GARS1 — 873 ClinVar variants

All ClinVar germline GARS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 393 flagged for review →

13 Pathogenic · 6 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 68 Conflicting · 55 Benign · 25 Benign/Likely benign · 241 Likely benign · 454 Uncertain significance

Full GARS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 393

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

Predictors vs ClinVar 1

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

GARS1 p.Met292Thr Likely pathogenic Single submitter

Predictors agree, ClinVar conflicts 33

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

GARS1 p.Arg101Cys Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg391Cys Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg391His Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg689Gly Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asn367Ser Conflicting Single submitter
distal hereditary motor neuropathy
GARS1 p.Asn493Ser Conflicting Single submitter
distal hereditary motor neuropathy
GARS1 p.Asp554Asn Conflicting Single submitter
distal hereditary motor neuropathy
GARS1 p.Cys211Arg Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Gln88Glu Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Glu720Ala Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.His216Arg Conflicting Single submitter
Charcot-Marie-Tooth disease type 2D
GARS1 p.His641Tyr Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ile334Met Conflicting Single submitter
neuronopathy, distal hereditary motor, type 5A
GARS1 p.Leu20Pro Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Leu565Gln Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Leu725Val Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Met281Ile Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Pro336Arg Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Pro336Ser Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Pro572Leu Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ser241Asn Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ser335Phe Conflicting Single submitter
spinal muscular atrophy, infantile, James type
GARS1 p.Ser606Asn Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ser635Leu Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Tyr518Cys Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Val263Ile Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Val610Ile Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Val618Ile Conflicting Single submitter
distal hereditary motor neuropathy
GARS1 p.Val7Leu Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Val91Ile Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Glu125Gly Conflicting No assertion criteria
Charcot-Marie-Tooth disease
GARS1 p.Gly652Ala Conflicting No assertion criteria
spinal muscular atrophy, infantile, James type
GARS1 p.Pro298Leu Conflicting No assertion criteria
Charcot-Marie-Tooth disease type 2D

Predictors lean, ClinVar uncertain 262

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 262

GARS1 p.Ala12Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala255Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala349Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala387Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala38Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala438Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala94Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg213Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg213His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg27Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg337Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg34Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg388Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg388Trp Uncertain significance Multiple submitters
spinal muscular atrophy, infantile, James type
GARS1 p.Arg412Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg412His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg430Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg657Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg689Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg693Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Asn403Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp135Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp205Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp356Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Cys231Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Gln223Arg Uncertain significance Multiple submitters
GARS1-related neuropathies
GARS1 p.Gln245Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Gln73Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Glu109Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Glu253Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Glu62Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Gly143Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Gly327Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Gly407Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Gly460Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.His682Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ile118Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ile286Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ile504Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ile584Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ile664Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ile737Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Leu246Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Lys219Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Met182Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Met348Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2D
GARS1 p.Met55Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Phe285Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Phe409Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Phe604Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Phe726Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Pro42Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Pro43Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Pro485Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2D
GARS1 p.Pro489Ser Uncertain significance Multiple submitters
GARS1 p.Pro577Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Pro620Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Pro681Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2D
GARS1 p.Pro703Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ser241Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ser35Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ser35Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Thr736Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Tyr134Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Tyr467Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Tyr566Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Val206Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2D
GARS1 p.Val400Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala100Thr Uncertain significance Single submitter
GARS1 p.Ala111Thr Uncertain significance Single submitter
GARS1 p.Ala111Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala14Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala214Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala255Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala380Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala447Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2D
GARS1 p.Ala473Ser Uncertain significance Single submitter
GARS1 p.Ala49Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala50Ser Uncertain significance Single submitter
GARS1 p.Ala58Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala612Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala65Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala684Thr Uncertain significance Single submitter
GARS1 p.Ala70Val Uncertain significance Single submitter
GARS1 p.Ala96Thr Uncertain significance Single submitter
GARS1 p.Arg101Leu Uncertain significance Single submitter
GARS1 p.Arg10Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg121Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg13Pro Uncertain significance Single submitter
GARS1 p.Arg166Lys Uncertain significance Single submitter
spinal muscular atrophy, infantile, James type
GARS1 p.Arg310Gln Uncertain significance Single submitter
GARS1 p.Arg34Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg391Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg428Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg428Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg430Trp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg474Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg474Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg52Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2D
GARS1 p.Arg52Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg583Lys Uncertain significance Single submitter
GARS1 p.Arg640Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg657His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg693Trp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg722Ser Uncertain significance Single submitter
GARS1 p.Asn160Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asn279Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asn328Ser Uncertain significance Single submitter
GARS1 p.Asn678Lys Uncertain significance Single submitter
GARS1 p.Asp116Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp116Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp117Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp117Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp126Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp149Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp179Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp205His Uncertain significance Single submitter
GARS1 p.Asp215Gly Uncertain significance Single submitter
GARS1 p.Asp228Glu Uncertain significance Single submitter
GARS1 p.Asp356Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp394Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp443Tyr Uncertain significance Single submitter
GARS1 p.Asp446Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp463Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp511His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp523Gly Uncertain significance Single submitter
GARS1 p.Asp523Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp56Asn Uncertain significance Single submitter
GARS1 p.Asp648Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp649Asn Uncertain significance Single submitter
GARS1 p.Asp649His Uncertain significance Single submitter
GARS1 p.Asp673Asn Uncertain significance Single submitter
GARS1 p.Asp688His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp84Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Cys155Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Cys461Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Cys466Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Cys466Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Cys466Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Cys525Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Cys525Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Gln113Arg Uncertain significance Single submitter
GARS1 p.Gln174Glu Uncertain significance Single submitter
GARS1 p.Gln251Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Gln325Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Gln381His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2D
GARS1 p.Gln385His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Gln431Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Gln496Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Gln707His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2

Predictors split 97

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

GARS1 p.Ala220Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg103Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg13Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg34Trp Uncertain significance Multiple submitters
GARS1 p.Asn573Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp126Asn Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 5A
GARS1 p.Asp256His Benign/Likely benign Multiple submitters
distal hereditary motor neuropathy
GARS1 p.Asp370His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Gln385Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Glu234Lys Benign/Likely benign Multiple submitters
Charcot-Marie-Tooth disease type 2D
GARS1 p.Glu240Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Glu240Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Gly582Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Leu105Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Leu18Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Lys102Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Lys484Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Lys553Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Phe593Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Thr541Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Thr587Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Tyr261Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Val396Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Val666Met Likely benign Multiple submitters
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala255Val Conflicting Single submitter
distal hereditary motor neuropathy
GARS1 p.Ala323Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala512Thr Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ala70Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg103Thr Uncertain significance Single submitter
GARS1 p.Arg131Lys Uncertain significance Single submitter
GARS1 p.Arg23Trp Uncertain significance Single submitter
GARS1 p.Arg602Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Arg79Gln Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asn160Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asn279Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asn315Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asn328Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp228Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp247Gly Uncertain significance Single submitter
GARS1 p.Asp370Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp511Val Uncertain significance Single submitter
GARS1 p.Asp599Glu Uncertain significance Single submitter
GARS1 p.Asp708Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp718Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Asp76Asn Uncertain significance Single submitter
GARS1 p.Gln163Arg Uncertain significance Single submitter
GARS1 p.Glu234Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Glu240Gly Uncertain significance Single submitter
GARS1 p.Glu569Lys Likely pathogenic Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Glu61Gln Uncertain significance Single submitter
GARS1 p.Gly269Glu Uncertain significance Single submitter
GARS1 p.Gly289Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Gly546Glu Uncertain significance Single submitter
GARS1 p.Gly582Ser Uncertain significance Single submitter
GARS1 p.Gly728Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.His645Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ile140Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ile140Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ile542Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Leu257His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Leu306Phe Uncertain significance Single submitter
GARS1 p.Leu373Phe Uncertain significance Single submitter
GARS1 p.Leu415Val Uncertain significance Single submitter
GARS1 p.Lys318Gln Uncertain significance Single submitter
GARS1 p.Lys450Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Lys82Arg Uncertain significance Single submitter
GARS1 p.Lys85Glu Conflicting Single submitter
Charcot-Marie-Tooth disease type 2D
GARS1 p.Met555Val Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Met585Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Met585Thr Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Met692Thr Uncertain significance Single submitter
GARS1 p.Phe604Leu Uncertain significance Single submitter
GARS1 p.Pro363Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Pro363Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Pro499Ser Uncertain significance Single submitter
GARS1 p.Pro629Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Pro66Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Pro87Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ser232Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ser37Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ser37Ile Uncertain significance Single submitter
GARS1 p.Ser3Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ser423Phe Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Ser470Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Thr418Met Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Thr548Arg Uncertain significance Single submitter
GARS1 p.Thr548Pro Likely benign Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Thr661Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Tyr141His Uncertain significance Single submitter
GARS1 p.Val188Ile Conflicting Single submitter
distal hereditary motor neuropathy
GARS1 p.Val420Ala Uncertain significance Single submitter
GARS1 p.Val459Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Val478Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Val515Ala Uncertain significance Single submitter
GARS1 p.Val515Met Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Val595Ala Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
GARS1 p.Val71Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2

All GARS1 variants

Pathogenic 13

p.His472Arg Multiple submitters Charcot-Marie-Tooth disease
p.Ile334Phe Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu125Lys Single submitter Inborn genetic diseases
p.Glu333Asp Single submitter Charcot-Marie-Tooth disease type 2
p.Glu488Ter Single submitter
p.Gly580Arg Single submitter Charcot-Marie-Tooth disease type 2
p.Ile334Ser Single submitter Charcot-Marie-Tooth disease type 2
p.Leu183Pro Single submitter Charcot-Marie-Tooth disease type 2D
p.Met292Arg Single submitter Charcot-Marie-Tooth disease type 2
p.Glu83fs No assertion criteria GARS-associated growth retardation and developmental delay
p.Gly652Arg No assertion criteria spinal muscular atrophy, infantile, James type
p.Pro336His No assertion criteria Charcot-Marie-Tooth disease type 2D
p.Ser265Tyr No assertion criteria Charcot-Marie-Tooth disease type 2D

Pathogenic/Likely pathogenic 6

p.Asp200Asn Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly294Arg Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly339Arg Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile334Asn Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile334Thr Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser265Phe Multiple submitters Charcot-Marie-Tooth disease type 2

Likely pathogenic 11

p.Glu333Ala Single submitter
p.Glu333Val Single submitter neuronopathy, distal hereditary motor, type 5A
p.Glu345Gly Single submitter Charcot-Marie-Tooth disease type 2
p.Glu345Lys Single submitter GARS-related disorders
p.Glu569Lys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.His472fs Single submitter
p.Leu272Arg Single submitter
p.Met292Thr Single submitter ⚠
p.Pro298Arg Single submitter
p.Pro336Leu Single submitter Charcot-Marie-Tooth disease type 2
p.Asp215His No assertion criteria neuronopathy, distal hereditary motor, type 5A

Conflicting classifications of pathogenicity 68

c.1031+1G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1359+1G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1614-4G>C Single submitter Charcot-Marie-Tooth disease
c.1809+14T>C Single submitter distal hereditary motor neuropathy
c.1810-2A>T Single submitter Charcot-Marie-Tooth disease type 2
c.882-15T>G Single submitter distal hereditary motor neuropathy
c.882-4A>G Single submitter distal hereditary motor neuropathy
c.-6A>G Single submitter Charcot-Marie-Tooth disease type 2
c.-85C>A Single submitter distal hereditary motor neuropathy
p.Ala255= Single submitter distal hereditary motor neuropathy
p.Ala255Val Single submitter distal hereditary motor neuropathy ⚠
p.Ala512Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala94= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg101Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg101His Single submitter distal hereditary motor neuropathy
p.Arg391Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg391His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg689Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg79Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn262= Single submitter Charcot-Marie-Tooth disease type 2
p.Asn367Ser Single submitter distal hereditary motor neuropathy ⚠
p.Asn493Ser Single submitter distal hereditary motor neuropathy ⚠
p.Asp511= Single submitter Charcot-Marie-Tooth disease type 2
p.Asp554Asn Single submitter distal hereditary motor neuropathy ⚠
p.Asp688= Single submitter Charcot-Marie-Tooth disease type 2
p.Cys211Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Cys41Ter Single submitter Charcot-Marie-Tooth disease type 2
p.Gln88Glu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu720Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.His216Arg Single submitter Charcot-Marie-Tooth disease type 2D ⚠
p.His641Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile334Met Single submitter neuronopathy, distal hereditary motor, type 5A ⚠
p.Ile737= Single submitter distal hereditary motor neuropathy
p.Leu128= Single submitter distal hereditary motor neuropathy
p.Leu20dup Single submitter Charcot-Marie-Tooth disease type 2
p.Leu20Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu30= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu565Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu619= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu725Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Lys85Glu Single submitter Charcot-Marie-Tooth disease type 2D ⚠
p.Met281Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met555Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met585Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro336Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro336Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro572= Single submitter distal hereditary motor neuropathy
p.Pro572Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser241Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser335Phe Single submitter spinal muscular atrophy, infantile, James type ⚠
p.Ser423Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser606Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser635Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Thr418Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Tyr453= Single submitter Charcot-Marie-Tooth disease type 2
p.Tyr518Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Val188Ile Single submitter distal hereditary motor neuropathy ⚠
p.Val263Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Val396= Single submitter neuronopathy, distal hereditary motor, type 5A
p.Val515Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Val595Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Val610Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Val618Ile Single submitter distal hereditary motor neuropathy ⚠
p.Val7Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Val91Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu125Gly No assertion criteria Charcot-Marie-Tooth disease ⚠
p.Gly652Ala No assertion criteria spinal muscular atrophy, infantile, James type ⚠
p.Pro298Leu No assertion criteria Charcot-Marie-Tooth disease type 2D ⚠

Benign 55

c.1032-23A>T Multiple submitters
c.1613+9T>C Multiple submitters distal hereditary motor neuropathy
c.2095-6C>T Multiple submitters spinal muscular atrophy, infantile, James type
c.222+5C>T Multiple submitters distal hereditary motor neuropathy
c.659-43C>A Multiple submitters spinal muscular atrophy, infantile, James type
c.-217A>G Multiple submitters distal hereditary motor neuropathy
c.-317G>A Multiple submitters distal hereditary motor neuropathy
p.Leu31= Multiple submitters distal hereditary motor neuropathy
p.Phe354= Multiple submitters distal hereditary motor neuropathy
p.Pro42Ala Multiple submitters spinal muscular atrophy, infantile, James type
p.Thr587= Multiple submitters distal hereditary motor neuropathy
p.Thr715= Multiple submitters distal hereditary motor neuropathy
p.Tyr249= Multiple submitters distal hereditary motor neuropathy
p.Val611= Multiple submitters distal hereditary motor neuropathy
c.1031+229C>T Single submitter
c.1031+77G>A Single submitter
c.1032-149A>T Single submitter
c.1194+212C>G Single submitter
c.1195-80G>A Single submitter
c.1359+299A>G Single submitter
c.1360-335T>C Single submitter
c.1360-339_1360-336del Single submitter
c.1360-71A>C Single submitter
c.1467+330A>C Single submitter
c.1468-285T>C Single submitter
c.1613+159G>A Single submitter
c.1613+199del Single submitter
c.1613+96C>T Single submitter
c.1614-271A>G Single submitter
c.1699+285G>A Single submitter
c.2094+129G>A Single submitter
c.2094+276_2094+277insC Single submitter
c.2094+277G>A Single submitter
c.223-120G>A Single submitter
c.223-304G>A Single submitter
c.324+259T>G Single submitter
c.427+176C>G Single submitter
c.428-139G>A Single submitter
c.428-171del Single submitter
c.428-320G>T Single submitter
c.569+173T>C Single submitter
c.570-151C>A Single submitter
c.570-68_570-64del Single submitter
c.881+290T>C Single submitter
c.-280G>A Single submitter distal hereditary motor neuropathy
c.-418T>A Single submitter
c.-534T>C Single submitter
c.-69T>A Single submitter distal hereditary motor neuropathy
c.*49_*51del Single submitter
c.*50_*51del Single submitter
c.*51del Single submitter
c.*73A>G Single submitter distal hereditary motor neuropathy
p.Leu20del Single submitter Charcot-Marie-Tooth disease type 2
p.Pro43Leu Single submitter Charcot-Marie-Tooth disease type 2
p.Leu32Pro No assertion criteria Charcot-Marie-Tooth disease

Benign/Likely benign 25

c.1031+14T>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.1614-4G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.1700-45T>C Multiple submitters
c.1904-18T>C Multiple submitters Charcot-Marie-Tooth disease type 2
c.-177T>C Multiple submitters distal hereditary motor neuropathy
c.-205C>T Multiple submitters distal hereditary motor neuropathy
c.-225G>A Multiple submitters distal hereditary motor neuropathy
c.*67C>G Multiple submitters distal hereditary motor neuropathy
p.Ala48= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg388Gln Multiple submitters distal hereditary motor neuropathy
p.Arg474= Multiple submitters distal hereditary motor neuropathy
p.Asp256His Multiple submitters distal hereditary motor neuropathy ⚠
p.Asp90= Multiple submitters distal hereditary motor neuropathy
p.Gln136= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu234Lys Multiple submitters Charcot-Marie-Tooth disease type 2D ⚠
p.Glu730= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu738Lys Multiple submitters distal hereditary motor neuropathy
p.His641= Multiple submitters distal hereditary motor neuropathy
p.Ile575Thr Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile654= Multiple submitters distal hereditary motor neuropathy
p.Leu17= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro4Leu Multiple submitters distal hereditary motor neuropathy
p.Thr268Ile Multiple submitters distal hereditary motor neuropathy
p.Val233= Multiple submitters distal hereditary motor neuropathy
c.-36C>A Single submitter distal hereditary motor neuropathy

Likely benign 241

c.1031+9del Multiple submitters Charcot-Marie-Tooth disease type 2
c.1032-14G>A Multiple submitters Charcot-Marie-Tooth disease
c.1032-15C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.1359+97A>G Multiple submitters
c.1699+23_1699+26del Multiple submitters Charcot-Marie-Tooth disease type 2
c.1700-13A>G Multiple submitters Charcot-Marie-Tooth disease
c.1700-17T>C Multiple submitters Charcot-Marie-Tooth disease type 2
c.1809+16C>T Multiple submitters Charcot-Marie-Tooth disease
c.1809+8G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.1904-19C>T Multiple submitters Charcot-Marie-Tooth disease
c.1904-19del Multiple submitters Charcot-Marie-Tooth disease
c.2094+15C>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.223-132G>A Multiple submitters
c.325-9C>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.428-13T>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.428-17C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.881+17G>A Multiple submitters Charcot-Marie-Tooth disease
p.Ala111= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala122= Multiple submitters
p.Ala15Thr Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala15Val Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala58= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala659= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg602= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asn262Asp Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu177= Multiple submitters
p.His194= Multiple submitters Charcot-Marie-Tooth disease type 2
p.His594= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu225= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu272= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu36= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu375= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Lys506= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Phe579= Multiple submitters Charcot-Marie-Tooth disease
p.Ser383= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser54= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr164= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr548= Multiple submitters Charcot-Marie-Tooth disease
p.Tyr526= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val666Met Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
c.1031+10A>T Single submitter Charcot-Marie-Tooth disease type 2
c.1031+19T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1031+7C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1031+9C>G Single submitter Charcot-Marie-Tooth disease type 2
c.1032-20G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1194+12G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1194+12G>C Single submitter Charcot-Marie-Tooth disease type 2
c.1194+13A>G Single submitter
c.1194+15G>T Single submitter Charcot-Marie-Tooth disease type 2
c.1194+7T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1195-19T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1195-47T>C Single submitter
c.1195-8T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1359+12G>A Single submitter
c.1359+17T>G Single submitter Charcot-Marie-Tooth disease type 2
c.1360-10A>G Single submitter Charcot-Marie-Tooth disease type 2
c.1360-12A>G Single submitter Charcot-Marie-Tooth disease type 2
c.1360-322del Single submitter
c.1467+113G>A Single submitter
c.1467+11T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1468-15T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1468-20A>T Single submitter Charcot-Marie-Tooth disease type 2
c.1468-6T>G Single submitter Charcot-Marie-Tooth disease type 2
c.1613+10C>A Single submitter Charcot-Marie-Tooth disease type 2
c.1613+20C>T Single submitter
c.1613+7T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1613+9T>A Single submitter Charcot-Marie-Tooth disease type 2
c.1614-17_1614-16del Single submitter Charcot-Marie-Tooth disease type 2
c.1614-5C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1699+18A>G Single submitter Charcot-Marie-Tooth disease type 2
c.1700-11C>G Single submitter Charcot-Marie-Tooth disease type 2
c.1700-13A>T Single submitter
c.1700-6T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1700-85G>A Single submitter
c.1809+10_1809+12del Single submitter Charcot-Marie-Tooth disease type 2
c.1809+12T>A Single submitter Charcot-Marie-Tooth disease type 2
c.1809+13G>A Single submitter Charcot-Marie-Tooth disease
c.1809+20G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1809+8G>C Single submitter Charcot-Marie-Tooth disease
c.1810-107T>G Single submitter
c.1810-11A>C Single submitter Charcot-Marie-Tooth disease type 2
c.1810-12T>A Single submitter Charcot-Marie-Tooth disease type 2
c.1810-199G>A Single submitter
c.1810-4C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1903+14A>G Single submitter Charcot-Marie-Tooth disease type 2
c.1903+15T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1903+16T>G Single submitter Charcot-Marie-Tooth disease type 2
c.1903+18G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1903+19G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1904-11A>G Single submitter Charcot-Marie-Tooth disease type 2
c.1904-28T>G Single submitter
c.2094+12T>C Single submitter Charcot-Marie-Tooth disease type 2
c.2094+18T>G Single submitter Charcot-Marie-Tooth disease type 2
c.2095-16C>T Single submitter Charcot-Marie-Tooth disease type 2
c.2095-8G>C Single submitter
c.222+15C>A Single submitter Charcot-Marie-Tooth disease type 2
c.222+17C>A Single submitter Charcot-Marie-Tooth disease type 2
c.223-166G>A Single submitter
c.223-5G>A Single submitter Charcot-Marie-Tooth disease type 2
c.223-5G>T Single submitter Charcot-Marie-Tooth disease type 2
c.324+17T>C Single submitter Charcot-Marie-Tooth disease type 2
c.324+19A>C Single submitter Charcot-Marie-Tooth disease type 2
c.325-292G>T Single submitter
c.325-9C>A Single submitter Charcot-Marie-Tooth disease type 2
c.427+12A>G Single submitter Charcot-Marie-Tooth disease type 2
c.427+14G>T Single submitter Charcot-Marie-Tooth disease type 2
c.428-9A>G Single submitter Charcot-Marie-Tooth disease type 2
c.569+12C>T Single submitter Charcot-Marie-Tooth disease type 2
c.569+20T>G Single submitter Charcot-Marie-Tooth disease type 2
c.569+8C>A Single submitter
c.658+13A>T Single submitter Charcot-Marie-Tooth disease type 2
c.658+14T>C Single submitter
c.658+17C>T Single submitter Charcot-Marie-Tooth disease type 2
c.658+18C>T Single submitter Charcot-Marie-Tooth disease type 2
c.658+20T>C Single submitter Charcot-Marie-Tooth disease type 2
c.735+12A>G Single submitter Charcot-Marie-Tooth disease type 2
c.735+14A>G Single submitter Charcot-Marie-Tooth disease type 2
c.736-13A>G Single submitter Charcot-Marie-Tooth disease type 2
c.736-13A>T Single submitter Charcot-Marie-Tooth disease type 2
c.736-17C>T Single submitter Charcot-Marie-Tooth disease type 2
c.736-9G>A Single submitter Charcot-Marie-Tooth disease type 2
c.881+15T>C Single submitter Charcot-Marie-Tooth disease type 2
c.881+20T>C Single submitter Charcot-Marie-Tooth disease type 2
c.881+240A>G Single submitter
c.881+70T>C Single submitter
c.882-16T>G Single submitter Charcot-Marie-Tooth disease type 2
c.-14A>G Single submitter Charcot-Marie-Tooth disease
c.-40C>A Single submitter
c.*51dup Single submitter
p.Ala100= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala15= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala214= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala323= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala324= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala369= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala38= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala380= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala39= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala447= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala609= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala612= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala70= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg121= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg23= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg388= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg72= Single submitter Charcot-Marie-Tooth disease type 2
p.Asn260= Single submitter Charcot-Marie-Tooth disease type 2
p.Asn279= Single submitter Charcot-Marie-Tooth disease type 2
p.Asn291= Single submitter Charcot-Marie-Tooth disease type 2
p.Asn573= Single submitter Charcot-Marie-Tooth disease type 2
p.Asp179= Single submitter Charcot-Marie-Tooth disease type 2
p.Asp205= Single submitter Charcot-Marie-Tooth disease type 2
p.Asp599= Single submitter Charcot-Marie-Tooth disease type 2
p.Asp648= Single submitter Charcot-Marie-Tooth disease type 2
p.Cys211= Single submitter Charcot-Marie-Tooth disease type 2
p.Cys525= Single submitter Charcot-Marie-Tooth disease type 2
p.Gln223= Single submitter Charcot-Marie-Tooth disease type 2
p.Gln623= Single submitter Charcot-Marie-Tooth disease type 2
p.Gln729= Single submitter Charcot-Marie-Tooth disease type 2
p.Gln88= Single submitter Charcot-Marie-Tooth disease type 2
p.Glu125= Single submitter Charcot-Marie-Tooth disease type 2
p.Glu253= Single submitter Charcot-Marie-Tooth disease type 2
p.Glu517= Single submitter Charcot-Marie-Tooth disease type 2
p.Glu536= Single submitter Charcot-Marie-Tooth disease type 2
p.Glu735= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly250= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly287= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly303= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly339= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly421= Single submitter
p.Gly582= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly652= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly665= Single submitter Charcot-Marie-Tooth disease type 2
p.His353= Single submitter Charcot-Marie-Tooth disease type 2
p.Ile178= Single submitter Charcot-Marie-Tooth disease type 2
p.Ile341= Single submitter Charcot-Marie-Tooth disease type 2
p.Ile527= Single submitter Charcot-Marie-Tooth disease type 2
p.Ile664= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu105= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu16= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu24= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu280= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu319= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu373= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu392= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu415= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu46= Single submitter
p.Leu469= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu480= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu534= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu565= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu581= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu638= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu69= Single submitter Charcot-Marie-Tooth disease type 2
p.Lys158= Single submitter Charcot-Marie-Tooth disease type 2
p.Lys360= Single submitter Charcot-Marie-Tooth disease type 2
p.Lys510Arg Single submitter Charcot-Marie-Tooth disease type 2
p.Phe169= Single submitter Charcot-Marie-Tooth disease type 2
p.Phe285= Single submitter Charcot-Marie-Tooth disease type 2
p.Phe627= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro2= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro4= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro42Thr Single submitter Charcot-Marie-Tooth disease type 2
p.Pro43= Single submitter Charcot-Marie-Tooth disease
p.Pro47= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro499= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro6= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro703= Single submitter
p.Pro87= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser145= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser237= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser241= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser29= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser335= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser386= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser578= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser617= Single submitter Charcot-Marie-Tooth disease type 2
p.Ter740= Single submitter Charcot-Marie-Tooth disease type 2
p.Thr268= Single submitter Charcot-Marie-Tooth disease type 2
p.Thr300= Single submitter Charcot-Marie-Tooth disease type 2
p.Thr347= Single submitter Charcot-Marie-Tooth disease type 2
p.Thr418= Single submitter Charcot-Marie-Tooth disease type 2
p.Thr476= Single submitter Charcot-Marie-Tooth disease type 2
p.Thr548Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Thr671= Single submitter Charcot-Marie-Tooth disease type 2
p.Thr683= Single submitter Charcot-Marie-Tooth disease type 2
p.Thr685= Single submitter Charcot-Marie-Tooth disease type 2
p.Tyr295= Single submitter Charcot-Marie-Tooth disease type 2
p.Val195= Single submitter Charcot-Marie-Tooth disease type 2
p.Val368= Single submitter
p.Val478= Single submitter
p.Val515= Single submitter Charcot-Marie-Tooth disease type 2
p.Val588= Single submitter Charcot-Marie-Tooth disease type 2
p.Val595= Single submitter Charcot-Marie-Tooth disease type 2
p.Val618= Single submitter Charcot-Marie-Tooth disease type 2
p.Val63= Single submitter Charcot-Marie-Tooth disease type 2
p.Val631= Single submitter Charcot-Marie-Tooth disease type 2
p.Val643= Single submitter Charcot-Marie-Tooth disease type 2
p.Val670= Single submitter Charcot-Marie-Tooth disease type 2
p.Val78= Single submitter Charcot-Marie-Tooth disease type 2
p.Glu739= No assertion criteria GARS1-related disorder

Uncertain significance 454

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

c.1903+1G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.-31C>A Multiple submitters
p.Ala12Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala220Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala255Gly Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala349Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala387Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala38Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala438Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala94Glu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg103Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg13Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg213Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg213His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg27Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg337Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg34Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg34Trp Multiple submitters ⚠
p.Arg388Gly Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg388Trp Multiple submitters spinal muscular atrophy, infantile, James type ⚠
p.Arg391Ser Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg412Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg412His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg430Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg657Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg689Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg693Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg722fs Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg79Ter Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asn403Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn573Lys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp126Asn Multiple submitters neuronopathy, distal hereditary motor, type 5A ⚠
p.Asp135Tyr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp205Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp356Gly Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp370His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp76Gly Multiple submitters Charcot-Marie-Tooth disease type 2
p.Cys231Gly Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gln223Arg Multiple submitters GARS1-related neuropathies ⚠
p.Gln245Lys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gln385Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gln73Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu109Lys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu172_Glu173delinsAspLys Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu240Ala Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu240Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu253Lys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu62Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly143Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly327Ala Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly407Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly460Ala Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly582Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.His221Arg Multiple submitters Charcot-Marie-Tooth disease type 2
p.His682Asn Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile118Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile286Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile504Thr Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile504Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile584Asn Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile654Val Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile664Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile737Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Leu105Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Leu157Phe Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu18Met Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Leu19_Leu20dup Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu246Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Lys102Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Lys219Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Lys484Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Lys553Glu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Met182Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Met1Ile Multiple submitters Charcot-Marie-Tooth disease type 2
p.Met348Arg Multiple submitters Charcot-Marie-Tooth disease type 2D ⚠
p.Met55Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Phe285Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Phe409Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Phe593Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Phe604Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Phe726Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro42Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro43Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro485Leu Multiple submitters Charcot-Marie-Tooth disease type 2D ⚠
p.Pro489Ser Multiple submitters ⚠
p.Pro577Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro620Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro66Ser Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro681Leu Multiple submitters Charcot-Marie-Tooth disease type 2D ⚠
p.Pro703Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ser241Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ser35Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ser35Phe Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ser635= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr541Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Thr587Met Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Thr736Ala Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Tyr134Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Tyr261Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Tyr467Asn Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Tyr566Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Val206Ile Multiple submitters Charcot-Marie-Tooth disease type 2D ⚠
p.Val396Ile Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Val400Met Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
c.1031+6G>T Single submitter Charcot-Marie-Tooth disease type 2
c.1032-6T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1194+2T>G Single submitter
c.1194+3A>C Single submitter neuronopathy, distal hereditary motor, type 5A
c.1359+3A>G Single submitter Charcot-Marie-Tooth disease type 2
c.1468-1C>G Single submitter
c.1613+3A>G Single submitter Charcot-Marie-Tooth disease type 2
c.1614-13T>A Single submitter Charcot-Marie-Tooth disease type 2
c.1699+6T>A Single submitter Charcot-Marie-Tooth disease type 2
c.1700-1G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1809+1G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1903+16T>A Single submitter Charcot-Marie-Tooth disease type 2
c.1903+4_1903+67dup Single submitter Charcot-Marie-Tooth disease type 2
c.1904-3T>A Single submitter Charcot-Marie-Tooth disease type 2
c.1904-5G>A Single submitter
c.222+6G>A Single submitter Charcot-Marie-Tooth disease type 2
c.324+3G>A Single submitter Charcot-Marie-Tooth disease type 2
c.325-2A>G Single submitter Charcot-Marie-Tooth disease type 2
c.427_427+8del Single submitter
c.428-6_432del Single submitter GARS1-related disorder
c.570-8T>G Single submitter Charcot-Marie-Tooth disease type 2
c.658+3G>T Single submitter Charcot-Marie-Tooth disease type 2
c.659-14C>G Single submitter Charcot-Marie-Tooth disease type 2
c.659-15A>G Single submitter Charcot-Marie-Tooth disease type 2
c.659-3del Single submitter Charcot-Marie-Tooth disease type 2
c.882-9_882-4del Single submitter
c.-166T>G Single submitter neuronopathy, distal hereditary motor, type 5A
c.-180G>C Single submitter distal hereditary motor neuropathy
c.-195A>T Single submitter neuronopathy, distal hereditary motor, type 5A
c.-197G>C Single submitter distal hereditary motor neuropathy
c.-1C>A Single submitter
c.-237A>C Single submitter distal hereditary motor neuropathy
c.-36C>T Single submitter distal hereditary motor neuropathy
c.-38G>A Single submitter
c.-45C>T Single submitter
c.-59C>T Single submitter distal hereditary motor neuropathy
c.-64C>T Single submitter neuronopathy, distal hereditary motor, type 5A
c.-69T>G Single submitter neuronopathy, distal hereditary motor, type 5A
c.-80C>T Single submitter distal hereditary motor neuropathy
c.*145C>A Single submitter Charcot-Marie-Tooth disease type 2D
p.Ala100Thr Single submitter ⚠
p.Ala111Thr Single submitter ⚠
p.Ala111Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala14Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala214Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala255Glu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala26fs Single submitter
p.Ala323Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala380Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala447Thr Single submitter Charcot-Marie-Tooth disease type 2D ⚠
p.Ala473Ser Single submitter ⚠
p.Ala482Gly Single submitter Charcot-Marie-Tooth disease type 2
p.Ala49Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala50Ser Single submitter ⚠
p.Ala58Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala612Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala65Glu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala65Val Single submitter Charcot-Marie-Tooth disease type 2
p.Ala684Thr Single submitter ⚠
p.Ala70Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala70Val Single submitter ⚠
p.Ala96Thr Single submitter ⚠
p.Arg101Leu Single submitter ⚠
p.Arg103Thr Single submitter ⚠
p.Arg10Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg121Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg131Lys Single submitter ⚠
p.Arg13Pro Single submitter ⚠
p.Arg166Lys Single submitter spinal muscular atrophy, infantile, James type ⚠
p.Arg23Trp Single submitter ⚠
p.Arg310Gln Single submitter ⚠
p.Arg337Ter Single submitter Charcot-Marie-Tooth disease type 2
p.Arg34Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg391Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg428Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg428Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg430Trp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg464fs Single submitter Charcot-Marie-Tooth disease type 2
p.Arg474Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg474Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg474Ter Single submitter Charcot-Marie-Tooth disease type 2
p.Arg52Gln Single submitter Charcot-Marie-Tooth disease type 2D ⚠
p.Arg52Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg583Lys Single submitter ⚠
p.Arg596Ter Single submitter Charcot-Marie-Tooth disease type 2
p.Arg602Lys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg640Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg657His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg693Trp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg722Ser Single submitter ⚠
p.Asn160Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn160Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn279Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn279Lys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn315Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn328Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn328Ser Single submitter ⚠
p.Asn435Ser Single submitter
p.Asn678Lys Single submitter ⚠
p.Asp116Glu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp116Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp117Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp117Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp126Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp149Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp179Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp205His Single submitter ⚠
p.Asp215Gly Single submitter ⚠
p.Asp228Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp228Glu Single submitter ⚠
p.Asp247Gly Single submitter ⚠
p.Asp356Glu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp370Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp394Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp443Tyr Single submitter ⚠
p.Asp446Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp463Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp511His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp511Val Single submitter ⚠
p.Asp523Gly Single submitter ⚠
p.Asp523Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp56Asn Single submitter ⚠
p.Asp599Glu Single submitter ⚠
p.Asp648Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp649Asn Single submitter ⚠
p.Asp649His Single submitter ⚠
p.Asp673Asn Single submitter ⚠
p.Asp688His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp708Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp718Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp76Asn Single submitter ⚠
p.Asp84Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Cys155Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Cys461Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Cys466Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Cys466Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Cys466Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Cys471Ser Single submitter Charcot-Marie-Tooth disease type 2
p.Cys525Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Cys525Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln113Arg Single submitter ⚠
p.Gln136Lys Single submitter Charcot-Marie-Tooth disease type 2
p.Gln163Arg Single submitter ⚠
p.Gln174Glu Single submitter ⚠
p.Gln251Glu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln325Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln381His Single submitter Charcot-Marie-Tooth disease type 2D ⚠
p.Gln385His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln398Ter Single submitter
p.Gln431Lys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln496Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln601Arg Single submitter Charcot-Marie-Tooth disease type 2
p.Gln707His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln88Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu125Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu177Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu186Gly Single submitter
p.Glu210Ter Single submitter Charcot-Marie-Tooth disease type 2
p.Glu234Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu240Gly Single submitter ⚠
p.Glu299Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu483Lys Single submitter Charcot-Marie-Tooth disease type 2
p.Glu531Ala Single submitter Charcot-Marie-Tooth disease type 2
p.Glu531Gly Single submitter Charcot-Marie-Tooth disease type 2
p.Glu539Asp Single submitter ⚠
p.Glu590= Single submitter Charcot-Marie-Tooth disease type 2D
p.Glu597del Single submitter Charcot-Marie-Tooth disease type 2
p.Glu61Gln Single submitter ⚠
p.Glu720Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu730Gln Single submitter Charcot-Marie-Tooth disease type 2
p.Glu739Lys Single submitter ⚠
p.Gly11Ser Single submitter ⚠
p.Gly146Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly154Ser Single submitter ⚠
p.Gly193Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly269Glu Single submitter ⚠
p.Gly289Glu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly327Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly538Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly546Glu Single submitter ⚠
p.Gly57Asp Single submitter Charcot-Marie-Tooth disease type 2
p.Gly582Asn Single submitter Charcot-Marie-Tooth disease type 2
p.Gly582Ser Single submitter ⚠
p.Gly59Glu Single submitter ⚠
p.Gly652Glu Single submitter ⚠
p.Gly655Arg Single submitter ⚠
p.Gly669Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly728Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.His216Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.His353Gln Single submitter distal hereditary motor neuropathy ⚠
p.His439Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.His591Tyr Single submitter ⚠
p.His594Tyr Single submitter ⚠
p.His641Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.His645Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile118Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠