Sugi Variant

Sugi Variant/NLRC4

NLRC4 — 916 ClinVar variants

All ClinVar germline NLRC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 504 flagged for review →

5 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 49 Conflicting · 20 Benign · 21 Benign/Likely benign · 259 Likely benign · 554 Uncertain significance

Full NLRC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 504

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 4

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

Predictors agree, ClinVar conflicts 31

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

Predictors lean, ClinVar uncertain 380

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 380

Predictors split 89

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

All NLRC4 variants

Pathogenic 5

  • p.Val341Ala Multiple submitters Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) ⚠
  • p.His443Pro Single submitter familial cold autoinflammatory syndrome 4
  • p.Thr337Ser Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Val341Leu Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Leu339Pro No assertion criteria familial cold autoinflammatory syndrome 4

Pathogenic/Likely pathogenic 1

  • p.Ser445Pro Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠

Likely pathogenic 7

Conflicting classifications of pathogenicity 49

  • c.263-11T>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.263-3T>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ala160Thr Single submitter autoinflammatory syndrome ⚠
  • p.Ala183= Single submitter autoinflammatory syndrome
  • p.Ala307Val Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ala510Thr Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ala883Thr Single submitter autoinflammatory syndrome ⚠
  • p.Ala945= Single submitter autoinflammatory syndrome
  • p.Ala982Val Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Arg310Ter Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Arg35= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Arg35His Single submitter Inborn genetic diseases ⚠
  • p.Arg388= Single submitter autoinflammatory syndrome
  • p.Arg388Gln Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg453Ter Single submitter familial cold autoinflammatory syndrome 4
  • p.Arg492= Single submitter autoinflammatory syndrome
  • p.Arg9Gln Single submitter Inborn genetic diseases ⚠
  • p.Asn471fs Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asn67His Single submitter Inborn genetic diseases ⚠
  • p.Asp100Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp83= Single submitter autoinflammatory syndrome
  • p.Cys43= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Cys517Ser Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gln893Arg Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Glu658Gln Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu905Gly Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly172Ser Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Gly786Val Single submitter autoinflammatory syndrome ⚠
  • p.Gly959Ala Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.His145Tyr Single submitter Inborn genetic diseases ⚠
  • p.His869Gln Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ile551Phe Single submitter atopic eczema ⚠
  • p.Leu216= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu790Pro Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Lys175= Single submitter familial cold autoinflammatory syndrome 4
  • p.Lys315= Single submitter autoinflammatory syndrome
  • p.Lys986Arg Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Met235Thr Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Met274Ile Single submitter Inborn genetic diseases ⚠
  • p.Met621Val Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Phe199= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Pro752Leu Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ser163Asn Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ser176Thr Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Thr360= Single submitter autoinflammatory syndrome
  • p.Trp30fs Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Val200Ile Single submitter NLRC4-related disorder ⚠
  • p.Val877Met Single submitter autoinflammatory syndrome ⚠
  • p.Val910Ile Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠

Benign 20

Benign/Likely benign 21

  • c.2350+9T>C Multiple submitters familial cold autoinflammatory syndrome 4
  • c.2614+12A>T Multiple submitters familial cold autoinflammatory syndrome 4
  • c.2614+15T>G Multiple submitters familial cold autoinflammatory syndrome 4
  • p.Ala10= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ala608= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ala929Ser Multiple submitters autoinflammatory syndrome
  • p.Arg181= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asn876= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asp891= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gly211Glu Multiple submitters autoinflammatory syndrome
  • p.Leu561= Multiple submitters autoinflammatory syndrome
  • p.Leu909= Multiple submitters autoinflammatory syndrome
  • p.Leu914= Multiple submitters autoinflammatory syndrome
  • p.Phe961= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Pro752= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ser489= Multiple submitters familial cold autoinflammatory syndrome 4
  • p.Ser522Pro Multiple submitters familial cold autoinflammatory syndrome 4
  • p.Thr361= Multiple submitters autoinflammatory syndrome
  • p.Thr460= Multiple submitters autoinflammatory syndrome
  • p.Trp624Arg Multiple submitters autoinflammatory syndrome
  • p.Val416= Multiple submitters autoinflammatory syndrome

Likely benign 259

  • c.2521+12T>G Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.263-15C>A Multiple submitters familial cold autoinflammatory syndrome 4
  • c.263-19A>G Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.263-7C>G Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ala160= Multiple submitters autoinflammatory syndrome
  • p.Ala883= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ala982Gly Multiple submitters autoinflammatory syndrome
  • p.Arg948= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asn7= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asn876Lys Multiple submitters autoinflammatory syndrome
  • p.Asp757fs Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asp99= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Cys42= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Glu905= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gly187= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gly211= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gly62= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gly681= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.His869= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ile40= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ile41= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ile726Thr Multiple submitters familial cold autoinflammatory syndrome 4
  • p.Leu152= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu70Phe Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu80= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Lys192= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Phe441= Multiple submitters familial cold autoinflammatory syndrome 4
  • p.Phe796= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Phe972= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Pro592= Multiple submitters autoinflammatory syndrome
  • p.Ser304= Multiple submitters familial cold autoinflammatory syndrome 4
  • p.Ser414= Multiple submitters familial cold autoinflammatory syndrome 4
  • p.Ser481= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ser829= Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Thr882= Multiple submitters familial cold autoinflammatory syndrome 4
  • p.Trp30Ter Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Val735= Multiple submitters familial cold autoinflammatory syndrome 4
  • p.Val990= Multiple submitters familial cold autoinflammatory syndrome 4
  • c.1+10T>A Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.1+11G>T Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2-11C>T Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2-12C>T Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2-2A>G Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2-4T>C Single submitter familial cold autoinflammatory syndrome 4
  • c.2-6C>T Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2-8C>G Single submitter familial cold autoinflammatory syndrome 4
  • c.2257+10A>G Single submitter familial cold autoinflammatory syndrome 4
  • c.2257+11T>A Single submitter
  • c.2257+11T>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2257+15A>C Single submitter familial cold autoinflammatory syndrome 4
  • c.2257+16G>A Single submitter familial cold autoinflammatory syndrome 4
  • c.2257+17T>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2257+20T>G Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2257+7T>C Single submitter familial cold autoinflammatory syndrome 4
  • c.2258-11del Single submitter
  • c.2258-11T>C Single submitter familial cold autoinflammatory syndrome 4
  • c.2258-15T>G Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2258-19A>G Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2258-5G>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2258-6T>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2258-8T>C Single submitter familial cold autoinflammatory syndrome 4
  • c.2350+12G>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2350+15C>A Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2350+15C>G Single submitter familial cold autoinflammatory syndrome 4
  • c.2350+18A>G Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2350+19T>C Single submitter
  • c.2350+36dup Single submitter
  • c.2350+9del Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2350+9T>A Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2351-11T>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2351-12A>G Single submitter familial cold autoinflammatory syndrome 4
  • c.2351-18C>T Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2351-20T>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2351-8T>C Single submitter familial cold autoinflammatory syndrome 4
  • c.2351-9A>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2522-11T>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2522-16T>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2522-4C>G Single submitter familial cold autoinflammatory syndrome 4
  • c.2522-8T>C Single submitter familial cold autoinflammatory syndrome 4
  • c.2614+7A>G Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2614+9G>A Single submitter familial cold autoinflammatory syndrome 4
  • c.2615-13_2615-12del Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2615-20C>A Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2615-8T>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.262+10A>G Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.262+12T>G Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.262+14A>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.262+20G>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.262+8T>A Single submitter familial cold autoinflammatory syndrome 4
  • c.263-12C>G Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.263-19A>T Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.263-20C>T Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.263-9C>T Single submitter familial cold autoinflammatory syndrome 4
  • c.2782+13A>G Single submitter familial cold autoinflammatory syndrome 4
  • c.2782+16C>T Single submitter familial cold autoinflammatory syndrome 4
  • c.2782+18G>A Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2782+18G>T Single submitter familial cold autoinflammatory syndrome 4
  • c.2782+19A>G Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2782+9A>T Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2783-13T>A Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2783-14dup Single submitter familial cold autoinflammatory syndrome 4
  • c.2783-19T>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2783-20A>G Single submitter familial cold autoinflammatory syndrome 4
  • c.-48A>G Single submitter autoinflammatory syndrome
  • p.Ala292= Single submitter
  • p.Ala318fs Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ala383= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ala504= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ala51= Single submitter familial cold autoinflammatory syndrome 4
  • p.Ala511= Single submitter
  • p.Ala648= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ala721= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ala929= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Arg148= Single submitter familial cold autoinflammatory syndrome 4
  • p.Arg285= Single submitter familial cold autoinflammatory syndrome 4
  • p.Arg503= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Arg647fs Single submitter familial cold autoinflammatory syndrome 4
  • p.Arg667= Single submitter
  • p.Arg696fs Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asn251= Single submitter familial cold autoinflammatory syndrome 4
  • p.Asn333= Single submitter familial cold autoinflammatory syndrome 4
  • p.Asn67= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asn713= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asn865= Single submitter
  • p.Asn934= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asn938= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asp1011Glu Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp248= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asp26= Single submitter familial cold autoinflammatory syndrome 4
  • p.Asp303= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asp368= Single submitter familial cold autoinflammatory syndrome 4
  • p.Asp385= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asp610= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asp771= Single submitter familial cold autoinflammatory syndrome 4
  • p.Asp863= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asp952= Single submitter familial cold autoinflammatory syndrome 4
  • p.Cys345= Single submitter
  • p.Cys393= Single submitter familial cold autoinflammatory syndrome 4
  • p.Cys697= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Cys831= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gln103Ter Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gln144= Single submitter familial cold autoinflammatory syndrome 4
  • p.Gln162= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gln256= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gln306= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gln306fs Single submitter familial cold autoinflammatory syndrome 4
  • p.Gln348= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gln359= Single submitter
  • p.Gln749= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gln826= Single submitter familial cold autoinflammatory syndrome 4
  • p.Glu418= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Glu44= Single submitter familial cold autoinflammatory syndrome 4
  • p.Glu465= Single submitter
  • p.Glu532= Single submitter familial cold autoinflammatory syndrome 4
  • p.Glu600fs Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Glu870= Single submitter
  • p.Glu962= Single submitter familial cold autoinflammatory syndrome 4
  • p.Gly864= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gly913= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.His462= Single submitter familial cold autoinflammatory syndrome 4
  • p.His515= Single submitter familial cold autoinflammatory syndrome 4
  • p.His744= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.His797= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ile634= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ile872= Single submitter familial cold autoinflammatory syndrome 4
  • p.Ile924= Single submitter familial cold autoinflammatory syndrome 4
  • p.Leu101= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu1021= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu105= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu139= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu27= Single submitter familial cold autoinflammatory syndrome 4
  • p.Leu284= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu284fs Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu317= Single submitter familial cold autoinflammatory syndrome 4
  • p.Leu322= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu323= Single submitter familial cold autoinflammatory syndrome 4
  • p.Leu339= Single submitter
  • p.Leu339fs Single submitter familial cold autoinflammatory syndrome 4
  • p.Leu390= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu398= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu422= Single submitter
  • p.Leu426= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu509= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu708= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu759= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu762= Single submitter familial cold autoinflammatory syndrome 4
  • p.Leu790= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu832= Single submitter familial cold autoinflammatory syndrome 4
  • p.Leu850= Single submitter familial cold autoinflammatory syndrome 4
  • p.Leu886= Single submitter familial cold autoinflammatory syndrome 4
  • p.Leu896= Single submitter familial cold autoinflammatory syndrome 4
  • p.Leu89fs Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Leu900= Single submitter familial cold autoinflammatory syndrome 4
  • p.Leu955= Single submitter familial cold autoinflammatory syndrome 4
  • p.Lys198= Single submitter familial cold autoinflammatory syndrome 4
  • p.Lys229= Single submitter familial cold autoinflammatory syndrome 4
  • p.Lys272= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Lys315Glu Single submitter Inborn genetic diseases
  • p.Lys440= Single submitter familial cold autoinflammatory syndrome 4
  • p.Lys5= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Lys626= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Lys695= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Lys739= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Lys782= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Phe199Leu Single submitter Inborn genetic diseases
  • p.Phe201= Single submitter familial cold autoinflammatory syndrome 4
  • p.Phe232= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Phe245fs Single submitter familial cold autoinflammatory syndrome 4
  • p.Phe340= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Phe366= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Phe402= Single submitter familial cold autoinflammatory syndrome 4
  • p.Phe408= Single submitter familial cold autoinflammatory syndrome 4
  • p.Phe69= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Pro137= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Pro338= Single submitter familial cold autoinflammatory syndrome 4
  • p.Pro437= Single submitter familial cold autoinflammatory syndrome 4
  • p.Pro603= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Pro819= Single submitter
  • p.Pro907= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ser163= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ser171= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ser188= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ser328= Single submitter
  • p.Ser415= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ser498= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ser533= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ser536= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ser63= Single submitter familial cold autoinflammatory syndrome 4
  • p.Ser734= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ser856= Single submitter familial cold autoinflammatory syndrome 4
  • p.Ser897= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ter1025= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Thr153= Single submitter autoinflammatory syndrome
  • p.Thr195= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Thr215= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Thr279= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Thr424= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Thr450= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Thr494= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Thr688= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Thr733= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Thr920= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Tyr109= Single submitter familial cold autoinflammatory syndrome 4
  • p.Tyr430= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Tyr439= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Tyr487= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Tyr643= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Val138= Single submitter familial cold autoinflammatory syndrome 4
  • p.Val275= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Val341= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Val381= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Val420= Single submitter familial cold autoinflammatory syndrome 4
  • p.Val499Ala Single submitter Inborn genetic diseases
  • p.Val512= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Val555= Single submitter familial cold autoinflammatory syndrome 4
  • p.Val700= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Val949= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Val968= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ala510= No assertion criteria NLRC4-related disorder

Uncertain significance 554

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

  • c.1+4_1+7del Multiple submitters familial cold autoinflammatory syndrome 4
  • c.2258-3C>G Multiple submitters
  • c.2351-8T>G Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ala1018Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala193Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala234Val Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • p.Ala318Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala982Glu Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg148Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg148His Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg204His Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • p.Arg270Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg288Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg310Gln Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg332Thr Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg388Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg492Trp Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg647Lys Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg667Trp Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • p.Arg948His Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asn539fs Multiple submitters familial cold autoinflammatory syndrome 4
  • p.Asn590Ser Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • p.Asn934Lys Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asn943Ile Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp1009Tyr Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp104Glu Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp809Gly Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp891Ala Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • p.Asp99Glu Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp99Gly Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • p.Cys191Phe Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Cys258Arg Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • p.Cys43Tyr Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • p.Cys495Tyr Multiple submitters ⚠
  • p.Cys794Arg Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gln159Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln219Ter Multiple submitters autoinflammatory syndrome
  • p.Gln48Leu Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gln543Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Gln940Ter Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Glu262Lys Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu302Ala Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • p.Glu465Asp Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu542Gly Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu542Lys Multiple submitters autoinflammatory syndrome ⚠
  • p.Glu600Gly Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu600Ter Multiple submitters familial cold autoinflammatory syndrome 4
  • p.Glu625Gly Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu905fs Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Glu976Ter Multiple submitters familial cold autoinflammatory syndrome 4
  • p.Gly189Arg Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly291Ser Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly520Arg Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly633Arg Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly932fs Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gly96Arg Multiple submitters NLRC4-related disorder ⚠
  • p.His378Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Ile124Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ile124Thr Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ile127Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile261Phe Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • p.Ile309Asn Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ile343Val Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ile677Asn Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ile825Thr Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Leu1021Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Leu212Val Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Leu426Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Leu822Ile Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • p.Leu853Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu896Gln Multiple submitters autoinflammatory syndrome
  • p.Leu967Ser Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • p.Leu98Val Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Lys444Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Lys525Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys626fs Multiple submitters familial cold autoinflammatory syndrome 4
  • p.Lys682fs Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Lys975Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Met775Ile Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Met958Ile Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Phe245Val Multiple submitters Inborn genetic diseases ⚠
  • p.Phe386Leu Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Phe402fs Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Phe596Ser Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Phe669Ile Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Phe81Leu Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Pro437Thr Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Pro527Thr Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • p.Pro603Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro645Leu Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • p.Pro907Leu Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ser113Pro Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ser206Thr Multiple submitters autoinflammatory syndrome ⚠
  • p.Ser72fs Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Ser734Pro Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ser817Gly Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ser94Leu Multiple submitters autoinflammatory syndrome ⚠
  • p.Thr278Ile Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Thr361Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr460Met Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Thr631Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Trp888Arg Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Tyr585Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val277Ile Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Val342Gly Multiple submitters ⚠
  • p.Val38Ile Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • p.Val537Ala Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Val719Ala Multiple submitters autoinflammatory syndrome ⚠
  • p.Val892Met Multiple submitters periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Val906Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val990Gly Multiple submitters familial cold autoinflammatory syndrome 4 ⚠
  • c.1+5G>T Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2257+1G>A Single submitter familial cold autoinflammatory syndrome 4
  • c.2257+2T>C Single submitter familial cold autoinflammatory syndrome 4
  • c.2521+1G>A Single submitter familial cold autoinflammatory syndrome 4
  • c.2522-7T>A Single submitter familial cold autoinflammatory syndrome 4
  • c.2614+1G>A Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2614+3A>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2614+6A>G Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2615-14T>C Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • c.2615-1G>A Single submitter
  • c.262+4A>T Single submitter familial cold autoinflammatory syndrome 4
  • c.-10A>T Single submitter autoinflammatory syndrome
  • c.-118-14_-118-10del Single submitter
  • c.-118-3C>G Single submitter
  • c.-119+1G>T Single submitter
  • c.*13C>G Single submitter
  • p.Ala1018Gly Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ala1024Thr Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Ala10Ser Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Ala183Asp Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Ala263Val Single submitter Inborn genetic diseases ⚠
  • p.Ala305Thr Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ala318Asp Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Ala383Pro Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ala397Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala397Ser Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ala504Val Single submitter ⚠
  • p.Ala50Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala511Thr Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Ala51Thr Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Ala524Thr Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ala524Val Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ala627Thr Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Ala639Ser Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Ala687Val Single submitter Inborn genetic diseases ⚠
  • p.Ala784Gly Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Ala834Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala834Val Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Ala836Val Single submitter Inborn genetic diseases ⚠
  • p.Ala867Val Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Arg1001Thr Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Arg148Leu Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Arg181fs Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Arg181Gln Single submitter ⚠
  • p.Arg181His Single submitter familial cold autoinflammatory syndrome 4
  • p.Arg181Pro Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Arg181Ter Single submitter familial cold autoinflammatory syndrome 4
  • p.Arg204Cys Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Arg240Gln Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg240Trp Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg270His Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg285Lys Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg288Gln Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg288Trp Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Arg332Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg35Cys Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg434Ser Single submitter autoinflammatory syndrome ⚠
  • p.Arg454Ter Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Arg492Gln Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg526Thr Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Arg647Ser Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg660Gly Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg667Gln Single submitter NLRC4-related disorder ⚠
  • p.Arg691Gly Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg750Trp Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Arg925Thr Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Arg948Cys Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Asn116Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn273Tyr Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asn31His Single submitter ⚠
  • p.Asn31Ser Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Asn539Thr Single submitter ⚠
  • p.Asn587fs Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asn604Lys Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asn604Ser Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asn748Lys Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asn764Lys Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asn776Asp Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asn7Lys Single submitter autoinflammatory syndrome ⚠
  • p.Asn835Lys Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asn943Ser Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Asp1009Gly Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Asp1009His Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Asp125Gly Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp125His Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp218Asn Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Asp25Asn Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp385Glu Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp391Asn Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp395Tyr Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp419Ala Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp419Glu Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp482His Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp593Asn Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp593Glu Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp593Gly Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Asp597Gly Single submitter ⚠
  • p.Asp676Gly Single submitter ⚠
  • p.Asp779Val Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Asp809_Tyr810insTer Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asp854fs Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asp873Asn Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Asp891del Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Asp980His Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Asp980Val Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Cys165Ser Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Cys258Tyr Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Cys330Gly Single submitter ⚠
  • p.Cys42Arg Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Cys517Ter Single submitter familial cold autoinflammatory syndrome 4
  • p.Cys517Tyr Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Cys697Arg Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Cys697Gly Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Cys697Ser Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Cys820Arg Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Cys890Ser Single submitter autoinflammatory syndrome ⚠
  • p.Cys890Tyr Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Gln144Glu Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gln209His Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gln359fs Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gln411Pro Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gln514Pro Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gln580Glu Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gln580Pro Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gln82Arg Single submitter ⚠
  • p.Gln87= Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gln893Ter Single submitter
  • p.Gln941Arg Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu282Ala Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu302Gln Single submitter ⚠
  • p.Glu36Lys Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu399Lys Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu409Lys Single submitter autoinflammatory syndrome ⚠
  • p.Glu418Lys Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu44Lys Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu47Lys Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu542Val Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu544Gln Single submitter ⚠
  • p.Glu556fs Single submitter
  • p.Glu564Ala Single submitter ⚠
  • p.Glu564Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu778Asp Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Glu823Lys Single submitter autoinflammatory syndrome ⚠
  • p.Glu861Ala Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu861Gly Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu879_Leu881del Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Glu879Lys Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu905Lys Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Glu95del Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Glu976Gly Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly172Asp Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly210Cys Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly249Ser Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly298Glu Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gly425Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly472Cys Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly516Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly589Arg Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly589fs Single submitter familial cold autoinflammatory syndrome 4
  • p.Gly618Arg Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly618Trp Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Gly62Asp Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly632Asp Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly632fs Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gly632Ser Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly633_Ile634insGly Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.Gly681Arg Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Gly699Ala Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Gly702Glu Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly760Cys Single submitter Inborn genetic diseases ⚠
  • p.Gly86Glu Single submitter ⚠
  • p.Gly889Ser Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly894Cys Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Gly959Asp Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.Gly959Ser Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.Gly96Val Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.His110del Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • p.His146Tyr Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.His269Tyr Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.His364Tyr Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.His376Gln Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.His378Arg Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.His392Arg Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.His404Gln Single submitter familial cold autoinflammatory syndrome 4 ⚠
  • p.His462Tyr Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.His515Tyr Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.His560Gln Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.His744Arg Single submitter periodic fever-infantile enterocolitis-autoinflammatory syndrome ⚠
  • p.His744Gln Single submitter familial cold autoinflammatory syndrome 4 ⚠