EGR2 — 442 ClinVar variants

All ClinVar germline EGR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 249 flagged for review →

12 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 18 Conflicting · 13 Benign · 8 Benign/Likely benign · 118 Likely benign · 268 Uncertain significance

Full EGR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 249

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 agree, ClinVar conflicts 6

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

EGR2 p.Ala278Thr Conflicting Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg359Gly Conflicting Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Met222Thr Conflicting Single submitter
Inborn genetic diseases
EGR2 p.Thr153Pro Conflicting Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr215Met Conflicting Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro397His Conflicting No assertion criteria
Charcot-Marie-Tooth disease type 1D

Predictors lean, ClinVar uncertain 134

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

EGR2 p.Ala399Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Ala467Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala55Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Arg257Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg472Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg69Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Asn24Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Asn41Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Asn61Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Asp237Glu Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Asp30Asn Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Cys403Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Gly240Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Gly464Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Gly46Val Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Lys414Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Met64Val Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Pro148His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro148Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Pro167Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro209Thr Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Pro227Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro276Thr Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Pro283Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Pro292Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Pro468Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro47Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Ser190Thr Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Ser77Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr157Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Val258Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Val447Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala128Thr Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Ala139Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala139Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala187Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala201Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala285Gly Uncertain significance Single submitter
EGR2 p.Ala285Thr Uncertain significance Single submitter
EGR2 p.Ala32Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala32Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala33Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala42Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala437Thr Uncertain significance Single submitter
EGR2 p.Ala4Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala80Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg246His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg293Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg353Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg373Gly Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Arg405Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg405Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg409Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg415His Uncertain significance Single submitter
EGR2 p.Arg474Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Asn142Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Asn52His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Asp245His Uncertain significance Single submitter
EGR2 p.Asp72Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Cys400Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Cys403Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Cys454Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1D
EGR2 p.Gln183His Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Gln423Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Glu395Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease
EGR2 p.Glu67Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Gly104Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Gly16Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Gly240Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Gly240Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.His239Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.His313Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease
EGR2 p.His364Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.His420Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ile25Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ile320Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ile363Asn Uncertain significance Single submitter
EGR2 p.Ile62Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ile98Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Leu181Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1D
EGR2 p.Leu273Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Leu31Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Leu73Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Lys68Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Met154Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Met222Val Uncertain significance Single submitter
EGR2 p.Met51Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Met93Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Phe398Leu Uncertain significance Single submitter
EGR2 p.Pro103Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro103Leu Uncertain significance Single submitter
EGR2 p.Pro103Ser Uncertain significance Single submitter
EGR2 p.Pro127Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro127Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1D
EGR2 p.Pro141Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro159Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro213Ser Uncertain significance Single submitter
EGR2 p.Pro231Leu Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Pro244Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro27Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro292Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro312Arg Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Pro339Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro369Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro449Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro47Leu Uncertain significance Single submitter
EGR2 p.Pro47Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro74Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ser190Pro Uncertain significance Single submitter
EGR2 p.Ser197Ala Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Ser432Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 3
EGR2 p.Ser470Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr125Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr130Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr13Ala Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Thr153Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr241Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr241Arg Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Thr267Lys Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Thr387Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr391Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr393Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr452Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr65Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr91Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Tyr182His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Tyr310Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Val435Leu Uncertain significance Single submitter
EGR2 p.Arg353Gly Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 1D
EGR2 p.Asp355Val Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease
EGR2 p.Asp383His Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease
EGR2 p.Asp383Tyr Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 1D
EGR2 p.Gly275Val Uncertain significance No assertion criteria
EGR2-related disorder
EGR2 p.His314Pro Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease

Predictors split 109

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

EGR2 p.Ala303Pro Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Ala308Thr Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Arg246Cys Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Arg426Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Asn328Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Asp245Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
EGR2 p.Glu290Lys Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Glu356Gln Likely pathogenic Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Glu356Lys Pathogenic Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Gly284Glu Uncertain significance Multiple submitters
EGR2 p.Gly56Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Leu31Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro203Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro224Thr Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Pro341Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Ser277Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Ser428Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr137Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr153Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr194Ile Uncertain significance Multiple submitters
Inborn genetic diseases
EGR2 p.Val151Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala187Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala304Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala305Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala306Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala309Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala309Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ala408Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg257Trp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg269Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg293Trp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg318Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg318Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg373Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg381Ser Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Arg415Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg415Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Arg472Trp Uncertain significance Single submitter
EGR2 p.Arg474Trp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Asn114Asp Uncertain significance Single submitter
EGR2 p.Asn270Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Asp160Val Uncertain significance Single submitter
EGR2 p.Asp162Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Asp180Ala Uncertain significance Single submitter
EGR2 p.Asp184Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Asp355Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Asp355Gly Conflicting Single submitter
Charcot-Marie-Tooth disease type 1D
EGR2 p.Asp401Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Asp411Asn Conflicting Single submitter
EGR2-related disorder
EGR2 p.Asp8His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Cys177Arg Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Cys443Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Glu29Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Glu337Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Gly119Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Gly123Glu Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Gly179Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Gly282Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Gly284Arg Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Gly451Asp Conflicting Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.His384Asn Likely pathogenic Single submitter
Charcot-Marie-Tooth disease type 3
EGR2 p.Ile25Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ile25Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ile361Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ile98Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Leu14Phe Uncertain significance Single submitter
EGR2 p.Leu262Arg Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Lys5Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Met376Arg Uncertain significance Single submitter
EGR2 p.Met64Ile Conflicting Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Phe17Leu Uncertain significance Single submitter
EGR2 p.Phe39Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Phe79Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro143Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro169Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro169Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro172Ala Uncertain significance Single submitter
EGR2 p.Pro205Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro259Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro260His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro264Leu Conflicting Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro316Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro341Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro341Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Pro40Ser Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Ser133Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ser155Phe Uncertain significance Single submitter
EGR2 p.Ser15Arg Uncertain significance Single submitter
EGR2 p.Ser175Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1D
EGR2 p.Ser22Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ser331Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ser429Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ser439Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ser456Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ser460Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr272Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr358Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr387Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr440Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Thr473Ile Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Tyr108His Uncertain significance Single submitter
EGR2 p.Tyr226Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Tyr26Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Tyr402Cys Uncertain significance Single submitter
Inborn genetic diseases
EGR2 p.Tyr75His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Val18Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 1
EGR2 p.Ile268Asn Conflicting No assertion criteria
Charcot-Marie-Tooth disease type 4E
EGR2 p.Met51Thr Uncertain significance No assertion criteria
Spastic paraplegia
EGR2 p.Ser382Arg Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 1D

All EGR2 variants

Pathogenic 12

p.Arg359Trp Multiple submitters Charcot-Marie-Tooth disease type 1
p.Arg381Cys Multiple submitters Charcot-Marie-Tooth disease type 1
p.Arg381His Multiple submitters Charcot-Marie-Tooth disease type 1
p.Arg381Leu Multiple submitters Charcot-Marie-Tooth disease type 1
p.Arg409Trp Multiple submitters Charcot-Marie-Tooth disease type 1
p.Glu356Lys Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Arg359Gln Single submitter Charcot-Marie-Tooth disease type 1
p.Asp411Gly Single submitter Charcot-Marie-Tooth disease type 3
p.Glu412Gly Single submitter Charcot-Marie-Tooth disease type 1
p.Glu412Lys Single submitter Charcot-Marie-Tooth disease type 1
p.His384Arg Single submitter
p.His384Gln Single submitter Charcot-Marie-Tooth disease type 3

Pathogenic/Likely pathogenic 1

p.Arg409Gln Multiple submitters Charcot-Marie-Tooth disease type 1

Likely pathogenic 4

p.Glu356Gln Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Asp411Tyr Single submitter
p.His384Asn Single submitter Charcot-Marie-Tooth disease type 3 ⚠
p.Leu385His No assertion criteria

Conflicting classifications of pathogenicity 18

p.Ala278Thr Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala306= Single submitter Inborn genetic diseases
p.Ala308= Single submitter Inborn genetic diseases
p.Ala309del Single submitter Charcot-Marie-Tooth disease type 1
p.Ala309dup Single submitter Inborn genetic diseases
p.Arg359Gly Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Asp355Gly Single submitter Charcot-Marie-Tooth disease type 1D ⚠
p.Asp411Asn Single submitter EGR2-related disorder ⚠
p.Gly451Asp Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Met222Thr Single submitter Inborn genetic diseases ⚠
p.Met64Ile Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro264Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro465= Single submitter Charcot-Marie-Tooth disease type 1
p.Thr153Pro Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Thr215Met Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Val36= Single submitter Charcot-Marie-Tooth disease type 1
p.Ile268Asn No assertion criteria Charcot-Marie-Tooth disease type 4E ⚠
p.Pro397His No assertion criteria Charcot-Marie-Tooth disease type 1D ⚠

Benign 13

c.169+10G>T Multiple submitters Charcot-Marie-Tooth disease type 1
c.-147-76G>A Multiple submitters
c.-3193C>A Multiple submitters
c.-3195C>T Multiple submitters
c.*287T>A Multiple submitters Charcot-Marie-Tooth disease type 1D
c.*874A>G Multiple submitters Charcot-Marie-Tooth disease type 1D
p.Arg362= Multiple submitters Charcot-Marie-Tooth disease type 1D
p.Pro209= Multiple submitters Charcot-Marie-Tooth disease type 1
c.169+204A>G Single submitter
c.169+211C>A Single submitter
c.169+261G>C Single submitter
c.-528C>G Single submitter
c.*429G>A Single submitter Charcot-Marie-Tooth disease type 1D

Benign/Likely benign 8

c.*288G>A Multiple submitters Charcot-Marie-Tooth disease type 1D
p.Ala178= Multiple submitters Inborn genetic diseases
p.Ala303= Multiple submitters Charcot-Marie-Tooth disease type 1
p.Ala467Pro Multiple submitters Charcot-Marie-Tooth disease type 1
p.Gly451Val Multiple submitters Charcot-Marie-Tooth disease
p.Gly58= Multiple submitters Charcot-Marie-Tooth disease type 1
p.Tyr340= Multiple submitters Charcot-Marie-Tooth disease type 1
p.Val82= Multiple submitters Charcot-Marie-Tooth disease type 1D

Likely benign 118

c.-1A>G Multiple submitters Charcot-Marie-Tooth disease type 1D
p.Ala32= Multiple submitters Charcot-Marie-Tooth disease type 1
p.Ala42= Multiple submitters Inborn genetic diseases
p.Ala55= Multiple submitters Charcot-Marie-Tooth disease type 1
p.Arg472= Multiple submitters Charcot-Marie-Tooth disease type 1
p.Asp180= Multiple submitters Inborn genetic diseases
p.Asp245= Multiple submitters Inborn genetic diseases
p.Asp383= Multiple submitters Charcot-Marie-Tooth disease type 1
p.Gly462= Multiple submitters Charcot-Marie-Tooth disease type 1
p.Gly66= Multiple submitters Charcot-Marie-Tooth disease type 1
p.Lys414= Multiple submitters Charcot-Marie-Tooth disease type 1
p.Lys95= Multiple submitters Inborn genetic diseases
p.Pro169= Multiple submitters Inborn genetic diseases
p.Pro476= Multiple submitters Charcot-Marie-Tooth disease type 1
p.Pro74= Multiple submitters Inborn genetic diseases
p.Ser70= Multiple submitters Charcot-Marie-Tooth disease type 1
p.Thr263= Multiple submitters Charcot-Marie-Tooth disease type 1
p.Thr272= Multiple submitters Charcot-Marie-Tooth disease type 1
p.Thr3= Multiple submitters Inborn genetic diseases
p.Thr393= Multiple submitters Charcot-Marie-Tooth disease type 1
p.Tyr402= Multiple submitters Inborn genetic diseases
p.Val258= Multiple submitters Charcot-Marie-Tooth disease
p.Val280= Multiple submitters Charcot-Marie-Tooth disease type 1
c.169+13T>A Single submitter Charcot-Marie-Tooth disease type 1
c.169+18G>C Single submitter Charcot-Marie-Tooth disease type 1
c.169+19C>T Single submitter Charcot-Marie-Tooth disease type 1
c.169+7C>T Single submitter Charcot-Marie-Tooth disease type 1
c.170-10C>T Single submitter Charcot-Marie-Tooth disease type 1
c.170-11C>G Single submitter Charcot-Marie-Tooth disease type 1
c.170-14T>C Single submitter Charcot-Marie-Tooth disease type 1
c.170-19C>A Single submitter Charcot-Marie-Tooth disease type 1
c.170-19C>T Single submitter Charcot-Marie-Tooth disease type 1
c.170-4C>G Single submitter Charcot-Marie-Tooth disease type 1
c.170-8C>T Single submitter Charcot-Marie-Tooth disease type 1
c.-125C>T Single submitter
c.-211T>C Single submitter
c.-455C>G Single submitter
c.*17_*19del Single submitter
p.Ala128= Single submitter Charcot-Marie-Tooth disease type 1
p.Ala139= Single submitter Charcot-Marie-Tooth disease type 1
p.Ala187= Single submitter Charcot-Marie-Tooth disease type 1
p.Ala242= Single submitter
p.Ala304= Single submitter Charcot-Marie-Tooth disease type 1
p.Ala305= Single submitter Charcot-Marie-Tooth disease type 1
p.Ala307= Single submitter Charcot-Marie-Tooth disease type 1
p.Ala408= Single submitter Charcot-Marie-Tooth disease type 1
p.Ala430= Single submitter
p.Ala441= Single submitter Charcot-Marie-Tooth disease type 1
p.Ala6= Single submitter Charcot-Marie-Tooth disease type 1
p.Arg257= Single submitter Charcot-Marie-Tooth disease type 1
p.Arg269= Single submitter Charcot-Marie-Tooth disease type 1
p.Arg293= Single submitter Charcot-Marie-Tooth disease type 1
p.Arg349= Single submitter Charcot-Marie-Tooth disease type 1
p.Arg350= Single submitter Charcot-Marie-Tooth disease type 1
p.Arg359= Single submitter Charcot-Marie-Tooth disease type 1
p.Arg390= Single submitter Charcot-Marie-Tooth disease type 1
p.Asn142= Single submitter Charcot-Marie-Tooth disease type 1
p.Asp160= Single submitter Charcot-Marie-Tooth disease type 1
p.Asp254= Single submitter Charcot-Marie-Tooth disease type 1
p.Asp348= Single submitter Charcot-Marie-Tooth disease type 1
p.Asp57= Single submitter Charcot-Marie-Tooth disease type 1
p.Cys251= Single submitter Charcot-Marie-Tooth disease type 1
p.Cys347= Single submitter Charcot-Marie-Tooth disease type 1
p.Glu43= Single submitter Charcot-Marie-Tooth disease type 1
p.Gly123= Single submitter Charcot-Marie-Tooth disease type 1
p.Gly228= Single submitter Charcot-Marie-Tooth disease type 1
p.Gly275= Single submitter Charcot-Marie-Tooth disease type 1
p.Gly451= Single submitter Charcot-Marie-Tooth disease type 1
p.His336= Single submitter Charcot-Marie-Tooth disease type 1
p.His360= Single submitter Charcot-Marie-Tooth disease type 1
p.His392= Single submitter Charcot-Marie-Tooth disease type 1
p.His416= Single submitter Charcot-Marie-Tooth disease type 1
p.Ile113= Single submitter Charcot-Marie-Tooth disease type 1
p.Ile223= Single submitter Charcot-Marie-Tooth disease type 1
p.Leu144= Single submitter Charcot-Marie-Tooth disease type 1
p.Leu189= Single submitter Charcot-Marie-Tooth disease type 1
p.Leu238= Single submitter Charcot-Marie-Tooth disease type 1
p.Leu256= Single submitter Charcot-Marie-Tooth disease type 1
p.Leu294= Single submitter Charcot-Marie-Tooth disease type 1
p.Leu315= Single submitter Charcot-Marie-Tooth disease type 1
p.Leu357= Single submitter
p.Leu421= Single submitter Charcot-Marie-Tooth disease type 1
p.Leu44= Single submitter Charcot-Marie-Tooth disease type 1
p.Leu453= Single submitter Charcot-Marie-Tooth disease type 1
p.Leu466= Single submitter Charcot-Marie-Tooth disease type 1
p.Lys332= Single submitter Charcot-Marie-Tooth disease type 1
p.Phe188= Single submitter Charcot-Marie-Tooth disease type 1
p.Phe351= Single submitter Charcot-Marie-Tooth disease type 1
p.Phe398= Single submitter
p.Pro143= Single submitter Charcot-Marie-Tooth disease type 1
p.Pro167= Single submitter Charcot-Marie-Tooth disease type 1
p.Pro204= Single submitter Charcot-Marie-Tooth disease type 1
p.Pro259= Single submitter Charcot-Marie-Tooth disease type 1
p.Pro260= Single submitter Charcot-Marie-Tooth disease type 1
p.Pro264= Single submitter Charcot-Marie-Tooth disease type 1
p.Pro319= Single submitter Charcot-Marie-Tooth disease type 1
p.Pro330= Single submitter Charcot-Marie-Tooth disease type 1
p.Pro397= Single submitter Charcot-Marie-Tooth disease type 1
p.Ser210= Single submitter Charcot-Marie-Tooth disease type 1
p.Ser289= Single submitter Charcot-Marie-Tooth disease type 1
p.Ser354= Single submitter Charcot-Marie-Tooth disease type 1
p.Ser434= Single submitter Charcot-Marie-Tooth disease type 1
p.Ser442= Single submitter Charcot-Marie-Tooth disease type 1
p.Ser459= Single submitter Charcot-Marie-Tooth disease type 1
p.Thr157= Single submitter
p.Thr215= Single submitter Charcot-Marie-Tooth disease type 1
p.Thr241= Single submitter Charcot-Marie-Tooth disease type 1
p.Thr255= Single submitter Charcot-Marie-Tooth disease type 1
p.Thr255Ser Single submitter Inborn genetic diseases
p.Thr267= Single submitter Charcot-Marie-Tooth disease type 1
p.Thr281= Single submitter Charcot-Marie-Tooth disease type 1
p.Thr333= Single submitter Charcot-Marie-Tooth disease type 1
p.Thr440= Single submitter Charcot-Marie-Tooth disease type 1
p.Thr452= Single submitter Charcot-Marie-Tooth disease type 1
p.Thr475= Single submitter Charcot-Marie-Tooth disease type 1
p.Thr89= Single submitter Charcot-Marie-Tooth disease type 1
p.Tyr326= Single submitter Charcot-Marie-Tooth disease type 1
p.Tyr92= Single submitter Charcot-Marie-Tooth disease type 1

Uncertain significance 268

p.Ala303Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala308_Ala309dup Multiple submitters Charcot-Marie-Tooth disease type 4E
p.Ala308Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala399Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala467Thr Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Ala55Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg246Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg257Gln Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Arg426Gln Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Arg472Gly Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Arg69Lys Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Asn24Ser Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Asn328Ser Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Asn41Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn61Ser Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Asp237Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp245Asn Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Asp30Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys403Tyr Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Glu290Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly240Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly284Glu Multiple submitters ⚠
p.Gly464Val Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Gly46Val Multiple submitters Inborn genetic diseases ⚠
p.Gly56Arg Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Leu31Phe Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Lys414Glu Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Met64Val Multiple submitters Inborn genetic diseases ⚠
p.Pro148His Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Pro148Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro167Leu Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Pro203Leu Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Pro209Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro224Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro227Ser Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Pro276Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro283Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro292Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro341Leu Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Pro468Ser Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Pro47Ala Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Ser190Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser199dup Multiple submitters Charcot-Marie-Tooth disease type 1
p.Ser277Asn Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Ser428Arg Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Ser77Gly Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Thr137Asn Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Thr153Ile Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Thr157Ser Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Thr194Ile Multiple submitters Inborn genetic diseases ⚠
p.Val151Met Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
p.Val258Leu Multiple submitters Inborn genetic diseases ⚠
p.Val447Leu Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
c.-299G>A Single submitter Charcot-Marie-Tooth disease type 1D
c.-49A>G Single submitter Charcot-Marie-Tooth disease type 4E
c.-64A>C Single submitter Charcot-Marie-Tooth disease type 1D
c.*145T>A Single submitter Charcot-Marie-Tooth disease type 1D
c.*150A>G Single submitter Charcot-Marie-Tooth disease type 1D
c.*230G>T Single submitter Charcot-Marie-Tooth disease type 1D
c.*456G>A Single submitter Charcot-Marie-Tooth disease type 1D
c.*618T>C Single submitter Charcot-Marie-Tooth disease type 1D
c.*646C>T Single submitter Charcot-Marie-Tooth disease type 1D
c.*655G>A Single submitter Charcot-Marie-Tooth disease type 1D
c.*79C>A Single submitter Charcot-Marie-Tooth disease type 1D
c.*919G>C Single submitter Charcot-Marie-Tooth disease type 1D
p.Ala128_Ser129del Single submitter Charcot-Marie-Tooth disease type 1
p.Ala128Thr Single submitter Inborn genetic diseases ⚠
p.Ala139Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala139Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala187Glu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala187Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala201Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala285Gly Single submitter ⚠
p.Ala285Thr Single submitter ⚠
p.Ala304Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala305Thr Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala306Thr Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala307_Ala309del Single submitter Charcot-Marie-Tooth disease type 1
p.Ala308_Ala309del Single submitter Charcot-Marie-Tooth disease type 1
p.Ala309Pro Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala309Thr Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala32Gly Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala32Thr Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala33Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala408Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala42Asp Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala437Thr Single submitter ⚠
p.Ala4Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ala80Pro Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg246His Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg257Trp Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg269Cys Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg293Gln Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg293Trp Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg318Gln Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg318Pro Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg353Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg362Ter Single submitter Charcot-Marie-Tooth disease type 4E
p.Arg373Gln Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg373Gly Single submitter Inborn genetic diseases ⚠
p.Arg381Ser Single submitter Inborn genetic diseases ⚠
p.Arg405Gln Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg405Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg409Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg415Cys Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg415Gly Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg415His Single submitter ⚠
p.Arg472Trp Single submitter ⚠
p.Arg474Gln Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Arg474Trp Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Asn114Asp Single submitter ⚠
p.Asn142Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Asn270Asp Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Asn52His Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Asp160Val Single submitter ⚠
p.Asp162Gly Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Asp180Ala Single submitter ⚠
p.Asp184Gly Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Asp245His Single submitter ⚠
p.Asp355Glu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Asp401Glu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Asp72Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Asp8His Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Cys177Arg Single submitter Inborn genetic diseases ⚠
p.Cys400Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Cys403Gly Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Cys443Tyr Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Cys454Gly Single submitter Charcot-Marie-Tooth disease type 1D ⚠
p.Gln122Ter Single submitter Charcot-Marie-Tooth disease type 1
p.Gln183His Single submitter Inborn genetic diseases ⚠
p.Gln423Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Glu29Ala Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Glu337Gln Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Glu395Gln Single submitter Charcot-Marie-Tooth disease ⚠
p.Glu425fs Single submitter Charcot-Marie-Tooth disease type 1
p.Glu67Asp Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Gly104Asp Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Gly119Ala Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Gly123Glu Single submitter Inborn genetic diseases ⚠
p.Gly16Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Gly179Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Gly240Asp Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Gly240Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Gly282Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Gly284Arg Single submitter Inborn genetic diseases ⚠
p.Gly53Ter Single submitter Charcot-Marie-Tooth disease type 1
p.His239Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.His313Arg Single submitter Charcot-Marie-Tooth disease ⚠
p.His364dup Single submitter Charcot-Marie-Tooth disease type 1
p.His364Tyr Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.His420Gln Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ile25Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ile25Thr Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ile25Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ile320Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ile361Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ile363Asn Single submitter ⚠
p.Ile62Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ile98Thr Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ile98Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Leu14Phe Single submitter ⚠
p.Leu181Phe Single submitter Charcot-Marie-Tooth disease type 1D ⚠
p.Leu262Arg Single submitter Inborn genetic diseases ⚠
p.Leu273Pro Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Leu31Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Leu73Ile Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Lys424fs Single submitter Charcot-Marie-Tooth disease type 1
p.Lys5Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Lys68dup Single submitter Charcot-Marie-Tooth disease type 1
p.Lys68Gln Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Met154Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Met1Ile Single submitter
p.Met222Val Single submitter ⚠
p.Met376Arg Single submitter ⚠
p.Met51Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Met93Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Phe17Leu Single submitter ⚠
p.Phe398Leu Single submitter ⚠
p.Phe39Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Phe79Ile Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro103Ala Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro103Leu Single submitter ⚠
p.Pro103Ser Single submitter ⚠
p.Pro127Ala Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro127Leu Single submitter Charcot-Marie-Tooth disease type 1D ⚠
p.Pro141Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro143Gln Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro159Thr Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro169fs Single submitter Charcot-Marie-Tooth disease type 1
p.Pro169Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro169Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro172Ala Single submitter ⚠
p.Pro173_Tyr174delinsHis Single submitter Charcot-Marie-Tooth disease type 1
p.Pro173del Single submitter Charcot-Marie-Tooth disease type 1
p.Pro173dup Single submitter Charcot-Marie-Tooth disease type 1
p.Pro205Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro213Ser Single submitter ⚠
p.Pro231Leu Single submitter Inborn genetic diseases ⚠
p.Pro244Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro259Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro260His Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro27Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro292Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro312Arg Single submitter Inborn genetic diseases ⚠
p.Pro316Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro339Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro341Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro341Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro369Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro40Ser Single submitter Inborn genetic diseases ⚠
p.Pro449Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro47Leu Single submitter ⚠
p.Pro47Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Pro74Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ser133Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ser155Phe Single submitter ⚠
p.Ser15Arg Single submitter ⚠
p.Ser175Tyr Single submitter Charcot-Marie-Tooth disease type 1D ⚠
p.Ser190Pro Single submitter ⚠
p.Ser197Ala Single submitter Inborn genetic diseases ⚠
p.Ser22Cys Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ser331Gly Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ser429Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ser432Thr Single submitter Charcot-Marie-Tooth disease type 3 ⚠
p.Ser439fs Single submitter Charcot-Marie-Tooth disease type 1
p.Ser439Phe Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ser456Cys Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ser460Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ser460fs Single submitter Charcot-Marie-Tooth disease type 1
p.Ser470Ala Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Ter477Ser Single submitter Charcot-Marie-Tooth disease type 1
p.Thr125Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Thr130Ala Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Thr13Ala Single submitter Inborn genetic diseases ⚠
p.Thr153Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Thr241Ala Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Thr241Arg Single submitter Inborn genetic diseases ⚠
p.Thr267Lys Single submitter Inborn genetic diseases ⚠
p.Thr272Ile Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Thr358Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Thr387Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Thr387Ile Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Thr391Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Thr393Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Thr440Ile Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Thr452Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Thr473Ile Single submitter Inborn genetic diseases ⚠
p.Thr65Ala Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Thr91Ile Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Tyr108His Single submitter ⚠
p.Tyr182His Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Tyr226Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Tyr26Cys Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Tyr310Cys Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Tyr402Cys Single submitter Inborn genetic diseases ⚠
p.Tyr75His Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Val18fs Single submitter
p.Val18Gly Single submitter Charcot-Marie-Tooth disease type 1 ⚠
p.Val435Leu Single submitter ⚠
p.Arg353Gly No assertion criteria Charcot-Marie-Tooth disease type 1D ⚠
p.Asp355Val No assertion criteria Charcot-Marie-Tooth disease ⚠
p.Asp383His No assertion criteria Charcot-Marie-Tooth disease ⚠
p.Asp383Tyr No assertion criteria Charcot-Marie-Tooth disease type 1D ⚠
p.Cys400_Asp401delinsTer No assertion criteria Charcot-Marie-Tooth disease
p.Gly275Val No assertion criteria EGR2-related disorder ⚠
p.His314Pro No assertion criteria Charcot-Marie-Tooth disease ⚠
p.Met51Thr No assertion criteria Spastic paraplegia ⚠
p.Ser382Arg No assertion criteria Charcot-Marie-Tooth disease type 1D ⚠