MTMR2 — 650 ClinVar variants

All ClinVar germline MTMR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 206 flagged for review →

33 Pathogenic · 5 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 20 Conflicting · 48 Benign · 11 Benign/Likely benign · 228 Likely benign · 279 Uncertain significance

Full MTMR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 206

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

Predictors agree, ClinVar conflicts 6

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

MTMR2 p.Ala183Ser Conflicting Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Arg621Gln Conflicting Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Gly103Glu Conflicting Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ile369Thr Conflicting Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ile581Val Conflicting Single submitter
Charcot-Marie-Tooth disease
MTMR2 p.Pro19Leu Conflicting Single submitter
Charcot-Marie-Tooth disease

Predictors lean, ClinVar uncertain 160

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 160

MTMR2 p.Ala397Gly Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Ala633Thr Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Arg119Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Arg233Gln Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Arg264Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Arg266His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Arg440Gln Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Arg62Lys Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Asp157Ala Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Asp210Gly Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Asp468His Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Asp55Asn Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Asp90Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Gln615Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Glu136Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Glu253Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Glu298Asp Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Glu574Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Glu66Gly Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Glu8Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ile306Val Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Ile484Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ile508Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ile544Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Leu270Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Leu575Val Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Lys367Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Lys451Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Met117Thr Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Phe504Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Pro185Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Pro191Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Pro202Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Pro241Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser12Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser26Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser27Thr Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Ser455Arg Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Ser47Pro Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser546Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser5Trp Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Ser619Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Thr623Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Thr637Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Val135Ile Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Val22Met Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Val447Ile Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Ala141Val Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Ala305Val Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Ala71Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4B1
MTMR2 p.Arg102Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Arg162Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Arg170Gln Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Arg266Cys Uncertain significance Single submitter
MTMR2 p.Arg283Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Arg295Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Arg322Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Arg443Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Arg571His Uncertain significance Single submitter
MTMR2 p.Arg586Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Arg604Gln Uncertain significance Single submitter
MTMR2 p.Arg616Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Arg621Leu Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Arg628Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Asn109Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Asn160Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Asn178Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Asn373Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Asn501Ser Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Asn561Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Asn83Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Asp210Glu Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Asp23Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Asp320Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Asp48His Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Gln426Leu Uncertain significance Single submitter
MTMR2 p.Glu298Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Glu450Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Glu617Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Glu627Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Glu8Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Glu8Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Gly518Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.His32Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4B1
MTMR2 p.His32Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.His471Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.His511Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ile132Val Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Ile175Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ile227Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ile267Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ile318Val Uncertain significance Single submitter
MTMR2 p.Ile395Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ile402Thr Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Ile618Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ile94Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Leu105Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Leu10Val Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Leu161Val Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Leu213Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Leu25Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Leu303Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Leu366Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Leu505Pro Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Leu521His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Leu548Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Leu70Val Uncertain significance Single submitter
MTMR2 p.Lys3Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Lys609Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Met117Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Met432Ile Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Met490Val Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Met87Ile Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Phe319Ser Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Phe480Val Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Phe498Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4B1
MTMR2 p.Phe551Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Phe97Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4B1
MTMR2 p.Pro20Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Pro251Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Pro592Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Pro76Ala Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Pro77Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser12Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser271Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser296Asn Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Ser31Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser324Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser4Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser4Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser514Gly Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Ser53Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser546Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser626Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Thr106Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4B1
MTMR2 p.Thr153Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Thr228Arg Uncertain significance Single submitter
MTMR2 p.Thr30Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Thr52Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Thr537Ile Uncertain significance Single submitter
MTMR2 p.Thr552Ala Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Trp453Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4B1
MTMR2 p.Trp488Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Tyr240Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Tyr565Phe Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Val101Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Val135Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Val154Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Val22Gly Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Val246Glu Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 40

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

MTMR2 p.Ala497Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Arg18Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Asn545Ser Benign/Likely benign Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ile281Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
MTMR2 p.Leu78Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Pro554Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MTMR2 p.Ser277Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser49Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Tyr556Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Val449Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ala242Val Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Arg295Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Arg586Trp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Arg62Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Asn310Ser Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Asp550Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Cys486Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Glu118Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Glu298Ala Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Glu347Gln Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Glu407Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Glu407Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Gly169Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Gly409Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4B1
MTMR2 p.His165Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ile250Thr Uncertain significance Single submitter
MTMR2 p.Ile392Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ile94Thr Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Leu380Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Lys588Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Met434Thr Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Phe317Cys Uncertain significance Single submitter
Inborn genetic diseases
MTMR2 p.Ser21Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser21Ile Uncertain significance Single submitter
MTMR2 p.Ser455Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Ser619Pro Conflicting Single submitter
Charcot-Marie-Tooth disease
MTMR2 p.Ser6Cys Conflicting Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Tyr209Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Tyr438His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
MTMR2 p.Tyr93His Uncertain significance Single submitter

All MTMR2 variants

Pathogenic 33

p.Arg162Ter Multiple submitters Charcot-Marie-Tooth disease type 4B1
p.Arg364Ter Multiple submitters Charcot-Marie-Tooth disease type 4
p.Gln590Ter Multiple submitters Charcot-Marie-Tooth disease type 4B1
p.Glu531Ter Multiple submitters Inborn genetic diseases
p.Ser514fs Multiple submitters Charcot-Marie-Tooth disease type 4B1
p.Val154_Cys155insTer Multiple submitters Charcot-Marie-Tooth disease type 4
c.1479+1G>A Single submitter Charcot-Marie-Tooth disease type 4B1
c.1593+1G>A Single submitter Charcot-Marie-Tooth disease type 4B1
c.357+2T>C Single submitter
p.Ala194fs Single submitter Charcot-Marie-Tooth disease type 4
p.Arg144Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Arg295Ter Single submitter Charcot-Marie-Tooth disease type 4B1
p.Arg440Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Arg492Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Asn310fs Single submitter Charcot-Marie-Tooth disease type 4
p.Asn345fs Single submitter Charcot-Marie-Tooth disease type 4
p.Asp485fs Single submitter Charcot-Marie-Tooth disease type 4
p.Gln13Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gln278Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gln312Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gln426Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Glu152fs Single submitter Charcot-Marie-Tooth disease type 4
p.Glu276Ter Single submitter Charcot-Marie-Tooth disease type 4B1
p.Lys367fs Single submitter Charcot-Marie-Tooth disease type 4B1
p.Phe317fs Single submitter Charcot-Marie-Tooth disease type 4
p.Phe498fs Single submitter Charcot-Marie-Tooth disease type 4B1
p.Ser292fs Single submitter Charcot-Marie-Tooth disease type 4
p.Tyr565fs Single submitter Charcot-Marie-Tooth disease type 4
p.Val414fs Single submitter Charcot-Marie-Tooth disease type 4
p.Val487fs Single submitter Charcot-Marie-Tooth disease type 4
p.Gln482Ter No assertion criteria Charcot-Marie-Tooth disease type 4B1
p.Trp388Ter No assertion criteria Charcot-Marie-Tooth disease type 4B1
p.Tyr579fs No assertion criteria Charcot-Marie-Tooth disease type 4B1

Pathogenic/Likely pathogenic 5

p.Ala629fs Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg102Ter Multiple submitters Charcot-Marie-Tooth disease type 4B1
p.Glu574Ter Multiple submitters Charcot-Marie-Tooth disease type 4
p.Lys256fs Multiple submitters Charcot-Marie-Tooth disease type 4B1
p.Ser455fs Multiple submitters Charcot-Marie-Tooth disease type 4

Likely pathogenic 26

c.804+2T>G Multiple submitters Charcot-Marie-Tooth disease type 4
c.1479+1_1479+2del Single submitter Charcot-Marie-Tooth disease type 4
c.187-2A>G Single submitter Charcot-Marie-Tooth disease type 4B1
c.357+1G>A Single submitter Charcot-Marie-Tooth disease type 4B1
c.358-2_358-1insCTGGCGCTGTACGAGGAACTCTGACTGTCACGAATTATAGGTTATATTTCAAAAGCATGGAACG Single submitter Charcot-Marie-Tooth disease type 4B1
c.804+1G>C Single submitter Charcot-Marie-Tooth disease type 4
c.805-1_805insAGGCCGTATCCCA Single submitter
c.805-2_805-1del Single submitter Charcot-Marie-Tooth disease type 4B1
c.993+1G>A Single submitter Charcot-Marie-Tooth disease type 4
p.Arg257fs Single submitter Charcot-Marie-Tooth disease type 4B1
p.Arg443Ter Single submitter Charcot-Marie-Tooth disease type 4B1
p.Arg582fs Single submitter Inborn genetic diseases
p.Cys155Arg Single submitter Charcot-Marie-Tooth disease type 4B1
p.His562fs Single submitter MTMR2-related disorders
p.Leu396Pro Single submitter Charcot-Marie-Tooth disease type 4
p.Leu509fs Single submitter Charcot-Marie-Tooth disease type 4B1
p.Ser362Ter Single submitter Charcot-Marie-Tooth disease type 4B1
p.Thr108Met Single submitter Charcot-Marie-Tooth disease type 4B1
p.Thr411fs Single submitter Charcot-Marie-Tooth disease type 4B1
p.Thr623fs Single submitter Charcot-Marie-Tooth disease type 4B1
p.Trp583Ter Single submitter Charcot-Marie-Tooth disease
p.Tyr149_Glu152delinsTer Single submitter Charcot-Marie-Tooth disease type 4B1
p.Tyr240Ter Single submitter MTMR2-related disorders
p.Tyr337Ter Single submitter
c.262+5G>T No assertion criteria Charcot-Marie-Tooth disease type 4B1
p.Leu212_Leu213insTer No assertion criteria Charcot-Marie-Tooth disease type 4B1

Conflicting classifications of pathogenicity 20

c.1386+8A>C Single submitter Charcot-Marie-Tooth disease type 4
c.1480-4_1480-3insA Single submitter Inborn genetic diseases
c.1770+3A>G Single submitter Charcot-Marie-Tooth disease
c.1770+7_1770+19delinsC Single submitter Charcot-Marie-Tooth disease
c.655-8A>G Single submitter Charcot-Marie-Tooth disease type 4
p.Ala183Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg604Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Arg621Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln615Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gln634Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Glu446Lys Single submitter Inborn genetic diseases
p.Gly103Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ile369Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ile581Val Single submitter Charcot-Marie-Tooth disease ⚠
p.Leu462= Single submitter Inborn genetic diseases
p.Phe517= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro19Leu Single submitter Charcot-Marie-Tooth disease ⚠
p.Ser619Pro Single submitter Charcot-Marie-Tooth disease ⚠
p.Ser626Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Ser6Cys Single submitter Charcot-Marie-Tooth disease type 4 ⚠

Benign 48

c.1593+297C>T Multiple submitters
c.1594-42C>T Multiple submitters
c.1770+129C>T Multiple submitters
c.1770+59T>G Multiple submitters
c.186+19A>T Multiple submitters Charcot-Marie-Tooth disease
c.186+575A>G Multiple submitters
c.262+136T>C Multiple submitters
c.263-59G>T Multiple submitters
c.469-76T>C Multiple submitters
c.655-82T>C Multiple submitters
c.80+165G>A Multiple submitters
c.*1066T>C Multiple submitters Charcot-Marie-Tooth disease type 4B1
c.*1396C>T Multiple submitters Charcot-Marie-Tooth disease type 4B1
c.*1419G>A Multiple submitters Charcot-Marie-Tooth disease type 4B1
c.*1444C>G Multiple submitters Charcot-Marie-Tooth disease type 4B1
c.*1568C>T Multiple submitters Charcot-Marie-Tooth disease type 4B1
c.*1934T>C Multiple submitters Charcot-Marie-Tooth disease type 4B1
c.*2014T>G Multiple submitters Charcot-Marie-Tooth disease type 4B1
c.*2406C>T Multiple submitters Charcot-Marie-Tooth disease type 4B1
c.*549G>A Multiple submitters Charcot-Marie-Tooth disease type 4B1
p.Arg586= Multiple submitters Charcot-Marie-Tooth disease
p.Glu502Gln Multiple submitters Charcot-Marie-Tooth disease
p.Lys3Thr Multiple submitters Charcot-Marie-Tooth disease
p.Thr377= Multiple submitters Charcot-Marie-Tooth disease
p.Thr411= Multiple submitters Charcot-Marie-Tooth disease
c.1180-271T>A Single submitter
c.1386+188A>G Single submitter
c.1386+192G>C Single submitter
c.1387-150C>G Single submitter
c.1771-142G>T Single submitter
c.186+155A>G Single submitter
c.186+5624TTTTA[6] Single submitter
c.186+724dup Single submitter
c.187-17dup Single submitter Charcot-Marie-Tooth disease type 4
c.187-235dup Single submitter
c.263-164A>G Single submitter
c.357+45_357+48del Single submitter
c.468+325T>C Single submitter
c.570+344G>A Single submitter
c.654+230C>T Single submitter
c.655-285dup Single submitter
c.81-298G>A Single submitter
c.993+9G>C Single submitter Charcot-Marie-Tooth disease type 4
c.994-5dup Single submitter Charcot-Marie-Tooth disease type 4
c.*1952G>A Single submitter Charcot-Marie-Tooth disease type 4B1
c.*987T>C Single submitter Charcot-Marie-Tooth disease type 4B1
p.Leu521= Single submitter Charcot-Marie-Tooth disease type 4
p.Lys3= No assertion criteria

Benign/Likely benign 11

c.1770+7_1770+12del Multiple submitters Charcot-Marie-Tooth disease type 4
c.570+11T>C Multiple submitters Charcot-Marie-Tooth disease
c.80+13C>T Multiple submitters Charcot-Marie-Tooth disease
c.*85A>C Multiple submitters Charcot-Marie-Tooth disease type 4B1
p.Ala100Thr Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ala602Gly Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg62del Multiple submitters Charcot-Marie-Tooth disease type 4
p.Asn545Ser Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Pro80= Multiple submitters Inborn genetic diseases
p.Thr496= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Val44Ile Multiple submitters Inborn genetic diseases

Likely benign 228

c.1480-20T>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.1594-20C>A Multiple submitters Charcot-Marie-Tooth disease type 4B1
c.1770+18T>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.186+9A>G Multiple submitters Charcot-Marie-Tooth disease
c.187-59G>C Multiple submitters
c.263-9C>A Multiple submitters Charcot-Marie-Tooth disease type 4
c.358-60G>C Multiple submitters
c.654+77C>T Multiple submitters
c.655-13A>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.655-19T>C Multiple submitters Charcot-Marie-Tooth disease
c.80+7A>G Multiple submitters Charcot-Marie-Tooth disease type 4
c.81-4G>C Multiple submitters Inborn genetic diseases
c.994-21A>G Multiple submitters
p.Ala71= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg18= Multiple submitters Inborn genetic diseases
p.Arg586Gln Multiple submitters Charcot-Marie-Tooth disease type 4
p.Asp320= Multiple submitters Inborn genetic diseases
p.Gln482= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Gly99= Multiple submitters Charcot-Marie-Tooth disease
p.Leu208= Multiple submitters Inborn genetic diseases
p.Leu25= Multiple submitters Inborn genetic diseases
p.Leu433= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Leu435= Multiple submitters Inborn genetic diseases
p.Ser148= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ser174= Multiple submitters Inborn genetic diseases
p.Ser558= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Tyr149= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Tyr565= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Tyr93= Multiple submitters Charcot-Marie-Tooth disease type 4
c.1179+16T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1179+7G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1180-11C>G Single submitter Charcot-Marie-Tooth disease type 4
c.1180-11C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1180-17A>T Single submitter Charcot-Marie-Tooth disease type 4
c.1180-20T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1180-4C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1180-9G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1386+13C>A Single submitter Charcot-Marie-Tooth disease type 4
c.1386+13C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1386+14C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1386+151dup Single submitter
c.1386+17G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1387-13_1387-12del Single submitter Charcot-Marie-Tooth disease type 4
c.1387-19T>G Single submitter Charcot-Marie-Tooth disease
c.1387-7G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1387-8T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1479+12G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1479+13G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1479+17A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1479+19_1479+23del Single submitter Charcot-Marie-Tooth disease type 4
c.1480-18G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1480-220G>A Single submitter
c.1480-4G>C Single submitter Charcot-Marie-Tooth disease type 4
c.1593+9T>G Single submitter Charcot-Marie-Tooth disease type 4
c.1594-17A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1594-4A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1770+12A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1770+15A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1770+15del Single submitter Charcot-Marie-Tooth disease type 4
c.1770+20C>A Single submitter Charcot-Marie-Tooth disease type 4
c.1770+20del Single submitter Charcot-Marie-Tooth disease type 4
c.1770+7G>C Single submitter Charcot-Marie-Tooth disease type 4
c.1770+9_1770+20del Single submitter Charcot-Marie-Tooth disease type 4
c.1771-17_1771-16del Single submitter Charcot-Marie-Tooth disease type 4
c.186+16T>C Single submitter Charcot-Marie-Tooth disease type 4
c.186+5591A>G Single submitter
c.186+5624TTTTA[5] Single submitter
c.186+733del Single submitter
c.187-16G>A Single submitter Charcot-Marie-Tooth disease type 4
c.187-16G>T Single submitter Charcot-Marie-Tooth disease type 4
c.187-5C>G Single submitter Charcot-Marie-Tooth disease type 4
c.187-6C>T Single submitter Charcot-Marie-Tooth disease type 4
c.262+11G>A Single submitter Charcot-Marie-Tooth disease type 4
c.262+11G>T Single submitter Charcot-Marie-Tooth disease type 4
c.262+198del Single submitter
c.263-14T>C Single submitter Charcot-Marie-Tooth disease type 4
c.263-20_263-19del Single submitter Charcot-Marie-Tooth disease type 4
c.357+10A>G Single submitter
c.357+16G>C Single submitter Charcot-Marie-Tooth disease type 4
c.358-10C>T Single submitter Charcot-Marie-Tooth disease type 4
c.358-14_358-12del Single submitter Charcot-Marie-Tooth disease type 4
c.358-15T>C Single submitter Charcot-Marie-Tooth disease type 4
c.358-39_358-16del Single submitter Charcot-Marie-Tooth disease
c.358-42_358-18del Single submitter Charcot-Marie-Tooth disease
c.358-8T>C Single submitter Charcot-Marie-Tooth disease type 4
c.358-9C>T Single submitter Charcot-Marie-Tooth disease type 4
c.468+12_468+16del Single submitter Charcot-Marie-Tooth disease type 4
c.468+17G>A Single submitter Charcot-Marie-Tooth disease type 4
c.468+7G>T Single submitter Charcot-Marie-Tooth disease type 4
c.469-147C>T Single submitter
c.469-18T>C Single submitter Charcot-Marie-Tooth disease type 4
c.469-20G>T Single submitter Charcot-Marie-Tooth disease type 4
c.469-9C>A Single submitter Charcot-Marie-Tooth disease type 4
c.571-12_571-11del Single submitter Charcot-Marie-Tooth disease type 4
c.571-19A>G Single submitter Charcot-Marie-Tooth disease type 4
c.571-8_571-7insG Single submitter Charcot-Marie-Tooth disease type 4
c.654+11T>C Single submitter Charcot-Marie-Tooth disease type 4
c.654+12C>A Single submitter Charcot-Marie-Tooth disease type 4
c.654+13T>C Single submitter Charcot-Marie-Tooth disease type 4
c.654+20del Single submitter Charcot-Marie-Tooth disease type 4
c.654+5G>A Single submitter Charcot-Marie-Tooth disease
c.655-3_655-2insTTGAATACAAAGAAGTATTCCCTGAAAATGGGTGGAAGCTATATGACCCTCTTTTAGAGTATAGAAGGC Single submitter
c.655-4G>C Single submitter Charcot-Marie-Tooth disease type 4
c.655-4G>T Single submitter Charcot-Marie-Tooth disease type 4
c.655-7C>T Single submitter Charcot-Marie-Tooth disease type 4
c.655-8A>C Single submitter Charcot-Marie-Tooth disease type 4
c.80+14_80+43del Single submitter Charcot-Marie-Tooth disease type 4
c.80+14C>T Single submitter Charcot-Marie-Tooth disease type 4
c.80+17G>T Single submitter Charcot-Marie-Tooth disease type 4
c.80+19G>T Single submitter Charcot-Marie-Tooth disease type 4
c.80+8G>A Single submitter Charcot-Marie-Tooth disease type 4
c.80+9G>A Single submitter Charcot-Marie-Tooth disease type 4
c.804+11A>G Single submitter Charcot-Marie-Tooth disease type 4
c.804+16G>A Single submitter Charcot-Marie-Tooth disease type 4
c.804+301T>G Single submitter
c.804+7A>G Single submitter Charcot-Marie-Tooth disease type 4
c.804+8G>T Single submitter Charcot-Marie-Tooth disease type 4
c.805-137T>C Single submitter
c.805-13T>A Single submitter Charcot-Marie-Tooth disease type 4
c.805-140dup Single submitter
c.805-15T>A Single submitter Charcot-Marie-Tooth disease type 4
c.805-16T>A Single submitter Charcot-Marie-Tooth disease type 4
c.805-19C>G Single submitter Charcot-Marie-Tooth disease type 4
c.805-4T>G Single submitter Charcot-Marie-Tooth disease type 4
c.805-6A>C Single submitter Charcot-Marie-Tooth disease type 4
c.805-6A>G Single submitter Charcot-Marie-Tooth disease type 4
c.805-7C>G Single submitter Charcot-Marie-Tooth disease type 4
c.805-9C>G Single submitter Charcot-Marie-Tooth disease type 4
c.81-11G>A Single submitter Charcot-Marie-Tooth disease type 4
c.81-12T>C Single submitter Charcot-Marie-Tooth disease type 4
c.81-13T>C Single submitter Charcot-Marie-Tooth disease type 4
c.81-16C>T Single submitter Charcot-Marie-Tooth disease type 4
c.81-17A>G Single submitter Charcot-Marie-Tooth disease type 4
c.81-7T>G Single submitter Charcot-Marie-Tooth disease type 4
c.993+17G>A Single submitter Charcot-Marie-Tooth disease type 4
c.993+20A>G Single submitter Charcot-Marie-Tooth disease type 4
c.993+20A>T Single submitter Charcot-Marie-Tooth disease type 4
c.994-10T>C Single submitter Charcot-Marie-Tooth disease type 4
c.994-15T>C Single submitter Charcot-Marie-Tooth disease type 4
c.994-19G>A Single submitter Charcot-Marie-Tooth disease type 4
c.-16C>T Single submitter Charcot-Marie-Tooth disease
c.-35G>C Single submitter
c.*1089C>G Single submitter Charcot-Marie-Tooth disease type 4B1
c.*163G>A Single submitter
c.*1684A>C Single submitter Charcot-Marie-Tooth disease type 4B1
c.*2187A>G Single submitter Charcot-Marie-Tooth disease type 4B1
c.*837G>A Single submitter Charcot-Marie-Tooth disease type 4B1
p.Ala127= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala15= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala16= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala164= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala327= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg217= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg443= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg459= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg463= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg604= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg628= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn178= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn189= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn470= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn620= Single submitter
p.Asp210= Single submitter Charcot-Marie-Tooth disease type 4
p.Asp475= Single submitter Charcot-Marie-Tooth disease type 4
p.Cys486= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln278= Single submitter
p.Gln547= Single submitter Charcot-Marie-Tooth disease type 4
p.Glu34= Single submitter Charcot-Marie-Tooth disease type 4
p.Glu375= Single submitter Charcot-Marie-Tooth disease type 4
p.Glu390= Single submitter Charcot-Marie-Tooth disease type 4
p.Glu407= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly11= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly150= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly169= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly335= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly457= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly465= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly578= Single submitter Charcot-Marie-Tooth disease type 4
p.His357= Single submitter Charcot-Marie-Tooth disease type 4
p.His38= Single submitter Charcot-Marie-Tooth disease type 4
p.His416= Single submitter Charcot-Marie-Tooth disease type 4
p.His466= Single submitter
p.Ile132= Single submitter Charcot-Marie-Tooth disease type 4
p.Ile138= Single submitter Charcot-Marie-Tooth disease type 4
p.Ile281= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu10= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu161= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu270= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu303= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu427= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu512= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu533= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu540= Single submitter Charcot-Marie-Tooth disease type 4
p.Lys333= Single submitter Charcot-Marie-Tooth disease type 4
p.Lys451= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro14= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro20= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro275= Single submitter
p.Pro478= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro585= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro59= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro592= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro632= Single submitter Charcot-Marie-Tooth disease type 4
p.Ser24= Single submitter
p.Ser309= Single submitter Charcot-Marie-Tooth disease type 4
p.Ser381= Single submitter Charcot-Marie-Tooth disease type 4
p.Ser412= Single submitter Charcot-Marie-Tooth disease type 4
p.Ser47= Single submitter Charcot-Marie-Tooth disease type 4
p.Ser477= Single submitter Charcot-Marie-Tooth disease type 4
p.Ser569= Single submitter Charcot-Marie-Tooth disease type 4
p.Ser6= Single submitter Charcot-Marie-Tooth disease type 4
p.Thr228= Single submitter Charcot-Marie-Tooth disease
p.Thr280= Single submitter Charcot-Marie-Tooth disease type 4
p.Thr641= Single submitter Charcot-Marie-Tooth disease type 4
p.Tyr110= Single submitter Charcot-Marie-Tooth disease type 4
p.Tyr113= Single submitter Charcot-Marie-Tooth disease type 4
p.Tyr182= Single submitter Charcot-Marie-Tooth disease type 4
p.Tyr215= Single submitter Charcot-Marie-Tooth disease type 4
p.Tyr343= Single submitter Charcot-Marie-Tooth disease type 4
p.Tyr543= Single submitter Charcot-Marie-Tooth disease type 4
p.Val131= Single submitter Charcot-Marie-Tooth disease type 4
p.Val200= Single submitter Charcot-Marie-Tooth disease type 4
p.Val328= Single submitter Charcot-Marie-Tooth disease type 4
p.Val406= Single submitter
p.Val413= Single submitter Charcot-Marie-Tooth disease type 4
p.Val487= Single submitter Charcot-Marie-Tooth disease type 4
p.Val639= Single submitter Charcot-Marie-Tooth disease type 4
p.Val643= Single submitter

Uncertain significance 279

c.262+4C>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.-222G>C Multiple submitters Charcot-Marie-Tooth disease type 4B1
c.*212A>C Multiple submitters Charcot-Marie-Tooth disease type 4B1
p.Ala397Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala497Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ala633Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg119Gln Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg119Gly Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg119Trp Multiple submitters Inborn genetic diseases
p.Arg18Trp Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg233Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg264Lys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg266His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg364Gln Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg440Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg621Ter Multiple submitters Inborn genetic diseases
p.Arg62Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp157Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp210Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp468His Multiple submitters Inborn genetic diseases ⚠
p.Asp55Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp90Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Gln615Glu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Glu136Asp Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Glu253Asp Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Glu298Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu574Gly Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Glu66Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu75Gln Multiple submitters Inborn genetic diseases
p.Glu8Lys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ile281Val Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Ile306Val Multiple submitters Inborn genetic diseases ⚠
p.Ile316Phe Multiple submitters Inborn genetic diseases
p.Ile484Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ile508Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ile544Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Leu270Phe Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Leu575Val Multiple submitters Inborn genetic diseases ⚠
p.Leu78Met Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Lys367Asn Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Lys451Glu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Met117Thr Multiple submitters Inborn genetic diseases ⚠
p.Phe504Ser Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Pro185Ser Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Pro191Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Pro202Ala Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Pro241Ser Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Pro554Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser12Phe Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser26Phe Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser277Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser27Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser455Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser47Pro Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser49Cys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser546Asn Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser5Trp Multiple submitters Inborn genetic diseases ⚠
p.Ser619Cys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Thr623Ala Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Thr637Ile Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Tyr556Cys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Val135Ile Multiple submitters Inborn genetic diseases ⚠
p.Val22Met Multiple submitters Inborn genetic diseases ⚠
p.Val447Ile Multiple submitters Inborn genetic diseases ⚠
p.Val449Met Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Val639fs Multiple submitters Inborn genetic diseases
c.1179+3G>A Single submitter Inborn genetic diseases
c.1179+4G>T Single submitter Inborn genetic diseases
c.1386+5G>A Single submitter Charcot-Marie-Tooth disease type 4B1
c.1387-3C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1594-9T>G Single submitter Charcot-Marie-Tooth disease type 4
c.1770+3A>T Single submitter Charcot-Marie-Tooth disease type 4
c.1770+4_1770+5insCACA Single submitter Charcot-Marie-Tooth disease type 4
c.1770+4T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1770+6del Single submitter Charcot-Marie-Tooth disease type 4
c.186+19_186+20delinsTA Single submitter Charcot-Marie-Tooth disease type 4
c.262+5G>A Single submitter Charcot-Marie-Tooth disease type 4
c.263-3C>T Single submitter Charcot-Marie-Tooth disease type 4
c.357+4A>C Single submitter Charcot-Marie-Tooth disease type 4
c.468+6T>C Single submitter Inborn genetic diseases
c.469-3T>C Single submitter Charcot-Marie-Tooth disease type 4
c.570+6A>G Single submitter Inborn genetic diseases
c.80+6C>T Single submitter Charcot-Marie-Tooth disease type 4
c.804+6T>G Single submitter Inborn genetic diseases
c.-15T>C Single submitter Charcot-Marie-Tooth disease
c.-81G>A Single submitter Charcot-Marie-Tooth disease type 4B1
c.-82C>T Single submitter Charcot-Marie-Tooth disease type 4B1
c.-89C>G Single submitter Charcot-Marie-Tooth disease type 4B1
c.*1036C>T Single submitter Charcot-Marie-Tooth disease type 4B1
c.*1150C>T Single submitter Charcot-Marie-Tooth disease type 4B1
c.*1249G>A Single submitter Charcot-Marie-Tooth disease type 4B1
c.*1271A>G Single submitter Charcot-Marie-Tooth disease type 4B1
c.*1339T>G Single submitter Charcot-Marie-Tooth disease type 4B1
c.*133C>G Single submitter Charcot-Marie-Tooth disease type 4B1
c.*1425A>G Single submitter Charcot-Marie-Tooth disease type 4B1
c.*1656T>G Single submitter Charcot-Marie-Tooth disease type 4B1
c.*17G>A Single submitter Charcot-Marie-Tooth disease
c.*1822T>G Single submitter Charcot-Marie-Tooth disease type 4B1
c.*1826C>A Single submitter Charcot-Marie-Tooth disease type 4B1
c.*190G>A Single submitter Charcot-Marie-Tooth disease type 4B1
c.*2038C>G Single submitter Charcot-Marie-Tooth disease type 4B1
c.*2042G>C Single submitter Charcot-Marie-Tooth disease type 4B1
c.*207A>G Single submitter Charcot-Marie-Tooth disease type 4B1
c.*239A>T Single submitter Charcot-Marie-Tooth disease type 4B1
c.*335T>C Single submitter Charcot-Marie-Tooth disease type 4B1
c.*660G>A Single submitter Charcot-Marie-Tooth disease type 4B1
c.*679A>C Single submitter Charcot-Marie-Tooth disease type 4B1
c.*810C>G Single submitter Charcot-Marie-Tooth disease type 4B1
c.*825G>A Single submitter Charcot-Marie-Tooth disease type 4B1
c.*910T>A Single submitter Charcot-Marie-Tooth disease type 4B1
p.Ala141Val Single submitter Inborn genetic diseases ⚠
p.Ala242Val Single submitter Inborn genetic diseases ⚠
p.Ala305Val Single submitter Inborn genetic diseases ⚠
p.Ala54= Single submitter Charcot-Marie-Tooth disease type 4B1
p.Ala71Val Single submitter Charcot-Marie-Tooth disease type 4B1 ⚠
p.Arg102Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg144Gln Single submitter Charcot-Marie-Tooth disease type 4
p.Arg162Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg170Gln Single submitter Inborn genetic diseases ⚠
p.Arg170Trp Single submitter Charcot-Marie-Tooth disease type 4
p.Arg266Cys Single submitter ⚠
p.Arg283Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg295Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg295Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg322Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg443Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg571His Single submitter ⚠
p.Arg586Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg586Trp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg596fs Single submitter Charcot-Marie-Tooth disease type 4B1
p.Arg604Gln Single submitter ⚠
p.Arg616Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg621Leu Single submitter Inborn genetic diseases ⚠
p.Arg621Pro Single submitter Charcot-Marie-Tooth disease type 4
p.Arg628Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg62Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn109Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn160Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn178Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn310Ser Single submitter Inborn genetic diseases ⚠
p.Asn373Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn501Ser Single submitter Inborn genetic diseases ⚠
p.Asn561Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn83Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp210Glu Single submitter Inborn genetic diseases ⚠
p.Asp23Tyr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp252del Single submitter Charcot-Marie-Tooth disease type 4
p.Asp320Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp48His Single submitter Inborn genetic diseases ⚠
p.Asp550Tyr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Cys486Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Cys7Phe Single submitter Charcot-Marie-Tooth disease type 4
p.Gln426= Single submitter
p.Gln426Leu Single submitter ⚠
p.Gln590= Single submitter Charcot-Marie-Tooth disease type 4
p.Glu118Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu232Lys Single submitter Charcot-Marie-Tooth disease type 4
p.Glu298Ala Single submitter Inborn genetic diseases ⚠
p.Glu298Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu347Gln Single submitter Inborn genetic diseases ⚠
p.Glu407Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu407Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu450Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu617Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu617fs Single submitter Charcot-Marie-Tooth disease type 4
p.Glu627Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu8Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu8Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly103= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly145del Single submitter Charcot-Marie-Tooth disease type 4
p.Gly169Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly409Arg Single submitter Charcot-Marie-Tooth disease type 4B1 ⚠
p.Gly518Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.His165Pro Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.His165Tyr Single submitter Inborn genetic diseases
p.His32Asp Single submitter Charcot-Marie-Tooth disease type 4B1 ⚠
p.His32Tyr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.His471Tyr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.His511Tyr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ile132Val Single submitter Inborn genetic diseases ⚠
p.Ile175Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ile227Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ile250Thr Single submitter ⚠
p.Ile267Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ile318Val Single submitter ⚠
p.Ile374Thr Single submitter Charcot-Marie-Tooth disease type 4
p.Ile392Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ile395Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ile402Thr Single submitter Inborn genetic diseases ⚠
p.Ile618Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ile94Met Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ile94Thr Single submitter Inborn genetic diseases ⚠
p.Leu105Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Leu10Val Single submitter Inborn genetic diseases ⚠
p.Leu161Val Single submitter Inborn genetic diseases ⚠
p.Leu213Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Leu25Phe Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Leu303Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Leu366Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Leu380Phe Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Leu505Pro Single submitter Inborn genetic diseases ⚠
p.Leu521His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Leu548Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Leu70Val Single submitter ⚠
p.Lys3Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Lys588Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Lys603Glu Single submitter Charcot-Marie-Tooth disease type 4
p.Lys609Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Lys89Glu Single submitter
p.Lys89Thr Single submitter Charcot-Marie-Tooth disease type 4
p.Met117Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Met432Ile Single submitter Inborn genetic diseases ⚠
p.Met434Thr Single submitter Inborn genetic diseases ⚠
p.Met490Val Single submitter Inborn genetic diseases ⚠
p.Met87Ile Single submitter Inborn genetic diseases ⚠
p.Phe317Cys Single submitter Inborn genetic diseases ⚠
p.Phe319Ser Single submitter Inborn genetic diseases ⚠
p.Phe480Val Single submitter Inborn genetic diseases ⚠
p.Phe498Leu Single submitter Charcot-Marie-Tooth disease type 4B1 ⚠
p.Phe551Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Phe97Ile Single submitter Charcot-Marie-Tooth disease type 4B1 ⚠
p.Pro20Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Pro251Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Pro592Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Pro76Ala Single submitter Inborn genetic diseases ⚠
p.Pro77Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser12Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser21Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser21Ile Single submitter ⚠
p.Ser271Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser296Asn Single submitter Inborn genetic diseases ⚠
p.Ser31Phe Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser324Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser455Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser4Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser4Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser514Gly Single submitter Inborn genetic diseases ⚠
p.Ser53Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser546Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser624_Ser626dup Single submitter Charcot-Marie-Tooth disease type 4
p.Ser626Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Thr106Pro Single submitter Charcot-Marie-Tooth disease type 4B1 ⚠
p.Thr153Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Thr228Arg Single submitter ⚠
p.Thr30Ala Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Thr52Ile Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Thr537Ile Single submitter ⚠
p.Thr552Ala Single submitter Inborn genetic diseases ⚠
p.Trp453Arg Single submitter Charcot-Marie-Tooth disease type 4B1 ⚠
p.Trp488Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Tyr209Cys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Tyr240Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Tyr438His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Tyr565Phe Single submitter Inborn genetic diseases ⚠
p.Tyr93His Single submitter ⚠
p.Val101Ile Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Val124del Single submitter Charcot-Marie-Tooth disease type 4
p.Val135Ala Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Val154Met Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Val22Gly Single submitter Inborn genetic diseases ⚠
p.Val246Glu Single submitter Inborn genetic diseases ⚠
p.Val258Met Single submitter Inborn genetic diseases ⚠
p.Val291Met Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Val349Phe Single submitter Inborn genetic diseases
p.Val44Ala Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Val479Ile Single submitter Inborn genetic diseases ⚠
p.Val487Gly Single submitter ⚠
p.Val538Ala Single submitter Inborn genetic diseases ⚠
p.Val611Ala Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Val611fs Single submitter Charcot-Marie-Tooth disease type 4
p.Val639Phe Single submitter Charcot-Marie-Tooth disease ⚠
c.358-2A>T No assertion criteria Charcot-Marie-Tooth disease
c.*53G>A No assertion criteria Charcot-Marie-Tooth disease
p.Arg283Trp No assertion criteria Charcot-Marie-Tooth disease ⚠
p.Asn109fs No assertion criteria Charcot-Marie-Tooth disease
p.Ile281fs No assertion criteria Charcot-Marie-Tooth disease
p.Leu10fs No assertion criteria Charcot-Marie-Tooth disease type 4B1
p.Leu448Pro No assertion criteria Charcot-Marie-Tooth disease ⚠
p.Leu512fs No assertion criteria Charcot-Marie-Tooth disease