Sugi Variant

Sugi Variant/MFN2

MFN2 — 1362 ClinVar variants

All ClinVar germline MFN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 625 flagged for review →

83 Pathogenic · 36 Pathogenic/Likely pathogenic · 76 Likely pathogenic · 86 Conflicting · 62 Benign · 34 Benign/Likely benign · 336 Likely benign · 649 Uncertain significance

Full MFN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 625

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 10

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

Predictors agree, ClinVar conflicts 36

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

Predictors lean, ClinVar uncertain 329

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 329

Predictors split 250

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 250

All MFN2 variants

Pathogenic 83

  • c.475-1G>C Multiple submitters MFN2-related disorder
  • p.Arg104Trp Multiple submitters neuropathy, hereditary motor and sensory, type 6A
  • p.Arg364Pro Multiple submitters Charcot-Marie-Tooth disease type 2A2
  • p.Arg364Trp Multiple submitters MFN2-related disorder
  • p.Arg400Ter Multiple submitters neuropathy, hereditary motor and sensory, type 6A
  • p.Arg94Gln Multiple submitters neuropathy, hereditary motor and sensory, type 6A ⚠
  • p.Arg94Trp Multiple submitters neuropathy, hereditary motor and sensory, type 6A
  • p.Gln591fs Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gln751Ter Multiple submitters Charcot-Marie-Tooth disease type 2A2
  • p.Glu308Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu597Ter Multiple submitters Inborn genetic diseases
  • p.His165Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
  • p.His165Tyr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
  • p.Leu225fs Multiple submitters Inborn genetic diseases
  • p.Leu741Trp Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu76Pro Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu92Pro Multiple submitters neuropathy, hereditary motor and sensory, type 6A
  • p.Thr206Ile Multiple submitters MFN2-related disorder
  • p.Tyr752Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Val244Met Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1717-30_1771del Single submitter Charcot-Marie-Tooth disease type 2
  • c.2054_2069+1171del Single submitter Charcot-Marie-Tooth disease type 2
  • c.312-16_314del Single submitter Charcot-Marie-Tooth disease type 2
  • c.475-2A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.475-7_478del Single submitter Charcot-Marie-Tooth disease type 2
  • c.600-31T>G Single submitter Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
  • c.600-?_816+?del Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala716_Met717insTer Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg250fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg274_Arg275del Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg373Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg95del Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg95Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Asp210Tyr Single submitter
  • p.Asp536fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Cys217Phe Single submitter Charcot-Marie-Tooth disease type 2
  • p.Cys530_Asp531delinsTer Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln169Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln235His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Gln235Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln276His Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln386Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln538fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln538Ter Single submitter Inborn genetic diseases
  • p.Gln591Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln728Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu346Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu72fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly606fs Single submitter Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
  • p.His128Asn Single submitter Charcot-Marie-Tooth disease type 2
  • p.His165Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.His361Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.His361Tyr Single submitter Charcot-Marie-Tooth disease type 2
  • p.His698fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.His750fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ile513fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ile88Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Leu610fs Single submitter Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
  • p.Leu82fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys187Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys357Glu Single submitter severe early-onset axonal neuropathy due to MFN2 deficiency
  • p.Lys357Thr Single submitter Charcot-Marie-Tooth disease type 2
  • p.Phe240Val Single submitter Charcot-Marie-Tooth disease type 2
  • p.Phe748fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Pro251Ala Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Pro251Leu Single submitter Charcot-Marie-Tooth disease type 2
  • p.Pro251Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ser106Arg Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ser186fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ser431Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Thr105Ala Single submitter Charcot-Marie-Tooth disease type 2
  • p.Thr356Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Trp260Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Trp631Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Trp740Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Tyr679Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Val121fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Val244Leu Single submitter Charcot-Marie-Tooth disease type 2A2 ⚠
  • p.Val620fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Val91fs Single submitter Charcot-Marie-Tooth disease type 2
  • c.1392+1G>A No assertion criteria Charcot-Marie-Tooth disease
  • c.600_816del No assertion criteria LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH AXONAL PERIPHERAL NEUROPATHY
  • p.Val69Phe No assertion criteria Charcot-Marie-Tooth disease type 2A2 ⚠

Pathogenic/Likely pathogenic 36

  • p.Ala166Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala220Thr Multiple submitters Charcot-Marie-Tooth disease type 2A2
  • p.Ala383Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ala738Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg259Cys Multiple submitters MFN2-related disorder
  • p.Arg259Leu Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg280His Multiple submitters neuropathy, hereditary motor and sensory, type 6A
  • p.Arg294Ter Multiple submitters Charcot-Marie-Tooth disease type 2A2
  • p.Arg364Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg418Ter Multiple submitters hereditary motor and sensory neuropathy type 6
  • p.Arg707Trp Multiple submitters neuropathy, hereditary motor and sensory, type 6A
  • p.Arg94Gly Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg95Gly Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
  • p.Asp210Gly Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gln360Glu Multiple submitters MFN2-related disorder ⚠
  • p.Gln367Pro Multiple submitters MFN2-related disorder
  • p.His128Tyr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
  • p.His361Arg Multiple submitters
  • p.Ile213Thr Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ile88Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
  • p.Leu146Phe Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
  • p.Leu710Pro Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu724Pro Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Lys109Arg Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Lys357Asn Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Met376Arg Multiple submitters MFN2-related disorder
  • p.Met376Val Multiple submitters MFN2-related disorder ⚠
  • p.Phe216Ser Multiple submitters MFN2-related disorder
  • p.Ser231Phe Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ser249Phe Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
  • p.Thr105Met Multiple submitters MFN2-related disorder
  • p.Thr362Met Multiple submitters MFN2-related disorder
  • p.Trp740Ser Multiple submitters MFN2-related disorder ⚠
  • p.Val112Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val136fs Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Val273Gly Multiple submitters Charcot-Marie-Tooth disease type 2

Likely pathogenic 76

  • c.1160+1G>A Multiple submitters Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
  • p.Arg104Gln Multiple submitters Charcot-Marie-Tooth disease
  • p.Arg280Cys Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg280Pro Multiple submitters Charcot-Marie-Tooth disease type 2A2
  • p.Arg476Gly Multiple submitters Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
  • p.Gln276dup Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.His361Gln Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ile213Asn Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu248Val Multiple submitters Charcot-Marie-Tooth disease type 2A2 ⚠
  • p.Ser249Cys Multiple submitters Charcot-Marie-Tooth disease type 2A2 ⚠
  • p.Thr206Ala Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
  • c.1161-2A>G Single submitter MFN2-related disorder
  • c.1287+1G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1496-2A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.175+1G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.708+1G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.970+1G>T Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala220Val Single submitter ⚠
  • p.Ala382Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg247Pro Single submitter MFN2-related disorder
  • p.Arg259Ser Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg476Ter Single submitter
  • p.Arg649Pro Single submitter Charcot-Marie-Tooth disease type 2A2
  • p.Arg663fs Single submitter MFN2-related disorder
  • p.Arg707Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg94Leu Single submitter Charcot-Marie-Tooth disease type 2A2 ⚠
  • p.Asn252Asp Single submitter auditory neuropathy
  • p.Asp219Gly Single submitter Charcot-Marie-Tooth disease type 2
  • p.Cys132Phe Single submitter Charcot-Marie-Tooth disease type 2
  • p.Cys132Tyr Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln45Arg Single submitter Charcot-Marie-Tooth disease type 2A2 ⚠
  • p.Gln574fs Single submitter MFN2-related disorder
  • p.Glu230Lys Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu237Asp Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu370fs Single submitter
  • p.Glu744Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Gly127Arg Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly150Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Gly202Ala Single submitter Charcot-Marie-Tooth disease
  • p.His128Arg Single submitter Charcot-Marie-Tooth disease
  • p.His165Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.His165Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.His242Tyr Single submitter Charcot-Marie-Tooth disease type 2A2 ⚠
  • p.His277Arg Single submitter Charcot-Marie-Tooth disease
  • p.His277fs Single submitter Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
  • p.Ile255Thr Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ile470fs Single submitter
  • p.Ile88Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Leu134Gln Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu724Ile Single submitter Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; ⚠
  • p.Leu724Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Met234Ile Single submitter Charcot-Marie-Tooth disease type 2A2
  • p.Met234Lys Single submitter Charcot-Marie-Tooth disease type 2A2
  • p.Phe223Leu Single submitter Charcot-Marie-Tooth disease type 2
  • p.Phe240Leu Single submitter Charcot-Marie-Tooth disease type 2
  • p.Phe403fs Single submitter MFN2-related disorder
  • p.Phe452fs Single submitter Charcot-Marie-Tooth disease type 2A2
  • p.Pro251Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ser106Asn Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ser231Pro Single submitter Charcot-Marie-Tooth disease type 2A2
  • p.Ser231Thr Single submitter
  • p.Ser726Ter Single submitter
  • p.Thr130Asn Single submitter Charcot-Marie-Tooth disease type 2A2
  • p.Thr232Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Thr232Ser Single submitter Charcot-Marie-Tooth disease type 2A2
  • p.Thr580fs Single submitter multiple symmetric lipomatosis
  • p.Thr614fs Single submitter hereditary motor and sensory neuropathy type 6
  • p.Trp740Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Trp740Ter Single submitter cerebral palsy
  • p.Val160Gly Single submitter Charcot-Marie-Tooth disease type 2A2 ⚠
  • p.Val222Leu Single submitter Tip-toe gait
  • p.Val244Gly Single submitter Charcot-Marie-Tooth disease type 2
  • p.Val33fs Single submitter MFN2-related disorder
  • p.Val99Ala Single submitter MFN2-related disorder ⚠
  • p.Asp204His No assertion criteria Charcot-Marie-Tooth disease type 2A2
  • p.Glu52Lys No assertion criteria Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; ⚠

Conflicting classifications of pathogenicity 86

  • c.1039-12TG[2] Single submitter Charcot-Marie-Tooth disease type 2
  • c.1716+8A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.175+6G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.175+9G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1873-16A>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2204+13C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.474+4A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.475-5A>G Single submitter Inborn genetic diseases
  • c.708+5CTC[2] Single submitter Charcot-Marie-Tooth disease type 2
  • c.816+4C>T Single submitter Inborn genetic diseases
  • p.Ala100Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ala262Val Single submitter Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; ⚠
  • p.Ala382Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ala54Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala715= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala716Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ala716Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala738Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg104Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg135Gln Single submitter Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; ⚠
  • p.Arg250Gln Single submitter Mitochondrial DNA maintenance disorder ⚠
  • p.Arg250Trp Single submitter Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; ⚠
  • p.Arg259His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg274Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg274Trp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg300Cys Single submitter hereditary motor and sensory neuropathy type 6 ⚠
  • p.Arg364Leu Single submitter Charcot-Marie-Tooth disease type 2A2 ⚠
  • p.Arg400Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg468His Single submitter Inborn genetic diseases ⚠
  • p.Arg510Gln Single submitter hereditary ataxia ⚠
  • p.Arg632Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg632Trp Single submitter MFN2-related disorder ⚠
  • p.Arg663Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg663His Single submitter neuropathy, hereditary motor and sensory, type 6A ⚠
  • p.Arg707Gln Single submitter Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; ⚠
  • p.Arg7Ter Single submitter Charcot-Marie-Tooth disease type 2A2
  • p.Asn131Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Asn252= Single submitter Inborn genetic diseases
  • p.Asn525Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp199Glu Single submitter Charcot-Marie-Tooth disease type 2A2 ⚠
  • p.Cys281Ser Single submitter optic atrophy ⚠
  • p.Gln276Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln367His Single submitter Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; ⚠
  • p.Gln74Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Gln754fs Single submitter Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
  • p.Glu230Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Glu744Gly Single submitter MFN2-related disorder ⚠
  • p.Glu744Lys Single submitter Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; ⚠
  • p.Gly176Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Gly80Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.His20Tyr Single submitter optic atrophy ⚠
  • p.His242Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ile255Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ile88Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Leu218Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Leu379Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Leu619= Single submitter Inborn genetic diseases
  • p.Leu640= Single submitter Charcot-Marie-Tooth disease
  • p.Leu741Val Single submitter Charcot-Marie-Tooth disease type 2A2 ⚠
  • p.Lys120Glu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Lys307Glu Single submitter Charcot-Marie-Tooth disease type 2A2 ⚠
  • p.Lys38del Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys719= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys98Glu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Met234Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Met270Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Met376Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ser156Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ser231Cys Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Ser378Pro Single submitter Charcot-Marie-Tooth disease type 2A2 ⚠
  • p.Thr236Met Single submitter Autosomal dominant and autosomal recessive MFN2-related disorders ⚠
  • p.Thr362Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Thr362Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Thr423= Single submitter hereditary motor and sensory neuropathy type 6
  • p.Thr484Met Single submitter Inborn genetic diseases ⚠
  • p.Thr60Met Single submitter hereditary motor and sensory neuropathy type 6 ⚠
  • p.Tyr49Asp Single submitter Inborn genetic diseases ⚠
  • p.Tyr61= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Val181Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Val226_Ser229del Single submitter Charcot-Marie-Tooth disease type 2
  • p.Val676Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Val69Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Val91Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • c.1392+2T>C No assertion criteria Charcot-Marie-Tooth disease
  • p.Gly108Arg No assertion criteria Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; ⚠
  • p.Val91Gly No assertion criteria Charcot-Marie-Tooth disease ⚠

Benign 62

Benign/Likely benign 34

  • c.1495+10del Multiple submitters Charcot-Marie-Tooth disease
  • c.1495+9C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.175+14G>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.176-7C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.2069+18A>G Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.2070-11C>G Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.-149-15T>G Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.-161G>A Multiple submitters hereditary motor and sensory neuropathy type 6
  • c.-249T>A Multiple submitters hereditary motor and sensory neuropathy type 6
  • c.-287C>T Multiple submitters hereditary motor and sensory neuropathy type 6
  • c.-4-13G>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.*15G>A Multiple submitters Charcot-Marie-Tooth disease
  • p.Ala656= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asp221= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Cys188= Multiple submitters Inborn genetic diseases
  • p.Gly298Arg Multiple submitters neuropathy, hereditary motor and sensory, type 6A
  • p.Gly319= Multiple submitters Charcot-Marie-Tooth disease
  • p.His174= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ile50= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu650= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Met393Ile Multiple submitters Inborn genetic diseases
  • p.Pro267= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Pro576= Multiple submitters Inborn genetic diseases
  • p.Ser53= Multiple submitters Charcot-Marie-Tooth disease
  • p.Ser602= Multiple submitters Inborn genetic diseases
  • p.Ser609= Multiple submitters Charcot-Marie-Tooth disease
  • p.Thr484= Multiple submitters Inborn genetic diseases
  • p.Thr55= Multiple submitters Charcot-Marie-Tooth disease type 2A2
  • p.Val136= Multiple submitters Charcot-Marie-Tooth disease type 2A2
  • p.Val181= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Val24= Multiple submitters Inborn genetic diseases
  • p.Val705Ile Multiple submitters neuropathy, hereditary motor and sensory, type 6A
  • c.*1706T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.*26G>A Single submitter Charcot-Marie-Tooth disease type 2

Likely benign 336

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

  • c.1039-15C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1039-19G>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1039-20C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1039-41C>G Multiple submitters
  • c.1287+13G>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1288-10T>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1393-14T>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1393-4G>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1495+8C>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1496-18C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1496-34T>C Multiple submitters
  • c.1717-12T>G Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1717-15T>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1717-9_1717-6del Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.175+13C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1872+20C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1873-4G>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.2069+13G>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.2069+15C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.2069+16G>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.2069+20C>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.2069+30G>C Multiple submitters
  • c.2069+9C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.2070-11C>T Multiple submitters Charcot-Marie-Tooth disease
  • c.2070-8C>T Multiple submitters Charcot-Marie-Tooth disease
  • c.2204+10G>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.2204+14G>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.311+7C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.311+8C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.311+9T>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.312-19A>G Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.474+86A>C Multiple submitters
  • c.600-116G>A Multiple submitters
  • c.708+10C>T Multiple submitters Charcot-Marie-Tooth disease
  • c.971-16A>G Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala175= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala26= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala382= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala608= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala738= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg440= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asn311= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asn488Ser Multiple submitters Inborn genetic diseases
  • p.Asp194= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asp446= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asp447= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asp67= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asp704= Multiple submitters Inborn genetic diseases
  • p.Asp77= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu471= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu539= Multiple submitters Inborn genetic diseases
  • p.Gly290= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gly606= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gly739= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ile11= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ile88= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu195= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu57= Multiple submitters Inborn genetic diseases
  • p.Leu710= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Lys109= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Lys215= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Lys657= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Lys720= Multiple submitters Inborn genetic diseases
  • p.Phe133= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Phe241= Multiple submitters Charcot-Marie-Tooth disease
  • p.Pro68= Multiple submitters Inborn genetic diseases
  • p.Ser593= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ser670= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Thr148= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Thr232= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Thr492= Multiple submitters Inborn genetic diseases
  • p.Thr605= Multiple submitters Charcot-Marie-Tooth disease
  • p.Tyr49= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Tyr645= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Val222= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Val292= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Val309= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Val625= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Val676= Multiple submitters Charcot-Marie-Tooth disease
  • c.1038+16C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1038+17_1038+20dup Single submitter Charcot-Marie-Tooth disease type 2
  • c.1038+7C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1039-11G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1039-13C>T Single submitter
  • c.1039-16C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1039-4C>T Single submitter
  • c.1039-9G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1160+10C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1160+16T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1160+19A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1161-16A>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1161-17C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1161-18C>A Single submitter
  • c.1161-18C>T Single submitter
  • c.1161-197C>T Single submitter
  • c.1161-234C>T Single submitter
  • c.1161-45_1161-14del Single submitter Charcot-Marie-Tooth disease type 2
  • c.1161-7C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1287+10GAG[2] Single submitter Charcot-Marie-Tooth disease type 2
  • c.1287+19G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1288-15T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1288-16C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1288-4G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1288-5T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1392+12A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1392+20G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1392+7C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1393-12_1393-11insA Single submitter Charcot-Marie-Tooth disease type 2
  • c.1393-7G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1495+13G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1495+15_1495+16del Single submitter Charcot-Marie-Tooth disease type 2
  • c.1495+236C>A Single submitter
  • c.1495+310C>T Single submitter
  • c.1496-8C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1717-10C>T Single submitter
  • c.1717-17C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1717-19C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1717-5C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1717-8C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.175+12C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.175+16C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.175+8G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.176-15A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.176-16C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.176-19T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.176-200G>T Single submitter
  • c.176-4C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.176-4C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.176-8A>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.176-8A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1872+17G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1873-13A>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1873-14C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1873-19C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2069+10C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2069+15C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2069+17G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.2070-14T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.2070-16T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.2070-16TC[5] Single submitter Charcot-Marie-Tooth disease type 2
  • c.2070-20C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2070-4C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2070-4C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2070-6C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.2070-7_2070-5del Single submitter Charcot-Marie-Tooth disease type 2
  • c.2070-8C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2204+118A>G Single submitter
  • c.2204+12C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2204+16G>A Single submitter
  • c.2204+19G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.2204+20C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.2205-15A>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.2205-15dup Single submitter Charcot-Marie-Tooth disease type 2
  • c.2205-4G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.311+14_311+15delinsTT Single submitter Charcot-Marie-Tooth disease type 2
  • c.311+288_311+289dup Single submitter
  • c.311+315A>G Single submitter
  • c.311+7C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.312-10T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.312-11C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.312-14T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.312-18G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.474+18G>C Single submitter
  • c.474+88G>C Single submitter
  • c.475-12C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.475-17C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.475-17C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.475-232T>G Single submitter
  • c.475-240dup Single submitter
  • c.475-259C>A Single submitter
  • c.475-33C>T Single submitter
  • c.475-38T>C Single submitter
  • c.475-4T>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.599+109A>G Single submitter
  • c.599+19C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.599+9G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.600-11G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.600-13_600-12del Single submitter Charcot-Marie-Tooth disease type 2
  • c.600-14C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.600-7C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.600-8_600-7dup Single submitter Charcot-Marie-Tooth disease type 2
  • c.708+17C>T Single submitter
  • c.708+9del Single submitter Charcot-Marie-Tooth disease type 2
  • c.709-19G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.709-9T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.816+13G>C Single submitter
  • c.816+16T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.816+18G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.816+9T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.817-108G>A Single submitter
  • c.817-14T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.817-18C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.817-19A>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.817-19A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.817-7G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.970+8T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.970+9G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.971-14T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.971-4C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.971-5C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.971-8C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.-10A>G Single submitter
  • c.-149-20C>A Single submitter
  • c.-149-46_-149-45insGTTTTTTTTT Single submitter
  • c.-4-221C>A Single submitter
  • p.Ala22= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala264= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala297= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala371= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala412= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala435= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala485= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala535= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala628= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala660= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala93= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg155Lys Single submitter
  • p.Arg250= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg274= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg334= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg343= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg364= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg394= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg397= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg468= Single submitter
  • p.Arg663= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg757= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg95= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asn131= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asn17Asp Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asn185= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asn40= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asn488= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asn63= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asp119= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asp170= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asp199= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asp287= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asp293= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asp405= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asp496= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Cys348= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Cys390= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Cys684= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln315= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln339= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln386= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln398= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln751= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu153= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu288= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu329= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu392= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu667= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu691= Single submitter
  • p.Glu744= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly141= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly325= Single submitter
  • p.Gly330= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly622= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly630= Single submitter Charcot-Marie-Tooth disease type 2
  • p.His168= Single submitter Charcot-Marie-Tooth disease type 2
  • p.His380= Single submitter Charcot-Marie-Tooth disease type 2
  • p.His686= Single submitter Charcot-Marie-Tooth disease type 2
  • p.His96= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ile349= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ile39= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ile577= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ile677= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu117= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu122= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu225= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu256= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu310= Single submitter
  • p.Leu327= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu379= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu401= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu417= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu444= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu490= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu504= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu528= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu594= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu607= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu610= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu636= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu644= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu734= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu753= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu82= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys120= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys154= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys18= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys460= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys662= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys672= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Phe284= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Phe452= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Phe56= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Pro123= Single submitter Charcot-Marie-Tooth disease type 2

Uncertain significance 649

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