Total 815 pathogenic variants reported for Rett syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) SNV
Germline		 ChrX:18581942 Likely pathogenic Developmental and epileptic encephalopathy, 2
Atypical Rett syndrome		 Criteria Provided
Single Submitter
 CA121515 rs_122460157

3 SubmittersRCV000012251RCV000133370
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) SNV
Germline		 ChrX:18584324 Pathogenic Developmental and epileptic encephalopathy, 2
Atypical Rett syndrome		 No Assertion Criteria Provided
 CA121517 rs_61749700

2 SubmittersRCV000012252RCV000133372
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) SNV
Germline		 ChrX:18628374 Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
Atypical Rett syndrome
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like		 Criteria Provided
Conflicting Classifications
 CA121519 rs_122460158

4 SubmittersRCV000012255RCV000133352RCV003764559
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) SNV
Germline		 ChrX:18564496 Pathogenic Developmental and epileptic encephalopathy, 2
Atypical Rett syndrome
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
CDKL5 disorder
Condition: not provided		 Reviewed By Expert Panel
 CA121521 rs_122460159

6 SubmittersRCV000012257RCV000133317RCV000699210RCV001507073RCV001564884
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) SNV
Germline		 ChrX:18575423 Pathogenic Developmental and epileptic encephalopathy, 2
Condition: not provided
Rett syndrome
CDKL5 disorder
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2		 Reviewed By Expert Panel
 CA121523 rs_62641235

6 SubmittersRCV000012258RCV000080068RCV000169913RCV001507029RCV001385703
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) SNV
Germline		 ChrX:154031431 Pathogenic Rett syndrome, zappella variant
Condition: not provided
Rett syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
Angelman syndrome
Severe neonatal-onset encephalopathy with microcephaly
not specified
Inborn genetic diseases
Neurodevelopmental delay
Intellectual disability
Syndromic X-linked intellectual disability Lubs type		 Reviewed By Expert Panel
 CA211250 rs_28934904

43 SubmittersRCV000012578RCV000081202RCV000030666RCV000170107RCV000169934RCV000460141RCV000445570RCV000624907RCV002273925RCV001257757RCV003984804
NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser) SNV
Germline		 ChrX:154031364 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA256087 rs_28934905

3 SubmittersRCV000012579
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) SNV
Germline		 ChrX:154031355 Pathogenic/Likely pathogenic Rett syndrome
Condition: not provided
Severe neonatal-onset encephalopathy with microcephaly
Autism, susceptibility to, X-linked 3
Angelman syndrome
Inborn genetic diseases
Syndromic X-linked intellectual disability Lubs type
Autism, susceptibility to, X-linked 3
X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Abnormality of the nervous system
X-linked intellectual disability-psychosis-macroorchidism syndrome
Neurodevelopmental delay
Syndromic X-linked intellectual disability Lubs type
MECP2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA211252 rs_28934906

49 SubmittersRCV000012580RCV000133129RCV000170110RCV000169935RCV000170109RCV000623451RCV000763199RCV001813975RCV002247328RCV002273926RCV003984805RCV004540995
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) SNV
Germline		 ChrX:154032268 Pathogenic/Likely pathogenic Rett syndrome
Condition: not provided
Severe neonatal-onset encephalopathy with microcephaly
not specified
Autism, susceptibility to, X-linked 3
X-linked intellectual disability-psychosis-macroorchidism syndrome
Inborn genetic diseases
Syndromic X-linked intellectual disability Lubs type
Autism, susceptibility to, X-linked 3
X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256089 rs_28934907

28 SubmittersRCV000012585RCV000255874RCV000552837RCV001000318RCV001195924RCV002247329RCV002311513RCV003224092
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) SNV
Germline		 ChrX:154031020 Pathogenic Rett syndrome
Condition: not provided
Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Syndromic X-linked intellectual disability Lubs type
Autism, susceptibility to, X-linked 3
X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Inborn genetic diseases
Autism, susceptibility to, X-linked 3
Syndromic X-linked intellectual disability Lubs type
MECP2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA172577 rs_61750240

43 SubmittersRCV000012586RCV000081212RCV000146359RCV000169940RCV000515283RCV000624100RCV001196907RCV001705588RCV004540996
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter) SNV
Germline		 ChrX:154030648 Pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome		 Criteria Provided
Single Submitter
 CA121697 rs_63094662

2 SubmittersRCV000012588RCV000146349
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) SNV
Germline		 ChrX:154030948 Pathogenic Rett syndrome
Autism, susceptibility to, X-linked 3
Condition: not provided
Severe neonatal-onset encephalopathy with microcephaly
Syndromic X-linked intellectual disability Lubs type
Autism, susceptibility to, X-linked 3
X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Inborn genetic diseases
See cases
MECP2-related disorder
Syndromic X-linked intellectual disability Lubs type		 Reviewed By Expert Panel
 CA121700 rs_61751362

38 SubmittersRCV000012590RCV000012591RCV000081215RCV000474366RCV000515413RCV000624805RCV001420261RCV004545726RCV003984806
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) SNV
Germline		 ChrX:154031409 Pathogenic/Likely pathogenic Rett syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
8 conditions
Condition: not provided
Severe neonatal-onset encephalopathy with microcephaly
Syndromic X-linked intellectual disability Lubs type
Autism, susceptibility to, X-linked 3
X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Autism, susceptibility to, X-linked 3
Neurodevelopmental disorder
Atypical behavior
Intellectual disability
Inborn genetic diseases
Syndromic X-linked intellectual disability Lubs type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121703 rs_28934908

27 SubmittersRCV000020628RCV000012596RCV000414791RCV000224266RCV000544176RCV001249626RCV001197458RCV001374894RCV001004016RCV001257756RCV002326676RCV002466399
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) SNV
Germline		 ChrX:154030912 Pathogenic Rett syndrome
Condition: not provided
Angelman syndrome
Intellectual disability
Severe neonatal-onset encephalopathy with microcephaly
Autism, susceptibility to, X-linked 3
Neurodevelopmental delay
See cases
Inborn genetic diseases
Syndromic X-linked intellectual disability Lubs type
Autism, susceptibility to, X-linked 3
X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
MECP2-related disorder		 Reviewed By Expert Panel
 CA212529 rs_28935468

46 SubmittersRCV000012597RCV000081218RCV000202468RCV000224156RCV000466020RCV001841244RCV002273927RCV002287332RCV002444428RCV003224093RCV004532325
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) SNV
Germline		 ChrX:154031326 Pathogenic Rett syndrome
Condition: not provided
Intellectual disability
Global developmental delay
Developmental regression
Severe neonatal-onset encephalopathy with microcephaly
Inborn genetic diseases
Syndromic X-linked intellectual disability Lubs type
MECP2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256092 rs_61748421

44 SubmittersRCV000012601RCV000133143RCV000224869RCV000626872RCV000545521RCV002311514RCV003984807RCV004532326
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) SNV
Germline		 ChrX:154031065 Pathogenic/Likely pathogenic Rett syndrome
Condition: not provided
X-linked intellectual disability-psychosis-macroorchidism syndrome
Syndromic X-linked intellectual disability Lubs type
Autism, susceptibility to, X-linked 3
X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Severe neonatal-onset encephalopathy with microcephaly
Abnormality of the nervous system
Neurodevelopmental delay
Syndromic X-linked intellectual disability Lubs type
Inborn genetic diseases
MECP2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA212520 rs_61749721

40 SubmittersRCV000012602RCV000081209RCV000169938RCV000515183RCV000553858RCV001813976RCV002273928RCV003989103RCV002313706RCV004545727
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) SNV
Germline		 ChrX:154031405 Pathogenic Atypical Rett syndrome
Angelman syndrome
Rett syndrome
Condition: not provided
Inborn genetic diseases
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121710 rs_61748396

14 SubmittersRCV000012606RCV000133106RCV000170108RCV000729616RCV000623504RCV001049210
NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter) SNV
Germline		 ChrX:154030465 Pathogenic Rett syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA232941 rs_104894864

3 SubmittersRCV000012607RCV000132997
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) SNV
Germline		 ChrX:154032286 Pathogenic Rett syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA198822 rs_28935168

7 SubmittersRCV000012608RCV000498874
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) SNV
Germline		 ChrX:154031154 Likely pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome		 Criteria Provided
Single Submitter
 CA121713 rs_61749715

3 SubmittersRCV000012615RCV000133194
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) SNV
Germline		 ChrX:154030864 Pathogenic/Likely pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121715 rs_61751449

5 SubmittersRCV000012617RCV000416315RCV001090501
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) SNV
Germline		 ChrX:154031374 Likely pathogenic Rett syndrome, zappella variant
X-linked intellectual disability-psychosis-macroorchidism syndrome
Condition: not provided
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Autism, susceptibility to, X-linked 3
Syndromic X-linked intellectual disability Lubs type
Rett syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Reviewed By Expert Panel
 CA121717 rs_179363900

11 SubmittersRCV000012618RCV000133115RCV000492792RCV000991003RCV001246099RCV000763200
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) SNV
Germline		 ChrX:154097661 Pathogenic/Likely pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256095 rs_179363901

5 SubmittersRCV000012619RCV001851806
NM_005249.5(FOXG1):c.765G>A (p.Trp255Ter) SNV
Germline		 Chr14:28768044 Pathogenic Rett syndrome, congenital variant
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123550 rs_121913678

4 SubmittersRCV000014881RCV004558249
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter) SNV
Germline		 Chr14:28767903 Pathogenic Rett syndrome, congenital variant
Condition: not provided
Inborn genetic diseases
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123552 rs_267606826

6 SubmittersRCV000014883RCV000760384RCV002362583RCV004558250
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) SNV
Germline		 Chr14:28767922 Likely pathogenic Rett syndrome, congenital variant
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123554 rs_267606828

4 SubmittersRCV000014884RCV004558251
NM_005249.5(FOXG1):c.924G>A (p.Trp308Ter) SNV
Germline		 Chr14:28768203 Pathogenic Rett syndrome, congenital variant
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123555 rs_267606827

4 SubmittersRCV000014885RCV004558252
NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter) SNV
Germline		 Chr14:28768479 Pathogenic Rett syndrome, congenital variant
Condition: not provided
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123557 rs_138747073

5 SubmittersRCV000014886RCV003441718RCV004558253
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter) SNV
Germline		 ChrX:154031254 Pathogenic/Likely pathogenic Rett syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA260436 rs_193922679

3 SubmittersRCV000030165
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) SNV
Germline		 ChrX:154030930 Conflicting classifications of pathogenicity Rett syndrome
Autism, susceptibility to, X-linked 3
Inborn genetic diseases
Syndromic X-linked intellectual disability Lubs type		 Criteria Provided
Conflicting Classifications
 CA170394 rs_61751370

6 SubmittersRCV000030166RCV000133270RCV002371791RCV002274901
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) SNV
Germline		 ChrX:154030919 Likely pathogenic Rett syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome		 Criteria Provided
Single Submitter
 CA170403 rs_61751439

3 SubmittersRCV000030167RCV000133285
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) SNV
Germline		 ChrX:154031360 Pathogenic Condition: not provided
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA202769 rs_61748408

10 SubmittersRCV000081204RCV000169946RCV000815972
NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter) SNV
Germline		 ChrX:154031217 Pathogenic Rett syndrome
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA202772 rs_61749724

4 SubmittersRCV000169936RCV000623044RCV000790737
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter) SNV
Germline		 ChrX:154031098 Pathogenic Rett syndrome
Condition: not provided
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA202766 rs_61749747

6 SubmittersRCV000168689RCV000178228RCV001854431
NM_001110792.2(MECP2):c.*1368C>A SNV
Germline		 ChrX:154028999 Conflicting classifications of pathogenicity Autism, susceptibility to, X-linked 3
Condition: not provided
Rett syndrome		 Criteria Provided
Conflicting Classifications
 CA170111 rs_267608355

4 SubmittersRCV000132776RCV003133147RCV003380423
NM_001110792.2(MECP2):c.1097G>T (p.Arg366Leu) SNV
Germline		 ChrX:154030767 Conflicting classifications of pathogenicity not specified
Severe neonatal-onset encephalopathy with microcephaly
MECP2-related disorder
Rett syndrome		 Criteria Provided
Conflicting Classifications
 CA170157 rs_61748387

4 SubmittersRCV000132841RCV001465694RCV004532589RCV003380457
NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter) SNV
Germline		 ChrX:154030749 Pathogenic Rett syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA270188 rs_61752372

3 SubmittersRCV000132847
NM_001110792.2(MECP2):c.1123A>T (p.Lys375Ter) SNV
Germline		 ChrX:154030741 Pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270193 rs_61752375

2 SubmittersRCV000132851
NM_001110792.2(MECP2):c.1154C>G (p.Ser385Ter) SNV
Germline		 ChrX:154030710 Pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA232891 rs_267608569

4 SubmittersRCV000132859RCV000193072
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu) SNV
Germline		 ChrX:154030650 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Severe neonatal-onset encephalopathy with microcephaly
Rett syndrome		 Criteria Provided
Conflicting Classifications
 CA232923 rs_267608402

4 SubmittersRCV000132944RCV000622858RCV001849957RCV004527345
NM_001110792.2(MECP2):c.1225G>T (p.Glu409Ter) SNV
Germline		 ChrX:154030639 Pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270260 rs_56268439

2 SubmittersRCV000132951
NM_001110792.2(MECP2):c.1238G>A (p.Ser413Asn) SNV
Germline		 ChrX:154030626 Conflicting classifications of pathogenicity not specified
Severe neonatal-onset encephalopathy with microcephaly
Rett syndrome		 Criteria Provided
Conflicting Classifications
 CA170203 rs_62707562

3 SubmittersRCV000132961RCV002055850RCV003380461
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) SNV
Germline		 ChrX:154030612 Pathogenic Condition: not provided
X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199472 rs_61753965

5 SubmittersRCV000132967RCV000170106RCV000169933RCV001057731
NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val) SNV
Germline		 ChrX:154030488 Conflicting classifications of pathogenicity Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Conflicting Classifications
 CA270277 rs_61753978

3 SubmittersRCV000132994RCV002514764
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter) SNV
Germline		 ChrX:154030471 Pathogenic Rett syndrome
Condition: not provided
Intellectual disability		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270280 rs_61753979

5 SubmittersRCV000132995RCV000599411RCV001255377
NM_001110792.2(MECP2):c.1495T>C (p.Ter499Arg) SNV
Germline		 ChrX:154030369 Likely pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA232948 rs_267608337

3 SubmittersRCV000133018RCV003314564
NM_001110792.2(MECP2):c.1496G>T (p.Ter499Leu) SNV
Germline		 ChrX:154030368 Likely pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Single Submitter
 CA232951 rs_267608399

2 SubmittersRCV000133019RCV004527357
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys) SNV
Germline		 ChrX:154030367 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270292 rs_267608642

2 SubmittersRCV000133020
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp) SNV
Germline		 ChrX:154030367 Likely pathogenic not specified
Severe neonatal-onset encephalopathy with microcephaly
Rett syndrome		 Reviewed By Expert Panel
 CA170257 rs_267608642

4 SubmittersRCV000133021RCV001379701RCV002472325
NM_001110792.2(MECP2):c.182C>A (p.Ser61Ter) SNV
Germline		 ChrX:154032438 Pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270295 rs_61754432

2 SubmittersRCV000133022
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter) SNV
Germline		 ChrX:154032438 Pathogenic Condition: not provided
Rett syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA232954 rs_61754432

4 SubmittersRCV000133023RCV000192902RCV002243797
NM_001110792.2(MECP2):c.189C>G (p.His63Gln) SNV
Germline		 ChrX:154032431 Conflicting classifications of pathogenicity not specified
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Conflicting Classifications
 CA170260 rs_267608432

3 SubmittersRCV000133024RCV003483516RCV001857482
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter) SNV
Germline		 ChrX:154032390 Pathogenic/Likely pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA232957 rs_61754437

3 SubmittersRCV000133029RCV000193745
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) SNV
Germline		 ChrX:154032381 Pathogenic/Likely pathogenic Rett syndrome
Abnormality of the nervous system		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270298 rs_267608438

4 SubmittersRCV000133031RCV001814066
NM_001110792.2(MECP2):c.310G>T (p.Gly104Ter) SNV
Germline		 ChrX:154032310 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270309 rs_267608445

2 SubmittersRCV000133043
NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr) SNV
Germline		 ChrX:154032295 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270316 rs_61754448

2 SubmittersRCV000133048
NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter) SNV
Germline		 ChrX:154032556 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270320 rs_61754421

2 SubmittersRCV000133050
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) SNV
Germline		 ChrX:154032283 Pathogenic Rett syndrome Reviewed By Expert Panel
 CA270328 rs_61754452

4 SubmittersRCV000133056
NM_001110792.2(MECP2):c.338C>A (p.Pro113His) SNV
Germline		 ChrX:154032282 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270330 rs_61754453

2 SubmittersRCV000133057
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) SNV
Germline		 ChrX:154032282 Pathogenic Angelman syndrome
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Reviewed By Expert Panel
 CA274626 rs_61754453

5 SubmittersRCV000133058RCV000170238RCV001857483
NM_001110792.2(MECP2):c.338C>T (p.Pro113Leu) SNV
Germline		 ChrX:154032282 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270332 rs_61754453

2 SubmittersRCV000133059
NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter) SNV
Germline		 ChrX:154032273 Pathogenic/Likely pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270340 rs_61754455

3 SubmittersRCV000133062RCV001849958
NM_001110792.2(MECP2):c.352C>G (p.Arg118Gly) SNV
Germline		 ChrX:154032268 Likely pathogenic Rett syndrome
MECP2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270345 rs_28934907

3 SubmittersRCV000133065RCV004532600
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) SNV
Germline		 ChrX:154032267 Conflicting classifications of pathogenicity Rett syndrome
Condition: not provided
X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome
Syndromic X-linked intellectual disability Lubs type		 Criteria Provided
Conflicting Classifications
 CA270348 rs_61754457

6 SubmittersRCV000133067RCV001542086RCV003333738RCV003989324
NM_001110792.2(MECP2):c.353G>T (p.Arg118Leu) SNV
Germline		 ChrX:154032267 Pathogenic/Likely pathogenic Rett syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270350 rs_61754457

3 SubmittersRCV000133068RCV001843481
NM_001110792.2(MECP2):c.359T>A (p.Leu120His) SNV
Germline		 ChrX:154032261 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270353 rs_61754458

2 SubmittersRCV000133069
NM_001110792.2(MECP2):c.367A>G (p.Arg123Gly) SNV
Germline		 ChrX:154032253 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270357 rs_61754459

2 SubmittersRCV000133071
NM_001110792.2(MECP2):c.370A>T (p.Lys124Ter) SNV
Germline		 ChrX:154032250 Pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Single Submitter
 CA232962 rs_267608398

2 SubmittersRCV000133072RCV004527359
NM_001110792.2(MECP2):c.398A>G (p.Asp133Gly) SNV
Germline		 ChrX:154032222 Likely pathogenic not specified
Rett syndrome		 Criteria Provided
Single Submitter
 CA170287 rs_61755762

2 SubmittersRCV000133078RCV003990984
NM_001110792.2(MECP2):c.400G>A (p.Val134Met) SNV
Germline		 ChrX:154032220 Pathogenic Rett syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA270366 rs_267608455

4 SubmittersRCV000133079RCV000254852
NM_001110792.2(MECP2):c.408G>C (p.Leu136Phe) SNV
Germline		 ChrX:154032212 Pathogenic Rett syndrome Reviewed By Expert Panel
 CA270369 rs_61755763

3 SubmittersRCV000133082
NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe) SNV
Germline		 ChrX:154032212 Pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Reviewed By Expert Panel
 CA270371 rs_61755763

4 SubmittersRCV000133083RCV001383621
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu) SNV
Germline		 ChrX:154031448 Pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Reviewed By Expert Panel
 CA270373 rs_267608387

5 SubmittersRCV000133085RCV000531543
NM_001110792.2(MECP2):c.418C>T (p.Gln140Ter) SNV
Germline		 ChrX:154031446 Pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270376 rs_267608469

3 SubmittersRCV000133086RCV000698528
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro) SNV
Germline		 ChrX:154031445 Pathogenic/Likely pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270379 rs_61748383

4 SubmittersRCV000133087RCV003522931RCV002362775
NM_001110792.2(MECP2):c.422G>T (p.Gly141Val) SNV
Germline		 ChrX:154031442 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270381 rs_61748384

2 SubmittersRCV000133088
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) SNV
Germline		 ChrX:154031436 Pathogenic/Likely pathogenic Rett syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270384 rs_267608470

3 SubmittersRCV000133089RCV003231161
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly) SNV
Germline		 ChrX:154031431 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270387 rs_28934904

2 SubmittersRCV000133091
NM_001110792.2(MECP2):c.434G>A (p.Arg145His) SNV
Germline		 ChrX:154031430 Pathogenic Condition: not provided
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Reviewed By Expert Panel
 CA274538 rs_61748389

5 SubmittersRCV000133092RCV000169945RCV002514766
NM_001110792.2(MECP2):c.434G>T (p.Arg145Leu) SNV
Germline		 ChrX:154031430 Pathogenic Rett syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA270390 rs_61748389

4 SubmittersRCV000133093RCV001565841
NM_001110792.2(MECP2):c.436T>C (p.Ser146Pro) SNV
Germline		 ChrX:154031428 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270393 rs_267608471

2 SubmittersRCV000133094
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) SNV
Germline		 ChrX:154031427 Pathogenic/Likely pathogenic Rett syndrome
Condition: not provided
Severe neonatal-onset encephalopathy with microcephaly
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270396 rs_61748390

15 SubmittersRCV000133095RCV000375578RCV000698431RCV002371979
NM_001110792.2(MECP2):c.437C>T (p.Ser146Phe) SNV
Germline		 ChrX:154031427 Pathogenic Rett syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA270398 rs_61748390

4 SubmittersRCV000133096RCV000255743
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) SNV
Germline		 ChrX:154031425 Pathogenic Rett syndrome
Condition: not provided
Inborn genetic diseases
Severe neonatal-onset encephalopathy with microcephaly		 Reviewed By Expert Panel
 CA270401 rs_61748391

7 SubmittersRCV000133097RCV000424796RCV002354326RCV003522932
NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter) SNV
Germline		 ChrX:154031415 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270404 rs_267608475

2 SubmittersRCV000133100
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys) SNV
Germline		 ChrX:154031406 Pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270411 rs_61748395

3 SubmittersRCV000133104RCV001849959
NM_001110792.2(MECP2):c.466A>T (p.Lys156Ter) SNV
Germline		 ChrX:154031398 Pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270415 rs_61748399

2 SubmittersRCV000133108
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) SNV
Germline		 ChrX:154031376 Likely pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Reviewed By Expert Panel
 CA270421 rs_61748403

5 SubmittersRCV000133114RCV000801156
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) SNV
Germline		 ChrX:154031373 Pathogenic Rett syndrome
Condition: not provided
not specified
Severe neonatal-onset encephalopathy with microcephaly
X-linked intellectual disability-psychosis-macroorchidism syndrome
Inborn genetic diseases
Rett syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
Syndromic X-linked intellectual disability Lubs type
Autism, susceptibility to, X-linked 3
Severe neonatal-onset encephalopathy with microcephaly		 Reviewed By Expert Panel
 CA270424 rs_61748404

20 SubmittersRCV000133116RCV000254929RCV000445575RCV000801154RCV002247513RCV002326847RCV003224165
NM_001110792.2(MECP2):c.499T>A (p.Phe167Ile) SNV
Germline		 ChrX:154031365 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270426 rs_61748406

2 SubmittersRCV000133117
NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys) SNV
Germline		 ChrX:154031364 Likely pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Single Submitter
 CA232969 rs_28934905

2 SubmittersRCV000133119RCV000170275
NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala) SNV
Germline		 ChrX:154031361 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270428 rs_61748407

2 SubmittersRCV000133120
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) SNV
Germline		 ChrX:154031361 Pathogenic Rett syndrome
Inborn genetic diseases		 Reviewed By Expert Panel
 CA270431 rs_61748407

4 SubmittersRCV000133121RCV001267441
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) SNV
Germline		 ChrX:154031359 Likely pathogenic Severe neonatal-onset encephalopathy with microcephaly
Rett syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA274628 rs_61748410

4 SubmittersRCV000133123RCV000170239RCV001815200
NM_001110792.2(MECP2):c.82C>T (p.Gln28Ter) SNV
Germline		 ChrX:154032538 Pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Single Submitter
 CA232975 rs_61754424

2 SubmittersRCV000133124RCV003389406
NM_001110792.2(MECP2):c.507C>G (p.Phe169Leu) SNV
Germline		 ChrX:154031357 Pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Reviewed By Expert Panel
 CA270435 rs_267608484

4 SubmittersRCV000133127RCV001385711
NM_001110792.2(MECP2):c.508A>G (p.Thr170Ala) SNV
Germline		 ChrX:154031356 Pathogenic Rett syndrome
Condition: not provided
Severe neonatal-onset encephalopathy with microcephaly		 Reviewed By Expert Panel
 CA270438 rs_61748411

5 SubmittersRCV000133128RCV000482544RCV003522933
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser) SNV
Germline		 ChrX:154031349 Conflicting classifications of pathogenicity Autism, susceptibility to, X-linked 3
Rett syndrome		 Criteria Provided
Conflicting Classifications
 CA170305 rs_61748414

3 SubmittersRCV000133132RCV001332544
NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp) SNV
Germline		 ChrX:154031347 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270443 rs_61748416

2 SubmittersRCV000133135
NM_001110792.2(MECP2):c.518G>A (p.Gly173Glu) SNV
Germline		 ChrX:154031346 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270446 rs_61748417

2 SubmittersRCV000133136
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val) SNV
Germline		 ChrX:154031346 Likely pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270449 rs_61748417

3 SubmittersRCV000133137RCV003522934
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) SNV
Germline		 ChrX:154031329 Pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome
Condition: not provided
Severe neonatal-onset encephalopathy with microcephaly
See cases
Inborn genetic diseases		 Reviewed By Expert Panel
 CA170308 rs_61748420

16 SubmittersRCV000133142RCV000193537RCV000498300RCV000688107RCV002252000RCV002336285
NM_001110792.2(MECP2):c.544C>T (p.Gln182Ter) SNV
Germline		 ChrX:154031320 Pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270454 rs_61748425

3 SubmittersRCV000133144RCV001219355
NM_001110792.2(MECP2):c.551C>T (p.Pro184Leu) SNV
Germline		 ChrX:154031313 Conflicting classifications of pathogenicity not specified
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Inborn genetic diseases
MECP2-related disorder		 Criteria Provided
Conflicting Classifications
 CA170313 rs_267608491

5 SubmittersRCV000133147RCV003990988RCV002055854RCV002336286RCV004532603
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) SNV
Germline		 ChrX:154031310 Conflicting classifications of pathogenicity not specified
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Conflicting Classifications
 CA170316 rs_267608492

5 SubmittersRCV000133149RCV000192592RCV000686598
NM_001110792.2(MECP2):c.559A>T (p.Lys187Ter) SNV
Germline		 ChrX:154031305 Likely pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Single Submitter
 CA232979 rs_61748428

2 SubmittersRCV000133150RCV003990989
NM_001110792.2(MECP2):c.565A>T (p.Lys189Ter) SNV
Germline		 ChrX:154031299 Pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Single Submitter
 CA232983 rs_61749702

2 SubmittersRCV000133153RCV003483518
NM_001110792.2(MECP2):c.574A>T (p.Lys192Ter) SNV
Germline		 ChrX:154031290 Pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270462 rs_267608495

2 SubmittersRCV000133155
NM_001110792.2(MECP2):c.91C>T (p.Gln31Ter) SNV
Germline		 ChrX:154032529 Pathogenic Rett syndrome
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270467 rs_61754425

3 SubmittersRCV000133160RCV002316919
NM_001110792.2(MECP2):c.628A>T (p.Arg210Ter) SNV
Germline		 ChrX:154031236 Pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270473 rs_61749717

2 SubmittersRCV000133169
NM_001110792.2(MECP2):c.634A>T (p.Lys212Ter) SNV
Germline		 ChrX:154031230 Pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270476 rs_61749718

2 SubmittersRCV000133171
NM_001110792.2(MECP2):c.649G>T (p.Glu217Ter) SNV
Germline		 ChrX:154031215 Pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270482 rs_61749726

2 SubmittersRCV000133176
NM_001110792.2(MECP2):c.658C>T (p.Gln220Ter) SNV
Germline		 ChrX:154031206 Pathogenic Rett syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270487 rs_61749729

4 SubmittersRCV000133181RCV000760380
NM_001110792.2(MECP2):c.100A>T (p.Lys34Ter) SNV
Germline		 ChrX:154032520 Pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270495 rs_62641234

2 SubmittersRCV000133187
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr) SNV
Germline		 ChrX:154031155 Pathogenic/Likely pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA232991 rs_267608513

3 SubmittersRCV000133192RCV000193090
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) SNV
Germline		 ChrX:154031154 Pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Irregular respiration
Severe global developmental delay
Developmental regression
Seizure
Absent speech
Condition: not provided
MECP2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270500 rs_61749715

10 SubmittersRCV000133193RCV000476280RCV000626873RCV001090502RCV004532609
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter) SNV
Germline		 ChrX:154031142 Pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA232994 rs_61749739

4 SubmittersRCV000133199RCV000193948
NM_001110792.2(MECP2):c.796A>T (p.Lys266Ter) SNV
Germline		 ChrX:154031068 Likely pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Single Submitter
 CA233004 rs_63259763

2 SubmittersRCV000133234RCV003991002
NM_001110792.2(MECP2):c.820C>T (p.Gln274Ter) SNV
Germline		 ChrX:154031044 Pathogenic Rett syndrome
MECP2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270524 rs_267608525

4 SubmittersRCV000133237RCV004532614
NM_001110792.2(MECP2):c.835A>T (p.Lys279Ter) SNV
Germline		 ChrX:154031029 Pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270528 rs_61750238

2 SubmittersRCV000133240
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) SNV
Germline		 ChrX:154030992 Conflicting classifications of pathogenicity Rett syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
Severe neonatal-onset encephalopathy with microcephaly
Syndromic X-linked intellectual disability Lubs type
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Conflicting Classifications
 CA270535 rs_61750249

4 SubmittersRCV000133252RCV002274929RCV003522937
NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter) SNV
Germline		 ChrX:154030963 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270541 rs_61750259

2 SubmittersRCV000133260
NM_001110792.2(MECP2):c.925C>T (p.Gln309Ter) SNV
Germline		 ChrX:154030939 Pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270553 rs_61751367

3 SubmittersRCV000133269RCV000688413
NM_001110792.2(MECP2):c.940C>A (p.Pro314Thr) SNV
Germline		 ChrX:154030924 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270562 rs_61751373

2 SubmittersRCV000133276
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala) SNV
Germline		 ChrX:154030924 Pathogenic Rett syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270565 rs_61751373

3 SubmittersRCV000133277RCV002247514
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) SNV
Germline		 ChrX:154030924 Pathogenic/Likely pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270567 rs_61751373

4 SubmittersRCV000133278RCV001067586RCV001812116
NM_001110792.2(MECP2):c.941C>A (p.Pro314His) SNV
Germline		 ChrX:154030923 Pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270570 rs_61749723

4 SubmittersRCV000133279RCV001237156RCV001571974
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg) SNV
Germline		 ChrX:154030923 Pathogenic/Likely pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270572 rs_61749723

6 SubmittersRCV000133280RCV002515933RCV003114287
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) SNV
Germline		 ChrX:154030923 Pathogenic Rett syndrome
Condition: not provided
Severe neonatal-onset encephalopathy with microcephaly		 Reviewed By Expert Panel
 CA270574 rs_61749723

7 SubmittersRCV000133281RCV000413239RCV000754784
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu) SNV
Germline		 ChrX:154030918 Likely pathogenic Rett syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA270580 rs_61751440

4 SubmittersRCV000133286RCV001564211
NM_001110792.2(MECP2):c.947A>G (p.Lys316Arg) SNV
Germline		 ChrX:154030917 Conflicting classifications of pathogenicity not specified
Rett syndrome		 Criteria Provided
Conflicting Classifications
 CA170406 rs_267608550

3 SubmittersRCV000133287RCV003991010
NM_001110792.2(MECP2):c.949A>G (p.Lys317Glu) SNV
Germline		 ChrX:154030915 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA270583 rs_267608551

2 SubmittersRCV000133288
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg) SNV
Germline		 ChrX:154030914 Pathogenic/Likely pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270586 rs_61751441

3 SubmittersRCV000133289RCV002515934
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) SNV
Germline		 ChrX:154030911 Pathogenic/Likely pathogenic Rett syndrome
Condition: not provided
Neurodevelopmental disorder
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270588 rs_61751443

9 SubmittersRCV000133290RCV000256087RCV001778753RCV001857484
NM_001110792.2(MECP2):c.953G>T (p.Arg318Leu) SNV
Germline		 ChrX:154030911 Pathogenic/Likely pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA233016 rs_61751443

3 SubmittersRCV000133291RCV001420142
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) SNV
Germline		 ChrX:154030903 Pathogenic Autism, susceptibility to, X-linked 3
Rett syndrome
Condition: not provided
X-linked intellectual disability-psychosis-macroorchidism syndrome
Inborn genetic diseases
Severe neonatal-onset encephalopathy with microcephaly
Intellectual disability
Syndromic X-linked intellectual disability Lubs type		 Reviewed By Expert Panel
 CA199325 rs_61751444

23 SubmittersRCV000170240RCV000170241RCV000133293RCV000169947RCV000624661RCV001049007RCV000851523RCV003984819
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) SNV
Germline		 ChrX:154030864 Pathogenic/Likely pathogenic Rett syndrome
Condition: not provided
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274540 rs_61751449

4 SubmittersRCV000169949RCV002262751RCV003522939
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) SNV
Germline		 ChrX:154030863 Pathogenic Rett syndrome
Condition: not provided
Severe neonatal-onset encephalopathy with microcephaly
Severe neonatal-onset encephalopathy with microcephaly
X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome
Syndromic X-linked intellectual disability Lubs type
Autism, susceptibility to, X-linked 3		 Reviewed By Expert Panel
 CA270591 rs_61751450

6 SubmittersRCV000133300RCV000414666RCV001849960RCV003883134
NM_001110792.2(MECP2):c.1028A>G (p.Lys343Arg) SNV
Germline		 ChrX:154030836 Conflicting classifications of pathogenicity not specified
Severe neonatal-onset encephalopathy with microcephaly
Rett syndrome		 Criteria Provided
Conflicting Classifications
 CA170424 rs_267608557

3 SubmittersRCV000133307RCV001512172RCV003389408
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) SNV
Germline		 ChrX:18604572 Pathogenic Developmental and epileptic encephalopathy, 2
Atypical Rett syndrome
Condition: not provided
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199285 rs_267608643

8 SubmittersRCV000170009RCV000169916RCV000133327RCV001244788
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) SNV
Germline/somatic		 ChrX:18604599 Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 2
Condition: not provided
Atypical Rett syndrome
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA171614 rs_267608395

9 SubmittersRCV000145521RCV000133328RCV000169917RCV000694251
NM_001323289.2(CDKL5):c.1708G>T (p.Glu570Ter) SNV
Unknown		 ChrX:18604632 Pathogenic Atypical Rett syndrome No Assertion Criteria Provided
 CA170452 rs_267608644

1 SubmittersRCV000133329
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) SNV
Germline		 ChrX:18575383 Pathogenic Atypical Rett syndrome
Developmental and epileptic encephalopathy, 2
Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
CDKL5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA171618 rs_62653623

6 SubmittersRCV000170010RCV000145523RCV000711154RCV001385702RCV004532618
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) SNV
Germline		 ChrX:18575407 Conflicting classifications of pathogenicity Rett syndrome
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like		 Criteria Provided
Conflicting Classifications
 CA170464 rs_267608437

3 SubmittersRCV000133338RCV000145527RCV001849962
NM_001323289.2(CDKL5):c.215T>A (p.Ile72Asn) SNV
Germline		 ChrX:18575423 Pathogenic Atypical Rett syndrome No Assertion Criteria Provided
 CA170469 rs_62641235

1 SubmittersRCV000133344
NM_001323289.2(CDKL5):c.352C>T (p.Gln118Ter) SNV
Germline		 ChrX:18579917 Pathogenic Atypical Rett syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA170489 rs_267608453

2 SubmittersRCV000133365RCV000598592
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) SNV
Germline		 ChrX:18579945 Pathogenic Condition: not provided
Atypical Rett syndrome
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
CDKL5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199281 rs_267608468

6 SubmittersRCV000133366RCV000169914RCV001071921RCV004528868
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) SNV
Germline		 ChrX:18584331 Pathogenic Condition: not provided
Developmental and epileptic encephalopathy, 2
Atypical Rett syndrome
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
Intellectual disability
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199283 rs_267608493

9 SubmittersRCV000133373RCV000169915RCV000169986RCV000544362RCV001260657RCV002345449
NM_001323289.2(CDKL5):c.607G>T (p.Glu203Ter) SNV
Unknown		 ChrX:18588006 Pathogenic Atypical Rett syndrome No Assertion Criteria Provided
 CA170498 rs_267608505

1 SubmittersRCV000133380
NM_001110792.2(MECP2):c.63-2A>G SNV
Germline		 ChrX:154032559 Pathogenic Condition: not provided
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA233142 rs_267608412

3 SubmittersRCV000144093RCV000170180RCV002514773
NM_001110792.2(MECP2):c.63-6C>G SNV
Germline		 ChrX:154032563 Pathogenic/Likely pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA090927 rs_267608411

3 SubmittersRCV000144095RCV000170187
NM_001110792.2(MECP2):c.413+1G>A SNV
Germline		 ChrX:154032206 Pathogenic Rett syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA233145 rs_267608463

2 SubmittersRCV000170191RCV000144099
NM_001110792.2(MECP2):c.413+1G>T SNV
Germline		 ChrX:154032206 Pathogenic Condition: not provided
Rett syndrome
Bruxism
Delayed gross motor development
Stereotypic movement disorder
Delayed speech and language development		 Criteria Provided
Multiple Submitters
No Conflicts
 CA233146 rs_267608463

3 SubmittersRCV000144100RCV000170192RCV000626871
NM_001110792.2(MECP2):c.413+2T>G SNV
Germline		 ChrX:154032205 Pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Single Submitter
 CA233147 rs_267608458

2 SubmittersRCV000144105RCV000170269
NM_001110792.2(MECP2):c.414-14G>A SNV
Germline		 ChrX:154031464 Conflicting classifications of pathogenicity Condition: not provided
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Conflicting Classifications
 CA233148 rs_267608467

3 SubmittersRCV000144109RCV000170272RCV002512556
NM_001110792.2(MECP2):c.414-2A>C SNV
Germline		 ChrX:154031452 Pathogenic Condition: not provided
Rett syndrome
MECP2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA233149 rs_267608464

3 SubmittersRCV000144112RCV000170198RCV004532624
NM_001110792.2(MECP2):c.414-2A>G SNV
Germline		 ChrX:154031452 Pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Single Submitter
 CA233150 rs_267608464

3 SubmittersRCV000144113RCV000170199
NM_001110792.2(MECP2):c.414-2A>T SNV
Germline		 ChrX:154031452 Pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Single Submitter
 CA233151 rs_267608464

2 SubmittersRCV000144114RCV000170200
NM_001110792.2(MECP2):c.414-3C>G SNV
Germline		 ChrX:154031453 Pathogenic Condition: not provided
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
not specified
Inborn genetic diseases
Rett syndrome
Autism, susceptibility to, X-linked 3
Severe neonatal-onset encephalopathy with microcephaly
Syndromic X-linked intellectual disability Lubs type
X-linked intellectual disability-psychosis-macroorchidism syndrome
Syndromic X-linked intellectual disability Lubs type		 Reviewed By Expert Panel
 CA233152 rs_267608465

15 SubmittersRCV000144115RCV000170202RCV000800164RCV001000857RCV002345450RCV003224800RCV003989325
NM_001323289.2(CDKL5):c.145+2T>C SNV
Germline		 ChrX:18564524 Pathogenic Condition: not provided
Atypical Rett syndrome		 No Assertion Criteria Provided
 CA199380 rs_267608430

1 SubmittersRCV000144121RCV000169999
NM_001323289.2(CDKL5):c.2047-1G>A SNV
Germline		 ChrX:18609464 Pathogenic Atypical Rett syndrome
Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2		 Criteria Provided
Single Submitter
 CA199386 rs_267608650

3 SubmittersRCV000170016RCV000144124RCV001385706RCV001849177
NM_001323289.2(CDKL5):c.2376+5G>A SNV
Germline		 ChrX:18619971 Likely pathogenic Condition: not provided
Atypical Rett syndrome		 No Assertion Criteria Provided
 CA199367 rs_267608657

1 SubmittersRCV000144129RCV000169983
NM_001323289.2(CDKL5):c.463+1G>A SNV
Germline		 ChrX:18581951 Pathogenic Condition: not provided
Atypical Rett syndrome
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like		 Criteria Provided
Single Submitter
 CA199404 rs_267608479

2 SubmittersRCV000144135RCV000170044RCV002512557
NM_001323289.2(CDKL5):c.211A>G (p.Asn71Asp) SNV
Germline		 ChrX:18575419 Pathogenic Condition: not provided
Atypical Rett syndrome		 Criteria Provided
Single Submitter
 CA199365 rs_587783072

2 SubmittersRCV000144734RCV000169981
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) SNV
Germline		 ChrX:154097665 Likely pathogenic Condition: not provided
Rett syndrome		 Reviewed By Expert Panel
 CA274666 rs_587783132

5 SubmittersRCV000144804RCV000170280
NM_001110792.2(MECP2):c.359T>C (p.Leu120Pro) SNV
Germline		 ChrX:154032261 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 rs_61754458

1 SubmittersRCV003223521
NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro) SNV
Germline		 Chr14:28767488 Conflicting classifications of pathogenicity not specified
Rett syndrome, congenital variant
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA294776 rs_587783633

5 SubmittersRCV000145985RCV000576256RCV002316930
NM_005249.5(FOXG1):c.563C>G (p.Ala188Gly) SNV
Germline		 Chr14:28767842 Likely pathogenic Rett syndrome, congenital variant
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA172187 rs_587783638

2 SubmittersRCV000145992RCV004558345
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val) SNV
Germline		 Chr14:28768034 Likely pathogenic Rett syndrome, congenital variant
Condition: not provided
Intellectual disability
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA172191 rs_587783640

5 SubmittersRCV000145994RCV000170083RCV001260760RCV004558346
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp) SNV
Germline		 Chr14:28768036 Pathogenic/Likely pathogenic Rett syndrome, congenital variant
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA172193 rs_587783641

4 SubmittersRCV000145995RCV004558347
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter) SNV
Germline		 Chr14:28768041 Pathogenic/Likely pathogenic Rett syndrome, congenital variant
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA172195 rs_587783642

3 SubmittersRCV000145996RCV004558348
NM_005249.5(FOXG1):c.765G>T (p.Trp255Cys) SNV
Germline		 Chr14:28768044 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 CA172197 rs_121913678

1 SubmittersRCV000145997
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser) SNV
Germline		 Chr14:28768078 Pathogenic Rett syndrome, congenital variant
Condition: not provided
FOXG1 disorder		 Reviewed By Expert Panel
 CA172199 rs_587783643

3 SubmittersRCV000145998RCV000480864RCV001507048
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) SNV
Germline		 Chr14:28767949 Likely pathogenic Condition: not provided
Rett syndrome, congenital variant
FOXG1 disorder		 Reviewed By Expert Panel
 CA234034 rs_727503935

6 SubmittersRCV000153265RCV000500932RCV002260625
NM_001110792.2(MECP2):c.520A>G (p.Arg174Gly) SNV
Germline		 ChrX:154031344 Pathogenic Rett syndrome No Assertion Criteria Provided
 CA273728 rs_727505391

1 SubmittersRCV000157062
NM_005249.5(FOXG1):c.136C>T (p.Gln46Ter) SNV
Germline		 Chr14:28767415 Pathogenic Condition: not provided
Rett syndrome, congenital variant
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA235612 rs_786205000

4 SubmittersRCV000170071RCV001781530RCV004558423
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) SNV
Germline		 Chr14:28767535 Pathogenic/Likely pathogenic Rett syndrome, congenital variant
Condition: not provided
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199431 rs_398124202

7 SubmittersRCV000170072RCV000187451RCV004558424
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) SNV
Germline		 Chr14:28767856 Pathogenic/Likely pathogenic Rett syndrome, congenital variant
Inborn genetic diseases
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199438 rs_786205005

6 SubmittersRCV000170078RCV000624178RCV004558428
NM_005249.5(FOXG1):c.689G>A (p.Arg230His) SNV
Germline		 Chr14:28767968 Likely pathogenic Rett syndrome, congenital variant
FOXG1 disorder		 Criteria Provided
Single Submitter
 CA199440 rs_786205007

2 SubmittersRCV000170080RCV004558430
NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro) SNV
Germline		 Chr14:28767979 Pathogenic/Likely pathogenic Rett syndrome, congenital variant
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199442 rs_786205008

3 SubmittersRCV000170081RCV004558431
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys) SNV
Germline		 Chr14:28768009 Pathogenic/Likely pathogenic Rett syndrome, congenital variant
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199444 rs_786205009

4 SubmittersRCV000170082RCV004558432
NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter) SNV
Germline		 Chr14:28768527 Pathogenic Rett syndrome, congenital variant
Condition: not provided
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199429 rs_786204999

5 SubmittersRCV000170070RCV002307428RCV004558422
NM_001110792.2(MECP2):c.802A>T (p.Lys268Ter) SNV
Germline		 ChrX:154031062 Pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA274602 rs_786205027

2 SubmittersRCV000170214
NM_001110792.2(MECP2):c.538C>A (p.Arg180=) SNV
Unknown		 ChrX:154031326 Pathogenic Rett syndrome No Assertion Criteria Provided
 CA274594 rs_61748421

1 SubmittersRCV000170207
NM_001110792.2(MECP2):c.62+1G>A SNV
Germline		 ChrX:154097603 Pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Reviewed By Expert Panel
 CA274678 rs_786205048

5 SubmittersRCV000170294RCV000558865
NM_001110792.2(MECP2):c.48C>T (p.Gly16=) SNV
Germline		 ChrX:154097618 Pathogenic Rett syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274675 rs_786205045

5 SubmittersRCV000170291RCV000519373RCV004020017
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) SNV
Germline		 ChrX:154097665 Pathogenic/Likely pathogenic Rett syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274664 rs_587783132

4 SubmittersRCV000170279RCV003329250
NM_001323289.2(CDKL5):c.403+1G>A SNV
Germline		 ChrX:18579969 Pathogenic Atypical Rett syndrome
Developmental and epileptic encephalopathy, 2		 Criteria Provided
Single Submitter
 CA199398 rs_786204984

2 SubmittersRCV000170038RCV003444105
NM_001323289.2(CDKL5):c.464-1G>A SNV
Unknown		 ChrX:18584262 Pathogenic Atypical Rett syndrome No Assertion Criteria Provided
 CA199405 rs_786204986

1 SubmittersRCV000170045
NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys) SNV
Germline		 ChrX:18584327 Pathogenic Atypical Rett syndrome
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2		 Criteria Provided
Single Submitter
 CA199411 rs_786204989

2 SubmittersRCV000170050RCV001850413
NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro) SNV
Germline		 ChrX:18588055 Likely pathogenic Atypical Rett syndrome
Inborn genetic diseases		 Criteria Provided
Single Submitter
 CA199370 rs_786204963

2 SubmittersRCV000169988RCV000622992
NM_001323289.2(CDKL5):c.1090G>T (p.Glu364Ter) SNV
Unknown		 ChrX:18604014 Pathogenic Atypical Rett syndrome No Assertion Criteria Provided
 CA199374 rs_786204966

1 SubmittersRCV000169993
NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter) SNV
Germline		 ChrX:18604299 Pathogenic Atypical Rett syndrome
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like		 Criteria Provided
Single Submitter
 CA199377 rs_786204969

2 SubmittersRCV000169996RCV003765058
NM_001323289.2(CDKL5):c.2046+1G>A SNV
Germline		 ChrX:18608913 Pathogenic Atypical Rett syndrome
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like		 Criteria Provided
Single Submitter
 CA199385 rs_786204976

2 SubmittersRCV000170015RCV000536060
NM_001323289.2(CDKL5):c.2704C>T (p.Gln902Ter) SNV
Germline		 ChrX:18628578 Pathogenic Atypical Rett syndrome No Assertion Criteria Provided
 CA199394 rs_786204981

1 SubmittersRCV000170034
NM_004992.4(MECP2):c.1A>T (p.Met1Leu) SNV
Unknown		 ChrX:154092209 Pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA274831 rs_786205892

1 SubmittersRCV000172861
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln) SNV
Germline		 Chr14:28767524 Conflicting classifications of pathogenicity not specified
Rett syndrome, congenital variant
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA314578 rs_796052453

5 SubmittersRCV000187439RCV000648322RCV001704984RCV002311266
NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser) SNV
Germline		 Chr14:28767655 Conflicting classifications of pathogenicity not specified
Rett syndrome, congenital variant
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA314582 rs_796052455

5 SubmittersRCV000187441RCV000695180RCV001704985RCV002345670
NM_005249.5(FOXG1):c.561C>A (p.Asn187Lys) SNV
Germline		 Chr14:28767840 Pathogenic Condition: not provided
Inborn genetic diseases
FOXG1 disorder
Rett syndrome, congenital variant		 Reviewed By Expert Panel
 CA204685 rs_796052462

4 SubmittersRCV000187456RCV000190704RCV001507060RCV001781545
NM_005249.5(FOXG1):c.586C>T (p.Gln196Ter) SNV
Germline		 Chr14:28767865 Pathogenic Condition: not provided
Rett syndrome, congenital variant
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA314610 rs_796052463

3 SubmittersRCV000187457RCV001781546RCV004558436
NM_005249.5(FOXG1):c.651C>G (p.Tyr217Ter) SNV
Germline		 Chr14:28767930 Pathogenic Condition: not provided
Rett syndrome, congenital variant
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA314612 rs_796052464

4 SubmittersRCV000187458RCV001781547RCV004558437
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) SNV
Germline		 Chr14:28767980 Conflicting classifications of pathogenicity Rett syndrome, congenital variant
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_1555321334

3 SubmittersRCV001857610RCV001266190
NM_005249.5(FOXG1):c.812G>A (p.Gly271Asp) SNV
Germline		 Chr14:28768091 Likely pathogenic Condition: not provided
Rett syndrome, congenital variant		 Criteria Provided
Multiple Submitters
No Conflicts
 CA314624 rs_796052469

2 SubmittersRCV000187466RCV000803740
NM_005249.5(FOXG1):c.1278G>A (p.Met426Ile) SNV
Germline		 Chr14:28768557 Conflicting classifications of pathogenicity not specified
Rett syndrome, congenital variant
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA314594 rs_747138265

4 SubmittersRCV000187447RCV001206355RCV001704987RCV002444758
NM_005249.5(FOXG1):c.498G>C (p.Gly166=) SNV
Germline		 Chr14:28767777 Conflicting classifications of pathogenicity not specified
Rett syndrome, congenital variant		 Criteria Provided
Conflicting Classifications
 CA208875 rs_764054659

2 SubmittersRCV000194604RCV002056987
NM_005249.5(FOXG1):c.821G>A (p.Arg274Gln) SNV
Germline		 Chr14:28768100 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 CA357167 rs_869312700

1 SubmittersRCV000209877
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu) SNV
Germline		 ChrX:154031178 Likely pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Reviewed By Expert Panel
 CA10581615 rs_878853312

3 SubmittersRCV000225456RCV001056633
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys) SNV
Germline		 Chr14:28767832 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Multiple Submitters
No Conflicts
 CA10586143 rs_879255530

2 SubmittersRCV000239423
NM_005249.5(FOXG1):c.561C>G (p.Asn187Lys) SNV
Germline		 Chr14:28767840 Pathogenic Condition: not provided
Inborn genetic diseases
Rett syndrome, congenital variant		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588574 rs_796052462

3 SubmittersRCV000255136RCV000624779RCV001859479
NM_005249.5(FOXG1):c.689G>T (p.Arg230Leu) SNV
Germline		 Chr14:28767968 Conflicting classifications of pathogenicity Condition: not provided
Rett syndrome, congenital variant		 Criteria Provided
Conflicting Classifications
 CA10606123 rs_786205007

2 SubmittersRCV000395229RCV003629112
NM_005249.5(FOXG1):c.543G>T (p.Lys181Asn) SNV
Germline		 Chr14:28767822 Pathogenic/Likely pathogenic Rett syndrome, congenital variant
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10654766 rs_767961672

2 SubmittersRCV000408627RCV001577698
NM_005249.5(FOXG1):c.554G>T (p.Ser185Ile) SNV
Germline		 Chr14:28767833 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 CA10654909 rs_1057516138

1 SubmittersRCV000408825
NM_005249.5(FOXG1):c.645C>G (p.Phe215Leu) SNV
Germline		 Chr14:28767924 Pathogenic Condition: not provided
Rett syndrome, congenital variant		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042954 rs_1057518165

2 SubmittersRCV000414314RCV001069733
NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys) SNV
Germline		 ChrX:154032252 Likely pathogenic Rett syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043705 rs_1057518718

3 SubmittersRCV000415409RCV003144255
NM_005249.5(FOXG1):c.406G>T (p.Glu136Ter) SNV
Germline		 Chr14:28767685 Pathogenic Condition: not provided
Rett syndrome, congenital variant		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16606550 rs_1057520663

3 SubmittersRCV000425305RCV001254160
NM_005249.5(FOXG1):c.460G>T (p.Glu154Ter) SNV
Germline		 Chr14:28767739 Pathogenic Condition: not provided
Rett syndrome, congenital variant
FOXG1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16606551 rs_1057520780

3 SubmittersRCV000429306RCV002524860RCV003392239
NM_001110792.2(MECP2):c.504C>A (p.Asp168Glu) SNV
Unknown		 ChrX:154031360 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 CA16609353 rs_61748408

1 SubmittersRCV000445574
NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu) SNV
Germline		 Chr14:28767964 Likely pathogenic Condition: not provided
Rett syndrome, congenital variant
FOXG1 disorder		 Reviewed By Expert Panel
 CA16621657 rs_1064797186

3 SubmittersRCV000487770RCV000503039RCV002260643
NM_001110792.2(MECP2):c.1177C>T (p.Pro393Ser) SNV
Germline		 ChrX:154030687 Conflicting classifications of pathogenicity Condition: not provided
Severe neonatal-onset encephalopathy with microcephaly
MECP2-related disorder
Rett syndrome		 Criteria Provided
Conflicting Classifications
 CA10558497 rs_61752981

4 SubmittersRCV000498332RCV002524071RCV004535561RCV003991029
NM_005249.5(FOXG1):c.713G>A (p.Cys238Tyr) SNV
Germline		 Chr14:28767992 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 CA389475703 rs_1555321337

1 SubmittersRCV000504441
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) SNV
Germline		 ChrX:154031377 Likely pathogenic Condition: not provided
Rett syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA415174739 rs_1557137042

2 SubmittersRCV000512893RCV000991004
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) SNV
Germline		 Chr9:98371535 Pathogenic Rett syndrome
Neurodevelopmental disorder with poor language and loss of hand skills
Inborn genetic diseases
Condition: not provided
Epileptic encephalopathy
GABBR2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA196783275 rs_922847767

12 SubmittersRCV000515463RCV000590831RCV000622956RCV001200540RCV001061069RCV003392345
NM_005249.5(FOXG1):c.537C>G (p.Tyr179Ter) SNV
Germline		 Chr14:28767816 Pathogenic/Likely pathogenic Condition: not provided
Rett syndrome, congenital variant		 Criteria Provided
Multiple Submitters
No Conflicts
 CA389475311 rs_1555321301

2 SubmittersRCV000519246RCV001706659
NM_005249.5(FOXG1):c.573G>A (p.Met191Ile) SNV
Germline		 Chr14:28767852 Likely pathogenic Condition: not provided
Rett syndrome, congenital variant
FOXG1 disorder		 Reviewed By Expert Panel
 CA389475390 rs_1555321311

3 SubmittersRCV000522911RCV001297654RCV003235269
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) SNV
Germline		 Chr14:28767903 Pathogenic Rett syndrome, congenital variant
Global developmental delay
Axial hypotonia
Stereotypic movement disorder
Strabismus
Abnormal optic nerve morphology		 Criteria Provided
Multiple Submitters
No Conflicts
 CA389475504 rs_267606826

4 SubmittersRCV000550163RCV001003977
NM_005249.5(FOXG1):c.214C>T (p.Gln72Ter) SNV
Germline		 Chr14:28767493 Pathogenic Rett syndrome, congenital variant
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA389474644 rs_1555321237

3 SubmittersRCV000576162RCV001093029
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) SNV
Germline		 Chr8:23007710 Conflicting classifications of pathogenicity Rett syndrome
Developmental and epileptic encephalopathy, 64
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA370569442 rs_1554504681

10 SubmittersRCV000585816RCV000656374RCV001266474RCV001090302
NM_005249.5(FOXG1):c.764G>A (p.Trp255Ter) SNV
Unknown		 Chr14:28768043 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 CA389475819 rs_1555321351

1 SubmittersRCV000585809
NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp) SNV
Germline		 ChrX:154031112 Conflicting classifications of pathogenicity Condition: not provided
Rett syndrome		 Criteria Provided
Conflicting Classifications
 CA415172315 rs_1557136591

2 SubmittersRCV000589763RCV001175142
NM_001110792.2(MECP2):c.62+2T>G SNV
Germline		 ChrX:154097602 Pathogenic Condition: not provided
Rett syndrome		 Reviewed By Expert Panel
 CA415300768 rs_1557150841

2 SubmittersRCV000598684RCV001507030
NM_005249.5(FOXG1):c.694A>G (p.Asn232Asp) SNV
Germline		 Chr14:28767973 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 CA389475664 rs_786205486

1 SubmittersRCV000648315
NM_005249.5(FOXG1):c.770T>C (p.Leu257Pro) SNV
Germline		 Chr14:28768049 Pathogenic/Likely pathogenic Condition: not provided
Rett syndrome, congenital variant		 Criteria Provided
Multiple Submitters
No Conflicts
 CA389475835 rs_1555321353

3 SubmittersRCV000656311RCV003448331
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) SNV
Germline		 Chr14:28767844 Likely pathogenic Rett syndrome, congenital variant
FOXG1 disorder		 Reviewed By Expert Panel
 rs_1555321308

4 SubmittersRCV000659679RCV003235331
NM_001110792.2(MECP2):c.605G>A (p.Arg202His) SNV
Germline		 ChrX:154031259 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 rs_1557136818

1 SubmittersRCV000662350
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe) SNV
Germline		 Chr14:28767982 Pathogenic/Likely pathogenic Rett syndrome, congenital variant
Neurodevelopmental disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566445489

3 SubmittersRCV000706347RCV001374989
NM_005249.5(FOXG1):c.1023C>G (p.Tyr341Ter) SNV
Germline		 Chr14:28768302 Pathogenic Rett syndrome, congenital variant Criteria Provided
Multiple Submitters
No Conflicts
 rs_764343290

2 SubmittersRCV000694652
NM_005249.5(FOXG1):c.763T>A (p.Trp255Arg) SNV
Germline		 Chr14:28768042 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV000760276
NM_005249.5(FOXG1):c.762C>A (p.Tyr254Ter) SNV
Germline		 Chr14:28768041 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_587783642

1 SubmittersRCV000807075
NM_001110792.2(MECP2):c.948G>C (p.Lys316Asn) SNV
Germline		 ChrX:154030916 Pathogenic Severe neonatal-onset encephalopathy with microcephaly
Inborn genetic diseases
Rett syndrome		 Reviewed By Expert Panel
 rs_1603308358

3 SubmittersRCV000811977RCV002370183RCV004584221
NM_005249.5(FOXG1):c.382G>T (p.Gly128Cys) SNV
Germline		 Chr14:28767661 Conflicting classifications of pathogenicity Condition: not provided
Rett syndrome, congenital variant
FOXG1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1029176730

3 SubmittersRCV000832453RCV001351679RCV003392631
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys) SNV
Unknown		 Chr14:28767967 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_1594383704

1 SubmittersRCV000989199
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) SNV
Germline		 ChrX:154031311 Conflicting classifications of pathogenicity Rett syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_61748427

2 SubmittersRCV000991000RCV003128734
NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter) SNV
Germline		 ChrX:154031323 Pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1603309480

2 SubmittersRCV000991001RCV001869365
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr) SNV
Unknown		 ChrX:154031362 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 rs_1603309620

1 SubmittersRCV000991002
NM_005249.5(FOXG1):c.1222A>T (p.Asn408Tyr) SNV
Germline		 Chr14:28768501 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_1594384249

1 SubmittersRCV000995769
NM_001110792.2(MECP2):c.230C>T (p.Ser77Leu) SNV
Germline		 ChrX:154032390 Pathogenic Rett syndrome Criteria Provided
Single Submitter
 rs_61754437

1 SubmittersRCV001007927
NM_005249.5(FOXG1):c.301C>T (p.Gln101Ter) SNV
Germline		 Chr14:28767580 Pathogenic Rett syndrome, congenital variant
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1881788747

2 SubmittersRCV001035211RCV001556448
NM_005249.5(FOXG1):c.738C>G (p.Tyr246Ter) SNV
Germline		 Chr14:28768017 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_1240929961

1 SubmittersRCV001056667
NM_005249.5(FOXG1):c.797T>G (p.Ile266Ser) SNV
Germline		 Chr14:28768076 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_886041744

1 SubmittersRCV001040750
NM_005249.5(FOXG1):c.584G>C (p.Arg195Pro) SNV
Germline		 Chr14:28767863 Pathogenic/Likely pathogenic Condition: not provided
Rett syndrome, congenital variant		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1001642335

2 SubmittersRCV001093032RCV003444152
NM_005249.5(FOXG1):c.759C>A (p.Asn253Lys) SNV
Germline		 Chr14:28768038 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_767873754

1 SubmittersRCV001171512
NM_005249.5(FOXG1):c.1170C>A (p.Cys390Ter) SNV
Germline		 Chr14:28768449 Pathogenic Condition: not provided
Rett syndrome, congenital variant		 Criteria Provided
Single Submitter
 rs_1392520466

2 SubmittersRCV001172075RCV002281584
NM_005249.5(FOXG1):c.563C>A (p.Ala188Glu) SNV
Germline		 Chr14:28767842 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_587783638

1 SubmittersRCV001194653
NM_005249.5(FOXG1):c.653A>G (p.Tyr218Cys) SNV
Germline		 Chr14:28767932 Pathogenic/Likely pathogenic Rett syndrome, congenital variant
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1881804364

2 SubmittersRCV001249640RCV001664782
NM_001110792.2(MECP2):c.2T>C (p.Met1Thr) SNV
Germline		 ChrX:154097664 Conflicting classifications of pathogenicity Rett syndrome Criteria Provided
Conflicting Classifications
 rs_2066907057

2 SubmittersRCV001250739
NM_005249.5(FOXG1):c.590G>T (p.Ser197Ile) SNV
Germline		 Chr14:28767869 Pathogenic Rett syndrome, congenital variant
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1881802605

2 SubmittersRCV001253307RCV001819960
NM_005249.5(FOXG1):c.581T>C (p.Ile194Thr) SNV
Unknown		 Chr14:28767860 Likely pathogenic Rett syndrome, congenital variant No Assertion Criteria Provided

1 SubmittersRCV001255845
NM_005249.5(FOXG1):c.632T>C (p.Ile211Thr) SNV
Germline		 Chr14:28767911 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_1594383648

1 SubmittersRCV001258332
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr) SNV
Germline		 Chr14:28767899 Likely pathogenic Rett syndrome, congenital variant
Inborn genetic diseases
FOXG1 disorder		 Reviewed By Expert Panel
 rs_1881803464

4 SubmittersRCV001338819RCV001266076RCV003235523
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu) SNV
Germline		 ChrX:154031357 Pathogenic/Likely pathogenic Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_267608484

2 SubmittersRCV001328391RCV001863184
NM_001110792.2(MECP2):c.465A>G (p.Glu155=) SNV
Germline		 ChrX:154031399 Conflicting classifications of pathogenicity Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly		 Criteria Provided
Conflicting Classifications
 rs_2065960775

2 SubmittersRCV001331333RCV003523092
NM_005249.5(FOXG1):c.811G>A (p.Gly271Ser) SNV
Germline		 Chr14:28768090 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_1881809272

1 SubmittersRCV001334376
NM_005249.5(FOXG1):c.645C>A (p.Phe215Leu) SNV
Germline		 Chr14:28767924 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_1057518165

1 SubmittersRCV001379557
NM_005249.5(FOXG1):c.469A>T (p.Lys157Ter) SNV
Germline		 Chr14:28767748 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_2138660947

1 SubmittersRCV001382621
NM_005249.5(FOXG1):c.654C>A (p.Tyr218Ter) SNV
Germline		 Chr14:28767933 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_2138661305

1 SubmittersRCV001386551
NM_001110792.2(MECP2):c.398A>T (p.Asp133Val) SNV
Germline		 ChrX:154032222 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 rs_61755762

1 SubmittersRCV001420143
NM_005249.5(FOXG1):c.95A>G (p.Asn32Ser) SNV
Germline		 Chr14:28767374 Conflicting classifications of pathogenicity Rett syndrome, congenital variant
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_1429160286

2 SubmittersRCV001483325RCV002562686
NM_005249.5(FOXG1):c.559A>G (p.Asn187Asp) SNV
Germline		 Chr14:28767838 Pathogenic Rett syndrome, congenital variant Criteria Provided
Multiple Submitters
No Conflicts
 rs_2138661139

2 SubmittersRCV001775218
NM_001110792.2(MECP2):c.1138C>T (p.His380Tyr) SNV
Germline		 ChrX:154030726 Conflicting classifications of pathogenicity Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
MECP2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_781968415

3 SubmittersRCV001784168RCV003638811RCV004536310
NM_005249.5(FOXG1):c.430G>T (p.Glu144Ter) SNV
Germline		 Chr14:28767709 Pathogenic Rett syndrome, congenital variant
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_797045583

2 SubmittersRCV001785284RCV004558648
NM_005249.5(FOXG1):c.517G>T (p.Glu173Ter) SNV
Germline		 Chr14:28767796 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_2138661070

1 SubmittersRCV001785287
NM_005249.5(FOXG1):c.543G>C (p.Lys181Asn) SNV
Germline		 Chr14:28767822 Pathogenic Rett syndrome, congenital variant Criteria Provided
Multiple Submitters
No Conflicts
 rs_767961672

2 SubmittersRCV001785288
NM_005249.5(FOXG1):c.545C>A (p.Pro182Gln) SNV
Germline		 Chr14:28767824 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_796052461

1 SubmittersRCV001785289
NM_005249.5(FOXG1):c.565C>T (p.Leu189Phe) SNV
Germline		 Chr14:28767844 Pathogenic Rett syndrome, congenital variant
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555321308

2 SubmittersRCV001785291RCV003120688
NM_005249.5(FOXG1):c.572T>G (p.Met191Arg) SNV
Germline		 Chr14:28767851 Likely pathogenic Rett syndrome, congenital variant
FOXG1 disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2138661161

2 SubmittersRCV001785292RCV004558650
NM_005249.5(FOXG1):c.581T>G (p.Ile194Ser) SNV
Germline		 Chr14:28767860 Likely pathogenic Rett syndrome, congenital variant
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2138661171

2 SubmittersRCV001785293RCV003442906
NM_005249.5(FOXG1):c.755G>A (p.Gly252Asp) SNV
Germline		 Chr14:28768034 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_587783640

1 SubmittersRCV001785297
NM_005249.5(FOXG1):c.921C>G (p.Tyr307Ter) SNV
Germline		 Chr14:28768200 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_2138661742

1 SubmittersRCV001785299
NM_005249.5(FOXG1):c.602G>C (p.Arg201Pro) SNV
Germline		 Chr14:28767881 Pathogenic/Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Multiple Submitters
No Conflicts
 rs_2138661213

2 SubmittersRCV001806440
NM_005249.5(FOXG1):c.635T>C (p.Met212Thr) SNV
Germline		 Chr14:28767914 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_2138661267

1 SubmittersRCV001843410
NM_005249.5(FOXG1):c.578C>A (p.Ala193Asp) SNV
Germline		 Chr14:28767857 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_2138661170

1 SubmittersRCV002037016
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val) SNV
Germline		 ChrX:154030927 Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly
Rett syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_1557136251

4 SubmittersRCV001928901RCV002466274RCV002558489
NM_005249.5(FOXG1):c.532A>T (p.Lys178Ter) SNV
Germline		 Chr14:28767811 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_2138661094

1 SubmittersRCV001994787
NM_005249.5(FOXG1):c.821G>C (p.Arg274Pro) SNV
Germline		 Chr14:28768100 Pathogenic Rett syndrome, congenital variant Criteria Provided
Multiple Submitters
No Conflicts
 rs_869312700

2 SubmittersRCV002002475
NM_005249.5(FOXG1):c.692A>G (p.His231Arg) SNV
Germline		 Chr14:28767971 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_2138661375

1 SubmittersRCV002051440
NM_005249.5(FOXG1):c.587A>C (p.Gln196Pro) SNV
Germline		 Chr14:28767866 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_2138661191

1 SubmittersRCV001928048
NM_005249.5(FOXG1):c.1058A>G (p.Asn353Ser) SNV
Germline		 Chr14:28768337 Conflicting classifications of pathogenicity Rett syndrome, congenital variant Criteria Provided
Conflicting Classifications
 rs_749879411

2 SubmittersRCV002166653
NM_005249.5(FOXG1):c.1123G>A (p.Ala375Thr) SNV
Germline		 Chr14:28768402 Conflicting classifications of pathogenicity Rett syndrome, congenital variant Criteria Provided
Conflicting Classifications
 rs_1594384127

2 SubmittersRCV002204274
NM_001110792.2(MECP2):c.434G>C (p.Arg145Pro) SNV
Germline		 ChrX:154031430 Pathogenic/Likely pathogenic Rett syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_61748389

2 SubmittersRCV002226590
NM_001110792.2(MECP2):c.1072A>C (p.Ser358Arg) SNV
Germline		 ChrX:154030792 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter
 rs_2148661474

1 SubmittersRCV002226994
NM_005249.5(FOXG1):c.619A>T (p.Ile207Phe) SNV
Germline		 Chr14:28767898 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter
 rs_2138661244

1 SubmittersRCV002271869
NM_005249.5(FOXG1):c.568A>T (p.Ile190Phe) SNV
Germline		 Chr14:28767847 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV002283610
NM_005249.5(FOXG1):c.298C>T (p.Gln100Ter) SNV
Germline		 Chr14:28767577 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV002283676
NM_005249.5(FOXG1):c.680A>G (p.Asn227Ser) SNV
Unknown		 Chr14:28767959 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV002286508
NM_005249.5(FOXG1):c.604C>T (p.Leu202Phe) SNV
Germline		 Chr14:28767883 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV002468862
NM_005249.5(FOXG1):c.706A>G (p.Asn236Asp) SNV
Germline		 Chr14:28767985 Conflicting classifications of pathogenicity Condition: not provided
Rett syndrome, congenital variant		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002511307RCV003514595
NM_005249.5(FOXG1):c.475G>A (p.Ala159Thr) SNV
Germline		 Chr14:28767754 Conflicting classifications of pathogenicity Rett syndrome, congenital variant
FOXG1-related disorder		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002578714RCV003395493
NM_005249.5(FOXG1):c.791T>G (p.Val264Gly) SNV
Germline		 Chr14:28768070 Pathogenic/Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002791502
NM_005249.5(FOXG1):c.439A>T (p.Lys147Ter) SNV
Germline		 Chr14:28767718 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV002820472
NM_005249.5(FOXG1):c.499G>T (p.Glu167Ter) SNV
Germline		 Chr14:28767778 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV002829846
NM_005249.5(FOXG1):c.208C>T (p.Gln70Ter) SNV
Germline		 Chr14:28767487 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV003030002
NM_005249.5(FOXG1):c.797T>C (p.Ile266Thr) SNV
Germline		 Chr14:28768076 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV003027664
NM_005249.5(FOXG1):c.637A>T (p.Lys213Ter) SNV
Germline		 Chr14:28767916 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV002810039
NM_005249.5(FOXG1):c.578C>T (p.Ala193Val) SNV
Germline		 Chr14:28767857 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV003127319
NM_005249.5(FOXG1):c.748G>A (p.Gly250Ser) SNV
Germline		 Chr14:28768027 Conflicting classifications of pathogenicity Condition: not provided
Rett syndrome, congenital variant		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003152193RCV003514609
NM_001110792.2(MECP2):c.1402G>T (p.Gly468Ter) SNV
Unknown		 ChrX:154030462 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003152914
NM_001110792.2(MECP2):c.386C>G (p.Ala129Gly) SNV
Germline		 ChrX:154032234 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003155620
NM_005249.5(FOXG1):c.800G>A (p.Gly267Asp) SNV
Germline		 Chr14:28768079 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003335827
NM_005249.5(FOXG1):c.1337A>T (p.Gln446Leu) SNV
Germline		 Chr14:28768616 Conflicting classifications of pathogenicity Inborn genetic diseases
Rett syndrome, congenital variant		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003376844RCV003629270
NM_005249.5(FOXG1):c.676C>G (p.Gln226Glu) SNV
Germline		 Chr14:28767955 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV003387604
NM_005249.5(FOXG1):c.847A>T (p.Lys283Ter) SNV
Germline		 Chr14:28768126 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV003388729
NM_001110792.2(MECP2):c.715C>T (p.Gln239Ter) SNV
Germline		 ChrX:154031149 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003389417
NM_001110792.2(MECP2):c.413A>T (p.Asn138Ile) SNV
Germline		 ChrX:154032207 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003484978
NM_001110792.2(MECP2):c.950A>C (p.Lys317Thr) SNV
Germline		 ChrX:154030914 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003484979
NM_001110792.2(MECP2):c.647C>A (p.Ser216Ter) SNV
Germline		 ChrX:154031217 Pathogenic Rett syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003484980
NM_005249.5(FOXG1):c.683C>G (p.Ser228Cys) SNV
Germline		 Chr14:28767962 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV003494088
NM_005249.5(FOXG1):c.981C>A (p.Tyr327Ter) SNV
Germline		 Chr14:28768260 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV003516363
NM_005249.5(FOXG1):c.673T>G (p.Trp225Gly) SNV
Germline		 Chr14:28767952 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV003631055
NM_005249.5(FOXG1):c.765G>C (p.Trp255Cys) SNV
Germline		 Chr14:28768044 Pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV003883314
NM_001110792.2(MECP2):c.450G>C (p.Leu150Phe) SNV
Germline		 ChrX:154031414 Pathogenic Severe neonatal-onset encephalopathy with microcephaly
X-linked intellectual disability-psychosis-macroorchidism syndrome
Syndromic X-linked intellectual disability Lubs type
Rett syndrome
Autism, susceptibility to, X-linked 3		 Criteria Provided
Single Submitter

1 SubmittersRCV003883344
NM_005249.5(FOXG1):c.643T>A (p.Phe215Ile) SNV
Unknown		 Chr14:28767922 Likely pathogenic Rett syndrome, congenital variant Criteria Provided
Single Submitter

1 SubmittersRCV003885406
NM_001110792.2(MECP2):c.703A>T (p.Lys235Ter) SNV
Germline		 ChrX:154031161 Pathogenic Rett syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991397
NM_001110792.2(MECP2):c.491C>T (p.Pro164Leu) SNV
Germline		 ChrX:154031373 Likely pathogenic Rett syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991418