Sugi Variant

Sugi Variant/GDAP1

GDAP1 — 588 ClinVar variants

All ClinVar germline GDAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 243 flagged for review →

44 Pathogenic · 20 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 36 Conflicting · 37 Benign · 4 Benign/Likely benign · 118 Likely benign · 297 Uncertain significance

Full GDAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 243

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 6

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

Predictors agree, ClinVar conflicts 10

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

Predictors lean, ClinVar uncertain 134

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

Predictors split 93

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

All GDAP1 variants

Pathogenic 44

  • c.579+1G>A Multiple submitters Charcot-Marie-Tooth disease
  • p.Arg120Trp Multiple submitters GDAP1-related disorder ⚠
  • p.Arg125Ter Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • p.Arg282Cys Multiple submitters GDAP1-related disorder
  • p.Arg282His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln163Ter Multiple submitters GDAP1-related disorder
  • p.Met1Val Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • p.Ser194Ter Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.310+1G>A Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Ala156Gly Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ala184fs Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Ala312fs Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Arg310Trp Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Asp134fs Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Asp149Tyr Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Gln182Ter Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Gln235Ter Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Gln5Ter Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Gln8Ter Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Glu145fs Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Glu213Ter Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Glu233Ter Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Glu84fs Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Glu84Ter Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Gly10fs Single submitter Charcot-Marie-Tooth disease type 4A
  • p.His123fs Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Ile186fs Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • p.Leu109Ter Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Lys193fs Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Lys193Ter Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Lys207fs Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Lys47fs Single submitter Charcot-Marie-Tooth disease axonal type 2K
  • p.Lys47Ter Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Pro132fs Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Pro59fs Single submitter
  • p.Ser57fs Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Thr157Pro Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Trp238Ter Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Tyr117fs Single submitter Charcot-Marie-Tooth disease recessive intermediate A
  • p.Tyr280Ser Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Val121fs Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Val79fs Single submitter Charcot-Marie-Tooth disease type 4A
  • c.695_1077del No assertion criteria Charcot-Marie-Tooth disease recessive intermediate A
  • p.Thr288fs No assertion criteria Neuropathy, axonal, with vocal cord paresis, autosomal recessive

Pathogenic/Likely pathogenic 20

  • c.311-1G>A Multiple submitters GDAP1-related disorder
  • c.694+1G>A Multiple submitters Charcot-Marie-Tooth disease type 4A
  • p.Arg161His Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Arg191Ter Multiple submitters Charcot-Marie-Tooth disease type 4A
  • p.Arg257Ter Multiple submitters Charcot-Marie-Tooth disease type 4A
  • p.Arg310Gln Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Gln38Ter Multiple submitters Charcot-Marie-Tooth disease
  • p.Glu168fs Multiple submitters Charcot-Marie-Tooth disease recessive intermediate A
  • p.Gly327Asp Multiple submitters GDAP1-related disorder
  • p.His123Arg Multiple submitters GDAP1-related disorder ⚠
  • p.His256Arg Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive ⚠
  • p.Leu239Phe Multiple submitters GDAP1-related disorder ⚠
  • p.Met116Arg Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Met1fs Multiple submitters Charcot-Marie-Tooth disease type 4A
  • p.Phe263fs Multiple submitters Charcot-Marie-Tooth disease recessive intermediate A
  • p.Pro119Thr Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Pro153Leu Multiple submitters GDAP1-related disorder
  • p.Pro179fs Multiple submitters Charcot-Marie-Tooth disease type 4A
  • p.Pro231Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Tyr279_Tyr280insTer Multiple submitters Charcot-Marie-Tooth disease type 4A

Likely pathogenic 32

Conflicting classifications of pathogenicity 36

  • c.310+6del Single submitter Inborn genetic diseases
  • c.485-3C>T Single submitter Charcot-Marie-Tooth disease type 4A
  • c.485-6T>C Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1639A>G Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • p.Ala135= Single submitter Inborn genetic diseases
  • p.Ala156Ser Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ala252Thr Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Arg226del Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Arg273Gln Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive ⚠
  • p.Arg273Ter Single submitter GDAP1-related disorder
  • p.Arg341fs Single submitter Inborn genetic diseases
  • p.Asn64Ser Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Asp149His Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Cys51= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Glu126Lys Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Glu65Lys Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Gly271Arg Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.His82= Single submitter Charcot-Marie-Tooth disease axonal type 2K
  • p.Ile186Val Single submitter Inborn genetic diseases ⚠
  • p.Met116Thr Single submitter Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Met133Ile Single submitter Inborn genetic diseases
  • p.Pro13Ser Single submitter Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Pro153= Single submitter Inborn genetic diseases
  • p.Pro231= Single submitter Charcot-Marie-Tooth disease
  • p.Ser11Arg Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ser37Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser57Arg Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Thr157= Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • p.Thr322Met Single submitter Inborn genetic diseases ⚠
  • p.Trp67Leu Single submitter Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Arg226Ser No assertion criteria autosomal dominant Charcot-Marie-Tooth disease type 2K ⚠
  • p.Cys240Tyr No assertion criteria autosomal dominant Charcot-Marie-Tooth disease type 2K ⚠
  • p.Gln218Glu No assertion criteria Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Met1Leu No assertion criteria Charcot-Marie-Tooth disease
  • p.Pro274Leu No assertion criteria Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Trp31Ter No assertion criteria Charcot-Marie-Tooth disease type 4A

Benign 37

  • c.117+28G>A Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.118-87G>A Multiple submitters
  • c.311-126A>G Multiple submitters
  • c.311-185A>G Multiple submitters
  • c.311-85T>C Multiple submitters
  • c.485-186A>G Multiple submitters
  • c.485-20C>G Multiple submitters Charcot-Marie-Tooth disease
  • c.485-238C>A Multiple submitters
  • c.694+24C>T Multiple submitters Charcot-Marie-Tooth disease type 4A
  • c.694+75A>G Multiple submitters
  • c.-161G>T Multiple submitters
  • c.*1173G>T Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1647C>T Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1855A>G Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1878G>T Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*2214A>G Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*357A>G Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*561C>G Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*797A>G Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*830C>G Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • p.Ser169= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate A
  • c.117+244C>T Single submitter
  • c.117+339C>A Single submitter
  • c.118-233A>T Single submitter
  • c.310+243_310+244del Single submitter
  • c.311-146_311-143del Single submitter
  • c.484+182C>A Single submitter
  • c.579+119_579+120del Single submitter
  • c.579+417A>G Single submitter Charcot-Marie-Tooth disease
  • c.580-167CT[8] Single submitter
  • c.695-309C>T Single submitter
  • c.-51_-49del Single submitter
  • c.*1429A>G Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1489del Single submitter
  • c.*2244T>C Single submitter Charcot-Marie-Tooth disease recessive intermediate A
  • c.*2463A>G Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*920C>G Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive

Benign/Likely benign 4

  • c.117+12C>G Multiple submitters Charcot-Marie-Tooth disease type 4A
  • c.*61C>T Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • p.His30= Multiple submitters Charcot-Marie-Tooth disease type 4A
  • p.Ser34= Multiple submitters Charcot-Marie-Tooth disease type 4A

Likely benign 118

  • c.118-16G>A Multiple submitters Charcot-Marie-Tooth disease
  • c.310+61T>G Multiple submitters
  • c.311-7A>G Multiple submitters Charcot-Marie-Tooth disease
  • c.485-190C>T Multiple submitters
  • c.485-57T>A Multiple submitters
  • c.695-99A>G Multiple submitters
  • c.-20C>T Multiple submitters
  • c.-4C>G Multiple submitters
  • c.*1639A>T Multiple submitters Charcot-Marie-Tooth disease recessive intermediate A
  • c.*1819T>C Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • p.Arg41= Multiple submitters Charcot-Marie-Tooth disease
  • p.Asn270= Multiple submitters Charcot-Marie-Tooth disease type 4A
  • p.Asn298= Multiple submitters Charcot-Marie-Tooth disease
  • p.Asn72= Multiple submitters Inborn genetic diseases
  • p.Asp248= Multiple submitters Inborn genetic diseases
  • p.Cys240= Multiple submitters Charcot-Marie-Tooth disease type 4A
  • p.Gly75= Multiple submitters Inborn genetic diseases
  • p.Ile160= Multiple submitters Charcot-Marie-Tooth disease type 4A
  • p.Ile164= Multiple submitters Charcot-Marie-Tooth disease
  • p.Leu349= Multiple submitters Inborn genetic diseases
  • p.Lys203= Multiple submitters Charcot-Marie-Tooth disease
  • p.Lys25= Multiple submitters Charcot-Marie-Tooth disease
  • p.Thr158= Multiple submitters Charcot-Marie-Tooth disease type 4A
  • p.Tyr280= Multiple submitters Charcot-Marie-Tooth disease
  • c.117+10G>A Single submitter Charcot-Marie-Tooth disease type 4A
  • c.117+12C>T Single submitter Charcot-Marie-Tooth disease type 4A
  • c.117+18G>C Single submitter Charcot-Marie-Tooth disease type 4A
  • c.117+250C>A Single submitter
  • c.118-15T>C Single submitter Charcot-Marie-Tooth disease type 4A
  • c.118-7C>G Single submitter Charcot-Marie-Tooth disease type 4A
  • c.118-9C>A Single submitter Charcot-Marie-Tooth disease type 4A
  • c.310+155T>A Single submitter
  • c.310+20C>G Single submitter Charcot-Marie-Tooth disease type 4A
  • c.310+229G>A Single submitter
  • c.310+230T>C Single submitter
  • c.310+8del Single submitter Charcot-Marie-Tooth disease type 4A
  • c.311-11G>A Single submitter Charcot-Marie-Tooth disease type 4A
  • c.311-15G>A Single submitter Charcot-Marie-Tooth disease type 4A
  • c.311-17G>T Single submitter Charcot-Marie-Tooth disease type 4A
  • c.311-6T>C Single submitter Charcot-Marie-Tooth disease type 4A
  • c.311-85_311-83del Single submitter
  • c.484+19G>A Single submitter Charcot-Marie-Tooth disease type 4A
  • c.484+20A>G Single submitter Charcot-Marie-Tooth disease type 4A
  • c.484+218A>T Single submitter
  • c.484+293A>G Single submitter
  • c.484+6_484+19dup Single submitter Charcot-Marie-Tooth disease type 4A
  • c.485-17A>C Single submitter Charcot-Marie-Tooth disease type 4A
  • c.579+13_579+14dup Single submitter Charcot-Marie-Tooth disease type 4A
  • c.579+40G>A Single submitter
  • c.579+9A>G Single submitter Charcot-Marie-Tooth disease type 4A
  • c.580-154_580-153insC Single submitter
  • c.580-15T>C Single submitter Charcot-Marie-Tooth disease type 4A
  • c.580-24T>C Single submitter
  • c.580-279G>C Single submitter
  • c.694+138T>C Single submitter
  • c.694+8C>A Single submitter Charcot-Marie-Tooth disease type 4A
  • c.695-19T>C Single submitter Charcot-Marie-Tooth disease type 4A
  • c.695-20A>G Single submitter Charcot-Marie-Tooth disease type 4A
  • c.695-293C>T Single submitter
  • c.695-49978C>T Single submitter
  • c.*1006C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate A
  • c.*1162T>C Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1701T>C Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*2408G>A Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*723G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate A
  • p.Ala184= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Ala22= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Ala252= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Arg120= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Arg191= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Arg282= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Arg310= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Asp129= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Asp198= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Asp55= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Cys88= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Gln182= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Gln224= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Glu177= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Glu211= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Glu222= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Glu7= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.His138= Single submitter
  • p.His143= Single submitter
  • p.His295= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Ile152= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Ile81= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Leu131= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Leu171= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Leu181= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Leu239= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Leu251= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Leu255= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Leu305= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Leu60= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Lys206= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Lys314= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Lys342= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Phe35= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Pro119= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Pro13= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Pro317= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Ser150= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Ser194= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Ser37= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Thr278= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Thr288= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Thr307= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Thr32= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Thr322= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Tyr136= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Tyr279= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Val121= Single submitter
  • p.Val215= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Val24= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Val304= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Val325= Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Val40= Single submitter Charcot-Marie-Tooth disease type 4A

Uncertain significance 297

  • c.310+3A>G Multiple submitters Charcot-Marie-Tooth disease type 4A
  • c.579+5G>A Multiple submitters Charcot-Marie-Tooth disease type 4A
  • c.694+5G>A Multiple submitters Inborn genetic diseases
  • c.695-9T>A Multiple submitters Charcot-Marie-Tooth disease type 4A
  • c.*2210C>T Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • p.Ala175Pro Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ala20Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala303Thr Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ala336Ser Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Arg108Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg125Gln Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive ⚠
  • p.Arg159Gly Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Arg15Lys Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Arg273Gly Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Arg70Leu Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Arg9Gly Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Asn227Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn298His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp129Asn Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Asp21Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp55Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Cys240Ser Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Gln122del Multiple submitters Inborn genetic diseases
  • p.Gln218Pro Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Gln236Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln8Arg Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Glu104Gly Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Glu281Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly241Ser Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Gly294Arg Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Gly83Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Ile86Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Ile86Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile87Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Leu192Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Leu196Val Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Leu205Ser Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Leu261Pro Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Leu26Pro Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Leu329Phe Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Lys113Arg Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Lys190Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys193Gln Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Lys207Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Lys259Arg Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive ⚠
  • p.Lys291Arg Multiple submitters Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive ⚠
  • p.Met133Val Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Met347Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met69Ile Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Pro78Thr Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ser115Arg Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ser130Phe Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ser130Pro Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ser130Tyr Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ser169Leu Multiple submitters Charcot-Marie-Tooth disease type 4A
  • p.Ser61Asn Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Thr230Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr307Ala Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Tyr136Cys Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • p.Val249Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val292Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val311Met Multiple submitters Charcot-Marie-Tooth disease recessive intermediate A
  • p.Val326Asp Multiple submitters Charcot-Marie-Tooth disease type 4A ⚠
  • c.117+3A>G Single submitter Charcot-Marie-Tooth disease type 4A
  • c.118-3C>G Single submitter Charcot-Marie-Tooth disease type 4A
  • c.118-3del Single submitter
  • c.118-6T>C Single submitter Charcot-Marie-Tooth disease axonal type 2K
  • c.118-8T>G Single submitter Charcot-Marie-Tooth disease type 4A
  • c.310+4A>G Single submitter Charcot-Marie-Tooth disease type 4A
  • c.310+5T>C Single submitter Charcot-Marie-Tooth disease type 4A
  • c.311-6T>G Single submitter Charcot-Marie-Tooth disease type 4A
  • c.484+4T>C Single submitter Charcot-Marie-Tooth disease type 4A
  • c.484+6T>C Single submitter Charcot-Marie-Tooth disease type 4A
  • c.485-16A>G Single submitter Charcot-Marie-Tooth disease type 4A
  • c.485-18A>G Single submitter GDAP1-related disorder
  • c.694+3A>G Single submitter Charcot-Marie-Tooth disease type 4A
  • c.694+6T>A Single submitter Charcot-Marie-Tooth disease type 4A
  • c.695-1G>A Single submitter Charcot-Marie-Tooth disease type 4A
  • c.695-3T>C Single submitter Charcot-Marie-Tooth disease type 4A
  • c.*1030T>C Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1043G>C Single submitter Charcot-Marie-Tooth disease recessive intermediate A
  • c.*1080G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate A
  • c.*1124G>T Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1141C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate A
  • c.*1165C>G Single submitter Charcot-Marie-Tooth disease recessive intermediate A
  • c.*1183G>A Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1289T>C Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1301A>G Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1372A>G Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1377C>T Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1415C>T Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1416G>A Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1430T>A Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1437A>C Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1527G>A Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1570G>C Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1779G>T Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*18C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate A
  • c.*1905A>G Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1923C>T Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*195T>C Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1968C>T Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*1976C>T Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*19G>A Single submitter
  • c.*2125A>C Single submitter Charcot-Marie-Tooth disease recessive intermediate A
  • c.*2170A>G Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*2298A>C Single submitter Charcot-Marie-Tooth disease recessive intermediate A
  • c.*2298A>G Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*2542A>G Single submitter Charcot-Marie-Tooth disease recessive intermediate A
  • c.*2675C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate A
  • c.*2702T>C Single submitter Charcot-Marie-Tooth disease recessive intermediate A
  • c.*2723T>C Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*331C>T Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*444A>G Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*451C>T Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*618C>T Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*644G>T Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*663T>C Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*697A>G Single submitter Charcot-Marie-Tooth disease recessive intermediate A
  • c.*751A>G Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*858G>T Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*860T>C Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*864G>C Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*873T>C Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*898A>G Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*926C>A Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*931A>G Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • c.*961G>C Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • p.Ala135Gly Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ala175Gly Single submitter
  • p.Ala22Gly Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ala303Ser Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ala303Val Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ala312Thr Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Ala316Asp Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ala350Thr Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ala45Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg125Gly Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Arg159Ser Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Arg191Gln Single submitter Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Arg226Lys Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Arg257Gln Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Arg265Gly Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Arg273del Single submitter
  • p.Arg286Thr Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Arg310fs Single submitter Charcot-Marie-Tooth disease axonal type 2K
  • p.Arg315Gly Single submitter ⚠
  • p.Arg315Ser Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Arg354Ser Single submitter ⚠
  • p.Arg41Leu Single submitter ⚠
  • p.Arg41Ser Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Asn201Ser Single submitter Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Asn227Ser Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Asn297Lys Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Asn356Asp Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Asn356Ser Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Asn72Ser Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Asp103Gly Single submitter ⚠
  • p.Asp134Tyr Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Asp149Ala Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Asp149Gly Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Asp180Asn Single submitter ⚠
  • p.Asp210His Single submitter ⚠
  • p.Asp95His Single submitter ⚠
  • p.Cys140Phe Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Cys240Phe Single submitter Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Cys51Arg Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Gln224Pro Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Gln263Glu Single submitter GDAP1-related disorder
  • p.Gln38Arg Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive ⚠
  • p.Gln38Glu Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Gln99Leu Single submitter Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive ⚠
  • p.Glu126Asp Single submitter ⚠
  • p.Glu176Lys Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Glu213Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu213Lys Single submitter
  • p.Glu233Lys Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Glu277Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu277Gly Single submitter Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Glu65Gly Single submitter Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Glu84Gln Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Glu98Lys Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Gly10Arg Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Gly10Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly241Asp Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Gly262Glu Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Gly269Arg Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Gly331Arg Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Gly331del Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Gly83Arg Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.His143Tyr Single submitter Inborn genetic diseases ⚠
  • p.His33Asn Single submitter ⚠
  • p.His54Arg Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.His82Arg Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.His82Asn Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Ile152Met Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ile164Thr Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ile186Thr Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ile299Met Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ile348Val Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ile87Val Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Leu102Pro Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Leu102Val Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Leu197Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu239His Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Leu251Val Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Leu255Phe Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Leu276Trp Single submitter Charcot-Marie-Tooth disease recessive intermediate A ⚠
  • p.Leu293Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu324Phe Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Leu328Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu60Val Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Leu80Phe Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Lys113Glu Single submitter ⚠
  • p.Lys172Arg Single submitter ⚠
  • p.Lys190Glu Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Lys203Arg Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Lys206Arg Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Lys206Asn Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Lys207Glu Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Lys25Glu Single submitter ⚠
  • p.Lys272Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys313Glu Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Lys314Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys39Asn Single submitter Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Lys47Asn Single submitter Inborn genetic diseases ⚠
  • p.Met116Ile Single submitter ⚠
  • p.Met116Leu Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Met338Ile Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Met338Thr Single submitter ⚠
  • p.Phe101Tyr Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Phe244Ile Single submitter ⚠
  • p.Phe289Tyr Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Phe309Leu Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Pro119Ser Single submitter GDAP1-related disorder ⚠
  • p.Pro144Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro144Thr Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Pro153Gln Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Pro179Gln Single submitter ⚠
  • p.Pro231Ser Single submitter ⚠
  • p.Pro237Arg Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Pro274Ala Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Pro353Leu Single submitter ⚠
  • p.Pro355Ser Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Pro355Thr Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Pro59Ser Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ser11Ile Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ser150Phe Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ser169Phe Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ser302Ala Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ser302Pro Single submitter Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Ser346Arg Single submitter ⚠
  • p.Ser346Asn Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ser36Arg Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Thr137_His138insThr Single submitter
  • p.Thr158Ile Single submitter
  • p.Thr230Ile Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Thr278Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr322Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr32Met Single submitter ⚠
  • p.Thr91Ala Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Trp238Cys Single submitter ⚠
  • p.Tyr117Cys Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Tyr117Ser Single submitter Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Tyr155Cys Single submitter ⚠
  • p.Val121Gly Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Val121Ile Single submitter Inborn genetic diseases ⚠
  • p.Val148Met Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Val215Phe Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Val219Ala Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Val219Ile Single submitter ⚠
  • p.Val24Phe Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Val292Ile Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • p.Val311Leu Single submitter Charcot-Marie-Tooth disease type 4A
  • p.Val56Ile Single submitter Charcot-Marie-Tooth disease type 4A ⚠
  • c.485-2A>G No assertion criteria Charcot-Marie-Tooth disease axonal type 2K
  • p.Ala247Val No assertion criteria Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Arg120Gln No assertion criteria Charcot-Marie-Tooth disease type 4A ⚠
  • p.Arg120Gly No assertion criteria Charcot-Marie-Tooth disease ⚠
  • p.Asn227Asp No assertion criteria Charcot-Marie-Tooth disease ⚠
  • p.Asp129His No assertion criteria Charcot-Marie-Tooth disease ⚠
  • p.Gln122Lys No assertion criteria Charcot-Marie-Tooth disease ⚠
  • p.Gln99Ter No assertion criteria Charcot-Marie-Tooth disease
  • p.Glu114fs No assertion criteria Charcot-Marie-Tooth disease
  • p.Glu222Lys No assertion criteria Charcot-Marie-Tooth disease ⚠
  • p.Gly333Arg No assertion criteria Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Leu223Ter No assertion criteria Charcot-Marie-Tooth disease axonal type 2K
  • p.Leu344Arg No assertion criteria Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Phe289fs No assertion criteria Charcot-Marie-Tooth disease
  • p.Pro111His No assertion criteria Charcot-Marie-Tooth disease axonal type 2K ⚠
  • p.Pro78Leu No assertion criteria Charcot-Marie-Tooth disease type 4A ⚠
  • p.Ser130Cys No assertion criteria Charcot-Marie-Tooth disease ⚠
  • p.Ser34fs No assertion criteria Charcot-Marie-Tooth disease axonal type 2K
  • p.Thr100Ala No assertion criteria Charcot-Marie-Tooth disease type 1 ⚠
  • p.Thr147fs No assertion criteria Charcot-Marie-Tooth disease
  • p.Val219Asp No assertion criteria Charcot-Marie-Tooth disease ⚠
  • p.Val219Gly No assertion criteria Charcot-Marie-Tooth disease axonal type 2K ⚠