Sugi Variant

Sugi Variant/NEFL

NEFL — 637 ClinVar variants

All ClinVar germline NEFL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 312 flagged for review →

27 Pathogenic · 6 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 31 Conflicting · 17 Benign · 15 Benign/Likely benign · 136 Likely benign · 393 Uncertain significance

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

⚑ Evidence disagreements 312

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 17

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

Predictors lean, ClinVar uncertain 236

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 236

Predictors split 58

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

All NEFL variants

Pathogenic 27

  • p.Arg421Ter Multiple submitters Charcot-Marie-Tooth disease
  • p.Glu396Lys Multiple submitters Charcot-Marie-Tooth disease
  • p.Glu90Lys Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Thr170fs Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Tyr139Ter Multiple submitters Charcot-Marie-Tooth disease type 2E
  • c.1414= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala423_Tyr424insTer Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Gln332Pro Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Gln414fs Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Gln75Ter Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Glu163Ter Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Glu278fs Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Glu289fs Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Glu453Ter Single submitter Charcot-Marie-Tooth disease type 1F
  • p.Leu254fs Single submitter auditory neuropathy
  • p.Leu268Pro Single submitter peripheral neuropathy
  • p.Lys267fs Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Met347fs Single submitter Charcot-Marie-Tooth disease
  • p.Pro8Gln Single submitter Charcot-Marie-Tooth disease
  • p.Ser11Ter Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Trp279Ter Single submitter
  • p.Tyr240Ter Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Tyr265Ter Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Tyr57Ter Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Glu140Ter No assertion criteria Charcot-Marie-Tooth disease type 1F
  • p.Glu210Ter No assertion criteria Charcot-Marie-Tooth disease type 1F
  • p.Pro8Arg No assertion criteria Charcot-Marie-Tooth disease type 2E

Pathogenic/Likely pathogenic 6

  • p.Arg399Ter Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Asn98Ser Multiple submitters Charcot-Marie-Tooth disease, dominant intermediate G
  • p.Glu186Ter Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Pro22Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro8Leu Multiple submitters Inborn genetic diseases
  • p.Tyr6Ter Multiple submitters Charcot-Marie-Tooth disease type 1F

Likely pathogenic 12

  • p.Asn98His Multiple submitters NEFL-related disorder
  • p.Tyr265Cys Multiple submitters NEFL-related disorder ⚠
  • c.1044+2T>G Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Gln332fs Single submitter Charcot-Marie-Tooth disease
  • p.Gln334fs Single submitter Charcot-Marie-Tooth disease
  • p.Glu181Ter Single submitter Charcot-Marie-Tooth disease
  • p.Glu266Ter Single submitter
  • p.Glu90Ala Single submitter NEFL-related disorder
  • p.Leu268Arg Single submitter Hereditary neuropathy or pain disorder
  • p.Leu94Pro Single submitter NEFL-related disorder
  • p.Tyr18Ter Single submitter Charcot-Marie-Tooth disease type 1F
  • p.Tyr265Asn Single submitter Charcot-Marie-Tooth disease type 2E

Conflicting classifications of pathogenicity 31

  • c.*2C>A Single submitter Charcot-Marie-Tooth disease
  • p.Ala188= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala205Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg323Pro Single submitter Charcot-Marie-Tooth disease type 2E ⚠
  • p.Asn98Asp Single submitter Charcot-Marie-Tooth disease type 2E ⚠
  • p.Asn98Lys Single submitter Charcot-Marie-Tooth disease type 2E ⚠
  • p.Gln113Pro Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Gln274Arg Single submitter Charcot-Marie-Tooth disease type 2E ⚠
  • p.Gln537Arg Single submitter Charcot-Marie-Tooth disease type 1F ⚠
  • p.Glu210Gln Single submitter Charcot-Marie-Tooth disease type 2E ⚠
  • p.Glu266Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu289Ter Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Glu7Lys Single submitter Charcot-Marie-Tooth disease type 1F ⚠
  • p.Ile213Met Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Leu329Pro Single submitter Charcot-Marie-Tooth disease, dominant intermediate G ⚠
  • p.Leu392His Single submitter Charcot-Marie-Tooth disease type 2E ⚠
  • p.Leu393Phe Single submitter Charcot-Marie-Tooth disease type 2E ⚠
  • p.Lys15= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Phe439Ile Single submitter Inborn genetic diseases ⚠
  • p.Pro22= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Pro22His Single submitter Charcot-Marie-Tooth disease type 1F
  • p.Pro22Leu Single submitter Charcot-Marie-Tooth disease type 2E ⚠
  • p.Pro440Leu Single submitter Inborn genetic diseases
  • p.Pro470Ser Single submitter Charcot-Marie-Tooth disease type 2E ⚠
  • p.Pro8Thr Single submitter Charcot-Marie-Tooth disease type 2E ⚠
  • p.Thr88Pro Single submitter Charcot-Marie-Tooth disease type 2E ⚠
  • p.Tyr265Asp Single submitter Inborn genetic diseases ⚠
  • p.Val29Ala Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Val47= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Val76Ala Single submitter Charcot-Marie-Tooth disease
  • p.Thr21fs No assertion criteria Charcot-Marie-Tooth disease

Benign 17

  • c.1044+39G>C Multiple submitters
  • c.-176C>A Multiple submitters Charcot-Marie-Tooth disease type 1F
  • c.-374A>G Multiple submitters
  • c.*235A>T Multiple submitters
  • c.1489+16dup Single submitter Charcot-Marie-Tooth disease type 2E
  • c.-183C>G Single submitter Charcot-Marie-Tooth disease type 1F
  • c.*1256G>A Single submitter
  • c.*1293A>G Single submitter Charcot-Marie-Tooth disease type 1F
  • c.*1344G>A Single submitter Charcot-Marie-Tooth disease type 1F
  • c.*1806T>C Single submitter Charcot-Marie-Tooth disease type 1F
  • c.*244A>G Single submitter Charcot-Marie-Tooth disease type 1F
  • c.*426G>A Single submitter
  • c.*486T>G Single submitter Charcot-Marie-Tooth disease type 1F
  • c.*687G>C Single submitter
  • c.*82T>A Single submitter Charcot-Marie-Tooth disease type 1F
  • c.*878A>G Single submitter Charcot-Marie-Tooth disease type 1F
  • p.Leu64= No assertion criteria

Benign/Likely benign 15

  • c.1044+20A>T Multiple submitters Charcot-Marie-Tooth disease type 2E
  • c.1170-13T>C Multiple submitters Charcot-Marie-Tooth disease
  • c.*101A>G Multiple submitters Charcot-Marie-Tooth disease type 1F
  • p.Ala195Val Multiple submitters Inborn genetic diseases
  • p.Asp468Asn Multiple submitters Charcot-Marie-Tooth disease
  • p.Gln93= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Glu194Asp Multiple submitters Inborn genetic diseases
  • p.Glu469= Multiple submitters Inborn genetic diseases
  • p.Glu527del Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Gly425= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Leu223= Multiple submitters Charcot-Marie-Tooth disease
  • p.Ser404= Multiple submitters Charcot-Marie-Tooth disease
  • p.Thr285= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Thr520= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Tyr443= Multiple submitters Inborn genetic diseases

Likely benign 136

  • c.1169+14G>A Multiple submitters Charcot-Marie-Tooth disease
  • c.1170-19C>T Multiple submitters Charcot-Marie-Tooth disease
  • p.Ala149= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Ala346= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Arg107= Multiple submitters Charcot-Marie-Tooth disease
  • p.Gln141= Multiple submitters Charcot-Marie-Tooth disease
  • p.Gln428= Multiple submitters Inborn genetic diseases
  • p.Gln537= Multiple submitters Charcot-Marie-Tooth disease
  • p.Glu140= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Glu163= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Glu210= Multiple submitters Charcot-Marie-Tooth disease
  • p.Glu337= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Glu465= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Glu487= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Glu494= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Gly395= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Ile213= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Leu204= Multiple submitters Charcot-Marie-Tooth disease
  • p.Leu336Val Multiple submitters Charcot-Marie-Tooth disease
  • p.Lys302= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Ser11= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Ser58= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Thr429= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • p.Val530= Multiple submitters Charcot-Marie-Tooth disease type 2E
  • c.1044+10G>C Single submitter Charcot-Marie-Tooth disease type 2E
  • c.1044+14A>C Single submitter Charcot-Marie-Tooth disease type 2E
  • c.1044+15G>C Single submitter Charcot-Marie-Tooth disease type 2E
  • c.1044+16A>G Single submitter Charcot-Marie-Tooth disease type 2E
  • c.1044+17A>C Single submitter Charcot-Marie-Tooth disease type 2E
  • c.1044+19C>T Single submitter Charcot-Marie-Tooth disease type 2E
  • c.1044+46G>A Single submitter
  • c.1044+9C>A Single submitter Charcot-Marie-Tooth disease type 2E
  • c.1169+20G>T Single submitter Charcot-Marie-Tooth disease type 2E
  • c.1170-16G>A Single submitter Charcot-Marie-Tooth disease type 2E
  • c.1489+16A>T Single submitter Charcot-Marie-Tooth disease type 2E
  • c.1489+17C>G Single submitter Charcot-Marie-Tooth disease type 2E
  • c.1490-193C>T Single submitter
  • c.1490-7G>A Single submitter Charcot-Marie-Tooth disease type 2E
  • c.-37A>C Single submitter
  • c.*1100C>T Single submitter
  • c.*1107C>T Single submitter
  • c.*1155T>G Single submitter
  • c.*1198G>C Single submitter
  • c.*1643G>A Single submitter
  • c.*378A>G Single submitter
  • c.*436T>G Single submitter Charcot-Marie-Tooth disease type 1F
  • p.Ala120= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala150= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala176= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala199= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala203= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala205= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala207= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala263= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala291= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala292= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala297= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala301= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala328= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala342= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala36= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala460= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala476= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala486= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ala77= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Arg16= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Arg164= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Arg177= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Arg212= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Arg323= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Arg421= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Asn272= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Asn70= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Asp218= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Asp260= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Asp96= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Gln113His Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Gln235= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Gln417= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Glu186= Single submitter Charcot-Marie-Tooth disease type 1F
  • p.Glu189= Single submitter
  • p.Glu246= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Glu266= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Glu278= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Glu455= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Glu464= Single submitter
  • p.Glu526= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Glu536= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Glu69= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Gly162= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Gly198= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ile243= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ile26= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ile319= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Leu118= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Leu146= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Leu160= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Leu183= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Leu209= Single submitter
  • p.Leu216= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Leu312= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Leu400= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Leu73= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Lys259= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Lys315= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Lys331= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Lys462= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Pro252= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Pro440= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Pro470_Pro471= Single submitter
  • p.Ser130= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ser244= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ser306= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ser38= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ser41= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ser416= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Ser49= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Thr12= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Thr21= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Thr288= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Thr295= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Thr35= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Thr88= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Tyr10= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Tyr18= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Tyr240= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Tyr412= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Tyr424= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Tyr442= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Val124= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Val226= Single submitter Charcot-Marie-Tooth disease
  • p.Val286= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Val76= Single submitter Charcot-Marie-Tooth disease type 2E
  • p.Glu168= No assertion criteria NEFL-related disorder
  • p.Leu94= No assertion criteria NEFL-related disorder
  • p.Ser28= No assertion criteria NEFL-related disorder

Uncertain significance 393

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