Likely benign;Uncertain significance	61753982	RCV000202549; RCV000144110; RCV000168682;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN169374; MedGen:CN221809	X	153296918	153296918	NM_004992.3:c.378-17delT		NC_000023.10:g.153296918delA	-	CN221809 not provided; CN169374 not specified; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.378-42A>G	4204	MECP2	Likely benign	786205893	RCV000172867;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153296943	153296943	NM_004992.3:c.378-42A>G		NC_000023.10:g.153296943T>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.377+28A>G	4204	MECP2	Benign	185036026	RCV000172865; RCV000144104; RCV000168681;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN169374; MedGen:CN221809	X	153297630	153297630	NM_004992.3:c.377+28A>G		NC_000023.10:g.153297630T>C	-	CN221809 not provided; CN169374 not specified; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.377+2T>G	4204	MECP2	Uncertain significance	267608458	RCV000170269; RCV000144105;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153297656	153297656	NM_004992.3:c.377+2T>G		NC_000023.10:g.153297656A>C	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.377+1G>A	4204	MECP2	Pathogenic	267608463	RCV000170191; RCV000144099;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153297657	153297657	NM_004992.3:c.377+1G>A		NC_000023.10:g.153297657C>A,NC_000023.10:g.153297657C>T	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.377+1G>T	4204	MECP2	Pathogenic	267608463	RCV000170192; RCV000144100;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153297657	153297657	NM_004992.3:c.377+1G>T		NC_000023.10:g.153297657C>A,NC_000023.10:g.153297657C>T	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.375delC (p.Asn126Ilefs)	4204	MECP2	Pathogenic	267608457	RCV000133084;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297660	153297660	NM_004992.3:c.375delC	NP_004983.1:p.Asn126Ilefs	NC_000023.10:g.153297660delG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.372G>C (p.Leu124Phe)	4204	MECP2	Uncertain significance	61755763	RCV000133082;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297663	153297663	NM_004992.3:c.372G>C	NP_004983.1:p.Leu124Phe	NC_000023.10:g.153297663C>A,NC_000023.10:g.153297663C>G	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.372G>T (p.Leu124Phe)	4204	MECP2	Uncertain significance	61755763	RCV000133083;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297663	153297663	NM_004992.3:c.372G>T	NP_004983.1:p.Leu124Phe	NC_000023.10:g.153297663C>A,NC_000023.10:g.153297663C>G	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.(?_27)_(367_?)del (p.(?))	4204	MECP2	Pathogenic	-1	RCV000170177;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297668	153298008	NM_004992.3:c.(?_27)_(367_?)del	NP_004983.1:p.(?)		dbVar:nssv7487054,dbVar:nsv1197381	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.364G>A (p.Val122Met)	4204	MECP2	Uncertain significance	267608455	RCV000133079;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297671	153297671	NM_004992.3:c.364G>A	NP_004983.1:p.Val122Met	NC_000023.10:g.153297671C>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.358T>G (p.Tyr120Asp)	4204	MECP2	Uncertain significance	267608454	RCV000133076;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297677	153297677	NM_004992.3:c.358T>G	NP_004983.1:p.Tyr120Asp	NC_000023.10:g.153297677A>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.345delC (p.Ser116Leufs)	4204	MECP2	Pathogenic	61755761	RCV000133075;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297690	153297690	NM_004992.3:c.345delC	NP_004983.1:p.Ser116Leufs	NC_000023.10:g.153297690delG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.341G>C (p.Gly114Ala)	4204	MECP2	Uncertain significance	61755760	RCV000133073;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297694	153297694	NM_004992.3:c.341G>C	NP_004983.1:p.Gly114Ala	NC_000023.10:g.153297694C>G	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.331A>G (p.Arg111Gly)	4204	MECP2	Uncertain significance	61754459	RCV000133071;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297704	153297704	NM_004992.3:c.331A>G	NP_004983.1:p.Arg111Gly	NC_000023.10:g.153297704T>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.326dupA (p.Gln110Alafs)	4204	MECP2	Pathogenic	267608452	RCV000133070;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297709	153297709	NM_004992.3:c.326dupA	NP_004983.1:p.Gln110Alafs	NC_000023.10:g.153297709dupT	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.347_359delGGACACGGAAGCT (p.Trp116Leufs)	4204	MECP2	Pathogenic	63749010	RCV000133063;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297712	153297724	NM_001110792.1:c.347_359delGGACACGGAAGCT	NP_001104262.1:p.Trp116Leufs	NC_000023.10:g.153297712_153297724delAGCTTCCGTGTCC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.323T>A (p.Leu108His)	4204	MECP2	Uncertain significance	61754458	RCV000133069;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297712	153297712	NM_004992.3:c.323T>A	NP_004983.1:p.Leu108His	NC_000023.10:g.153297712A>G,NC_000023.10:g.153297712A>T	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.354_357dupGAAG (p.Leu120Glufs)	4204	MECP2	Pathogenic	786205025	RCV000170189;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297714	153297717	NM_001110792.1:c.354_357dupGAAG	NP_001104262.1:p.Leu120Glufs	NC_000023.10:g.153297714_153297717dupCTTC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.(?_248)_(320_?)del (p.(?))	4204	MECP2	Pathogenic	-1	RCV000170163;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297715	153297787	NM_004992.3:c.(?_248)_(320_?)del	NP_004983.1:p.(?)		dbVar:nssv7487055,dbVar:nsv1197382	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.317G>A (p.Arg106Gln)	4204	MECP2	Pathogenic	61754457	RCV000133067;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297718	153297718	NM_004992.3:c.317G>A	NP_004983.1:p.Arg106Gln	NC_000023.10:g.153297718C>A,NC_000023.10:g.153297718C>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.317G>T (p.Arg106Leu)	4204	MECP2	Uncertain significance	61754457	RCV000133068;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297718	153297718	NM_004992.3:c.317G>T	NP_004983.1:p.Arg106Leu	NC_000023.10:g.153297718C>A,NC_000023.10:g.153297718C>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp)	4204	MECP2	Pathogenic	28934907	RCV000012585;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297719	153297719	NM_004992.3:c.316C>T	NP_004983.1:p.Arg106Trp	NC_000023.10:g.153297719G>A,NC_000023.10:g.153297719G>C	OMIM Allelic Variant:300005.0008	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.316C>G (p.Arg106Gly)	4204	MECP2	Uncertain significance	28934907	RCV000133065;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297719	153297719	NM_004992.3:c.316C>G	NP_004983.1:p.Arg106Gly	NC_000023.10:g.153297719G>A,NC_000023.10:g.153297719G>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.315dupA (p.Arg106Thrfs)	4204	MECP2	Pathogenic	61754456	RCV000133064;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297720	153297720	NM_004992.3:c.315dupA	NP_004983.1:p.Arg106Thrfs	NC_000023.10:g.153297720dupT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.311G>A (p.Trp104Ter)	4204	MECP2	Pathogenic	61754455	RCV000133062;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297724	153297724	NM_004992.3:c.311G>A	NP_004983.1:p.Trp104Ter	NC_000023.10:g.153297724C>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.310T>C (p.Trp104Arg)	4204	MECP2	Uncertain significance	267608451	RCV000133061;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297725	153297725	NM_004992.3:c.310T>C	NP_004983.1:p.Trp104Arg	NC_000023.10:g.153297725A>G	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.308G>A (p.Gly103Asp)	4204	MECP2	Uncertain significance	267608450	RCV000133060;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297727	153297727	NM_004992.3:c.308G>A	NP_004983.1:p.Gly103Asp	NC_000023.10:g.153297727C>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.302C>A (p.Pro101His)	4204	MECP2	Pathogenic	61754453	RCV000133057;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297733	153297733	NM_004992.3:c.302C>A	NP_004983.1:p.Pro101His	NC_000023.10:g.153297733G>A,NC_000023.10:g.153297733G>C,NC_000023.10:g.153297733	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.302C>G (p.Pro101Arg)	4204	MECP2	Pathogenic;Uncertain significance	61754453	RCV000133058; RCV000170238;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	X	153297733	153297733	NM_004992.3:c.302C>G	NP_004983.1:p.Pro101Arg	NC_000023.10:g.153297733G>A,NC_000023.10:g.153297733G>C,NC_000023.10:g.153297733	-	C0162635 105830 Angelman syndrome; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.302C>T (p.Pro101Leu)	4204	MECP2	Pathogenic	61754453	RCV000133059;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297733	153297733	NM_004992.3:c.302C>T	NP_004983.1:p.Pro101Leu	NC_000023.10:g.153297733G>A,NC_000023.10:g.153297733G>C,NC_000023.10:g.153297733	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.301C>T (p.Pro101Ser)	4204	MECP2	Uncertain significance	61754452	RCV000133056;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297734	153297734	NM_004992.3:c.301C>T	NP_004983.1:p.Pro101Ser	NC_000023.10:g.153297734G>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.299T>G (p.Leu100Arg)	4204	MECP2	Uncertain significance	61754451	RCV000133055;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297736	153297736	NM_004992.3:c.299T>G	NP_004983.1:p.Leu100Arg	NC_000023.10:g.153297736A>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.298C>G (p.Leu100Val)	4204	MECP2	Pathogenic;Uncertain significance	28935168	RCV000012608; RCV000168679;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN169374	X	153297737	153297737	NM_004992.3:c.298C>G	NP_004983.1:p.Leu100Val	NC_000023.10:g.153297737G>C	OMIM Allelic Variant:300005.0027	CN169374 not specified; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.295_297delACC (p.Thr99del)	4204	MECP2	Pathogenic	267608449	RCV000133052;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297738	153297740	NM_004992.3:c.295_297delACC	NP_004983.1:p.Thr99del	NC_000023.10:g.153297738_153297740delGGT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.291C>A (p.Asp97Glu)	4204	MECP2	Uncertain significance	61754449	RCV000133051;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297744	153297744	NM_004992.3:c.291C>A	NP_004983.1:p.Asp97Glu	NC_000023.10:g.153297744G>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.289G>T (p.Asp97Tyr)	4204	MECP2	Uncertain significance	61754448	RCV000133048;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297746	153297746	NM_004992.3:c.289G>T	NP_004983.1:p.Asp97Tyr	NC_000023.10:g.153297746C>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.277C>T (p.Pro93Ser)	4204	MECP2	Uncertain significance	61754447	RCV000133046;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297758	153297758	NM_004992.3:c.277C>T	NP_004983.1:p.Pro93Ser	NC_000023.10:g.153297758G>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.275dupG (p.Pro93Thrfs)	4204	MECP2	Pathogenic	267608446	RCV000133044;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297760	153297760	NM_004992.3:c.275dupG	NP_004983.1:p.Pro93Thrfs	NC_000023.10:g.153297760dupC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.274G>T (p.Gly92Ter)	4204	MECP2	Pathogenic	267608445	RCV000133043;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297761	153297761	NM_004992.3:c.274G>T	NP_004983.1:p.Gly92Ter	NC_000023.10:g.153297761C>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.258_259delCA (p.Ile87Hisfs)	4204	MECP2	Pathogenic	267608444	RCV000133042;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297776	153297777	NM_004992.3:c.258_259delCA	NP_004983.1:p.Ile87Hisfs	NC_000023.10:g.153297776_153297777delTG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.257C>G (p.Ser86Cys)	4204	MECP2	Uncertain significance	61754445	RCV000133041;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297778	153297778	NM_004992.3:c.257C>G	NP_004983.1:p.Ser86Cys	NC_000023.10:g.153297778G>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.243dupC (p.Lys82Glnfs)	4204	MECP2	Pathogenic	267608443	RCV000133039;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297792	153297792	NM_004992.3:c.243dupC	NP_004983.1:p.Lys82Glnfs	NC_000023.10:g.153297792dupG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.233delC (p.Ser78Leufs)	4204	MECP2	Pathogenic	267608442	RCV000133038;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297802	153297802	NM_004992.3:c.233delC	NP_004983.1:p.Ser78Leufs	NC_000023.10:g.153297802delG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.224C>T (p.Pro75Leu)	4204	MECP2	Pathogenic;Uncertain significance	267608440	RCV000195208; RCV000133035;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN169374	X	153297811	153297811	NM_004992.3:c.224C>T	NP_004983.1:p.Pro75Leu	NC_000023.10:g.153297811G>A	-	CN169374 not specified; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.215_216insT (p.Ala73Glyfs)	4204	MECP2	Pathogenic	61754441	RCV000133033;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297819	153297820	NM_004992.3:c.215_216insT	NP_004983.1:p.Ala73Glyfs	NC_000023.10:g.153297819_153297820insA,NC_000023.10:g.153297820dupG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.215dupC (p.Ala73Glyfs)	4204	MECP2	Pathogenic	61754441	RCV000133034;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297820	153297820	NM_004992.3:c.215dupC	NP_004983.1:p.Ala73Glyfs	NC_000023.10:g.153297819_153297820insA,NC_000023.10:g.153297820dupG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.203C>G (p.Ser68Ter)	4204	MECP2	Pathogenic	267608438	RCV000133031;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297832	153297832	NM_004992.3:c.203C>G	NP_004983.1:p.Ser68Ter	NC_000023.10:g.153297832G>C	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.201delG (p.Ser68Glnfs)	4204	MECP2	Pathogenic	61754438	RCV000133030;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297834	153297834	NM_004992.3:c.201delG	NP_004983.1:p.Ser68Glnfs	NC_000023.10:g.153297834delC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.194C>G (p.Ser65Ter)	4204	MECP2	Pathogenic	61754437	RCV000193745; RCV000133029;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153297841	153297841	NM_004992.3:c.194C>G	NP_004983.1:p.Ser65Ter	NC_000023.10:g.153297841G>C	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.189_190delGA (p.Glu63Aspfs)	4204	MECP2	Pathogenic	61754436	RCV000133028;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297845	153297846	NM_004992.3:c.189_190delGA	NP_004983.1:p.Glu63Aspfs	NC_000023.10:g.153297845_153297846delTC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.167_168delCC (p.Pro56Argfs)	4204	MECP2	Pathogenic	267608434	RCV000133026; RCV000012589;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	X	153297867	153297868	NM_004992.3:c.167_168delCC	NP_004983.1:p.Pro56Argfs	NC_000023.10:g.153297867_153297868delGG	OMIM Allelic Variant:300005.0010	C0162635 105830 Angelman syndrome; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.146C>A (p.Ser49Ter)	4204	MECP2	Pathogenic	61754432	RCV000133022;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297889	153297889	NM_004992.3:c.146C>A	NP_004983.1:p.Ser49Ter	NC_000023.10:g.153297889G>C,NC_000023.10:g.153297889G>T	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.146C>G (p.Ser49Ter)	4204	MECP2	Pathogenic	61754432	RCV000192902; RCV000133023;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153297889	153297889	NM_004992.3:c.146C>G	NP_004983.1:p.Ser49Ter	NC_000023.10:g.153297889G>C,NC_000023.10:g.153297889G>T	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.140dupA (p.Pro48Alafs)	4204	MECP2	Pathogenic	61754431	RCV000133003;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297895	153297895	NM_004992.3:c.140dupA	NP_004983.1:p.Pro48Alafs	NC_000023.10:g.153297895dupT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.126dupG (p.His43Alafs)	4204	MECP2	Pathogenic	61754430	RCV000132980;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297909	153297909	NM_004992.3:c.126dupG	NP_004983.1:p.His43Alafs	NC_000023.10:g.153297909dupC	-	C0035372 312750 Rett syndrome
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
NM_004992.3(MECP2):c.117dupA (p.Glu40Argfs)	4204	MECP2	Pathogenic	267608427	RCV000132946;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297918	153297918	NM_004992.3:c.117dupA	NP_004983.1:p.Glu40Argfs	NC_000023.10:g.153297918dupT	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.143_149delAAGAAGA (p.Lys48Argfs)	4204	MECP2	Pathogenic	267608424	RCV000132849;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297922	153297928	NM_001110792.1:c.143_149delAAGAAGA	NP_001104262.1:p.Lys48Argfs	NC_000023.10:g.153297922_153297928delTCTTCTT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.108_111delAGAA (p.Glu37Argfs)	4204	MECP2	Pathogenic	267608426	RCV000132853;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297924	153297927	NM_004992.3:c.108_111delAGAA	NP_004983.1:p.Glu37Argfs	NC_000023.10:g.153297924_153297927delTTCT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.107_108delAA (p.Lys36Argfs)	4204	MECP2	Pathogenic	267608425	RCV000132848;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297927	153297928	NM_004992.3:c.107_108delAA	NP_004983.1:p.Lys36Argfs	NC_000023.10:g.153297927_153297928delTT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.100_103delGATA (p.Asp34Argfs)	4204	MECP2	Pathogenic	61754428	RCV000132828;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297932	153297935	NM_004992.3:c.100_103delGATA	NP_004983.1:p.Asp34Argfs	NC_000023.10:g.153297932_153297935delTATC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.91delG (p.Val31Terfs)	4204	MECP2	Pathogenic	61754427	RCV000133292;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297944	153297944	NM_004992.3:c.91delG	NP_004983.1:p.Val31Terfs	NC_000023.10:g.153297944delC	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.76delC (p.Leu26Serfs)	4204	MECP2	Pathogenic	61754426	RCV000133236;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297959	153297959	NM_004992.3:c.76delC	NP_004983.1:p.Leu26Serfs	NC_000023.10:g.153297959delG	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.64A>T (p.Lys22Ter)	4204	MECP2	Pathogenic	62641234	RCV000133187;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297971	153297971	NM_004992.3:c.64A>T	NP_004983.1:p.Lys22Ter	NC_000023.10:g.153297971T>A	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.83_93delAGGACCTCCAG (p.Gln28Argfs)	4204	MECP2	Pathogenic	797045694	RCV000193568;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297978	153297988	NM_001110792.1:c.83_93delAGGACCTCCAG	NP_001104262.1:p.Gln28Argfs	NC_000023.10:g.153297978_153297988delCTGGAGGTCCT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.56dupA (p.Leu21Profs)	4204	MECP2	Pathogenic	267608417	RCV000194653; RCV000133164;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153297979	153297979	NM_004992.3:c.56dupA	NP_004983.1:p.Leu21Profs	NC_000023.10:g.153297979dupT	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.55C>T (p.Gln19Ter)	4204	MECP2	Pathogenic	61754425	RCV000133160;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297980	153297980	NM_004992.3:c.55C>T	NP_004983.1:p.Gln19Ter	NC_000023.10:g.153297980G>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.50dupA (p.Asp17Glufs)	4204	MECP2	Pathogenic	267608416	RCV000133145;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297985	153297985	NM_004992.3:c.50dupA	NP_004983.1:p.Asp17Glufs	NC_000023.10:g.153297985dupT	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.71_78dupAGTCAGAA (p.Asp27Serfs)	4204	MECP2	Pathogenic	63749008	RCV000133077;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153297993	153298000	NM_001110792.1:c.71_78dupAGTCAGAA	NP_001104262.1:p.Asp27Serfs	NC_000023.10:g.153297993_153298000dupTTCTGACT	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.28G>C (p.Glu10Gln)	4204	MECP2	Uncertain significance	61754421	RCV000133049;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153298007	153298007	NM_004992.3:c.28G>C	NP_004983.1:p.Glu10Gln	NC_000023.10:g.153298007C>A,NC_000023.10:g.153298007C>G	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.28G>T (p.Glu10Ter)	4204	MECP2	Pathogenic	61754421	RCV000133050;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153298007	153298007	NM_004992.3:c.28G>T	NP_004983.1:p.Glu10Ter	NC_000023.10:g.153298007C>A,NC_000023.10:g.153298007C>G	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.27-2A>G	4204	MECP2	Pathogenic	267608412	RCV000170180; RCV000144093;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153298010	153298010	NM_004992.3:c.27-2A>G		NC_000023.10:g.153298010T>C	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.27-6C>G	4204	MECP2	Pathogenic	267608411	RCV000170187; RCV000144095;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153298014	153298014	NM_004992.3:c.27-6C>G		NC_000023.10:g.153298014G>C	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.27-8C>G	4204	MECP2	Uncertain significance	267608410	RCV000170265; RCV000144096;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153298016	153298016	NM_004992.3:c.27-8C>G		NC_000023.10:g.153298016G>C	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.27-9A>G	4204	MECP2	Uncertain significance	267608413	RCV000170266; RCV000144097;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153298017	153298017	NM_004992.3:c.27-9A>G		NC_000023.10:g.153298017T>C	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.26+2T>A	4204	MECP2	Pathogenic	267608409	RCV000170166; RCV000144092;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153357640	153357640	NM_004992.3:c.26+2T>A		NC_000023.10:g.153357640A>T	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.(?_-226)_26+?del	4204	MECP2	Pathogenic	-1	RCV000170162;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153357642	153363188	NM_004992.3:c.(?_-226)_26+?del			dbVar:nssv7487042,dbVar:nsv1197378	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.(?_1)_26+?dup	4204	MECP2	Uncertain significance	-1	RCV000170242;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153357642	153357667	NM_004992.3:c.(?_1)_26+?dup			-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.1A>T (p.Met1Leu)	4204	MECP2	Pathogenic	786205892	RCV000172861;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153357667	153357667	NM_004992.3:c.1A>T	NP_004983.1:p.Met1Leu	NC_000023.10:g.153357667T>A	-	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.-15C>T	4204	MECP2	Uncertain significance	267608324	RCV000132823;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153357682	153357682	NM_004992.3:c.-15C>T		NC_000023.10:g.153357682G>A	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.62+2_62+3delTG	4204	MECP2	Pathogenic	786205049	RCV000170295;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153363058	153363059	NM_001110792.1:c.62+2_62+3delTG		NC_000023.10:g.153363058_153363059delCA	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.62+1G>A	4204	MECP2	Uncertain significance	786205048	RCV000170294;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153363060	153363060	NM_001110792.1:c.62+1G>A		NC_000023.10:g.153363060C>T	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.(?_1)_(62_?)del (p.(?))	4204	MECP2	Pathogenic	-1	RCV000170296;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153363061	153363122	NM_001110792.1:c.(?_1)_(62_?)del	NP_001104262.1:p.(?)		dbVar:nssv7487056,dbVar:nsv1197383	C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.(?_-226)_-99+?del	4204	MECP2	Uncertain significance	-1	RCV000170263;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153363061	153363188	NM_004992.3:c.(?_-226)_-99+?del			dbVar:nssv7487057,dbVar:nsv1197384	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.59_60delGA (p.Arg20Thrfs)	4204	MECP2	Pathogenic	786205047	RCV000170293;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153363063	153363064	NM_001110792.1:c.59_60delGA	NP_001104262.1:p.Arg20Thrfs	NC_000023.10:g.153363063_153363064delTC	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.47_57delGCGAGGAGGAG (p.Gly16Glufs)	4204	MECP2	Pathogenic	786205042	RCV000170288;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153363066	153363076	NM_001110792.1:c.47_57delGCGAGGAGGAG	NP_001104262.1:p.Gly16Glufs	NC_000023.10:g.153363066_153363076delCTCCTCCTCGC	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.48_55delCGAGGAGG (p.Glu18Thrfs)	4204	MECP2	Pathogenic	786205043	RCV000170289;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153363068	153363075	NM_001110792.1:c.48_55delCGAGGAGG	NP_001104262.1:p.Glu18Thrfs	NC_000023.10:g.153363068_153363075delCCTCCTCG	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.48_55dupCGAGGAGG (p.Glu19Alafs)	4204	MECP2	Pathogenic	786205044	RCV000170290;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153363068	153363075	NM_001110792.1:c.48_55dupCGAGGAGG	NP_001104262.1:p.Glu19Alafs	NC_000023.10:g.153363068_153363075dupCCTCCTCG	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.48C>T (p.Gly16=)	4204	MECP2	Pathogenic	786205045	RCV000170291;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153363075	153363075	NM_001110792.1:c.48C>T	NP_001104262.1:p.Gly16=	NC_000023.10:g.153363075G>A	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.42_47dupAGGAGG (p.Gly16_Glu17insGlyGly)	4204	MECP2	Uncertain significance	587783744	RCV000170286;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153363076	153363081	NM_001110792.1:c.42_47dupAGGAGG	NP_001104262.1:p.Gly16_Glu17insGlyGly	NC_000023.10:g.153363076_153363078dupCCT,NC_000023.10:g.153363076_153363081dupCC	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.30_31delCG (p.Ser10Argfs)	4204	MECP2	Pathogenic	797045693	RCV000193898;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153363092	153363093	NM_001110792.1:c.30_31delCG	NP_001104262.1:p.Ser10Argfs	NC_000023.10:g.153363092_153363093delCG	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.30delCinsGA (p.Ser10Argfs)	4204	MECP2	Pathogenic	786205040	RCV000170285;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153363093	153363093	NM_001110792.1:c.30delCinsGA	NP_001104262.1:p.Ser10Argfs	NC_000023.10:g.153363093delGinsTC	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.23_27dupCGCCG (p.Ser10Argfs)	4204	MECP2	Pathogenic	786205038	RCV000170282;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153363096	153363100	NM_001110792.1:c.23_27dupCGCCG	NP_001104262.1:p.Ser10Argfs	NC_000023.10:g.153363096_153363100dupCGGCG	-	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.5C>T (p.Ala2Val)	4204	MECP2	Likely pathogenic;Pathogenic;Uncertain significance	179363901	RCV000012619;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153363118	153363118	NM_001110792.1:c.5C>T	NP_001104262.1:p.Ala2Val	NC_000023.10:g.153363118G>A	OMIM Allelic Variant:300005.0037	C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1A>T (p.Met1Leu)	4204	MECP2	Pathogenic;Uncertain significance	587783132	RCV000170280; RCV000144804;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:CN221809	X	153363122	153363122	NM_001110792.1:c.1A>T	NP_001104262.1:p.Met1Leu	NC_000023.10:g.153363122T>A,NC_000023.10:g.153363122T>C	-	CN221809 not provided; C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1A>G (p.Met1Val)	4204	MECP2	Uncertain significance	587783132	RCV000170279;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008	X	153363122	153363122	NM_001110792.1:c.1A>G	NP_001104262.1:p.Met1Val	NC_000023.10:g.153363122T>A,NC_000023.10:g.153363122T>C	-	C0035372 312750 Rett syndrome