FIG4 — 1128 ClinVar variants

All ClinVar germline FIG4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 392 flagged for review →

67 Pathogenic · 18 Pathogenic/Likely pathogenic · 41 Likely pathogenic · 49 Conflicting · 60 Benign · 21 Benign/Likely benign · 415 Likely benign · 457 Uncertain significance

Full FIG4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 392

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.

FIG4 p.Ala350Val Pathogenic No assertion criteria
amyotrophic lateral sclerosis type 11

Predictors agree, ClinVar conflicts 15

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

FIG4 p.Arg483Gln Conflicting Single submitter
amyotrophic lateral sclerosis
FIG4 p.Arg492Cys Conflicting Single submitter
FIG4-related disorder
FIG4 p.Arg867Gly Conflicting Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Glu302Lys Conflicting Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Gly214Arg Conflicting Single submitter
Inborn genetic diseases
FIG4 p.Ile220Val Conflicting Single submitter
Charcot-Marie-Tooth disease
FIG4 p.Leu179Phe Conflicting Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Ser276Phe Conflicting Single submitter
FIG4-related disorder
FIG4 p.Ser91Leu Conflicting Single submitter
Inborn genetic diseases
FIG4 p.Thr627Lys Conflicting Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Tyr169Ser Conflicting Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Val794Met Conflicting Single submitter
Inborn genetic diseases
FIG4 p.Asp53Tyr Conflicting No assertion criteria
amyotrophic lateral sclerosis
FIG4 p.Gly104Asp Conflicting No assertion criteria
amyotrophic lateral sclerosis
FIG4 p.Leu175Pro Conflicting No assertion criteria
amyotrophic lateral sclerosis

Predictors lean, ClinVar uncertain 286

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 286

FIG4 p.Ala308Val Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Ala396Gly Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Ala396Val Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Ala5Val Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Ala6Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Ala89Val Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Arg141Trp Uncertain significance Multiple submitters
amyotrophic lateral sclerosis
FIG4 p.Arg183Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg197Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Arg244Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Arg283Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4J
FIG4 p.Arg283His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg325Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg37Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4J
FIG4 p.Arg43Ile Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Arg450Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg450His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg459Gln Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Arg679Gln Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Arg699His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 11
FIG4 p.Arg88Gln Uncertain significance Multiple submitters
FIG4 p.Asn162Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Asn519Asp Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Asp138Gly Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Asp351His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Asp613Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Asp719Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Cys291Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Cys652Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Gln195Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Gln823His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Gln864Arg Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Glu128Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Glu187Lys Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Glu602Lys Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Glu752Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Gly216Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Gly445Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
FIG4 p.Gly603Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Gly68Ser Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Gly94Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.His122Arg Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.His409Asn Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.His665Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Ile107Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Ile110Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Ile133Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Ile673Asn Uncertain significance Multiple submitters
Yunis-Varon syndrome
FIG4 p.Ile817Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Ile875Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Ile880Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Ile902Val Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Leu390Val Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Leu39Ser Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Lys502Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Lys568Arg Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Lys780Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Met226Val Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Met364Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Met364Lys Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Met694Val Uncertain significance Multiple submitters
FIG4-related disorder
FIG4 p.Met887Thr Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Met897Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 11
FIG4 p.Phe598Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Phe815Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Phe815Ser Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 11
FIG4 p.Pro407Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Pro626Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Pro718Ala Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Pro748Ser Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Pro851Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4J
FIG4 p.Ser240Thr Uncertain significance Multiple submitters
FIG4-related disorder
FIG4 p.Ser312Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Ser333Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Ser439Asn Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Ser776Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Ser787Asn Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Ser84Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Ser853Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Ser856Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Ser896Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Thr211Ile Uncertain significance Multiple submitters
FIG4 p.Thr270Ile Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Thr338Ala Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Thr3Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Thr410Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Thr612Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
FIG4 p.Thr627Ala Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Thr705Ala Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Thr741Met Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Thr777Pro Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Tyr150Cys Uncertain significance Multiple submitters
FIG4-related disorder
FIG4 p.Tyr169Cys Uncertain significance Multiple submitters
FIG4-related disorder
FIG4 p.Tyr18Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Tyr18His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Tyr36Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Tyr647Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Tyr802Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Val27Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Val38Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Val706Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Val99Phe Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Ala289Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Ala308Gly Uncertain significance Single submitter
FIG4 p.Ala357Thr Uncertain significance Single submitter
FIG4 p.Ala698Thr Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Ala735Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Ala745Gly Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Arg100Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg114Gly Uncertain significance Single submitter
FIG4 p.Arg149Gly Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Arg149Thr Uncertain significance Single submitter
FIG4 p.Arg197His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg197Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg21Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg23Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg244His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg367Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg37His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg450Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg553Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg629Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg766Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg766Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg766Trp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg775Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg775His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg867Thr Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Arg905His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asn178Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asn30Thr Uncertain significance Single submitter
FIG4 p.Asn519Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asn592Ser Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Asn728Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asn731Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asn74Lys Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Asn74Ser Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Asn793Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asp138Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asp202Asn Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Asp362Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asp42Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asp452Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asp516Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asp53Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asp584Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asp687Gly Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Asp832Glu Uncertain significance Single submitter
Yunis-Varon syndrome
FIG4 p.Asp869Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asp894Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4

Predictors split 90

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

FIG4 p.Arg265Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg476His Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Arg679Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg69Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Arg69His Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Arg716Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg716His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg820Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4J
FIG4 p.Arg88Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg905Cys Uncertain significance Multiple submitters
Yunis-Varon syndrome
FIG4 p.Asp307Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Cys255Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Gln13Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Glu103Asp Uncertain significance Multiple submitters
FIG4 p.Glu734Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Gly469Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Gly82Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Gly885Val Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Lys259Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Lys717Glu Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Met132Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Phe101Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Phe598Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Phe664Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FIG4 p.Phe690Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Thr270Ala Benign/Likely benign Multiple submitters
Charcot-Marie-Tooth disease
FIG4 p.Thr59Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Tyr134Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
FIG4 p.Ala117Val Conflicting Single submitter
amyotrophic lateral sclerosis type 11
FIG4 p.Ala419Ser Uncertain significance Single submitter
FIG4 p.Ala561Thr Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Ala882Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg152Gln Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Arg21Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg388Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Arg699Gly Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Arg739Trp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asn290Asp Uncertain significance Single submitter
FIG4 p.Asp118Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asp525Glu Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Asp525Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asp589His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Asp672Tyr Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Glu19Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Glu298Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Glu438Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Gly468Glu Uncertain significance Single submitter
FIG4 p.Gly475Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Gly707Arg Uncertain significance Single submitter
bilateral parasagittal parieto-occipital polymicrogyria
FIG4 p.Gly79Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4J
FIG4 p.Ile133Thr Uncertain significance Single submitter
FIG4 p.Ile372Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Ile374Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease
FIG4 p.Ile560Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Ile570Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Ile902Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Leu182Ser Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Leu683Ser Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Lys278Asn Conflicting Single submitter
Inborn genetic diseases
FIG4 p.Met132Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4J
FIG4 p.Met694Ile Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Phe446Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Phe522Cys Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Phe677Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Pro145Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Pro185Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Pro224Leu Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Pro224Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 11
FIG4 p.Pro46Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Pro46Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Pro600Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Pro866Arg Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Ser684Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Ser816Pro Uncertain significance Single submitter
FIG4 p.Thr180Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Thr444Ser Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Thr540Ile Uncertain significance Single submitter
amyotrophic lateral sclerosis type 11
FIG4 p.Thr873Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Tyr321Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Tyr906His Uncertain significance Single submitter
FIG4 p.Val12Ala Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Val269Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Val356Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Val487Ala Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Val551Ala Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Val57Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
FIG4 p.Val715Gly Uncertain significance Single submitter
Inborn genetic diseases
FIG4 p.Asp783Val Conflicting No assertion criteria
bilateral parasagittal parieto-occipital polymicrogyria
FIG4 p.Glu676Gly Uncertain significance No assertion criteria
Yunis-Varon syndrome
FIG4 p.Phe279Leu Uncertain significance No assertion criteria
amyotrophic lateral sclerosis

All FIG4 variants

Pathogenic 67

c.2459+1G>A Multiple submitters Inborn genetic diseases
p.Arg381Ter Multiple submitters Inborn genetic diseases
p.Arg432Ter Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg88Ter Multiple submitters Charcot-Marie-Tooth disease type 4
p.Gln403Ter Multiple submitters Charcot-Marie-Tooth disease type 4
p.Gln738Ter Multiple submitters Charcot-Marie-Tooth disease type 4
p.Leu458fs Multiple submitters FIG4-related disorder
p.Leu643Ter Multiple submitters Inborn genetic diseases
p.Lys278fs Multiple submitters Inborn genetic diseases
p.Phe254fs Multiple submitters Charcot-Marie-Tooth disease type 4
p.Pro605fs Multiple submitters Inborn genetic diseases
p.Ser750fs Multiple submitters amyotrophic lateral sclerosis type 11
p.Ser762fs Multiple submitters Charcot-Marie-Tooth disease type 4
p.Trp246Ter Multiple submitters Inborn genetic diseases
p.Tyr177Ter Multiple submitters Inborn genetic diseases
c.2097-809A>G Single submitter Yunis-Varon syndrome
c.2180+1del Single submitter Charcot-Marie-Tooth disease type 4
c.290-2A>G Single submitter Charcot-Marie-Tooth disease type 4J
p.Arg69fs Single submitter Charcot-Marie-Tooth disease type 4
p.Asn402fs Single submitter Charcot-Marie-Tooth disease type 4
p.Asp348fs Single submitter Charcot-Marie-Tooth disease type 4
p.Cys691fs Single submitter Charcot-Marie-Tooth disease type 4
p.Gln155Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gln366Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gln572Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gln588Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Glu128Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Glu62Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Glu720fs Single submitter
p.Glu768Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gly513fs Single submitter Charcot-Marie-Tooth disease type 4
p.His409fs Single submitter Charcot-Marie-Tooth disease type 4
p.Ile262fs Single submitter Charcot-Marie-Tooth disease type 4
p.Ile52fs Single submitter Charcot-Marie-Tooth disease type 4
p.Ile8fs Single submitter Charcot-Marie-Tooth disease type 4
p.Leu186fs Single submitter Charcot-Marie-Tooth disease type 4
p.Leu482fs Single submitter Charcot-Marie-Tooth disease type 4
p.Leu490Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Leu726fs Single submitter Charcot-Marie-Tooth disease type 4
p.Lys379fs Single submitter Charcot-Marie-Tooth disease type 4
p.Lys383fs Single submitter Charcot-Marie-Tooth disease type 4
p.Lys443Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Lys559Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Lys663fs Single submitter Charcot-Marie-Tooth disease type 4
p.Lys740fs Single submitter Charcot-Marie-Tooth disease type 4
p.Met1_Ala6del Single submitter Charcot-Marie-Tooth disease type 4
p.Met1Leu Single submitter Charcot-Marie-Tooth disease type 4
p.Met1Val Single submitter Charcot-Marie-Tooth disease type 4
p.Phe686fs Single submitter Charcot-Marie-Tooth disease type 4
p.Phe98fs Single submitter Yunis-Varon syndrome
p.Pro611fs Single submitter Charcot-Marie-Tooth disease type 4
p.Ser240fs Single submitter
p.Ser730fs Single submitter
p.Ser811fs Single submitter Charcot-Marie-Tooth disease type 4
p.Thr601fs Single submitter Charcot-Marie-Tooth disease
p.Thr721fs Single submitter Charcot-Marie-Tooth disease type 4
p.Trp332Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Trp563Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Trp635Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Tyr164fs Single submitter Charcot-Marie-Tooth disease type 4
p.Tyr167Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Tyr36Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Tyr421Ter Single submitter
p.Tyr681Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Val471fs Single submitter Charcot-Marie-Tooth disease type 4
c.775+1G>A No assertion criteria Yunis-Varon syndrome
p.Ala350Val No assertion criteria amyotrophic lateral sclerosis type 11 ⚠

Pathogenic/Likely pathogenic 18

c.1750+1del Multiple submitters Charcot-Marie-Tooth disease type 4
c.1949-10T>G Multiple submitters Charcot-Marie-Tooth disease type 4
c.877-2A>C Multiple submitters FIG4-related disorder
p.Arg152Ter Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg183Ter Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg265Ter Multiple submitters Charcot-Marie-Tooth disease type 4J
p.Arg384fs Multiple submitters Charcot-Marie-Tooth disease
p.Arg483Ter Multiple submitters Charcot-Marie-Tooth disease type 4
p.Gln198Ter Multiple submitters Inborn genetic diseases
p.Gln796Ter Multiple submitters Charcot-Marie-Tooth disease type 4
p.Gln823Ter Multiple submitters FIG4-related disorder
p.Glu767fs Multiple submitters Inborn genetic diseases
p.Ile41Thr Multiple submitters Charcot-Marie-Tooth disease type 4J
p.Ser258Ter Multiple submitters Charcot-Marie-Tooth disease type 4J
p.Thr556fs Multiple submitters FIG4-related disorder
p.Thr689fs Multiple submitters Charcot-Marie-Tooth disease type 4
p.Tyr106fs Multiple submitters Charcot-Marie-Tooth disease type 4
p.Tyr413_Ile414delinsTer Multiple submitters Inborn genetic diseases

Likely pathogenic 41

c.1040-1G>A Multiple submitters Yunis-Varon syndrome
c.1584-1G>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.1749_1750+7del Multiple submitters Charcot-Marie-Tooth disease type 4
c.1948+1G>A Multiple submitters Charcot-Marie-Tooth disease type 4
c.2376+2T>G Multiple submitters amyotrophic lateral sclerosis type 11
c.1138-1G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1271+1G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1388+1G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1388+2T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1389-1G>C Single submitter Inborn genetic diseases
c.1389-2A>G Single submitter Charcot-Marie-Tooth disease type 4J
c.1434+1G>T Single submitter Yunis-Varon syndrome
c.165+2T>G Single submitter Charcot-Marie-Tooth disease type 4
c.1750+1G>T Single submitter Charcot-Marie-Tooth disease type 4
c.1889+1G>T Single submitter
c.1890-2A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1949-533A>G Single submitter Charcot-Marie-Tooth disease type 4J
c.2376+1G>A Single submitter Charcot-Marie-Tooth disease type 4
c.289+2T>C Single submitter Inborn genetic diseases
c.290-1G>C Single submitter Charcot-Marie-Tooth disease type 4
c.290-2A>T Single submitter Charcot-Marie-Tooth disease type 4J
c.446+2T>C Single submitter Charcot-Marie-Tooth disease type 4J
c.447-1G>C Single submitter FIG4-related disorder
c.447-2A>C Single submitter Charcot-Marie-Tooth disease type 4
c.498-2A>G Single submitter Charcot-Marie-Tooth disease type 4
c.647-2_647-1insG Single submitter amyotrophic lateral sclerosis type 11
c.67-1G>A Single submitter Charcot-Marie-Tooth disease type 4
c.876+2T>G Single submitter Charcot-Marie-Tooth disease type 4
p.Ala280fs Single submitter
p.Arg384Ter Single submitter amyotrophic lateral sclerosis type 11
p.Arg492Pro Single submitter Cerebral hypomyelination
p.Gln565Ter Single submitter
p.Glu192fs Single submitter FIG4-related disorder
p.Gly288Asp Single submitter
p.Gly727Ter Single submitter
p.Leu529_Phe530insTer Single submitter
p.Lys657fs Single submitter
p.Ser811Ter Single submitter Severe global developmental delay
p.Thr444fs Single submitter
p.Asn231Asp No assertion criteria bilateral parasagittal parieto-occipital polymicrogyria
p.Gln774fs No assertion criteria FIG4-related disorder

Conflicting classifications of pathogenicity 49

c.1271+5A>G Single submitter Inborn genetic diseases
c.1272-10C>G Single submitter Charcot-Marie-Tooth disease type 4
c.1389-5C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1583+3A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1584-8T>A Single submitter Charcot-Marie-Tooth disease
c.165+2T>C Single submitter Inborn genetic diseases
c.1751-16A>G Single submitter Charcot-Marie-Tooth disease type 4
c.2097-10C>G Single submitter Charcot-Marie-Tooth disease
c.2376+9G>A Single submitter Charcot-Marie-Tooth disease type 4
c.2377-5C>T Single submitter Inborn genetic diseases
c.2459+5G>A Single submitter Charcot-Marie-Tooth disease type 4
c.2460-2A>G Single submitter Charcot-Marie-Tooth disease type 4
c.2547-11A>G Single submitter Charcot-Marie-Tooth disease type 4
c.2547-1G>A Single submitter Inborn genetic diseases
c.2547-4A>G Single submitter Charcot-Marie-Tooth disease type 4
c.2547-5T>G Single submitter Inborn genetic diseases
c.446+9G>A Single submitter Charcot-Marie-Tooth disease type 4J
c.498-13A>G Single submitter Charcot-Marie-Tooth disease
c.876+8G>A Single submitter Charcot-Marie-Tooth disease type 4
p.Ala117Val Single submitter amyotrophic lateral sclerosis type 11 ⚠
p.Arg483Gln Single submitter amyotrophic lateral sclerosis ⚠
p.Arg492Cys Single submitter FIG4-related disorder ⚠
p.Arg867Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn494= Single submitter amyotrophic lateral sclerosis type 11
p.Glu302Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu813del Single submitter Charcot-Marie-Tooth disease type 4
p.Gly214Arg Single submitter Inborn genetic diseases ⚠
p.Ile220Val Single submitter Charcot-Marie-Tooth disease ⚠
p.Leu179Phe Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Leu248= Single submitter Charcot-Marie-Tooth disease
p.Leu890= Single submitter Charcot-Marie-Tooth disease type 4
p.Lys278Asn Single submitter Inborn genetic diseases ⚠
p.Lys81= Single submitter Charcot-Marie-Tooth disease type 4
p.Pro718= Single submitter Charcot-Marie-Tooth disease type 4
p.Ser11= Single submitter Inborn genetic diseases
p.Ser276Phe Single submitter FIG4-related disorder ⚠
p.Ser684= Single submitter Charcot-Marie-Tooth disease type 4
p.Ser856= Single submitter Charcot-Marie-Tooth disease type 4
p.Ser91Leu Single submitter Inborn genetic diseases ⚠
p.Thr621= Single submitter Charcot-Marie-Tooth disease type 4
p.Thr627Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Tyr134Ser Single submitter Charcot-Marie-Tooth disease
p.Tyr169Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Val794Met Single submitter Inborn genetic diseases ⚠
p.Asp53Tyr No assertion criteria amyotrophic lateral sclerosis ⚠
p.Asp783Val No assertion criteria bilateral parasagittal parieto-occipital polymicrogyria ⚠
p.Gly104Asp No assertion criteria amyotrophic lateral sclerosis ⚠
p.Leu175Pro No assertion criteria amyotrophic lateral sclerosis ⚠
p.Thr422fs No assertion criteria Yunis-Varon syndrome

Benign 60

c.1271+32G>A Multiple submitters
c.1948+46C>A Multiple submitters Yunis-Varon syndrome
c.2377-10del Multiple submitters Charcot-Marie-Tooth disease type 4
c.446+32dup Multiple submitters Charcot-Marie-Tooth disease
c.-120C>T Multiple submitters Charcot-Marie-Tooth disease type 4J
c.-121G>A Multiple submitters Charcot-Marie-Tooth disease type 4J
c.*120C>T Multiple submitters Charcot-Marie-Tooth disease type 4J
c.*29G>A Multiple submitters Charcot-Marie-Tooth disease type 4J
c.*7C>T Multiple submitters Charcot-Marie-Tooth disease type 4J
p.Val654Ala Multiple submitters Charcot-Marie-Tooth disease
c.1040-98T>G Single submitter
c.1137+111G>A Single submitter
c.1137+77_1137+79del Single submitter
c.1138-175G>T Single submitter
c.1138-8dup Single submitter Charcot-Marie-Tooth disease type 4
c.1272-238C>T Single submitter
c.1434+181G>T Single submitter
c.1434+238T>C Single submitter
c.1434+72A>G Single submitter
c.1435-117TTTTTG[5] Single submitter
c.1435-117TTTTTG[8] Single submitter
c.1435-256T>C Single submitter
c.1583+16dup Single submitter Charcot-Marie-Tooth disease type 4
c.1584-315G>A Single submitter
c.1584-317T>C Single submitter
c.1584-84T>A Single submitter
c.165+100A>T Single submitter
c.1751-334T>A Single submitter
c.1890-101G>T Single submitter
c.1948+56T>C Single submitter
c.1949-121G>A Single submitter
c.1949-308G>A Single submitter
c.2097-243A>C Single submitter
c.2180+63G>T Single submitter
c.2376+9dup Single submitter Charcot-Marie-Tooth disease type 4
c.2377-12_2377-10del Single submitter Charcot-Marie-Tooth disease type 4
c.2459+22A>G Single submitter
c.2459+90_2459+91del Single submitter
c.2459+91del Single submitter
c.2460-127C>T Single submitter
c.2460-252A>G Single submitter
c.2460-38C>T Single submitter
c.289+151A>G Single submitter
c.289+18del Single submitter Charcot-Marie-Tooth disease type 4
c.289+18dup Single submitter Charcot-Marie-Tooth disease type 4
c.289+331G>A Single submitter
c.290-147C>T Single submitter
c.447-119T>G Single submitter
c.447-5_447-3dup Single submitter Charcot-Marie-Tooth disease type 4
c.447-564T>C Single submitter Charcot-Marie-Tooth disease type 4
c.497+227T>A Single submitter
c.497+246T>C Single submitter
c.647-10del Single submitter Charcot-Marie-Tooth disease type 4
c.647-4del Single submitter Charcot-Marie-Tooth disease type 4
c.67-165T>C Single submitter
c.775+20del Single submitter Charcot-Marie-Tooth disease type 4
c.775+298G>A Single submitter
c.776-96G>T Single submitter
c.876+126T>G Single submitter
c.877-54_877-50del Single submitter

Benign/Likely benign 21

c.1948+3A>G Multiple submitters amyotrophic lateral sclerosis type 11
c.2377-11_2377-10del Multiple submitters Charcot-Marie-Tooth disease type 4
c.2377-19T>C Multiple submitters Charcot-Marie-Tooth disease
c.2377-20_2377-19insC Multiple submitters Charcot-Marie-Tooth disease
c.447-16G>T Multiple submitters amyotrophic lateral sclerosis type 11
c.447-17dup Multiple submitters Charcot-Marie-Tooth disease
c.447-3del Multiple submitters Charcot-Marie-Tooth disease type 4
c.447-3dup Multiple submitters Charcot-Marie-Tooth disease
c.447-4_447-3dup Multiple submitters Charcot-Marie-Tooth disease
c.497+7G>A Multiple submitters Charcot-Marie-Tooth disease type 4
c.647-18C>A Multiple submitters Charcot-Marie-Tooth disease
c.66+10C>T Multiple submitters Charcot-Marie-Tooth disease
c.67-7T>C Multiple submitters Charcot-Marie-Tooth disease
c.-182G>A Multiple submitters Charcot-Marie-Tooth disease type 4J
c.*14C>T Multiple submitters Charcot-Marie-Tooth disease
p.Ile414= Multiple submitters Inborn genetic diseases
p.Ile9= Multiple submitters Inborn genetic diseases
p.Leu209= Multiple submitters Inborn genetic diseases
p.Ser853= Multiple submitters Charcot-Marie-Tooth disease
p.Thr270Ala Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Tyr58Cys Multiple submitters Inborn genetic diseases

Likely benign 415

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

c.1040-4T>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.1272-10C>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.1434+54G>A Multiple submitters
c.1583+20A>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.165+18C>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.1750+11A>C Multiple submitters Charcot-Marie-Tooth disease
c.1889+6_1889+11dup Multiple submitters Charcot-Marie-Tooth disease type 4
c.1890-17T>A Multiple submitters Charcot-Marie-Tooth disease type 4
c.1949-148A>G Multiple submitters
c.1949-15C>T Multiple submitters Charcot-Marie-Tooth disease
c.2097-10C>T Multiple submitters Charcot-Marie-Tooth disease
c.2180+20C>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.2377-18T>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.2377-71T>G Multiple submitters
c.2459+14A>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.2459+7T>G Multiple submitters Charcot-Marie-Tooth disease
c.2460-17T>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.2546+17A>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.289+17C>A Multiple submitters Charcot-Marie-Tooth disease type 4
c.289+17C>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.447-16delinsTT Multiple submitters Charcot-Marie-Tooth disease
c.497+14T>G Multiple submitters Charcot-Marie-Tooth disease type 4
c.497+61G>A Multiple submitters
c.647-48C>T Multiple submitters
c.66+13dup Multiple submitters Charcot-Marie-Tooth disease type 4
c.66+18G>A Multiple submitters Charcot-Marie-Tooth disease
c.876+7_876+13dup Multiple submitters Charcot-Marie-Tooth disease type 4
c.-365A>G Multiple submitters
p.Ala89= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg100= Multiple submitters Charcot-Marie-Tooth disease
p.Arg450= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg739= Multiple submitters Inborn genetic diseases
p.Arg775= Multiple submitters Inborn genetic diseases
p.Arg841= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Asn290= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Asn580= Multiple submitters Inborn genetic diseases
p.Asp452= Multiple submitters Charcot-Marie-Tooth disease
p.Asp814= Multiple submitters Inborn genetic diseases
p.Cys306= Multiple submitters Charcot-Marie-Tooth disease
p.Gln796= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Glu733= Multiple submitters Inborn genetic diseases
p.Gly603= Multiple submitters Inborn genetic diseases
p.Gly763= Multiple submitters Charcot-Marie-Tooth disease type 4
p.His122= Multiple submitters Inborn genetic diseases
p.His386= Multiple submitters Inborn genetic diseases
p.Ile372= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Leu509= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Lys14= Multiple submitters Charcot-Marie-Tooth disease
p.Lys239= Multiple submitters Inborn genetic diseases
p.Lys35= Multiple submitters Charcot-Marie-Tooth disease
p.Lys604= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Phe254= Multiple submitters Inborn genetic diseases
p.Phe447= Multiple submitters Charcot-Marie-Tooth disease
p.Pro46= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Pro562= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Pro746= Multiple submitters Inborn genetic diseases
p.Pro747= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ser590= Multiple submitters Inborn genetic diseases
p.Ser744= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ser750= Multiple submitters Inborn genetic diseases
p.Ser773= Multiple submitters Charcot-Marie-Tooth disease
p.Ser84= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Thr34= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Thr493= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Thr540= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Tyr18= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Tyr263= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Tyr802= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Val435= Multiple submitters Charcot-Marie-Tooth disease
p.Val794= Multiple submitters Charcot-Marie-Tooth disease type 4
c.1039+13A>G Single submitter
c.1039+14T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1039+7G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1039+8G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1040-16C>G Single submitter Charcot-Marie-Tooth disease type 4
c.1040-17T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1040-18A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1137+10G>A Single submitter
c.1137+12T>G Single submitter Charcot-Marie-Tooth disease type 4
c.1137+14A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1137+8G>T Single submitter Charcot-Marie-Tooth disease type 4
c.1138-18G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1138-20A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1138-284A>G Single submitter
c.1138-291G>A Single submitter
c.1138-45A>T Single submitter
c.1138-6A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1138-7G>T Single submitter Charcot-Marie-Tooth disease type 4
c.1271+10dup Single submitter Charcot-Marie-Tooth disease type 4
c.1271+11C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1271+16C>T Single submitter
c.1271+7G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1271+9T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1272-14C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1272-16T>C Single submitter
c.1272-20A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1272-7T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1272-8C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1388+10G>C Single submitter Charcot-Marie-Tooth disease type 4
c.1388+7A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1389-15T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1389-18G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1389-19T>G Single submitter Charcot-Marie-Tooth disease type 4
c.1389-209T>G Single submitter
c.1389-4A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1434+16C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1434+18A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1434+20T>A Single submitter Charcot-Marie-Tooth disease type 4
c.1434+7A>C Single submitter Charcot-Marie-Tooth disease type 4
c.1435-117TTTTTG[7] Single submitter
c.1435-4T>G Single submitter Charcot-Marie-Tooth disease type 4
c.1435-6C>G Single submitter Charcot-Marie-Tooth disease type 4
c.1435-8C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1583+19T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1583+20A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1583+7C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1584-10C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1584-10del Single submitter Charcot-Marie-Tooth disease type 4
c.1584-14T>G Single submitter Charcot-Marie-Tooth disease type 4
c.1584-16G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1584-18G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1584-19C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1584-30A>C Single submitter
c.1584-9T>C Single submitter Charcot-Marie-Tooth disease type 4
c.165+10C>T Single submitter Charcot-Marie-Tooth disease type 4
c.165+17C>T Single submitter Charcot-Marie-Tooth disease type 4
c.165+228C>T Single submitter
c.165+8T>C Single submitter Charcot-Marie-Tooth disease type 4
c.166-10T>C Single submitter Charcot-Marie-Tooth disease type 4
c.166-11C>A Single submitter Charcot-Marie-Tooth disease type 4
c.166-11C>G Single submitter Charcot-Marie-Tooth disease type 4
c.166-14G>C Single submitter Charcot-Marie-Tooth disease type 4
c.166-14G>T Single submitter Charcot-Marie-Tooth disease type 4
c.166-16A>T Single submitter Charcot-Marie-Tooth disease type 4
c.166-7T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1751-17T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1751-294A>G Single submitter
c.1751-3del Single submitter
c.1751-7T>A Single submitter Charcot-Marie-Tooth disease type 4
c.1889+309T>C Single submitter
c.1890-16A>T Single submitter Charcot-Marie-Tooth disease type 4
c.1890-18T>A Single submitter Charcot-Marie-Tooth disease type 4
c.1890-4A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1890-5T>A Single submitter Charcot-Marie-Tooth disease type 4
c.1890-5T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1948+10T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1948+11_1948+12del Single submitter Charcot-Marie-Tooth disease type 4
c.1948+13_1948+16del Single submitter Charcot-Marie-Tooth disease type 4
c.1949-10T>A Single submitter Charcot-Marie-Tooth disease type 4
c.1949-10TC[2] Single submitter Charcot-Marie-Tooth disease type 4
c.1949-12T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1949-16G>T Single submitter Charcot-Marie-Tooth disease type 4
c.1949-18A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1949-19C>G Single submitter Charcot-Marie-Tooth disease type 4
c.1949-5C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1949-7C>A Single submitter Charcot-Marie-Tooth disease type 4
c.1949-9C>A Single submitter
c.2096+10G>A Single submitter Charcot-Marie-Tooth disease type 4
c.2096+10G>T Single submitter Charcot-Marie-Tooth disease type 4
c.2096+11T>C Single submitter Charcot-Marie-Tooth disease type 4
c.2096+16T>A Single submitter Charcot-Marie-Tooth disease type 4
c.2096+7T>G Single submitter Charcot-Marie-Tooth disease type 4
c.2096+8G>A Single submitter Charcot-Marie-Tooth disease type 4
c.2096+9T>C Single submitter Charcot-Marie-Tooth disease type 4
c.2097-217C>T Single submitter
c.2180+8T>A Single submitter Charcot-Marie-Tooth disease type 4
c.2181-10C>A Single submitter Charcot-Marie-Tooth disease type 4
c.2181-13A>G Single submitter Charcot-Marie-Tooth disease type 4
c.2181-18A>G Single submitter Charcot-Marie-Tooth disease type 4
c.2376+13G>A Single submitter Charcot-Marie-Tooth disease type 4
c.2376+16G>T Single submitter Charcot-Marie-Tooth disease type 4
c.2376+8G>A Single submitter Charcot-Marie-Tooth disease type 4
c.2377-10T>A Single submitter Charcot-Marie-Tooth disease type 4
c.2377-12T>C Single submitter Charcot-Marie-Tooth disease type 4
c.2377-13_2377-10del Single submitter Charcot-Marie-Tooth disease type 4
c.2377-19_2377-18insC Single submitter Charcot-Marie-Tooth disease type 4
c.2377-20_2377-19insCT Single submitter Charcot-Marie-Tooth disease
c.2377-6C>A Single submitter Charcot-Marie-Tooth disease type 4
c.2377-6C>T Single submitter Charcot-Marie-Tooth disease type 4
c.2377-7del Single submitter Charcot-Marie-Tooth disease type 4
c.2459+12T>C Single submitter Charcot-Marie-Tooth disease type 4
c.2459+16G>A Single submitter Charcot-Marie-Tooth disease type 4
c.2459+20A>C Single submitter Charcot-Marie-Tooth disease type 4
c.2459+59C>T Single submitter
c.2459+6_2459+8dup Single submitter Charcot-Marie-Tooth disease type 4
c.2459+7T>C Single submitter Charcot-Marie-Tooth disease type 4
c.2459+8A>G Single submitter Charcot-Marie-Tooth disease type 4
c.2460-10T>C Single submitter Charcot-Marie-Tooth disease type 4
c.2460-14A>G Single submitter Charcot-Marie-Tooth disease type 4
c.2460-14A>T Single submitter Charcot-Marie-Tooth disease type 4
c.2546+10A>G Single submitter Charcot-Marie-Tooth disease type 4
c.2546+11G>T Single submitter Charcot-Marie-Tooth disease type 4
c.2546+158C>T Single submitter
c.2546+16G>A Single submitter Charcot-Marie-Tooth disease type 4
c.2546+19C>G Single submitter Charcot-Marie-Tooth disease type 4
c.2547-12C>T Single submitter Charcot-Marie-Tooth disease type 4
c.289+10C>A Single submitter Charcot-Marie-Tooth disease type 4
c.289+13C>A Single submitter Charcot-Marie-Tooth disease type 4
c.289+13C>T Single submitter Charcot-Marie-Tooth disease type 4
c.289+16C>T Single submitter Charcot-Marie-Tooth disease type 4
c.289+19T>G Single submitter Charcot-Marie-Tooth disease type 4
c.289+280A>G Single submitter
c.290-15T>A Single submitter Charcot-Marie-Tooth disease type 4
c.290-17T>C Single submitter
c.290-20C>T Single submitter Charcot-Marie-Tooth disease type 4
c.290-5C>T Single submitter Charcot-Marie-Tooth disease type 4
c.290-7del Single submitter Charcot-Marie-Tooth disease type 4
c.446+13G>T Single submitter Charcot-Marie-Tooth disease type 4
c.446+16A>G Single submitter Charcot-Marie-Tooth disease type 4
c.446+18T>C Single submitter Charcot-Marie-Tooth disease type 4
c.446+20C>T Single submitter Charcot-Marie-Tooth disease type 4
c.446+21dup Single submitter Charcot-Marie-Tooth disease type 4
c.446+7A>G Single submitter Charcot-Marie-Tooth disease type 4
c.447-10_447-9insC Single submitter Charcot-Marie-Tooth disease type 4
c.447-14_447-13insG Single submitter Charcot-Marie-Tooth disease type 4
c.447-15T>G Single submitter Charcot-Marie-Tooth disease type 4
c.447-16_447-13del Single submitter Charcot-Marie-Tooth disease type 4
c.447-16_447-14del Single submitter Charcot-Marie-Tooth disease type 4
c.447-16_447-15insCT Single submitter Charcot-Marie-Tooth disease type 4
c.447-16del Single submitter Charcot-Marie-Tooth disease type 4
c.447-18_447-17del Single submitter Charcot-Marie-Tooth disease type 4
c.447-18_447-17dup Single submitter Charcot-Marie-Tooth disease type 4
c.447-19T>C Single submitter Charcot-Marie-Tooth disease type 4
c.497+10A>T Single submitter Charcot-Marie-Tooth disease type 4
c.497+11G>A Single submitter Charcot-Marie-Tooth disease type 4
c.497+175A>T Single submitter
c.497+9G>A Single submitter Charcot-Marie-Tooth disease type 4
c.498-145A>G Single submitter
c.498-14A>G Single submitter Charcot-Marie-Tooth disease type 4
c.498-15C>A Single submitter Charcot-Marie-Tooth disease type 4
c.498-21A>G Single submitter
c.498-87T>C Single submitter
c.646+13G>A Single submitter Charcot-Marie-Tooth disease type 4
c.646+16A>G Single submitter Charcot-Marie-Tooth disease type 4
c.646+20C>G Single submitter Charcot-Marie-Tooth disease type 4
c.646+7G>T Single submitter Charcot-Marie-Tooth disease type 4
c.647-18C>T Single submitter Charcot-Marie-Tooth disease type 4
c.647-20T>C Single submitter Charcot-Marie-Tooth disease type 4
c.66+11C>A Single submitter Charcot-Marie-Tooth disease type 4
c.66+11C>T Single submitter Charcot-Marie-Tooth disease type 4
c.66+12C>A Single submitter Charcot-Marie-Tooth disease type 4
c.66+14C>T Single submitter Charcot-Marie-Tooth disease type 4
c.66+17G>C Single submitter Charcot-Marie-Tooth disease type 4
c.66+19C>G Single submitter Charcot-Marie-Tooth disease type 4
c.66+20G>C Single submitter Charcot-Marie-Tooth disease type 4
c.66+8C>T Single submitter Charcot-Marie-Tooth disease type 4
c.66+9C>G Single submitter Charcot-Marie-Tooth disease type 4
c.67-15C>T Single submitter Charcot-Marie-Tooth disease type 4
c.67-18A>G Single submitter Charcot-Marie-Tooth disease type 4
c.67-8A>G Single submitter Charcot-Marie-Tooth disease type 4
c.775+10C>T Single submitter Charcot-Marie-Tooth disease type 4
c.775+111A>G Single submitter
c.775+8T>A Single submitter Charcot-Marie-Tooth disease type 4
c.776-18C>T Single submitter Charcot-Marie-Tooth disease type 4
c.776-270C>T Single submitter
c.876+14C>T Single submitter Charcot-Marie-Tooth disease type 4
c.876+19T>C Single submitter Charcot-Marie-Tooth disease type 4
c.876+7T>A Single submitter Charcot-Marie-Tooth disease type 4
c.876+7T>C Single submitter Charcot-Marie-Tooth disease type 4
c.877-11T>C Single submitter Charcot-Marie-Tooth disease type 4
c.877-15C>T Single submitter Charcot-Marie-Tooth disease type 4
c.877-7T>C Single submitter Charcot-Marie-Tooth disease type 4
c.877-8_877-5del Single submitter Charcot-Marie-Tooth disease type 4
c.877-8C>G Single submitter Charcot-Marie-Tooth disease type 4
p.Ala117= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala315= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala350= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala357= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala5= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala585= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala6= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala693= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala735= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala745= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala784= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala784Thr Single submitter Inborn genetic diseases
p.Arg113= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg141= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg197= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg23= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg265= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg275= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg381= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg459= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg476= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg587= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg629= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg69= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn162= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn402= Single submitter
p.Asn519= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn805= Single submitter Charcot-Marie-Tooth disease type 4
p.Asp206= Single submitter Charcot-Marie-Tooth disease type 4
p.Asp294= Single submitter Charcot-Marie-Tooth disease type 4
p.Asp516= Single submitter Charcot-Marie-Tooth disease type 4
p.Asp586= Single submitter Charcot-Marie-Tooth disease type 4
p.Asp709= Single submitter Charcot-Marie-Tooth disease type 4
p.Asp719= Single submitter Charcot-Marie-Tooth disease type 4
p.Asp786= Single submitter Charcot-Marie-Tooth disease type 4
p.Asp858= Single submitter Charcot-Marie-Tooth disease type 4

Uncertain significance 457

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

c.1137+5G>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.1388+5G>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.2096+3A>G Multiple submitters Charcot-Marie-Tooth disease
c.2376+4C>T Multiple submitters Inborn genetic diseases
c.2376+5G>C Multiple submitters FIG4-related disorder
c.2460-8A>G Multiple submitters Charcot-Marie-Tooth disease type 4
c.446+5G>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.-132A>G Multiple submitters Charcot-Marie-Tooth disease type 4J
p.Ala308Val Multiple submitters Inborn genetic diseases ⚠
p.Ala396Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala396Val Multiple submitters Inborn genetic diseases ⚠
p.Ala5Val Multiple submitters Inborn genetic diseases ⚠
p.Ala6Ser Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ala89Val Multiple submitters Inborn genetic diseases ⚠
p.Arg141Gln Multiple submitters amyotrophic lateral sclerosis
p.Arg141Trp Multiple submitters amyotrophic lateral sclerosis ⚠
p.Arg183Gln Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg197Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg244Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg265Gln Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg283Cys Multiple submitters Charcot-Marie-Tooth disease type 4J ⚠
p.Arg283His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg325Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg37Cys Multiple submitters Charcot-Marie-Tooth disease type 4J ⚠
p.Arg43Ile Multiple submitters Inborn genetic diseases ⚠
p.Arg450Cys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg450His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg459Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg459Trp Multiple submitters Inborn genetic diseases
p.Arg476His Multiple submitters Inborn genetic diseases ⚠
p.Arg679Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg679Trp Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg699Cys Multiple submitters Inborn genetic diseases
p.Arg699His Multiple submitters amyotrophic lateral sclerosis type 11 ⚠
p.Arg69Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg69His Multiple submitters Inborn genetic diseases ⚠
p.Arg716Cys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg716His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg820Ser Multiple submitters Charcot-Marie-Tooth disease type 4J ⚠
p.Arg88Gln Multiple submitters ⚠
p.Arg88Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg899Ter Multiple submitters Charcot-Marie-Tooth disease type 4J
p.Arg905Cys Multiple submitters Yunis-Varon syndrome ⚠
p.Asn162Ile Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Asn519Asp Multiple submitters Inborn genetic diseases ⚠
p.Asp138Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp307Asn Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Asp351His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Asp613Gly Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Asp719Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys255Tyr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Cys291Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys652Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Gln13Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Gln195Leu Multiple submitters Inborn genetic diseases ⚠
p.Gln60= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Gln823His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Gln864Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln888fs Multiple submitters Charcot-Marie-Tooth disease type 4
p.Gln888Ter Multiple submitters Charcot-Marie-Tooth disease type 4
p.Glu103Asp Multiple submitters ⚠
p.Glu128Lys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Glu187Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu438Gly Multiple submitters Inborn genetic diseases
p.Glu602Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu734Lys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Glu752Asp Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Gly216Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Gly445Asp Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Gly469Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Gly603Glu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Gly68Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly82Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Gly885Val Multiple submitters Inborn genetic diseases ⚠
p.Gly94Asp Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.His122Arg Multiple submitters Inborn genetic diseases ⚠
p.His409Asn Multiple submitters Inborn genetic diseases ⚠
p.His665Gln Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ile107Met Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ile110Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ile133Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ile673Asn Multiple submitters Yunis-Varon syndrome ⚠
p.Ile817Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ile875Phe Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ile880Asn Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ile902Val Multiple submitters Inborn genetic diseases ⚠
p.Leu390Val Multiple submitters Inborn genetic diseases ⚠
p.Leu39Ser Multiple submitters Inborn genetic diseases ⚠
p.Lys259Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Lys502Glu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Lys568Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys717Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys780Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Met132Ile Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Met226Val Multiple submitters Inborn genetic diseases ⚠
p.Met364Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Met364Lys Multiple submitters Inborn genetic diseases ⚠
p.Met694Val Multiple submitters FIG4-related disorder ⚠
p.Met887Thr Multiple submitters Inborn genetic diseases ⚠
p.Met897Thr Multiple submitters amyotrophic lateral sclerosis type 11 ⚠
p.Phe101Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe598Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe598Tyr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Phe664Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe690Ser Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Phe815Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe815Ser Multiple submitters amyotrophic lateral sclerosis type 11 ⚠
p.Pro407Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Pro626Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro718Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro748Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro851Leu Multiple submitters Charcot-Marie-Tooth disease type 4J ⚠
p.Ser240Thr Multiple submitters FIG4-related disorder ⚠
p.Ser312Cys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser333Phe Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser439Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser776Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser787Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser84Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser853Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser856Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser896Cys Multiple submitters Inborn genetic diseases ⚠
p.Thr211Ile Multiple submitters ⚠
p.Thr270Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr338Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr34Met Multiple submitters Inborn genetic diseases
p.Thr3Ser Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Thr410Ala Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Thr59Ala Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Thr612Ala Multiple submitters Charcot-Marie-Tooth disease type 4
p.Thr612Ile Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Thr627Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr705Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr714Ile Multiple submitters Charcot-Marie-Tooth disease
p.Thr741Met Multiple submitters Inborn genetic diseases ⚠
p.Thr777Pro Multiple submitters Inborn genetic diseases ⚠
p.Tyr105Cys Multiple submitters Yunis-Varon syndrome
p.Tyr134Cys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Tyr150Cys Multiple submitters FIG4-related disorder ⚠
p.Tyr169Cys Multiple submitters FIG4-related disorder ⚠
p.Tyr18Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr18His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Tyr263Cys Multiple submitters Charcot-Marie-Tooth disease type 4
p.Tyr36Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr400Cys Multiple submitters Charcot-Marie-Tooth disease type 4
p.Tyr647Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr802Cys Multiple submitters Inborn genetic diseases ⚠
p.Val27Ala Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Val38Ile Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Val706Ile Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Val99Phe Multiple submitters Inborn genetic diseases ⚠
c.1039+3G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1039+5G>T Single submitter Charcot-Marie-Tooth disease type 4
c.1039+6T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1137+3A>G Single submitter
c.1272-3C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1388+8T>A Single submitter Charcot-Marie-Tooth disease type 4
c.1583+1G>T Single submitter Yunis-Varon syndrome
c.1583+6T>G Single submitter Inborn genetic diseases
c.1584-3T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1750+3A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1889+9C>T Single submitter Charcot-Marie-Tooth disease type 4J
c.1890-14T>G Single submitter Charcot-Marie-Tooth disease type 4
c.1948+3A>T Single submitter Charcot-Marie-Tooth disease type 4
c.1948+5G>T Single submitter
c.1949-6_1949-3del Single submitter Charcot-Marie-Tooth disease type 4
c.1949-9C>T Single submitter
c.2180+3A>G Single submitter Charcot-Marie-Tooth disease type 4
c.2376+4C>G Single submitter Charcot-Marie-Tooth disease type 4
c.2376+5G>A Single submitter Charcot-Marie-Tooth disease type 4
c.2377-1G>A Single submitter Inborn genetic diseases
c.2460-12T>A Single submitter Charcot-Marie-Tooth disease type 4
c.2460-5T>A Single submitter Charcot-Marie-Tooth disease type 4
c.2546+5G>A Single submitter Charcot-Marie-Tooth disease type 4
c.2546+5G>C Single submitter amyotrophic lateral sclerosis type 11
c.2547-3T>A Single submitter Charcot-Marie-Tooth disease type 4
c.446+3A>G Single submitter Charcot-Marie-Tooth disease type 4
c.446+4T>A Single submitter Charcot-Marie-Tooth disease type 4
c.447-565_447-564inv Single submitter Charcot-Marie-Tooth disease type 4
c.775+5C>G Single submitter Charcot-Marie-Tooth disease type 4
c.-112G>A Single submitter amyotrophic lateral sclerosis type 11
c.-124A>G Single submitter Charcot-Marie-Tooth disease type 4J
c.-134C>G Single submitter Charcot-Marie-Tooth disease type 4J
c.-138T>C Single submitter Charcot-Marie-Tooth disease type 4J
c.-152C>A Single submitter Charcot-Marie-Tooth disease type 4J
c.-84A>G Single submitter Charcot-Marie-Tooth disease type 4J
c.*8G>A Single submitter
p.Ala289Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala308Gly Single submitter ⚠
p.Ala357Thr Single submitter ⚠
p.Ala419Ser Single submitter ⚠
p.Ala561Thr Single submitter Inborn genetic diseases ⚠
p.Ala698Thr Single submitter Inborn genetic diseases ⚠
p.Ala735Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala745Gly Single submitter Inborn genetic diseases ⚠
p.Ala854Ser Single submitter Charcot-Marie-Tooth disease type 4
p.Ala882Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg100Met Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg114Gly Single submitter ⚠
p.Arg149Gly Single submitter Inborn genetic diseases ⚠
p.Arg149Thr Single submitter ⚠
p.Arg152Gln Single submitter Inborn genetic diseases ⚠
p.Arg197His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg197Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg21Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg21Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg23Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg244His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg367Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg37His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg388Ile Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg450Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg553Pro Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg576= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg629Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg699Gly Single submitter Inborn genetic diseases ⚠
p.Arg739Trp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg766Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg766Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg766Trp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg775Cys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg775His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg820Ile Single submitter Charcot-Marie-Tooth disease type 4
p.Arg867fs Single submitter
p.Arg867Thr Single submitter Inborn genetic diseases ⚠
p.Arg905His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn178Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn290Asp Single submitter ⚠
p.Asn30Thr Single submitter ⚠
p.Asn519Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn592Ser Single submitter Inborn genetic diseases ⚠
p.Asn728Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn731Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn74Lys Single submitter Inborn genetic diseases ⚠
p.Asn74Ser Single submitter Inborn genetic diseases ⚠
p.Asn793Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp118Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp118Tyr Single submitter leukemia, chronic lymphocytic, susceptibility to, 3
p.Asp138Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp202Asn Single submitter Inborn genetic diseases ⚠
p.Asp362Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp42Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp452Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp516Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp525Glu Single submitter Inborn genetic diseases ⚠
p.Asp525Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp53Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp584Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp589His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp672Tyr Single submitter Inborn genetic diseases ⚠
p.Asp687Gly Single submitter Inborn genetic diseases ⚠
p.Asp700Tyr Single submitter Charcot-Marie-Tooth disease type 4
p.Asp814Val Single submitter Charcot-Marie-Tooth disease
p.Asp832Glu Single submitter Yunis-Varon syndrome ⚠
p.Asp869Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp894Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Cys455Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln176Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln198Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln198His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln366Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln478= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln478Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln497Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln588Arg Single submitter Charcot-Marie-Tooth disease ⚠
p.Gln61= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln61Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln828Arg Single submitter ⚠
p.Gln837Ter Single submitter amyotrophic lateral sclerosis type 11
p.Gln888Arg Single submitter Inborn genetic diseases ⚠
p.Glu19= Single submitter
p.Glu19Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu298Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu408Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu438Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu638Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu682Ala Single submitter Inborn genetic diseases ⚠
p.Glu734Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu813Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly120Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly214Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly264Arg Single submitter ⚠
p.Gly288Val Single submitter ⚠
p.Gly326Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly468Glu Single submitter ⚠
p.Gly475Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly707Arg Single submitter bilateral parasagittal parieto-occipital polymicrogyria ⚠
p.Gly73Glu Single submitter ⚠
p.Gly770Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly79Arg Single submitter Charcot-Marie-Tooth disease type 4J ⚠
p.Gly885Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly891Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.His252Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.His355Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.His409Arg Single submitter
p.His409Tyr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.His537Pro Single submitter ⚠
p.His606Tyr Single submitter Inborn genetic diseases ⚠
p.His829Tyr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ile110del Single submitter Charcot-Marie-Tooth disease type 4