TRIM2 — 543 ClinVar variants

All ClinVar germline TRIM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 225 flagged for review →

3 Pathogenic · 4 Likely pathogenic · 5 Conflicting · 22 Benign · 2 Benign/Likely benign · 238 Likely benign · 269 Uncertain significance

Full TRIM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 225

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 1

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

TRIM2 p.Ile733Val Conflicting Single submitter
Charcot-Marie-Tooth disease type 2R

Predictors lean, ClinVar uncertain 159

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 159

TRIM2 p.Ala139Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala174Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala225Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala225Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg166Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg166Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg245His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg321Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg41Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg450Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg502Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asp149Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asp269His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gln273Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Glu126Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Glu306Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gly171Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gly471Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.His218Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile130Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile539Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile552Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile664Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile711Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ser226Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ser277Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ser305Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr348Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr358Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr365Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Val297Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Val461Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala102Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala103Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala125Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala136Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala139Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala174Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala190Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala190Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala198Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala29Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala394Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala452Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala482Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala482Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala482Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala655Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala656Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ala80Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg119Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg433Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg440Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg612Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg638Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg647Met Uncertain significance Single submitter
TRIM2 p.Arg647Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg91His Uncertain significance Single submitter
TRIM2 p.Arg91Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asn389Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asn411Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asn509His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asn509Ser Uncertain significance Single submitter
TRIM2 p.Asn542Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asn613Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asn761Ser Uncertain significance Single submitter
TRIM2 p.Asp115Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asp149Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asp229Tyr Uncertain significance Single submitter
TRIM2 p.Asp313Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asp324Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asp400Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asp531Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asp590Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asp751Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gln187Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gln187His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gln195Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gln265Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gln287Arg Uncertain significance Single submitter
TRIM2 p.Gln287Leu Uncertain significance Single submitter
TRIM2 p.Gln678Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Glu154Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Glu167Lys Uncertain significance Single submitter
TRIM2 p.Glu215Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Glu276Asp Uncertain significance Single submitter
TRIM2 p.Glu310Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Glu31Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Glu333Lys Uncertain significance Single submitter
TRIM2 p.Glu360Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gly122Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gly171Trp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gly32Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gly382Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gly388Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gly406Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gly414Val Uncertain significance Single submitter
TRIM2 p.Gly554Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gly558Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gly572Glu Uncertain significance Single submitter
TRIM2 p.Gly598Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gly633Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.His232Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile216Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile231Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile278Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile375Val Uncertain significance Single submitter
TRIM2 p.Ile449Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile500Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile574Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile597Thr Uncertain significance Single submitter
TRIM2 p.Ile628Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile635Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Leu242Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Leu409Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Leu430Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Lys182Arg Uncertain significance Single submitter
TRIM2 p.Lys246Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Lys279Asn Uncertain significance Single submitter
TRIM2 p.Lys301Arg Uncertain significance Single submitter
TRIM2 p.Met371Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Met371Val Uncertain significance Single submitter
TRIM2 p.Met603Val Uncertain significance Single submitter
TRIM2 p.Met683Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Met683Thr Uncertain significance Single submitter
TRIM2 p.Phe212Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Phe444Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Pro142Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Pro142Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Pro177Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Pro320Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Pro36Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Pro399Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Pro699Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Pro88Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ser123Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ser191Leu Uncertain significance Single submitter
TRIM2 p.Ser372Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ser397Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ser522Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ser736Thr Uncertain significance Single submitter
TRIM2 p.Thr120Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr169Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr221Asn Uncertain significance Single submitter
TRIM2 p.Thr221Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr234Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr241Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr393Ala Uncertain significance Single submitter
TRIM2 p.Thr415Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr429Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R

Predictors split 65

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

TRIM2 p.Arg549His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg612Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Glu252Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gly343Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile110Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Leu220Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Met484Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Pro739Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr293Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Val116Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg363Trp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg464Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg490Leu Uncertain significance Single submitter
TRIM2 p.Arg549Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg555Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg555His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg56Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg56Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg56Trp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg612His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg642Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Arg768Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asn107Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asp230Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asp381His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asp400Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Asp578Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Cys624Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gln42Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gln535Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gln630Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Glu512Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Glu98Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Gly274Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile616Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ile635Thr Uncertain significance Single submitter
TRIM2 p.Ile710Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Leu181Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Lys262Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Lys412Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Met304Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Met484Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Phe328Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Pro399His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Pro468Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ser266Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ser37Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ser37Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ser470Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ser470Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Ser571Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr162Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr293Lys Uncertain significance Single submitter
TRIM2 p.Thr358Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr365Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr374Asn Uncertain significance Single submitter
TRIM2 p.Thr387Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr637Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr84Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr84Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Thr93Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Val184Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Val40Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R
TRIM2 p.Val448Met Uncertain significance Single submitter
TRIM2 p.Val702Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2R

All TRIM2 variants

Pathogenic 3

p.Pro79fs Single submitter Charcot-Marie-Tooth disease type 2R
p.Glu254Val No assertion criteria Charcot-Marie-Tooth disease type 2R
p.Lys594fs No assertion criteria Charcot-Marie-Tooth disease type 2R

Likely pathogenic 4

p.Arg3fs Single submitter
p.Arg490Ter Single submitter
p.Asp667Ala Single submitter Charcot-Marie-Tooth disease type 2R
p.Val657fs Single submitter Charcot-Marie-Tooth disease type 2R

Conflicting classifications of pathogenicity 5

p.Ala139= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gly359= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ile733Val Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ser94= Single submitter Charcot-Marie-Tooth disease type 2R
p.Val755= Single submitter Charcot-Marie-Tooth disease type 2R

Benign 22

c.1783-139A>G Multiple submitters
c.215+217G>A Multiple submitters
c.215+39G>A Multiple submitters Charcot-Marie-Tooth disease type 2R
c.30+286T>C Multiple submitters
c.-49+51013T>C Multiple submitters
p.Thr135= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Thr344= Multiple submitters Charcot-Marie-Tooth disease type 2R
c.1511-149T>C Single submitter
c.1614+49T>G Single submitter
c.1951+223T>C Single submitter
c.1951+224C>T Single submitter
c.1952-277T>C Single submitter
c.2022+13C>T Single submitter Charcot-Marie-Tooth disease type 2R
c.31-206T>C Single submitter
c.31-217C>T Single submitter
c.31-261G>A Single submitter
c.453+294del Single submitter
c.606-174dup Single submitter
c.787-202G>T Single submitter
c.*311dup Single submitter
p.Glu333= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ile339= Single submitter Charcot-Marie-Tooth disease type 2R

Benign/Likely benign 2

c.605+19A>C Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Asn290= Multiple submitters Charcot-Marie-Tooth disease type 2R

Likely benign 238

c.1782+143G>C Multiple submitters
c.606-78C>T Multiple submitters
p.Ala286= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Arg41His Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Asn323= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Asn632= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Asp115= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Gly518= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Gly742= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.His148= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.His173= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Leu203= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Leu253= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Leu272= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Lys506= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Lys685= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Phe723= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Pro370= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Pro97= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Ser305= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Ser589= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Thr393= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Thr458= Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Val566= Multiple submitters Charcot-Marie-Tooth disease type 2R
c.1510+13C>T Single submitter Charcot-Marie-Tooth disease type 2R
c.1510+19T>C Single submitter Charcot-Marie-Tooth disease type 2R
c.1510+265A>G Single submitter
c.1510+9A>T Single submitter Charcot-Marie-Tooth disease type 2R
c.1511-11A>G Single submitter Charcot-Marie-Tooth disease type 2R
c.1511-13T>C Single submitter Charcot-Marie-Tooth disease type 2R
c.1511-346G>A Single submitter
c.1511-5T>C Single submitter Charcot-Marie-Tooth disease type 2R
c.1614+9C>T Single submitter Charcot-Marie-Tooth disease type 2R
c.1615-15T>A Single submitter Charcot-Marie-Tooth disease type 2R
c.1615-17T>C Single submitter Charcot-Marie-Tooth disease type 2R
c.1615-5T>C Single submitter Charcot-Marie-Tooth disease type 2R
c.1615-7C>G Single submitter Charcot-Marie-Tooth disease type 2R
c.1782+14C>T Single submitter Charcot-Marie-Tooth disease type 2R
c.1782+7T>C Single submitter Charcot-Marie-Tooth disease type 2R
c.1783-10T>C Single submitter Charcot-Marie-Tooth disease type 2R
c.1783-128T>C Single submitter
c.1783-319T>G Single submitter
c.1951+10A>G Single submitter Charcot-Marie-Tooth disease type 2R
c.1951+8C>T Single submitter Charcot-Marie-Tooth disease type 2R
c.1952-12T>C Single submitter Charcot-Marie-Tooth disease type 2R
c.1952-13A>G Single submitter Charcot-Marie-Tooth disease type 2R
c.1952-291C>T Single submitter
c.1952-4G>A Single submitter Charcot-Marie-Tooth disease type 2R
c.1952-6T>C Single submitter Charcot-Marie-Tooth disease type 2R
c.2022+18G>A Single submitter Charcot-Marie-Tooth disease type 2R
c.2022+19T>C Single submitter Charcot-Marie-Tooth disease type 2R
c.2022+242T>G Single submitter
c.2023-10T>C Single submitter Charcot-Marie-Tooth disease type 2R
c.2023-9T>C Single submitter Charcot-Marie-Tooth disease type 2R
c.215+10C>T Single submitter Charcot-Marie-Tooth disease type 2R
c.215+7C>T Single submitter Charcot-Marie-Tooth disease type 2R
c.216-13G>T Single submitter Charcot-Marie-Tooth disease type 2R
c.216-18C>T Single submitter Charcot-Marie-Tooth disease type 2R
c.216-237A>G Single submitter
c.216-6C>T Single submitter
c.2163+11G>A Single submitter Charcot-Marie-Tooth disease type 2R
c.2163+14C>T Single submitter Charcot-Marie-Tooth disease type 2R
c.2163+270T>C Single submitter
c.2163+9A>G Single submitter Charcot-Marie-Tooth disease type 2R
c.2164-12_2164-9del Single submitter Charcot-Marie-Tooth disease type 2R
c.2164-147C>T Single submitter
c.2164-14C>G Single submitter Charcot-Marie-Tooth disease type 2R
c.2164-16T>C Single submitter Charcot-Marie-Tooth disease type 2R
c.2164-259T>C Single submitter
c.30+16A>C Single submitter Charcot-Marie-Tooth disease type 2R
c.453+10T>A Single submitter Charcot-Marie-Tooth disease type 2R
c.453+13G>A Single submitter Charcot-Marie-Tooth disease type 2R
c.453+8G>A Single submitter Charcot-Marie-Tooth disease type 2R
c.453+8G>T Single submitter Charcot-Marie-Tooth disease type 2R
c.454-11G>A Single submitter Charcot-Marie-Tooth disease type 2R
c.454-13G>C Single submitter Charcot-Marie-Tooth disease type 2R
c.454-168C>G Single submitter
c.454-16C>T Single submitter Charcot-Marie-Tooth disease type 2R
c.454-18T>C Single submitter Charcot-Marie-Tooth disease type 2R
c.454-2106A>C Single submitter
c.454-2111C>T Single submitter
c.454-298C>A Single submitter
c.454-6C>T Single submitter Charcot-Marie-Tooth disease type 2R
c.605+10C>A Single submitter Charcot-Marie-Tooth disease type 2R
c.605+132T>C Single submitter
c.605+14C>T Single submitter Charcot-Marie-Tooth disease type 2R
c.605+20del Single submitter Charcot-Marie-Tooth disease type 2R
c.605+8A>C Single submitter Charcot-Marie-Tooth disease type 2R
c.605+9C>A Single submitter Charcot-Marie-Tooth disease type 2R
c.606-242A>C Single submitter
c.606-9G>C Single submitter Charcot-Marie-Tooth disease type 2R
c.786+10G>A Single submitter Charcot-Marie-Tooth disease type 2R
c.786+10G>C Single submitter Charcot-Marie-Tooth disease type 2R
c.786+15A>G Single submitter Charcot-Marie-Tooth disease type 2R
c.786+217G>A Single submitter
c.786+85G>T Single submitter
c.786+9A>G Single submitter Charcot-Marie-Tooth disease type 2R
c.787-14C>T Single submitter Charcot-Marie-Tooth disease type 2R
c.787-4G>T Single submitter Charcot-Marie-Tooth disease type 2R
c.-49+50924G>A Single submitter
c.*1151TA[8] Single submitter
c.*221A>G Single submitter
c.*2517A>C Single submitter
c.*7G>A Single submitter
p.Ala102= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala103= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala136= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala138= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala190= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala288= Single submitter
p.Ala312= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala350= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala357= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala394= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala404= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala482= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala520= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala577= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala623= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala713= Single submitter Charcot-Marie-Tooth disease type 2R
p.Arg440= Single submitter Charcot-Marie-Tooth disease type 2R
p.Arg464= Single submitter Charcot-Marie-Tooth disease type 2R
p.Arg508= Single submitter Charcot-Marie-Tooth disease type 2R
p.Arg56= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asn124= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asn283= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asn309= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asn389= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asn413= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asn509= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asn542= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asn59= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asn621= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asn697= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asn707= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asn717= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asp381= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asp400= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asp405= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asp497= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asp543= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asp573= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asp580= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asp590= Single submitter Charcot-Marie-Tooth disease type 2R
p.Asp714= Single submitter Charcot-Marie-Tooth disease type 2R
p.Cys157= Single submitter Charcot-Marie-Tooth disease type 2R
p.Cys385= Single submitter Charcot-Marie-Tooth disease type 2R
p.Cys625= Single submitter Charcot-Marie-Tooth disease type 2R
p.Cys70= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gln275= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gln630= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gln695= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gln771= Single submitter Charcot-Marie-Tooth disease type 2R
p.Glu127= Single submitter Charcot-Marie-Tooth disease type 2R
p.Glu170= Single submitter Charcot-Marie-Tooth disease type 2R
p.Glu172= Single submitter Charcot-Marie-Tooth disease type 2R
p.Glu254= Single submitter Charcot-Marie-Tooth disease type 2R
p.Glu425= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gly150= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gly258= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gly274= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gly361= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gly382= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gly401= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gly406= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gly460= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gly752= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gly760= Single submitter Charcot-Marie-Tooth disease type 2R
p.His81= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ile110= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ile130= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ile216= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ile329= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ile375= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ile449= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ile495= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ile500= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ile711= Single submitter Charcot-Marie-Tooth disease type 2R
p.Leu131= Single submitter Charcot-Marie-Tooth disease type 2R
p.Leu143= Single submitter Charcot-Marie-Tooth disease type 2R
p.Leu181= Single submitter
p.Leu196= Single submitter Charcot-Marie-Tooth disease type 2R
p.Leu298= Single submitter Charcot-Marie-Tooth disease type 2R
p.Leu342= Single submitter Charcot-Marie-Tooth disease type 2R
p.Leu362= Single submitter Charcot-Marie-Tooth disease type 2R
p.Leu384= Single submitter Charcot-Marie-Tooth disease type 2R
p.Leu432= Single submitter Charcot-Marie-Tooth disease type 2R
p.Leu48= Single submitter Charcot-Marie-Tooth disease type 2R
p.Leu560= Single submitter Charcot-Marie-Tooth disease type 2R
p.Leu63= Single submitter Charcot-Marie-Tooth disease type 2R
p.Leu684= Single submitter Charcot-Marie-Tooth disease type 2R
p.Leu74= Single submitter Charcot-Marie-Tooth disease type 2R
p.Leu740= Single submitter Charcot-Marie-Tooth disease type 2R
p.Lys279= Single submitter Charcot-Marie-Tooth disease type 2R
p.Lys336= Single submitter Charcot-Marie-Tooth disease type 2R
p.Lys447= Single submitter Charcot-Marie-Tooth disease type 2R
p.Lys582= Single submitter Charcot-Marie-Tooth disease type 2R
p.Lys592= Single submitter Charcot-Marie-Tooth disease type 2R
p.Lys61= Single submitter Charcot-Marie-Tooth disease type 2R
p.Phe428= Single submitter Charcot-Marie-Tooth disease type 2R
p.Pro121= Single submitter Charcot-Marie-Tooth disease type 2R
p.Pro38= Single submitter Charcot-Marie-Tooth disease type 2R
p.Pro443= Single submitter Charcot-Marie-Tooth disease type 2R
p.Pro456= Single submitter Charcot-Marie-Tooth disease type 2R
p.Pro481= Single submitter Charcot-Marie-Tooth disease type 2R
p.Pro557= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ser191= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ser208= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ser338= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ser372= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ser402= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ser442= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ser451= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ser51= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ser599= Single submitter Charcot-Marie-Tooth disease type 2R
p.Ser641= Single submitter Charcot-Marie-Tooth disease type 2R
p.Thr120= Single submitter Charcot-Marie-Tooth disease type 2R
p.Thr169= Single submitter Charcot-Marie-Tooth disease type 2R
p.Thr293= Single submitter Charcot-Marie-Tooth disease type 2R
p.Thr295= Single submitter Charcot-Marie-Tooth disease type 2R
p.Thr332= Single submitter Charcot-Marie-Tooth disease type 2R
p.Thr348= Single submitter Charcot-Marie-Tooth disease type 2R
p.Thr355= Single submitter Charcot-Marie-Tooth disease type 2R
p.Thr358= Single submitter Charcot-Marie-Tooth disease type 2R
p.Thr365= Single submitter Charcot-Marie-Tooth disease type 2R
p.Thr387= Single submitter Charcot-Marie-Tooth disease type 2R
p.Thr398= Single submitter Charcot-Marie-Tooth disease type 2R
p.Thr735= Single submitter Charcot-Marie-Tooth disease type 2R
p.Tyr420= Single submitter Charcot-Marie-Tooth disease type 2R
p.Tyr732= Single submitter Charcot-Marie-Tooth disease type 2R
p.Tyr769= Single submitter Charcot-Marie-Tooth disease type 2R
p.Val248= Single submitter Charcot-Marie-Tooth disease type 2R
p.Val39= Single submitter Charcot-Marie-Tooth disease type 2R
p.Val473= Single submitter Charcot-Marie-Tooth disease type 2R
p.Val478= Single submitter Charcot-Marie-Tooth disease type 2R
p.Val537= Single submitter Charcot-Marie-Tooth disease type 2R
c.-2C>T No assertion criteria TRIM2-related disorder
p.Ala19= No assertion criteria TRIM2-related disorder

Uncertain significance 269

p.Ala139Val Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Ala174Thr Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Ala225Ser Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Ala225Thr Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Arg166Gln Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Arg166Trp Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Arg245His Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Arg27Met Multiple submitters
p.Arg321Gln Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Arg41Cys Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Arg450Gln Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Arg502Gln Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Arg549His Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Arg612Cys Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Asp149Asn Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Asp269His Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Asp611Asn Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Gln273Arg Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Glu126Gly Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Glu252Asp Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Glu306Gln Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Gly171Ala Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Gly343Ala Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Gly471Ser Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.His218Arg Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Ile110Val Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Ile130Val Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Ile539Leu Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Ile552Met Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Ile664Val Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Ile711Thr Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Leu220Ser Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Leu249Val Multiple submitters Charcot-Marie-Tooth disease type 2R
p.Met484Lys Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Pro739Ser Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Ser226Asn Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Ser277Asn Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Ser305Asn Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Thr293Met Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Thr348Ser Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Thr358Met Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Thr365Ser Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Val116Met Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Val297Ile Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
p.Val461Leu Multiple submitters Charcot-Marie-Tooth disease type 2R ⚠
c.1510+1G>C Single submitter Charcot-Marie-Tooth disease type 2R
c.1510+3A>G Single submitter Charcot-Marie-Tooth disease type 2R
c.1510+3A>T Single submitter Charcot-Marie-Tooth disease type 2R
c.1783-3C>T Single submitter Charcot-Marie-Tooth disease type 2R
c.1951+20G>A Single submitter Charcot-Marie-Tooth disease type 2R
c.1952-3C>T Single submitter Charcot-Marie-Tooth disease type 2R
c.2022+6A>G Single submitter Charcot-Marie-Tooth disease type 2R
c.2164-1G>A Single submitter Charcot-Marie-Tooth disease type 2R
c.605+3G>A Single submitter Charcot-Marie-Tooth disease type 2R
c.605+6G>A Single submitter Charcot-Marie-Tooth disease type 2R
c.*2749G>C Single submitter
p.Ala102Val Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala103Thr Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala125Thr Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala136Val Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala139Pro Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala174Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala190Gly Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala190Thr Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala198Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala29Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala394Thr Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala404Gly Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala452Pro Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala482fs Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala482Gly Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala482Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala482Thr Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala655Glu Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala656Asp Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ala656Ser Single submitter Charcot-Marie-Tooth disease type 2R
p.Ala80Val Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg119Gln Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg27Ser Single submitter
p.Arg27Thr Single submitter
p.Arg363Trp Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg433Lys Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg440Gln Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg440Ter Single submitter Charcot-Marie-Tooth disease type 2R
p.Arg450Ter Single submitter Charcot-Marie-Tooth disease type 2R
p.Arg464Cys Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg464His Single submitter Charcot-Marie-Tooth disease type 2R
p.Arg490Leu Single submitter ⚠
p.Arg549Cys Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg555Cys Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg555His Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg56Gln Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg56Leu Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg56Trp Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg612His Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg612Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg638Gly Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg642Gln Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg642Ter Single submitter Charcot-Marie-Tooth disease type 2R
p.Arg647Met Single submitter ⚠
p.Arg647Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg768Gln Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Arg91His Single submitter ⚠
p.Arg91Leu Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asn107Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asn341fs Single submitter Charcot-Marie-Tooth disease type 2R
p.Asn389Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asn411Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asn509His Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asn509Ser Single submitter ⚠
p.Asn542Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asn613Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asn761Ser Single submitter ⚠
p.Asp115Glu Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asp149Glu Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asp229Tyr Single submitter ⚠
p.Asp230Tyr Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asp313Asn Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asp324Asn Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asp381His Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asp400Asn Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asp400Gly Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asp531Asn Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asp578Asn Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asp590Asn Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Asp751Asn Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Cys281Tyr Single submitter Charcot-Marie-Tooth disease type 2R
p.Cys624Phe Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gln187Arg Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gln187His Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gln195Lys Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gln211= Single submitter Charcot-Marie-Tooth disease type 2R
p.Gln265Arg Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gln287Arg Single submitter ⚠
p.Gln287Leu Single submitter ⚠
p.Gln42Pro Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gln535Lys Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gln630Arg Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gln678Arg Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Glu154Gly Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Glu167Lys Single submitter ⚠
p.Glu215Gly Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Glu276Asp Single submitter ⚠
p.Glu310Lys Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Glu31Lys Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Glu333Lys Single submitter ⚠
p.Glu360Asp Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Glu360Gly Single submitter
p.Glu512Gln Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Glu55Gln Single submitter Charcot-Marie-Tooth disease type 2R
p.Glu71Gln Single submitter Charcot-Marie-Tooth disease type 2R
p.Glu98Lys Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gly122Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gly171Arg Single submitter Charcot-Marie-Tooth disease type 2R
p.Gly171Trp Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gly274Arg Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gly32Asp Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gly334_Leu335insTer Single submitter Charcot-Marie-Tooth disease type 2R
p.Gly382Cys Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gly388Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gly406Glu Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gly414Val Single submitter ⚠
p.Gly554Glu Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gly558Glu Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gly572Glu Single submitter ⚠
p.Gly598Val Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gly633Arg Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.His232Tyr Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.His472fs Single submitter Charcot-Marie-Tooth disease type 2R
p.His669fs Single submitter Charcot-Marie-Tooth disease type 2R
p.Ile216Met Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ile231Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ile278Val Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ile375Val Single submitter ⚠
p.Ile449Thr Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ile500Met Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ile574Val Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ile597Thr Single submitter ⚠
p.Ile616Val Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ile628Val Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ile635Leu Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ile635Thr Single submitter ⚠
p.Ile710Lys Single submitter Charcot-Marie-Tooth disease type 2R
p.Ile710Met Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ile720Val Single submitter
p.Leu181Phe Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Leu242Phe Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Leu264fs Single submitter Charcot-Marie-Tooth disease type 2R
p.Leu409Val Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Leu430Arg Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Leu770fs Single submitter Charcot-Marie-Tooth disease type 2R
p.Lys182Arg Single submitter ⚠
p.Lys240Glu Single submitter
p.Lys246Asn Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Lys262Asn Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Lys279Asn Single submitter ⚠
p.Lys301Arg Single submitter ⚠
p.Lys412Met Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Met304Ile Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Met371Ile Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Met371Val Single submitter ⚠
p.Met484Ile Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Met603Val Single submitter ⚠
p.Met683Ile Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Met683Thr Single submitter ⚠
p.Phe212Leu Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Phe328Ile Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Phe444Leu Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Pro142Arg Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Pro142Leu Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Pro177Ala Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Pro320Leu Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Pro36Thr Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Pro399Arg Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Pro399His Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Pro468Leu Single submitter Charcot-Marie-Tooth disease type 2R
p.Pro468Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Pro557Leu Single submitter Charcot-Marie-Tooth disease type 2R
p.Pro699Leu Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Pro88Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ser123Cys Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ser191Leu Single submitter ⚠
p.Ser266Pro Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ser266Ter Single submitter Charcot-Marie-Tooth disease type 2R
p.Ser372Thr Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ser37Arg Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ser37Asn Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ser397Asn Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ser470Arg Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ser470Cys Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ser522Cys Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ser571Ile Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Ser736Thr Single submitter ⚠
p.Thr120Ala Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr135Met Single submitter Charcot-Marie-Tooth disease type 2R
p.Thr162Asn Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr169Met Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr221Asn Single submitter ⚠
p.Thr221Ile Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr234Ile Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr241Asn Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr293Lys Single submitter ⚠
p.Thr358Lys Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr365Pro Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr374Asn Single submitter ⚠
p.Thr387Pro Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr393Ala Single submitter ⚠
p.Thr415Ala Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr429Ser Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr487Ala Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr637Ile Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr84Asn Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr84Ile Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr93Asn Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Thr9Met Single submitter
p.Tyr485His Single submitter Charcot-Marie-Tooth disease type 2R
p.Val152Met Single submitter ⚠
p.Val184Met Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Val194= Single submitter Charcot-Marie-Tooth disease type 2R
p.Val244Ala Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Val40Ala Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Val422Leu Single submitter ⚠
p.Val448Met Single submitter ⚠
p.Val465Phe Single submitter ⚠
p.Val537Met Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Val626Met Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Val702Ile Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Val754Ile Single submitter Charcot-Marie-Tooth disease type 2R ⚠
p.Gly640Cys No assertion criteria axonal neuropathy ⚠