MECP2 — 1701 ClinVar variants

All ClinVar germline MECP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 406 flagged for review →

318 Pathogenic · 54 Pathogenic/Likely pathogenic · 187 Likely pathogenic · 54 Conflicting · 153 Benign · 82 Benign/Likely benign · 349 Likely benign · 504 Uncertain significance

Full MECP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 406

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 9

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

MECP2 p.Ala291Val Likely pathogenic Expert panel
Rett syndrome
MECP2 p.Pro229Leu Likely pathogenic Expert panel
Rett syndrome
MECP2 p.Gln140Lys Likely pathogenic Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gly7Glu Pathogenic Multiple submitters
Rett syndrome
MECP2 p.Pro334Ala Pathogenic/Likely pathogenic Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gly72Ser Pathogenic Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ser77Leu Pathogenic Single submitter
Rett syndrome
MECP2 p.Thr255Pro Likely pathogenic Single submitter
MECP2-related disorder
MECP2 p.Val474Ile Likely pathogenic Single submitter

Predictors agree, ClinVar conflicts 25

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

MECP2 p.Ala290Val Conflicting Single submitter
MECP2-related disorder
MECP2 p.Ala299Val Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ala370Val Conflicting Single submitter
Inborn genetic diseases
MECP2 p.Gly126Ala Conflicting Single submitter
syndromic X-linked intellectual disability Lubs type
MECP2 p.Ile260Met Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Lys364Arg Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro184Ala Conflicting Single submitter
Inborn genetic diseases
MECP2 p.Pro184Thr Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro211Thr Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro334Ser Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro373His Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro374Leu Conflicting Single submitter
Inborn genetic diseases
MECP2 p.Pro391Leu Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro415Ala Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro415Ser Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro442Leu Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ser304Cys Conflicting Single submitter
Inborn genetic diseases
MECP2 p.Ser385Pro Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ser387Phe Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ser413Asn Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Thr172Ser Conflicting Single submitter
MECP2-related disorder
MECP2 p.Thr196Ser Conflicting Single submitter
autism, susceptibility to, X-linked 3
MECP2 p.Val312Ile Conflicting Single submitter
syndromic X-linked intellectual disability Lubs type
MECP2 p.Val424Ala Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Val424Gly Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly

Predictors lean, ClinVar uncertain 236

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 236

MECP2 p.Arg127Cys Uncertain significance Expert panel
Rett syndrome
MECP2 p.Arg179Pro Uncertain significance Expert panel
Rett syndrome
MECP2 p.Arg202Cys Uncertain significance Expert panel
Rett syndrome
MECP2 p.Arg280Trp Uncertain significance Expert panel
Rett syndrome
MECP2 p.Arg366His Uncertain significance Expert panel
Rett syndrome
MECP2 p.Arg97Cys Uncertain significance Expert panel
Rett syndrome
MECP2 p.Cys425Arg Uncertain significance Expert panel
Rett syndrome
MECP2 p.Gln239Glu Uncertain significance Expert panel
Rett syndrome
MECP2 p.Gly81Val Uncertain significance Expert panel
Rett syndrome
MECP2 p.His63Gln Uncertain significance Expert panel
Rett syndrome
MECP2 p.Lys343Arg Uncertain significance Expert panel
Rett syndrome
MECP2 p.Ser82Pro Uncertain significance Expert panel
Rett syndrome
MECP2 p.Thr111Pro Uncertain significance Expert panel
Rett syndrome
MECP2 p.Ala275Gly Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ala289Val Uncertain significance Multiple submitters
Inborn genetic diseases
MECP2 p.Ala453Thr Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ala83Val Uncertain significance Multiple submitters
Inborn genetic diseases
MECP2 p.Arg103Gln Uncertain significance Multiple submitters
Rett syndrome
MECP2 p.Arg103Trp Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Arg96Trp Uncertain significance Multiple submitters
MECP2-related disorder
MECP2 p.Gln274Glu Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gln31Glu Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Glu23Gly Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Glu330Ala Uncertain significance Multiple submitters
Rett syndrome
MECP2 p.Glu360Asp Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gly115Asp Uncertain significance Multiple submitters
Rett syndrome
MECP2 p.Gly249Ser Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gly249Val Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gly53Ser Uncertain significance Multiple submitters
MECP2 p.Gly79Val Uncertain significance Multiple submitters
Inborn genetic diseases
MECP2 p.Leu150Ser Uncertain significance Multiple submitters
Rett syndrome
MECP2 p.Leu30Phe Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Leu336Val Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Lys298Arg Uncertain significance Multiple submitters
Rett syndrome
MECP2 p.Lys333Glu Uncertain significance Multiple submitters
Rett syndrome
MECP2 p.Lys471Arg Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Lys51Arg Uncertain significance Multiple submitters
Inborn genetic diseases
MECP2 p.Met430Val Uncertain significance Multiple submitters
MECP2-related disorder
MECP2 p.Pro184Ser Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro191Ala Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro194Ser Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro229Ser Uncertain significance Multiple submitters
Rett syndrome
MECP2 p.Pro242Thr Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro363Leu Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro388Arg Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro403Thr Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ser286Gly Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ser303Cys Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ser307Cys Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ser344Asn Uncertain significance Multiple submitters
Inborn genetic diseases
MECP2 p.Ser407Gly Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Thr350Ser Uncertain significance Multiple submitters
syndromic X-linked intellectual disability Lubs type
MECP2 p.Thr454Ala Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Thr457Met Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Val219Met Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Val331Met Uncertain significance Multiple submitters
syndromic X-linked intellectual disability Lubs type
MECP2 p.Ala143Gly Uncertain significance Single submitter
MECP2 p.Ala193Gly Uncertain significance Single submitter
MECP2 p.Ala193Ser Uncertain significance Single submitter
MECP2 p.Ala193Val Uncertain significance Single submitter
Rett syndrome
MECP2 p.Ala246Asp Uncertain significance Single submitter
MECP2 p.Ala246Val Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ala251Val Uncertain significance Single submitter
MECP2 p.Ala269Val Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ala271Ser Uncertain significance Single submitter
MECP2-related disorder
MECP2 p.Ala275Val Uncertain significance Single submitter
Inborn genetic diseases
MECP2 p.Ala291Ser Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ala291Thr Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ala370Ser Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ala390Asp Uncertain significance Single submitter
MECP2 p.Ala446Gly Uncertain significance Single submitter
MECP2 p.Ala456Val Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ala69Thr Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ala83Gly Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ala89Thr Uncertain significance Single submitter
MECP2 p.Ala91Ser Uncertain significance Single submitter
MECP2 p.Arg103Pro Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Arg200Gln Uncertain significance Single submitter
MECP2 p.Arg280Gln Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Arg282Gln Uncertain significance Single submitter
MECP2 p.Arg282Gly Uncertain significance Single submitter
Rett syndrome
MECP2 p.Arg356Gly Uncertain significance Single submitter
Rett syndrome
MECP2 p.Arg97His Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Asn138Asp Uncertain significance Single submitter
MECP2 p.Asn482Ile Uncertain significance Single submitter
MECP2 p.Asp102His Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Asp109Glu Uncertain significance Single submitter
Rett syndrome
MECP2 p.Asp159Asn Uncertain significance Single submitter
Rett syndrome
MECP2 p.Asp272Asn Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Asp27Glu Uncertain significance Single submitter
Inborn genetic diseases
MECP2 p.Asp410Ala Uncertain significance Single submitter
Rett syndrome
MECP2 p.Asp439Tyr Uncertain significance Single submitter
MECP2 p.Cys351Tyr Uncertain significance Single submitter
MECP2 p.Cys425Ser Uncertain significance Single submitter
MECP2-related disorder
MECP2 p.Gln220Arg Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gln220Pro Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gln274Arg Uncertain significance Single submitter
MECP2 p.Gln274His Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gln274Pro Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gln31His Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gln31Pro Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gln418Glu Uncertain significance Single submitter
MECP2 p.Glu155Gly Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Glu342Asp Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Glu377Gly Uncertain significance Single submitter
X-linked intellectual disability-psychosis-macroorchidism syndrome
MECP2 p.Glu386Ala Uncertain significance Single submitter
MECP2 p.Glu404Asp Uncertain significance Single submitter
MECP2 p.Glu406Asp Uncertain significance Single submitter
MECP2 p.Glu416Lys Uncertain significance Single submitter
Rett syndrome
MECP2 p.Glu428Asp Uncertain significance Single submitter
MECP2 p.Glu437Gln Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Glu444Gly Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Glu49Asp Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gly104Glu Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gly115Ser Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gly197Cys Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gly197Val Uncertain significance Single submitter
MECP2 p.Gly243Ala Uncertain significance Single submitter
MECP2 p.Gly244Asp Uncertain significance Single submitter
MECP2 p.Gly281Ser Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gly433Arg Uncertain significance Single submitter
MECP2-related disorder
MECP2 p.Gly466Ala Uncertain significance Single submitter
MECP2 p.Gly468Ala Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gly468Val Uncertain significance Single submitter
MECP2 p.His378Asp Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.His378Gln Uncertain significance Single submitter
MECP2 p.His378Tyr Uncertain significance Single submitter
MECP2 p.His379Arg Uncertain significance Single submitter
MECP2 p.His380Gln Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.His382Gln Uncertain significance Single submitter
Rett syndrome
MECP2 p.His384Gln Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.His384Pro Uncertain significance Single submitter
MECP2 p.His464Gln Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ile276Val Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ile305Val Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ile326Met Uncertain significance Single submitter
Inborn genetic diseases
MECP2 p.Leu112Arg Uncertain significance Single submitter
Rett syndrome
MECP2 p.Leu120Phe Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Leu30Val Uncertain significance Single submitter
MECP2 p.Leu348Pro Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Leu38Phe Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Leu38Val Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Leu394Val Uncertain significance Single submitter
Inborn genetic diseases
MECP2 p.Leu395Pro Uncertain significance Single submitter
Rett syndrome
MECP2 p.Leu420Phe Uncertain significance Single submitter
MECP2 p.Lys142Glu Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Lys183Gln Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Lys186Gln Uncertain significance Single submitter
autism spectrum disorder
MECP2 p.Lys186Thr Uncertain significance Single submitter
MECP2 p.Lys192Asn Uncertain significance Single submitter

Predictors split 136

The independent predictors disagree with each other — read with care.

MECP2 p.Arg267Pro Pathogenic Expert panel
Rett syndrome
MECP2 p.Arg318Cys Pathogenic Expert panel
Rett syndrome
MECP2 p.Arg321Trp Pathogenic Expert panel
Rett syndrome
MECP2 p.Arg356Trp Benign Expert panel
Rett syndrome
MECP2 p.Arg483Thr Uncertain significance Expert panel
Rett syndrome
MECP2 p.Arg490Gln Likely benign Expert panel
Rett syndrome
MECP2 p.Glu495Lys Benign Expert panel
Rett syndrome
MECP2 p.Gly218Ala Benign Expert panel
Rett syndrome
MECP2 p.Leu313Val Uncertain significance Expert panel
Rett syndrome
MECP2 p.Lys316Arg Pathogenic Expert panel
Rett syndrome
MECP2 p.Lys316Asn Pathogenic Expert panel
Rett syndrome
MECP2 p.Lys316Glu Likely pathogenic Expert panel
Rett syndrome
MECP2 p.Pro185Thr Uncertain significance Expert panel
Rett syndrome
MECP2 p.Pro188His Likely benign Expert panel
Rett syndrome
MECP2 p.Pro314Leu Pathogenic Expert panel
Rett syndrome
MECP2 p.Pro399Leu Benign Expert panel
Rett syndrome
MECP2 p.Pro400Ser Benign Expert panel
Rett syndrome
MECP2 p.Ser190Cys Likely benign Expert panel
Rett syndrome
MECP2 p.Thr323Met Benign Expert panel
Rett syndrome
MECP2 p.Val493Met Likely benign Expert panel
Rett syndrome
MECP2 p.Arg318His Pathogenic/Likely pathogenic Multiple submitters
MECP2-related disorder
MECP2 p.Arg318Leu Pathogenic/Likely pathogenic Multiple submitters
Rett syndrome
MECP2 p.Arg318Pro Pathogenic/Likely pathogenic Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Arg496Thr Benign/Likely benign Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Asp159Glu Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Glu155Lys Uncertain significance Multiple submitters
Rett syndrome
MECP2 p.Glu485Gln Uncertain significance Multiple submitters
X-linked intellectual disability-psychosis-macroorchidism syndrome
MECP2 p.Glu495Asp Benign/Likely benign Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Gly264Ser Uncertain significance Multiple submitters
Inborn genetic diseases
MECP2 p.Gly466Arg Uncertain significance Multiple submitters
MECP2 p.Ile315Met Likely pathogenic Multiple submitters
Rett syndrome
MECP2 p.Ile315Ser Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Lys222Glu Uncertain significance Multiple submitters
Inborn genetic diseases
MECP2 p.Lys316Gln Pathogenic/Likely pathogenic Multiple submitters
Rett syndrome
MECP2 p.Lys317Arg Pathogenic/Likely pathogenic Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Lys317Asn Likely pathogenic Multiple submitters
focal epilepsy
MECP2 p.Phe238Leu Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro188Leu Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro191Ser Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro237Arg Pathogenic Multiple submitters
MECP2-related disorder
MECP2 p.Pro237Leu Likely pathogenic Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro237Thr Pathogenic/Likely pathogenic Multiple submitters
Rett syndrome
MECP2 p.Pro314Ala Pathogenic Multiple submitters
X-linked intellectual disability-psychosis-macroorchidism syndrome
MECP2 p.Pro314Arg Pathogenic/Likely pathogenic Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro314His Pathogenic Multiple submitters
MECP2-related disorder
MECP2 p.Pro314Ser Pathogenic/Likely pathogenic Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro397His Likely benign Multiple submitters
Inborn genetic diseases
MECP2 p.Pro399Ser Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro400Ala Benign/Likely benign Multiple submitters
Inborn genetic diseases
MECP2 p.Ser358Arg Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ser92Phe Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Val224Asp Uncertain significance Multiple submitters
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ala143Pro Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ala143Val Uncertain significance Single submitter
MECP2 p.Ala251Asp Conflicting Single submitter
Rett syndrome
MECP2 p.Ala291Gly Benign Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ala293Gly Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ala295Asp Uncertain significance Single submitter
MECP2 p.Ala299Asp Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Arg180Gly Likely pathogenic Single submitter
Inborn genetic diseases
MECP2 p.Arg180Pro Uncertain significance Single submitter
MECP2 p.Arg223Gly Uncertain significance Single submitter
MECP2 p.Arg223Ser Likely benign Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Arg321Gln Likely pathogenic Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Arg321Gly Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Arg480Thr Benign Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Arg96Gln Uncertain significance Single submitter
MECP2 p.Asn138Ser Uncertain significance Single submitter
Rett syndrome
MECP2 p.Asp472His Benign Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Asp472Tyr Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Asp488Gly Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Glu155Ala Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Glu181Gly Conflicting Single submitter
MECP2-related disorder
MECP2 p.Glu226Gly Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Glu327Lys Uncertain significance Single submitter
MECP2 p.Glu467Lys Uncertain significance Single submitter
Inborn genetic diseases
MECP2 p.Glu469Lys Uncertain significance Single submitter
Inborn genetic diseases
MECP2 p.Gly195Arg Likely benign Single submitter
Rett syndrome
MECP2 p.Gly218Asp Uncertain significance Single submitter
Rett syndrome
MECP2 p.Gly285Glu Uncertain significance Single submitter
MECP2 p.Gly365Arg Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.His380Asn Uncertain significance Single submitter
MECP2 p.His380Asp Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.His380Tyr Conflicting Single submitter
Inborn genetic diseases
MECP2 p.His381Tyr Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.His382Tyr Uncertain significance Single submitter
MECP2 p.His383Asp Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.His383Tyr Uncertain significance Single submitter
syndromic X-linked intellectual disability Lubs type
MECP2 p.Ile315Val Likely pathogenic Single submitter
MECP2 p.Leu120Val Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Leu313Phe Pathogenic Single submitter
MECP2 p.Lys119Arg Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Lys142Arg Benign Single submitter
Rett syndrome
MECP2 p.Lys156Arg Uncertain significance Single submitter
Rett syndrome
MECP2 p.Lys222Ile Uncertain significance Single submitter
Rett syndrome
MECP2 p.Lys227Gln Uncertain significance Single submitter
MECP2 p.Lys296Glu Uncertain significance Single submitter
Rett syndrome
MECP2 p.Lys297Asn Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Lys297Thr Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Lys298Glu Uncertain significance Single submitter
obesity disorder
MECP2 p.Lys317Glu Likely pathogenic Single submitter
Rett syndrome
MECP2 p.Lys317Thr Likely pathogenic Single submitter
Rett syndrome
MECP2 p.Lys319Asn Likely pathogenic Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Lys319Glu Likely pathogenic Single submitter
MECP2 p.Lys375Asn Likely benign Single submitter
MECP2 p.Lys471Thr Likely benign Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Met236Ile Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Met236Lys Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Phe154Leu Uncertain significance Single submitter
MECP2 p.Pro105Ser Conflicting Single submitter
X-linked MECP2-related disorders
MECP2 p.Pro188Ala Likely benign Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro188Ser Conflicting Single submitter
Inborn genetic diseases
MECP2 p.Pro191Leu Uncertain significance Single submitter
MECP2 p.Pro263Arg Uncertain significance Single submitter
Rett syndrome
MECP2 p.Pro273Arg Conflicting Single submitter
syndromic X-linked intellectual disability Lubs type
MECP2 p.Pro314Thr Likely pathogenic Single submitter
Rett syndrome
MECP2 p.Pro334His Uncertain significance Single submitter
MECP2 p.Pro397Arg Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro397Thr Likely benign Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro399Thr Conflicting Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro400Thr Uncertain significance Single submitter
Rett syndrome
MECP2 p.Pro401Arg Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Pro401Ser Uncertain significance Single submitter
MECP2 p.Ser367Arg Uncertain significance Single submitter
Rett syndrome
MECP2 p.Ser476Phe Likely benign Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Ser82Cys Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Thr160Arg Uncertain significance Single submitter
Inborn genetic diseases
MECP2 p.Thr311Ile Uncertain significance Single submitter
MECP2 p.Thr320Ile Conflicting Single submitter
Rett syndrome
MECP2 p.Thr320Ser Uncertain significance Single submitter
MECP2 p.Tyr132Cys Pathogenic Single submitter
MECP2 p.Val134Ala Uncertain significance Single submitter
Rett syndrome
MECP2 p.Val312Leu Uncertain significance Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Val497Leu Likely benign Single submitter
severe neonatal-onset encephalopathy with microcephaly
MECP2 p.Glu155Asp Uncertain significance No assertion criteria
MECP2-related disorder
MECP2 p.Leu232Val Uncertain significance No assertion criteria
X-linked intellectual disability-psychosis-macroorchidism syndrome

All MECP2 variants

Pathogenic 318

Showing the top 300 by review status; the full set is in the sitemap.

c.414-3C>G Expert panel Rett syndrome
c.62+1G>A Expert panel Rett syndrome
c.62+2T>G Expert panel Rett syndrome
p.Ala143Asp Expert panel Rett syndrome
p.Arg127His Expert panel Rett syndrome
p.Arg145Cys Expert panel Rett syndrome
p.Arg145His Expert panel Rett syndrome
p.Arg145Leu Expert panel Rett syndrome
p.Arg179Trp Expert panel Rett syndrome
p.Arg267Pro Expert panel Rett syndrome ⚠
p.Arg306Ter Expert panel Rett syndrome
p.Arg318Cys Expert panel Rett syndrome ⚠
p.Arg321Trp Expert panel Rett syndrome ⚠
p.Asp168Gly Expert panel Rett syndrome
p.Gly281fs Expert panel Rett syndrome
p.Leu112Val Expert panel Rett syndrome
p.Leu136Phe Expert panel Rett syndrome
p.Lys147Glu Expert panel Rett syndrome
p.Lys316Arg Expert panel Rett syndrome ⚠
p.Lys316Asn Expert panel Rett syndrome ⚠
p.Pro113Arg Expert panel Rett syndrome
p.Pro113Ser Expert panel Rett syndrome
p.Pro139Leu Expert panel Rett syndrome
p.Pro164Arg Expert panel Rett syndrome
p.Pro314Leu Expert panel Rett syndrome ⚠
p.Pro334Leu Expert panel Rett syndrome
p.Ser146Phe Expert panel Rett syndrome
p.Ter499Trp Expert panel Rett syndrome
p.Thr170Ala Expert panel Rett syndrome
p.Val134Met Expert panel Rett syndrome
p.Val392fs Expert panel Rett syndrome
c.413+1G>T Multiple submitters Rett syndrome
c.63-2A>G Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Arg180Ter Multiple submitters MECP2-related disorder
p.Arg282fs Multiple submitters syndromic X-linked intellectual disability Lubs type
p.Arg282Ter Multiple submitters MECP2-related disorder
p.Arg356fs Multiple submitters Rett syndrome
p.Arg465Ter Multiple submitters Rett syndrome
p.Arg496fs Multiple submitters Rett syndrome
p.Asn138fs Multiple submitters MECP2-related disorder
p.Asp46fs Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Gln140Ter Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Gln182Ter Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Gln220Ter Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Gln256Ter Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Gln274Ter Multiple submitters MECP2-related disorder
p.Gln28fs Multiple submitters Rett syndrome
p.Gln28Ter Multiple submitters Rett syndrome
p.Gln309Ter Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Gln31Ter Multiple submitters Inborn genetic diseases
p.Gln418Ter Multiple submitters MECP2-related disorder
p.Gln449fs Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Glu181Ter Multiple submitters Rett syndrome
p.Glu18fs Multiple submitters Rett syndrome
p.Glu406fs Multiple submitters Rett syndrome
p.Glu75fs Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Gly16= Multiple submitters Inborn genetic diseases
p.Gly16fs Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Gly244fs Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Gly249fs Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Gly7Glu Multiple submitters Rett syndrome ⚠
p.His384fs Multiple submitters Inborn genetic diseases
p.Leu38fs Multiple submitters X-linked intellectual disability-psychosis-macroorchidism syndrome
p.Lys245fs Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro237Arg Multiple submitters MECP2-related disorder ⚠
p.Pro314Ala Multiple submitters X-linked intellectual disability-psychosis-macroorchidism syndrome ⚠
p.Pro314His Multiple submitters MECP2-related disorder ⚠
p.Pro391fs Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro396_Pro397insTer Multiple submitters Inborn genetic diseases
p.Pro400fs Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro400Ter Multiple submitters Inborn genetic diseases
p.Pro402fs Multiple submitters Inborn genetic diseases
p.Ser25Ter Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ser286fs Multiple submitters Rett syndrome
p.Ser372Ter Multiple submitters Rett syndrome
p.Ser385Ter Multiple submitters Rett syndrome
p.Thr111fs Multiple submitters Rett syndrome
p.Tyr153Cys Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Tyr153Ter Multiple submitters MECP2-related disorder
c.1276_*113del299ins3 Single submitter Rett syndrome
c.27-4722_*112delinsCACTTTGTG Single submitter Rett syndrome
c.27-5774_902delinsGTGCCCGGACTGATGTCA Single submitter Rett syndrome
c.27-6026_1190delinsGT Single submitter Rett syndrome
c.384_1164del Single submitter Rett syndrome
c.413+1G>A Single submitter Rett syndrome
c.413+2T>G Single submitter Rett syndrome
c.414-2A>C Single submitter Rett syndrome
c.414-2A>G Single submitter Rett syndrome
c.414-2A>T Single submitter Rett syndrome
c.414-3_419del Single submitter severe neonatal-onset encephalopathy with microcephaly
c.62+2T>A Single submitter
c.63-1928_1277del Single submitter severe neonatal-onset encephalopathy with microcephaly
c.63-2890_517del Single submitter Epileptic encephalopathy
c.63-3928_1220del Single submitter Rett syndrome
c.63-4487_1204del Single submitter severe neonatal-onset encephalopathy with microcephaly
c.63-5778_1174del Single submitter severe neonatal-onset encephalopathy with microcephaly
c.63-6214_1227del Single submitter Rett syndrome
c.63-7080_1196del Single submitter severe neonatal-onset encephalopathy with microcephaly
c.63-73_1087del Single submitter Rett syndrome
c.63-94_1243del Single submitter Rett syndrome
c.943_1140del198ins6 Single submitter Rett syndrome
p.Ala143fs Single submitter Rett syndrome
p.Ala246fs Single submitter Rett syndrome
p.Ala289fs Single submitter Rett syndrome
p.Ala299fs Single submitter Rett syndrome
p.Ala451fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala453fs Single submitter Rett syndrome
p.Ala83fs Single submitter
p.Ala85fs Single submitter Rett syndrome
p.Ala8fs Single submitter Rett syndrome
p.Arg118fs Single submitter Rett syndrome
p.Arg127_Glu406del Single submitter Rett syndrome
p.Arg198Ter Single submitter
p.Arg202fs Single submitter Rett syndrome
p.Arg20fs Single submitter Rett syndrome
p.Arg210Ter Single submitter Rett syndrome
p.Arg265fs Single submitter Rett syndrome
p.Arg267fs Single submitter Rett syndrome
p.Arg366_Glu409delinsLeuTer Single submitter Inborn genetic diseases
p.Asp272fs Single submitter Rett syndrome
p.Asp27fs Single submitter Rett syndrome
p.Asp29fs Single submitter Rett syndrome
p.Asp439delinsArgHisTer Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Cys425_Ter499delinsXaa Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gln122fs Single submitter Rett syndrome
p.Gln140fs Single submitter Rett syndrome
p.Gln220fs Single submitter Rett syndrome
p.Gln239fs Single submitter Rett syndrome
p.Gln274fs Single submitter Rett syndrome
p.Gln95Ter Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu149_Leu398del Single submitter Rett syndrome
p.Glu217fs Single submitter Inborn genetic diseases
p.Glu217Ter Single submitter Rett syndrome
p.Glu226fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu270fs Single submitter Rett syndrome
p.Glu302fs Single submitter Rett syndrome
p.Glu330fs Single submitter Rett syndrome
p.Glu342fs Single submitter Rett syndrome
p.Glu404fs Single submitter Rett syndrome
p.Glu406Ter Single submitter Rett syndrome
p.Glu409Ter Single submitter Rett syndrome
p.Glu416fs Single submitter
p.Glu444fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu467fs Single submitter Rett syndrome
p.Glu467Ter Single submitter Rett syndrome
p.Glu485fs Single submitter
p.Glu52fs Single submitter Rett syndrome
p.Glu70Ter Single submitter
p.Glu78fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly126_Ser128del Single submitter Rett syndrome
p.Gly130Glu Single submitter Rett syndrome
p.Gly141Ter Single submitter
p.Gly15fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly175_Ser408del Single submitter Rett syndrome
p.Gly175fs Single submitter Rett syndrome
p.Gly201fs Single submitter Rett syndrome
p.Gly201Ter Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly207fs Single submitter X-linked intellectual disability-psychosis-macroorchidism syndrome
p.Gly230fs Single submitter Rett syndrome
p.Gly285fs Single submitter Rett syndrome
p.Gly32fs Single submitter Rett syndrome
p.Gly341fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly345fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly347_Leu348insTer Single submitter MECP2-related disorder
p.Gly347_Pro403delinsAlaValTer Single submitter Rett syndrome
p.Gly355fs Single submitter Rett syndrome
p.Gly365fs Single submitter Rett syndrome
p.Gly53fs Single submitter
p.Gly72Ser Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.His382fs Single submitter Rett syndrome
p.Ile276fs Single submitter Rett syndrome
p.Ile99fs Single submitter Rett syndrome
p.Leu120fs Single submitter Rett syndrome
p.Leu150Phe Single submitter X-linked intellectual disability-psychosis-macroorchidism syndrome
p.Leu21fs Single submitter Rett syndrome
p.Leu313_Val324del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu313fs Single submitter MECP2-related disorder
p.Leu313Phe Single submitter ⚠
p.Leu336fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu340fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu348fs Single submitter
p.Leu394_Ter499delinsXaa Single submitter Rett syndrome
p.Leu394fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu395fs Single submitter Rett syndrome
p.Lys121Glu Single submitter
p.Lys124Ter Single submitter Rett syndrome
p.Lys156fs Single submitter Rett syndrome
p.Lys156Ter Single submitter Rett syndrome
p.Lys189Ter Single submitter Rett syndrome
p.Lys192Ter Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys212Ter Single submitter Rett syndrome
p.Lys231fs Single submitter Rett syndrome
p.Lys235Ter Single submitter Rett syndrome
p.Lys24fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys261Ter Single submitter
p.Lys266fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys268fs Single submitter Rett syndrome
p.Lys268Ter Single submitter Rett syndrome
p.Lys279Ter Single submitter Rett syndrome
p.Lys283fs Single submitter Rett syndrome
p.Lys283Ter Single submitter
p.Lys317del Single submitter X-linked intellectual disability-psychosis-macroorchidism syndrome
p.Lys317Ter Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys319_Arg321del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys319fs Single submitter Rett syndrome
p.Lys329fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys333fs Single submitter Rett syndrome
p.Lys343fs Single submitter Rett syndrome
p.Lys34Ter Single submitter Rett syndrome
p.Lys357Ter Single submitter
p.Lys359fs Single submitter Rett syndrome
p.Lys364fs Single submitter Rett syndrome
p.Lys375Ter Single submitter Rett syndrome
p.Lys376fs Single submitter Rett syndrome
p.Lys376Ter Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys426fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys443fs Single submitter
p.Lys47fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys48fs Single submitter Rett syndrome
p.Lys94fs Single submitter Rett syndrome
p.Lys94Ter Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Met1fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Met1Leu Single submitter Rett syndrome
p.Met236fs Single submitter Rett syndrome
p.Met258_Val259insTer Single submitter Rett syndrome
p.Met258fs Single submitter Rett syndrome
p.Phe169fs Single submitter Rett syndrome
p.Phe238fs Single submitter Rett syndrome
p.Pro113fs Single submitter syndromic X-linked intellectual disability Lubs type
p.Pro139fs Single submitter Rett syndrome
p.Pro164fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro194fs Single submitter Rett syndrome
p.Pro263fs Single submitter Rett syndrome
p.Pro354fs Single submitter Rett syndrome
p.Pro363_Ter499delinsXaa Single submitter Rett syndrome
p.Pro374fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro393fs Single submitter Rett syndrome
p.Pro396fs Single submitter Rett syndrome
p.Pro397_Glu409delinsGlnGlnAsnSerProProTer Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro397_Leu398insTer Single submitter Rett syndrome
p.Pro399_Ter499delinsXaa Single submitter Rett syndrome
p.Pro400_Gly440delinsGlnTer Single submitter Rett syndrome
p.Pro400_Pro401insTer Single submitter Rett syndrome
p.Pro401_Ser407delinsTer Single submitter Rett syndrome
p.Pro401fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro403fs Single submitter Rett syndrome
p.Pro411fs Single submitter Rett syndrome
p.Pro415_Glu416insTer Single submitter Rett syndrome
p.Pro415fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro60fs Single submitter Rett syndrome
p.Pro68fs Single submitter Rett syndrome
p.Pro84fs Single submitter Rett syndrome
p.Ser10fs Single submitter Rett syndrome
p.Ser206fs Single submitter Rett syndrome
p.Ser216Ter Single submitter Rett syndrome
p.Ser303fs Single submitter Rett syndrome
p.Ser304fs Single submitter Rett syndrome
p.Ser344_Ter499delinsXaa Single submitter MECP2-related disorder
p.Ser353fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser361_Pro411delinsArgCysLeuHisThrTer Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser362fs Single submitter Rett syndrome
p.Ser369fs Single submitter Rett syndrome
p.Ser371fs Single submitter
p.Ser372fs Single submitter Rett syndrome
p.Ser385fs Single submitter Rett syndrome
p.Ser407fs Single submitter Rett syndrome
p.Ser408fs Single submitter Rett syndrome
p.Ser413fs Single submitter Rett syndrome
p.Ser435_Leu436insTer Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser435fs Single submitter
p.Ser498fs Single submitter Rett syndrome
p.Ser61Ter Single submitter Rett syndrome
p.Ser77Leu Single submitter Rett syndrome ⚠
p.Ser90fs Single submitter Rett syndrome
p.Thr160_Pro397del Single submitter Rett syndrome
p.Thr160fs Single submitter Rett syndrome
p.Thr215fs Single submitter X-linked intellectual disability-psychosis-macroorchidism syndrome
p.Thr252fs Single submitter Rett syndrome
p.Thr253fs Single submitter Rett syndrome
p.Thr255fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Thr311fs Single submitter Rett syndrome
p.Thr454fs Single submitter Rett syndrome
p.Tyr132Cys Single submitter ⚠
p.Tyr132Ter Single submitter Rett syndrome
p.Tyr462fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Val257fs Single submitter Rett syndrome
p.Val287fs Single submitter Rett syndrome
p.Val300_Ser338del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Val300fs Single submitter Rett syndrome
p.Val312fs Single submitter Rett syndrome
p.Val324fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Val328_Glu416del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Val452fs Single submitter
p.Val497fs Single submitter Rett syndrome
p.Val58fs Single submitter
c.(?_1017 No assertion criteria Rett syndrome
c.(?_1044 No assertion criteria Rett syndrome
c.1101_(1396_? No assertion criteria Rett syndrome
c.(?_184 No assertion criteria Rett syndrome
c.(?_248 No assertion criteria Rett syndrome

Pathogenic/Likely pathogenic 54

c.62+2_62+3del Multiple submitters Rett syndrome
c.63-6C>G Multiple submitters Rett syndrome
p.Ala152Val Multiple submitters MECP2-related disorder
p.Ala291fs Multiple submitters Rett syndrome
p.Ala293fs Multiple submitters Rett syndrome
p.Ala2Val Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Arg118Gln Multiple submitters Inborn genetic diseases
p.Arg118Leu Multiple submitters Rett syndrome
p.Arg118Trp Multiple submitters MECP2-related disorder
p.Arg145Pro Multiple submitters Rett syndrome
p.Arg267Gly Multiple submitters intellectual disability
p.Arg267Ter Multiple submitters MECP2-related disorder
p.Arg318His Multiple submitters MECP2-related disorder ⚠
p.Arg318Leu Multiple submitters Rett syndrome ⚠
p.Arg318Pro Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gln140Pro Multiple submitters Inborn genetic diseases
p.Glu149Gly Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Glu386fs Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Glu484fs Multiple submitters Rett syndrome
p.Glu49fs Multiple submitters Angelman syndrome
p.Gly104fs Multiple submitters Rett syndrome
p.Gly173fs Multiple submitters Rett syndrome
p.Gly250fs Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Gly264fs Multiple submitters Rett syndrome
p.His381fs Multiple submitters
p.His383fs Multiple submitters Rett syndrome
p.Ile315fs Multiple submitters MECP2-related disorder
p.Leu33fs Multiple submitters Rett syndrome
p.Lys204Ter Multiple submitters Rett syndrome
p.Lys316Gln Multiple submitters Rett syndrome ⚠
p.Lys317Arg Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Phe169Leu Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro164Leu Multiple submitters Rett syndrome
p.Pro237Thr Multiple submitters Rett syndrome ⚠
p.Pro242fs Multiple submitters Rett syndrome
p.Pro314Arg Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro314Ser Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro334Ala Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro397fs Multiple submitters Inborn genetic diseases
p.Pro399_Pro400insTer Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro401_Pro417delinsTer Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro402_Pro403insTer Multiple submitters Rett syndrome
p.Pro403_Glu404insTer Multiple submitters MECP2-related disorder
p.Pro405fs Multiple submitters Rett syndrome
p.Pro417fs Multiple submitters Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome
p.Pro481fs Multiple submitters syndromic X-linked intellectual disability Lubs type
p.Ser146Cys Multiple submitters MECP2-related disorder
p.Ser241Ter Multiple submitters Rett syndrome
p.Ser77Ter Multiple submitters Rett syndrome
p.Ser80fs Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ser80Ter Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Thr170Met Multiple submitters autism, susceptibility to, X-linked 3
p.Trp116Ter Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Val224fs Multiple submitters severe neonatal-onset encephalopathy with microcephaly

Likely pathogenic 187

p.Ala291Val Expert panel Rett syndrome ⚠
p.Asp163Gly Expert panel Rett syndrome
p.Ile305_Ser362del Expert panel Rett syndrome
p.Lys316Glu Expert panel Rett syndrome ⚠
p.Phe169Ile Expert panel Rett syndrome
p.Pro164Ala Expert panel Rett syndrome
p.Pro229Leu Expert panel Rett syndrome ⚠
p.Arg118Gly Multiple submitters MECP2-related disorder
p.Arg123Lys Multiple submitters Rett syndrome
p.Arg145Ser Multiple submitters Inborn genetic diseases
p.Asp163Tyr Multiple submitters Rett syndrome
p.Gln140Lys Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Glu149Lys Multiple submitters MECP2-related disorder
p.Gly173Val Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ile315Met Multiple submitters Rett syndrome ⚠
p.Lys317Asn Multiple submitters focal epilepsy ⚠
p.Pro237Leu Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ter499Arg Multiple submitters Rett syndrome
p.Ter499Ser Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Thr170Arg Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Thr412fs Multiple submitters Rett syndrome
c.27-8916_1212del Single submitter severe neonatal-onset encephalopathy with microcephaly
c.413+2T>C Single submitter Rett syndrome
c.414-301_1107del Single submitter Rett syndrome
c.62+1G>C Single submitter
p.Ala129Gly Single submitter Rett syndrome
p.Ala213fs Single submitter Rett syndrome
p.Ala251fs Single submitter Rett syndrome
p.Ala269fs Single submitter Rett syndrome
p.Ala390fs Single submitter Rett syndrome
p.Ala456fs Single submitter Rett syndrome
p.Ala459fs Single submitter Rett syndrome
p.Ala89fs Single submitter Rett syndrome
p.Arg123Gly Single submitter Rett syndrome
p.Arg123Thr Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Arg145Gly Single submitter Rett syndrome
p.Arg174fs Single submitter Rett syndrome
p.Arg180Gly Single submitter Inborn genetic diseases ⚠
p.Arg202His Single submitter Rett syndrome
p.Arg262fs Single submitter Rett syndrome
p.Arg306fs Single submitter Rett syndrome
p.Arg321Gln Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Arg366fs Single submitter Rett syndrome
p.Arg432fs Single submitter X-linked intellectual disability-psychosis-macroorchidism syndrome
p.Arg496_Ter499del Single submitter Rett syndrome
p.Arg96fs Single submitter Rett syndrome
p.Asn138Ile Single submitter Rett syndrome
p.Asp108fs Single submitter Rett syndrome
p.Asp109Tyr Single submitter Rett syndrome
p.Asp133Asn Single submitter Rett syndrome
p.Asp133Gly Single submitter Rett syndrome
p.Asp133His Single submitter Inborn genetic diseases
p.Asp133Val Single submitter Rett syndrome
p.Asp159fs Single submitter Rett syndrome
p.Asp163Ala Single submitter Rett syndrome
p.Asp163fs Single submitter Rett syndrome
p.Asp163Val Single submitter
p.Asp168Ala Single submitter Rett syndrome
p.Asp168Glu Single submitter Rett syndrome
p.Asp168Tyr Single submitter Rett syndrome
p.Asp410fs Single submitter Rett syndrome
p.Cys425fs Single submitter Rett syndrome
p.Gln182fs Single submitter Rett syndrome
p.Gln239Ter Single submitter Rett syndrome
p.Gln256fs Single submitter Rett syndrome
p.Glu149fs Single submitter Rett syndrome
p.Glu149Gln Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu155fs Single submitter Rett syndrome
p.Glu22Ter Single submitter Rett syndrome
p.Glu294fs Single submitter Rett syndrome
p.Glu294Gly Single submitter autism spectrum disorder
p.Glu310fs Single submitter Rett syndrome
p.Glu360_Pro403delinsVal Single submitter Rett syndrome
p.Glu360fs Single submitter Rett syndrome
p.Glu377_Pro391del Single submitter Rett syndrome
p.Glu409fs Single submitter Rett syndrome
p.Glu428Ter Single submitter
p.Glu437fs Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu88fs Single submitter Rett syndrome
p.Gly104Ter Single submitter Rett syndrome
p.Gly130Ala Single submitter
p.Gly141Glu Single submitter
p.Gly141Val Single submitter Rett syndrome
p.Gly173Glu Single submitter Rett syndrome
p.Gly173Trp Single submitter Rett syndrome
p.Gly175Trp Single submitter
p.Gly197fs Single submitter Rett syndrome
p.Gly218_Glu386del Single submitter Rett syndrome
p.Gly218fs Single submitter Rett syndrome
p.Gly264_Arg265insTer Single submitter MECP2-related disorder
p.Gly281_Ter499delinsXaa Single submitter Rett syndrome
p.Gly347fs Single submitter Rett syndrome
p.Gly347Ter Single submitter MECP2-related disorder
p.Gly434fs Single submitter Rett syndrome
p.Gly468Ter Single submitter Rett syndrome
p.Gly72Asp Single submitter severe neonatal-onset encephalopathy with microcephaly
p.His379fs Single submitter Rett syndrome
p.His384_Ser385insTer Single submitter MECP2-related disorder
p.His55fs Single submitter Rett syndrome
p.Ile315_Val392delinsLeu Single submitter Rett syndrome
p.Ile315Val Single submitter ⚠
p.Ile326fs Single submitter MECP2-related disorder
p.Leu120His Single submitter Rett syndrome
p.Leu120Pro Single submitter Rett syndrome
p.Leu136fs Single submitter Rett syndrome
p.Leu136Trp Single submitter Rett syndrome
p.Leu136Val Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu150Ter Single submitter Rett syndrome
p.Leu420fs Single submitter Rett syndrome
p.Leu436fs Single submitter Rett syndrome
p.Lys147Asn Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys147Thr Single submitter
p.Lys187Ter Single submitter Rett syndrome
p.Lys189fs Single submitter Rett syndrome
p.Lys266_Ala269delinsThr Single submitter MECP2-related disorder
p.Lys266Ter Single submitter Rett syndrome
p.Lys296fs Single submitter Rett syndrome
p.Lys297fs Single submitter Rett syndrome
p.Lys298_Gln309delinsProTer Single submitter
p.Lys298fs Single submitter Rett syndrome
p.Lys301fs Single submitter Rett syndrome
p.Lys301Ter Single submitter Rett syndrome
p.Lys317fs Single submitter Rett syndrome
p.Lys317Glu Single submitter Rett syndrome ⚠
p.Lys317Thr Single submitter Rett syndrome ⚠
p.Lys319Asn Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Lys319Glu Single submitter ⚠
p.Lys346_Glu406del Single submitter
p.Lys349fs Single submitter Rett syndrome
p.Lys352Ter Single submitter Rett syndrome
p.Lys364Ter Single submitter Rett syndrome
p.Lys375fs Single submitter Rett syndrome
p.Lys389fs Single submitter Rett syndrome
p.Lys42_Val43insTer Single submitter Rett syndrome
p.Phe167Cys Single submitter Rett syndrome
p.Phe167Ile Single submitter Rett syndrome
p.Phe167Ser Single submitter Rett syndrome
p.Phe169Cys Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro105fs Single submitter Rett syndrome
p.Pro113His Single submitter Rett syndrome
p.Pro113Leu Single submitter Rett syndrome
p.Pro113Thr Single submitter
p.Pro164Thr Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro273fs Single submitter Rett syndrome
p.Pro277fs Single submitter Rett syndrome
p.Pro284fs Single submitter
p.Pro314_Ala390delinsArgThrSerTer Single submitter Inborn genetic diseases
p.Pro314Thr Single submitter Rett syndrome ⚠
p.Pro363fs Single submitter Rett syndrome
p.Pro388_Lys389insTer Single submitter
p.Pro388fs Single submitter Rett syndrome
p.Pro396_Ter499delinsXaa Single submitter Rett syndrome
p.Pro399_Pro405del Single submitter MECP2-related disorder
p.Pro399fs Single submitter Rett syndrome
p.Ser128fs Single submitter Rett syndrome
p.Ser128Phe Single submitter MECP2-related disorder
p.Ser146Pro Single submitter Rett syndrome
p.Ser178fs Single submitter Rett syndrome
p.Ser206_Glu409del Single submitter
p.Ser216fs Single submitter Rett syndrome
p.Ser303_Leu335delinsIleTyrProIleCysAlaGlyAspArgThrProHisGlnGluAlaGlnAspProGlyAspGlyGlnGln Single submitter MECP2-related disorder
p.Ser307fs Single submitter Rett syndrome
p.Ser325fs Single submitter Rett syndrome
p.Ser344fs Single submitter Rett syndrome
p.Ser361fs Single submitter Rett syndrome
p.Ser387fs Single submitter Rett syndrome
p.Ser423fs Single submitter Rett syndrome
p.Ser61fs Single submitter Rett syndrome
p.Ter499Cys Single submitter Rett syndrome
p.Ter499Leu Single submitter Rett syndrome
p.Thr111del Single submitter Rett syndrome
p.Thr170_Val171insTer Single submitter Rett syndrome
p.Thr170fs Single submitter Rett syndrome
p.Thr170Lys Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Thr172fs Single submitter Rett syndrome
p.Thr255Pro Single submitter MECP2-related disorder ⚠
p.Thr350fs Single submitter Rett syndrome
p.Trp116Cys Single submitter Inborn genetic diseases
p.Trp116fs Single submitter Rett syndrome
p.Tyr132fs Single submitter Rett syndrome
p.Tyr153fs Single submitter Rett syndrome
p.Tyr462Ter Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Val287_Ser407del Single submitter Rett syndrome
p.Val424fs Single submitter Rett syndrome
p.Val474Ile Single submitter ⚠
c.63-5800_1271del No assertion criteria epilepsy
p.Glu50fs No assertion criteria Abnormal muscle fiber morphology

Conflicting classifications of pathogenicity 54

c.413+13A>C Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-10G>T Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-14G>A Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-4del Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-6C>A Single submitter severe neonatal-onset encephalopathy with microcephaly
c.62+5G>A Single submitter MECP2-related disorder
p.Ala251Asp Single submitter Rett syndrome ⚠
p.Ala290Val Single submitter MECP2-related disorder ⚠
p.Ala299Val Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ala370Val Single submitter Inborn genetic diseases ⚠
p.Ala83Asp Single submitter Inborn genetic diseases
p.Glu155= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu181Gly Single submitter MECP2-related disorder ⚠
p.Glu428del Single submitter X-linked intellectual disability-psychosis-macroorchidism syndrome
p.Glu495= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly126Ala Single submitter syndromic X-linked intellectual disability Lubs type ⚠
p.Gly15Glu Single submitter severe neonatal-onset encephalopathy with microcephaly
p.His380= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.His380Tyr Single submitter Inborn genetic diseases ⚠
p.His381Tyr Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ile260Met Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Leu233Val Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu398_Pro403del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys364Arg Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Lys389_Pro393del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro105Ser Single submitter X-linked MECP2-related disorders ⚠
p.Pro184Ala Single submitter Inborn genetic diseases ⚠
p.Pro184Thr Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro188Ser Single submitter Inborn genetic diseases ⚠
p.Pro211Thr Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro273Arg Single submitter syndromic X-linked intellectual disability Lubs type ⚠
p.Pro334Ser Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro373His Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro373Thr Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro374Leu Single submitter Inborn genetic diseases ⚠
p.Pro391Leu Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro399Thr Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro403del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro415Ala Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro415Ser Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro442Leu Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ser304Cys Single submitter Inborn genetic diseases ⚠
p.Ser362= Single submitter Inborn genetic diseases
p.Ser385Pro Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ser387Phe Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ser413Asn Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Thr172Ser Single submitter MECP2-related disorder ⚠
p.Thr196Ser Single submitter autism, susceptibility to, X-linked 3 ⚠
p.Thr320Ile Single submitter Rett syndrome ⚠
p.Thr350= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Val219Ala Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Val312Ile Single submitter syndromic X-linked intellectual disability Lubs type ⚠
p.Val424Ala Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Val424Gly Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠

Benign 153

c.414-3C>T Expert panel Rett syndrome
c.414-6C>G Expert panel Rett syndrome
c.-31AG[2] Expert panel Rett syndrome
c.*14G>A Expert panel Rett syndrome
p.Ala143= Expert panel Rett syndrome
p.Ala213Val Expert panel Rett syndrome
p.Ala246Gly Expert panel Rett syndrome
p.Ala292= Expert panel Rett syndrome
p.Ala293Thr Expert panel Rett syndrome
p.Ala390Ser Expert panel Rett syndrome
p.Ala390Val Expert panel Rett syndrome
p.Ala451Ser Expert panel Rett syndrome
p.Ala455Thr Expert panel Rett syndrome
p.Ala459Thr Expert panel Rett syndrome
p.Ala459Val Expert panel Rett syndrome
p.Ala5Thr Expert panel Rett syndrome
p.Arg101Cys Expert panel Rett syndrome
p.Arg200Trp Expert panel Rett syndrome
p.Arg262Cys Expert panel Rett syndrome
p.Arg356Trp Expert panel Rett syndrome ⚠
p.Arg366Cys Expert panel Rett syndrome
p.Arg366Leu Expert panel Rett syndrome
p.Glu19Lys Expert panel Rett syndrome
p.Glu406Lys Expert panel Rett syndrome
p.Glu409Lys Expert panel Rett syndrome
p.Glu485Asp Expert panel Rett syndrome
p.Glu495Lys Expert panel Rett syndrome ⚠
p.Gly104= Expert panel Rett syndrome
p.Gly15_Gly16dup Expert panel Rett syndrome
p.Gly158= Expert panel Rett syndrome
p.Gly218Ala Expert panel Rett syndrome ⚠
p.Gly440Ser Expert panel Rett syndrome
p.His64Arg Expert panel Rett syndrome
p.Ile137= Expert panel Rett syndrome
p.Ile305Met Expert panel Rett syndrome
p.Leu225Val Expert panel Rett syndrome
p.Leu30= Expert panel Rett syndrome
p.Leu348Val Expert panel Rett syndrome
p.Leu395Phe Expert panel Rett syndrome
p.Lys429Met Expert panel Rett syndrome
p.Met430Thr Expert panel Rett syndrome
p.Pro184Leu Expert panel Rett syndrome
p.Pro211Ser Expert panel Rett syndrome
p.Pro373Ala Expert panel Rett syndrome
p.Pro388Ser Expert panel Rett syndrome
p.Pro391Ser Expert panel Rett syndrome
p.Pro396Leu Expert panel Rett syndrome
p.Pro396Ser Expert panel Rett syndrome
p.Pro399Leu Expert panel Rett syndrome ⚠
p.Pro400= Expert panel Rett syndrome
p.Pro400Leu Expert panel Rett syndrome
p.Pro400Ser Expert panel Rett syndrome ⚠
p.Pro402_Pro403del Expert panel Rett syndrome
p.Pro414Leu Expert panel Rett syndrome
p.Pro414Thr Expert panel Rett syndrome
p.Pro417Leu Expert panel Rett syndrome
p.Pro431Leu Expert panel Rett syndrome
p.Pro431Ser Expert panel Rett syndrome
p.Pro68= Expert panel Rett syndrome
p.Pro87Leu Expert panel Rett syndrome
p.Ser408= Expert panel Rett syndrome
p.Thr215Met Expert panel Rett syndrome
p.Thr323Met Expert panel Rett syndrome ⚠
p.Val287Ala Expert panel Rett syndrome
p.Val392= Expert panel Rett syndrome
p.Val392Met Expert panel Rett syndrome
c.413+22C>G Multiple submitters Rett syndrome
c.413+266T>C Multiple submitters Rett syndrome
c.413+28A>G Multiple submitters Rett syndrome
c.414-109A>G Multiple submitters Rett syndrome
c.414-20C>G Multiple submitters severe neonatal-onset encephalopathy with microcephaly
c.414-241C>T Multiple submitters Rett syndrome
c.*1737G>A Multiple submitters Rett syndrome
c.*328G>A Multiple submitters Rett syndrome
c.*3878G>C Multiple submitters Rett syndrome
c.*489G>C Multiple submitters Rett syndrome
c.*7856A>C Multiple submitters Rett syndrome
c.*878C>G Multiple submitters Rett syndrome
p.Gly244Ala Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Gly341Ser Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Lys36= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro211His Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro442Ser Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro492Ser Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Thr240Ser Multiple submitters History of neurodevelopmental disorder
p.Val234= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
c.413+15C>G Single submitter severe neonatal-onset encephalopathy with microcephaly
c.413+95G>A Single submitter Rett syndrome
c.414-5C>T Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-61C>G Single submitter Rett syndrome
c.414-65C>G Single submitter Rett syndrome
c.414-70C>G Single submitter Rett syndrome
c.62+14626C>T Single submitter Rett syndrome
c.62+21995G>T Single submitter Rett syndrome
c.62+304dup Single submitter
c.62+5380C>T Single submitter Rett syndrome
c.62+5503del Single submitter Rett syndrome
c.63-13972A>T Single submitter Rett syndrome
c.63-27438T>G Single submitter Rett syndrome
c.*1237T>C Single submitter Rett syndrome
c.*156G>T Single submitter Rett syndrome
c.*177G>C Single submitter Rett syndrome
c.*2556T>A Single submitter Rett syndrome
c.*2657G>A Single submitter Rett syndrome
c.*2956G>A Single submitter Rett syndrome
c.*3477G>A Single submitter Rett syndrome
c.*359G>C Single submitter Rett syndrome
c.*3638A>G Single submitter Rett syndrome
c.*363G>C Single submitter Rett syndrome
c.*3658C>T Single submitter Rett syndrome
c.*3662A>G Single submitter Rett syndrome
c.*393G>A Single submitter Rett syndrome
c.*4576A>C Single submitter Rett syndrome
c.*487G>C Single submitter Rett syndrome
c.*529G>T Single submitter Rett syndrome
c.*544G>A Single submitter Rett syndrome
c.*5478AT[6] Single submitter Rett syndrome
c.*554G>A Single submitter Rett syndrome
c.*55C>G Single submitter Rett syndrome
c.*7748C>T Single submitter Rett syndrome
c.*8503del Single submitter Rett syndrome
c.*8503dup Single submitter Rett syndrome
c.*861T>G Single submitter Rett syndrome
c.*8C>T Single submitter Rett syndrome
c.*93G>A Single submitter Rett syndrome
p.Ala269Gly Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala291Gly Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ala453= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Arg480Thr Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Asp133Glu Single submitter
p.Asp439= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Asp472His Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Glu302= Single submitter
p.Glu484Asp Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly207Ser Single submitter severe neonatal-onset encephalopathy with microcephaly
p.His379Gln Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu162= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys142Arg Single submitter Rett syndrome ⚠
p.Lys346Arg Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys36Arg Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys426Arg Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys47Glu Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro191= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro334= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro374Ala Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser228Gly Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser25= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser338Tyr Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser368Gly Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser407= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser413Thr Single submitter
p.Val424Phe Single submitter severe neonatal-onset encephalopathy with microcephaly
c.*810G>T No assertion criteria MECP2-related disorder

Benign/Likely benign 82

c.414-17del Multiple submitters Inborn genetic diseases
c.414-18_414-15del Multiple submitters severe neonatal-onset encephalopathy with microcephaly
c.414-74C>T Multiple submitters Inborn genetic diseases
c.*1368C>A Multiple submitters Rett syndrome
c.*13C>T Multiple submitters Inborn genetic diseases
c.*2706G>A Multiple submitters Rett syndrome
c.*371G>C Multiple submitters Rett syndrome
c.*4T>C Multiple submitters
c.*5348T>C Multiple submitters Rett syndrome
c.*98dup Multiple submitters Rett syndrome
c.*9G>A Multiple submitters History of neurodevelopmental disorder
p.454TAA[1] Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ala213= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ala214Val Multiple submitters syndromic X-linked intellectual disability Lubs type
p.Ala290= Multiple submitters Inborn genetic diseases
p.Ala293= Multiple submitters Inborn genetic diseases
p.Ala295= Multiple submitters Inborn genetic diseases
p.Ala370Thr Multiple submitters Rett syndrome
p.Ala451= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ala451Thr Multiple submitters Inborn genetic diseases
p.Ala451Val Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ala455= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ala456Thr Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Arg262= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Arg282= Multiple submitters Inborn genetic diseases
p.Arg306= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Arg366= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Arg470His Multiple submitters syndromic X-linked intellectual disability Lubs type
p.Arg496Thr Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Asn138= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Asp27= Multiple submitters Inborn genetic diseases
p.Cys425= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Gln239His Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Glu377= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Glu495Asp Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gly16del Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Gly207= Multiple submitters Inborn genetic diseases
p.Gly434= Multiple submitters syndromic X-linked intellectual disability Lubs type
p.Gly440= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.His379= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.His63= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ile326= Multiple submitters History of neurodevelopmental disorder
p.Leu232= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Leu340= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Lys296= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Lys357= Multiple submitters History of neurodevelopmental disorder
p.Lys443Gln Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Lys94Arg Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Phe154= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro188Arg Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro263= Multiple submitters History of neurodevelopmental disorder
p.Pro277= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro284Leu Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro314= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro400Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro411= Multiple submitters Rett syndrome
p.Pro411Leu Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro414= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro414Ser Multiple submitters Inborn genetic diseases
p.Pro417= Multiple submitters Inborn genetic diseases
p.Pro431= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro57= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro84= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ser206= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ser241Leu Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ser344= Multiple submitters Inborn genetic diseases
p.Ser369= Multiple submitters Inborn genetic diseases
p.Ser371Pro Multiple submitters Inborn genetic diseases
p.Ser423= Multiple submitters History of neurodevelopmental disorder
p.Ser435Pro Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ser82= Multiple submitters History of neurodevelopmental disorder
p.Thr170= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Thr208Ser Multiple submitters History of neurodevelopmental disorder
p.Thr209Met Multiple submitters Inborn genetic diseases
p.Thr215= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Thr311= Multiple submitters Rett syndrome
p.Thr454= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Thr491= Multiple submitters Inborn genetic diseases
p.Val257= Multiple submitters Inborn genetic diseases
p.Val300Met Multiple submitters History of neurodevelopmental disorder
p.Val424Ile Multiple submitters Inborn genetic diseases
p.Val58Met Multiple submitters Inborn genetic diseases

Likely benign 349

Showing the top 300 by review status; the full set is in the sitemap.

c.413+18C>G Expert panel Rett syndrome
c.413+24C>A Expert panel Rett syndrome
c.413+6_413+9del Expert panel Rett syndrome
p.Ala214Gly Expert panel Rett syndrome
p.Ala299Pro Expert panel Rett syndrome
p.Ala390Gly Expert panel Rett syndrome
p.Ala390Thr Expert panel Rett syndrome
p.Ala455Val Expert panel Rett syndrome
p.Ala6_Ala8dup Expert panel Rett syndrome
p.Ala7_Ala8del Expert panel Rett syndrome
p.Arg262His Expert panel Rett syndrome
p.Arg470= Expert panel Rett syndrome
p.Arg480= Expert panel Rett syndrome
p.Arg490Gln Expert panel Rett syndrome ⚠
p.Asp35Glu Expert panel Rett syndrome
p.Asp419Asn Expert panel Rett syndrome
p.Gln449Lys Expert panel Rett syndrome
p.Glu386Gln Expert panel Rett syndrome
p.Glu404Ala Expert panel Rett syndrome
p.Glu406_Pro417del Expert panel Rett syndrome
p.Gly243Arg Expert panel Rett syndrome
p.Gly250= Expert panel Rett syndrome
p.His383_His384del Expert panel Rett syndrome
p.His384_Ser385delinsProGln Expert panel Rett syndrome
p.His384Tyr Expert panel Rett syndrome
p.Leu340Val Expert panel Rett syndrome
p.Leu398_Pro399del Expert panel Rett syndrome
p.Pro185Ala Expert panel Rett syndrome
p.Pro185Arg Expert panel Rett syndrome
p.Pro188= Expert panel Rett syndrome
p.Pro188His Expert panel Rett syndrome ⚠
p.Pro373Ser Expert panel Rett syndrome
p.Pro374Ser Expert panel Rett syndrome
p.Pro393Ser Expert panel Rett syndrome
p.Pro397Ser Expert panel Rett syndrome
p.Pro400_Pro405del Expert panel Rett syndrome
p.Pro403Ala Expert panel Rett syndrome
p.Pro405Leu Expert panel Rett syndrome
p.Pro411Ser Expert panel Rett syndrome
p.Pro415Arg Expert panel Rett syndrome
p.Pro415Leu Expert panel Rett syndrome
p.Pro486= Expert panel Rett syndrome
p.Pro84Leu Expert panel Rett syndrome
p.Pro87= Expert panel Rett syndrome
p.Ser190Cys Expert panel Rett syndrome ⚠
p.Ser387= Expert panel Rett syndrome
p.Ser423del Expert panel Rett syndrome
p.Ser489Thr Expert panel Rett syndrome
p.Thr160Ala Expert panel Rett syndrome
p.Val324= Expert panel Rett syndrome
p.Val493Met Expert panel Rett syndrome ⚠
c.414-16C>T Multiple submitters severe neonatal-onset encephalopathy with microcephaly
c.*1C>G Multiple submitters
c.*806G>A Multiple submitters Rett syndrome
p.Ala152= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ala214= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ala251= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ala275= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ala290Thr Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ala456= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ala458= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Arg200= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Arg280= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Arg306Gln Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Arg306Pro Multiple submitters Rett syndrome
p.Arg465Gln Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Arg470Cys Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Asp410= Multiple submitters Inborn genetic diseases
p.Glu247= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Glu404= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Glu467= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.His378= Multiple submitters Rett syndrome
p.His64Gln Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Leu313= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Lys359= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro105= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro184= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro203= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro211Arg Multiple submitters Inborn genetic diseases
p.Pro242= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro363= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro397= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro397His Multiple submitters Inborn genetic diseases ⚠
p.Pro450= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro492= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ser161= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ser338= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ser408Phe Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ser413= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ser438= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Thr209= Multiple submitters Inborn genetic diseases
p.Thr253= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Thr412Ile Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Thr494= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Val308= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Val328= Multiple submitters severe neonatal-onset encephalopathy with microcephaly
c.413+12C>T Single submitter severe neonatal-onset encephalopathy with microcephaly
c.413+14A>G Single submitter
c.413+16T>C Single submitter severe neonatal-onset encephalopathy with microcephaly
c.413+17C>G Single submitter
c.413+17C>T Single submitter severe neonatal-onset encephalopathy with microcephaly
c.413+20A>G Single submitter severe neonatal-onset encephalopathy with microcephaly
c.413+242C>T Single submitter
c.413+266T>G Single submitter Rett syndrome
c.414-10G>A Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-16C>A Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-18_414-17insA Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-20C>T Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-42A>G Single submitter Rett syndrome
c.414-4A>G Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-5C>G Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-7C>G Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-7C>T Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-8C>A Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-8C>T Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-9T>C Single submitter severe neonatal-onset encephalopathy with microcephaly
c.62+10A>T Single submitter severe neonatal-onset encephalopathy with microcephaly
c.62+11C>T Single submitter severe neonatal-onset encephalopathy with microcephaly
c.62+13G>A Single submitter
c.62+15C>T Single submitter severe neonatal-onset encephalopathy with microcephaly
c.62+16G>A Single submitter severe neonatal-onset encephalopathy with microcephaly
c.62+18G>A Single submitter severe neonatal-onset encephalopathy with microcephaly
c.62+20C>A Single submitter
c.62+20C>G Single submitter
c.62+5140A>G Single submitter
c.62+5300C>G Single submitter
c.62+5429C>G Single submitter severe neonatal-onset encephalopathy with microcephaly
c.62+5429C>T Single submitter severe neonatal-onset encephalopathy with microcephaly
c.62+5430C>G Single submitter severe neonatal-onset encephalopathy with microcephaly
c.62+5434dup Single submitter severe neonatal-onset encephalopathy with microcephaly
c.62+5435_62+5436insA Single submitter severe neonatal-onset encephalopathy with microcephaly
c.62+5440T>G Single submitter severe neonatal-onset encephalopathy with microcephaly
c.62+5469A>T Single submitter Rett syndrome
c.62+5488dup Single submitter
c.62+8G>A Single submitter severe neonatal-onset encephalopathy with microcephaly
c.63-14G>A Single submitter severe neonatal-onset encephalopathy with microcephaly
c.63-16T>C Single submitter severe neonatal-onset encephalopathy with microcephaly
c.63-17C>A Single submitter severe neonatal-onset encephalopathy with microcephaly
c.63-17C>G Single submitter severe neonatal-onset encephalopathy with microcephaly
c.63-17C>T Single submitter severe neonatal-onset encephalopathy with microcephaly
c.63-20A>G Single submitter severe neonatal-onset encephalopathy with microcephaly
c.63-20A>T Single submitter severe neonatal-onset encephalopathy with microcephaly
c.63-26781dup Single submitter
c.63-26998T>C Single submitter
c.63-27183C>T Single submitter
c.63-8C>T Single submitter severe neonatal-onset encephalopathy with microcephaly
c.*1109T>C Single submitter
c.*122del Single submitter Rett syndrome
c.*16A>G Single submitter
c.*36G>C Single submitter Rett syndrome
c.*5839C>T Single submitter Rett syndrome
c.*772G>A Single submitter
c.*830G>A Single submitter
c.*831G>C Single submitter Rett syndrome
p.Ala193= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala271= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala271Gly Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala291= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala299= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala370= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala390= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala458Val Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala459= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala5= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala62= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala85= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala89= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala91= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Arg123= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Arg145= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Arg180= Single submitter Rett syndrome
p.Arg202= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Arg223= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Arg223Ser Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Arg265= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Arg267= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Arg306Gly Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Arg318= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Arg356= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Arg465= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Arg490= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Asp29= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Asp410Tyr Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Asp439Asn Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Cys441= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gln140= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gln239= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gln418= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gln418Pro Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gln59= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu181= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu330= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu406= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu406_Pro411del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu416= Single submitter
p.Glu437= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu485= Single submitter
p.Glu88= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly15= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly16dup Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly175= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly195Arg Single submitter Rett syndrome ⚠
p.Gly197= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly199= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly205= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly218= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly243= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly248= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly249= Single submitter
p.Gly285= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly32= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly32Ser Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly345= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly355= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly365= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly4= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly434Asp Single submitter severe neonatal-onset encephalopathy with microcephaly
p.His381= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.His382= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.His382Arg Single submitter severe neonatal-onset encephalopathy with microcephaly
p.His384= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.His64= Single submitter
p.Ile473= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu112= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu225= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu33= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu335= Single submitter
p.Leu336= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu348= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu38= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu394_Pro399del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu395= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu398= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu398_Pro401del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Leu398Pro Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys124= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys183= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys187= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys189= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys261= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys279= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys283= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys352Arg Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys375= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys375Asn Single submitter ⚠
p.Lys376= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys389= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys426= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys429= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys447= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Lys471Thr Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Lys94= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro139= Single submitter
p.Pro177= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro188Ala Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro194= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro211= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro211Leu Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro242Ser Single submitter
p.Pro263Leu Single submitter Rett syndrome
p.Pro284= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro354Thr Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro373= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro373Leu Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro374= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro391= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro393= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro396= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro397Leu Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro397Thr Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro399= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro400_Pro403del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro400_Pro417del Single submitter Rett syndrome
p.Pro401= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro401_Pro415del Single submitter Rett syndrome
p.Pro402= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro402Ala Single submitter
p.Pro402Ser Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro403= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro405= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro414His Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro417Ser Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro442= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Pro445= Single submitter
p.Pro445fs Single submitter MECP2-related disorder
p.Pro93= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser146= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser176= Single submitter
p.Ser178= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser216= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser216Leu Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser241= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser286= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser325= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser353= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser353Asn Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser367= Single submitter Rett syndrome
p.Ser371= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ser421Asn Single submitter
p.Ser422= Single submitter severe neonatal-onset encephalopathy with microcephaly

Uncertain significance 504

Showing the top 300 by review status; the full set is in the sitemap.

p.Arg127Cys Expert panel Rett syndrome ⚠
p.Arg179Pro Expert panel Rett syndrome ⚠
p.Arg202Cys Expert panel Rett syndrome ⚠
p.Arg280Trp Expert panel Rett syndrome ⚠
p.Arg366His Expert panel Rett syndrome ⚠
p.Arg483Thr Expert panel Rett syndrome ⚠
p.Arg97Cys Expert panel Rett syndrome ⚠
p.Cys425Arg Expert panel Rett syndrome ⚠
p.Gln239Glu Expert panel Rett syndrome ⚠
p.Glu495Ter Expert panel Rett syndrome
p.Gly81Val Expert panel Rett syndrome ⚠
p.His380fs Expert panel Rett syndrome
p.His63Gln Expert panel Rett syndrome ⚠
p.Leu313Val Expert panel Rett syndrome ⚠
p.Leu394_Pro402del Expert panel Rett syndrome
p.Lys343Arg Expert panel Rett syndrome ⚠
p.Pro185Thr Expert panel Rett syndrome ⚠
p.Pro400_Pro479del Expert panel Rett syndrome
p.Pro414fs Expert panel Rett syndrome
p.Ser82Pro Expert panel Rett syndrome ⚠
p.Thr111Pro Expert panel Rett syndrome ⚠
c.414-11T>A Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ala269Asp Multiple submitters
p.Ala275Gly Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ala289Val Multiple submitters Inborn genetic diseases ⚠
p.Ala453Thr Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ala456del Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ala83Val Multiple submitters Inborn genetic diseases ⚠
p.Arg103Gln Multiple submitters Rett syndrome ⚠
p.Arg103Trp Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Arg96Trp Multiple submitters MECP2-related disorder ⚠
p.Asp159Glu Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gln274Glu Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gln31Glu Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Glu155Lys Multiple submitters Rett syndrome ⚠
p.Glu18Lys Multiple submitters Inborn genetic diseases
p.Glu19Asp Multiple submitters Inborn genetic diseases
p.Glu23Gly Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Glu330Ala Multiple submitters Rett syndrome ⚠
p.Glu360Asp Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Glu485Gln Multiple submitters X-linked intellectual disability-psychosis-macroorchidism syndrome ⚠
p.Gly115Asp Multiple submitters Rett syndrome ⚠
p.Gly249Ser Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gly249Val Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gly264Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly466Arg Multiple submitters ⚠
p.Gly53Ser Multiple submitters ⚠
p.Gly79Val Multiple submitters Inborn genetic diseases ⚠
p.His381_His384del Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.His384del Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.His384dup Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ile315Ser Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Leu150Ser Multiple submitters Rett syndrome ⚠
p.Leu162Val Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Leu30Phe Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Leu336Val Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Leu398_Pro402del Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Leu398_Pro411del Multiple submitters Rett syndrome
p.Leu398_Pro415del Multiple submitters Rett syndrome
p.Lys222Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys298Arg Multiple submitters Rett syndrome ⚠
p.Lys333Glu Multiple submitters Rett syndrome ⚠
p.Lys375Thr Multiple submitters
p.Lys376del Multiple submitters
p.Lys471Arg Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Lys51Arg Multiple submitters Inborn genetic diseases ⚠
p.Met430Val Multiple submitters MECP2-related disorder ⚠
p.Phe238Leu Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro184Ser Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro188Leu Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro191Ala Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro191Ser Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro194Ser Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro229Ser Multiple submitters Rett syndrome ⚠
p.Pro242Thr Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro354Arg Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro363_Ser367del Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro363Leu Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro388Arg Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro397_Pro403del Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro399Ser Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro400_Ser408del Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro401_Pro403del Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro403Thr Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Pro481Leu Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Pro9Arg Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ser286Gly Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ser303Cys Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ser307Cys Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ser344Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser358Arg Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ser369del Multiple submitters severe neonatal-onset encephalopathy with microcephaly
p.Ser407Gly Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ser92Phe Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Thr350Ser Multiple submitters syndromic X-linked intellectual disability Lubs type ⚠
p.Thr454Ala Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Thr457Met Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Val219Met Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Val224Asp Multiple submitters severe neonatal-onset encephalopathy with microcephaly ⚠
p.Val331Met Multiple submitters syndromic X-linked intellectual disability Lubs type ⚠
c.26+2T>A Single submitter Rett syndrome
c.413+11G>C Single submitter Rett syndrome
c.413+2dup Single submitter
c.413+30G>A Single submitter Rett syndrome
c.413+4A>G Single submitter Rett syndrome
c.413+5G>A Single submitter severe neonatal-onset encephalopathy with microcephaly
c.414-74C>G Single submitter Rett syndrome
c.62+32135T>G Single submitter Rett syndrome
c.62+3G>C Single submitter severe neonatal-onset encephalopathy with microcephaly
c.62+5439T>C Single submitter
c.63-25215C>A Single submitter
c.63-3C>A Single submitter severe neonatal-onset encephalopathy with microcephaly
c.63-3C>G Single submitter
c.63-55G>A Single submitter Rett syndrome
c.63-6C>T Single submitter syndromic X-linked intellectual disability Lubs type
c.63-866C>T Single submitter Rett syndrome
c.63-8C>G Single submitter Rett syndrome
c.63-9A>G Single submitter Rett syndrome
c.*1134G>A Single submitter Rett syndrome
c.*117T>C Single submitter
c.*125_*126del Single submitter
c.*204G>A Single submitter Rett syndrome
c.*4084GT[1] Single submitter Rett syndrome
c.*586C>T Single submitter
c.*767G>T Single submitter Rett syndrome
c.*796_*822del Single submitter Rett syndrome
c.*8500C>G Single submitter Rett syndrome
c.*875dup Single submitter Rett syndrome
c.*92C>G Single submitter Rett syndrome
c.*92C>T Single submitter Rett syndrome
p.Ala129_Gly130delinsSerTrp Single submitter
p.Ala143Gly Single submitter ⚠
p.Ala143Pro Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ala143Val Single submitter ⚠
p.Ala193Gly Single submitter ⚠
p.Ala193Ser Single submitter ⚠
p.Ala193Val Single submitter Rett syndrome ⚠
p.Ala246Asp Single submitter ⚠
p.Ala246Val Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ala251Val Single submitter ⚠
p.Ala269Val Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ala271Ser Single submitter MECP2-related disorder ⚠
p.Ala275Val Single submitter Inborn genetic diseases ⚠
p.Ala291Ser Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ala291Thr Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ala293del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala293Gly Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ala295Asp Single submitter ⚠
p.Ala299Asp Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ala370Ser Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ala390Asp Single submitter ⚠
p.Ala446Gly Single submitter ⚠
p.Ala451_Ala453dup Single submitter Rett syndrome
p.Ala456Val Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ala459_Glu460del Single submitter Rett syndrome
p.Ala4Thr Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala69Thr Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ala83Gly Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ala89Thr Single submitter ⚠
p.Ala8Glu Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Ala91Ser Single submitter ⚠
p.Arg103Pro Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Arg180Pro Single submitter ⚠
p.Arg200Gln Single submitter ⚠
p.Arg20Ser Single submitter Developmental disorder
p.Arg210_Thr215dup Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Arg210Ile Single submitter
p.Arg223Gly Single submitter ⚠
p.Arg280Gln Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Arg282_Lys283insGlyArg Single submitter
p.Arg282Gln Single submitter ⚠
p.Arg282Gly Single submitter Rett syndrome ⚠
p.Arg321Gly Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Arg356Gly Single submitter Rett syndrome ⚠
p.Arg366_Pro397del Single submitter Rett syndrome
p.Arg480_Pro481del Single submitter Rett syndrome
p.Arg96Gln Single submitter ⚠
p.Arg97His Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Asn138Asp Single submitter ⚠
p.Asn138Ser Single submitter Rett syndrome ⚠
p.Asn482Asp Single submitter
p.Asn482fs Single submitter Rett syndrome
p.Asn482Ile Single submitter ⚠
p.Asp102His Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Asp109Glu Single submitter Rett syndrome ⚠
p.Asp159Asn Single submitter Rett syndrome ⚠
p.Asp168= Single submitter Rett syndrome
p.Asp272Asn Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Asp27Ala Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Asp27Glu Single submitter Inborn genetic diseases ⚠
p.Asp29_Gln31del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Asp410Ala Single submitter Rett syndrome ⚠
p.Asp439del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Asp439Tyr Single submitter ⚠
p.Asp46Tyr Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Asp472Tyr Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Asp488Gly Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Cys351Arg Single submitter Rett syndrome
p.Cys351Tyr Single submitter ⚠
p.Cys425Ser Single submitter MECP2-related disorder ⚠
p.Gln220Arg Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gln220Pro Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gln274Arg Single submitter ⚠
p.Gln274His Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gln274Pro Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gln31His Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gln31Pro Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gln418Glu Single submitter ⚠
p.Glu155Ala Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Glu155Gly Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Glu17Lys Single submitter Rett syndrome
p.Glu18Asp Single submitter
p.Glu19del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu19fs Single submitter Rett syndrome
p.Glu19Gly Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu226Gly Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Glu22Gln Single submitter Rett syndrome
p.Glu26Lys Single submitter
p.Glu270Gly Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu302Gly Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu327Gly Single submitter
p.Glu327Lys Single submitter ⚠
p.Glu342Asp Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Glu377_His378del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu377del Single submitter Rett syndrome
p.Glu377Gly Single submitter X-linked intellectual disability-psychosis-macroorchidism syndrome ⚠
p.Glu386Ala Single submitter ⚠
p.Glu404_Glu409del Single submitter Rett syndrome
p.Glu404_Thr412delinsAla Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Glu404Asp Single submitter ⚠
p.Glu406Asp Single submitter ⚠
p.Glu409_Ser423delinsCysCysSerSerProGlyAlaGlnGlyGlyTrpTrpGlyProArg Single submitter Rett syndrome
p.Glu416Lys Single submitter Rett syndrome ⚠
p.Glu428Asp Single submitter ⚠
p.Glu437Gln Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Glu444Gly Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Glu467Lys Single submitter Inborn genetic diseases ⚠
p.Glu469Lys Single submitter Inborn genetic diseases ⚠
p.Glu485_Pro486insGlu Single submitter
p.Glu495fs Single submitter Rett syndrome
p.Glu49Asp Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gly104Glu Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gly115Ser Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gly11Glu Single submitter
p.Gly13Arg Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly14= Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly141= Single submitter
p.Gly14Arg Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly15Arg Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly16Arg Single submitter
p.Gly197Cys Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gly197Ser Single submitter
p.Gly197Val Single submitter ⚠
p.Gly218Asp Single submitter Rett syndrome ⚠
p.Gly243Ala Single submitter ⚠
p.Gly243Trp Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly244= Single submitter
p.Gly244Asp Single submitter ⚠
p.Gly249Arg Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly250Trp Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly281Ser Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gly285Glu Single submitter ⚠
p.Gly32Arg Single submitter
p.Gly345Arg Single submitter
p.Gly355_Pro415del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly365Arg Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gly365Glu Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly433Arg Single submitter MECP2-related disorder ⚠
p.Gly466= Single submitter
p.Gly466Ala Single submitter ⚠
p.Gly468Ala Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Gly468Glu Single submitter severe neonatal-onset encephalopathy with microcephaly
p.Gly468Val Single submitter ⚠
p.His378_Asp410del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.His378_Ter499delinsXaa Single submitter Rett syndrome
p.His378Asp Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.His378fs Single submitter Rett syndrome
p.His378Gln Single submitter ⚠
p.His378Tyr Single submitter ⚠
p.His379_Leu395del Single submitter severe neonatal-onset encephalopathy with microcephaly
p.His379Arg Single submitter ⚠
p.His380Asn Single submitter ⚠
p.His380Asp Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.His380Gln Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.His382_His384del Single submitter
p.His382Gln Single submitter Rett syndrome ⚠
p.His382Tyr Single submitter ⚠
p.His383Asp Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.His383Tyr Single submitter syndromic X-linked intellectual disability Lubs type ⚠
p.His384_Ala453delinsPro Single submitter severe neonatal-onset encephalopathy with microcephaly
p.His384_Ser413delinsArg Single submitter Rett syndrome
p.His384Gln Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.His384Pro Single submitter ⚠
p.His464fs Single submitter Rett syndrome
p.His464Gln Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ile276Val Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ile305Val Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠
p.Ile326Met Single submitter Inborn genetic diseases ⚠
p.Leu112Arg Single submitter Rett syndrome ⚠
p.Leu120Phe Single submitter severe neonatal-onset encephalopathy with microcephaly ⚠