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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Mental Retardation, X-Linked (D038901)
..Starting node ..Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
Child Nodes:
Sister Nodes:
..Abidi X-linked mental retardation syndrome (C535556)
..Adrenoleukodystrophy (D000326) 4
..Aldred syndrome (C537046)
..Allan-Herndon-Dudley syndrome (C537047)
..Arena syndrome (C537428)
..Armfield X-Linked Mental Retardation Syndrome (C564551)
..Atkin syndrome (C538195)
..ATR-X syndrome (C538258)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Brooks-Wisniewski-Brown Syndrome (C563154)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..CK SYNDROME (OMIM:300831)
..Clark-Baraitser syndrome (C536208)
..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
..Coffin-Lowry Syndrome (D038921)
..Cowchock syndrome (C536450)
..Creatine deficiency, X-linked (C535598)
..Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
..Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
..Fragile X Syndrome (D005600) 3
..Glycogen Storage Disease Type IIb (D052120)
..Lesch-Nyhan Syndrome (D007926) 1
..Lubs X-linked mental retardation syndrome (C537723)
..Lujan Fryns syndrome (C537724)
..MEHMO syndrome (C537451)
..Menkes Kinky Hair Syndrome (D007706) 1
..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
..Mental retardation X-linked syndromic 7 (C537449)
..Mental retardation X-linked, South African type (C537450)
..Mental Retardation, X-Linked 1 (C567906)
..MENTAL RETARDATION, X-LINKED 100 (OMIM:300923)
..MENTAL RETARDATION, X-LINKED 101 (OMIM:300928)
..MENTAL RETARDATION, X-LINKED 102 (OMIM:300958)
..MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
..MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
..MENTAL RETARDATION, X-LINKED 105 (OMIM:300984)
..MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
..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 19 (OMIM:300844)
..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 41 (OMIM:300849)
..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 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 90 (OMIM:300850)
..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 98 (OMIM:300912)
..MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
..MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
..Mental Retardation, X-Linked Nonsyndromic (C564490)
..Mental Retardation, X-Linked, Syndromic 10 (C564560) L: 00526;
..Mental Retardation, X-Linked, Syndromic 13 (C566875)
..Mental Retardation, X-Linked, Syndromic 14 (C567063)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 (OMIM:300886)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 (OMIM:300967)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Mental Retardation, X-Linked, Syndromic 9 (C567474)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
..Mental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
..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 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 C:3 L: 00442;
..RAYNAUD-CLAES SYNDROME (OMIM:300114)
..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)
..TONNE-KALSCHEUER SYNDROME (OMIM:300978)
..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,ClinVar, CTD

Term ID:

4125

Name:

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations

Definition:

Alternative IDs:

OMIM:300673

ParentIDs:

MESH:D038901

TreeNumbers:

C10.597.606.360.455/C566878 |C16.320.322.500/C566878 |C16.320.400.525/C566878

Synonyms:

Mecp2-Related Severe Neonatal Encephalopathy

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C566878
MeSH: C566878
OMIM: 300673;
MSeqDR :
Genes: MECP2;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0002104	Apnea
4	HP:0007110	Central hypoventilation
5	HP:0002353	EEG abnormality
6	HP:0001298	Encephalopathy NAMDC: Encephalopathy (At least one neurological manifestation marked with an *)
7	HP:0001508	Failure to thrive
8	HP:0008872	Feeding difficulties in infancy
9	HP:0002020	Gastroesophageal reflux
10	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
11	HP:0001263	Global developmental delay NAMDC: Mental retardation
12	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
13	HP:0006887	Intellectual disability, progressive
14	HP:0010864	Intellectual disability, severe
15	HP:0008936	Muscular hypotonia of the trunk
16	HP:0001336	Myoclonus NAMDC: Myoclonus
17	HP:0002126	Polymicrogyria
18	HP:0000253	Progressive microcephaly
19	HP:0002093	Respiratory insufficiency
20	HP:0002063	Rigidity
21	HP:0001250	Seizures NAMDC: Seizures

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000023.10:g.(?_152954010)_(153363142_?)dup	4204	MECP2	Pathogenic	-1	RCV001033929;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	152954010	153363142	-1	-
NC_000023.10:g.(?_153128098)_(153599633_?)dup	4204	MECP2	Pathogenic	-1	RCV000645140;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153128098	153599633		-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NC_000023.10:g.(?_153128098)_(153363142_?)dup	4204	MECP2	Pathogenic	-1	RCV000801357;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153128098	153363142		-
NC_000023.10:g.(?_153128118)_(153416424_?)dup	4204	MECP2	Pathogenic	-1	RCV000707765;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153128118	153416424		-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NC_000023.10:g.(?_153128823)_(153416424_?)dup	4204	MECP2	Pathogenic	-1	RCV000708432;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153128823	153416424		-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NC_000023.10:g.(?_153137587)_(153363142_?)dup	4204	MECP2	Pathogenic	-1	RCV000794134;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153137587	153363142		-
NC_000023.10:g.(?_153184286)_(153409869_?)dup	4204	MECP2	Pathogenic	-1	RCV000708531;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153184286	153409869		-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NC_000023.10:g.(?_153195397)_(153642547_?)dup	4204	MECP2	Pathogenic	-1	RCV003113631;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153195397	153642547		-
NC_000023.10:g.(?_153279389)_(153296228_?)del	4204	MECP2	Pathogenic	-1	RCV003113633;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153279389	153296228		-
NC_000023.10:g.(?_153285725)_(153296182_?)del	4204	MECP2	Pathogenic	-1	RCV003113634;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153285725	153296182		-
NC_000023.10:g.(?_153288018)_(153296120_?)del	4204	MECP2	Pathogenic	-1	RCV001970181;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153288018	153296120	-1	-
NC_000023.10:g.(?_153292262)_(153297628_?)del	4204	MECP2	Pathogenic	-1	RCV003113630;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153292262	153297628		-
NM_001110792.2(MECP2):c.1194_*3444del (p.Pro399fs)	4204	MECP2	Pathogenic	-1	RCV000467463;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153292374	153296121	NC_000023.10:g.153292374_153296121del	ClinGen:CA16616626	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NC_000023.10:g.(?_153292375)_(153296122_?)del	4204	MECP2	Pathogenic	-1	RCV001389410;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153292375	153296122	-1	-
NC_000023.10:g.(?_153292923)_(153296117_?)del	4204	MECP2	Pathogenic	-1	RCV003113635;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153292923	153296117		-
NC_000023.10:g.(?_153294907)_(153296120_?)del	4204	MECP2	Pathogenic	-1	RCV002002295;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153294907	153296120	-1	-
NM_001110792.2(MECP2):c.1275_*863del (p.Cys425_Ter499delinsXaa)	4204	MECP2	Pathogenic	-1	RCV001038963;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153294955	153296040	X:g.153294955_153295053del	-
NC_000023.10:g.(?_153295063)_(153296130_?)del	4204	MECP2	Pathogenic	-1	RCV001949660;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295063	153296130	-1	-
NC_000023.10:g.(?_153295250)_(153296129_?)del	4204	MECP2	Pathogenic	-1	RCV003113636;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295250	153296129		-
NC_000023.10:g.(?_153295412)_(153306710_?)del	4204	MECP2	Pathogenic	-1	RCV003113638;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295412	153306710		-
NC_000023.10:g.(?_153295526)_(153296087_?)del	4204	MECP2	Pathogenic	-1	RCV002037930;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295526	153296087	-1	-
NC_000023.10:g.(?_153295580)_(153296752_?)del	4204	MECP2	Pathogenic	-1	RCV001963211;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295580	153296752	-1	-
NC_000023.10:g.(?_153295726)_(153786885_?)dup	4204	MECP2	Pathogenic	-1	RCV000645139;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295726	153786885		-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NC_000023.10:g.(?_153295726)_(153599633_?)dup	4204	MECP2	Pathogenic	-1	RCV000708412;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295726	153599633		-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NC_000023.10:g.(?_153295726)_(153298028_?)del	4204	MECP2	Pathogenic	-1	RCV000708536;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295726	153298028		-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NC_000023.10:g.(?_153295726)_(153596478_?)dup	4204	MECP2	Pathogenic	-1	RCV000794826;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295726	153596478		-
NC_000023.10:g.(?_153295726)_(153298028_?)dup	4204	MECP2	Uncertain significance	-1	RCV001032264;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295726	153298028	-1	-
NC_000023.10:g.(?_153295726)_(153363142_?)dup	4204	MECP2	Pathogenic	-1	RCV001033709;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295726	153363142	-1	-
NM_001110792.2(MECP2):c.1267_*76del (p.Val424fs)	4204	MECP2	Pathogenic	-1	RCV002870897;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295742	153296048	NC_000023.10:g.153295744_153296050del	-
NC_000023.10:g.(?_153295798)_(153298028_?)del	4204	MECP2	Pathogenic	-1	RCV000546324;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295798	153298028		-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp)	4204	MECP2	Likely pathogenic	267608642	RCV000133021\|RCV001379701\|RCV002472325;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153295818	153295818	X:g.153295818T>C	ClinGen:CA170257	CN169374 not specified;
NC_000023.10:g.(?_153295818)_(153298028_?)dup	4204	MECP2	Uncertain significance	-1	RCV003113632;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295818	153298028		-
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser)	4204	MECP2	Likely pathogenic	267608399	RCV001035415\|RCV002274117;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260, Orphanet:1762	X	153295819	153295819	X:g.153295819C>G	-
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs)	4204	MECP2	Pathogenic	267608640	RCV000168709\|RCV001042819;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295822	153295825	NC_000023.10:g.153295824_153295827del	ClinGen:CA273848
NM_001110792.2(MECP2):c.1489G>C (p.Val497Leu)	4204	MECP2	Uncertain significance	782487090	RCV001299959;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295826	153295826	153295826	-
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr)	4204	MECP2	Benign/Likely benign	267608370	RCV000146354\|RCV000863049\|RCV002055852\|RCV003380472;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153295828	153295828	NC_000023.10:g.153295828C>G	ClinGen:CA172565	CN169374 not specified;
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys)	4204	MECP2	Uncertain significance	587777421	RCV000352165\|RCV000623358\|RCV000816982\|RCV001251381;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN169374	X	153295832	153295832	X:g.153295832C>T	ClinGen:CA10603533	C0950123 Inborn genetic diseases;
NM_001110792.2(MECP2):c.1482C>T (p.Thr494=)	4204	MECP2	Likely benign	76895094	RCV000133009\|RCV001447815\|RCV003436954\|RCV003380471;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153295833	153295833	X:g.153295833G>A	ClinGen:CA170254	CN169374 not specified;
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)	4204	MECP2	Likely benign	193922678	RCV000030164\|RCV000194612\|RCV000724867\|RCV001057144;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295838	153295838	X:g.153295838C>T	ClinGen:CA208886	CN169374 not specified;
NM_001110792.2(MECP2):c.1476C>T (p.Pro492=)	4204	MECP2	Likely benign	782677867	RCV001489990;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295839	153295839	153295839	-
NM_001110792.2(MECP2):c.1474C>T (p.Pro492Ser)	4204	MECP2	Benign	267608636	RCV000133007\|RCV002055851;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295841	153295841	X:g.153295841G>A	ClinGen:CA170251,UniProtKB:P51608#VAR_018226	CN169374 not specified;
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=)	4204	MECP2	Benign/Likely benign	587781033	RCV000153484\|RCV000869611\|RCV001719898\|RCV002316389;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	153295842	153295842	X:g.153295842C>T	ClinGen:CA180180	CN169374 not specified;
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)	4204	MECP2	Likely benign	145790362	RCV000170088\|RCV000766080\|RCV000767162\|RCV001048888\|RCV002260620\|RCV003162601;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370; MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077; MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778; MONDO:MONDO:0010342,MedGen:C1845336,	X	153295846	153295846	NC_000023.10:g.153295846C>T	ClinGen:CA199452	CN169374 not specified;
NM_001110792.2(MECP2):c.1468C>A (p.Arg490=)	4204	MECP2	Likely benign	1214690328	RCV001399308;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295847	153295847	X:g.153295847G>T	-
NM_001110792.2(MECP2):c.1466G>C (p.Ser489Thr)	4204	MECP2	Uncertain significance	267608328	RCV000133005\|RCV001206116\|RCV001800448;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153295849	153295849	X:g.153295849C>G	ClinGen:CA170245	CN169374 not specified;
NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp)	4204	MECP2	Benign	75498268	RCV000497392\|RCV001455468\|RCV003448315;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153295860	153295860	X:g.153295860C>G	ClinGen:CA10558429	CN169374 not specified;
NM_001110792.2(MECP2):c.1452G>C (p.Glu484Asp)	4204	MECP2	Benign	2148658484	RCV002195782;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295863	153295863	153295863	-
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs)	4204	MECP2	Likely pathogenic	2065902096	RCV001251127\|RCV001879813;	N	MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260, Orphanet:1762\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295874	153295875	X:g.153295874_153295875insC	-
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=)	4204	MECP2	Likely benign	267608633	RCV000169925\|RCV000724588\|RCV001089287\|RCV002260614;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153295875	153295875	X:g.153295875C>T	ClinGen:CA199303	CN169374 not specified;
NM_001110792.2(MECP2):c.1439G>C (p.Arg480Thr)	4204	MECP2	Benign	2065902151	RCV001512183;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295876	153295876	153295876	-
NC_000023.10:g.(?_153295885)_(153296418_?)del	4204	MECP2	Pathogenic	-1	RCV001974998;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295885	153296418	-1	-
NM_001110792.2(MECP2):c.1427C>T (p.Ser476Phe)	4204	MECP2	Likely benign	2065902468	RCV001034056;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295888	153295888	X:g.153295888G>A	-
NM_001110792.2(MECP2):c.1419T>C (p.Ile473=)	4204	MECP2	Likely benign	2065902668	RCV002197427;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295896	153295896	153295896	-
NM_001110792.2(MECP2):c.1414G>T (p.Asp472Tyr)	4204	MECP2	Uncertain significance	782747061	RCV001306074;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295901	153295901	153295901	-
NM_001110792.2(MECP2):c.1410C>T (p.Arg470=)	4204	MECP2	Likely benign	781825661	RCV000393143\|RCV001517504\|RCV003235181;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153295905	153295905	X:g.153295905G>A	ClinGen:CA10558434	CN169374 not specified;
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)	4204	MECP2	Benign/Likely benign	185957513	RCV000081200\|RCV000532506\|RCV001705752\|RCV003227636\|RCV003380415;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778; MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260, Orphanet:1762; MONDO:MONDO:0010397,	X	153295906	153295906	X:g.153295906C>T	ClinGen:CA148310	CN169374 not specified;
NM_001110792.2(MECP2):c.1393C>A (p.Arg465=)	4204	MECP2	Likely benign	61753979	RCV001442295;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295922	153295922	153295922	-
NM_001110792.2(MECP2):c.1392C>A (p.His464Gln)	4204	MECP2	Uncertain significance	-1	RCV002851411;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295923	153295923	NC_000023.10:g.153295923G>T	-
NM_001110792.2(MECP2):c.1386C>G (p.Tyr462Ter)	4204	MECP2	Likely pathogenic	1557134999	RCV000585834;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295929	153295929	X:g.153295929G>C	ClinGen:CA415164262	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1384dup (p.Tyr462fs)	4204	MECP2	Pathogenic	1557135004	RCV000645118;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295930	153295931	NC_000023.10:g.153295931dup	ClinGen:CA658799888	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1384T>C (p.Tyr462His)	4204	MECP2	Uncertain significance	2065903736	RCV001347731;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295931	153295931	153295931	-
NM_001110792.2(MECP2):c.1377A>C (p.Ala459=)	4204	MECP2	Likely benign	-1	RCV002889205;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295938	153295938		-
NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val)	4204	MECP2	Conflicting interpretations of pathogenicity	61753978	RCV000132994\|RCV002514764;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295939	153295939	NC_000023.10:g.153295939G>A	ClinGen:CA270277	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr)	4204	MECP2	Benign	267608626	RCV000132993\|RCV000678237\|RCV001088957\|RCV001800447\|RCV002381448;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MeSH:D030342,MedGen:C0950123	X	153295940	153295940	X:g.153295940C>T	ClinGen:CA170236	CN517202 not provided;
NM_001110792.2(MECP2):c.1374C>T (p.Ala458=)	4204	MECP2	Likely benign	782496297	RCV000611825\|RCV002064130;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295941	153295941	X:g.153295941G>A	ClinGen:CA10558437	CN169374 not specified;
NM_001110792.2(MECP2):c.1373C>T (p.Ala458Val)	4204	MECP2	Likely benign	782608788	RCV001306521;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295942	153295942	153295942	-
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=)	4204	MECP2	Benign/Likely benign	3027927	RCV000081199\|RCV000712281\|RCV000719389\|RCV001085261\|RCV003380414;	N	MedGen:CN169374\|MedGen:C3661900\|MedGen:C2711754\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153295944	153295944	X:g.153295944C>T	ClinGen:CA148307	CN169374 not specified;
NM_001110792.2(MECP2):c.1371G>C (p.Thr457=)	4204	MECP2	Likely benign	3027927	RCV001469102;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295944	153295944	153295944	-
NM_001110792.2(MECP2):c.1362_1370del (p.454TAA[1])	4204	MECP2	Likely benign	267608404	RCV000132988\|RCV001430809;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295945	153295953	X:g.153295945_153295953del	ClinGen:CA232936	CN517202 not provided;
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)	4204	MECP2	Benign/Likely benign	61753975	RCV000081198\|RCV000224116\|RCV000659843\|RCV001082471;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295949	153295949	X:g.153295949C>T	ClinGen:CA148304,UniProtKB:P51608#VAR_018224	CN517202 not provided;
NM_001110792.2(MECP2):c.1365C>T (p.Ala455=)	4204	MECP2	Benign	782706777	RCV000868627;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295950	153295950	X:g.153295950G>A	-
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val)	4204	MECP2	Conflicting interpretations of pathogenicity	375101073	RCV000194442\|RCV000538875\|RCV002381654\|RCV003129800;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	X	153295951	153295951	NC_000023.10:g.153295951G>A	ClinGen:CA208615	CN169374 not specified;
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)	4204	MECP2	Benign	193922677	RCV000170261\|RCV000415982\|RCV000438624\|RCV001079728\|RCV001251833\|RCV002381273\|RCV002472321;	N	MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontolog	X	153295952	153295952	X:g.153295952C>T	ClinGen:CA199489	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.1362C>T (p.Thr454=)	4204	MECP2	Benign	61751363	RCV000146353\|RCV000757449\|RCV001078556\|RCV003380468;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153295953	153295953	NC_000023.10:g.153295953G>A	ClinGen:CA172562	CN169374 not specified;
NM_001110792.2(MECP2):c.1362C>G (p.Thr454=)	4204	MECP2	Likely benign	61751363	RCV002197955;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295953	153295953	153295953	-
NM_001110792.2(MECP2):c.1359C>T (p.Ala453=)	4204	MECP2	Benign	781964746	RCV001516065;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295956	153295956	153295956	-
NM_001110792.2(MECP2):c.1151_1357del (p.His384_Ala453delinsPro)	4204	MECP2	Uncertain significance	1557135080	RCV000645114;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295958	153296164	X:g.153295958_153296056del	ClinGen:CA658799889	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1354G>C (p.Val452Leu)	4204	MECP2	Uncertain significance	1557135085	RCV001918552;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295961	153295961	153295961	-
NM_001110792.2(MECP2):c.1353G>A (p.Ala451=)	4204	MECP2	Benign/Likely benign	146632223	RCV000938249\|RCV001704712;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153295962	153295962	X:g.153295962C>T	ClinGen:CA10558441	CN169374 not specified;
NM_001110792.2(MECP2):c.1352_1353del (p.Ala451fs)	4204	MECP2	Pathogenic	1557135091	RCV000645110;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295962	153295963	X:g.153295962_153295963del	ClinGen:CA658799890	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser)	4204	MECP2	Benign	61753973	RCV000081197\|RCV001520870\|RCV002472322;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153295964	153295964	X:g.153295964C>A	ClinGen:CA222801	CN169374 not specified;
NM_001110792.2(MECP2):c.1350C>T (p.Pro450=)	4204	MECP2	Likely benign	782798565	RCV001500916;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295965	153295965	153295965	-
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs)	4204	MECP2	Pathogenic	61753972	RCV000132985\|RCV000690876;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295970	153295971	X:g.153295970_153295971del	ClinGen:CA270275	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys)	4204	MECP2	Uncertain significance	1569548273	RCV001862087\|RCV002318289\|RCV003117522;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MedGen:CN169374	X	153295970	153295970	NC_000023.10:g.153295970G>T	-
NM_001110792.2(MECP2):c.1341G>A (p.Lys447=)	4204	MECP2	Likely benign	2148658929	RCV002156770;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295974	153295974	153295974	-
NM_001110792.2(MECP2):c.1331A>G (p.Glu444Gly)	4204	MECP2	Uncertain significance	-1	RCV003015797;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295984	153295984	NC_000023.10:g.153295984T>C	-
NM_001110792.2(MECP2):c.1328dup (p.Glu444fs)	4204	MECP2	Pathogenic	2148658967	RCV001956409;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295986	153295987	153295986	-
NM_001110792.2(MECP2):c.1327A>C (p.Lys443Gln)	4204	MECP2	Benign	781829911	RCV001517831;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295988	153295988	X:g.153295988T>G	-
NM_001110792.2(MECP2):c.1326C>T (p.Pro442=)	4204	MECP2	Likely benign	1603307482	RCV000942962;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295989	153295989	X:g.153295989G>A	-
NM_001110792.2(MECP2):c.1325C>T (p.Pro442Leu)	4204	MECP2	Benign	930563451	RCV001520075;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295990	153295990	X:g.153295990G>A	ClinGen:CA337262115	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1323C>T (p.Cys441=)	4204	MECP2	Likely benign	782638563	RCV002113151;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295992	153295992	153295992	-
NM_001110792.2(MECP2):c.1320C>T (p.Gly440=)	4204	MECP2	Benign/Likely benign	267608621	RCV000132983\|RCV000866344\|RCV001514986;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295995	153295995	X:g.153295995G>A	ClinGen:CA170224	CN169374 not specified;
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser)	4204	MECP2	Benign	61753971	RCV000012604\|RCV000132982\|RCV001719695\|RCV002260597\|RCV002371770;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MeSH:D030342,MedGen:C0950123	X	153295997	153295997	X:g.153295997C>T	ClinGen:CA121707,UniProtKB:P51608#VAR_017463,OMIM:300005.0023	CN169374 not specified;
NM_001110792.2(MECP2):c.1316_1318del (p.Asp439del)	4204	MECP2	Uncertain significance	2065906988	RCV001232303;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295997	153295999	X:g.153295997_153295999del	-
NM_001110792.2(MECP2):c.1317C>T (p.Asp439=)	4204	MECP2	Benign	374900442	RCV002116087;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153295998	153295998	153295998	-
NM_001110792.2(MECP2):c.1315G>A (p.Asp439Asn)	4204	MECP2	Uncertain significance	782217947	RCV000695420;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296000	153296000	NC_000023.10:g.153296000C>T	-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1314_1315insCGTCACTA (p.Asp439delinsArgHisTer)	4204	MECP2	Pathogenic	2065907185	RCV001253725;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296000	153296001	X:g.153296000_153296001insTAGTGACG	-
NM_001110792.2(MECP2):c.1314C>T (p.Ser438=)	4204	MECP2	Likely benign	267608619	RCV000132981\|RCV002514763\|RCV003380466;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296001	153296001	NC_000023.10:g.153296001G>A	ClinGen:CA170221	CN169374 not specified;
NM_001110792.2(MECP2):c.1222_1313del (p.Ser408fs)	4204	MECP2	Pathogenic	-1	RCV002913408;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296002	153296093	NC_000023.10:g.153296002_153296093del	-
NM_001110792.2(MECP2):c.1311G>A (p.Glu437=)	4204	MECP2	Likely benign	2148659080	RCV001403036;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296004	153296004	153296004	-
NM_001110792.2(MECP2):c.1303T>C (p.Ser435Pro)	4204	MECP2	Benign/Likely benign	782243032	RCV001519493\|RCV003438858;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296012	153296012	153296012	-
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=)	4204	MECP2	Benign/Likely benign	61753970	RCV000132979\|RCV001513294\|RCV002492517\|RCV003380465;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260, Orphanet:1762; MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778; MONDO:MONDO:0010397,MedGen:C1968556,	X	153296013	153296013	X:g.153296013G>A	ClinGen:CA170218	CN169374 not specified;
NM_001110792.2(MECP2):c.1302C>G (p.Gly434=)	4204	MECP2	Likely benign	61753970	RCV002107879;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296013	153296013	153296013	-
NM_001110792.2(MECP2):c.1301G>A (p.Gly434Asp)	4204	MECP2	Likely benign	1557135148	RCV001045877;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296014	153296014	X:g.153296014C>T	-
NM_001110792.2(MECP2):c.1075_1300delinsCCAAAGGCCCCCGTGCCACT (p.Lys359fs)	4204	MECP2	Pathogenic	-1	RCV002942926;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296015	153296240	NC_000023.10:g.153296015_153296240delinsAGTGGCACGGGGGCCTTTGG	-
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=)	4204	MECP2	Benign/Likely benign	199540575	RCV002501274\|RCV002536778;	N	MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077; MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496; MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370; MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260, Orphanet:1762; MONDO:MONDO:00107	X	153296022	153296022	X:g.153296022G>A	-
NM_001110792.2(MECP2):c.1292C>T (p.Pro431Leu)	4204	MECP2	Conflicting interpretations of pathogenicity	376324027	RCV002133800\|RCV002252770;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|	X	153296023	153296023	153296023	-
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)	4204	MECP2	Benign	140258520	RCV000168707\|RCV000456515\|RCV000766081\|RCV001088911\|RCV002260619\|RCV002415628;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370; MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778; MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260, Orphanet:1762; MONDO:MONDO:0010235,	X	153296024	153296024	NC_000023.10:g.153296024G>A	ClinGen:CA198850	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.1289T>C (p.Met430Thr)	4204	MECP2	Uncertain significance	1210814372	RCV001308315\|RCV003151850;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153296026	153296026	153296026	-
NM_001110792.2(MECP2):c.1287G>A (p.Lys429=)	4204	MECP2	Likely benign	2148659210	RCV001400349;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296028	153296028	153296028	-
NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met)	4204	MECP2	Uncertain significance	61753968	RCV000132977\|RCV001588991\|RCV002472324;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296029	153296029	NC_000023.10:g.153296029T>A	ClinGen:CA280048	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1279GAG[1] (p.Glu428del)	4204	MECP2	Uncertain significance	781918838	RCV001980972;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296031	153296033	153296030	-
NM_001110792.2(MECP2):c.1195_1279del (p.Pro399fs)	4204	MECP2	Pathogenic	2065908727	RCV001232302;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296036	153296120	X:g.153296036_153296120del	-
NM_001110792.2(MECP2):c.1277_1278del (p.Lys426fs)	4204	MECP2	Pathogenic	2148659257	RCV001949468;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296037	153296038	153296036	-
NM_001110792.2(MECP2):c.63-1928_1277del	4204	MECP2	Pathogenic	-1	RCV001210386;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296038	153299936	X:g.153296038_153296136del	-
NM_001110792.2(MECP2):c.1277A>G (p.Lys426Arg)	4204	MECP2	Benign	2148659263	RCV001882010;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296038	153296038	153296038	-
NM_001110792.2(MECP2):c.1275C>T (p.Cys425=)	4204	MECP2	Likely benign	61753967	RCV000132976\|RCV000980868\|RCV001675631;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153296040	153296040	X:g.153296040G>A	ClinGen:CA170215	CN169374 not specified;
NM_001110792.2(MECP2):c.1196_1275del (p.Pro399fs)	4204	MECP2	Pathogenic	-1	RCV003018989;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296040	153296119	NC_000023.10:g.153296044_153296123del	-
NM_001110792.2(MECP2):c.1271T>G (p.Val424Gly)	4204	MECP2	Conflicting interpretations of pathogenicity	782598922	RCV001345018\|RCV001587364;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153296044	153296044	153296044	-
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile)	4204	MECP2	Benign/Likely benign	61753966	RCV000132973\|RCV000867045\|RCV001701614\|RCV002371978\|RCV003380464;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296045	153296045	X:g.153296045C>T	ClinGen:CA170212,UniProtKB:P51608#VAR_018222	CN169374 not specified;
NM_001110792.2(MECP2):c.1269_1270delinsTT (p.Val424Phe)	4204	MECP2	Benign	2065909328	RCV001034142;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296045	153296046	NC_000023.10:g.153296045_153296046delinsAA	-
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=)	4204	MECP2	Benign	3027928	RCV000081196\|RCV000464380\|RCV000587510\|RCV000715138\|RCV003380413;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MedGen:C2711754\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296046	153296046	X:g.153296046G>A	ClinGen:CA148301	CN517202 not provided;
NM_001110792.2(MECP2):c.1261AGC[2] (p.Ser423del)	4204	MECP2	Conflicting interpretations of pathogenicity	2065909462	RCV001203890\|RCV001586043;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153296046	153296048	X:g.153296046_153296048del	-
NM_001110792.2(MECP2):c.1268dup (p.Ser423fs)	4204	MECP2	Pathogenic	2148659330	RCV001972468;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296046	153296047	153296046	-
NM_001110792.2(MECP2):c.1190_1269del (p.Pro397fs)	4204	MECP2	Pathogenic	-1	RCV002819274;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296046	153296125	NC_000023.10:g.153296047_153296126del	-
NM_001110792.2(MECP2):c.907_1268delinsAC (p.Ser303_Ser423delinsThr)	4204	MECP2	Uncertain significance	2065909561	RCV001222554;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296047	153296408	X:g.153296048_153296146del	-
NM_001110792.2(MECP2):c.1268G>C (p.Ser423Thr)	4204	MECP2	Uncertain significance	2065909517	RCV001203428;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296047	153296047	X:g.153296047C>G	-
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn)	4204	MECP2	Likely benign	2065910235	RCV001172216\|RCV001873590\|RCV002365824\|RCV003448371;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296060	153296060	X:g.153296060C>T	-
NM_001110792.2(MECP2):c.1254G>A (p.Gln418=)	4204	MECP2	Likely benign	-1	RCV003002932;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296061	153296061		-
NM_001110792.2(MECP2):c.1253A>C (p.Gln418Pro)	4204	MECP2	Uncertain significance	782638259	RCV001236100;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296062	153296062	X:g.153296062T>G	-
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter)	4204	MECP2	Pathogenic	61753965	RCV000132967\|RCV000169933\|RCV000170106\|RCV001057731;	N	MedGen:CN517202\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296063	153296063	X:g.153296063G>A	ClinGen:CA199472	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.1120_1252del (p.Pro374fs)	4204	MECP2	Pathogenic	2148659417	RCV001913795;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296063	153296195	153296062	-
NM_001110792.2(MECP2):c.1251C>T (p.Pro417=)	4204	MECP2	Benign/Likely benign	61753964	RCV000132966\|RCV000477111\|RCV001704059\|RCV002354325\|RCV003380463;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296064	153296064	X:g.153296064G>A	ClinGen:CA170209	CN169374 not specified;
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del)	4204	MECP2	Uncertain significance	782746707	RCV000445565\|RCV000766764\|RCV001339351\|RCV001267433;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296064	153296099	NC_000023.10:g.153296073_153296108del	ClinGen:CA10558461	CN169374 not specified;
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)	4204	MECP2	Benign	61753016	RCV000132964\|RCV000169944\|RCV000225647\|RCV001004759;	N	MedGen:C3661900\|MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296065	153296065	X:g.153296065G>A	ClinGen:CA199322	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.1249C>T (p.Pro417Ser)	4204	MECP2	Likely benign	781786825	RCV001462098;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296066	153296066	153296066	-
NM_004992.3(MECP2):c.27-8916_1212del	4204	MECP2	Likely pathogenic	-1	RCV000690615;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296067	153306924		-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.982_1248del (p.Val328_Glu416del)	4204	MECP2	Uncertain significance	1603307604	RCV000792264;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296067	153296333	X:g.153296067_153296165del	-
NM_001110792.2(MECP2):c.1078_1248delinsT (p.Glu360fs)	4204	MECP2	Pathogenic	-1	RCV003055826;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296067	153296237	NC_000023.10:g.153296067_153296237delinsA	-
NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs)	4204	MECP2	Pathogenic	-1	RCV002247744;	N	MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496; MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370; MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077; MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778; MOND	X	153296068	153297734	153296067	-
NM_001110792.2(MECP2):c.1064_1246del (p.Gly355_Pro415del)	4204	MECP2	Uncertain significance	1603307609	RCV000794038;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296069	153296251	X:g.153296069_153296167del	-
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer)	4204	MECP2	Uncertain significance	781843758	RCV000493742\|RCV001231788\|RCV001197201\|RCV002226465;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296070	153296071	X:g.153296070_153296071insG	ClinGen:CA10558465	CN517202 not provided;
NM_001110792.2(MECP2):c.1244C>T (p.Pro415Leu)	4204	MECP2	Likely benign	587783107	RCV000144776\|RCV001340957\|RCV002345451\|RCV003235062;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296071	153296071	NC_000023.10:g.153296071G>A	ClinGen:CA294670	CN169374 not specified;
NM_001110792.2(MECP2):c.1244C>A (p.Pro415His)	4204	MECP2	Uncertain significance	587783107	RCV001056054;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296071	153296071	X:g.153296071G>T	-
NM_001110792.2(MECP2):c.1242_1244del (p.Pro415del)	4204	MECP2	Uncertain significance	-1	RCV002843564;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296071	153296073	NC_000023.10:g.153296074_153296076del	-
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)	4204	MECP2	Pathogenic	61752992	RCV000012595\|RCV000132932\|RCV000169932\|RCV000169931\|RCV000170103\|RCV000170102\|RCV000415090\|RCV000491803\|RCV000624849\|RCV000768267\|RCV001002125\|RCV001420272\|RCV003323414;	N	MedGen:C2677682\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010235,MedGen:C079622	X	153296072	153296115	NC_000023.10:g.153296078_153296121del	ClinGen:CA198846,LOVD 3:MECP2_000185,OMIM:300005.0014
NM_001110792.2(MECP2):c.1243C>G (p.Pro415Ala)	4204	MECP2	Conflicting interpretations of pathogenicity	782495086	RCV000487852\|RCV001204345;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296072	153296072	X:g.153296072G>C	ClinGen:CA10558467	CN517202 not provided;
NM_001110792.2(MECP2):c.1243C>T (p.Pro415Ser)	4204	MECP2	Conflicting interpretations of pathogenicity	-1	RCV003054128\|RCV003319534;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153296072	153296072	NC_000023.10:g.153296072G>A	-
NM_001110792.2(MECP2):c.1242C>T (p.Pro414=)	4204	MECP2	Benign/Likely benign	63586860	RCV000132963\|RCV000456666\|RCV001719906;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296073	153296073	X:g.153296073G>A	ClinGen:CA170206	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)	4204	MECP2	Benign	61753014	RCV000169924\|RCV000526298\|RCV001088771\|RCV002260613\|RCV002316388\|RCV002483250;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260,Orpha	X	153296074	153296074	X:g.153296074G>A	ClinGen:CA199300,UniProtKB:P51608#VAR_018221	CN169374 not specified;
NM_001110792.2(MECP2):c.1241C>A (p.Pro414His)	4204	MECP2	Likely benign	61753014	RCV001224611;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296074	153296074	X:g.153296074G>T	-
NM_001110792.2(MECP2):c.1240C>A (p.Pro414Thr)	4204	MECP2	Benign/Likely benign	150146088	RCV000425226\|RCV000811839;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296075	153296075	X:g.153296075G>T	ClinGen:CA10558469	CN169374 not specified;
NM_001110792.2(MECP2):c.1240C>T (p.Pro414Ser)	4204	MECP2	Benign	150146088	RCV002193977;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296075	153296075	153296075	-
NM_001110792.2(MECP2):c.1239C>T (p.Ser413=)	4204	MECP2	Likely benign	782230851	RCV001402295\|RCV001720136;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296076	153296076	X:g.153296076G>A	ClinGen:CA10558470	CN169374 not specified;
NM_001110792.2(MECP2):c.1238G>A (p.Ser413Asn)	4204	MECP2	Conflicting interpretations of pathogenicity	62707562	RCV000132961\|RCV002055850\|RCV003380461;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296077	153296077	X:g.153296077C>T	ClinGen:CA170203	CN169374 not specified;
NM_001110792.2(MECP2):c.1168_1238del (p.Ala390fs)	4204	MECP2	Pathogenic	1557135295	RCV000170142\|RCV001850414;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296077	153296147	X:g.153296077_153296147del	ClinGen:CA274565,dbVar:nssv7487098	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.1199_1237del (p.Pro400_Ser413delinsArg)	4204	MECP2	Uncertain significance	267608602	RCV000132929;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296078	153296116	X:g.153296078_153296116del	ClinGen:CA280045	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs)	4204	MECP2	Pathogenic	1557135314	RCV000144423\|RCV000170135\|RCV001383624;	N	MedGen:CN517202\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296078	153296163	NC_000023.10:g.153296084_153296169del	ClinGen:CA233198	CN517202 not provided;
NM_001110792.2(MECP2):c.1201_1237del (p.Pro401fs)	4204	MECP2	Pathogenic	2148659670	RCV001878148;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296078	153296114	153296077	-
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)	4204	MECP2	Pathogenic/Likely pathogenic	267608329	RCV000132886\|RCV000479970\|RCV001387825\|RCV003333027;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260, Orphanet:1762	X	153296079	153296124	X:g.153296079_153296124del	ClinGen:CA270218,ClinVar:560187	CN517202 not provided;
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)	4204	MECP2	Pathogenic	63749748	RCV000132897\|RCV000170100\|RCV000473761\|RCV000756326\|RCV003390827;	N	MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830, Orphanet:72\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|	X	153296079	153296122	NC_000023.10:g.153296081_153296124del	ClinGen:CA274542	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs)	4204	MECP2	Pathogenic	267608343	RCV000132937\|RCV001849956;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296079	153296112	X:g.153296079_153296112del	ClinGen:CA270258	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.1236C>G (p.Thr412=)	4204	MECP2	Likely benign	2148659708	RCV001403628;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296079	153296079	153296079	-
NM_001110792.2(MECP2):c.1235C>T (p.Thr412Ile)	4204	MECP2	Likely benign	782420809	RCV001575045\|RCV002568481;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296080	153296080	153296080	-
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=)	4204	MECP2	Benign/Likely benign	61753012	RCV000169923\|RCV000720763\|RCV000755298\|RCV001529829\|RCV003380412;	N	MedGen:CN169374\|MedGen:C2711754\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296082	153296082	X:g.153296082G>A	ClinGen:CA199297	CN169374 not specified;
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs)	4204	MECP2	Pathogenic/Likely pathogenic	267608589	RCV000132906\|RCV000132928\|RCV001383623;	N	MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296082	153296116	X:g.153296082_153296116del	ClinGen:CA232907	CN517202 not provided;
NM_001110792.2(MECP2):c.1216_1233del (p.Glu406_Pro411del)	4204	MECP2	Likely benign	1557135368	RCV002528413;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296082	153296099	NC_000023.10:g.153296085_153296102del	ClinGen:CA658659053
NM_001110792.2(MECP2):c.1019_1233del (p.Leu340fs)	4204	MECP2	Pathogenic	2065914451	RCV001219789;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296082	153296296	X:g.153296082_153296180del	-
NM_001110792.2(MECP2):c.1163_1233del (p.Pro388fs)	4204	MECP2	Pathogenic	-1	RCV002819725;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296082	153296152	NC_000023.10:g.153296085_153296155del	-
NM_001110792.2(MECP2):c.1232C>T (p.Pro411Leu)	4204	MECP2	Benign/Likely benign	62915962	RCV000132956\|RCV000861155\|RCV001310755\|RCV003380460;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296083	153296083	X:g.153296083G>A	ClinGen:CA170200,UniProtKB:P51608#VAR_018220	CN169374 not specified;
NM_001110792.2(MECP2):c.1231C>T (p.Pro411Ser)	4204	MECP2	Likely benign	797045691	RCV000192988\|RCV001521814\|RCV002336514\|RCV002472371;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296084	153296084	NC_000023.10:g.153296084G>A	ClinGen:CA206184	CN169374 not specified;
NC_000023.10:g.(?_153296084)_(153338974_?)del	4204	MECP2	Pathogenic	-1	RCV003113639;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296084	153338974		-
NM_001110792.2(MECP2):c.1133_1231del (p.His378_Asp410del)	4204	MECP2	Uncertain significance	-1	RCV002815663;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296084	153296182	NC_000023.10:g.153296085_153296183del	-
NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs)	4204	MECP2	Pathogenic	1557135418	RCV000195245\|RCV003114347;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296085	153296272	NC_000023.10:g.153296090_153296277del	ClinGen:CA277461	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.1230C>T (p.Asp410=)	4204	MECP2	Likely benign	782741920	RCV001719081\|RCV002064352\|RCV002311959;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296085	153296085	X:g.153296085G>A	ClinGen:CA10558475	CN169374 not specified;
NM_001110792.2(MECP2):c.1182_1229del (p.Leu395_Asp410del)	4204	MECP2	Uncertain significance	2148659904	RCV001981776;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296086	153296133	153296085	-
NC_000023.10:g.(?_153296086)_(153297264_?)del	4204	MECP2	Pathogenic	-1	RCV003113637;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296086	153297264		-
NM_001110792.2(MECP2):c.1228G>T (p.Asp410Tyr)	4204	MECP2	Likely benign	1557135428	RCV001044971;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296087	153296087	X:g.153296087C>A	-
NM_001110792.2(MECP2):c.1201_1226del (p.Pro401fs)	4204	MECP2	Pathogenic	267608607	RCV000132935\|RCV001383622;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296089	153296114	X:g.153296089_153296114del	ClinGen:CA270257	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.1190_1226delinsAACAGAATTCACCACCGTAACCATTTGGAGCACAGCAGGCTCGAATCCAGCTCCATCCTGG	4204	MECP2	Pathogenic	1569548307	RCV000694390;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296089	153296125	NC_000023.10:g.153296089_153296125delinsCATCCCAGGACGCAGGTGGATCCGAGTCTGCTGCATAGACGGCCATTAGGTCCCAGGATGGAGCTGGATTCGAGCCTGCTGTGCTCCAAATGGTTACGGTGGTGAATTCT	-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1213_1226del (p.Pro405fs)	4204	MECP2	Pathogenic	-1	RCV002868019;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296089	153296102	NC_000023.10:g.153296089_153296102del	-
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)	4204	MECP2	Benign	56268439	RCV000081194\|RCV000202529\|RCV000224642\|RCV000716944\|RCV001081987\|RCV002498425;	N	MedGen:CN169374\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MedGen:C2711754\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095,Orph	X	153296090	153296090	X:g.153296090C>T	ClinGen:CA211306,UniProtKB:P51608#VAR_010283	CN517202 not provided;
NM_001110792.2(MECP2):c.1192_1224del (p.Leu398_Ser408del)	4204	MECP2	Pathogenic	1569548314	RCV000012616;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296091	153296123	X:g.153296091_153296123del	OMIM:300005.0034	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1187_1224del (p.Pro396fs)	4204	MECP2	Pathogenic	267608574	RCV000132877\|RCV002514761;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296091	153296128	X:g.153296091_153296128del	ClinGen:CA270210	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs)	4204	MECP2	Pathogenic	267608585	RCV000168702\|RCV001035576\|RCV003326356;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296091	153296122	X:g.153296091_153296122del	ClinGen:CA273843	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=)	4204	MECP2	Benign	781816931	RCV000193848\|RCV000659186\|RCV001088048\|RCV002336513\|RCV002472370;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296091	153296091	NC_000023.10:g.153296091G>A	ClinGen:CA207604	CN517202 not provided;
NM_001110792.2(MECP2):c.1198_1224del (p.Pro400_Ser408del)	4204	MECP2	Uncertain significance	782783878	RCV001767784\|RCV002544087;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296091	153296117	153296090	-
NM_001110792.2(MECP2):c.1200_1224del (p.Pro401fs)	4204	MECP2	Pathogenic	2148660011	RCV001951110\|RCV002290818;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296091	153296115	153296090	-
NC_000023.10:g.(?_153296091)_(153303781_?)del	4204	MECP2	Pathogenic	-1	RCV003113640;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296091	153303781		-
NM_001110792.2(MECP2):c.1223C>T (p.Ser408Phe)	4204	MECP2	Likely benign	782125862	RCV002542188;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296092	153296092	X:g.153296092G>A	-
NM_001110792.2(MECP2):c.1200_1223del (p.Pro401_Ser408del)	4204	MECP2	Uncertain significance	2148660070	RCV001945523;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296092	153296115	153296091	-
NC_000023.10:g.(?_153296093)_(153303797_?)del	4204	MECP2	Pathogenic	-1	RCV003116282;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296093	153303797		-
NM_001110792.2(MECP2):c.1221C>T (p.Ser407=)	4204	MECP2	Benign	782775618	RCV000970526;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296094	153296094	X:g.153296094G>A	-
NM_001110792.2(MECP2):c.1200_1220del (p.Pro401_Ser407del)	4204	MECP2	Uncertain significance	1557135539	RCV000645109;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296095	153296115	NC_000023.10:g.153296095_153296115del	ClinGen:CA658799892	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1219A>G (p.Ser407Gly)	4204	MECP2	Uncertain significance	1603307813	RCV000999553\|RCV001352373;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296096	153296096	X:g.153296096T>C	-
NM_001110792.2(MECP2):c.1218G>A (p.Glu406=)	4204	MECP2	Likely benign	1603307819	RCV000868713;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296097	153296097	X:g.153296097C>T	-
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys)	4204	MECP2	Benign	63094662	RCV000132947\|RCV000445563\|RCV001512332;	N	MedGen:CN169374\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296099	153296099	X:g.153296099C>T	ClinGen:CA170197,UniProtKB:P51608#VAR_018219	CN169374 not specified;
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del)	4204	MECP2	Likely benign	267608406	RCV000132922\|RCV000488269\|RCV000645134\|RCV001800446;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296100	153296117	X:g.153296100_153296117del	ClinGen:CA170191	CN517202 not provided;
NM_001110792.2(MECP2):c.1215C>T (p.Pro405=)	4204	MECP2	Likely benign	781898011	RCV000865189\|RCV001430855;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296100	153296100	X:g.153296100G>A	ClinGen:CA10558480	CN169374 not specified;
NM_001110792.2(MECP2):c.1172_1215del (p.Pro391fs)	4204	MECP2	Pathogenic	2148660220	RCV001954644;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296100	153296143	153296099	-
NM_001110792.2(MECP2):c.1215C>G (p.Pro405=)	4204	MECP2	Likely benign	781898011	RCV002126302;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296100	153296100	153296100	-
NM_001110792.2(MECP2):c.1136_1215del (p.His379fs)	4204	MECP2	Pathogenic	-1	RCV002837943;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296100	153296179	NC_000023.10:g.153296102_153296181del	-
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu)	4204	MECP2	Uncertain significance	267608402	RCV000132944\|RCV000622858\|RCV001849957;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296101	153296101	X:g.153296101G>A	ClinGen:CA232923	C0950123 Inborn genetic diseases;
NM_001110792.2(MECP2):c.1211A>C (p.Glu404Ala)	4204	MECP2	Conflicting interpretations of pathogenicity	1557135593	RCV000645111\|RCV002331200;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296104	153296104	X:g.153296104T>G	ClinGen:CA415167445	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1195_1210del (p.Pro399fs)	4204	MECP2	Pathogenic/Likely pathogenic	267608373	RCV000132905\|RCV002514762;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296105	153296120	NC_000023.10:g.153296109_153296124del	ClinGen:CA232906
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del)	4204	MECP2	Benign/Likely benign	61753008	RCV000132938\|RCV000169922\|RCV000445582\|RCV001080264;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296106	153296111	X:g.153296106_153296111del	ClinGen:CA199294	CN517202 not provided;
NM_001110792.2(MECP2):c.1209T>A (p.Pro403=)	4204	MECP2	Uncertain significance	1569548322	RCV001343850;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296106	153296106	153296106	-
NM_001110792.2(MECP2):c.1191_1208del (p.Leu398_Pro403del)	4204	MECP2	Likely benign	267608392	RCV000132884\|RCV001418755;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296107	153296124	X:g.153296107_153296124del	ClinGen:CA232902	CN517202 not provided;
NM_001110792.2(MECP2):c.1200_1208del (p.Pro401_Pro403del)	4204	MECP2	Uncertain significance	267608604	RCV000132930\|RCV001208707;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296107	153296115	NC_000023.10:g.153296109_153296117del	ClinGen:CA270251
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer)	4204	MECP2	Pathogenic/Likely pathogenic	2065919863	RCV001090498\|RCV001862678\|RCV002274137;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|Human Phenotype Ontology:HP:0012758,MedGen:C4022738	X	153296107	153296117	X:g.153296107_153296117del	-
NM_001110792.2(MECP2):c.1188_1207del (p.Pro396_Pro397insTer)	4204	MECP2	Pathogenic/Likely pathogenic	1557135631	RCV000523524\|RCV002525236;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296108	153296127	NC_000023.10:g.153296109_153296128del	ClinGen:CA658659055	CN517202 not provided;
NM_001110792.2(MECP2):c.1207C>A (p.Pro403Thr)	4204	MECP2	Uncertain significance	781794820	RCV001303511\|RCV003438739;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296108	153296108	153296108	-
NC_000023.10:g.(?_153296108)_(153301856_?)del	4204	MECP2	Pathogenic	-1	RCV001997197;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296108	153301856	-1	-
NC_000023.10:g.(?_153296109)_(153297633_?)del	4204	MECP2	Pathogenic	-1	RCV001875292;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296109	153297633	-1	-
NM_001110792.2(MECP2):c.1197_1205del (p.Pro401_Pro403del)	4204	MECP2	Uncertain significance	267608401	RCV000132917\|RCV001857481;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296110	153296118	X:g.153296110_153296118del	ClinGen:CA232912	CN517202 not provided;
NM_001110792.2(MECP2):c.1191_1205del (p.Leu398_Pro402del)	4204	MECP2	Uncertain significance	2148660412	RCV002048210;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296110	153296124	153296109	-
NM_001110792.2(MECP2):c.63-4487_1204del	4204	MECP2	Pathogenic	-1	RCV001035085;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296111	153302495	X:g.153296111_153296209del	-
NM_001110792.2(MECP2):c.1193_1204del (p.Leu398_Pro401del)	4204	MECP2	Likely benign	2148660433	RCV002099186;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296111	153296122	153296110	-
NM_001110792.2(MECP2):c.1199_1204delinsTCAGGTATAT (p.Pro400fs)	4204	MECP2	Pathogenic	-1	RCV002871483;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296111	153296116	NC_000023.10:g.153296111_153296116delinsATATACCTGA	-
NM_001110792.2(MECP2):c.1203T>A (p.Pro401=)	4204	MECP2	Likely benign	1469109249	RCV001432371;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296112	153296112	X:g.153296112A>T	-
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del)	4204	MECP2	Benign	267608332	RCV000132916\|RCV000170256\|RCV002055849\|RCV002472323;	N	MedGen:C3661900\|MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830, Orphanet:72\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296113	153296118	NC_000023.10:g.153296115_153296120del	ClinGen:CA232911
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del)	4204	MECP2	Benign	782174572	RCV000170253\|RCV001552219\|RCV002054017;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296113	153296124	NC_000023.10:g.153296119_153296130del	ClinGen:CA274655
NM_001110792.2(MECP2):c.1192_1202del (p.Leu398fs)	4204	MECP2	Pathogenic	-1	RCV002889745;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296113	153296123	NC_000023.10:g.153296115_153296125del	-
NM_001110792.2(MECP2):c.1181_1201del (p.Leu394_Pro400del)	4204	MECP2	Uncertain significance	-1	RCV003055202;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296114	153296134	NC_000023.10:g.153296118_153296138del	-
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)	4204	MECP2	Pathogenic	267608382	RCV000132871\|RCV001262717\|RCV001386238\|RCV001261387;	N	MedGen:CN517202\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:H	X	153296116	153296141	X:g.153296116_153296141del	ClinGen:CA232898	CN517202 not provided;
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu)	4204	MECP2	Benign	61753006	RCV000132924\|RCV000693901\|RCV001519066;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296116	153296116	X:g.153296116G>A	ClinGen:CA270246,UniProtKB:P51608#VAR_023559	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.1199del (p.Pro400fs)	4204	MECP2	Pathogenic	267608339	RCV001912904\|RCV003228017;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296116	153296116	153296115	-
NM_001110792.2(MECP2):c.491_1199delinsTGCGT (p.Pro164fs)	4204	MECP2	Pathogenic	-1	RCV002852605;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296116	153296824	NC_000023.10:g.153296116_153296824delinsACGCA	-
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)	4204	MECP2	Benign	61753000	RCV000169943\|RCV000726321\|RCV001078768\|RCV001257761\|RCV002515928;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:H	X	153296117	153296117	X:g.153296117G>A	ClinGen:CA274535,UniProtKB:P51608#VAR_018218	CN169374 not specified;
NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala)	4204	MECP2	Benign/Likely benign	61753000	RCV000172866\|RCV000524942\|RCV001719913\|RCV002354331;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	153296117	153296117	NC_000023.10:g.153296117G>C	ClinGen:CA274834	CN169374 not specified;
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=)	4204	MECP2	Benign	61750246	RCV000081193\|RCV000172863\|RCV000864677\|RCV001705751\|RCV002371928;	N	MedGen:CN169374\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	153296118	153296118	X:g.153296118G>A	ClinGen:CA148298	CN169374 not specified;
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu)	4204	MECP2	Benign	63390262	RCV000132908\|RCV000224689\|RCV000608016\|RCV001087050\|RCV001800445\|RCV002371977\|RCV002498651;	N	MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MeSH:D030342,MedGen:	X	153296119	153296119	X:g.153296119G>A	ClinGen:CA170185	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.1179_1196del (p.Leu394_Pro399del)	4204	MECP2	Likely benign	1291465065	RCV000797416;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296119	153296136	X:g.153296119_153296136del	-
NM_001110792.2(MECP2):c.63-7080_1196del	4204	MECP2	Pathogenic	-1	RCV001233088;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296119	153305088	X:g.153296119_153296217del	-
NM_001110792.2(MECP2):c.1184_1195del (p.Leu395_Leu398del)	4204	MECP2	Uncertain significance	782767712	RCV000613870\|RCV001338659\|RCV003328441;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296120	153296131	X:g.153296120_153296131del	ClinGen:CA10558490	CN169374 not specified;
NM_001110792.2(MECP2):c.1195C>T (p.Pro399Ser)	4204	MECP2	Uncertain significance	1171658384	RCV001211021\|RCV001576811;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296120	153296120	X:g.153296120G>A	-
NC_000023.10:g.(?_153296122)_(153316446_?)dup	4204	MECP2	Uncertain significance	-1	RCV001987607;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296122	153316446	-1	-
NM_001110792.2(MECP2):c.1192dup (p.Leu398fs)	4204	MECP2	Pathogenic/Likely pathogenic	-1	RCV003008535\|RCV003126264;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C0008073	X	153296122	153296123	NC_000023.10:g.153296126dup	-
NM_001110792.2(MECP2):c.1191C>T (p.Pro397=)	4204	MECP2	Likely benign	370226935	RCV001398943;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296124	153296124	153296124	-
NM_001110792.2(MECP2):c.1190C>A (p.Pro397His)	4204	MECP2	Likely benign	111302745	RCV000193703\|RCV000465490;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296125	153296125	NC_000023.10:g.153296125G>T	ClinGen:CA207373	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.1179_1190del (p.Leu395_Leu398del)	4204	MECP2	Uncertain significance	2148660709	RCV001915381;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296125	153296136	153296124	-
NM_001110792.2(MECP2):c.1189C>A (p.Pro397Thr)	4204	MECP2	Uncertain significance	782279709	RCV001060396;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296126	153296126	X:g.153296126G>T	-
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu)	4204	MECP2	Likely benign	193922676	RCV000170251\|RCV000588422\|RCV000822137\|RCV001582501\|RCV003162262;	N	MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296128	153296128	X:g.153296128G>A	ClinGen:CA199482	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.1179_1186del (p.Leu394fs)	4204	MECP2	Pathogenic	2148660746	RCV001993276;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296129	153296136	153296128	-
NM_001110792.2(MECP2):c.1185C>T (p.Leu395=)	4204	MECP2	Likely benign	782385010	RCV001455008;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296130	153296130	X:g.153296130G>A	-
NM_001110792.2(MECP2):c.1185C>G (p.Leu395=)	4204	MECP2	Likely benign	782385010	RCV001439235;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296130	153296130	153296130	-
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe)	4204	MECP2	Likely benign	1340029095	RCV000600874\|RCV001210472\|RCV001508974\|RCV003448328;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296132	153296132	X:g.153296132G>A	ClinGen:CA415167755	CN169374 not specified;
NM_001110792.2(MECP2):c.1170_1183del (p.Val392fs)	4204	MECP2	Pathogenic	2148660771	RCV002037861\|RCV002274236;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|Human Phenotype Ontology:HP:0012758,MedGen:C4022738	X	153296132	153296145	153296131	-
NM_001110792.2(MECP2):c.1180dup (p.Leu394fs)	4204	MECP2	Pathogenic	2148660777	RCV001943964;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296134	153296135	153296134	-
NM_001110792.2(MECP2):c.1165_1179del (p.Lys389_Pro393del)	4204	MECP2	Uncertain significance	2065924353	RCV001299418;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296136	153296150	153296135	-
NM_001110792.2(MECP2):c.1177C>T (p.Pro393Ser)	4204	MECP2	Uncertain significance	61752981	RCV000498332\|RCV002524071;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296138	153296138	X:g.153296138G>A	ClinGen:CA10558497	CN169374 not specified;
NM_001110792.2(MECP2):c.1176G>A (p.Val392=)	4204	MECP2	Benign	201711454	RCV000194285\|RCV000645138\|RCV001088580\|RCV001507043;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296139	153296139	X:g.153296139C>T	ClinGen:CA208360	CN169374 not specified;
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)	4204	MECP2	Benign	267608572	RCV000169942\|RCV000225614\|RCV000724404\|RCV001087462\|RCV002321616\|RCV002505117;	N	MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MONDO:M	X	153296141	153296141	X:g.153296141C>T	ClinGen:CA199319	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.1173dup (p.Val392fs)	4204	MECP2	Pathogenic	1557135793	RCV000660654\|RCV000702922\|RCV001009240\|RCV002249391;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202\|MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077	X	153296141	153296142	NC_000023.10:g.153296146dup	-	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.63-5778_1174del	4204	MECP2	Pathogenic	-1	RCV000805421;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296141	153303786	153296140	-
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=)	4204	MECP2	Benign/Likely benign	61752980	RCV000081192\|RCV000587649\|RCV000720865\|RCV001087585\|RCV003380411;	N	MedGen:CN169374\|MedGen:C3661900\|MedGen:C2711754\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296142	153296142	X:g.153296142G>A	ClinGen:CA148295	CN517202 not provided;
NM_001110792.2(MECP2):c.1173del (p.Val392fs)	4204	MECP2	Pathogenic/Likely pathogenic	1557135793	RCV000645108\|RCV001252979\|RCV003322610;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296142	153296142	X:g.153296142_153296142del	ClinGen:CA658799893	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1173C>A (p.Pro391=)	4204	MECP2	Likely benign	61752980	RCV001421619;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296142	153296142	X:g.153296142G>T	-
NM_001110792.2(MECP2):c.1172C>T (p.Pro391Leu)	4204	MECP2	Conflicting interpretations of pathogenicity	971722789	RCV001200554\|RCV002561076;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296143	153296143	X:g.153296143G>A	-
NM_001110792.2(MECP2):c.1171C>T (p.Pro391Ser)	4204	MECP2	Conflicting interpretations of pathogenicity	782050077	RCV001523564\|RCV001562588\|RCV002568044;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	153296144	153296144	153296144	-
NM_001110792.2(MECP2):c.1170C>T (p.Ala390=)	4204	MECP2	Likely benign	782751264	RCV000615597\|RCV002062845;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296145	153296145	X:g.153296145G>A	ClinGen:CA10558499	CN169374 not specified;
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly)	4204	MECP2	Uncertain significance	201314910	RCV000132865\|RCV001245011\|RCV001546726\|RCV002515927\|RCV003398777;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|	X	153296146	153296146	X:g.153296146G>C	ClinGen:CA270202	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val)	4204	MECP2	Benign	201314910	RCV000132866\|RCV000694069\|RCV001090499\|RCV002260616;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296146	153296146	X:g.153296146G>A	ClinGen:CA170175	CN169374 not specified;
NM_001110792.2(MECP2):c.1168G>T (p.Ala390Ser)	4204	MECP2	Likely benign	587783106	RCV001363572\|RCV001719912\|RCV003235061;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296147	153296147	NC_000023.10:g.153296147C>A	ClinGen:CA294667	CN169374 not specified;
NM_001110792.2(MECP2):c.1168G>A (p.Ala390Thr)	4204	MECP2	Likely benign	587783106	RCV000420177\|RCV001851034\|RCV003328336;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296147	153296147	X:g.153296147C>T	ClinGen:CA16608763	CN169374 not specified;
NM_001110792.2(MECP2):c.1167G>A (p.Lys389=)	4204	MECP2	Likely benign	1557135820	RCV001434985;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296148	153296148	153296148	-
NM_001110792.2(MECP2):c.1167G>C (p.Lys389Asn)	4204	MECP2	Uncertain significance	-1	RCV002695753;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296148	153296148	NC_000023.10:g.153296148C>G	-
NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg)	4204	MECP2	Uncertain significance	61752976	RCV000132861\|RCV001857480\|RCV003389403;	N	MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296152	153296152	X:g.153296152G>C	ClinGen:CA170172	C1845336 300496 Autism, susceptibility to, X-linked 3;
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)	4204	MECP2	Benign	61752387	RCV000081191\|RCV000458852\|RCV000659842\|RCV002444549;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MeSH:D030342,MedGen:C0950123	X	153296153	153296153	X:g.153296153G>A	ClinGen:CA148292,UniProtKB:P51608#VAR_018216	CN169374 not specified;
NM_001110792.2(MECP2):c.1161C>T (p.Ser387=)	4204	MECP2	Likely benign	782221170	RCV000596923\|RCV001522308\|RCV003448327;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296154	153296154	X:g.153296154G>A	ClinGen:CA10558501	CN169374 not specified;
NM_001110792.2(MECP2):c.1156G>C (p.Glu386Gln)	4204	MECP2	Conflicting interpretations of pathogenicity	2148660959	RCV002204014\|RCV003089069;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296159	153296159	153296159	-
NM_001110792.2(MECP2):c.1141_1152del (p.His381_His384del)	4204	MECP2	Uncertain significance	267608371	RCV000132857\|RCV001342919;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296163	153296174	X:g.153296163_153296174del	ClinGen:CA232887	CN517202 not provided;
NM_001110792.2(MECP2):c.1150C>T (p.His384Tyr)	4204	MECP2	Likely benign	375477214	RCV001000154\|RCV001242465\|RCV003448359;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296165	153296165	X:g.153296165G>A	-
NM_001110792.2(MECP2):c.1143_1145del (p.His384del)	4204	MECP2	Uncertain significance	2148661055	RCV001986360;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296170	153296172	153296169	-
NM_001110792.2(MECP2):c.1143T>C (p.His381=)	4204	MECP2	Likely benign	1557135877	RCV000645131;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296172	153296172	NC_000023.10:g.153296172A>G	ClinGen:CA519704864	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1134CCA[4] (p.His384dup)	4204	MECP2	Uncertain significance	61752381	RCV001090500\|RCV001368859;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296172	153296173	X:g.153296172_153296173insTGG	-
NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del)	4204	MECP2	Uncertain significance	61752381	RCV000132856\|RCV000522093\|RCV002515926;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296173	153296175	X:g.153296173_153296175del	ClinGen:CA270198	CN169374 not specified;
NM_001110792.2(MECP2):c.1141C>T (p.His381Tyr)	4204	MECP2	Uncertain significance	1346803557	RCV002021030;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296174	153296174	153296174	-
NM_001110792.2(MECP2):c.1140C>G (p.His380Gln)	4204	MECP2	Uncertain significance	-1	RCV002995831;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296175	153296175	NC_000023.10:g.153296175G>C	-
NM_001110792.2(MECP2):c.1138C>G (p.His380Asp)	4204	MECP2	Uncertain significance	781968415	RCV000645115;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296177	153296177	X:g.153296177G>C	ClinGen:CA337263265	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1137C>G (p.His379Gln)	4204	MECP2	Benign	1336019373	RCV002115773;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296178	153296178	153296178	-
NM_001110792.2(MECP2):c.1134C>T (p.His378=)	4204	MECP2	Likely benign	1557135898	RCV000660866\|RCV001584521\|RCV002530584;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296181	153296181	X:g.153296181G>A	-	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.1129_1134del (p.Glu377_His378del)	4204	MECP2	Uncertain significance	2065928263	RCV001203977;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296181	153296186	X:g.153296181_153296186del	-
NM_001110792.2(MECP2):c.1132C>G (p.His378Asp)	4204	MECP2	Uncertain significance	2065928374	RCV001070121;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296183	153296183	X:g.153296183G>C	-
NM_001110792.2(MECP2):c.1131G>A (p.Glu377=)	4204	MECP2	Benign	782085130	RCV002212387;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296184	153296184	153296184	-
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs)	4204	MECP2	Pathogenic	587783092	RCV000284365\|RCV001207928\|RCV002274968\|RCV002429211\|RCV002470836;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0	X	153296192	153296193	X:g.153296192_153296193insG	ClinGen:CA10603710	CN517202 not provided;
NM_001110792.2(MECP2):c.1122del (p.Lys375fs)	4204	MECP2	Pathogenic	587783092	RCV000144755\|RCV002514779;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296193	153296193	NC_000023.10:g.153296198del	ClinGen:CA294617	CN517202 not provided;
NM_001110792.2(MECP2):c.1122C>G (p.Pro374=)	4204	MECP2	Likely benign	1557135934	RCV001480417;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296193	153296193	X:g.153296193G>C	-
NM_001110792.2(MECP2):c.1122C>A (p.Pro374=)	4204	MECP2	Likely benign	-1	RCV003073824;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296193	153296193		-
NM_001110792.2(MECP2):c.1121C>T (p.Pro374Leu)	4204	MECP2	Uncertain significance	587783105	RCV001307174;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296194	153296194	153296194	-
NM_001110792.2(MECP2):c.1120C>G (p.Pro374Ala)	4204	MECP2	Benign	782171742	RCV000547379;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296195	153296195	NC_000023.10:g.153296195G>C	ClinGen:CA10558512	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1119C>T (p.Pro373=)	4204	MECP2	Likely benign	782803951	RCV001481724;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296196	153296196	153296196	-
NM_001110792.2(MECP2):c.1119C>A (p.Pro373=)	4204	MECP2	Likely benign	-1	RCV002820035;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296196	153296196		-
NM_001110792.2(MECP2):c.1118C>T (p.Pro373Leu)	4204	MECP2	Likely benign	782736700	RCV001315815;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296197	153296197	153296197	-
NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala)	4204	MECP2	Likely benign	61752373	RCV000132850\|RCV000867100\|RCV002260615;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296198	153296198	X:g.153296198G>C	ClinGen:CA170169	CN169374 not specified;
NM_001110792.2(MECP2):c.1117C>A (p.Pro373Thr)	4204	MECP2	Uncertain significance	61752373	RCV000691585\|RCV000999554;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296198	153296198	X:g.153296198G>T	-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1117C>T (p.Pro373Ser)	4204	MECP2	Conflicting interpretations of pathogenicity	61752373	RCV000812240\|RCV001593003;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153296198	153296198	X:g.153296198G>A	-
NM_001110792.2(MECP2):c.1116_1117delinsTA (p.Pro373Thr)	4204	MECP2	Conflicting interpretations of pathogenicity	2148661261	RCV002238615\|RCV003093918;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296198	153296199	153296198	-
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro)	4204	MECP2	Benign/Likely benign	61752371	RCV000132846\|RCV000470986\|RCV002415625;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296204	153296204	X:g.153296204A>G	UniProtKB:P51608#VAR_018215,ClinGen:CA170166	CN169374 not specified;
NM_001110792.2(MECP2):c.1111T>G (p.Ser371Ala)	4204	MECP2	Uncertain significance	-1	RCV002304427;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296204	153296204	153296204	-
NM_001110792.2(MECP2):c.1109C>T (p.Ala370Val)	4204	MECP2	Likely benign	1158736298	RCV002118822;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296206	153296206	153296206	-
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr)	4204	MECP2	Benign/Likely benign	147017239	RCV000030161\|RCV000132845\|RCV000645112\|RCV001256044\|RCV001703425;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:H	X	153296207	153296207	X:g.153296207C>T	ClinGen:CA170163	CN169374 not specified;
NM_001110792.2(MECP2):c.1108G>T (p.Ala370Ser)	4204	MECP2	Uncertain significance	147017239	RCV001350453;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296207	153296207	153296207	-
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=)	4204	MECP2	Benign/Likely benign	61750236	RCV000169921\|RCV000226173\|RCV002415578\|RCV003436928\|RCV003380410;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296208	153296208	X:g.153296208G>A	ClinGen:CA199291	CN169374 not specified;
NM_001110792.2(MECP2):c.1099AGC[2] (p.Ser369del)	4204	MECP2	Uncertain significance	267608564	RCV000132844\|RCV002515924;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296208	153296210	NC_000023.10:g.153296210TGC[2]	ClinGen:CA270187	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.1102A>G (p.Ser368Gly)	4204	MECP2	Benign	2148661316	RCV001521418;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296213	153296213	153296213	-
NM_001110792.2(MECP2):c.1087_1101del (p.Pro363_Ser367del)	4204	MECP2	Uncertain significance	267608384	RCV000132838\|RCV000820888;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296214	153296228	NC_000023.10:g.153296219_153296233del	ClinGen:CA232878	CN517202 not provided;
NM_001110792.2(MECP2):c.1100G>A (p.Ser367Asn)	4204	MECP2	Uncertain significance	-1	RCV002948425;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296215	153296215	NC_000023.10:g.153296215C>T	-
NM_001110792.2(MECP2):c.1098C>T (p.Arg366=)	4204	MECP2	Benign/Likely benign	782228941	RCV000419502\|RCV002524772;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296217	153296217	X:g.153296217G>A	ClinGen:CA10558519	CN169374 not specified;
NM_001110792.2(MECP2):c.1097G>T (p.Arg366Leu)	4204	MECP2	Conflicting interpretations of pathogenicity	61748387	RCV000132841\|RCV001465694\|RCV003380457;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296218	153296218	X:g.153296218C>A	ClinGen:CA170157	CN169374 not specified;
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys)	4204	MECP2	Benign	143876280	RCV000193184\|RCV000724672\|RCV001432219\|RCV002472366;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296219	153296219	X:g.153296219G>A	ClinGen:CA206493	CN169374 not specified;
NM_001110792.2(MECP2):c.1095G>A (p.Gly365=)	4204	MECP2	Likely benign	2065930750	RCV001506174;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296220	153296220	153296220	-
NM_001110792.2(MECP2):c.1089C>G (p.Pro363=)	4204	MECP2	Likely benign	782242577	RCV000170087\|RCV001459896\|RCV001582667\|RCV003380498;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296226	153296226	X:g.153296226G>C	ClinGen:CA199449	CN169374 not specified;
NM_001110792.2(MECP2):c.1086C>T (p.Ser362=)	4204	MECP2	Conflicting interpretations of pathogenicity	1557136001	RCV001493898\|RCV002388524\|RCV003438834;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	X	153296229	153296229	153296229	-
NC_000023.10:g.(?_153296231)_(153303837_?)del	4204	MECP2	Pathogenic	-1	RCV003116284;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296231	153303837		-
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del)	4204	MECP2	Likely pathogenic	1557136013	RCV000170227\|RCV001298644;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296235	153296408	NC_000023.10:g.153296241_153296414del	ClinGen:CA274615,dbVar:nssv7487134	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.1080G>C (p.Glu360Asp)	4204	MECP2	Uncertain significance	-1	RCV002825728;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296235	153296235	NC_000023.10:g.153296235C>G	-
NM_001110792.2(MECP2):c.1077G>A (p.Lys359=)	4204	MECP2	Likely benign	1043854626	RCV000437542\|RCV000920267;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296238	153296238	X:g.153296238C>T	ClinGen:CA16608786	CN169374 not specified;
NM_001110792.2(MECP2):c.1075A>C (p.Lys359Gln)	4204	MECP2	Uncertain significance	2148661453	RCV001999234;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296240	153296240	153296240	-
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=)	4204	MECP2	Benign	61752362	RCV000146347\|RCV000757450\|RCV000716152\|RCV001084528\|RCV003380420;	N	MedGen:CN169374\|MedGen:C3661900\|MedGen:C2711754\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296244	153296244	X:g.153296244T>C	ClinGen:CA172555	CN169374 not specified;
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp)	4204	MECP2	Benign	61752361	RCV000132833\|RCV000863677\|RCV001571972;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153296249	153296249	X:g.153296249G>A	ClinGen:CA270179,UniProtKB:P51608#VAR_018214	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.1061C>G (p.Pro354Arg)	4204	MECP2	Uncertain significance	1569548372	RCV000691863\|RCV002289970;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296254	153296254	NC_000023.10:g.153296254G>C	-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1059C>T (p.Ser353=)	4204	MECP2	Likely benign	2065932294	RCV001402445;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296256	153296256	153296256	-
NM_001110792.2(MECP2):c.1058G>A (p.Ser353Asn)	4204	MECP2	Likely benign	782708218	RCV001867609;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296257	153296257	153296257	-
NM_001110792.2(MECP2):c.1055dup (p.Ser353fs)	4204	MECP2	Pathogenic	1557136059	RCV000534765;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296259	153296260	X:g.153296259_153296260insT	ClinGen:CA658659060	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1055A>G (p.Lys352Arg)	4204	MECP2	Likely benign	781944561	RCV002160684;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296260	153296260	153296260	-
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser)	4204	MECP2	Uncertain significance	786204313	RCV000168699\|RCV000766082\|RCV001850385;	N	MedGen:CN169374\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778; MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260, Orphanet:1762; MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496; MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orph	X	153296266	153296266	X:g.153296266G>C	ClinGen:CA198840	CN169374 not specified;
NM_001110792.2(MECP2):c.1033_1037del (p.Gly345fs)	4204	MECP2	Pathogenic	1569548376	RCV000699118;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296278	153296282	NC_000023.10:g.153296278_153296282del	-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.1035G>A (p.Gly345=)	4204	MECP2	Likely benign	61751451	RCV001469103;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296280	153296280	153296280	-
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=)	4204	MECP2	Benign/Likely benign	148744894	RCV000133310\|RCV000418955\|RCV001086747\|RCV002312956\|RCV003380490;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296283	153296283	X:g.153296283G>A	ClinGen:CA170427	CN517202 not provided;
NM_001110792.2(MECP2):c.1031G>A (p.Ser344Asn)	4204	MECP2	Uncertain significance	896762572	RCV000812170;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296284	153296284	X:g.153296284C>T	-
NM_001110792.2(MECP2):c.1030A>G (p.Ser344Gly)	4204	MECP2	Uncertain significance	2148661618	RCV001970775;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296285	153296285	153296285	-
NM_001110792.2(MECP2):c.1029G>C (p.Lys343Asn)	4204	MECP2	Uncertain significance	-1	RCV003015843;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296286	153296286	NC_000023.10:g.153296286C>G	-
NM_001110792.2(MECP2):c.1028A>G (p.Lys343Arg)	4204	MECP2	Conflicting interpretations of pathogenicity	267608557	RCV000133307\|RCV001512172\|RCV003389408;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296287	153296287	X:g.153296287T>C	ClinGen:CA170424	CN169374 not specified;
NM_001110792.2(MECP2):c.984_1023del (p.Lys329fs)	4204	MECP2	Pathogenic	2148661645	RCV001386239;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296292	153296331	153296291	-
NM_001110792.2(MECP2):c.1021G>A (p.Gly341Ser)	4204	MECP2	Benign	201871183	RCV000133305\|RCV001518051\|RCV003380489;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296294	153296294	X:g.153296294C>T	ClinGen:CA170421	CN169374 not specified;
NM_001110792.2(MECP2):c.1020_1021insA (p.Gly341fs)	4204	MECP2	Pathogenic	2148661665	RCV002035425;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296294	153296295	153296294	-
NM_001110792.2(MECP2):c.1020C>A (p.Leu340=)	4204	MECP2	Likely benign	61751442	RCV000133303\|RCV002514768;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296295	153296295	X:g.153296295G>T	ClinGen:CA170418	CN169374 not specified;
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=)	4204	MECP2	Benign/Likely benign	61751442	RCV000168697\|RCV000863441\|RCV001705939\|RCV002381449\|RCV003380488;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296295	153296295	NC_000023.10:g.153296295G>A	ClinGen:CA198839	CN169374 not specified;
NM_001110792.2(MECP2):c.1020C>G (p.Leu340=)	4204	MECP2	Benign	-1	RCV002985623;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296295	153296295		-
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val)	4204	MECP2	Uncertain significance	267608556	RCV000133302\|RCV001372487\|RCV001753520;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153296297	153296297	X:g.153296297G>C	ClinGen:CA270593	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.1014C>T (p.Ser338=)	4204	MECP2	Likely benign	374670136	RCV001411539\|RCV001546255;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296301	153296301	153296301	-
NM_001110792.2(MECP2):c.898_1014del (p.Val300_Ser338del)	4204	MECP2	Uncertain significance	2148661699	RCV001991153;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296301	153296417	153296300	-
NM_001110792.2(MECP2):c.1013C>A (p.Ser338Tyr)	4204	MECP2	Benign	1557136107	RCV001367642;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296302	153296302	153296302	-
NM_001110792.2(MECP2):c.1006C>G (p.Leu336Val)	4204	MECP2	Uncertain significance	2065934195	RCV001228840\|RCV001726456;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296309	153296309	X:g.153296309G>C	-
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu)	4204	MECP2	Pathogenic	61751450	RCV000133300\|RCV000414666\|RCV001849960;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296314	153296314	X:g.153296314G>A	ClinGen:CA270591,UniProtKB:P51608#VAR_018213	CN517202 not provided;
NM_001110792.2(MECP2):c.991G>A (p.Val331Met)	4204	MECP2	Uncertain significance	1569548388	RCV000768019;	N	MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077; MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370; MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496; MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260, Orphanet:1762; MONDO:MONDO:00107	X	153296324	153296324	NC_000023.10:g.153296324C>T	-
NM_001110792.2(MECP2):c.990A>G (p.Glu330=)	4204	MECP2	Likely benign	141454727	RCV001433246;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296325	153296325	153296325	-
NM_001110792.2(MECP2):c.984C>G (p.Val328=)	4204	MECP2	Likely benign	61751447	RCV000133296\|RCV001504798\|RCV003380487;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296331	153296331	X:g.153296331G>C	ClinGen:CA170415	CN169374 not specified;
NM_001110792.2(MECP2):c.984C>T (p.Val328=)	4204	MECP2	Likely benign	61751447	RCV002218281;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296331	153296331	153296331	-
NM_001110792.2(MECP2):c.978C>T (p.Ile326=)	4204	MECP2	Benign/Likely benign	61751446	RCV000133295\|RCV000472062\|RCV000717800\|RCV001682841\|RCV002492518\|RCV003380486;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C2711754\|MedGen:C3661900\|MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260, Orphanet:1762; MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778; MOND	X	153296337	153296337	X:g.153296337G>A	ClinGen:CA170412	CN169374 not specified;
NC_000023.10:g.(?_153296339)_(153306264_?)del	4204	MECP2	Pathogenic	-1	RCV003116285;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296339	153306264		-
NM_001110792.2(MECP2):c.970dup (p.Val324fs)	4204	MECP2	Pathogenic	2148661854	RCV001939480;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296344	153296345	153296344	-
NM_001110792.2(MECP2):c.969G>A (p.Thr323=)	4204	MECP2	Likely benign	782335201	RCV001419283;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296346	153296346	153296346	-
NM_001110792.2(MECP2):c.969G>C (p.Thr323=)	4204	MECP2	Likely benign	-1	RCV002998845;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296346	153296346		-
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)	4204	MECP2	Benign	61751445	RCV000030168\|RCV000133294\|RCV000426076\|RCV000712288\|RCV001089108\|RCV002316203;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:	X	153296347	153296347	X:g.153296347G>A	ClinGen:CA170409	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.933_968del (p.Leu313_Val324del)	4204	MECP2	Uncertain significance	2065935510	RCV001303608;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296347	153296382	153296346	-
NM_001110792.2(MECP2):c.962G>A (p.Arg321Gln)	4204	MECP2	Likely pathogenic	2065935636	RCV001235683;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296353	153296353	X:g.153296353C>T	-
NM_001110792.2(MECP2):c.954_962del (p.Lys319_Arg321del)	4204	MECP2	Pathogenic	2148661892	RCV001390995;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296353	153296361	153296352	-
NM_001110792.2(MECP2):c.954C>G (p.Arg318=)	4204	MECP2	Likely benign	782383967	RCV001459752;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296361	153296361	153296361	-
NM_001110792.2(MECP2):c.953G>A (p.Arg318His)	4204	MECP2	Pathogenic/Likely pathogenic	61751443	RCV000133290\|RCV000256087\|RCV001778753\|RCV001857484;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:CN517202\|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296362	153296362	NC_000023.10:g.153296362C>T	ClinGen:CA270588,UniProtKB:P51608#VAR_018211	CN517202 not provided;
NM_001110792.2(MECP2):c.953G>C (p.Arg318Pro)	4204	MECP2	Pathogenic/Likely pathogenic	61751443	RCV000623502\|RCV002531911;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296362	153296362	NC_000023.10:g.153296362C>G	ClinGen:CA415168992	C0950123 Inborn genetic diseases;
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg)	4204	MECP2	Pathogenic/Likely pathogenic	61751441	RCV000133289\|RCV002515934;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296365	153296365	X:g.153296365T>C	ClinGen:CA270586,UniProtKB:P51608#VAR_018210	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.948G>C (p.Lys316Asn)	4204	MECP2	Conflicting interpretations of pathogenicity	1603308358	RCV000811977\|RCV002370183;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296367	153296367	X:g.153296367C>G	-
NM_001110792.2(MECP2):c.942C>G (p.Pro314=)	4204	MECP2	Likely benign	61751438	RCV000133282\|RCV001395758;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296373	153296373	X:g.153296373G>C	ClinGen:CA170400	CN169374 not specified;
NM_001110792.2(MECP2):c.942C>T (p.Pro314=)	4204	MECP2	Likely benign	61751438	RCV000866117;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296373	153296373	X:g.153296373G>A	-
NM_001110792.2(MECP2):c.934_942del (p.Val312_Pro314del)	4204	MECP2	Uncertain significance	2065937019	RCV001231968;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296373	153296381	X:g.153296373_153296381del	-
NM_001110792.2(MECP2):c.941C>A (p.Pro314His)	4204	MECP2	Pathogenic	61749723	RCV000133279\|RCV001237156\|RCV001571974;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153296374	153296374	X:g.153296374G>T	UniProtKB:P51608#VAR_018207,ClinGen:CA270570	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg)	4204	MECP2	Pathogenic/Likely pathogenic	61749723	RCV000133280\|RCV002515933\|RCV003114287;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153296374	153296374	X:g.153296374G>C	ClinGen:CA270572,UniProtKB:P51608#VAR_018209	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu)	4204	MECP2	Pathogenic	61749723	RCV000133281\|RCV000413239\|RCV000754784;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296374	153296374	X:g.153296374G>A	ClinGen:CA270574,UniProtKB:P51608#VAR_018208	CN517202 not provided;
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser)	4204	MECP2	Pathogenic/Likely pathogenic	61751373	RCV000133278\|RCV001067586\|RCV001812116;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296375	153296375	X:g.153296375G>A	ClinGen:CA270567	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val)	4204	MECP2	Conflicting interpretations of pathogenicity	1557136251	RCV001928901\|RCV002466274\|RCV002558489;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MeSH:D030342,MedGen:C0950123	X	153296378	153296378	153296378	-
NM_001110792.2(MECP2):c.934G>C (p.Val312Leu)	4204	MECP2	Uncertain significance	-1	RCV002806882;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296381	153296381	NC_000023.10:g.153296381C>G	-
NM_001110792.2(MECP2):c.933C>T (p.Thr311=)	4204	MECP2	Benign/Likely benign	61748423	RCV000081216\|RCV000712287\|RCV000715091\|RCV001080108\|RCV002490712\|RCV003380417;	N	MedGen:CN169374\|MedGen:C3661900\|MedGen:C2711754\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077; MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496; MONDO:MONDO:0010283,MedGen:C184	X	153296382	153296382	X:g.153296382G>A	ClinGen:CA148331	CN169374 not specified;
NM_001110792.2(MECP2):c.925C>T (p.Gln309Ter)	4204	MECP2	Pathogenic	61751367	RCV000133269\|RCV000688413;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296390	153296390	X:g.153296390G>A	ClinGen:CA270553	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.924G>A (p.Val308=)	4204	MECP2	Likely benign	1603308444	RCV001474223;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296391	153296391	X:g.153296391C>T	-
NM_001110792.2(MECP2):c.920C>G (p.Ser307Cys)	4204	MECP2	Uncertain significance	1327387670	RCV001372043\|RCV002243162;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296395	153296395	153296395	-
NM_001110792.2(MECP2):c.918A>G (p.Arg306=)	4204	MECP2	Benign/Likely benign	782744332	RCV001517219\|RCV001712690;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296397	153296397	X:g.153296397T>C	ClinGen:CA10558537	CN169374 not specified;
NM_001110792.2(MECP2):c.917G>A (p.Arg306Gln)	4204	MECP2	Likely benign	61751366	RCV001465292\|RCV001558098;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296398	153296398	153296398	-
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	4204	MECP2	Pathogenic	61751362	RCV000012590\|RCV000012591\|RCV000081215\|RCV000474366\|RCV000515413\|RCV000624805\|RCV001420261\|RCV003335027;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496\|MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496; MO	X	153296399	153296399	NC_000023.10:g.153296399G>A	ClinGen:CA121700,OMIM:300005.0011	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.913A>G (p.Ile305Val)	4204	MECP2	Uncertain significance	1557136286	RCV001212372;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296402	153296402	X:g.153296402T>C	-
NM_001110792.2(MECP2):c.911C>G (p.Ser304Cys)	4204	MECP2	Uncertain significance	1557136290	RCV001294905;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296404	153296404	153296404	-
NM_001110792.2(MECP2):c.908C>G (p.Ser303Cys)	4204	MECP2	Uncertain significance	1326849768	RCV000623456\|RCV001855298;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296407	153296407	NC_000023.10:g.153296407G>C	ClinGen:CA415169544	C0950123 Inborn genetic diseases;
NM_001110792.2(MECP2):c.905A>G (p.Glu302Gly)	4204	MECP2	Uncertain significance	2148662194	RCV001365623;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296410	153296410	153296410	-
NM_001110792.2(MECP2):c.898G>A (p.Val300Met)	4204	MECP2	Benign/Likely benign	782455664	RCV000659841\|RCV000720695\|RCV001513197;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C2711754\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296417	153296417	X:g.153296417C>T	-	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.897C>T (p.Ala299=)	4204	MECP2	Benign/Likely benign	139378224	RCV000081214\|RCV000645128\|RCV001711243;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296418	153296418	X:g.153296418G>A	ClinGen:CA148328	CN169374 not specified;
NM_001110792.2(MECP2):c.896C>A (p.Ala299Asp)	4204	MECP2	Uncertain significance	-1	RCV003014134;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296419	153296419	NC_000023.10:g.153296419G>T	-
NM_001110792.2(MECP2):c.892_895del (p.Lys298fs)	4204	MECP2	Pathogenic	61750256	RCV000168696\|RCV000816077\|RCV001265859;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296420	153296423	NC_000023.10:g.153296420CTTT[1]	ClinGen:CA273842	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro)	4204	MECP2	Likely benign	61750257	RCV000133258\|RCV000417939\|RCV000794396;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296420	153296420	X:g.153296420C>G	ClinGen:CA270538,UniProtKB:P51608#VAR_018204	CN169374 not specified;
NM_001110792.2(MECP2):c.891G>C (p.Lys297Asn)	4204	MECP2	Uncertain significance	-1	RCV003032367;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296424	153296424	NC_000023.10:g.153296424C>G	-
NM_001110792.2(MECP2):c.888A>G (p.Lys296=)	4204	MECP2	Benign	1475733695	RCV002192314;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296427	153296427	153296427	-
NM_001110792.2(MECP2):c.885C>G (p.Ala295=)	4204	MECP2	Benign/Likely benign	61750253	RCV000146346\|RCV000462569\|RCV001705938\|RCV002312955;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	153296430	153296430	NC_000023.10:g.153296430G>C	ClinGen:CA172552	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.875CCG[1] (p.Ala293del)	4204	MECP2	Uncertain significance	1569548405	RCV000699119;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296435	153296437	NC_000023.10:g.153296436GGC[1]	-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.879C>T (p.Ala293=)	4204	MECP2	Benign	61750252	RCV000168695\|RCV000469217\|RCV001080832\|RCV002312905\|RCV003380419;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296436	153296436	X:g.153296436G>A	ClinGen:CA198836	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.878C>G (p.Ala293Gly)	4204	MECP2	Uncertain significance	2148662326	RCV002039175;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296437	153296437	153296437	-
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr)	4204	MECP2	Benign	782239416	RCV000431253\|RCV000873957\|RCV001519911\|RCV003168669\|RCV003448307;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296438	153296438	X:g.153296438C>T	ClinGen:CA10558543	CN169374 not specified;
NM_001110792.2(MECP2):c.876C>T (p.Ala292=)	4204	MECP2	Benign	61750251	RCV000169929\|RCV000415963\|RCV001088291\|RCV002260612\|RCV002444590;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MeSH:D030342,MedGen:C0950123	X	153296439	153296439	X:g.153296439G>A	ClinGen:CA199315	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.876del (p.Ala293fs)	4204	MECP2	Pathogenic/Likely pathogenic	1557136332	RCV000706646\|RCV000659839;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296439	153296439	X:g.153296439_153296439del	-	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.873T>C (p.Ala291=)	4204	MECP2	Likely benign	1603308618	RCV001500182;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296442	153296442	X:g.153296442A>G	-
NM_001110792.2(MECP2):c.872C>G (p.Ala291Gly)	4204	MECP2	Benign	61750249	RCV002117417;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296443	153296443	153296443	-
NM_001110792.2(MECP2):c.870C>T (p.Ala290=)	4204	MECP2	Benign/Likely benign	61750248	RCV000168694\|RCV000589640\|RCV000716695\|RCV001080240;	N	MedGen:CN169374\|MedGen:C3661900\|MedGen:C2711754\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296445	153296445	X:g.153296445G>A	ClinGen:CA198833	CN517202 not provided;
NM_001110792.2(MECP2):c.869C>T (p.Ala290Val)	4204	MECP2	Conflicting interpretations of pathogenicity	781971438	RCV001373177\|RCV002466670\|RCV003394013;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|	X	153296446	153296446	153296446	-
NM_001110792.2(MECP2):c.861G>A (p.Val287=)	4204	MECP2	Likely benign	782202718	RCV001394360;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296454	153296454	153296454	-
NM_001110792.2(MECP2):c.860T>C (p.Val287Ala)	4204	MECP2	Conflicting interpretations of pathogenicity	143989769	RCV000497544\|RCV001049497\|RCV002431445;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296455	153296455	X:g.153296455A>G	ClinGen:CA337263623	CN169374 not specified;
NM_001110792.2(MECP2):c.856A>G (p.Ser286Gly)	4204	MECP2	Uncertain significance	-1	RCV002304909;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296459	153296459	153296459	-
NM_001110792.2(MECP2):c.855G>T (p.Gly285=)	4204	MECP2	Benign	61750245	RCV000133248\|RCV000172862\|RCV000712286\|RCV001079813\|RCV002426696;	N	MedGen:CN169374\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296460	153296460	X:g.153296460C>A	ClinGen:CA170383	CN169374 not specified;
NM_001110792.2(MECP2):c.855G>C (p.Gly285=)	4204	MECP2	Likely benign	61750245	RCV001495688;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296460	153296460	153296460	-
NM_001110792.2(MECP2):c.852G>A (p.Pro284=)	4204	MECP2	Conflicting interpretations of pathogenicity	587783746	RCV000146360\|RCV002055904;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296463	153296463	NC_000023.10:g.153296463C>T	ClinGen:CA172580	CN169374 not specified;
NM_001110792.2(MECP2):c.852G>C (p.Pro284=)	4204	MECP2	Likely benign	587783746	RCV001397245;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296463	153296463	153296463	-
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu)	4204	MECP2	Benign/Likely benign	61750243	RCV000081213\|RCV001522063\|RCV001704000\|RCV003380416;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296464	153296464	X:g.153296464G>A	ClinGen:CA148325	CN169374 not specified;
NM_001110792.2(MECP2):c.851C>G (p.Pro284Arg)	4204	MECP2	Uncertain significance	61750243	RCV001224601;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296464	153296464	X:g.153296464G>C	-
NM_001110792.2(MECP2):c.846A>G (p.Arg282=)	4204	MECP2	Benign/Likely benign	782743949	RCV000465721\|RCV001521217\|RCV002418452;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296469	153296469	NC_000023.10:g.153296469T>C	ClinGen:CA10558550	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)	4204	MECP2	Pathogenic	61750240	RCV000012586\|RCV000081212\|RCV000169940\|RCV000146359\|RCV000515283\|RCV000624100\|RCV001196907\|RCV001705588;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|\|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496; MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,O	X	153296471	153296471	NC_000023.10:g.153296471G>A	ClinGen:CA172577,OMIM:300005.0005	C1845336 300496 Autism, susceptibility to, X-linked 3;
NM_001110792.2(MECP2):c.844del (p.Arg282fs)	4204	MECP2	Pathogenic	62931162	RCV000133243\|RCV000168692\|RCV001008096;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:CN517202	X	153296471	153296471	X:g.153296471_153296471del	ClinGen:CA273840	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.842dup (p.Arg282fs)	4204	MECP2	Pathogenic	-1	RCV003013849;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296472	153296473	NC_000023.10:g.153296476dup	-
NM_001110792.2(MECP2):c.842del (p.Gly281fs)	4204	MECP2	Pathogenic	61750241	RCV000081211\|RCV000170113\|RCV000168691\|RCV000169939\|RCV000624370\|RCV000850572\|RCV001000009\|RCV002251971\|RCV003227637\|RCV003333025;	N	MedGen:C3661900\|MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MONDO:M	X	153296473	153296473	NC_000023.10:g.153296476del	ClinGen:CA199475,OMIM:300005.0003	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)	4204	MECP2	Uncertain significance	61750239	RCV000133241\|RCV000707260\|RCV000766083\|RCV001284746\|RCV001800457;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260, Orphanet:1762; MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778; MONDO:MONDO:0010397,MedGen:C1968556,	X	153296477	153296477	X:g.153296477G>A	ClinGen:CA233007	CN517202 not provided;
NM_001110792.2(MECP2):c.838C>A (p.Arg280=)	4204	MECP2	Likely benign	-1	RCV003121722;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296477	153296477		-
NM_001110792.2(MECP2):c.798_837del (p.Lys266fs)	4204	MECP2	Pathogenic	2148662532	RCV001925264;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296478	153296517	153296477	-
NM_001110792.2(MECP2):c.837A>G (p.Lys279=)	4204	MECP2	Likely benign	-1	RCV002760311;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296478	153296478		-
NM_001110792.2(MECP2):c.826A>G (p.Ile276Val)	4204	MECP2	Uncertain significance	1181961523	RCV001872801;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296489	153296489	153296489	-
NM_001110792.2(MECP2):c.825C>T (p.Ala275=)	4204	MECP2	Likely benign	782444398	RCV001504595;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296490	153296490	X:g.153296490G>A	-
NM_001110792.2(MECP2):c.813C>T (p.Ala271=)	4204	MECP2	Benign/Likely benign	1042870	RCV000081210\|RCV000225594\|RCV000712285\|RCV001087780;	N	MedGen:CN169374\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296502	153296502	X:g.153296502G>A	ClinGen:CA148322	CN169374 not specified;
NM_001110792.2(MECP2):c.813C>A (p.Ala271=)	4204	MECP2	Likely benign	1042870	RCV001434762;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296502	153296502	153296502	-
NM_001110792.2(MECP2):c.806C>G (p.Ala269Gly)	4204	MECP2	Benign	2148662683	RCV001513844;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296509	153296509	153296509	-
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	4204	MECP2	Pathogenic/Likely pathogenic	61749721	RCV000012602\|RCV000081209\|RCV000169938\|RCV000553858\|RCV000515183\|RCV001813976\|RCV002273928\|RCV002313706\|RCV003335028;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010342,MedGen:C1845336,	X	153296516	153296516	X:g.153296516G>A	ClinGen:CA212520,OMIM:300005.0021	C1845336 300496 Autism, susceptibility to, X-linked 3;
NM_001110792.2(MECP2):c.795G>A (p.Arg265=)	4204	MECP2	Likely benign	-1	RCV003068440;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296520	153296520		-
NM_001110792.2(MECP2):c.789dup (p.Gly264fs)	4204	MECP2	Pathogenic/Likely pathogenic	61749751	RCV000144424\|RCV000133229\|RCV000170112;	N	MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296525	153296526	X:g.153296525_153296526insG	ClinGen:CA233199	CN517202 not provided;
NM_001110792.2(MECP2):c.789C>T (p.Pro263=)	4204	MECP2	Benign/Likely benign	63582063	RCV000133227\|RCV000712284\|RCV000719501\|RCV001085738;	N	MedGen:CN169374\|MedGen:C3661900\|MedGen:C2711754\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296526	153296526	X:g.153296526G>A	ClinGen:CA170377	CN169374 not specified;
NM_001110792.2(MECP2):c.785_788dup (p.Gly264fs)	4204	MECP2	Pathogenic	-1	RCV002851902;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296526	153296527	NC_000023.10:g.153296528_153296531dup	-
NM_001110792.2(MECP2):c.786C>A (p.Arg262=)	4204	MECP2	Benign/Likely benign	61748424	RCV000133222\|RCV001089025;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296529	153296529	X:g.153296529G>T	ClinGen:CA233002	CN517202 not provided;
NM_001110792.2(MECP2):c.786C>T (p.Arg262=)	4204	MECP2	Benign/Likely benign	61748424	RCV000146357\|RCV000528933\|RCV001711301\|RCV002316920\|RCV003380482;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296529	153296529	X:g.153296529G>A	ClinGen:CA172574	CN169374 not specified;
NM_001110792.2(MECP2):c.785_786insT (p.Gly264fs)	4204	MECP2	Pathogenic	1603308957	RCV000823208;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296529	153296530	X:g.153296529_153296530insA	-
NM_001110792.2(MECP2):c.786C>G (p.Arg262=)	4204	MECP2	Likely benign	61748424	RCV002194538\|RCV003388103;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN169374	X	153296529	153296529	153296529	-
NM_001110792.2(MECP2):c.785G>A (p.Arg262His)	4204	MECP2	Uncertain significance	61750227	RCV000133221\|RCV000721068\|RCV001231150\|RCV001588992\|RCV001800456\|RCV003390828;	N	MedGen:CN169374\|MedGen:C2711754\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|	X	153296530	153296530	X:g.153296530C>T	ClinGen:CA170371	CN169374 not specified;
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys)	4204	MECP2	Likely benign	141382970	RCV000192395\|RCV000757451\|RCV001043679\|RCV003390928\|RCV003448285;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296531	153296531	NC_000023.10:g.153296531G>A	ClinGen:CA205183	CN169374 not specified;
NM_001110792.2(MECP2):c.782A>G (p.Lys261Arg)	4204	MECP2	Uncertain significance	-1	RCV003033813;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296533	153296533	NC_000023.10:g.153296533T>C	-
NM_001110792.2(MECP2):c.780C>G (p.Ile260Met)	4204	MECP2	Likely benign	782086243	RCV000686804;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296535	153296535	NC_000023.10:g.153296535G>C	-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.771C>G (p.Val257=)	4204	MECP2	Benign/Likely benign	782027467	RCV000457731\|RCV000781522\|RCV001672782\|RCV002383867;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN169374\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	153296544	153296544	NC_000023.10:g.153296544G>C	ClinGen:CA10558560	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter)	4204	MECP2	Pathogenic	61749747	RCV000168689\|RCV000178228\|RCV001854431;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296549	153296549	X:g.153296549G>A	ClinGen:CA202766	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.765C>A (p.Thr255=)	4204	MECP2	Likely benign	1557136570	RCV001412058;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296550	153296550	153296550	-
NM_001110792.2(MECP2):c.759A>G (p.Thr253=)	4204	MECP2	Likely benign	1416619132	RCV002079352\|RCV003438959;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296556	153296556	153296556	-
NM_001110792.2(MECP2):c.756C>T (p.Thr252=)	4204	MECP2	Likely benign	61749746	RCV000133211\|RCV001500045;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296559	153296559	X:g.153296559G>A	ClinGen:CA170370	CN169374 not specified;
NM_001110792.2(MECP2):c.753C>A (p.Ala251=)	4204	MECP2	Likely benign	1057520963	RCV000435693\|RCV002524890;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296562	153296562	X:g.153296562G>T	ClinGen:CA16609148	CN169374 not specified;
NM_001110792.2(MECP2):c.753C>T (p.Ala251=)	4204	MECP2	Likely benign	1057520963	RCV001433133\|RCV003438794;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296562	153296562	153296562	-
NM_001110792.2(MECP2):c.744_751del (p.Gly249fs)	4204	MECP2	Pathogenic	2065947222	RCV001059005\|RCV001266395;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296564	153296571	X:g.153296564_153296571del	-
NM_001110792.2(MECP2):c.750G>A (p.Gly250=)	4204	MECP2	Likely benign	369813305	RCV000192514\|RCV001515210\|RCV003235115;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296565	153296565	X:g.153296565C>T	ClinGen:CA205378	CN169374 not specified;
NM_001110792.2(MECP2):c.748G>T (p.Gly250Trp)	4204	MECP2	Uncertain significance	-1	RCV003030517;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296567	153296567	NC_000023.10:g.153296567C>A	-
NM_001110792.2(MECP2):c.746dup (p.Gly250fs)	4204	MECP2	Pathogenic/Likely pathogenic	61749743	RCV000133208\|RCV002515932\|RCV003156073;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496	X	153296568	153296569	X:g.153296568_153296569insC	ClinGen:CA270507	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.746del (p.Gly249fs)	4204	MECP2	Pathogenic	61749743	RCV000012620\|RCV000506656\|RCV001045878\|RCV002362579;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296569	153296569	NC_000023.10:g.153296574del	ClinGen:CA256097,OMIM:300005.0038	CN169374 not specified;
NM_001110792.2(MECP2):c.745G>A (p.Gly249Ser)	4204	MECP2	Uncertain significance	782493538	RCV001209986;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296570	153296570	X:g.153296570C>T	-
NM_001110792.2(MECP2):c.741G>A (p.Glu247=)	4204	MECP2	Likely benign	2148663015	RCV001564515\|RCV002569024;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296574	153296574	153296574	-
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly)	4204	MECP2	Benign	138211345	RCV000723954\|RCV001079662\|RCV002362777\|RCV002472365;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296578	153296578	NC_000023.10:g.153296578G>C	ClinGen:CA294719	CN169374 not specified;
NM_001110792.2(MECP2):c.737C>T (p.Ala246Val)	4204	MECP2	Uncertain significance	138211345	RCV000645116;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296578	153296578	X:g.153296578G>A	ClinGen:CA415172430	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.732del (p.Lys245fs)	4204	MECP2	Pathogenic	61749741	RCV000133205\|RCV001233179;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296583	153296583	X:g.153296583_153296583del	ClinGen:CA270506	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala)	4204	MECP2	Benign	61748422	RCV000133202\|RCV000547951\|RCV001689676\|RCV003380481;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296584	153296584	X:g.153296584C>G	ClinGen:CA170364,UniProtKB:P51608#VAR_018201	CN169374 not specified;
NM_001110792.2(MECP2):c.731del (p.Gly244fs)	4204	MECP2	Pathogenic	63260260	RCV000133203\|RCV001385710\|RCV003137641;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153296584	153296584	X:g.153296584_153296584del	ClinGen:CA270504	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.727G>T (p.Gly243Trp)	4204	MECP2	Uncertain significance	587783139	RCV001312900;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296588	153296588	153296588	-
NM_001110792.2(MECP2):c.726A>C (p.Pro242=)	4204	MECP2	Likely benign	61749740	RCV000133201\|RCV001499651\|RCV003380480;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296589	153296589	X:g.153296589T>G	ClinGen:CA170361	CN169374 not specified;
NM_001110792.2(MECP2):c.726del (p.Gly244fs)	4204	MECP2	Pathogenic	1064793576	RCV000482709\|RCV001251834\|RCV002526534;	N	MedGen:CN517202\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296589	153296589	NC_000023.10:g.153296589del	ClinGen:CA16621246	CN517202 not provided;
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr)	4204	MECP2	Uncertain significance	1209806388	RCV001936687\|RCV002246606\|RCV003134273;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN169374\|MedGen:C3661900	X	153296591	153296591	153296591	-
NM_001110792.2(MECP2):c.724C>G (p.Pro242Ala)	4204	MECP2	Uncertain significance	1209806388	RCV001900325;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296591	153296591	153296591	-
NM_001110792.2(MECP2):c.723G>T (p.Ser241=)	4204	MECP2	Conflicting interpretations of pathogenicity	782461567	RCV000438000\|RCV001087926\|RCV002318492;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296592	153296592	X:g.153296592C>A	ClinGen:CA16608317	CN169374 not specified;
NM_001110792.2(MECP2):c.723G>A (p.Ser241=)	4204	MECP2	Likely benign	782461567	RCV001402076;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296592	153296592	153296592	-
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu)	4204	MECP2	Benign/Likely benign	61749739	RCV000133200\|RCV000460836\|RCV001719908;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153296593	153296593	X:g.153296593G>A	ClinGen:CA170358,UniProtKB:P51608#VAR_018200	CN169374 not specified;
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser)	4204	MECP2	Benign	61749738	RCV000146356\|RCV000535349\|RCV000715147\|RCV001705937;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C2711754\|MedGen:C3661900	X	153296596	153296596	X:g.153296596G>C	ClinGen:CA172571,UniProtKB:P51608#VAR_018199	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu)	4204	MECP2	Uncertain significance	61749737	RCV000133197\|RCV001522685\|RCV002472328;	N	MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296600	153296600	X:g.153296600G>C	ClinGen:CA170355	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)	4204	MECP2	Pathogenic	61749715	RCV000133193\|RCV000476280\|RCV000626873\|RCV001090502;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human	X	153296605	153296605	X:g.153296605G>C	ClinGen:CA270500,UniProtKB:P51608#VAR_018198	C1854882 Absent speech;
NM_001110792.2(MECP2):c.702C>G (p.Val234=)	4204	MECP2	Benign	61749735	RCV000133191\|RCV000645133;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296613	153296613	X:g.153296613G>C	ClinGen:CA170352	CN169374 not specified;
NM_001110792.2(MECP2):c.696C>T (p.Leu232=)	4204	MECP2	Benign/Likely benign	267608512	RCV000168687\|RCV000842156\|RCV002514767\|RCV003380479;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296619	153296619	X:g.153296619G>A	ClinGen:CA198830	CN169374 not specified;
NM_001110792.2(MECP2):c.696C>G (p.Leu232=)	4204	MECP2	Likely benign	-1	RCV002995758;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296619	153296619		-
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu)	4204	MECP2	Likely pathogenic	878853312	RCV000225456\|RCV001056633;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296629	153296629	X:g.153296629G>A	ClinGen:CA10581615	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.682A>G (p.Ser228Gly)	4204	MECP2	Benign	782777382	RCV002157216;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296633	153296633	153296633	-
NM_001110792.2(MECP2):c.674dup (p.Glu226fs)	4204	MECP2	Pathogenic	2148663296	RCV001384353;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296640	153296641	153296640	-
NM_001110792.2(MECP2):c.673C>G (p.Leu225Val)	4204	MECP2	Benign/Likely benign	782473355	RCV002226170\|RCV003089209;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296642	153296642	153296642	-
NM_001110792.2(MECP2):c.672C>A (p.Val224=)	4204	MECP2	Likely benign	1557136728	RCV001469606;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296643	153296643	153296643	-
NM_001110792.2(MECP2):c.672C>T (p.Val224=)	4204	MECP2	Likely benign	1557136728	RCV002153025;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296643	153296643	153296643	-
NM_001110792.2(MECP2):c.671T>A (p.Val224Asp)	4204	MECP2	Uncertain significance	2065950854	RCV001972893\|RCV002280200;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296644	153296644	153296644	-
NM_001110792.2(MECP2):c.670G>T (p.Val224Phe)	4204	MECP2	Likely benign	1569548445	RCV001416199;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296645	153296645	NC_000023.10:g.153296645C>A	-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.670del (p.Val224fs)	4204	MECP2	Pathogenic	2065950974	RCV001060527;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296645	153296645	X:g.153296645_153296645del	-
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser)	4204	MECP2	Benign/Likely benign	61749731	RCV000133184\|RCV000645121\|RCV001719907\|RCV002354329\|RCV003380478;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296646	153296646	X:g.153296646C>G	ClinGen:CA170349	CN169374 not specified;
NM_001110792.2(MECP2):c.669G>T (p.Arg223Ser)	4204	MECP2	Likely benign	61749731	RCV001471449;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296646	153296646	153296646	-
NM_001110792.2(MECP2):c.659A>G (p.Gln220Arg)	4204	MECP2	Uncertain significance	1603309169	RCV000811076;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296656	153296656	X:g.153296656T>C	-
NM_001110792.2(MECP2):c.656T>C (p.Val219Ala)	4204	MECP2	Conflicting interpretations of pathogenicity	868943420	RCV000361062\|RCV002522026;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296659	153296659	X:g.153296659A>G	ClinGen:CA10606762	CN169374 not specified;
NM_001110792.2(MECP2):c.654T>C (p.Gly218=)	4204	MECP2	Likely benign	-1	RCV002607252;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296661	153296661		-
NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala)	4204	MECP2	Benign	63485860	RCV000133178\|RCV000457783\|RCV001711300\|RCV002472327;	N	MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296662	153296662	X:g.153296662C>G	ClinGen:CA170346	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.628_645dup (p.Arg210_Thr215dup)	4204	MECP2	Uncertain significance	782003860	RCV001326736;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296669	153296670	153296669	-
NM_001110792.2(MECP2):c.645G>A (p.Thr215=)	4204	MECP2	Benign/Likely benign	61749722	RCV000133174\|RCV000527600\|RCV003436955;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296670	153296670	X:g.153296670C>T	ClinGen:CA170343	CN169374 not specified;
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met)	4204	MECP2	Benign	61749720	RCV000081206\|RCV000232718\|RCV001079342\|RCV001507027\|RCV002316245;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MeSH:D030342,MedGen:C0950123	X	153296671	153296671	X:g.153296671G>A	ClinGen:CA148319,UniProtKB:P51608#VAR_018196	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.642C>T (p.Ala214=)	4204	MECP2	Likely benign	782254448	RCV001786261\|RCV002541241;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296673	153296673	153296673	-
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val)	4204	MECP2	Benign/Likely benign	587783138	RCV000144811\|RCV002055866\|RCV003227673;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260, Orphanet:1762; MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778; MONDO:MONDO:0010397,MedGen:C1968556,	X	153296674	153296674	NC_000023.10:g.153296674G>A	ClinGen:CA294713	CN169374 not specified;
NM_001110792.2(MECP2):c.641C>G (p.Ala214Gly)	4204	MECP2	Uncertain significance	587783138	RCV001055625\|RCV003396688;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN169374	X	153296674	153296674	X:g.153296674G>C	-
NM_001110792.2(MECP2):c.639G>A (p.Ala213=)	4204	MECP2	Benign/Likely benign	267608504	RCV000169927\|RCV000473085;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296676	153296676	X:g.153296676C>T	ClinGen:CA199309	CN169374 not specified;
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)	4204	MECP2	Benign	61748381	RCV000153477\|RCV000202489\|RCV000224215\|RCV000717310\|RCV001083234\|RCV002498620;	N	MedGen:CN169374\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MedGen:C2711754\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260, Orphanet:1762; MOND	X	153296677	153296677	X:g.153296677G>A	ClinGen:CA211932,UniProtKB:P51608#VAR_010281	CN517202 not provided;
NM_001110792.2(MECP2):c.634A>G (p.Lys212Glu)	4204	MECP2	Uncertain significance	-1	RCV003066412;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296681	153296681	NC_000023.10:g.153296681T>C	-
NM_001110792.2(MECP2):c.633C>G (p.Pro211=)	4204	MECP2	Benign	782619288	RCV000866215\|RCV002064532\|RCV003448354;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296682	153296682	X:g.153296682G>C	-
NM_001110792.2(MECP2):c.632C>G (p.Pro211Arg)	4204	MECP2	Likely benign	267608502	RCV000610375\|RCV000691182\|RCV002528655;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296683	153296683	X:g.153296683G>C	ClinGen:CA10558583	CN169374 not specified;
NM_001110792.2(MECP2):c.632C>T (p.Pro211Leu)	4204	MECP2	Uncertain significance	267608502	RCV001209680;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296683	153296683	X:g.153296683G>A	-
NM_001110792.2(MECP2):c.631C>T (p.Pro211Ser)	4204	MECP2	Benign	373329231	RCV002149391;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296684	153296684	153296684	-
NM_001110792.2(MECP2):c.631C>A (p.Pro211Thr)	4204	MECP2	Conflicting interpretations of pathogenicity	-1	RCV002604799\|RCV003230754;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN169374	X	153296684	153296684	NC_000023.10:g.153296684G>T	-
NM_001110792.2(MECP2):c.627G>A (p.Thr209=)	4204	MECP2	Likely benign	61749716	RCV000133168\|RCV000645126\|RCV002354328\|RCV003380477;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296688	153296688	X:g.153296688C>T	ClinGen:CA170337	CN169374 not specified;
NM_001110792.2(MECP2):c.627G>C (p.Thr209=)	4204	MECP2	Likely benign	61749716	RCV001443966;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296688	153296688	X:g.153296688C>G	ClinGen:CA10558586	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)	4204	MECP2	Benign/Likely benign	61749714	RCV000169928\|RCV000224787\|RCV000225683\|RCV000626211\|RCV001086086\|RCV002316387;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:	X	153296689	153296689	X:g.153296689G>A	ClinGen:CA199312,UniProtKB:P51608#VAR_018195	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)	4204	MECP2	Benign/Likely benign	61749713	RCV000133167\|RCV000533995\|RCV000720795\|RCV000990999\|RCV001529816\|RCV002498652;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C2711754\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370; MO	X	153296692	153296692	X:g.153296692G>C	ClinGen:CA170334,UniProtKB:P51608#VAR_018194	CN169374 not specified;
NM_001110792.2(MECP2):c.621C>T (p.Gly207=)	4204	MECP2	Benign	61749712	RCV000133166\|RCV000558061\|RCV001729406\|RCV002354327;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	153296694	153296694	X:g.153296694G>A	ClinGen:CA170331	CN169374 not specified;
NM_001110792.2(MECP2):c.618C>T (p.Ser206=)	4204	MECP2	Benign/Likely benign	61749711	RCV000081205\|RCV000470805\|RCV000718465\|RCV001529048;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C2711754\|MedGen:C3661900	X	153296697	153296697	X:g.153296697G>A	ClinGen:CA148316	CN169374 not specified;
NM_001110792.2(MECP2):c.609C>G (p.Pro203=)	4204	MECP2	Likely benign	61749710	RCV000865893;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296706	153296706	X:g.153296706G>C	-
NM_001110792.2(MECP2):c.606C>T (p.Arg202=)	4204	MECP2	Likely benign	782556129	RCV001460843;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296709	153296709	153296709	-
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys)	4204	MECP2	Uncertain significance	587783137	RCV000144810\|RCV000645120\|RCV000680040;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296711	153296711	NC_000023.10:g.153296711G>A	ClinGen:CA294710	CN517202 not provided;
NM_001110792.2(MECP2):c.600G>A (p.Arg200=)	4204	MECP2	Likely benign	2148663671	RCV002163545;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296715	153296715	153296715	-
NM_001110792.2(MECP2):c.598C>T (p.Arg200Trp)	4204	MECP2	Uncertain significance	782467549	RCV000686617\|RCV001584555;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296717	153296717	NC_000023.10:g.153296717G>A	-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.597C>A (p.Gly199=)	4204	MECP2	Likely benign	200074866	RCV000457241;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296718	153296718	NC_000023.10:g.153296718G>T	ClinGen:CA16616642	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.589G>T (p.Gly197Cys)	4204	MECP2	Uncertain significance	-1	RCV003027825;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296726	153296726	NC_000023.10:g.153296726C>A	-
NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser)	4204	MECP2	Benign	782419414	RCV001513735\|RCV001724326;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153296728	153296728	153296728	-
NM_001110792.2(MECP2):c.582A>G (p.Pro194=)	4204	MECP2	Likely benign	1275293022	RCV001470265;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296733	153296733	153296733	-
NM_001110792.2(MECP2):c.580C>T (p.Pro194Ser)	4204	MECP2	Uncertain significance	-1	RCV002294928\|RCV002510602;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077	X	153296735	153296735	153296735	-
NM_001110792.2(MECP2):c.579T>C (p.Ala193=)	4204	MECP2	Likely benign	1557136875	RCV000645123;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296736	153296736	NC_000023.10:g.153296736A>G	ClinGen:CA415173778	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.573_574insT (p.Lys192Ter)	4204	MECP2	Pathogenic	2148663769	RCV001897006;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296741	153296742	153296741	-
NM_001110792.2(MECP2):c.573C>G (p.Pro191=)	4204	MECP2	Benign	782676768	RCV002115713;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296742	153296742	153296742	-
NM_001110792.2(MECP2):c.571C>G (p.Pro191Ala)	4204	MECP2	Uncertain significance	1362774583	RCV000497938\|RCV001070300;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296744	153296744	X:g.153296744G>C	ClinGen:CA415173835	CN169374 not specified;
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys)	4204	MECP2	Conflicting interpretations of pathogenicity	782314807	RCV000585605\|RCV000780398\|RCV002065127\|RCV003420023;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|	X	153296746	153296746	NC_000023.10:g.153296746G>C	ClinGen:CA10558596
NM_001110792.2(MECP2):c.564C>G (p.Pro188=)	4204	MECP2	Likely benign	61754420	RCV000133152\|RCV001520964\|RCV001800455\|RCV002345448;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MeSH:D030342,MedGen:C0950123	X	153296751	153296751	X:g.153296751G>C	ClinGen:CA232982	CN517202 not provided;
NM_001110792.2(MECP2):c.564C>T (p.Pro188=)	4204	MECP2	Benign/Likely benign	61754420	RCV000193432\|RCV002056995;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296751	153296751	NC_000023.10:g.153296751G>A	ClinGen:CA206921	CN169374 not specified;
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg)	4204	MECP2	Benign/Likely benign	61749701	RCV000133151\|RCV000587767\|RCV002515931\|RCV003380475;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296752	153296752	X:g.153296752G>C	ClinGen:CA170319	CN517202 not provided;
NM_001110792.2(MECP2):c.563C>A (p.Pro188His)	4204	MECP2	Likely benign	61749701	RCV000678233\|RCV001472971\|RCV002317047\|RCV002472369;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296752	153296752	X:g.153296752G>T	ClinGen:CA245268	CN517202 not provided;
NM_001110792.2(MECP2):c.563C>T (p.Pro188Leu)	4204	MECP2	Uncertain significance	61749701	RCV000467894\|RCV002244934;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296752	153296752	NC_000023.10:g.153296752G>A	ClinGen:CA16616643	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.562C>T (p.Pro188Ser)	4204	MECP2	Likely benign	186663314	RCV001550288\|RCV002568315;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296753	153296753	153296753	-
NM_001110792.2(MECP2):c.562C>G (p.Pro188Ala)	4204	MECP2	Likely benign	-1	RCV002586816;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296753	153296753	NC_000023.10:g.153296753G>C	-
NM_001110792.2(MECP2):c.561G>A (p.Lys187=)	4204	MECP2	Likely benign	-1	RCV002833230;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296754	153296754		-
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg)	4204	MECP2	Uncertain significance	267608492	RCV000133149\|RCV000192592\|RCV000686598;	N	MedGen:CN169374\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296761	153296761	NC_000023.10:g.153296761G>C	ClinGen:CA170316	CN169374 not specified;
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala)	4204	MECP2	Likely benign	61748427	RCV000133148\|RCV000513430\|RCV000766084\|RCV002055855;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370; MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778; MONDO:MONDO:0010283,Med	X	153296762	153296762	X:g.153296762G>C	ClinGen:CA270458	CN517202 not provided;
NM_001110792.2(MECP2):c.551C>T (p.Pro184Leu)	4204	MECP2	Conflicting interpretations of pathogenicity	267608491	RCV000133147\|RCV002055854\|RCV002336286\|RCV003398778;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|	X	153296764	153296764	X:g.153296764G>A	ClinGen:CA170313	CN169374 not specified;
NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser)	4204	MECP2	Uncertain significance	61748426	RCV000133146\|RCV002515930;	N	MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296765	153296765	X:g.153296765G>A	ClinGen:CA170310	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.550C>A (p.Pro184Thr)	4204	MECP2	Conflicting interpretations of pathogenicity	61748426	RCV001193434\|RCV001344042;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296765	153296765	X:g.153296765G>T	-
NM_001110792.2(MECP2):c.549A>G (p.Lys183=)	4204	MECP2	Likely benign	781872600	RCV001402738;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296766	153296766	153296766	-
NM_001110792.2(MECP2):c.544C>T (p.Gln182Ter)	4204	MECP2	Pathogenic	61748425	RCV000133144\|RCV001219355;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296771	153296771	X:g.153296771G>A	ClinGen:CA270454	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter)	4204	MECP2	Pathogenic	1603309480	RCV000991001\|RCV001869365;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296774	153296774	X:g.153296774C>A	-
NM_001110792.2(MECP2):c.536G>C (p.Arg179Pro)	4204	MECP2	Likely pathogenic	2148663951	RCV001980568;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296779	153296779	153296779	-
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)	4204	MECP2	Pathogenic	61748420	RCV000133142\|RCV000193537\|RCV000498300\|RCV000688107\|RCV002252000\|RCV002336285;	N	MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|\|MeSH:D030342,MedGen:C0950123	X	153296780	153296780	NC_000023.10:g.153296780G>A	ClinGen:CA170308,UniProtKB:P51608#VAR_018192	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.531C>T (p.Pro177=)	4204	MECP2	Benign/Likely benign	376821032	RCV000645125\|RCV002334145;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296784	153296784	NC_000023.10:g.153296784G>A	ClinGen:CA10558603	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.531C>G (p.Pro177=)	4204	MECP2	Likely benign	376821032	RCV002203264;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296784	153296784	153296784	-
NM_001110792.2(MECP2):c.529C>T (p.Pro177Ser)	4204	MECP2	Uncertain significance	2148663974	RCV002015021;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296786	153296786	153296786	-
NM_001110792.2(MECP2):c.524_525del (p.Gly175fs)	4204	MECP2	Pathogenic	267608488	RCV000133140\|RCV000170111;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296790	153296791	X:g.153296790_153296791del	ClinGen:CA270453,OMIM:300005.0032	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.510G>A (p.Thr170=)	4204	MECP2	Benign/Likely benign	61748413	RCV000133130\|RCV001090503\|RCV002055853;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296805	153296805	NC_000023.10:g.153296805C>T	ClinGen:CA170302	CN169374 not specified;
NM_001110792.2(MECP2):c.510G>T (p.Thr170=)	4204	MECP2	Likely benign	-1	RCV002843206;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296805	153296805		-
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	4204	MECP2	Pathogenic/Likely pathogenic	28934906	RCV000012580\|RCV000133129\|RCV000170110\|RCV000169935\|RCV000170109\|RCV000507589\|RCV000623451\|RCV000763199\|RCV001813975\|RCV002247328\|RCV002273926;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496\|MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Or	X	153296806	153296806	X:g.153296806G>A	ClinGen:CA211252,UniProtKB:P51608#VAR_010275,OMIM:300005.0007	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.509C>A (p.Thr170Lys)	4204	MECP2	Likely pathogenic	28934906	RCV002010858;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296806	153296806	153296806	-
NM_001110792.2(MECP2):c.509C>G (p.Thr170Arg)	4204	MECP2	Likely pathogenic	-1	RCV003048506;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296806	153296806	NC_000023.10:g.153296806G>C	-
NM_001110792.2(MECP2):c.507C>G (p.Phe169Leu)	4204	MECP2	Pathogenic	267608484	RCV000133127\|RCV001385711;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296808	153296808	X:g.153296808G>C	ClinGen:CA270435	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu)	4204	MECP2	Pathogenic/Likely pathogenic	267608484	RCV001328391\|RCV001863184;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296808	153296808	153296808	-
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile)	4204	MECP2	Likely pathogenic	61748410	RCV000133123\|RCV000170239\|RCV001815200;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900	X	153296810	153296810	X:g.153296810A>T	ClinGen:CA274628	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu)	4204	MECP2	Pathogenic	61748408	RCV000081204\|RCV000169946\|RCV000815972;	N	MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296811	153296811	X:g.153296811G>C	ClinGen:CA202769	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)	4204	MECP2	Pathogenic	61748404	RCV000133116\|RCV000254929\|RCV000445575\|RCV000801154\|RCV002247513\|RCV002326847\|RCV003224165;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MeSH:D030342,MedGen:	X	153296824	153296824	X:g.153296824G>C	ClinGen:CA270424,UniProtKB:P51608#VAR_010280	CN517202 not provided;
NM_001110792.2(MECP2):c.490C>A (p.Pro164Thr)	4204	MECP2	Likely pathogenic	-1	RCV002894195;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296825	153296825	NC_000023.10:g.153296825G>T	-
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly)	4204	MECP2	Likely pathogenic	61748403	RCV000133114\|RCV000801156;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296827	153296827	NC_000023.10:g.153296827T>C	ClinGen:CA270421	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.486G>C (p.Leu162=)	4204	MECP2	Likely benign	1060504124	RCV001482270;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296829	153296829	NC_000023.10:g.153296829C>G	ClinGen:CA16616447	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.484C>T (p.Leu162=)	4204	MECP2	Benign	371082040	RCV002216944;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296831	153296831	153296831	-
NM_001110792.2(MECP2):c.483C>A (p.Ser161=)	4204	MECP2	Likely benign	782231195	RCV001469001;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296832	153296832	153296832	-
NM_001110792.2(MECP2):c.480A>G (p.Thr160=)	4204	MECP2	Likely benign	2148664166	RCV001417341;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296835	153296835	153296835	-
NM_001110792.2(MECP2):c.478A>G (p.Thr160Ala)	4204	MECP2	Conflicting interpretations of pathogenicity	1282284627	RCV000890166\|RCV002332859;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296837	153296837	X:g.153296837T>C	-
NM_001110792.2(MECP2):c.477C>G (p.Asp159Glu)	4204	MECP2	Uncertain significance	782468872	RCV001957206;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296838	153296838	153296838	-
NM_001110792.2(MECP2):c.474C>T (p.Gly158=)	4204	MECP2	Likely benign	61748386	RCV000133110\|RCV000556419\|RCV001800454;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296841	153296841	X:g.153296841G>A	ClinGen:CA232966	CN517202 not provided;
NM_001110792.2(MECP2):c.464A>C (p.Glu155Ala)	4204	MECP2	Uncertain significance	1557137072	RCV001998645;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296851	153296851	153296851	-
NM_001110792.2(MECP2):c.463G>A (p.Glu155Lys)	4204	MECP2	Uncertain significance	1233476760	RCV001981972;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296852	153296852	153296852	-
NM_001110792.2(MECP2):c.462C>T (p.Phe154=)	4204	MECP2	Benign/Likely benign	61748397	RCV000081203\|RCV000645137\|RCV002262623\|RCV002326797;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	153296853	153296853	X:g.153296853G>A	ClinGen:CA148313	CN169374 not specified;
NM_001110792.2(MECP2):c.459C>T (p.Tyr153=)	4204	MECP2	Likely benign	61748396	RCV002201415;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296856	153296856	153296856	-
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys)	4204	MECP2	Pathogenic	61748395	RCV000133104\|RCV001849959;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296857	153296857	X:g.153296857T>C	ClinGen:CA270411	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.456G>A (p.Ala152=)	4204	MECP2	Likely benign	782082759	RCV000472603\|RCV000613617;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN169374	X	153296859	153296859	NC_000023.10:g.153296859C>T	ClinGen:CA10558609	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)	4204	MECP2	Pathogenic/Likely pathogenic	28934908	RCV000012596\|RCV000020628\|RCV000224266\|RCV000414791\|RCV000544176\|RCV001004016\|RCV001197458\|RCV001249626\|RCV001257756\|RCV001374894\|RCV002326676\|RCV002466399;	N	MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|8 conditions\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|Human Phenotype Ontolog	X	153296860	153296860	X:g.153296860G>A	ClinGen:CA121703,UniProtKB:P51608#VAR_010279,OMIM:300005.0015	C0423110 Downslanted palpebral fissures;
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly)	4204	MECP2	Pathogenic	61748392	RCV000012598\|RCV001230698\|RCV001566839;	N	MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153296869	153296869	X:g.153296869T>C	ClinGen:CA121705,UniProtKB:P51608#VAR_017581,OMIM:300005.0017	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.441A>C (p.Lys147Asn)	4204	MECP2	Likely pathogenic	-1	RCV002852039;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296874	153296874	NC_000023.10:g.153296874T>G	-
NM_001110792.2(MECP2):c.438T>C (p.Ser146=)	4204	MECP2	Likely benign	-1	RCV002825298;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296877	153296877		-
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)	4204	MECP2	Pathogenic/Likely pathogenic	61748390	RCV000133095\|RCV000375578\|RCV000698431\|RCV002371979;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296878	153296878	NC_000023.10:g.153296878G>C	ClinGen:CA270396,UniProtKB:P51608#VAR_010278	CN517202 not provided;
NM_001110792.2(MECP2):c.435C>T (p.Arg145=)	4204	MECP2	Likely benign	782178841	RCV002172387;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296880	153296880	153296880	-
NM_001110792.2(MECP2):c.434G>A (p.Arg145His)	4204	MECP2	Pathogenic	61748389	RCV000133092\|RCV000169945\|RCV002514766;	N	MedGen:CN517202\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296881	153296881	X:g.153296881C>T	ClinGen:CA274538,UniProtKB:P51608#VAR_018189	CN517202 not provided;
NM_001110792.2(MECP2):c.429C>G (p.Ala143=)	4204	MECP2	Benign	61748385	RCV000133090\|RCV000415752\|RCV000721058\|RCV001518782\|RCV001800453;	N	MedGen:CN169374\|MedGen:C3661900\|MedGen:C2711754\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153296886	153296886	X:g.153296886G>C	ClinGen:CA170296	CN517202 not provided;
NM_001110792.2(MECP2):c.427G>C (p.Ala143Pro)	4204	MECP2	Uncertain significance	-1	RCV002876235;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296888	153296888	NC_000023.10:g.153296888C>G	-
NM_001110792.2(MECP2):c.420G>A (p.Gln140=)	4204	MECP2	Likely benign	2148664374	RCV001484516;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296895	153296895	153296895	-
NM_001110792.2(MECP2):c.414-3_419del	4204	MECP2	Pathogenic	267608466	RCV000144116\|RCV000170201;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296896	153296904	NC_000023.10:g.153296896_153296904delTGGGGACTG	ClinGen:CA233153	CN517202 not provided;
NM_001110792.2(MECP2):c.418C>T (p.Gln140Ter)	4204	MECP2	Pathogenic	267608469	RCV000133086\|RCV000698528;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296897	153296897	X:g.153296897G>A	ClinGen:CA270376	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.418C>A (p.Gln140Lys)	4204	MECP2	Likely pathogenic	267608469	RCV001062759;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296897	153296897	X:g.153296897G>T	-
NM_001110792.2(MECP2):c.417C>G (p.Pro139=)	4204	MECP2	Likely benign	782752095	RCV000594054\|RCV001404570;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296898	153296898	X:g.153296898G>C	ClinGen:CA10558614	CN169374 not specified;
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu)	4204	MECP2	Pathogenic	267608387	RCV000133085\|RCV000531543;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296899	153296899	NC_000023.10:g.153296899G>A	ClinGen:CA270373	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.414-3C>G	4204	MECP2	Pathogenic	267608465	RCV000144115\|RCV000170202\|RCV000800164\|RCV001000857\|RCV002345450\|RCV003224800;	N	MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260,Orpha	X	153296904	153296904	X:g.153296904G>C	ClinGen:CA233152	CN517202 not provided;
NM_001110792.2(MECP2):c.414-3C>T	4204	MECP2	Benign	267608465	RCV000625805\|RCV001034244;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296904	153296904	NC_000023.10:g.153296904G>A	ClinGen:CA10558616	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.414-5C>T	4204	MECP2	Benign	-1	RCV003057035;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296906	153296906	NC_000023.10:g.153296906G>A	-
NM_001110792.2(MECP2):c.414-6C>G	4204	MECP2	Benign	782482746	RCV000225484\|RCV001711619\|RCV002055002;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296907	153296907	NC_000023.10:g.153296907G>C	ClinGen:CA10558620	CN169374 not specified;
NM_001110792.2(MECP2):c.414-6C>A	4204	MECP2	Uncertain significance	782482746	RCV001066682;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296907	153296907	X:g.153296907G>T	-
NM_001110792.2(MECP2):c.414-8C>A	4204	MECP2	Likely benign	-1	RCV003029994;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296909	153296909	NC_000023.10:g.153296909G>T	-
NM_001110792.2(MECP2):c.414-10G>A	4204	MECP2	Likely benign	1557137196	RCV001396631;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296911	153296911	153296911	-
NM_001110792.2(MECP2):c.414-14G>A	4204	MECP2	Conflicting interpretations of pathogenicity	267608467	RCV000144109\|RCV000170272\|RCV002512556;	N	MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296915	153296915	NC_000023.10:g.153296915C>T	ClinGen:CA233148	CN517202 not provided;
NM_001110792.2(MECP2):c.414-18_414-15del	4204	MECP2	Benign	782156136	RCV002123982;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296916	153296919	153296915	-
NM_001110792.2(MECP2):c.414-16C>T	4204	MECP2	Likely benign	-1	RCV002601649;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296917	153296917	NC_000023.10:g.153296917G>A	-
NM_001110792.2(MECP2):c.414-17del	4204	MECP2	Benign/Likely benign	61753982	RCV000144110\|RCV000168682\|RCV000202549\|RCV002055862\|RCV002362776;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153296918	153296918	NC_000023.10:g.153296920del	ClinGen:CA212519	CN517202 not provided;
NM_001110792.2(MECP2):c.414-18_414-17insA	4204	MECP2	Likely benign	-1	RCV002575027;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296918	153296919	NC_000023.10:g.153296918_153296919insT	-
NM_001110792.2(MECP2):c.414-20C>G	4204	MECP2	Benign	368684221	RCV000225668\|RCV002057231;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296921	153296921	X:g.153296921G>C	ClinGen:CA10558624	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.414-20C>T	4204	MECP2	Likely benign	-1	RCV002957810;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153296921	153296921	NC_000023.10:g.153296921G>A	-
NM_001110792.2(MECP2):c.413+24C>A	4204	MECP2	Likely benign	267608462	RCV000144102\|RCV000170268\|RCV001080116\|RCV001800459;	N	MedGen:C3661900\|MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153297634	153297634	X:g.153297634G>T	ClinGen:CA199494	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NC_000023.10:g.(?_153297634)_(153298028_?)del	4204	MECP2	Pathogenic	-1	RCV000805925;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297634	153298028		-
NC_000023.10:g.(?_153297634)_(153298028_?)dup	4204	MECP2	Uncertain significance	-1	RCV001362834;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297634	153298028	-1	-
NM_001110792.2(MECP2):c.413+20A>G	4204	MECP2	Likely benign	-1	RCV003032156;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297638	153297638	NC_000023.10:g.153297638T>C	-
NM_001110792.2(MECP2):c.413+18C>G	4204	MECP2	Likely benign	267608461	RCV000144098\|RCV000170267\|RCV000605977\|RCV001800458\|RCV002514774;	N	MedGen:C3661900\|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496\|MedGen:CN169374\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297640	153297640	X:g.153297640G>C	ClinGen:CA199493	C1845336 300496 Autism, susceptibility to, X-linked 3;
NM_001110792.2(MECP2):c.413+17C>T	4204	MECP2	Likely benign	-1	RCV002628140;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297641	153297641	NC_000023.10:g.153297641G>A	-
NM_001110792.2(MECP2):c.413+15C>G	4204	MECP2	Benign	-1	RCV002676694;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297643	153297643	NC_000023.10:g.153297643G>C	-
NM_001110792.2(MECP2):c.413+13A>C	4204	MECP2	Likely benign	2148666303	RCV002215582;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297645	153297645	153297645	-
NM_001110792.2(MECP2):c.413+6_413+9del	4204	MECP2	Likely benign	267608459	RCV000144106\|RCV000170270\|RCV000614093\|RCV001800460\|RCV002512555;	N	MedGen:C3661900\|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496\|MedGen:CN169374\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297649	153297652	X:g.153297649_153297652del	ClinGen:CA199495	C1845336 300496 Autism, susceptibility to, X-linked 3;
NM_001110792.2(MECP2):c.413+5G>A	4204	MECP2	Uncertain significance	2148666320	RCV001825254\|RCV002034686;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778; MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260, Orphanet:1762\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297653	153297653	153297653	-
NM_001110792.2(MECP2):c.413A>G (p.Asn138Ser)	4204	MECP2	Uncertain significance	786205037	RCV000170271;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297658	153297658	NC_000023.10:g.153297658T>C	ClinGen:CA280064	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)	4204	MECP2	Benign	146107517	RCV000081201\|RCV000712283\|RCV000716805\|RCV001087820\|RCV002260608;	N	MedGen:CN169374\|MedGen:C3661900\|MedGen:C2711754\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153297660	153297660	X:g.153297660G>T	ClinGen:CA211309	CN169374 not specified;
NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe)	4204	MECP2	Pathogenic	61755763	RCV000133083\|RCV001383621;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297663	153297663	X:g.153297663C>A	ClinGen:CA270371,UniProtKB:P51608#VAR_010277	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.406T>G (p.Leu136Val)	4204	MECP2	Likely pathogenic	2148666355	RCV002006896;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297665	153297665	153297665	-
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)	4204	MECP2	Uncertain significance	267608388	RCV000133074\|RCV000715718\|RCV001800452\|RCV002514765;	N	MedGen:CN517202\|MedGen:C2711754\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297692	153297692	X:g.153297692G>A	ClinGen:CA294544	CN517202 not provided;
NM_001110792.2(MECP2):c.372A>G (p.Lys124=)	4204	MECP2	Likely benign	2065982926	RCV002071324;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297699	153297699	153297699	-
NM_001110792.2(MECP2):c.369G>A (p.Arg123=)	4204	MECP2	Likely benign	-1	RCV003016395;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297702	153297702		-
NM_001110792.2(MECP2):c.358C>T (p.Leu120Phe)	4204	MECP2	Uncertain significance	1557137721	RCV001036360;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297713	153297713	X:g.153297713G>A	-
NM_001110792.2(MECP2):c.358C>G (p.Leu120Val)	4204	MECP2	Uncertain significance	1557137721	RCV001915903;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297713	153297713	153297713	-
NM_001110792.2(MECP2):c.356A>G (p.Lys119Arg)	4204	MECP2	Uncertain significance	2148666479	RCV001906666;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297715	153297715	153297715	-
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	4204	MECP2	Pathogenic/Likely pathogenic	28934907	RCV000012585\|RCV000255874\|RCV000552837\|RCV001000318\|RCV001195924\|RCV002247329\|RCV002311513\|RCV003224092;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN169374\|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496\|MONDO:MONDO:0010235,MedGen:C079622	X	153297719	153297719	X:g.153297719G>A	ClinGen:CA256089,UniProtKB:P51608#VAR_010272,OMIM:300005.0008	CN517202 not provided;
NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter)	4204	MECP2	Pathogenic/Likely pathogenic	61754455	RCV000133062\|RCV001849958;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297724	153297724	X:g.153297724C>T	ClinGen:CA270340	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.343G>A (p.Gly115Ser)	4204	MECP2	Uncertain significance	2065984147	RCV001070837;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297728	153297728	X:g.153297728C>T	-
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg)	4204	MECP2	Pathogenic	61754453	RCV000133058\|RCV000170238\|RCV001857483;	N	MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830, Orphanet:72\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297733	153297733	NC_000023.10:g.153297733G>C	ClinGen:CA274626,UniProtKB:P51608#VAR_010276	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.331A>C (p.Thr111Pro)	4204	MECP2	Uncertain significance	2065984609	RCV001065758\|RCV001507069;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153297740	153297740	X:g.153297740T>G	-
NM_001110792.2(MECP2):c.312A>G (p.Gly104=)	4204	MECP2	Benign	140191561	RCV000192672\|RCV000645136\|RCV001523261\|RCV002433869\|RCV002472372;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153297759	153297759	X:g.153297759T>C	ClinGen:CA205646	CN169374 not specified;
NM_001110792.2(MECP2):c.311G>A (p.Gly104Glu)	4204	MECP2	Uncertain significance	2148666605	RCV001941309;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297760	153297760	153297760	-
NM_001110792.2(MECP2):c.308G>A (p.Arg103Gln)	4204	MECP2	Uncertain significance	782177397	RCV001297075;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297763	153297763	153297763	-
NM_001110792.2(MECP2):c.307C>T (p.Arg103Trp)	4204	MECP2	Uncertain significance	782320257	RCV001539474\|RCV001873817;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297764	153297764	153297764	-
NM_001110792.2(MECP2):c.290G>A (p.Arg97His)	4204	MECP2	Uncertain significance	782226571	RCV001047333;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297781	153297781	X:g.153297781C>T	-
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys)	4204	MECP2	Uncertain significance	1064797047	RCV000487257\|RCV001775123\|RCV002525978;	N	MedGen:CN517202\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297782	153297782	X:g.153297782G>A	ClinGen:CA16621248	CN517202 not provided;
NM_001110792.2(MECP2):c.286C>T (p.Arg96Trp)	4204	MECP2	Uncertain significance	1557137821	RCV000645117\|RCV001558139;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153297785	153297785	X:g.153297785G>A	ClinGen:CA415177265	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.283C>T (p.Gln95Ter)	4204	MECP2	Pathogenic	2148666695	RCV001939126;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297788	153297788	153297788	-
NM_001110792.2(MECP2):c.282A>G (p.Lys94=)	4204	MECP2	Uncertain significance	2148666701	RCV002033464;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297789	153297789	153297789	-
NM_001110792.2(MECP2):c.281A>G (p.Lys94Arg)	4204	MECP2	Benign/Likely benign	61754444	RCV000133040\|RCV000981151\|RCV001725999\|RCV003380473;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153297790	153297790	X:g.153297790T>C	ClinGen:CA170278	CN169374 not specified;
NM_001110792.2(MECP2):c.280A>T (p.Lys94Ter)	4204	MECP2	Pathogenic	1603310794	RCV000816083;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297791	153297791	X:g.153297791T>A	-
NM_001110792.2(MECP2):c.279C>G (p.Pro93=)	4204	MECP2	Likely benign	1557137825	RCV002155017;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297792	153297792	153297792	-
NM_001110792.2(MECP2):c.275C>T (p.Ser92Phe)	4204	MECP2	Uncertain significance	-1	RCV002304683\|RCV003438994;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153297796	153297796	153297796	-
NM_001110792.2(MECP2):c.273C>G (p.Ala91=)	4204	MECP2	Likely benign	-1	RCV003117112;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297798	153297798		-
NM_001110792.2(MECP2):c.261G>A (p.Pro87=)	4204	MECP2	Likely benign	61754442	RCV000133036\|RCV000645113\|RCV001800451;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153297810	153297810	X:g.153297810C>T	ClinGen:CA170275	CN169374 not specified;
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu)	4204	MECP2	Benign	267608440	RCV000133035\|RCV000195208\|RCV001414793\|RCV002515929;	N	MedGen:CN169374\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153297811	153297811	NC_000023.10:g.153297811G>A	ClinGen:CA170272	CN169374 not specified;
NM_001110792.2(MECP2):c.251C>T (p.Pro84Leu)	4204	MECP2	Likely benign	61754440	RCV000133032\|RCV001034292\|RCV001800450;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153297820	153297820	X:g.153297820G>A	ClinGen:CA170269	CN169374 not specified;
NM_001110792.2(MECP2):c.248C>G (p.Ala83Gly)	4204	MECP2	Uncertain significance	1557137874	RCV001361402;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297823	153297823	153297823	-
NM_001110792.2(MECP2):c.248C>A (p.Ala83Asp)	4204	MECP2	Likely benign	1557137874	RCV002109086;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297823	153297823	153297823	-
NM_001110792.2(MECP2):c.246C>T (p.Ser82=)	4204	MECP2	Benign/Likely benign	61754439	RCV000169926\|RCV000477494\|RCV000717918\|RCV002492475\|RCV003389395;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C2711754\|MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260, Orphanet:1762; MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496; MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055	X	153297825	153297825	X:g.153297825G>A	ClinGen:CA199306	CN169374 not specified;
NM_001110792.2(MECP2):c.245C>G (p.Ser82Cys)	4204	MECP2	Uncertain significance	2065987230	RCV001216969;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297826	153297826	X:g.153297826G>C	-
NM_001110792.2(MECP2):c.242G>T (p.Gly81Val)	4204	MECP2	Uncertain significance	1557137890	RCV001770566\|RCV002540260\|RCV003416423;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|	X	153297829	153297829	153297829	-
NM_001110792.2(MECP2):c.236G>T (p.Gly79Val)	4204	MECP2	Uncertain significance	150900180	RCV001196929\|RCV002559252;	N	MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297835	153297835	X:g.153297835C>A	-
NM_001110792.2(MECP2):c.231del (p.Glu78fs)	4204	MECP2	Pathogenic	2148666876	RCV001390003;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297840	153297840	153297839	-
NM_001110792.2(MECP2):c.230C>A (p.Ser77Ter)	4204	MECP2	Pathogenic	61754437	RCV001048131;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297841	153297841	X:g.153297841G>T	-
NM_001110792.2(MECP2):c.215G>A (p.Gly72Asp)	4204	MECP2	Likely pathogenic	2148666907	RCV001378002;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297856	153297856	153297856	-
NM_001110792.2(MECP2):c.214G>A (p.Gly72Ser)	4204	MECP2	Uncertain significance	-1	RCV003023622;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297857	153297857	NC_000023.10:g.153297857C>T	-
NM_001110792.2(MECP2):c.204C>T (p.Pro68=)	4204	MECP2	Benign	61754435	RCV000133027\|RCV000544803\|RCV001088114\|RCV001800449\|RCV002399509;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MeSH:D030342,MedGen:C0950123	X	153297867	153297867	X:g.153297867G>A	ClinGen:CA170266	CN169374 not specified;
NM_001110792.2(MECP2):c.192C>G (p.His64Gln)	4204	MECP2	Likely benign	781819534	RCV001480968\|RCV001576872;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153297879	153297879	153297879	-
NM_001110792.2(MECP2):c.191A>G (p.His64Arg)	4204	MECP2	Benign	61754433	RCV000133025\|RCV001520931\|RCV001689675\|RCV002472326;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153297880	153297880	X:g.153297880T>C	ClinGen:CA170263	CN169374 not specified;
NM_001110792.2(MECP2):c.189C>G (p.His63Gln)	4204	MECP2	Uncertain significance	267608432	RCV000133024\|RCV001857482;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297882	153297882	X:g.153297882G>C	ClinGen:CA170260	CN169374 not specified;
NM_001110792.2(MECP2):c.186C>T (p.Ala62=)	4204	MECP2	Likely benign	2065988537	RCV001477281;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297885	153297885	153297885	-
NM_001110792.2(MECP2):c.172G>A (p.Val58Met)	4204	MECP2	Benign/Likely benign	587783134	RCV000144806\|RCV002055865\|RCV002514780;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153297899	153297899	NC_000023.10:g.153297899C>T	ClinGen:CA294698	CN169374 not specified;
NM_001110792.2(MECP2):c.171C>T (p.Pro57=)	4204	MECP2	Benign/Likely benign	139477857	RCV000996060\|RCV001512326;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297900	153297900	X:g.153297900G>A	-
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs)	4204	MECP2	Likely pathogenic	267608428	RCV000132959\|RCV000170105;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153297915	153297916	X:g.153297915_153297916del	ClinGen:CA274543	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs)	4204	MECP2	Pathogenic/Likely pathogenic	267608424	RCV000132849\|RCV002515925;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297922	153297928	NC_000023.10:g.153297926_153297932del	ClinGen:CA270192
NM_001110792.2(MECP2):c.140_144del (p.Lys47fs)	4204	MECP2	Pathogenic	2148667088	RCV001874032;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297927	153297931	153297926	-
NM_001110792.2(MECP2):c.136_139del (p.Asp46fs)	4204	MECP2	Pathogenic	61754428	RCV000132828\|RCV001219819;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297932	153297935	X:g.153297932_153297935del	ClinGen:CA270175	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.139A>G (p.Lys47Glu)	4204	MECP2	Benign	-1	RCV003063909;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297932	153297932	NC_000023.10:g.153297932T>C	-
NM_001110792.2(MECP2):c.136G>T (p.Asp46Tyr)	4204	MECP2	Uncertain significance	-1	RCV003020611;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297935	153297935	NC_000023.10:g.153297935C>A	-
NM_001110792.2(MECP2):c.129G>A (p.Val43=)	4204	MECP2	Likely benign	1194365979	RCV001487746;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297942	153297942	153297942	-
NM_001110792.2(MECP2):c.118T>C (p.Phe40Leu)	4204	MECP2	Uncertain significance	1557137994	RCV001985303;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297953	153297953	153297953	-
NM_001110792.2(MECP2):c.114C>G (p.Leu38=)	4204	MECP2	Likely benign	1557138002	RCV002181433;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297957	153297957	153297957	-
NM_001110792.2(MECP2):c.112C>G (p.Leu38Val)	4204	MECP2	Uncertain significance	1603310890	RCV000795931;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297959	153297959	X:g.153297959G>C	-
NM_001110792.2(MECP2):c.108A>G (p.Lys36=)	4204	MECP2	Benign	782202329	RCV000780399\|RCV001510469\|RCV001619839;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153297963	153297963	NC_000023.10:g.153297963T>C	-
NM_001110792.2(MECP2):c.107A>G (p.Lys36Arg)	4204	MECP2	Benign	782344115	RCV000807863;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297964	153297964	X:g.153297964T>C	-
NM_001110792.2(MECP2):c.99C>T (p.Leu33=)	4204	MECP2	Likely benign	-1	RCV002843718;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297972	153297972		-
NM_001110792.2(MECP2):c.96C>A (p.Gly32=)	4204	MECP2	Likely benign	1353764286	RCV002079373;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297975	153297975	153297975	-
NM_001110792.2(MECP2):c.86_94del (p.Asp29_Gln31del)	4204	MECP2	Uncertain significance	-1	RCV003015066;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297977	153297985	NC_000023.10:g.153297982_153297990del	-
NM_001110792.2(MECP2):c.93G>C (p.Gln31His)	4204	MECP2	Uncertain significance	2148667234	RCV001883929;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297978	153297978	153297978	-
NM_001110792.2(MECP2):c.92A>C (p.Gln31Pro)	4204	MECP2	Uncertain significance	2148667246	RCV001872798;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297979	153297979	153297979	-
NM_001110792.2(MECP2):c.91C>G (p.Gln31Glu)	4204	MECP2	Uncertain significance	61754425	RCV001912577;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297980	153297980	153297980	-
NM_001110792.2(MECP2):c.90C>G (p.Leu30=)	4204	MECP2	Benign	372500343	RCV000724858\|RCV001499199\|RCV003235098;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153297981	153297981	X:g.153297981G>C	ClinGen:CA243345	CN169374 not specified;
NM_001110792.2(MECP2):c.88C>T (p.Leu30Phe)	4204	MECP2	Uncertain significance	2065991510	RCV001340158\|RCV001806131;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153297983	153297983	153297983	-
NM_001110792.2(MECP2):c.87C>T (p.Asp29=)	4204	MECP2	Likely benign	1557138037	RCV001441029;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297984	153297984	153297984	-
NM_001110792.2(MECP2):c.81C>T (p.Asp27=)	4204	MECP2	Benign/Likely benign	782168400	RCV001510392\|RCV002317415;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153297990	153297990	NC_000023.10:g.153297990G>A	-
NM_001110792.2(MECP2):c.80A>C (p.Asp27Ala)	4204	MECP2	Uncertain significance	1557138051	RCV001317181;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297991	153297991	153297991	-
NM_001110792.2(MECP2):c.75A>G (p.Ser25=)	4204	MECP2	Benign	782561844	RCV001514296;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297996	153297996	153297996	-
NM_001110792.2(MECP2):c.74C>G (p.Ser25Ter)	4204	MECP2	Pathogenic	2148667313	RCV001384305;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297997	153297997	153297997	-
NM_001110792.2(MECP2):c.73T>G (p.Ser25Ala)	4204	MECP2	Uncertain significance	2065992065	RCV001339324;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153297998	153297998	153297998	-
NM_001110792.2(MECP2):c.68A>G (p.Glu23Gly)	4204	MECP2	Uncertain significance	782735472	RCV002046520\|RCV003438912;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153298003	153298003	153298003	-
NM_001110792.2(MECP2):c.63-2A>G	4204	MECP2	Pathogenic	267608412	RCV000144093\|RCV000170180\|RCV002514773;	N	MedGen:C3661900\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153298010	153298010	NC_000023.10:g.153298010T>C	ClinGen:CA233142	CN517202 not provided;
NM_001110792.2(MECP2):c.63-8C>T	4204	MECP2	Likely benign	267608410	RCV002155256;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153298016	153298016	153298016	-
NC_000023.10:g.(?_153357622)_(153363142_?)del	4204	MECP2	Pathogenic	-1	RCV001389411;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153357622	153363142	-1	-
NC_000023.10:g.(?_153357622)_(153363122_?)dup	4204	MECP2	Uncertain significance	-1	RCV001942931;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153357622	153363122	-1	-
NM_001110792.2(MECP2):c.62+5429C>T	4204	MECP2	Likely benign	1557149879	RCV000944132;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153357633	153357633	X:g.153357633G>A	-
NM_004992.4(MECP2):c.12G>C (p.Gly4=)	4204	MECP2	Likely benign	2148763145	RCV002219976;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153357656	153357656	153357656	-
NC_000023.10:g.(?_153363041)_(153363142_?)del	4204	MECP2	Pathogenic	-1	RCV000708161;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363041	153363142		-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NM_001110792.2(MECP2):c.62+18G>A	4204	MECP2	Uncertain significance	-1	RCV002597715;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363043	153363043	NC_000023.10:g.153363043C>T	-
NM_001110792.2(MECP2):c.62+15C>T	4204	MECP2	Likely benign	782109379	RCV002073453;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363046	153363046	153363046	-
NM_001110792.2(MECP2):c.62+11C>T	4204	MECP2	Likely benign	1557150838	RCV002076606;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363050	153363050	153363050	-
NM_001110792.2(MECP2):c.62+10A>T	4204	MECP2	Likely benign	1557150839	RCV002154599;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363051	153363051	153363051	-
NM_001110792.2(MECP2):c.62+8G>A	4204	MECP2	Likely benign	-1	RCV002991458;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363053	153363053	NC_000023.10:g.153363053C>T	-
NM_001110792.2(MECP2):c.62+3G>C	4204	MECP2	Uncertain significance	2148770726	RCV001984368;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363058	153363058	153363058	-
NM_001110792.2(MECP2):c.62+1G>A	4204	MECP2	Pathogenic	786205048	RCV000170294\|RCV000558865;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363060	153363060	X:g.153363060C>T	ClinGen:CA274678	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs)	4204	MECP2	Pathogenic	1557150846	RCV000464233\|RCV001591077;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153363065	153363066	NC_000023.10:g.153363066_153363082dup	ClinGen:CA16616448	C0162635 105830 Angelman syndrome;
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs)	4204	MECP2	Pathogenic	786205042	RCV000170288\|RCV001245569;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363066	153363076	NC_000023.10:g.153363075_153363085del	ClinGen:CA274672,OMIM:300005.0028
NM_001110792.2(MECP2):c.56A>G (p.Glu19Gly)	4204	MECP2	Uncertain significance	1557150848	RCV001913269;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363067	153363067	153363067	-
NM_001110792.2(MECP2):c.55G>A (p.Glu19Lys)	4204	MECP2	Conflicting interpretations of pathogenicity	782789719	RCV001587274\|RCV001244819;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363068	153363068	X:g.153363068C>T	-
NM_001110792.2(MECP2):c.44_49dup (p.Gly15_Gly16dup)	4204	MECP2	Conflicting interpretations of pathogenicity	1064795312	RCV001297055\|RCV001704638;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153363073	153363074	NC_000023.10:g.153363075_153363080dup	ClinGen:CA16621249	CN169374 not specified;
NM_001110792.2(MECP2):c.47_49dup (p.Gly16dup)	4204	MECP2	Likely benign	1569549906	RCV001529207\|RCV001873740;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363073	153363074	153363073	-
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup)	4204	MECP2	Benign	587783744	RCV000168678\|RCV000548811\|RCV001705949\|RCV002312644\|RCV002472367;	N	MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153363075	153363076	X:g.153363075_153363076insCCT	ClinGen:CA198819	CN169374 not specified;
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup)	4204	MECP2	Benign	587783744	RCV000170286\|RCV000486852\|RCV001034236\|RCV001704232;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:CN517202	X	153363075	153363076	X:g.153363075_153363076insCCTCCT	ClinGen:CA274670	CN169374 not specified;
NM_001110792.2(MECP2):c.33AGG[4] (p.Gly16del)	4204	MECP2	Benign/Likely benign	587783744	RCV001522067\|RCV001704833\|RCV002331090;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	153363076	153363078	X:g.153363076_153363078del	ClinGen:CA10558690	CN169374 not specified;
NM_001110792.2(MECP2):c.45A>C (p.Gly15=)	4204	MECP2	Likely benign	1369488698	RCV001393403;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363078	153363078	153363078	-
NM_001110792.2(MECP2):c.43G>A (p.Gly15Arg)	4204	MECP2	Uncertain significance	2148770843	RCV001992132;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363080	153363080	153363080	-
NM_001110792.2(MECP2):c.42A>C (p.Gly14=)	4204	MECP2	Uncertain significance	-1	RCV002572166;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363081	153363081		-
NM_001110792.2(MECP2):c.40G>A (p.Gly14Arg)	4204	MECP2	Uncertain significance	1392399136	RCV001889792;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363083	153363083	153363083	-
NM_001110792.2(MECP2):c.37G>C (p.Gly13Arg)	4204	MECP2	Uncertain significance	-1	RCV002876994;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363086	153363086	NC_000023.10:g.153363086C>G	-
NM_001110792.2(MECP2):c.29G>C (p.Ser10Thr)	4204	MECP2	Uncertain significance	2148770895	RCV002028145;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363094	153363094	153363094	-
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)	4204	MECP2	Benign	398123566	RCV000079472\|RCV000170281\|RCV001081153\|RCV002260607\|RCV002415577;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MeSH:D030342,MedGen:C0950123	X	153363099	153363100	X:g.153363099_153363100insGCG	ClinGen:CA199503	CN517202 not provided;
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)	4204	MECP2	Benign	398123566	RCV000144801\|RCV000170278\|RCV000645135\|RCV000714629\|RCV001198685\|RCV002408732\|RCV003227687;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496\|MeSH:D030342,MedGen:C0950123\|MONDO	X	153363099	153363100	NC_000023.10:g.153363102GGC[8]	ClinGen:CA199501
NM_001110792.2(MECP2):c.6CGC[9] (p.Ala6_Ala8dup)	4204	MECP2	Conflicting interpretations of pathogenicity	398123566	RCV000170276\|RCV001239514\|RCV002390402;	N	MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123	X	153363099	153363100	X:g.153363099_153363100insGCGGCGGCG	ClinGen:CA199497	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del)	4204	MECP2	Uncertain significance	398123566	RCV000144800\|RCV000170277\|RCV000701456\|RCV002260623;	N	MedGen:CN169374\|MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153363100	153363105	NC_000023.10:g.153363102GGC[4]	ClinGen:CA199499	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)	4204	MECP2	Benign	398123566	RCV000173210\|RCV000678239\|RCV000807467\|RCV002472368;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153363100	153363108	NC_000023.10:g.153363102GGC[3]	ClinGen:CA238671	CN517202 not provided;
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del)	4204	MECP2	Benign/Likely benign	398123566	RCV001712737\|RCV002067029\|RCV002313582\|RCV002493275;	N	MedGen:C3661900\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496; MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370; MONDO:MONDO:0010283,MedGen:C1846	X	153363100	153363102	NC_000023.10:g.153363102GGC[5]	-
NM_001110792.2(MECP2):c.23del (p.Ala8fs)	4204	MECP2	Pathogenic	1603341359	RCV000822577;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363100	153363100	X:g.153363100_153363100del	-
NM_001110792.2(MECP2):c.23C>A (p.Ala8Glu)	4204	MECP2	Uncertain significance	2066906180	RCV001245089;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363100	153363100	X:g.153363100G>T	-
NM_001110792.2(MECP2):c.15C>T (p.Ala5=)	4204	MECP2	Likely benign	-1	RCV002937731;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363108	153363108		-
NM_001110792.2(MECP2):c.13G>A (p.Ala5Thr)	4204	MECP2	Uncertain significance	1240023402	RCV000586039\|RCV001860137;	N	MedGen:CN517202\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363110	153363110	NC_000023.10:g.153363110C>T	ClinGen:CA415301590	CN517202 not provided;
NM_001110792.2(MECP2):c.11C>T (p.Ala4Val)	4204	MECP2	Uncertain significance	1182354883	RCV001923949;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363112	153363112	153363112	-
NM_001110792.2(MECP2):c.10G>A (p.Ala4Thr)	4204	MECP2	Uncertain significance	781875210	RCV000801086;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363113	153363113	X:g.153363113C>T	-
NM_001110792.2(MECP2):c.6C>T (p.Ala2=)	4204	MECP2	Uncertain significance	-1	RCV002877485;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363117	153363117		-
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val)	4204	MECP2	Pathogenic/Likely pathogenic	179363901	RCV000012619\|RCV001851806;	N	MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370	X	153363118	153363118	X:g.153363118G>A	ClinGen:CA256095,OMIM:300005.0037	C0035372 312750 Rett syndrome;
NM_001110792.2(MECP2):c.-31AG[2]	4204	MECP2	Benign	587783128	RCV000144799\|RCV000170283\|RCV001522613\|RCV002260622;	N	MedGen:CN169374\|MONDO:MONDO:0010235,MedGen:C0796222,OMIM:300055, Orphanet:3077\|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750, Orphanet:3095, Orphanet:778	X	153363148	153363149	NC_000023.10:g.153363149TC[2]	ClinGen:CA199505	C1968550 300055 Mental retardation, X-linked, syndromic 13;
NC_000023.10:g.(?_153170600)_(153409869_?)dup	-1	OPN1LW;RENBP;TMEM187;ARHGAP4;AVPR2;HCFC1;IRAK1;MEC	Uncertain significance	-1	RCV000708104\|RCV003117501;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MedGen:C3661900	X	153170600	153409869		-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;
NC_000023.10:g.(?_152954010)_(153599633_?)dup	-1	subset of 23 genes: ABCD1:AVPR2:BCAP31:FLNA:L1CAM:	Conflicting interpretations of pathogenicity	-1	RCV000707841\|RCV003117500;	N	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673, Orphanet:209370\|MONDO:MONDO:0010305,MedGen:C1845862,OMIM:300352, Orphanet:52503	X	152954010	153599633		-	C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly;

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