Sugi Variant

Sugi Variant/SH3TC2

SH3TC2 — 1844 ClinVar variants

All ClinVar germline SH3TC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 625 flagged for review →

96 Pathogenic · 23 Pathogenic/Likely pathogenic · 49 Likely pathogenic · 181 Conflicting · 105 Benign · 62 Benign/Likely benign · 458 Likely benign · 870 Uncertain significance

Full SH3TC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 625

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 100

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

Predictors lean, ClinVar uncertain 425

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 425

Predictors split 99

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

All SH3TC2 variants

Pathogenic 96

  • p.Arg1052Ter Multiple submitters Charcot-Marie-Tooth disease
  • p.Arg1101fs Multiple submitters SH3TC2-related disorder
  • p.Arg1109Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Arg904Ter Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • p.Cys737Ter Multiple submitters Inborn genetic diseases
  • p.Gln699Ter Multiple submitters Charcot-Marie-Tooth disease
  • p.Gln710Ter Multiple submitters Charcot-Marie-Tooth disease type 4C
  • p.Gln71Ter Multiple submitters Charcot-Marie-Tooth disease type 4C
  • p.Gln892Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Glu1005Ter Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • p.Glu462Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Glu830Ter Multiple submitters Charcot-Marie-Tooth disease type 4C
  • p.Gly560fs Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Leu128Ter Multiple submitters Charcot-Marie-Tooth disease type 4C
  • p.Leu832fs Multiple submitters Charcot-Marie-Tooth disease type 4C
  • p.Lys93= Multiple submitters SH3TC2-related disorder
  • p.Ser207Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ser312fs Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Tyr1142fs Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Tyr1209Ter Multiple submitters Charcot-Marie-Tooth disease type 4C
  • p.Tyr266Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Tyr943Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.3054-2A>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.3054-2A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.3327+1G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.3328-1G>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.530-2A>T Single submitter
  • c.731+2T>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.732-1G>T Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala34fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala691fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg15fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg583fs Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Asn1013_Leu1014insTer Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asn325fs Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Asp455_Leu456insTer Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asp604delinsAlaTer Single submitter Charcot-Marie-Tooth disease type 4
  • p.Cys1026Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Cys197Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Cys601fs Single submitter
  • p.Gln103Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gln1201Ter Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Gln175fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gln226Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gln660Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gln695Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gln716Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gln756Ter Single submitter
  • p.Gln867Ter Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Glu1039fs Single submitter Inborn genetic diseases
  • p.Glu410fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu451Ter Single submitter
  • p.Glu632fs Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Glu769Ter Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Glu797fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Glu830fs Single submitter Charcot-Marie-Tooth disease
  • p.Glu84fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly623fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Gly730fs Single submitter Charcot-Marie-Tooth disease type 4C
  • p.His1170_Leu1172del Single submitter Charcot-Marie-Tooth disease type 4
  • p.His611fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ile555fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ile573fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu364fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu602fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys19Ter Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Lys274fs Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Lys516Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys519delinsAsnGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer Single submitter Charcot-Marie-Tooth disease type 4
  • p.Lys520delinsAlaGlyArgGlyGlySerCysLeuTer Single submitter Charcot-Marie-Tooth disease type 4
  • p.Phe1169_Ala1173del Single submitter Charcot-Marie-Tooth disease type 4
  • p.Phe489Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Phe507fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro1114fs Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Pro667fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ser335fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ser669fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ser754fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Thr366fs Single submitter
  • p.Trp1047fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.Trp1199Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Trp307Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Trp408Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Trp517Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Trp925Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Tyr1107Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Tyr1142Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Tyr579Ter Single submitter
  • p.Tyr680Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Tyr806Ter Single submitter Charcot-Marie-Tooth disease type 4
  • p.Tyr970Ter Single submitter Charcot-Marie-Tooth disease type 4
  • c.3675+2dup No assertion criteria Charcot-Marie-Tooth disease type 4C
  • p.Glu20Ter No assertion criteria Charcot-Marie-Tooth disease type 4C
  • p.Glu423Ter No assertion criteria Charcot-Marie-Tooth disease type 4C
  • p.Leu78fs No assertion criteria Charcot-Marie-Tooth disease type 4C
  • p.Val230fs No assertion criteria Charcot-Marie-Tooth disease

Pathogenic/Likely pathogenic 23

  • c.1178-1G>A Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.3676-8G>A Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.386-2A>C Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.805+2T>C Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala633fs Multiple submitters Charcot-Marie-Tooth disease type 4C
  • p.Arg1171Cys Multiple submitters Charcot-Marie-Tooth disease
  • p.Arg529Gln Multiple submitters Inborn genetic diseases
  • p.Arg658Cys Multiple submitters SH3TC2-related disorder
  • p.Arg954Ter Multiple submitters SH3TC2-related disorder
  • p.Arg997fs Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • p.Asn881Ser Multiple submitters susceptibility to mononeuropathy of the median nerve, mild ⚠
  • p.Gln460Ter Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • p.Glu166Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Glu657Lys Multiple submitters Charcot-Marie-Tooth disease type 4C ⚠
  • p.Gly310Glu Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Gly843Val Multiple submitters Charcot-Marie-Tooth disease
  • p.Lys274Ter Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Lys284delinsArgProTer Multiple submitters Charcot-Marie-Tooth disease
  • p.Met1Val Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • p.Phe320fs Multiple submitters SH3TC2-related disorder
  • p.Tyr125Ter Multiple submitters Charcot-Marie-Tooth disease type 4C
  • p.Val852fs Multiple submitters Charcot-Marie-Tooth disease
  • p.Asp564Gly No assertion criteria Charcot-Marie-Tooth disease type 4C

Likely pathogenic 49

  • c.53-2A>G Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Arg529Cys Multiple submitters Charcot-Marie-Tooth disease type 4C
  • p.Arg529Trp Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • p.Leu139Pro Multiple submitters Charcot-Marie-Tooth disease type 4C
  • p.Val1158fs Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.1001+1G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.1135+3G>C Single submitter
  • c.279+1G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.279+1G>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.280-2A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.2872+1G>A Single submitter SH3TC2-related disorder
  • c.3205-2A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.3478+2T>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.385+1G>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.385+2T>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.52+4_52+5del Single submitter
  • c.731+1G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.731+5G>A Single submitter
  • c.806-1G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.806-2A>G Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asn881Asp Single submitter
  • p.Asn881fs Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Asn881Ile Single submitter Charcot-Marie-Tooth disease type 4
  • p.Cys737fs Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Cys801_Leu802delinsTer Single submitter
  • p.Gln105fs Single submitter
  • p.Gln105Ter Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Gln1072Ter Single submitter
  • p.Gln244Ter Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Gln418Ter Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Gln46Ter Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Gln546fs Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Gln811Ter Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Glu1134fs Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Glu428Ter Single submitter
  • p.Glu612Ter Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Gly723fs Single submitter
  • p.Leu1053fs Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Leu432fs Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • p.Leu571Pro Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Leu763Pro Single submitter Charcot-Marie-Tooth disease type 4
  • p.Leu919Ter Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Leu951fs Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Ser55fs Single submitter peripheral neuropathy
  • p.Thr1098fs Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Trp245Ter Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Trp262Ter Single submitter SH3TC2-related disorder
  • p.Tyr169Ter Single submitter SH3TC2-related disorder
  • p.Tyr859Ter Single submitter Charcot-Marie-Tooth disease type 4C

Conflicting classifications of pathogenicity 181

  • c.1002-7G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.1177+5G>A Single submitter Inborn genetic diseases
  • c.280-5C>T Single submitter Inborn genetic diseases
  • c.2872+4_2872+7del Single submitter Charcot-Marie-Tooth disease type 4
  • c.2873-4T>A Single submitter Inborn genetic diseases
  • c.3676-13A>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.529+1G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.*10052C>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10863C>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10864G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*11357G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*11589C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*11927T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*13465C>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*13598A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*14827T>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*15235A>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*15639A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16257T>C Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*1720T>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*19406A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*1982C>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*20773G>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*20787G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*20882A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*21149A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*21658A>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*2248A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*2500C>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*3034A>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*3035C>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*3058A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*5277G>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*5368C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*5689A>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*6392C>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*6682G>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*7006T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*7917A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*8111A>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*882G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*9872T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • p.Ala1043Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala1121= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1145Pro Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ala1278Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ala183= Single submitter Inborn genetic diseases
  • p.Ala339= Single submitter Inborn genetic diseases
  • p.Ala393Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ala468Phe Single submitter Charcot-Marie-Tooth disease
  • p.Ala468Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ala468Val Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Ala528Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ala590Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala673Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala97Thr Single submitter hereditary motor and sensory neuropathy ⚠
  • p.Arg1012Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1012Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg1099His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg1101= Single submitter Inborn genetic diseases
  • p.Arg1127Gln Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Arg1171Leu Single submitter SH3TC2-related disorder ⚠
  • p.Arg11Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg1215His Single submitter Inborn genetic diseases ⚠
  • p.Arg1279Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg1279Trp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg15Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg227Trp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg272Cys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg369Cys Single submitter susceptibility to mononeuropathy of the median nerve, mild ⚠
  • p.Arg369His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg440His Single submitter Inborn genetic diseases ⚠
  • p.Arg529His Single submitter Charcot-Marie-Tooth disease type 4C ⚠
  • p.Arg536Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg605Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg605His Single submitter susceptibility to mononeuropathy of the median nerve, mild ⚠
  • p.Arg61His Single submitter Inborn genetic diseases ⚠
  • p.Arg621Cys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg621His Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Arg641Cys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg648Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg648Trp Single submitter hereditary motor and sensory neuropathy ⚠
  • p.Arg64Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg753Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg753Trp Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Arg77Trp Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Arg851Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg851Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg861Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg861Trp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg89Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg997Gln Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Arg997Trp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Asn1013Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Asn1096Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn574Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp1229Val Single submitter Inborn genetic diseases ⚠
  • p.Asp25Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp752Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp817Tyr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Asp85= Single submitter Inborn genetic diseases
  • p.Asp85Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Cys148Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Gln108Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Gln46Pro Single submitter Inborn genetic diseases ⚠
  • p.Gln86Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Glu192Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu477= Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • p.Glu503Lys Single submitter susceptibility to mononeuropathy of the median nerve, mild ⚠
  • p.Glu769Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu985Gly Single submitter Inborn genetic diseases ⚠
  • p.Gly1091Val Single submitter ⚠
  • p.Gly1217Asp Single submitter Charcot-Marie-Tooth disease type 4C ⚠
  • p.Gly299Ala Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Gly299Ser Single submitter Inborn genetic diseases
  • p.Gly415= Single submitter Inborn genetic diseases
  • p.Gly775Ser Single submitter Inborn genetic diseases ⚠
  • p.His1100fs Single submitter Charcot-Marie-Tooth disease type 4
  • p.His1102Arg Single submitter Inborn genetic diseases ⚠
  • p.His1180Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.His938Tyr Single submitter Charcot-Marie-Tooth disease ⚠
  • p.His953Pro Single submitter Inborn genetic diseases
  • p.Ile1253Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ile470Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ile698= Single submitter Inborn genetic diseases
  • p.Leu1048Pro Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Leu1056Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu1200= Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Leu172Pro Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Leu173Met Single submitter Inborn genetic diseases ⚠
  • p.Leu391Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu575Phe Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Leu768= Single submitter Inborn genetic diseases
  • p.Leu95= Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • p.Lys1085Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Lys41Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Lys610= Single submitter Inborn genetic diseases
  • p.Met1184Val Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Met334Val Single submitter SH3TC2-related disorder ⚠
  • p.Met739Val Single submitter Inborn genetic diseases ⚠
  • p.Phe399Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro251Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro387Leu Single submitter susceptibility to mononeuropathy of the median nerve, mild ⚠
  • p.Pro388Leu Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Pro442= Single submitter Inborn genetic diseases
  • p.Pro442Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro469Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Pro666Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser1006Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser101Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ser1271= Single submitter Inborn genetic diseases
  • p.Ser215= Single submitter Charcot-Marie-Tooth disease
  • p.Ser265Phe Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ser29= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ser312Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ser433Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser55Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser589= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ser781Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr1098Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr277Met Single submitter SH3TC2-related disorder ⚠
  • p.Thr27Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr366Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr495Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr915Ser Single submitter Inborn genetic diseases ⚠
  • p.Tyr130= Single submitter Inborn genetic diseases
  • p.Tyr169His Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Tyr250del Single submitter SH3TC2-related disorder
  • p.Tyr279Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr618Cys Single submitter Inborn genetic diseases ⚠
  • p.Val1105= Single submitter Inborn genetic diseases
  • p.Val1105Met Single submitter Inborn genetic diseases ⚠
  • p.Val220= Single submitter Charcot-Marie-Tooth disease
  • p.Val220Met Single submitter Inborn genetic diseases ⚠
  • p.Val230Ala Single submitter Inborn genetic diseases ⚠
  • p.Val414Met Single submitter Inborn genetic diseases ⚠
  • p.Val508Met Single submitter Inborn genetic diseases ⚠
  • p.Val619Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
  • p.Val66Ala Single submitter Inborn genetic diseases ⚠
  • p.Val675Ile Single submitter Charcot-Marie-Tooth disease type 4C ⚠
  • c.530-2A>G No assertion criteria Charcot-Marie-Tooth disease

Benign 105

  • c.2872+9G>A Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*10968G>A Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*11390A>G Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*11852G>T Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*14621G>T Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*14766T>A Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*14856C>A Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*15823T>C Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*16020A>C Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*1639T>C Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*1909G>T Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*1935T>C Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*19406A>T Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*19519G>A Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*2956C>T Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*3077C>T Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*3136G>A Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*3196T>C Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*39A>C Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*5490G>A Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*5799C>T Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*6436G>T Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*6692A>G Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • p.Asp774= Multiple submitters Charcot-Marie-Tooth disease
  • p.Leu956= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Pro450= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Val1158Ile Multiple submitters Charcot-Marie-Tooth disease
  • c.1002-119G>A Single submitter
  • c.1002-13del Single submitter Charcot-Marie-Tooth disease type 4
  • c.1002-13dup Single submitter Charcot-Marie-Tooth disease type 4
  • c.1135+197T>G Single submitter
  • c.2872+37A>G Single submitter
  • c.3053+103G>A Single submitter
  • c.3054-241G>A Single submitter
  • c.3054-268A>G Single submitter
  • c.3054-65T>C Single submitter
  • c.3205-138G>A Single submitter
  • c.3205-340A>G Single submitter
  • c.3327+225C>G Single submitter
  • c.3327+70C>T Single submitter
  • c.3328-315G>A Single submitter
  • c.3676-251T>C Single submitter
  • c.3676-269G>C Single submitter
  • c.3676-94C>A Single submitter
  • c.3676-98C>G Single submitter
  • c.386-195T>C Single submitter
  • c.52+237G>A Single submitter
  • c.52+239C>T Single submitter
  • c.529+178C>T Single submitter
  • c.53-161C>T Single submitter
  • c.53-258G>T Single submitter
  • c.-495A>G Single submitter
  • c.*10051ACCA[12] Single submitter
  • c.*10051ACCA[13] Single submitter
  • c.*10051ACCA[14] Single submitter
  • c.*10099A>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10101C>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10120C>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10485G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10614G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*12190G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*122G>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*1246G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*12969C>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*1309C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*13514A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*14411G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*14562G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16631G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*16950T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*17036C>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*17317G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*17703A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*17903A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*18299C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*18554G>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*18699T>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*19040A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*1940_*1941insT Single submitter
  • c.*1944_*1946del Single submitter
  • c.*20166T>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*20207C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*20463T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*2862G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*3246A>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*3694T>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*3860G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*391G>C Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*4555A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*4603C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*4638A>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*4719C>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*5999G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*6051G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*6623G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*719G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*7251A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*7292C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*7451C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*8248G>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*8756G>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*929G>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*9504G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • p.Ala468= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Pro469= Single submitter Charcot-Marie-Tooth disease type 4

Benign/Likely benign 62

  • c.1177+10G>A Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.151+15_151+16del Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.2873-18T>C Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.3479-8A>G Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.385+4_385+8del Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.386-24A>T Multiple submitters
  • c.*10767G>A Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*11120G>A Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*11604G>A Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*14750A>G Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*14894G>A Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*15061C>T Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*19270G>A Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*21472A>G Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*2237G>A Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*2397G>A Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*2428C>T Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*2900G>T Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*47C>T Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*6162C>T Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*6242A>G Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*6392C>T Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*6470T>C Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*6510G>A Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*8053G>A Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • p.Ala1121Val Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala1278= Multiple submitters Inborn genetic diseases
  • p.Ala468Ser Multiple submitters Charcot-Marie-Tooth disease
  • p.Ala745= Multiple submitters Charcot-Marie-Tooth disease
  • p.Ala80Thr Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Arg529= Multiple submitters Charcot-Marie-Tooth disease
  • p.Arg63Lys Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Arg641= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Asn897Lys Multiple submitters Charcot-Marie-Tooth disease
  • p.Asp481= Multiple submitters Inborn genetic diseases
  • p.Asp614= Multiple submitters Inborn genetic diseases
  • p.Gln699= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Gly171Glu Multiple submitters Charcot-Marie-Tooth disease
  • p.Gly398= Multiple submitters Charcot-Marie-Tooth disease
  • p.His696Arg Multiple submitters Charcot-Marie-Tooth disease
  • p.Ile298= Multiple submitters Charcot-Marie-Tooth disease
  • p.Leu494= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Phe491= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Phe551= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Pro1198= Multiple submitters Charcot-Marie-Tooth disease
  • p.Ser159= Multiple submitters Charcot-Marie-Tooth disease
  • p.Ser971= Multiple submitters Inborn genetic diseases
  • p.Thr1098= Multiple submitters Inborn genetic diseases
  • c.*11010A>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*13204A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*13230C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16784C>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*1750C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*18606T>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*20142A>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*22212G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*3079G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*4298C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*5536T>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*5947C>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*6047T>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*7918C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild

Likely benign 458

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

  • c.1002-118C>T Multiple submitters
  • c.1002-8C>T Multiple submitters Charcot-Marie-Tooth disease
  • c.1135+15T>G Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.1136-12A>G Multiple submitters Charcot-Marie-Tooth disease
  • c.1177+9C>T Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.152-14C>G Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.279+101C>T Multiple submitters
  • c.279+145G>A Multiple submitters
  • c.280-4G>A Multiple submitters Charcot-Marie-Tooth disease
  • c.2873-16C>T Multiple submitters Charcot-Marie-Tooth disease
  • c.2873-17C>T Multiple submitters Charcot-Marie-Tooth disease
  • c.3053+16G>C Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.3327+119T>G Multiple submitters
  • c.3328-117C>T Multiple submitters
  • c.3479-20C>T Multiple submitters Charcot-Marie-Tooth disease
  • c.3676-9C>T Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.385+197G>A Multiple submitters
  • c.529+8T>A Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.529+92T>C Multiple submitters
  • c.53-6C>T Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.731+17C>A Multiple submitters Charcot-Marie-Tooth disease
  • c.*20564A>T Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*21786G>A Multiple submitters Charcot-Marie-Tooth disease type 4C
  • c.*3061A>G Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*6301C>T Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*6600T>C Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • c.*7810T>A Multiple submitters susceptibility to mononeuropathy of the median nerve, mild
  • p.Ala1017Thr Multiple submitters Inborn genetic diseases
  • p.Ala1152= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala1241= Multiple submitters Inborn genetic diseases
  • p.Ala413= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala528= Multiple submitters Inborn genetic diseases
  • p.Ala656= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala845= Multiple submitters Charcot-Marie-Tooth disease
  • p.Arg1254= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Arg440= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Asn840= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Asp1060= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Asp437= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Cys181= Multiple submitters Charcot-Marie-Tooth disease
  • p.Cys980= Multiple submitters Inborn genetic diseases
  • p.Gln710= Multiple submitters Inborn genetic diseases
  • p.Glu1059= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Glu428= Multiple submitters Inborn genetic diseases
  • p.Glu443= Multiple submitters Inborn genetic diseases
  • p.Gly1217= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Gly304= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Gly588= Multiple submitters Inborn genetic diseases
  • p.Gly596= Multiple submitters Inborn genetic diseases
  • p.Gly703= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.His649= Multiple submitters Inborn genetic diseases
  • p.His712= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ile777= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Leu1056= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Leu1139= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Leu1257= Multiple submitters Inborn genetic diseases
  • p.Leu146= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Leu229= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Leu598= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Leu613= Multiple submitters Inborn genetic diseases
  • p.Leu653= Multiple submitters Inborn genetic diseases
  • p.Leu822= Multiple submitters Inborn genetic diseases
  • p.Lys1120= Multiple submitters Inborn genetic diseases
  • p.Lys541= Multiple submitters Charcot-Marie-Tooth disease
  • p.Pro630= Multiple submitters Charcot-Marie-Tooth disease
  • p.Ser312= Multiple submitters Inborn genetic diseases
  • p.Ser315= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ser733= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ser795= Multiple submitters Inborn genetic diseases
  • p.Thr1174= Multiple submitters Charcot-Marie-Tooth disease
  • p.Thr263= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Thr277= Multiple submitters Inborn genetic diseases
  • p.Tyr1177= Multiple submitters Charcot-Marie-Tooth disease
  • p.Tyr618= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Tyr906= Multiple submitters Charcot-Marie-Tooth disease
  • p.Val615= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Val88= Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Val973= Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.1001+257del Single submitter
  • c.1001+93del Single submitter
  • c.1002-12G>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.1002-12G>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.1002-20T>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.1002-8C>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.1136-10C>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.1136-5C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.1136-6A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.1177+10G>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.1177+14A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.1177+16G>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.1177+18T>A Single submitter Charcot-Marie-Tooth disease
  • c.1177+8G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.1178-14G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.1178-14G>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.1178-15T>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.1178-18C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.1178-4A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.1178-8C>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.1178-8C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.151+11G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.151+14A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.151+16A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.151+19C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.152-16C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.152-239G>A Single submitter
  • c.152-70G>A Single submitter
  • c.279+13G>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.279+17C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.279+20G>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.279+6_279+19dup Single submitter Charcot-Marie-Tooth disease type 4
  • c.279+7A>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.280-16T>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.280-18A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.280-19C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.2872+11C>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.2872+11C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.2872+13C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.2872+14A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.2872+19G>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.2872+20C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.2873-10T>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.3053+11G>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.3053+19C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.3053+266G>C Single submitter
  • c.3053+9G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.3054-13T>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.3054-173G>T Single submitter
  • c.3054-299G>A Single submitter
  • c.3204+16A>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.3204+17G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.3204+20C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.3204+7C>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.3205-172G>A Single submitter
  • c.3205-20G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.3205-303dup Single submitter
  • c.3205-7C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.3327+16G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.3327+8C>T Single submitter
  • c.3328-12T>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.3328-236T>C Single submitter
  • c.3328-7T>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.3328-9T>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.3478+113C>A Single submitter
  • c.3478+14A>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.3478+17A>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.3478+18T>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.3478+37G>C Single submitter
  • c.3479-17A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.3479-5C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.3479-8A>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.3675+17C>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.3675+210T>A Single submitter
  • c.3675+278T>C Single submitter
  • c.3675+7G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.3676-118CAAA[8] Single submitter
  • c.3676-11C>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.3676-15A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.3676-18C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.3676-290T>A Single submitter
  • c.385+14C>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.385+16A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.385+9C>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.385+9C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.386-10G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.386-12T>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.386-18G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.386-18G>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.52+11dup Single submitter Charcot-Marie-Tooth disease type 4
  • c.52+17G>A Single submitter
  • c.52+18C>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.52+4A>G Single submitter Charcot-Marie-Tooth disease
  • c.529+10G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.529+14del Single submitter Charcot-Marie-Tooth disease type 4
  • c.529+294C>T Single submitter
  • c.529+47C>T Single submitter
  • c.53-149T>C Single submitter
  • c.53-17del Single submitter Charcot-Marie-Tooth disease
  • c.53-17T>C Single submitter
  • c.53-4C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.53-5T>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.530-12C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.530-55C>T Single submitter
  • c.731+14T>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.731+65T>C Single submitter
  • c.732-16A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.732-196A>G Single submitter
  • c.732-19C>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.732-20C>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.732-6T>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.805+170A>C Single submitter
  • c.805+18A>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.805+9G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.806-11A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.806-12T>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.806-229G>T Single submitter
  • c.*10051ACCA[11] Single submitter
  • c.*10051ACCA[16] Single submitter
  • c.*10875T>C Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*11427G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*12189C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*12509T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*12550A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*12637A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*12807G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*13352G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*13492A>G Single submitter
  • c.*13645C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*14188C>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*15489G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*16169G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*16330G>A Single submitter
  • c.*16378C>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*16395G>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16947C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*1765G>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*18476T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*19002A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*2081T>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*20967G>A Single submitter
  • c.*21474AAAC[2] Single submitter
  • c.*21728T>C Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*22035G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*22357T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*2269G>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*2341A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*2899_*2910del Single submitter
  • c.*2952_*2955dup Single submitter
  • c.*2987C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*4052T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*4279C>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*4446G>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*4713G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*5020C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*6302T>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*6350G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*6820T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*6993T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*711A>C Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*7939C>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*7948G>A Single submitter
  • c.*797A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*8277G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*837G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*8533A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*9361C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*9953C>T Single submitter Charcot-Marie-Tooth disease type 4C
  • p.Ala1043= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1044= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1050= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1104= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1153= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1168= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1185= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1227= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala1240= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala191= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala234= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala351= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala468Asn Single submitter
  • p.Ala480= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala547= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala577= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala600= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala609= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala633= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala635= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala668= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala673= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala751= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala758= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala803= Single submitter
  • p.Ala809= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala862= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala866= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala878= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Ala989= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg1012= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg1099= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg1099Cys Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg1256= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg1269= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg336= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg377= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg583= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg61= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg648= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg77= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg771= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg854= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg9= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg952= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Arg997= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asn717= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asp161= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asp162= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asp285= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asp343= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asp449= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Asp564= Single submitter Charcot-Marie-Tooth disease type 4
  • p.Cys1066= Single submitter Charcot-Marie-Tooth disease type 4

Uncertain significance 870

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

  • c.1002-5T>A Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.279+4A>G Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.280-3T>C Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.3478+4G>A Multiple submitters Inborn genetic diseases
  • c.3676-1G>A Multiple submitters Charcot-Marie-Tooth disease type 4
  • c.385+3A>G Multiple submitters Charcot-Marie-Tooth disease type 4C
  • p.Ala1050Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1090Gly Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ala1145Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1153Ser Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ala1168Val Multiple submitters Inborn genetic diseases
  • p.Ala1206Thr Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Ala1230Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ala1237Val Multiple submitters Charcot-Marie-Tooth disease type 4C ⚠
  • p.Ala34Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Ala34Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ala464Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala513Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala758Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Ala783Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ala803Thr Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Ala845Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala891Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala979Ser Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg1002Ser Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg1032Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1032His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1052Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1127Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1171His Multiple submitters susceptibility to mononeuropathy of the median nerve, mild ⚠
  • p.Arg11Gln Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg15Trp Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg272His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg336Gly Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg369Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg377Trp Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg440Cys Multiple submitters Tip-toe gait ⚠
  • p.Arg540Lys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg61Cys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg634Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg641Leu Multiple submitters susceptibility to mononeuropathy of the median nerve, mild ⚠
  • p.Arg64Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg658His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg75Gln Multiple submitters susceptibility to mononeuropathy of the median nerve, mild ⚠
  • p.Arg75Trp Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg771Gly Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg77Gln Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Arg851Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg954Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1096Asp Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Asn67Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1246Asn Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Asp25Glu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Asp390Tyr Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Asp424Glu Multiple submitters Charcot-Marie-Tooth disease type 4C ⚠
  • p.Asp445Glu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Asp448His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Asp449Glu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Asp614Asn Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Asp614Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp752Glu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Cys1026Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Cys1273Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Gln395Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Gln418His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln418Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Gln622Pro Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Gln695Glu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Gln811His Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Gln867Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Glu1000Ala Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Glu1064Lys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Glu1125Gly Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Glu1140Lys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Glu194Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu212Gly Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Glu216Lys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Glu552Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu72Lys Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Glu769Lys Multiple submitters Charcot-Marie-Tooth disease type 4C ⚠
  • p.Glu828Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu87Gln Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Glu944Gly Multiple submitters ⚠
  • p.Gly1111Val Multiple submitters Charcot-Marie-Tooth disease
  • p.Gly1283Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Gly1283Cys Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Gly278Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly304Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Gly319Val Multiple submitters susceptibility to mononeuropathy of the median nerve, mild ⚠
  • p.Gly353Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly380Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Gly3Asp Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Gly415Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly588Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly627Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly703Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Gly836Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Gly843Glu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Gly950Val Multiple submitters Charcot-Marie-Tooth disease type 4C ⚠
  • p.His1103Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His1228Tyr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.His611Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.His953Gln Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ile1033Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ile1035Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ile1071Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1253Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ile298Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ile302Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ile384Met Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ile762Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Leu1238Met Multiple submitters Inborn genetic diseases ⚠
  • p.Leu139del Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Leu146Phe Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Leu150Phe Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Leu172Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu200Arg Multiple submitters Inborn genetic diseases
  • p.Leu447Pro Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Leu676Ser Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Leu679Arg Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Leu759Met Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Leu780Pro Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Leu784Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu800Phe Multiple submitters susceptibility to mononeuropathy of the median nerve, mild ⚠
  • p.Leu860Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu940Phe Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Leu95Phe Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Lys1204Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys1204Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys193Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys19Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Met454Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Met704Leu Multiple submitters ⚠
  • p.Met917Val Multiple submitters Inborn genetic diseases ⚠
  • p.Phe179Val Multiple submitters Inborn genetic diseases ⚠
  • p.Phe551Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Phe796Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1198Leu Multiple submitters Inborn genetic diseases
  • p.Pro1264Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro189Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Pro281Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Pro303His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Pro404Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Pro450Leu Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Pro630Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro686Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro773Ser Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Pro975Ala Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ser1138Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1156Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser207Leu Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Ser215Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser221Pro Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Ser265Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ser29Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser30Asn Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ser354Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ser436Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Ser490Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Ser831Asn Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Ser958Asn Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Ser965Phe Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Thr112Ile Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Thr366Ala Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Tyr1176Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr479Cys Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Tyr487Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr839Cys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Val1212Met Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Val151Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val187Met Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Val28Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Val402Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val626Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
  • p.Val672Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val714Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val852Met Multiple submitters Charcot-Marie-Tooth disease ⚠
  • c.1001+5G>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.1135+3G>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.1178-11T>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.1178-3C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.152-8T>A Single submitter Charcot-Marie-Tooth disease type 4
  • c.279+5G>A Single submitter
  • c.280-3T>G Single submitter
  • c.2873-3C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.3204+5G>A Single submitter Charcot-Marie-Tooth disease
  • c.3204+6C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.3327+6T>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.3478+5G>A Single submitter Inborn genetic diseases
  • c.3675+5G>C Single submitter Charcot-Marie-Tooth disease type 4
  • c.529+7G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.53-3C>T Single submitter Charcot-Marie-Tooth disease type 4
  • c.53-5_53-3del Single submitter Charcot-Marie-Tooth disease type 4
  • c.731+4A>G Single submitter Charcot-Marie-Tooth disease type 4
  • c.732-14_732-7delinsCA Single submitter
  • c.732-15T>A Single submitter
  • c.805+3A>C Single submitter
  • c.806-3C>T Single submitter
  • c.*10006A>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10010A>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10014T>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*10018A>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10022A>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10060C>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10064C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*10068C>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*1006C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*10079A>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10083A>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10103A>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10105C>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10111T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*10113T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*10132A>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10177T>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10230A>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*10395A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*10505A>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10546C>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10560T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*10573T>C Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10672A>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*10756G>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10765A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*1079T>C Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*10802A>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*10984G>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*11054G>C Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*11055T>C Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*11160C>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*11299C>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*11506C>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*11542G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*11593G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*11621G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*11680C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*11803A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*11934A>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*12009T>C Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*12010C>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*12111C>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*12126C>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*12146C>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*12256G>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*12356A>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*12442A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*1254T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*12653C>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*12710G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*12752T>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*13037G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*1310G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*13292G>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*13293T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*13418G>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*13923T>C Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*14182A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*1421A>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*14315A>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*14397A>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*14429T>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*14450A>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*14480A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*14628C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*14781C>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*14985A>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*15049A>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*15062G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*15125C>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*15339G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*15383C>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*15385A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*1545A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*15483T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*15680T>C Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*15823T>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*15824G>A Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*15877G>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*15967C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16015G>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16056C>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*1616C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16174A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16261C>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*16293C>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16402G>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16507C>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*16509A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16557T>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16562G>T Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*16590A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16711C>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*16720T>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16855A>G Single submitter Charcot-Marie-Tooth disease type 4C
  • c.*16902G>A Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16905T>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16928A>G Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*16953T>C Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*17036C>T Single submitter susceptibility to mononeuropathy of the median nerve, mild
  • c.*17049C>G Single submitter susceptibility to mononeuropathy of the median nerve, mild