Sugi Variant

Sugi Variant/MPZ

MPZ — 681 ClinVar variants

All ClinVar germline MPZ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 293 flagged for review →

95 Pathogenic · 41 Pathogenic/Likely pathogenic · 50 Likely pathogenic · 66 Conflicting · 11 Benign · 5 Benign/Likely benign · 93 Likely benign · 320 Uncertain significance

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

⚑ Evidence disagreements 293

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 3

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

Predictors agree, ClinVar conflicts 31

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

Predictors lean, ClinVar uncertain 172

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 172

Predictors split 87

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

All MPZ variants

Pathogenic 95

  • c.584+2T>G Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Ala189fs Multiple submitters Charcot-Marie-Tooth disease type 3
  • p.Arg186fs Multiple submitters neuropathy, congenital hypomyelinating, 2
  • p.Arg98Cys Multiple submitters MPZ-related disorder
  • p.Asn131Lys Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
  • p.Asp121Asn Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
  • p.Asp61Asn Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
  • p.Asp90Glu Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
  • p.Gly137= Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Gly163Arg Multiple submitters MPZ-related Charcot-Marie-Tooth
  • p.Gly167Arg Multiple submitters MPZ-related disorder
  • p.His81Arg Multiple submitters Charcot-Marie-Tooth disease type 2I ⚠
  • p.Ile135Thr Multiple submitters MPZ-related disorder
  • p.Ile30Met Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Ile99Thr Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Leu144fs Multiple submitters MPZ-related disorder
  • p.Met1Val Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Pro132Ala Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Pro26fs Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Ser44Phe Multiple submitters MPZ-related disorder
  • p.Ser63Cys Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Ser63del Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Thr124Met Multiple submitters MPZ-related disorder
  • p.Trp101fs Multiple submitters Inborn genetic diseases
  • p.Trp101Ter Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Tyr145Ser Multiple submitters MPZ-related disorder ⚠
  • p.Tyr82Cys Multiple submitters Charcot-Marie-Tooth disease
  • c.234+1G>A Single submitter Charcot-Marie-Tooth disease type 1B
  • c.449-1G>C Single submitter Charcot-Marie-Tooth disease type 1
  • c.585-2A>T Single submitter
  • c.645+2T>C Single submitter Charcot-Marie-Tooth disease type 1
  • c.67+1G>A Single submitter
  • p.Ala5fs Single submitter
  • p.Arg227Ter Single submitter Charcot-Marie-Tooth disease type 1
  • p.Asn131Ser Single submitter Charcot-Marie-Tooth disease type 1
  • p.Asp109Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Asp128delinsGluTer Single submitter Charcot-Marie-Tooth disease type 1
  • p.Asp134Val Single submitter Charcot-Marie-Tooth disease type 1B
  • p.Asp61fs Single submitter Inborn genetic diseases
  • p.Asp75Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Cys50Phe Single submitter
  • p.Gln100Ter Single submitter Charcot-Marie-Tooth disease type 1
  • p.Gln141Ter Single submitter Charcot-Marie-Tooth disease type 2I
  • p.Gln191Ter Single submitter Charcot-Marie-Tooth disease type 1
  • p.Gln86Ter Single submitter Charcot-Marie-Tooth disease type 1
  • p.Glu71Ter Single submitter Charcot-Marie-Tooth disease type 1
  • p.Gly213fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.His115fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.Ile112fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.Ile135Arg Single submitter
  • p.Ile135Leu Single submitter Charcot-Marie-Tooth disease type 1B
  • p.Ile62Phe Single submitter ⚠
  • p.Leu144_Tyr145delinsHis Single submitter Charcot-Marie-Tooth disease type 1
  • p.Leu166fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.Leu170fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.Leu48Gln Single submitter Charcot-Marie-Tooth disease
  • p.Lys108fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.Lys138fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.Lys201Ter Single submitter Charcot-Marie-Tooth disease type 1
  • p.Lys96Glu Single submitter Charcot-Marie-Tooth disease type 1
  • p.Phe176fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.Phe52Val Single submitter Charcot-Marie-Tooth disease type 1
  • p.Pro132Leu Single submitter Charcot-Marie-Tooth disease
  • p.Pro205fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.Pro70Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Ser111Tyr Single submitter Charcot-Marie-Tooth disease type 1
  • p.Ser11fs Single submitter Charcot-Marie-Tooth disease dominant intermediate D
  • p.Ser140Phe Single submitter Charcot-Marie-Tooth disease type 1
  • p.Ser44_Thr47del Single submitter Charcot-Marie-Tooth disease type 1
  • p.Ser78fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.Ser78Ter Single submitter Charcot-Marie-Tooth disease
  • p.Ser7Ter Single submitter Charcot-Marie-Tooth disease type 1
  • p.Thr34_Asp35del Single submitter Charcot-Marie-Tooth disease type 1
  • p.Thr65Ile Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Trp101_Val102insTer Single submitter Charcot-Marie-Tooth disease type 2J
  • p.Trp57Ter Single submitter Charcot-Marie-Tooth disease type 1
  • p.Trp66Ter Single submitter Charcot-Marie-Tooth disease
  • p.Tyr154Ter Single submitter Inborn genetic diseases
  • p.Tyr68Ter Single submitter Charcot-Marie-Tooth disease type 1
  • p.Tyr88Ter Single submitter Charcot-Marie-Tooth disease type 1
  • p.Val102fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.Val142fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.Val146Ala Single submitter Charcot-Marie-Tooth disease type 1
  • p.Val165fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.Val178fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.Val179fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.Val23fs Single submitter Charcot-Marie-Tooth disease type 1
  • p.Val38fs Single submitter
  • p.Val92= Single submitter Charcot-Marie-Tooth disease type 1
  • c.646-7_647delinsGCAGGAGAG No assertion criteria Charcot-Marie-Tooth disease type 1B
  • c.68-5_71del No assertion criteria Charcot-Marie-Tooth disease
  • p.Arg192fs No assertion criteria Charcot-Marie-Tooth disease
  • p.Gln187fs No assertion criteria Charcot-Marie-Tooth disease
  • p.Gln215Ter No assertion criteria neuropathy, congenital hypomyelinating, 2
  • p.Thr124Lys No assertion criteria neuropathy, congenital hypomyelinating, 2

Pathogenic/Likely pathogenic 41

  • c.235-1G>T Multiple submitters Charcot-Marie-Tooth disease type 1
  • c.448+1G>A Multiple submitters Inborn genetic diseases
  • c.68-1G>A Multiple submitters Inborn genetic diseases
  • c.68-1G>C Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Arg227Ser Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
  • p.Arg67fs Multiple submitters MPZ-related disorder
  • p.Arg98His Multiple submitters MPZ-related disorder
  • p.Arg98Pro Multiple submitters Inborn genetic diseases
  • p.Asp104fs Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Asp224Tyr Multiple submitters Inborn genetic diseases
  • p.Asp35Tyr Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
  • p.Asp61Gly Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
  • p.Cys127Ser Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Cys127Tyr Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Glu37Lys Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Glu91fs Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Gly103= Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Gly137Asp Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Gly137Val Multiple submitters Charcot-Marie-Tooth disease
  • p.Gly85Ter Multiple submitters MPZ-related disorder
  • p.Gly93Arg Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Gly93Glu Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.His39Pro Multiple submitters MPZ-related disorder ⚠
  • p.Ile162fs Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Ile30Thr Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Pro105Leu Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Pro132Ser Multiple submitters Charcot-Marie-Tooth disease type 1B
  • p.Pro133Thr Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Ser140Thr Multiple submitters MPZ-related polyneuropathy ⚠
  • p.Ser233fs Multiple submitters MPZ-related disorder
  • p.Ser44fs Multiple submitters MPZ-related disorder
  • p.Ser51Phe Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Ser63Phe Multiple submitters Charcot-Marie-Tooth disease
  • p.Ser78Leu Multiple submitters MPZ-related disorder
  • p.Ser78Trp Multiple submitters MPZ-related disorder
  • p.Thr216fs Multiple submitters Inborn genetic diseases
  • p.Thr65Asn Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
  • p.Tyr145fs Multiple submitters Inborn genetic diseases
  • p.Tyr145Ter Multiple submitters MPZ-related disorder
  • p.Tyr82His Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Tyr82Ser Multiple submitters MPZ-related disorder

Likely pathogenic 50

  • c.448+1G>T Multiple submitters Charcot-Marie-Tooth disease type 1
  • c.448+2T>G Multiple submitters Charcot-Marie-Tooth disease
  • c.68-2A>C Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Gly137Ser Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Pro133Ala Multiple submitters Roussy-Levy syndrome
  • p.Pro133Arg Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Pro133Ser Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Ser111Cys Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Thr65Ala Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
  • p.Trp101Arg Multiple submitters Charcot-Marie-Tooth disease type 1B
  • c.235-2A>C Single submitter Charcot-Marie-Tooth disease type 1
  • c.235-2A>G Single submitter Charcot-Marie-Tooth disease type 1
  • c.448+2T>A Single submitter Charcot-Marie-Tooth disease type 1
  • c.448+2T>C Single submitter Charcot-Marie-Tooth disease type 1
  • c.449-2A>G Single submitter Charcot-Marie-Tooth disease type 1B
  • c.584+1G>A Single submitter MPZ-related disorder
  • c.585-2A>G Single submitter Charcot-Marie-Tooth disease type 1B
  • p.Ala188fs Single submitter Charcot-Marie-Tooth disease type 3
  • p.Arg67Pro Single submitter Charcot-Marie-Tooth disease type 1
  • p.Asn131fs Single submitter Roussy-Levy syndrome
  • p.Asp128Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Cys50dup Single submitter
  • p.Cys50Gly Single submitter Charcot-Marie-Tooth disease type 1
  • p.Gly110Asp Single submitter Charcot-Marie-Tooth disease type 1
  • p.Gly123Asp Single submitter Charcot-Marie-Tooth disease type 3
  • p.Gly206fs Single submitter
  • p.Gly40Ser Single submitter Charcot-Marie-Tooth disease type 3
  • p.Gly85Ala Single submitter
  • p.Gly85Arg Single submitter ⚠
  • p.His81Tyr Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Ile112Ser Single submitter
  • p.Ile112Thr Single submitter Charcot-Marie-Tooth disease type 1
  • p.Ile135Met Single submitter MPZ-related disorder
  • p.Ile30Ser Single submitter Charcot-Marie-Tooth disease type 1
  • p.Leu48Val Single submitter Charcot-Marie-Tooth disease type 1
  • p.Lys201fs Single submitter Inborn genetic diseases
  • p.Phe52Leu Single submitter Charcot-Marie-Tooth disease type 1
  • p.Phe64del Single submitter Charcot-Marie-Tooth disease type 1B
  • p.Pro133Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate D
  • p.Ser140Cys Single submitter Charcot-Marie-Tooth disease type 1
  • p.Ser233Arg Single submitter Roussy-Levy syndrome ⚠
  • p.Ser44Pro Single submitter motor neuron disorder
  • p.Ser9fs Single submitter
  • p.Trp101Cys Single submitter MPZ-related disorder
  • p.Trp183Ter Single submitter Charcot-Marie-Tooth disease
  • p.Trp53Ter Single submitter
  • p.Tyr220Ter Single submitter Charcot-Marie-Tooth disease type 2I
  • p.Val38Asp Single submitter Charcot-Marie-Tooth disease type 1
  • c.646-2A>C No assertion criteria peripheral neuropathy
  • p.Ser25fs No assertion criteria Charcot-Marie-Tooth disease dominant intermediate D

Conflicting classifications of pathogenicity 66

  • c.585-7_585-5del Single submitter Charcot-Marie-Tooth disease type 1
  • c.646-10_650del Single submitter Charcot-Marie-Tooth disease type 1
  • c.646-2A>G Single submitter Charcot-Marie-Tooth disease type 1
  • c.646-3C>G Single submitter MPZ-related disorder
  • c.646-5C>G Single submitter Charcot-Marie-Tooth disease type 1
  • c.646-7C>G Single submitter Charcot-Marie-Tooth disease type 1
  • c.68-5T>G Single submitter Inborn genetic diseases
  • c.-49C>A Single submitter Charcot-Marie-Tooth disease type 1B
  • c.*102C>T Single submitter Roussy-Levy syndrome
  • c.*1048A>T Single submitter neuropathy, congenital hypomyelinating, 2
  • c.*195G>T Single submitter neuropathy, congenital hypomyelinating, 2
  • c.*360C>G Single submitter Charcot-Marie-Tooth disease type 1B
  • c.*52G>A Single submitter neuropathy, congenital hypomyelinating, 2
  • c.*743C>T Single submitter neuropathy, congenital hypomyelinating, 2
  • p.Arg106Cys Single submitter Inborn genetic diseases
  • p.Arg214Gln Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Arg36Gly Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Arg36Trp Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Arg45Gln Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Arg45Trp Single submitter Charcot-Marie-Tooth disease dominant intermediate D ⚠
  • p.Arg67His Single submitter neuropathy, congenital hypomyelinating, 2 ⚠
  • p.Arg98Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Asn122Asp Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Asn131His Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Asp121Gly Single submitter Charcot-Marie-Tooth disease type 1B ⚠
  • p.Asp134Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Asp35Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Asp35Gly Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Asp60His Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Gln215= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Glu234Ter Single submitter Charcot-Marie-Tooth disease type 1
  • p.Glu56Lys Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Glu71Lys Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Glu91Lys Single submitter Charcot-Marie-Tooth disease
  • p.Gly103Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly213Arg Single submitter Inborn genetic diseases
  • p.His39Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Ile114Thr Single submitter MPZ-related disorder ⚠
  • p.Ile30Val Single submitter Inborn genetic diseases ⚠
  • p.Ile62Met Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Leu219= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Lys130Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Lys130Glu Single submitter ⚠
  • p.Lys138Glu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Lys236del Single submitter Inborn genetic diseases
  • p.Phe95Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Pro105Thr Single submitter Charcot-Marie-Tooth disease type 1
  • p.Pro151Thr Single submitter Charcot-Marie-Tooth disease type 4E
  • p.Pro26Leu Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Pro70Thr Single submitter Charcot-Marie-Tooth disease
  • p.Ser111Phe Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Ser111Pro Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Ser140Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate D ⚠
  • p.Ser54Cys Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Ser59Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Thr152Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr34Ile Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Tyr119Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr145Cys Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Tyr220Cys Single submitter MPZ-related disorder ⚠
  • p.Val129Ile Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Val142Phe Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Val32Phe Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Val58Asp Single submitter Charcot-Marie-Tooth disease type 1 ⚠
  • p.Gly123Ser No assertion criteria Charcot-Marie-Tooth disease ⚠
  • p.Leu184fs No assertion criteria neuropathy, congenital hypomyelinating, 2

Benign 11

Benign/Likely benign 5

  • c.*568C>G Multiple submitters Charcot-Marie-Tooth disease type 1B
  • c.*624C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate D
  • p.Ser228= Multiple submitters Charcot-Marie-Tooth disease
  • p.Ser8= Multiple submitters Charcot-Marie-Tooth disease
  • p.Val168= Multiple submitters Charcot-Marie-Tooth disease

Likely benign 93

  • c.235-166C>T Multiple submitters
  • c.449-12C>T Multiple submitters Charcot-Marie-Tooth disease type 1
  • c.449-9C>T Multiple submitters Charcot-Marie-Tooth disease type 1
  • c.645+10A>G Multiple submitters Charcot-Marie-Tooth disease
  • c.645+12T>C Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Ala221= Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Asp118= Multiple submitters Inborn genetic diseases
  • p.Asp128= Multiple submitters Inborn genetic diseases
  • p.Asp90= Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Lys236= Multiple submitters Inborn genetic diseases
  • p.Tyr177= Multiple submitters Charcot-Marie-Tooth disease type 1
  • p.Val161= Multiple submitters Inborn genetic diseases
  • c.234+12G>A Single submitter Charcot-Marie-Tooth disease type 1
  • c.234+13G>A Single submitter Charcot-Marie-Tooth disease type 1
  • c.234+14G>A Single submitter Charcot-Marie-Tooth disease type 1
  • c.234+16A>T Single submitter Charcot-Marie-Tooth disease type 1
  • c.235-7C>T Single submitter
  • c.448+10G>A Single submitter Charcot-Marie-Tooth disease type 1
  • c.448+13A>T Single submitter Charcot-Marie-Tooth disease type 1
  • c.448+17G>A Single submitter Charcot-Marie-Tooth disease type 1
  • c.448+19A>G Single submitter Charcot-Marie-Tooth disease type 1
  • c.449-10C>T Single submitter Charcot-Marie-Tooth disease type 1
  • c.449-14C>T Single submitter Charcot-Marie-Tooth disease type 1
  • c.449-63G>A Single submitter
  • c.584+10G>C Single submitter Charcot-Marie-Tooth disease type 1
  • c.584+16dup Single submitter Charcot-Marie-Tooth disease type 1
  • c.584+18G>C Single submitter Charcot-Marie-Tooth disease type 1
  • c.584+8G>A Single submitter Charcot-Marie-Tooth disease type 1
  • c.585-12C>G Single submitter Charcot-Marie-Tooth disease type 1
  • c.585-15T>C Single submitter Charcot-Marie-Tooth disease type 1
  • c.585-19G>A Single submitter Charcot-Marie-Tooth disease type 1
  • c.585-5T>C Single submitter Charcot-Marie-Tooth disease type 1
  • c.585-8T>A Single submitter Charcot-Marie-Tooth disease type 1
  • c.585-8T>C Single submitter Charcot-Marie-Tooth disease type 1
  • c.645+16G>A Single submitter Charcot-Marie-Tooth disease type 1
  • c.646-12C>A Single submitter Charcot-Marie-Tooth disease type 1
  • c.646-13G>T Single submitter Charcot-Marie-Tooth disease type 1
  • c.646-20T>G Single submitter Charcot-Marie-Tooth disease type 1
  • c.646-5C>A Single submitter Charcot-Marie-Tooth disease type 1
  • c.646-7C>T Single submitter Charcot-Marie-Tooth disease type 1
  • c.67+10G>A Single submitter Charcot-Marie-Tooth disease type 1
  • c.67+15T>A Single submitter Charcot-Marie-Tooth disease type 1
  • c.67+285_67+286insT Single submitter
  • c.-34_-17del Single submitter
  • c.*1C>T Single submitter Charcot-Marie-Tooth disease
  • p.Ala231Thr Single submitter Charcot-Marie-Tooth disease type 1
  • p.Arg185= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Arg186= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Arg193= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Arg45= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Arg67= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Asp246= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Cys50= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Glu56= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Gly163= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Gly72= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Gly93= Single submitter Charcot-Marie-Tooth disease type 1
  • p.His81= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Ile30= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Ile99= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Leu14= Single submitter
  • p.Leu166= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Leu17= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Leu184= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Leu202= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Leu48= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Lys199= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Lys248= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Pro217= Single submitter
  • p.Pro26= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Pro6= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Pro70= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Ser111= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Ser25= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Ser54= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Thr124= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Thr126= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Thr139= Single submitter
  • p.Thr143= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Thr216= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Thr229= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Thr34= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Thr65= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Thr94= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Tyr181= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Val102= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Val142= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Val156= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Val218= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Val38= Single submitter Charcot-Marie-Tooth disease type 1
  • p.Val58= Single submitter Charcot-Marie-Tooth disease
  • c.*157C>G No assertion criteria MPZ-related disorder
  • c.*25C>G No assertion criteria MPZ-related disorder

Uncertain significance 320

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