NDRG1 — 756 ClinVar variants

All ClinVar germline NDRG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 213 flagged for review →

16 Pathogenic · 7 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 24 Conflicting · 67 Benign · 8 Benign/Likely benign · 334 Likely benign · 278 Uncertain significance

Full NDRG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 213

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 9

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

NDRG1 p.Ala11Thr Conflicting Single submitter
Charcot-Marie-Tooth disease
NDRG1 p.Ala150Ser Conflicting Single submitter
Charcot-Marie-Tooth disease
NDRG1 p.Arg325Trp Conflicting Single submitter
Inborn genetic diseases
NDRG1 p.Asn229Ser Conflicting Single submitter
Charcot-Marie-Tooth disease
NDRG1 p.His41Arg Conflicting Single submitter
Inborn genetic diseases
NDRG1 p.Ile135Val Conflicting Single submitter
Charcot-Marie-Tooth disease
NDRG1 p.Leu292Ile Conflicting Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Lys53Arg Conflicting Single submitter
Inborn genetic diseases
NDRG1 p.Met111Leu Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 132

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

NDRG1 p.Ala108Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ala150Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ala268Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Ala370Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
NDRG1 p.Ala370Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Ala385Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Arg212His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
NDRG1 p.Arg3Trp Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Arg56Trp Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Asn166Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Asp116Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Asp288Ala Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Gln213Lys Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Gln87Pro Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Glu4Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
NDRG1 p.Gly222Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
NDRG1 p.Gly25Cys Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Gly386Arg Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Gly66Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.His69Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ile37Val Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Leu195Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Leu26Pro Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Met137Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Met5Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Pro298Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Pro316Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ser2Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ser357Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Ser384Arg Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Tyr110His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Val125Ile Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Val13Ala Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Val157Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Val205Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Val216Leu Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Val334Ile Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Val91Ile Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Val94Met Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Ala103Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Ala108Pro Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Ala119Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ala143Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ala287Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ala302Ser Uncertain significance Single submitter
NDRG1 p.Ala302Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ala96Asp Uncertain significance Single submitter
NDRG1 p.Arg212Leu Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Arg322Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Arg325Pro Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Arg3Gln Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Asn152Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Asn152Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Asn217Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Asp36Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Cys272Trp Uncertain significance Single submitter
NDRG1 p.Cys92Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Gln127Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Gln28Glu Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Gln297Arg Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Gln6His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Glu158Val Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Glu18Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Glu38Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Glu4Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Glu84Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Gly130Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Gly25Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Gly291Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Gly369Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Gly379Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Gly382Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Gly50Ala Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Gly66Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.His194Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.His214Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.His371Leu Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.His41Asn Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Ile134Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ile215Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ile23Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ile295Val Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Ile374Met Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Ile59Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ile59Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Leu16Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Leu187Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Lys388Gln Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Met111Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Met115Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Met137Val Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Met156Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Met201Thr Uncertain significance Single submitter
NDRG1 p.Met201Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Phe89Leu Uncertain significance Single submitter
NDRG1 p.Pro113Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Pro244Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Pro298Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ser105Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ser114Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ser233Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Ser2Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ser378Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ser378Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ser384Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Thr22Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Thr279Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Thr281Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Thr335Ile Uncertain significance Single submitter
NDRG1 p.Thr340Ile Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Thr71Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Trp172Arg Uncertain significance Single submitter
NDRG1 p.Trp175Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Tyr73Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Tyr73His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Val17Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Val192Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Val208Ile Uncertain significance Single submitter
NDRG1 p.Val216Met Uncertain significance Single submitter
NDRG1 p.Val334Phe Uncertain significance Single submitter
NDRG1 p.Ala90Val Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Ile228Val Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Leu224Met Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Leu40Ser Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Lys14Arg Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Met115Thr Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Met390Leu Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Pro57Arg Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Thr210Asn Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Thr356Ser Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Tyr231Asn Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4
NDRG1 p.Val44Ala Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4D

Predictors split 72

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

NDRG1 p.Ala103Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Arg322Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Arg322His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Arg327His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Arg341Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Arg341His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Arg343Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Arg343His Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Arg353Cys Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Arg353His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Arg361Cys Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Arg363Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Arg363His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Gly102Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Ile163Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Ile37Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Met67Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Phe129Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ser317Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ser362Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Thr47Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
NDRG1 p.Thr47Met Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Val191Met Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Val269Met Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Val309Met Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Val46Ile Uncertain significance Multiple submitters
Inborn genetic diseases
NDRG1 p.Ala104Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ala169Thr Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Ala169Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ala299Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease
NDRG1 p.Ala329Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Arg241Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Arg351Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Arg361Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease
NDRG1 p.Arg361His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Arg363Leu Uncertain significance Single submitter
NDRG1 p.Asn220Lys Conflicting Single submitter
Inborn genetic diseases
NDRG1 p.Asn273Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Asn74Lys Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Asp174Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Gln202Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Glu348Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Glu348Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Glu358Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Glu368Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Glu391Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Gly349Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Gly359Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.His194Tyr Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.His355Pro Uncertain significance Single submitter
NDRG1 p.Ile163Phe Uncertain significance Single submitter
NDRG1 p.Leu195His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Lys53Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Met115Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Met121Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Met219Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Pro107Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ser105Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ser133Gly Uncertain significance Single submitter
NDRG1 p.Ser319Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ser319Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Ser357Gly Uncertain significance Single submitter
Inborn genetic diseases
NDRG1 p.Ser364Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Thr139Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Thr282Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Thr328Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Thr356Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Tyr73Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
NDRG1 p.Arg325Gln Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Arg363Pro Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Ile37Met Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4D
NDRG1 p.Val46Leu Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease type 4D

All NDRG1 variants

Pathogenic 16

p.Arg148Ter Multiple submitters NDRG1-related disorder
c.205+1G>T Single submitter Charcot-Marie-Tooth disease type 4
c.205+2T>A Single submitter Charcot-Marie-Tooth disease type 4
c.327-1G>A Single submitter Charcot-Marie-Tooth disease type 4D
c.389+92_594+1717dup Single submitter Charcot-Marie-Tooth disease type 4D
c.390-1G>A Single submitter Charcot-Marie-Tooth disease type 4D
p.Gln202Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gln294Ter Single submitter Charcot-Marie-Tooth disease type 4D
p.His194fs Single submitter Charcot-Marie-Tooth disease type 4D
p.His214fs Single submitter Charcot-Marie-Tooth disease type 4
p.Pro123fs Single submitter Charcot-Marie-Tooth disease type 4
p.Ser114fs Single submitter Charcot-Marie-Tooth disease type 4
p.Trp175fs Single submitter Charcot-Marie-Tooth disease type 4
p.Trp175Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Tyr110Ter Single submitter Charcot-Marie-Tooth disease type 4
c.537+2_537+10del No assertion criteria Charcot-Marie-Tooth disease type 4D

Pathogenic/Likely pathogenic 7

c.205+1G>A Multiple submitters Charcot-Marie-Tooth disease type 4
c.205+1G>C Multiple submitters Inborn genetic diseases
c.944-1G>T Multiple submitters Charcot-Marie-Tooth disease type 4D
p.Gly171fs Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ile228fs Multiple submitters Charcot-Marie-Tooth disease
p.Lys14Ter Multiple submitters Charcot-Marie-Tooth disease type 4D
p.Tyr79Ter Multiple submitters Charcot-Marie-Tooth disease type 4D

Likely pathogenic 22

p.Trp172Ter Multiple submitters Charcot-Marie-Tooth disease type 4D
c.206-2A>G Single submitter Charcot-Marie-Tooth disease type 4D
c.326+1G>A Single submitter Charcot-Marie-Tooth disease type 4
c.390-2A>G Single submitter Charcot-Marie-Tooth disease type 4D
c.450+2_450+3del Single submitter Charcot-Marie-Tooth disease type 4
c.537+1G>T Single submitter Charcot-Marie-Tooth disease type 4
c.595-2A>T Single submitter Charcot-Marie-Tooth disease type 4
c.63+1G>A Single submitter Charcot-Marie-Tooth disease type 4
c.63+1G>C Single submitter Charcot-Marie-Tooth disease type 4D
c.808-2A>G Single submitter Charcot-Marie-Tooth disease type 4
c.855+2T>C Single submitter Charcot-Marie-Tooth disease type 4
c.891+2T>C Single submitter Charcot-Marie-Tooth disease type 4
c.892-1G>C Single submitter Charcot-Marie-Tooth disease type 4D
c.944-1G>C Single submitter Charcot-Marie-Tooth disease type 4D
c.99+1G>A Single submitter Charcot-Marie-Tooth disease type 4
p.Arg353fs Single submitter Charcot-Marie-Tooth disease type 4D
p.Asn153fs Single submitter Charcot-Marie-Tooth disease type 4D
p.Gln87Ter Single submitter Charcot-Marie-Tooth disease type 4D
p.Lys198fs Single submitter Charcot-Marie-Tooth disease type 4D
p.Phe196fs Single submitter Charcot-Marie-Tooth disease type 4D
p.Pro254fs Single submitter Charcot-Marie-Tooth disease type 4D
p.Tyr231Ter Single submitter Charcot-Marie-Tooth disease type 4D

Conflicting classifications of pathogenicity 24

c.100-3C>T Single submitter Charcot-Marie-Tooth disease type 4
c.537+18C>T Single submitter Charcot-Marie-Tooth disease type 4
c.63+6T>C Single submitter Inborn genetic diseases
c.944-13C>T Single submitter Charcot-Marie-Tooth disease type 4
c.-19+14C>G Single submitter Charcot-Marie-Tooth disease type 4D
c.-8G>A Single submitter Charcot-Marie-Tooth disease type 4D
c.*2C>T Single submitter Charcot-Marie-Tooth disease type 4D
p.Ala11Thr Single submitter Charcot-Marie-Tooth disease ⚠
p.Ala150Ser Single submitter Charcot-Marie-Tooth disease ⚠
p.Ala176= Single submitter Inborn genetic diseases
p.Ala90= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg325Trp Single submitter Inborn genetic diseases ⚠
p.Asn220Lys Single submitter Inborn genetic diseases ⚠
p.Asn229Ser Single submitter Charcot-Marie-Tooth disease ⚠
p.Gln6Ter Single submitter Inborn genetic diseases
p.His41Arg Single submitter Inborn genetic diseases ⚠
p.Ile135Val Single submitter Charcot-Marie-Tooth disease ⚠
p.Leu292Ile Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Lys53Arg Single submitter Inborn genetic diseases ⚠
p.Met111Leu Single submitter Inborn genetic diseases ⚠
p.Ser317= Single submitter Charcot-Marie-Tooth disease type 4
p.Ser347= Single submitter Charcot-Marie-Tooth disease type 4
p.Ser367= Single submitter Charcot-Marie-Tooth disease type 4
c.538-1G>A No assertion criteria Charcot-Marie-Tooth disease

Benign 67

c.100-169C>T Multiple submitters
c.206-264A>G Multiple submitters
c.326+64G>C Multiple submitters
c.327-175A>G Multiple submitters
c.327-33C>T Multiple submitters Charcot-Marie-Tooth disease type 4D
c.327-48C>G Multiple submitters Charcot-Marie-Tooth disease type 4D
c.327-67G>A Multiple submitters
c.390-218C>T Multiple submitters
c.390-34C>T Multiple submitters
c.450+152C>T Multiple submitters
c.450+61A>G Multiple submitters Charcot-Marie-Tooth disease type 4D
c.451-202C>T Multiple submitters
c.538-132G>C Multiple submitters Charcot-Marie-Tooth disease type 4D
c.594+129C>T Multiple submitters
c.594+197T>C Multiple submitters
c.595-129G>A Multiple submitters
c.64-6T>C Multiple submitters Charcot-Marie-Tooth disease
c.698+151A>G Multiple submitters
c.698+84A>G Multiple submitters Charcot-Marie-Tooth disease type 4D
c.756-5C>T Multiple submitters Charcot-Marie-Tooth disease
c.855+148T>C Multiple submitters Charcot-Marie-Tooth disease type 4D
c.856-157= Multiple submitters
c.856-221A>T Multiple submitters
c.856-244T>C Multiple submitters
c.856-245G>T Multiple submitters
c.891+39C>A Multiple submitters Charcot-Marie-Tooth disease type 4D
c.892-126A>G Multiple submitters
c.892-5C>T Multiple submitters Charcot-Marie-Tooth disease
c.943+215T>C Multiple submitters
c.943+94G>A Multiple submitters
c.944-42G>C Multiple submitters
c.944-87= Multiple submitters
c.99+187A>G Multiple submitters
c.-18-150A>G Multiple submitters
c.-18-170A>G Multiple submitters
c.-19+243C>T Multiple submitters
c.-19+367G>T Multiple submitters
c.-19+461T>C Multiple submitters
c.-19+49C>T Multiple submitters
c.-19+519T>G Multiple submitters
c.*100G>A Multiple submitters Charcot-Marie-Tooth disease type 4D
c.*691G>A Multiple submitters Charcot-Marie-Tooth disease type 4D
c.*956T>C Multiple submitters Charcot-Marie-Tooth disease type 4D
c.390-9del Single submitter Charcot-Marie-Tooth disease type 4
c.450+121TG[11] Single submitter
c.450+121TG[9] Single submitter
c.450+306G>A Single submitter
c.537+120C>T Single submitter
c.64-174dup Single submitter
c.699-221G>T Single submitter
c.699-282G>A Single submitter
c.807+253C>T Single submitter
c.807+268A>G Single submitter
c.807+310T>C Single submitter
c.855+296A>G Single submitter
c.855+8G>A Single submitter Charcot-Marie-Tooth disease type 4
c.99+234G>A Single submitter
c.99+245T>C Single submitter
c.-18-191T>C Single submitter
c.-19+402GT[18] Single submitter
c.-19+402GT[20] Single submitter
c.-19+438_-19+445del Single submitter
c.*1135G>A Single submitter Charcot-Marie-Tooth disease type 4D
c.*1294T>C Single submitter Charcot-Marie-Tooth disease type 4D
c.*711C>T Single submitter Charcot-Marie-Tooth disease type 4D
c.*834T>A Single submitter Charcot-Marie-Tooth disease type 4D
c.*866A>T Single submitter Charcot-Marie-Tooth disease type 4D

Benign/Likely benign 8

c.64-20dup Multiple submitters Charcot-Marie-Tooth disease type 4
c.943+18C>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.-18-2_-18-1del Multiple submitters Charcot-Marie-Tooth disease type 4D
c.*264C>G Multiple submitters Charcot-Marie-Tooth disease type 4D
c.*69C>T Multiple submitters Charcot-Marie-Tooth disease type 4D
p.Ala169= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Gly102= Multiple submitters Charcot-Marie-Tooth disease
p.Met67Val Multiple submitters Charcot-Marie-Tooth disease type 4

Likely benign 334

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

c.100-40A>T Multiple submitters
c.205+53G>A Multiple submitters
c.206-106A>C Multiple submitters
c.389+13G>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.389+82G>T Multiple submitters Charcot-Marie-Tooth disease type 4D
c.389+8C>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.450+14C>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.450+155G>A Multiple submitters
c.537+16G>A Multiple submitters Charcot-Marie-Tooth disease type 4
c.537+8G>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.594+46C>T Multiple submitters
c.594+9C>T Multiple submitters Charcot-Marie-Tooth disease
c.595-12C>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.808-6G>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.855+180A>G Multiple submitters
c.856-9C>T Multiple submitters Charcot-Marie-Tooth disease
c.891+15G>A Multiple submitters Charcot-Marie-Tooth disease type 4
c.891+283G>A Multiple submitters
c.892-11G>A Multiple submitters Charcot-Marie-Tooth disease type 4
c.943+19G>A Multiple submitters Charcot-Marie-Tooth disease type 4
c.944-175A>C Multiple submitters
c.*1622T>G Multiple submitters Charcot-Marie-Tooth disease type 4D
p.340TRSRSHTSEG[4] Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ala287= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg325= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg351= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Asn164= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Asn55= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Asp101= Multiple submitters Inborn genetic diseases
p.Asp31= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Gly159= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Gly197= Multiple submitters Charcot-Marie-Tooth disease type 4
p.His365= Multiple submitters Inborn genetic diseases
p.His45= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ile23= Multiple submitters Inborn genetic diseases
p.Leu131= Multiple submitters Inborn genetic diseases
p.Leu256= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ser354= Multiple submitters Charcot-Marie-Tooth disease
p.Ser362= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ser378= Multiple submitters Charcot-Marie-Tooth disease
p.Ser384= Multiple submitters Inborn genetic diseases
p.Ser43= Multiple submitters Inborn genetic diseases
p.Thr24= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Thr375= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Tyr144= Multiple submitters Charcot-Marie-Tooth disease type 4
c.100-12G>A Single submitter Charcot-Marie-Tooth disease type 4
c.100-12G>C Single submitter Charcot-Marie-Tooth disease type 4
c.100-20T>C Single submitter Charcot-Marie-Tooth disease type 4
c.100-23_100-17del Single submitter Charcot-Marie-Tooth disease type 4
c.100-5C>T Single submitter Charcot-Marie-Tooth disease type 4
c.100-6C>T Single submitter Charcot-Marie-Tooth disease type 4
c.205+10G>A Single submitter Charcot-Marie-Tooth disease type 4
c.205+18C>T Single submitter Charcot-Marie-Tooth disease type 4
c.205+8_205+11del Single submitter Charcot-Marie-Tooth disease type 4
c.205+8C>A Single submitter Charcot-Marie-Tooth disease type 4
c.206-11C>A Single submitter Charcot-Marie-Tooth disease type 4
c.206-14C>T Single submitter Charcot-Marie-Tooth disease type 4
c.206-16C>T Single submitter Charcot-Marie-Tooth disease type 4
c.206-17T>G Single submitter Charcot-Marie-Tooth disease
c.206-8T>C Single submitter Charcot-Marie-Tooth disease type 4
c.206-9G>C Single submitter Charcot-Marie-Tooth disease type 4
c.326+12C>T Single submitter Charcot-Marie-Tooth disease type 4
c.326+13T>A Single submitter Charcot-Marie-Tooth disease type 4
c.326+14T>C Single submitter Charcot-Marie-Tooth disease type 4
c.326+17C>T Single submitter Charcot-Marie-Tooth disease type 4
c.326+20A>G Single submitter Charcot-Marie-Tooth disease type 4
c.326+4AG[3] Single submitter Charcot-Marie-Tooth disease type 4
c.326+8G>T Single submitter Charcot-Marie-Tooth disease type 4
c.326+9C>G Single submitter Charcot-Marie-Tooth disease type 4
c.327-114del Single submitter
c.327-13G>C Single submitter Charcot-Marie-Tooth disease type 4
c.327-19T>G Single submitter Charcot-Marie-Tooth disease type 4
c.327-20C>T Single submitter Charcot-Marie-Tooth disease type 4
c.327-4C>G Single submitter Charcot-Marie-Tooth disease type 4
c.327-5C>T Single submitter Charcot-Marie-Tooth disease type 4
c.389+10A>G Single submitter Charcot-Marie-Tooth disease type 4
c.389+17A>G Single submitter Charcot-Marie-Tooth disease type 4
c.389+18G>C Single submitter Charcot-Marie-Tooth disease type 4
c.389+9G>A Single submitter Charcot-Marie-Tooth disease type 4
c.390-11T>G Single submitter Charcot-Marie-Tooth disease type 4
c.390-16G>T Single submitter Charcot-Marie-Tooth disease type 4
c.390-19T>C Single submitter Charcot-Marie-Tooth disease type 4
c.390-20A>G Single submitter Charcot-Marie-Tooth disease type 4
c.390-309T>C Single submitter
c.390-5T>C Single submitter Charcot-Marie-Tooth disease type 4
c.450+10T>G Single submitter Charcot-Marie-Tooth disease type 4
c.450+12G>C Single submitter Charcot-Marie-Tooth disease type 4
c.450+213A>G Single submitter
c.450+8C>T Single submitter Charcot-Marie-Tooth disease type 4
c.450+9T>C Single submitter Charcot-Marie-Tooth disease type 4
c.451-14G>A Single submitter Charcot-Marie-Tooth disease type 4
c.451-14G>T Single submitter Charcot-Marie-Tooth disease type 4
c.451-20C>G Single submitter Charcot-Marie-Tooth disease type 4
c.451-7A>T Single submitter Charcot-Marie-Tooth disease type 4
c.451-8A>G Single submitter Charcot-Marie-Tooth disease type 4
c.537+15T>C Single submitter Charcot-Marie-Tooth disease type 4
c.537+16G>T Single submitter Charcot-Marie-Tooth disease type 4
c.537+17T>C Single submitter Charcot-Marie-Tooth disease type 4
c.537+6dup Single submitter Charcot-Marie-Tooth disease type 4
c.537+7T>G Single submitter Charcot-Marie-Tooth disease type 4
c.538-10T>C Single submitter Charcot-Marie-Tooth disease type 4
c.538-5T>A Single submitter Charcot-Marie-Tooth disease type 4
c.538-8C>T Single submitter Charcot-Marie-Tooth disease type 4
c.538-9C>T Single submitter Charcot-Marie-Tooth disease type 4
c.594+10G>A Single submitter Charcot-Marie-Tooth disease type 4
c.594+12G>C Single submitter Charcot-Marie-Tooth disease type 4
c.594+8G>T Single submitter Charcot-Marie-Tooth disease type 4
c.595-10C>A Single submitter Charcot-Marie-Tooth disease type 4
c.595-12C>G Single submitter Charcot-Marie-Tooth disease type 4
c.595-13T>G Single submitter Charcot-Marie-Tooth disease type 4
c.595-14C>G Single submitter Charcot-Marie-Tooth disease type 4
c.595-15C>T Single submitter Charcot-Marie-Tooth disease type 4
c.595-16A>G Single submitter Charcot-Marie-Tooth disease type 4
c.595-17C>T Single submitter Charcot-Marie-Tooth disease type 4
c.595-4G>A Single submitter Charcot-Marie-Tooth disease type 4
c.595-5T>C Single submitter Charcot-Marie-Tooth disease type 4
c.63+16C>T Single submitter Charcot-Marie-Tooth disease type 4
c.63+19G>C Single submitter Charcot-Marie-Tooth disease type 4
c.63+227A>G Single submitter
c.63+7G>A Single submitter Charcot-Marie-Tooth disease type 4
c.63+8G>A Single submitter Charcot-Marie-Tooth disease type 4
c.63+9A>C Single submitter Charcot-Marie-Tooth disease type 4
c.64-10C>G Single submitter Charcot-Marie-Tooth disease type 4
c.64-11T>C Single submitter Charcot-Marie-Tooth disease type 4
c.64-12G>T Single submitter Charcot-Marie-Tooth disease type 4
c.64-19T>A Single submitter Charcot-Marie-Tooth disease type 4
c.64-20T>A Single submitter Charcot-Marie-Tooth disease type 4
c.64-20T>C Single submitter Charcot-Marie-Tooth disease type 4
c.698+10T>C Single submitter Charcot-Marie-Tooth disease type 4
c.698+11G>A Single submitter Charcot-Marie-Tooth disease type 4
c.698+12T>C Single submitter Charcot-Marie-Tooth disease type 4
c.698+13A>G Single submitter Charcot-Marie-Tooth disease type 4
c.698+14G>A Single submitter Charcot-Marie-Tooth disease type 4
c.698+17C>T Single submitter Charcot-Marie-Tooth disease type 4
c.698+18A>G Single submitter Charcot-Marie-Tooth disease type 4
c.698+242C>T Single submitter
c.698+7G>T Single submitter Charcot-Marie-Tooth disease type 4
c.698+8G>A Single submitter Charcot-Marie-Tooth disease type 4
c.698+9A>G Single submitter Charcot-Marie-Tooth disease type 4
c.699-238T>C Single submitter
c.699-295A>G Single submitter
c.808-11C>T Single submitter Charcot-Marie-Tooth disease type 4
c.808-12C>T Single submitter Charcot-Marie-Tooth disease type 4
c.808-13C>T Single submitter Charcot-Marie-Tooth disease type 4
c.808-16C>T Single submitter Charcot-Marie-Tooth disease type 4
c.808-288G>A Single submitter
c.808-7T>C Single submitter Charcot-Marie-Tooth disease type 4
c.808-9C>G Single submitter Charcot-Marie-Tooth disease type 4
c.808-9C>T Single submitter Charcot-Marie-Tooth disease type 4
c.855+13C>T Single submitter Charcot-Marie-Tooth disease type 4
c.855+14_855+15del Single submitter Charcot-Marie-Tooth disease type 4
c.855+14A>G Single submitter Charcot-Marie-Tooth disease type 4
c.855+16T>A Single submitter Charcot-Marie-Tooth disease type 4
c.855+16T>C Single submitter Charcot-Marie-Tooth disease type 4
c.855+20G>T Single submitter Charcot-Marie-Tooth disease type 4
c.856-11C>G Single submitter Charcot-Marie-Tooth disease type 4
c.856-11del Single submitter Charcot-Marie-Tooth disease type 4
c.856-13C>G Single submitter Charcot-Marie-Tooth disease type 4
c.856-19G>A Single submitter Charcot-Marie-Tooth disease type 4
c.856-20C>G Single submitter Charcot-Marie-Tooth disease type 4
c.856-20C>T Single submitter Charcot-Marie-Tooth disease type 4
c.856-5C>T Single submitter Charcot-Marie-Tooth disease type 4
c.856-7C>A Single submitter Charcot-Marie-Tooth disease type 4
c.856-7C>G Single submitter Charcot-Marie-Tooth disease type 4
c.856-8T>A Single submitter Charcot-Marie-Tooth disease type 4
c.856-9C>G Single submitter Charcot-Marie-Tooth disease type 4
c.891+10A>G Single submitter Charcot-Marie-Tooth disease type 4
c.891+11T>C Single submitter Charcot-Marie-Tooth disease type 4
c.891+13T>G Single submitter Charcot-Marie-Tooth disease type 4
c.891+61G>A Single submitter
c.892-123C>A Single submitter
c.892-13T>A Single submitter Charcot-Marie-Tooth disease type 4
c.892-148_892-145del Single submitter
c.892-15C>G Single submitter Charcot-Marie-Tooth disease type 4
c.892-15C>T Single submitter Charcot-Marie-Tooth disease type 4
c.892-17C>G Single submitter Charcot-Marie-Tooth disease type 4
c.892-4G>A Single submitter Charcot-Marie-Tooth disease type 4
c.892-9C>G Single submitter Charcot-Marie-Tooth disease type 4
c.892-9C>T Single submitter Charcot-Marie-Tooth disease type 4
c.943+19G>T Single submitter Charcot-Marie-Tooth disease type 4
c.943+7A>G Single submitter Charcot-Marie-Tooth disease type 4
c.943+7dup Single submitter Charcot-Marie-Tooth disease type 4
c.944-17G>A Single submitter Charcot-Marie-Tooth disease type 4
c.944-20G>T Single submitter Charcot-Marie-Tooth disease type 4
c.944-4C>G Single submitter Charcot-Marie-Tooth disease type 4
c.944-6C>T Single submitter Charcot-Marie-Tooth disease type 4
c.944-7C>A Single submitter Charcot-Marie-Tooth disease type 4
c.944-7C>T Single submitter Charcot-Marie-Tooth disease type 4
c.944-8T>C Single submitter Charcot-Marie-Tooth disease type 4
c.99+10G>A Single submitter Charcot-Marie-Tooth disease type 4
c.99+10G>T Single submitter Charcot-Marie-Tooth disease type 4
c.99+12A>T Single submitter Charcot-Marie-Tooth disease type 4
c.99+14G>A Single submitter Charcot-Marie-Tooth disease type 4
c.99+18C>A Single submitter Charcot-Marie-Tooth disease type 4
c.99+18C>G Single submitter Charcot-Marie-Tooth disease type 4
c.-18-204G>A Single submitter
c.-19+92G>A Single submitter
c.*1473G>A Single submitter Charcot-Marie-Tooth disease type 4D
c.*18C>T Single submitter
c.*25G>A Single submitter
c.*377G>A Single submitter Charcot-Marie-Tooth disease type 4D
c.*653T>C Single submitter Charcot-Marie-Tooth disease type 4D
p.Ala104= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala108= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala143= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala230= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala302= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala329= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala380= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala385= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg212= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg341= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg343= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg353= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg361= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg363= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg56= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn153= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn204= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn217= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn223= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn229= Single submitter Charcot-Marie-Tooth disease type 4
p.Asp189= Single submitter Charcot-Marie-Tooth disease type 4
p.Asp9= Single submitter
p.Asp95= Single submitter Charcot-Marie-Tooth disease type 4
p.Cys92= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln117= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln127= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln185= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln202= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln28= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln310= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln6= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln87= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln99= Single submitter Charcot-Marie-Tooth disease type 4
p.Glu158= Single submitter Charcot-Marie-Tooth disease type 4
p.Glu170= Single submitter Charcot-Marie-Tooth disease type 4
p.Glu271= Single submitter Charcot-Marie-Tooth disease type 4
p.Glu29= Single submitter Charcot-Marie-Tooth disease type 4
p.Glu391= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly142= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly182= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly222= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly25= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly290= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly291= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly369= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly382= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly42= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly54= Single submitter Charcot-Marie-Tooth disease type 4
p.His209= Single submitter Charcot-Marie-Tooth disease type 4
p.His214= Single submitter Charcot-Marie-Tooth disease type 4
p.His345= Single submitter Charcot-Marie-Tooth disease type 4
p.His371= Single submitter
p.His88= Single submitter Charcot-Marie-Tooth disease type 4
p.His93= Single submitter Charcot-Marie-Tooth disease type 4
p.Ile37= Single submitter Charcot-Marie-Tooth disease type 4
p.Ile65= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu10= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu118= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu126= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu146= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu151= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu16= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu162= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu187= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu195= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu226= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu26= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu27= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu276= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu283= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu284= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu301= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu323= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu337= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu372= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu48= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu76= Single submitter Charcot-Marie-Tooth disease type 4
p.Lys14= Single submitter Charcot-Marie-Tooth disease type 4
p.Lys280= Single submitter Charcot-Marie-Tooth disease type 4
p.Lys300= Single submitter Charcot-Marie-Tooth disease type 4
p.Lys388= Single submitter Charcot-Marie-Tooth disease type 4
p.Phe106= Single submitter Charcot-Marie-Tooth disease type 4
p.Phe308= Single submitter Charcot-Marie-Tooth disease type 4
p.Phe77= Single submitter Charcot-Marie-Tooth disease type 4
p.Phe89= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro107= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro113= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro154= Single submitter
p.Pro167= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro188= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro221= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro293= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro298= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro316= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro387= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro75= Single submitter Charcot-Marie-Tooth disease type 4
p.Ser114= Single submitter Charcot-Marie-Tooth disease type 4
p.Ser181= Single submitter Charcot-Marie-Tooth disease type 4

Uncertain significance 278

c.595-6A>G Multiple submitters Charcot-Marie-Tooth disease type 4
c.699-3C>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.891+5G>A Multiple submitters Inborn genetic diseases
c.943+5G>A Multiple submitters Charcot-Marie-Tooth disease type 4
c.*854G>A Multiple submitters Charcot-Marie-Tooth disease type 4D
p.340_349TRSRSHTSEG[2] Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ala103Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala108Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ala150Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ala268Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala370Gly Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Ala370Val Multiple submitters Charcot-Marie-Tooth disease type 4D ⚠
p.Ala385Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg212Cys Multiple submitters Charcot-Marie-Tooth disease
p.Arg212His Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Arg235Cys Multiple submitters Charcot-Marie-Tooth disease
p.Arg322Cys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg322His Multiple submitters Charcot-Marie-Tooth disease type 4D ⚠
p.Arg327His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg341Cys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg341His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg343Cys Multiple submitters Charcot-Marie-Tooth disease type 4D ⚠
p.Arg343His Multiple submitters Inborn genetic diseases ⚠
p.Arg351Ter Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg353Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg353His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg361Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg363Cys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg363His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg3Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg56Trp Multiple submitters Inborn genetic diseases ⚠
p.Asn166Lys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Asp116Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Asp288Ala Multiple submitters Inborn genetic diseases ⚠
p.Gln213Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln87Pro Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Glu4Asp Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Gly102Ser Multiple submitters Charcot-Marie-Tooth disease type 4D ⚠
p.Gly222Ser Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Gly25Cys Multiple submitters Inborn genetic diseases ⚠
p.Gly386Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly66Ser Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.His69Tyr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ile163Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile37Phe Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ile37Val Multiple submitters Inborn genetic diseases ⚠
p.Leu195Phe Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Leu26Pro Multiple submitters Inborn genetic diseases ⚠
p.Met137Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Met5Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Met67Ile Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Phe129Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Pro188Leu Multiple submitters Inborn genetic diseases
p.Pro298Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Pro316Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser2Ala Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser317Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser357Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser362Asn Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser384Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr47Ala Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Thr47Met Multiple submitters Inborn genetic diseases ⚠
p.Tyr110His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Tyr144Cys Multiple submitters Charcot-Marie-Tooth disease type 4
p.Tyr62Cys Multiple submitters Inborn genetic diseases
p.Val125Ile Multiple submitters Inborn genetic diseases ⚠
p.Val13Ala Multiple submitters Inborn genetic diseases ⚠
p.Val157Met Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Val191Met Multiple submitters Inborn genetic diseases ⚠
p.Val205Met Multiple submitters Charcot-Marie-Tooth disease type 4D ⚠
p.Val216Leu Multiple submitters Inborn genetic diseases ⚠
p.Val269Met Multiple submitters Inborn genetic diseases ⚠
p.Val309Met Multiple submitters Inborn genetic diseases ⚠
p.Val334Ile Multiple submitters Inborn genetic diseases ⚠
p.Val46Ile Multiple submitters Inborn genetic diseases ⚠
p.Val91Ile Multiple submitters Inborn genetic diseases ⚠
p.Val94Met Multiple submitters Inborn genetic diseases ⚠
c.326+5G>C Single submitter Charcot-Marie-Tooth disease type 4
c.389+7G>C Single submitter
c.537+6G>A Single submitter Charcot-Marie-Tooth disease type 4
c.698+5T>G Single submitter Charcot-Marie-Tooth disease type 4
c.698+6G>T Single submitter Charcot-Marie-Tooth disease type 4
c.855+4C>G Single submitter Charcot-Marie-Tooth disease type 4
c.891+1G>A Single submitter
c.891+3G>C Single submitter
c.-123T>G Single submitter Charcot-Marie-Tooth disease type 4D
c.-128C>T Single submitter Charcot-Marie-Tooth disease type 4D
c.-18-8C>G Single submitter
c.-64G>A Single submitter Charcot-Marie-Tooth disease type 4D
c.*1179G>C Single submitter Charcot-Marie-Tooth disease type 4D
c.*1195G>T Single submitter Charcot-Marie-Tooth disease type 4D
c.*1296C>T Single submitter Charcot-Marie-Tooth disease type 4D
c.*1299C>T Single submitter Charcot-Marie-Tooth disease type 4D
c.*1300G>C Single submitter Charcot-Marie-Tooth disease type 4D
c.*1339C>T Single submitter Charcot-Marie-Tooth disease type 4D
c.*1340G>A Single submitter Charcot-Marie-Tooth disease type 4D
c.*1361C>A Single submitter Charcot-Marie-Tooth disease type 4D
c.*1621C>T Single submitter Charcot-Marie-Tooth disease type 4D
c.*1706G>A Single submitter Charcot-Marie-Tooth disease type 4D
c.*184G>A Single submitter Charcot-Marie-Tooth disease type 4D
c.*201A>T Single submitter Charcot-Marie-Tooth disease type 4D
c.*228G>A Single submitter Charcot-Marie-Tooth disease type 4D
c.*306C>T Single submitter Charcot-Marie-Tooth disease type 4D
c.*308C>T Single submitter Charcot-Marie-Tooth disease type 4D
c.*31T>G Single submitter Charcot-Marie-Tooth disease type 4D
c.*392G>A Single submitter Charcot-Marie-Tooth disease type 4D
c.*402C>T Single submitter Charcot-Marie-Tooth disease type 4D
c.*403G>A Single submitter Charcot-Marie-Tooth disease type 4D
c.*48C>A Single submitter Charcot-Marie-Tooth disease type 4D
c.*525G>A Single submitter Charcot-Marie-Tooth disease type 4D
c.*618T>G Single submitter Charcot-Marie-Tooth disease type 4D
c.*677C>T Single submitter Charcot-Marie-Tooth disease type 4D
c.*791C>T Single submitter Charcot-Marie-Tooth disease type 4D
c.*91G>A Single submitter Charcot-Marie-Tooth disease type 4D
p.340_349TRSRSHTSEG[4] Single submitter Charcot-Marie-Tooth disease type 4
p.340TRSRSHTSEG[1] Single submitter Charcot-Marie-Tooth disease type 4
p.340TRSRSHTSEG[2] Single submitter Charcot-Marie-Tooth disease type 4
p.Ala103Pro Single submitter Charcot-Marie-Tooth disease type 4D ⚠
p.Ala103Thr Single submitter Charcot-Marie-Tooth disease type 4
p.Ala104Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala108Pro Single submitter Inborn genetic diseases ⚠
p.Ala119Pro Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala141Ser Single submitter Inborn genetic diseases
p.Ala143Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala169Thr Single submitter Inborn genetic diseases ⚠
p.Ala169Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala177Thr Single submitter Charcot-Marie-Tooth disease type 4
p.Ala287Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala299Thr Single submitter Charcot-Marie-Tooth disease ⚠
p.Ala302Ser Single submitter ⚠
p.Ala302Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala329Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala96Asp Single submitter ⚠
p.Arg212Leu Single submitter Inborn genetic diseases ⚠
p.Arg241Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg322Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg325Pro Single submitter Inborn genetic diseases ⚠
p.Arg327Leu Single submitter Charcot-Marie-Tooth disease type 4
p.Arg351Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg361Gly Single submitter Charcot-Marie-Tooth disease ⚠
p.Arg361His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg363Leu Single submitter ⚠
p.Arg3Gln Single submitter Inborn genetic diseases ⚠
p.Arg56Gln Single submitter Charcot-Marie-Tooth disease type 4
p.Asn152Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn152Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn217Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn273Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn74Lys Single submitter Inborn genetic diseases ⚠
p.Asp174Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp288fs Single submitter Charcot-Marie-Tooth disease type 4
p.Asp36Tyr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Cys272Trp Single submitter ⚠
p.Cys289fs Single submitter Charcot-Marie-Tooth disease type 4
p.Cys92Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln117Leu Single submitter Charcot-Marie-Tooth disease type 4
p.Gln127Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln202Pro Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln28Glu Single submitter Inborn genetic diseases ⚠
p.Gln297Arg Single submitter Inborn genetic diseases ⚠
p.Gln6His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu158Val Single submitter Inborn genetic diseases ⚠
p.Glu18Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu21= Single submitter Charcot-Marie-Tooth disease type 4
p.Glu348Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu348Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu358_Arg361del Single submitter
p.Glu358Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu368Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu38Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu391Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu4Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu84del Single submitter Charcot-Marie-Tooth disease type 4
p.Glu84Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly130Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly25Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly291Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly349Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly359Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly369_Ala370insThrArgSerArgSerHisThrSerGluGly Single submitter Charcot-Marie-Tooth disease type 4
p.Gly369_Ala370insThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGly Single submitter Charcot-Marie-Tooth disease type 4
p.Gly369Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly379Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly382Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly50Ala Single submitter Inborn genetic diseases ⚠
p.Gly66Cys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.His194Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.His194Tyr Single submitter Inborn genetic diseases ⚠
p.His214Tyr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.His355Pro Single submitter ⚠
p.His371Leu Single submitter Inborn genetic diseases ⚠
p.His41Asn Single submitter Inborn genetic diseases ⚠
p.His88Asn Single submitter Inborn genetic diseases
p.Ile134Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ile163Phe Single submitter ⚠
p.Ile215Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ile23Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ile295Val Single submitter Inborn genetic diseases ⚠
p.Ile374Met Single submitter Inborn genetic diseases ⚠
p.Ile59Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ile59Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Leu16Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Leu187Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Leu195His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Lys300Arg Single submitter Charcot-Marie-Tooth disease type 4
p.Lys388Gln Single submitter Inborn genetic diseases ⚠
p.Lys53Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Met111Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Met115Ile Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Met115Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Met121Ile Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Met137Val Single submitter Inborn genetic diseases ⚠
p.Met156Ile Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Met190del Single submitter Inborn genetic diseases
p.Met201Thr Single submitter ⚠
p.Met201Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Met219Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Phe308fs Single submitter
p.Phe89Leu Single submitter ⚠
p.Pro107Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Pro113Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Pro244Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Pro298Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser105Cys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser105Phe Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser114Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser133Gly Single submitter ⚠
p.Ser233Asn Single submitter Charcot-Marie-Tooth disease type 4D ⚠
p.Ser2Pro Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser319Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser319Ile Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser357Gly Single submitter Inborn genetic diseases ⚠
p.Ser364Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser378Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser378Pro Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser384Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser393del Single submitter Charcot-Marie-Tooth disease type 4
p.Thr139Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Thr22Ala Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Thr279Ala Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Thr281Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Thr282Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Thr328Ile Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Thr335Ile Single submitter ⚠
p.Thr340Ile Single submitter Inborn genetic diseases ⚠
p.Thr356Ala Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Thr71Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Trp172Arg Single submitter ⚠
p.Trp175Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Tyr73Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Tyr73Cys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Tyr73His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Val17Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Val192Met Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Val208Ile Single submitter ⚠
p.Val216Met Single submitter ⚠
p.Val334Phe Single submitter ⚠
c.100-6C>A No assertion criteria Charcot-Marie-Tooth disease type 4D
c.327-5C>G No assertion criteria Charcot-Marie-Tooth disease type 4D
c.*10C>T No assertion criteria Charcot-Marie-Tooth disease type 4D
p.Ala90Val No assertion criteria Charcot-Marie-Tooth disease type 4D ⚠
p.Arg325Gln No assertion criteria Charcot-Marie-Tooth disease type 4D ⚠
p.Arg363Pro No assertion criteria Charcot-Marie-Tooth disease type 4D ⚠
p.Cys289= No assertion criteria Charcot-Marie-Tooth disease type 4D
p.Ile228Val No assertion criteria Charcot-Marie-Tooth disease type 4D ⚠
p.Ile37Met No assertion criteria Charcot-Marie-Tooth disease type 4D ⚠
p.Leu224Met No assertion criteria Charcot-Marie-Tooth disease type 4D ⚠
p.Leu40Ser No assertion criteria Charcot-Marie-Tooth disease type 4D ⚠
p.Lys14Arg No assertion criteria Charcot-Marie-Tooth disease type 4D ⚠
p.Lys388fs No assertion criteria Charcot-Marie-Tooth disease type 4D
p.Met115Thr No assertion criteria Charcot-Marie-Tooth disease type 4D ⚠
p.Met390Leu No assertion criteria Charcot-Marie-Tooth disease type 4D ⚠
p.Pro57Arg No assertion criteria Charcot-Marie-Tooth disease type 4D ⚠
p.Thr210Asn No assertion criteria Charcot-Marie-Tooth disease type 4D ⚠
p.Thr356Ser No assertion criteria Charcot-Marie-Tooth disease type 4D ⚠
p.Tyr231Asn No assertion criteria Charcot-Marie-Tooth disease type 4 ⚠
p.Val44Ala No assertion criteria Charcot-Marie-Tooth disease type 4D ⚠
p.Val46Leu No assertion criteria Charcot-Marie-Tooth disease type 4D ⚠