PMP22 — 411 ClinVar variants
All ClinVar germline PMP22 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →
51 Pathogenic · 12 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 29 Conflicting · 17 Benign · 9 Benign/Likely benign · 94 Likely benign · 173 Uncertain significance
Full PMP22 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 130
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 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PMP22 p.Ala35Thr
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Gln103Arg
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Gly100Val
Conflicting
Single submitter
PMP22-related disorder
-
PMP22 p.Gly150Cys
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.His51Arg
Conflicting
Single submitter
Charcot-Marie-Tooth disease
-
PMP22 p.Ile137Val
Conflicting
Single submitter
Inborn genetic diseases
-
PMP22 p.Leu78Pro
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Met69Thr
Conflicting
Single submitter
Inborn genetic diseases
-
PMP22 p.Pro122Leu
Conflicting
Single submitter
Inborn genetic diseases
-
PMP22 p.Ser131Cys
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1A
-
PMP22 p.Ser76Arg
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Thr118Met
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Trp140Arg
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
PMP22 p.Ser7fs
Conflicting
No assertion criteria
Charcot-Marie-Tooth disease
Predictors lean, ClinVar uncertain 78
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PMP22 p.Ala113Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PMP22 p.Ala113Val
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Ala115Val
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Cys42Arg
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Cys42Tyr
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Gly93Ala
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Gly94Ser
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Ile101Leu
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Leu138Pro
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Leu62Arg
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Leu71Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PMP22 p.Leu87Pro
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 3
-
PMP22 p.Met111Thr
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Pro58Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PMP22 p.Ser128Leu
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Ser22Tyr
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Thr23Met
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Trp28Cys
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Tyr136Ser
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease
-
PMP22 p.Tyr153Cys
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Val25Ile
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Ala106Asp
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
- PMP22 p.Ala106Ser Uncertain significance Single submitter
- PMP22 p.Ala113Pro Uncertain significance Single submitter
-
PMP22 p.Ala115Asp
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
- PMP22 p.Ala35Gly Uncertain significance Single submitter
-
PMP22 p.Asn127Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
- PMP22 p.Asp129Tyr Uncertain significance Single submitter
-
PMP22 p.Cys42Phe
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Cys53Tyr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Gly107Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Gly150Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PMP22 p.Gly33Glu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Gly93Trp
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.His121Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1A
-
PMP22 p.His125Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.His12Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.His34Gln
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1A
- PMP22 p.Ile101Val Uncertain significance Single submitter
-
PMP22 p.Ile152Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Ile77Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Ile98Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Ile9Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Leu105Pro
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1A
-
PMP22 p.Leu11Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Leu126Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Leu156Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease
- PMP22 p.Leu19Arg Uncertain significance Single submitter
-
PMP22 p.Pro58Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
- PMP22 p.Ser131Phe Uncertain significance Single submitter
- PMP22 p.Ser131Tyr Uncertain significance Single submitter
-
PMP22 p.Ser22Pro
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Ser45Phe
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Thr36Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PMP22 p.Thr44Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Thr99Ile
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Trp28Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Trp28Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1E
-
PMP22 p.Tyr117Cys
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Tyr132Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- PMP22 p.Tyr136Asn Uncertain significance Single submitter
-
PMP22 p.Tyr136Cys
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Val110Met
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Val13Ala
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Arg157Gly
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease
-
PMP22 p.Cys109Arg
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease
-
PMP22 p.Gln66Pro
Uncertain significance
No assertion criteria
hereditary neuropathy with liability to pressure palsies
-
PMP22 p.Gly100Glu
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease type 3
-
PMP22 p.Leu105Arg
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease
-
PMP22 p.Leu147Arg
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease
-
PMP22 p.Leu18Arg
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease
-
PMP22 p.Leu19Pro
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease type 3
-
PMP22 p.Leu71Pro
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease type 3
-
PMP22 p.Leu80Arg
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease type 3
-
PMP22 p.Leu80Pro
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease type 3
-
PMP22 p.Ser76Ile
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease type 3
-
PMP22 p.Trp39Cys
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease
-
PMP22 p.Val65Phe
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease
Predictors split 38
The independent predictors disagree with each other — read with care.
-
PMP22 p.Ala114Val
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Ala135Thr
Benign/Likely benign
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Arg159Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PMP22 p.Arg159His
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Arg95Lys
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease
-
PMP22 p.Cys85Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PMP22 p.Glu160Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PMP22 p.Glu60Lys
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Gly133Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PMP22 p.Gly93Arg
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Ile24Met
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Ser64Phe
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Ala106Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Ala67Thr
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Arg157Gln
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Arg159Pro
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Asp37Asn
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
- PMP22 p.Asp37His Uncertain significance Single submitter
- PMP22 p.Gln63Arg Uncertain significance Single submitter
-
PMP22 p.Gly133Ala
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
- PMP22 p.Gly133Asp Uncertain significance Single submitter
-
PMP22 p.His12Gln
Pathogenic
Single submitter
Charcot-Marie-Tooth disease type 1
- PMP22 p.Ile73Asn Uncertain significance Single submitter
-
PMP22 p.Ile8Asn
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
- PMP22 p.Ile9Asn Uncertain significance Single submitter
-
PMP22 p.Leu38Pro
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
- PMP22 p.Leu5Phe Uncertain significance Single submitter
-
PMP22 p.Leu80Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PMP22 p.Leu82Pro
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Phe20Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PMP22 p.Phe81Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Ser112Arg
Uncertain significance
Single submitter
PMP22-related disorder
-
PMP22 p.Trp124Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Tyr97Cys
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Val141Gly
Uncertain significance
Single submitter
Roussy-Levy syndrome
-
PMP22 p.Val141Met
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Val30Met
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1
-
PMP22 p.Asp37Val
Pathogenic
No assertion criteria
Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths
All PMP22 variants
Pathogenic 51
- p.Cys109Ter Multiple submitters Charcot-Marie-Tooth disease
- p.Gln103Ter Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Gln86Ter Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Gly150Asp Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Gly150Val Multiple submitters Charcot-Marie-Tooth disease type 1
- p.His12Arg Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Ser149Arg Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Ser72Leu Multiple submitters PMP22-related disorder
- p.Trp28Ter Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Trp39Ter Multiple submitters
- p.Trp61Ter Multiple submitters PMP22-related disorder
- c.160_178+78delinsGGAC Single submitter Charcot-Marie-Tooth disease type 1
- c.179-2A>G Single submitter Charcot-Marie-Tooth disease
- c.319+1G>A Single submitter Charcot-Marie-Tooth disease type 1
- c.319+1G>T Single submitter Charcot-Marie-Tooth disease type 1
- c.319+2T>G Single submitter Charcot-Marie-Tooth disease type 1
- c.78+1G>A Single submitter Charcot-Marie-Tooth disease type 1
- c.78+1G>C Single submitter Charcot-Marie-Tooth disease type 1
- c.78+2T>C Single submitter Charcot-Marie-Tooth disease type 1
- c.79-2A>G Single submitter Charcot-Marie-Tooth disease
- c.(?_-1 Single submitter Charcot-Marie-Tooth disease type 1
- c.-34-?_*1140dup1657 Single submitter Charcot-Marie-Tooth disease type 1
- p.Gly100Arg Single submitter Charcot-Marie-Tooth disease type 3
- p.Gly107fs Single submitter Charcot-Marie-Tooth disease type 1
- p.Gly94fs Single submitter Charcot-Marie-Tooth disease type 1
- p.His12Gln Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.His12Pro Single submitter
- p.Ile24fs Single submitter Charcot-Marie-Tooth disease type 1
- p.Leu16Pro Single submitter Charcot-Marie-Tooth disease type 1
- p.Leu18fs Single submitter Charcot-Marie-Tooth disease type 1
- p.Leu82fs Single submitter Charcot-Marie-Tooth disease type 1
- p.Phe75fs Single submitter Charcot-Marie-Tooth disease type 1
- p.Phe88fs Single submitter Charcot-Marie-Tooth disease type 1
- p.Pro144fs Single submitter Charcot-Marie-Tooth disease type 1
- p.Ser112fs Single submitter Charcot-Marie-Tooth disease type 1
- p.Ser131_Tyr132insTer Single submitter Charcot-Marie-Tooth disease type 1
- p.Ser72Pro Single submitter Charcot-Marie-Tooth disease type 1
- p.Ser72Ter Single submitter Charcot-Marie-Tooth disease type 1
- p.Ser76fs Single submitter Charcot-Marie-Tooth disease type 1
- p.Ser79Cys Single submitter Charcot-Marie-Tooth disease type 1
- p.Ser79Phe Single submitter Charcot-Marie-Tooth disease type 1
- p.Ser79Pro Single submitter Charcot-Marie-Tooth disease type 1
- p.Thr23fs Single submitter
- p.Trp140Ter Single submitter Charcot-Marie-Tooth disease type 1
- p.Trp39fs Single submitter Charcot-Marie-Tooth disease type 1
- p.Trp61fs Single submitter Charcot-Marie-Tooth disease type 1
- p.Tyr117Ter Single submitter Charcot-Marie-Tooth disease type 1
- p.Asp37Val No assertion criteria Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths ⚠
- p.Leu80fs No assertion criteria DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
- p.Ser22Phe No assertion criteria Charcot-Marie-Tooth disease type 1A
- p.Ser26fs No assertion criteria Charcot-Marie-Tooth disease
Pathogenic/Likely pathogenic 12
- p.Ala67Pro Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Arg157Trp Multiple submitters Charcot-Marie-Tooth disease
- p.Arg95fs Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Gly107Val Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Gly150Arg Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Leu145fs Multiple submitters PMP22-related disorder
- p.Met69Lys Multiple submitters PMP22-related disorder
- p.Ser47fs Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Ser72Trp Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Thr23Arg Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Thr23Lys Multiple submitters Charcot-Marie-Tooth disease type 1A
- p.Tyr132Ter Multiple submitters
Likely pathogenic 26
- p.Pro144Arg Multiple submitters Charcot-Marie-Tooth disease type 1A
- p.Ser79Thr Multiple submitters Charcot-Marie-Tooth disease type 1A
- p.Trp28Arg Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Tyr130Ter Multiple submitters
- c.78+2_78+3del Single submitter
- c.78+2del Single submitter Charcot-Marie-Tooth disease type 1
- c.78+2dup Single submitter
- c.78+3G>T Single submitter hereditary neuropathy with liability to pressure palsies
- c.79-13T>A Single submitter PMP22-related disorder
- c.79-1G>A Single submitter Charcot-Marie-Tooth disease type 1
- p.Ala35fs Single submitter Charcot-Marie-Tooth disease type 1E
- p.Ala67Asp Single submitter
- p.Cys85Ter Single submitter Charcot-Marie-Tooth disease
- p.Gln86fs Single submitter Charcot-Marie-Tooth disease type 1E
- p.His12Tyr Single submitter Charcot-Marie-Tooth disease type 3
- p.Leu108Pro Single submitter Charcot-Marie-Tooth disease type 1
- p.Leu145Arg Single submitter Charcot-Marie-Tooth disease type 1
- p.Leu147Pro Single submitter Charcot-Marie-Tooth disease type 1
- p.Leu18_Leu19insValLeu Single submitter Charcot-Marie-Tooth disease type 1
- p.Met69Arg Single submitter Charcot-Marie-Tooth disease type 1
- p.Met69del Single submitter Charcot-Marie-Tooth disease type 1E
- p.Phe20_Val21del Single submitter PMP22-related disorder
- p.Ser57Ter Single submitter Charcot-Marie-Tooth disease
- p.Thr68fs Single submitter hereditary neuropathy with liability to pressure palsies
- p.Gly107Asp No assertion criteria PMP22-related disorder
- p.Leu19fs No assertion criteria peripheral neuropathy
Conflicting classifications of pathogenicity 29
- c.178+7C>A Single submitter Tip-toe gait
- c.179-13C>G Single submitter Charcot-Marie-Tooth disease
- c.320-4C>T Single submitter Charcot-Marie-Tooth disease type 1
- c.79-16A>C Single submitter Charcot-Marie-Tooth disease type 1
- c.-34-5C>T Single submitter Charcot-Marie-Tooth disease type 1
- c.*33G>A Single submitter Tip-toe gait
- c.*3C>T Single submitter Charcot-Marie-Tooth disease type 1
- c.*4G>A Single submitter
- p.Ala114= Single submitter Inborn genetic diseases
- p.Ala35Thr Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Ala67Thr Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Asn59= Single submitter Charcot-Marie-Tooth disease type 1
- p.Gln103Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Gly100Val Single submitter PMP22-related disorder ⚠
- p.Gly150Cys Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.His51Arg Single submitter Charcot-Marie-Tooth disease ⚠
- p.Ile137Val Single submitter Inborn genetic diseases ⚠
- p.Leu78Pro Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Leu82Pro Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Met69Thr Single submitter Inborn genetic diseases ⚠
- p.Phe84del Single submitter Charcot-Marie-Tooth disease type 1
- p.Pro122Leu Single submitter Inborn genetic diseases ⚠
- p.Ser131Cys Single submitter Charcot-Marie-Tooth disease type 1A ⚠
- p.Ser76Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Thr118Met Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Trp140Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Val30Met Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Ala115_Thr118del No assertion criteria Charcot-Marie-Tooth disease type 1E
- p.Ser7fs No assertion criteria Charcot-Marie-Tooth disease ⚠
Benign 17
- c.178+22A>G Multiple submitters Charcot-Marie-Tooth disease type 1
- c.179-17G>A Multiple submitters Charcot-Marie-Tooth disease type 1
- c.179-83T>C Multiple submitters Charcot-Marie-Tooth disease type 1
- c.319+33C>T Multiple submitters Charcot-Marie-Tooth disease type 1
- c.-34-294C>G Multiple submitters
- c.*200T>G Multiple submitters Charcot-Marie-Tooth disease type 1
- c.*59A>C Multiple submitters Charcot-Marie-Tooth disease
- c.*912G>A Multiple submitters Charcot-Marie-Tooth disease type 1
- c.320-31C>T Single submitter
- c.79-42C>G Single submitter
- c.-34-1503T>G Single submitter
- c.-74A>G Single submitter Charcot-Marie-Tooth disease type 1
- c.*105CAAAC[2] Single submitter
- c.*198C>G Single submitter
- c.*205C>A Single submitter
- c.*376C>T Single submitter Charcot-Marie-Tooth disease type 1
- c.*890C>T Single submitter Charcot-Marie-Tooth disease type 1
Benign/Likely benign 9
- c.79-6C>T Multiple submitters hereditary neuropathy with liability to pressure palsies
- c.-6G>T Multiple submitters
- c.-86A>C Multiple submitters Charcot-Marie-Tooth disease type 1
- c.*173C>T Multiple submitters Charcot-Marie-Tooth disease type 1
- c.*228G>A Multiple submitters
- c.*26T>C Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Ala135Thr Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Leu90Val Multiple submitters Inborn genetic diseases
- p.Tyr132= Multiple submitters Inborn genetic diseases
Likely benign 94
- c.319+200C>T Multiple submitters
- c.319+34G>A Multiple submitters
- c.79-120G>T Multiple submitters
- c.79-85C>T Multiple submitters
- c.-141C>G Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Ala106= Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Arg157= Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Arg159= Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Asn127= Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Cys109= Multiple submitters Charcot-Marie-Tooth disease type 1
- p.His34Tyr Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Ile137= Multiple submitters Inborn genetic diseases
- p.Ile24= Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Ile29= Multiple submitters Inborn genetic diseases
- p.Leu82= Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Phe134= Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Pro122= Multiple submitters Inborn genetic diseases
- p.Ser72= Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Thr118= Multiple submitters Charcot-Marie-Tooth disease type 1
- c.178+5559T>A Single submitter
- c.178+5571C>G Single submitter
- c.178+5571C>T Single submitter
- c.178+7C>G Single submitter Charcot-Marie-Tooth disease type 1
- c.179-15G>C Single submitter Charcot-Marie-Tooth disease type 1
- c.179-17G>C Single submitter Charcot-Marie-Tooth disease type 1
- c.179-20C>G Single submitter Charcot-Marie-Tooth disease type 1
- c.319+11G>A Single submitter Charcot-Marie-Tooth disease type 1
- c.319+139del Single submitter
- c.320-10C>T Single submitter Charcot-Marie-Tooth disease type 1
- c.320-12C>T Single submitter
- c.320-18G>A Single submitter Charcot-Marie-Tooth disease type 1
- c.320-2133T>C Single submitter
- c.320-2210G>A Single submitter
- c.320-2244T>C Single submitter
- c.320-30G>A Single submitter
- c.320-4184T>A Single submitter
- c.320-4C>G Single submitter Charcot-Marie-Tooth disease type 1
- c.320-69G>A Single submitter
- c.78+10T>C Single submitter Charcot-Marie-Tooth disease type 1
- c.78+16G>A Single submitter Charcot-Marie-Tooth disease type 1
- c.78+268C>T Single submitter
- c.78+44C>T Single submitter
- c.78+7G>A Single submitter Charcot-Marie-Tooth disease type 1
- c.78+9C>T Single submitter Charcot-Marie-Tooth disease type 1
- c.79-14C>G Single submitter Charcot-Marie-Tooth disease type 1
- c.79-16A>G Single submitter Charcot-Marie-Tooth disease type 1
- c.79-23del Single submitter
- c.79-23G>A Single submitter
- c.79-33C>G Single submitter
- c.79-4C>A Single submitter Charcot-Marie-Tooth disease type 1
- c.79-4C>G Single submitter Charcot-Marie-Tooth disease type 1
- c.79-8C>T Single submitter Charcot-Marie-Tooth disease type 1
- c.-23G>A Single submitter
- c.-23G>T Single submitter
- c.-34-18C>G Single submitter
- c.-8C>A Single submitter
- c.*1111G>T Single submitter
- c.*1120T>C Single submitter
- c.*11C>A Single submitter
- c.*577T>C Single submitter
- c.*828G>A Single submitter
- c.*8A>T Single submitter
- c.*92A>C Single submitter
- p.Ala115= Single submitter Charcot-Marie-Tooth disease type 1
- p.Ala14= Single submitter Charcot-Marie-Tooth disease type 1
- p.Ala142= Single submitter Charcot-Marie-Tooth disease type 1
- p.Ala146= Single submitter Charcot-Marie-Tooth disease type 1
- p.Asn32= Single submitter Charcot-Marie-Tooth disease type 1
- p.Asp129= Single submitter Charcot-Marie-Tooth disease type 1
- p.Gln63= Single submitter Charcot-Marie-Tooth disease type 1
- p.Glu123= Single submitter Charcot-Marie-Tooth disease type 1
- p.Glu160= Single submitter Charcot-Marie-Tooth disease type 1
- p.Glu60= Single submitter Charcot-Marie-Tooth disease type 1
- p.His12= Single submitter Charcot-Marie-Tooth disease type 1
- p.His34= Single submitter Charcot-Marie-Tooth disease type 1
- p.His51= Single submitter Charcot-Marie-Tooth disease type 1
- p.Leu145= Single submitter Charcot-Marie-Tooth disease type 1
- p.Leu4= Single submitter
- p.Leu6= Single submitter Charcot-Marie-Tooth disease type 1
- p.Leu78= Single submitter Charcot-Marie-Tooth disease type 1
- p.Leu80= Single submitter Charcot-Marie-Tooth disease type 1
- p.Leu87= Single submitter Charcot-Marie-Tooth disease type 1
- p.Ser128= Single submitter Charcot-Marie-Tooth disease type 1
- p.Ser131= Single submitter Charcot-Marie-Tooth disease type 1
- p.Ser149= Single submitter Charcot-Marie-Tooth disease type 1
- p.Ser46= Single submitter Charcot-Marie-Tooth disease type 1
- p.Ser56= Single submitter
- p.Ser7= Single submitter Charcot-Marie-Tooth disease type 1
- p.Thr23= Single submitter Charcot-Marie-Tooth disease type 1
- p.Thr89= Single submitter Charcot-Marie-Tooth disease type 1
- p.Thr91= Single submitter Charcot-Marie-Tooth disease type 1
- p.Tyr117= Single submitter Charcot-Marie-Tooth disease type 1
- p.Val110= Single submitter Charcot-Marie-Tooth disease type 1
- p.Val141= Single submitter Charcot-Marie-Tooth disease type 1
Uncertain significance 173
- c.179-3C>G Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Ala113Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala113Val Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Ala114Val Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Ala115Val Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Arg159Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg159His Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Arg95Lys Multiple submitters Charcot-Marie-Tooth disease ⚠
- p.Cys42Arg Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Cys42Tyr Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Cys85Trp Multiple submitters Inborn genetic diseases ⚠
- p.Glu160Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu60Lys Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Gly133Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly93Ala Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Gly93Arg Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Gly94Ser Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Ile101Leu Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Ile24Met Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Leu138Pro Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Leu62Arg Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Leu71Gln Multiple submitters Inborn genetic diseases ⚠
- p.Leu87Pro Multiple submitters Charcot-Marie-Tooth disease type 3 ⚠
- p.Met111Thr Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Pro58Gln Multiple submitters Inborn genetic diseases ⚠
- p.Ser128Leu Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Ser22Tyr Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Ser64Phe Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Thr23Met Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Thr68Ile Multiple submitters Inborn genetic diseases
- p.Trp28Cys Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Tyr136Ser Multiple submitters Charcot-Marie-Tooth disease ⚠
- p.Tyr153Cys Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- p.Val21Leu Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Val25Gly Multiple submitters Charcot-Marie-Tooth disease type 1
- p.Val25Ile Multiple submitters Charcot-Marie-Tooth disease type 1 ⚠
- c.178+5G>A Single submitter Charcot-Marie-Tooth disease type 1
- c.179-3C>T Single submitter Charcot-Marie-Tooth disease type 1
- c.319+3A>G Single submitter Charcot-Marie-Tooth disease type 1
- c.319+5G>A Single submitter Charcot-Marie-Tooth disease type 1
- c.320-27_320-6dup Single submitter Charcot-Marie-Tooth disease type 1
- c.320-2A>G Single submitter Charcot-Marie-Tooth disease type 1
- c.320-2A>T Single submitter Charcot-Marie-Tooth disease type 1
- c.78+4A>C Single submitter Inborn genetic diseases
- c.78+5G>C Single submitter Charcot-Marie-Tooth disease type 1
- c.-134G>A Single submitter Guillain-Barre syndrome, familial
- c.-34-126_52del Single submitter Charcot-Marie-Tooth disease type 1
- c.-35+2T>A Single submitter
- c.*1049C>G Single submitter Charcot-Marie-Tooth disease type 1
- c.*169T>C Single submitter
- c.*174G>A Single submitter Charcot-Marie-Tooth disease type 1
- c.*243C>T Single submitter Charcot-Marie-Tooth disease type 1
- c.*542C>T Single submitter Charcot-Marie-Tooth disease type 1
- c.*544C>T Single submitter Charcot-Marie-Tooth disease type 1
- c.*596G>T Single submitter Charcot-Marie-Tooth disease type 1
- c.*63A>C Single submitter Charcot-Marie-Tooth disease type 1
- c.*818T>C Single submitter Charcot-Marie-Tooth disease type 1
- c.*894C>T Single submitter Charcot-Marie-Tooth disease type 1
- c.*907C>A Single submitter Charcot-Marie-Tooth disease type 1
- c.*911C>T Single submitter Charcot-Marie-Tooth disease type 1
- c.*961C>G Single submitter Charcot-Marie-Tooth disease type 1
- c.*985C>T Single submitter Charcot-Marie-Tooth disease type 1
- p.80LF[1] Single submitter Charcot-Marie-Tooth disease
- p.Ala106Asp Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Ala106Ser Single submitter ⚠
- p.Ala106Thr Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Ala113Pro Single submitter ⚠
- p.Ala115Asp Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Ala35Gly Single submitter ⚠
- p.Arg157Gln Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Arg159Pro Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Asn127Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Asp129Tyr Single submitter ⚠
- p.Asp37Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Asp37His Single submitter ⚠
- p.Cys42Phe Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Cys53Tyr Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Gln63Arg Single submitter ⚠
- p.Gly107Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Gly133Ala Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Gly133Asp Single submitter ⚠
- p.Gly150Ser Single submitter Inborn genetic diseases ⚠
- p.Gly33Glu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Gly93Trp Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.His121Arg Single submitter Charcot-Marie-Tooth disease type 1A ⚠
- p.His125Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.His12Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.His34Gln Single submitter Charcot-Marie-Tooth disease type 1A ⚠
- p.Ile101Val Single submitter ⚠
- p.Ile152Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Ile73Asn Single submitter ⚠
- p.Ile77Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Ile8Asn Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Ile98Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Ile9Asn Single submitter ⚠
- p.Ile9Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Leu105Pro Single submitter Charcot-Marie-Tooth disease type 1A ⚠
- p.Leu11_Val13del Single submitter
- p.Leu11Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Leu126Val Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Leu156Ser Single submitter Charcot-Marie-Tooth disease ⚠
- p.Leu156Ter Single submitter Charcot-Marie-Tooth disease type 1
- p.Leu19_Phe20insLeu Single submitter
- p.Leu19Arg Single submitter ⚠
- p.Leu19del Single submitter Charcot-Marie-Tooth disease type 1
- p.Leu38Pro Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Leu5Phe Single submitter ⚠
- p.Leu80Val Single submitter Inborn genetic diseases ⚠
- p.Met1Ile Single submitter
- p.Phe20Leu Single submitter Inborn genetic diseases ⚠
- p.Phe81Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Phe88= Single submitter
- p.Pro58Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Ser112Arg Single submitter PMP22-related disorder ⚠
- p.Ser131Phe Single submitter ⚠
- p.Ser131Tyr Single submitter ⚠
- p.Ser22Pro Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Ser45Phe Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Ter161Arg Single submitter Charcot-Marie-Tooth disease type 1
- p.Thr36Ala Single submitter Inborn genetic diseases ⚠
- p.Thr44Ser Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Thr89Asn Single submitter Charcot-Marie-Tooth disease type 1
- p.Thr99Ile Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Trp124Arg Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Trp140_Ala146del Single submitter Charcot-Marie-Tooth disease type 3
- p.Trp28Leu Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Trp28Ser Single submitter Charcot-Marie-Tooth disease type 1E ⚠
- p.Tyr117Cys Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Tyr132Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr136Asn Single submitter ⚠
- p.Tyr136Cys Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Tyr97Cys Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Val110Met Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Val13Ala Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- p.Val141Gly Single submitter Roussy-Levy syndrome ⚠
- p.Val141Met Single submitter Charcot-Marie-Tooth disease type 1 ⚠
- c.174_178+7del No assertion criteria Charcot-Marie-Tooth disease
- c.178+1G>C No assertion criteria Charcot-Marie-Tooth disease
- c.179-1G>A No assertion criteria Charcot-Marie-Tooth disease
- c.179-1G>C No assertion criteria Charcot-Marie-Tooth disease
- c.319+14G>T No assertion criteria Charcot-Marie-Tooth disease type 1
- c.319+16T>G No assertion criteria Charcot-Marie-Tooth disease
- c.320-1G>C No assertion criteria Charcot-Marie-Tooth disease
- c.75_78+2del No assertion criteria Charcot-Marie-Tooth disease
- c.78+1G>T No assertion criteria Charcot-Marie-Tooth disease
- c.78+5G>A No assertion criteria Charcot-Marie-Tooth disease
- c.-40G>A No assertion criteria
- c.*83del No assertion criteria Charcot-Marie-Tooth disease
- p.Ala106fs No assertion criteria Charcot-Marie-Tooth disease
- p.Arg157Gly No assertion criteria Charcot-Marie-Tooth disease ⚠
- p.Cys109Arg No assertion criteria Charcot-Marie-Tooth disease ⚠
- p.Gln66Pro No assertion criteria hereditary neuropathy with liability to pressure palsies ⚠
- p.Glu123fs No assertion criteria Charcot-Marie-Tooth disease
- p.Gly100fs No assertion criteria Charcot-Marie-Tooth disease
- p.Gly100Glu No assertion criteria Charcot-Marie-Tooth disease type 3 ⚠
- p.Ile116fs No assertion criteria Charcot-Marie-Tooth disease
- p.Leu105Arg No assertion criteria Charcot-Marie-Tooth disease ⚠
- p.Leu147Arg No assertion criteria Charcot-Marie-Tooth disease ⚠
- p.Leu148fs No assertion criteria Charcot-Marie-Tooth disease
- p.Leu156= No assertion criteria
- p.Leu18Arg No assertion criteria Charcot-Marie-Tooth disease ⚠
- p.Leu19Pro No assertion criteria Charcot-Marie-Tooth disease type 3 ⚠
- p.Leu4fs No assertion criteria Charcot-Marie-Tooth disease
- p.Leu71Pro No assertion criteria Charcot-Marie-Tooth disease type 3 ⚠
- p.Leu80Arg No assertion criteria Charcot-Marie-Tooth disease type 3 ⚠
- p.Leu80Pro No assertion criteria Charcot-Marie-Tooth disease type 3 ⚠
- p.Pro122fs No assertion criteria Charcot-Marie-Tooth disease
- p.Ser76Ile No assertion criteria Charcot-Marie-Tooth disease type 3 ⚠
- p.Thr44fs No assertion criteria Charcot-Marie-Tooth disease
- p.Trp124Ter No assertion criteria hereditary neuropathy with liability to pressure palsies
- p.Trp39Cys No assertion criteria Charcot-Marie-Tooth disease ⚠
- p.Tyr97fs No assertion criteria Charcot-Marie-Tooth disease
- p.Val65Phe No assertion criteria Charcot-Marie-Tooth disease ⚠