GNB4 — 307 ClinVar variants
All ClinVar germline GNB4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 107 flagged for review →
2 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 10 Conflicting · 29 Benign · 7 Benign/Likely benign · 120 Likely benign · 135 Uncertain significance
Full GNB4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 107
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GNB4 p.Asn268Ser
Conflicting
Single submitter
Inborn genetic diseases
-
GNB4 p.Thr198Ser
Conflicting
Single submitter
Inborn genetic diseases
-
GNB4 p.Val200Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 67
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GNB4 p.Arg251Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GNB4 p.Arg251Trp
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Arg314His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GNB4 p.Asn230Ser
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Asp212Val
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Gln6Glu
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Glu12Gln
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Leu210Phe
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Phe151Val
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Phe199Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GNB4 p.Phe253Leu
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate F
- GNB4 p.Thr181Ala Uncertain significance Multiple submitters
-
GNB4 p.Val112Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GNB4 p.Val187Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GNB4 p.Ala104Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Ala28Gly
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Arg150His
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Arg214Gln
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Arg214Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Arg256Cys
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Arg283Cys
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Arg283His
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Arg283Pro
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Arg49Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNB4 p.Asn119Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Asn237Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Asp195Gly
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Asp215Glu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
- GNB4 p.Asp267Glu Uncertain significance Single submitter
-
GNB4 p.Asp267Gly
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Asp83Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNB4 p.Cys114Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNB4 p.Cys148Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Cys250Tyr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Cys25Gly
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Glu130Gln
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Gly319Ala
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
- GNB4 p.Gly53Ser Uncertain significance Single submitter
-
GNB4 p.His62Pro
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Ile123Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Ile93Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Leu300Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Leu308Pro
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Lys280Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Lys78Gln
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease
-
GNB4 p.Lys89Gln
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
- GNB4 p.Lys89Thr Uncertain significance Single submitter
-
GNB4 p.Met196Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNB4 p.Met61Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNB4 p.Phe278Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Pro94Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Ser189Asn
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Ser233Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNB4 p.Ser245Phe
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Ser245Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Ser275Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNB4 p.Ser67Phe
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Thr164Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Thr164Lys
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Thr29Ala
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Thr29Met
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Thr86Lys
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Tyr111Phe
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Val135Ile
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Val307Phe
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Val31Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNB4 p.Val31Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
Predictors split 37
The independent predictors disagree with each other — read with care.
-
GNB4 p.Arg15Trp
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Arg22Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GNB4 p.Arg304Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GNB4 p.Arg46Gln
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Asp267Asn
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Asp303Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GNB4 p.Gly288Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GNB4 p.Leu285Val
Likely benign
Multiple submitters
Inborn genetic diseases
-
GNB4 p.Thr87Ala
Likely benign
Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Val276Ile
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Ala174Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Ala21Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Ala24Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNB4 p.Arg137Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNB4 p.Arg15Gln
Conflicting
Single submitter
Inborn genetic diseases
-
GNB4 p.Arg304His
Likely benign
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Arg42Gln
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Asn110Asp
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Asn237His
Conflicting
Single submitter
Inborn genetic diseases
-
GNB4 p.Asn36Ile
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Asp20His
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Asp38Gly
Conflicting
Single submitter
Inborn genetic diseases
-
GNB4 p.Cys25Tyr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Gln32Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Glu12Gly
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Glu3Lys
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.His266Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.His266Tyr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Lys301Asn
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Met45Ile
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Met61Leu
Conflicting
Single submitter
Inborn genetic diseases
-
GNB4 p.Phe180Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Ser2Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNB4 p.Thr177Asn
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Tyr85Cys
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Val320Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease dominant intermediate F
-
GNB4 p.Val40Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All GNB4 variants
Pathogenic 2
- p.Gly77Arg Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.Lys89Glu Single submitter Charcot-Marie-Tooth disease dominant intermediate F
Pathogenic/Likely pathogenic 1
- p.Lys57Glu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
Likely pathogenic 3
- p.Asp76Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Gly53Asp Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Gln220Arg No assertion criteria Charcot-Marie-Tooth disease dominant intermediate F
Conflicting classifications of pathogenicity 10
- c.204-4C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Ala242Thr Single submitter Inborn genetic diseases
- p.Arg15Gln Single submitter Inborn genetic diseases ⚠
- p.Asn237His Single submitter Inborn genetic diseases ⚠
- p.Asn268Ser Single submitter Inborn genetic diseases ⚠
- p.Asp38Gly Single submitter Inborn genetic diseases ⚠
- p.Gly306= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Met61Leu Single submitter Inborn genetic diseases ⚠
- p.Thr198Ser Single submitter Inborn genetic diseases ⚠
- p.Val200Ile Single submitter Inborn genetic diseases ⚠
Benign 29
- c.203+85A>G Multiple submitters
- c.204-67A>G Multiple submitters
- c.431-83T>A Multiple submitters
- c.58-14dup Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- c.916+60A>G Multiple submitters
- c.96+134C>T Multiple submitters
- c.-33C>T Multiple submitters
- c.*3G>A Multiple submitters
- p.Asn16= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.Ser39= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- c.203+13C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.203+88A>G Single submitter
- c.204-290C>G Single submitter
- c.268-4A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.430+154TA[3] Single submitter
- c.430+7T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.58-269T>C Single submitter
- c.699+221del Single submitter
- c.916+271G>C Single submitter
- c.917-138ATT[2] Single submitter
- c.917-138ATT[3] Single submitter
- c.917-150_917-148del Single submitter
- c.917-193C>T Single submitter
- c.917-266G>A Single submitter
- c.917-292T>C Single submitter
- c.917-4del Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.96+118_96+119del Single submitter
- c.-42-410T>A Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Ser2= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
Benign/Likely benign 7
- c.916+10_916+11insG Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- c.917-12dup Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.His62= Multiple submitters Inborn genetic diseases
- p.Ile81= Multiple submitters Inborn genetic diseases
- p.Thr198= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.Thr223Met Multiple submitters Inborn genetic diseases
- p.Val320Ile Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
Likely benign 120
- c.430+101G>A Multiple submitters
- c.431-8T>C Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- c.700-6G>A Multiple submitters Inborn genetic diseases
- c.96+17C>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- c.97-14G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.Ala257= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.Ala28= Multiple submitters Inborn genetic diseases
- p.Asn125= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.Gln9= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.Gly144= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.His54= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.Ile123Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.Leu192Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.Leu285Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe241= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.Phe278= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.Ser233Gly Multiple submitters Inborn genetic diseases
- p.Thr29= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.Thr87Ala Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Tyr65= Multiple submitters Inborn genetic diseases
- c.203+10T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.204-4C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.204-6C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.204-7_204-6insT Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.267+20C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.268-15_268-11del Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.268-16G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.268-19T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.268-6C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.430+11del Single submitter
- c.430+13A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.430+201_430+202del Single submitter
- c.431-13C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.431-15C>T Single submitter
- c.431-16A>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.431-5T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.431-60C>T Single submitter
- c.498-12T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.57+18C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.57+19A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.57+7C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.58-105_58-103del Single submitter
- c.58-18C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.58-273G>C Single submitter
- c.58-5T>A Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.699+10T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.699+12G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.699+137A>G Single submitter
- c.699+14A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.699+16T>A Single submitter
- c.699+206dup Single submitter
- c.699+287G>A Single submitter
- c.699+7G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.700-10T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.700-18del Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.700-18T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.700-198_700-197del Single submitter
- c.700-235T>C Single submitter
- c.916+10T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.916+16C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.916+17A>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.916+20T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.916+9A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.917-10T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.917-15G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.917-15G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.917-19T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.917-20T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.917-29G>A Single submitter
- c.917-49_917-7del Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.96+16T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.96+17_96+20del Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.96+9T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.-42-166del Single submitter
- c.-42-25T>C Single submitter
- p.Ala113= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Ala248= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Ala309= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Arg137= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Arg15= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Arg304His Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Arg68= Single submitter Inborn genetic diseases
- p.Asn295= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Asn340= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Asp212= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Asp215= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Cys121= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Cys250= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Gln176= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Gly116= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Gly182= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Gly238= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Gly319= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Ile157= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Ile171= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Leu126= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Leu168= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Leu252= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Leu261= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Leu262= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Leu263= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Leu318= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Leu51= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Lys301= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Lys78= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Ser208= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Ser227= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Ser275= Single submitter
- p.Ser97= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Thr128= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Thr181= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Thr223= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Thr249= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Thr299= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Thr299Met Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Tyr145= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Tyr289= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Val133= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Val307= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Val327= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
Uncertain significance 135
- c.497+1G>C Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.Arg137Ter Multiple submitters Inborn genetic diseases
- p.Arg15Trp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Arg214Ter Multiple submitters Inborn genetic diseases
- p.Arg22Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg251Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg251Trp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Arg304Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg314His Multiple submitters Inborn genetic diseases ⚠
- p.Arg46Gln Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Asn230Ser Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Asp212Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Asp267Asn Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Asp303Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gln6Glu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Glu12Gln Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Gly288Ala Multiple submitters Inborn genetic diseases ⚠
- p.Leu210Phe Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Phe151Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Phe199_Val200delinsTyrIle Multiple submitters
- p.Phe199Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Phe253Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Thr143= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F
- p.Thr181Ala Multiple submitters ⚠
- p.Val112Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val187Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val276Ile Multiple submitters Charcot-Marie-Tooth disease dominant intermediate F ⚠
- c.204-2A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.204-3T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.430+1G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.431-11_431-10del Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.431-2A>T Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.700-3T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.700-9C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.916+3T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.917-5T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.96+2T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.97-1_98del Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- c.97-11_97-7del Single submitter
- p.Ala104Val Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Ala174Val Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Ala21Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Ala24Pro Single submitter Inborn genetic diseases ⚠
- p.Ala28Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Ala305= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Arg134= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Arg134_Val135insGluMetTer Single submitter Inborn genetic diseases
- p.Arg137Gln Single submitter Inborn genetic diseases ⚠
- p.Arg150His Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Arg214Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Arg214Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Arg256Cys Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Arg283Cys Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Arg283His Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Arg283Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Arg42Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Arg46Ter Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Arg49Cys Single submitter Inborn genetic diseases ⚠
- p.Asn110Asp Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Asn119Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Asn237Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Asn313fs Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Asn36Ile Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Asp195Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Asp20His Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Asp215Glu Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Asp267Glu Single submitter ⚠
- p.Asp267Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Asp66Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Asp83Asn Single submitter Inborn genetic diseases ⚠
- p.Cys114Phe Single submitter Inborn genetic diseases ⚠
- p.Cys148Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Cys250Tyr Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Cys25Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Cys25Tyr Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Gln32Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Glu12Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Glu130Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Glu3Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Gly302del Single submitter
- p.Gly319Ala Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Gly53Ser Single submitter ⚠
- p.His266Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.His266Tyr Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.His62Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Ile123Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Ile123Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Ile157Met Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Ile93Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Leu190_Ser191insTer Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Leu262fs Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Leu263del Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Leu300Val Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Leu308Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Lys280Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Lys301Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Lys78Gln Single submitter Charcot-Marie-Tooth disease ⚠
- p.Lys78Ter Single submitter
- p.Lys89Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Lys89Thr Single submitter ⚠
- p.Met196Thr Single submitter Inborn genetic diseases ⚠
- p.Met45Ile Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Met61Ile Single submitter Inborn genetic diseases ⚠
- p.Phe180Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Phe278Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Pro94Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Ser122Thr Single submitter
- p.Ser161Ter Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Ser189Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Ser233Thr Single submitter Inborn genetic diseases ⚠
- p.Ser245Phe Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Ser245Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Ser275Phe Single submitter Inborn genetic diseases ⚠
- p.Ser2Arg Single submitter Inborn genetic diseases ⚠
- p.Ser35fs Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Ser67= Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Ser67Phe Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Thr128fs Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Thr164Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Thr164Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Thr165Ala Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Thr177Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Thr249Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Thr29Ala Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Thr29Met Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Thr86Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Trp99Ter Single submitter Charcot-Marie-Tooth disease dominant intermediate F
- p.Tyr111Phe Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Tyr85Cys Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Val135Ile Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Val307Phe Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Val31Ile Single submitter Inborn genetic diseases ⚠
- p.Val31Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Val320Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate F ⚠
- p.Val40Ala Single submitter Inborn genetic diseases ⚠