Sugi Variant

Sugi Variant/HSPB1

HSPB1 — 391 ClinVar variants

All ClinVar germline HSPB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 176 flagged for review →

10 Pathogenic · 13 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 29 Conflicting · 8 Benign · 13 Benign/Likely benign · 94 Likely benign · 215 Uncertain significance

Full HSPB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 176

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 5

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

Predictors agree, ClinVar conflicts 8

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

Predictors lean, ClinVar uncertain 105

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

Predictors split 58

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

All HSPB1 variants

Pathogenic 10

  • p.Arg127Trp Multiple submitters Inborn genetic diseases
  • p.Arg140Gly Multiple submitters HSPB1-related axonal neuropathies
  • p.Pro182Ala Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Ser135Phe Multiple submitters HSPB1-related disorder
  • p.Ser135Tyr Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Arg136Trp Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro182Leu Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ser158fs Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ser83fs Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Leu99Met No assertion criteria neuronopathy, distal hereditary motor, type 2B ⚠

Pathogenic/Likely pathogenic 13

  • p.Arg127Leu Multiple submitters HSPB1-related disorder
  • p.Arg136Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Arg136Leu Multiple submitters Inborn genetic diseases
  • p.Gln175Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Gly84Arg Multiple submitters distal hereditary motor neuropathy
  • p.Lys171fs Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro159fs Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro182Ser Multiple submitters neuronopathy, distal hereditary motor, type 2B
  • p.Pro39Leu Multiple submitters HSPB1-related axonal neuropathies ⚠
  • p.Ser135Cys Multiple submitters neuronopathy, distal hereditary motor, type 2B
  • p.Thr139Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Thr151Ile Multiple submitters HSPB1-related disorder ⚠
  • p.Thr180Ile Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠

Likely pathogenic 9

  • p.Arg27fs Single submitter neuronopathy, distal hereditary motor, type 2B
  • p.Arg37fs Single submitter neuronopathy, distal hereditary motor, type 2B
  • p.Arg96fs Single submitter
  • p.Glu178Ter Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Met169fs Single submitter
  • p.Pro39Arg Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ser135Ala Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ala204fs No assertion criteria Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro145Ser No assertion criteria

Conflicting classifications of pathogenicity 29

  • c.364+6C>G Single submitter Inborn genetic diseases
  • c.364+6C>T Single submitter Inborn genetic diseases
  • c.365-5C>A Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.365-6C>G Single submitter Charcot-Marie-Tooth disease
  • c.-122G>T Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.-15G>A Single submitter Inborn genetic diseases
  • c.-4C>T Single submitter Charcot-Marie-Tooth disease
  • p.Ala204Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala70= Single submitter neuronopathy, distal hereditary motor, type 2B
  • p.Ala72= Single submitter Inborn genetic diseases
  • p.Arg27Pro Single submitter Inborn genetic diseases ⚠
  • p.Asp107Glu Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Asp93Asn Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Gln128Arg Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Gln190His Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Gly147fs Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Gly53Asp Single submitter neuronopathy, distal hereditary motor, type 2B ⚠
  • p.Gly84Trp Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.His124Gln Single submitter Inborn genetic diseases ⚠
  • p.Leu58fs Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Met1Ile Single submitter Inborn genetic diseases
  • p.Pro146= Single submitter
  • p.Pro7Arg Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro7Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ser187Leu Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Thr139= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Thr139Ala Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Val6Ile Single submitter Inborn genetic diseases ⚠
  • p.Val85= Single submitter Inborn genetic diseases

Benign 8

  • c.364+82C>A Multiple submitters
  • c.429-59G>A Multiple submitters
  • c.-46C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • c.*11C>T Multiple submitters Charcot-Marie-Tooth disease
  • p.Tyr133= Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • c.364+11dup Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.365-7C>T Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.+11C>T Single submitter

Benign/Likely benign 13

  • c.365-5dup Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • c.-19C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • c.-56C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • c.*22C>T Multiple submitters neuronopathy, distal hereditary motor, type 2B
  • p.Ala167= Multiple submitters Inborn genetic diseases
  • p.Ala189= Multiple submitters Inborn genetic diseases
  • p.Arg12= Multiple submitters Inborn genetic diseases
  • p.Gln80= Multiple submitters Inborn genetic diseases
  • p.Glu3= Multiple submitters Inborn genetic diseases
  • p.Leu191= Multiple submitters Inborn genetic diseases
  • p.Phe8= Multiple submitters Inborn genetic diseases
  • p.Pro60Ser Multiple submitters Charcot-Marie-Tooth disease
  • p.Pro36= Single submitter neuronopathy, distal hereditary motor, type 2B

Likely benign 94

  • c.364+34A>C Multiple submitters
  • c.365-257C>T Multiple submitters
  • c.365-5C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • c.365-60C>T Multiple submitters
  • c.365-7C>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • c.428+13G>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Glu166= Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Gly13= Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Ile63= Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Leu28= Multiple submitters Inborn genetic diseases
  • p.Leu81= Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Phe33= Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro39= Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro66= Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Val68= Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • c.364+10C>A Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.364+10C>G Single submitter
  • c.364+11C>G Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.364+13G>A Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.364+13G>C Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.364+317dup Single submitter
  • c.364+7C>T Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.364+9_364+20del Single submitter Charcot-Marie-Tooth disease
  • c.365-10C>A Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.365-10C>T Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.365-15C>G Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.365-16C>T Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.365-189A>G Single submitter
  • c.365-258G>C Single submitter
  • c.365-4A>G Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.365-5del Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.365-6C>A Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.365-96C>G Single submitter
  • c.365-9C>A Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.428+20C>T Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.428+44T>G Single submitter
  • c.428+9T>C Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.429-16CT[2] Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.429-4C>T Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.429-7C>T Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.-5C>T Single submitter Charcot-Marie-Tooth disease
  • c.*20A>C Single submitter Charcot-Marie-Tooth disease
  • c.*86C>A Single submitter
  • p.Ala203= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ala204= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ala61= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Arg136= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Arg188Gln Single submitter Inborn genetic diseases
  • p.Arg37Pro Single submitter Charcot-Marie-Tooth disease
  • p.Arg56= Single submitter
  • p.Arg75= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Asn177= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Cys137= Single submitter
  • p.Gln128= Single submitter
  • p.Glu130= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Glu40= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Glu41= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Gly48= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Gly53= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.His124= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.His25= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ile179= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Leu109= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Leu11= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Leu144= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Leu157= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Leu46= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Leu58= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Phe185= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro106= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro145= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro159= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro168= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro57= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro59= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro60= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro7= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ser15= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ser158= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ser26= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ser43= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ser9= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ser98= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Thr110= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Thr113= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Thr164= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Thr174= Single submitter
  • p.Thr184= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Thr2= Single submitter
  • p.Tyr54= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Val111= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Val117= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Val153= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Val6= Single submitter Charcot-Marie-Tooth disease axonal type 2F

Uncertain significance 215

  • p.Ala173Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ala32Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg127Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Arg20Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Arg27His Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Arg27Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Arg4His Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Arg79Pro Multiple submitters neuronopathy, distal hereditary motor, type 2B ⚠
  • p.Arg89Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg94Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Asn102Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Asn102Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Asp200Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Asp200Val Multiple submitters Inborn genetic diseases ⚠
  • p.Glu108Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Glu119del Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Glu201Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu3Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Gly122Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Gly48Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ile134Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ile88Met Multiple submitters Inborn genetic diseases
  • p.Leu10His Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Leu38Met Multiple submitters Inborn genetic diseases ⚠
  • p.Leu77Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Lys114Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Lys123Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro170Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro182Gln Multiple submitters ⚠
  • p.Pro36Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro59Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro60Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro7Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ser154Ala Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ser158Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Ser15Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser187fs Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Ser43Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Ser50Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Ser83Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Ser86Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Thr151Pro Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Trp16Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2F
  • p.Tyr142Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Val117Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Val6Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val6Phe Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Val85Phe Multiple submitters Charcot-Marie-Tooth disease axonal type 2F ⚠
  • c.364+1G>A Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.364+5del Single submitter Inborn genetic diseases
  • c.364+9_364+26del Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.365-11_365-9delinsATA Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.365-14_365-7del Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.365-3A>G Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.365-5_365-4del Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.428+5G>C Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.429-3C>T Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.429-7C>G Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.-129G>T Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • c.*116C>T Single submitter neuronopathy, distal hereditary motor, type 2B
  • p.Ala105Asp Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ala189Thr Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ala196Val Single submitter ⚠
  • p.Ala204del Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ala204Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ala32_Phe33insTer Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ala32Asp Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ala32Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ala61fs Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ala62dup Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ala62Pro Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ala62Thr Single submitter ⚠
  • p.Ala67Thr Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ala70Thr Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ala72Val Single submitter Inborn genetic diseases ⚠
  • p.Ala76Pro Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ala92Glu Single submitter ⚠
  • p.Ala92Val Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Arg127= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Arg20= Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Arg37Trp Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Arg56His Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Arg75Cys Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Arg79Gln Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Arg94His Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Arg96Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Asn177Ile Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Asn177Tyr Single submitter ⚠
  • p.Asp100Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp100Asn Single submitter ⚠
  • p.Asp129Asn Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Asp200Glu Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Asp21Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp30Ala Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Cys137Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln152His Single submitter Inborn genetic diseases ⚠
  • p.Gln31Glu Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Gln31Lys Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Gln31Ter Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Gln44Arg Single submitter ⚠
  • p.Gln80His Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Glu119Val Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Glu125Lys Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Glu126del Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Glu130Asp Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Glu130Lys Single submitter ⚠
  • p.Glu160Gln Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Glu166Asp Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Glu166Gln Single submitter ⚠
  • p.Glu178Lys Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Glu186Gln Single submitter ⚠
  • p.Glu3Gly Single submitter ⚠
  • p.Glu3Lys Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Glu40Ter Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Glu40Val Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Glu41Lys Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Glu64Asp Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Glu64Gln Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Glu64Lys Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Gly116Asp Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Gly122Asp Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Gly132Asp Single submitter ⚠
  • p.Gly132Ser Single submitter ⚠
  • p.Gly132Val Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Gly13Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Gly192Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly192Arg Single submitter ⚠
  • p.Gly192Trp Single submitter
  • p.Gly193Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly193del Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Gly47Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Gly53Arg Single submitter ⚠
  • p.Gly84Glu Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.His131Arg Single submitter ⚠
  • p.His25Gln Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ile134Thr Single submitter neuronopathy, distal hereditary motor, type 2B ⚠
  • p.Ile179fs Single submitter
  • p.Ile179Thr Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ile179Val Single submitter Inborn genetic diseases ⚠
  • p.Ile63Phe Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Leu163Met Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Leu191Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu191fs Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Leu46Val Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Lys123Met Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Lys123Thr Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Lys141Gln Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Lys205= Single submitter neuronopathy, distal hereditary motor, type 2B
  • p.Lys205Asn Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Met169Ile Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Met1Leu Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Met1Thr Single submitter Inborn genetic diseases
  • p.Phe185Leu Single submitter ⚠
  • p.Phe185Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro146Arg Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro146His Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro14Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro150His Single submitter
  • p.Pro159Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Pro168Leu Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro168Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro170Leu Single submitter ⚠
  • p.Pro182Thr Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro18Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro18Thr Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro24Thr Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro52Arg Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro57Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro59Thr Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro66Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Pro7Ala Single submitter ⚠
  • p.Ser154Tyr Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ser156del Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ser156Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser158Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser15Arg Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ser176Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser26Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser26Asn Single submitter Inborn genetic diseases
  • p.Ser43_Trp45dup Single submitter
  • p.Ser43Leu Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ser43Pro Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ser78Ile Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Ser83Cys Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ser83Thr Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Ser98Cys Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Thr110Met Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Thr113Ala Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Thr121Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Thr143Lys Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Thr143Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Thr164Ile Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Thr180Pro Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Thr180Ser Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Thr184Ile Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Thr91Ser Single submitter ⚠
  • p.Trp16Leu Single submitter Inborn genetic diseases ⚠
  • p.Trp22_Tyr23insAspProPheArgAspTrp Single submitter HSPB1-related disorder
  • p.Trp22Cys Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Trp42fs Single submitter Inborn genetic diseases
  • p.Trp42Ter Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Trp45Ter Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Trp51Ter Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Tyr133Cys Single submitter Charcot-Marie-Tooth disease axonal type 2F
  • p.Val111Gly Single submitter Inborn genetic diseases ⚠
  • p.Val111Ile Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Val153Ile Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Val55Leu Single submitter ⚠
  • p.Val68Leu Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • p.Val85Ile Single submitter Charcot-Marie-Tooth disease axonal type 2F ⚠
  • c.365-13C>T No assertion criteria Charcot-Marie-Tooth disease
  • c.365-67C>T No assertion criteria Charcot-Marie-Tooth disease type 4
  • p.Arg188Trp No assertion criteria Charcot-Marie-Tooth disease ⚠
  • p.Gly34Arg No assertion criteria Charcot-Marie-Tooth disease ⚠
  • p.Thr164Ala No assertion criteria Charcot-Marie-Tooth disease ⚠