NLRP3 — 1142 ClinVar variants

All ClinVar germline NLRP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 624 flagged for review →

26 Pathogenic · 11 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 77 Conflicting · 67 Benign · 37 Benign/Likely benign · 286 Likely benign · 612 Uncertain significance

Full NLRP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 624

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 27

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

NLRP3 p.Ala439Thr Pathogenic/Likely pathogenic Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Glu311Lys Pathogenic Multiple submitters
CINCA syndrome
NLRP3 p.Glu567Lys Pathogenic/Likely pathogenic Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ala374Asp Likely pathogenic Single submitter
familial cold autoinflammatory syndrome 1
NLRP3 p.Glu567Ala Likely pathogenic Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu567Gly Likely pathogenic Single submitter
NLRP3 p.Gly307Arg Likely pathogenic Single submitter
NLRP3 p.Gly307Val Pathogenic Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Gly326Glu Pathogenic Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Gly564Ser Likely pathogenic Single submitter
NLRP3 p.Gly569Ala Pathogenic Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Gly569Glu Likely pathogenic Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Gly755Ala Likely pathogenic Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ile172Thr Likely pathogenic Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ile334Val Likely pathogenic Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ile598Phe Likely pathogenic Single submitter
NLRP3 p.Leu264Val Likely pathogenic Single submitter
familial cold autoinflammatory syndrome 1
NLRP3 p.Lys355Asn Pathogenic Single submitter
NLRP3 p.Lys565Asn Likely pathogenic Single submitter
NLRP3 p.Met662Thr Likely pathogenic Single submitter
Muckle-Wells syndrome
NLRP3 p.Ser595Gly Likely pathogenic Single submitter
NLRP3 p.Tyr570Cys Pathogenic Single submitter
familial cold autoinflammatory syndrome 1
NLRP3 p.Val262Gly Likely pathogenic Single submitter
familial cold autoinflammatory syndrome 1
NLRP3 p.Arg10Met Pathogenic No assertion criteria
arteriovenous malformations of the brain
NLRP3 p.Gln600Arg Likely pathogenic No assertion criteria
pericardial effusion
NLRP3 p.Leu571Trp Likely pathogenic No assertion criteria
Muckle-Wells syndrome
NLRP3 p.Phe573Ser Pathogenic No assertion criteria
CINCA syndrome

Predictors agree, ClinVar conflicts 39

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

NLRP3 p.Ala225Val Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala712Ser Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala74Thr Conflicting Single submitter
NLRP3-related disorder
NLRP3 p.Ala75Glu Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala75Val Conflicting Single submitter
NLRP3-related disorder
NLRP3 p.Ala807Thr Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala871Thr Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala877Gly Conflicting Single submitter
hearing loss, autosomal dominant 34, with or without inflammation
NLRP3 p.Arg325Gln Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg488Lys Conflicting Single submitter
autoinflammatory syndrome
NLRP3 p.Arg918Gln Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asn911Ser Conflicting Single submitter
NLRP3-related disorder
NLRP3 p.Asp646Gly Conflicting Single submitter
Inborn genetic diseases
NLRP3 p.Asp700Asn Conflicting Single submitter
CINCA syndrome
NLRP3 p.Gln267Arg Conflicting Single submitter
familial cold autoinflammatory syndrome 1
NLRP3 p.Gln703Lys Conflicting Single submitter
autoinflammatory syndrome
NLRP3 p.Gln994His Conflicting Single submitter
Inborn genetic diseases
NLRP3 p.Glu457Asp Conflicting Single submitter
CINCA syndrome
NLRP3 p.Gly454Glu Conflicting Single submitter
Muckle-Wells syndrome
NLRP3 p.His213Arg Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.His49Arg Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.His711Leu Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ile313Thr Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ile313Val Conflicting Single submitter
autoinflammatory syndrome
NLRP3 p.Leu360Gln Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Lys355Arg Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Lys84Arg Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Pro315Leu Conflicting Single submitter
autoinflammatory syndrome
NLRP3 p.Pro707Gln Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ser100Leu Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ser159Ile Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ser196Asn Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ser726Gly Conflicting Single submitter
autoinflammatory syndrome
NLRP3 p.Thr193Met Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Thr436Ala Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Thr921Ala Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Val351Met Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Val758Ala Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Val890Leu Conflicting Single submitter
cryopyrin-associated periodic syndrome

Predictors lean, ClinVar uncertain 292

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 292

NLRP3 p.Ala225Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NLRP3 p.Ala323Val Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ala462Thr Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Arg168Gln Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Arg170Cys Uncertain significance Multiple submitters
autoinflammatory syndrome
NLRP3 p.Arg294Lys Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Arg548Cys Uncertain significance Multiple submitters
autoinflammatory syndrome
NLRP3 p.Arg548His Uncertain significance Multiple submitters
Inborn genetic diseases
NLRP3 p.Arg673Gln Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Arg697Gln Uncertain significance Multiple submitters
hearing loss, autosomal dominant 34, with or without inflammation
NLRP3 p.Arg757Thr Uncertain significance Multiple submitters
CINCA syndrome
NLRP3 p.Arg777Ser Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Arg98Cys Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Arg98Gly Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Asn163Ser Uncertain significance Multiple submitters
CINCA syndrome
NLRP3 p.Asn489His Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Asn976His Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Asp280Asn Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Asp361Asn Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Asp58Asn Uncertain significance Multiple submitters
autoinflammatory syndrome
NLRP3 p.Asp748Glu Uncertain significance Multiple submitters
CINCA syndrome
NLRP3 p.Asp753Asn Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Asp938Asn Uncertain significance Multiple submitters
autoinflammatory syndrome
NLRP3 p.Cys512Tyr Uncertain significance Multiple submitters
familial cold autoinflammatory syndrome 1
NLRP3 p.Cys671Ser Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Cys714Ser Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Gln178Leu Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Gln248Arg Uncertain significance Multiple submitters
CINCA syndrome
NLRP3 p.Gln493Arg Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Gln796Arg Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Glu1031Gln Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Glu638Lys Uncertain significance Multiple submitters
NLRP3-related disorder
NLRP3 p.Gly117Asp Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Gly189Ser Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Gly301Cys Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Gly326Val Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Gly696Val Uncertain significance Multiple submitters
NLRP3 p.Gly767Ser Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Gly779Asp Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Gly812Ala Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Gly919Asp Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.His26Leu Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.His365Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
NLRP3 p.His458Gln Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.His683Tyr Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.His954Tyr Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Ile127Val Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ile57Val Uncertain significance Multiple submitters
CINCA syndrome
NLRP3 p.Leu329Val Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Leu396Val Uncertain significance Multiple submitters
Inborn genetic diseases
NLRP3 p.Leu52Val Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Leu604Gln Uncertain significance Multiple submitters
Inborn genetic diseases
NLRP3 p.Leu982Val Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Lys1013Glu Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Lys129Arg Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Lys137Asn Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Lys479Asn Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Lys592Arg Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Lys613Asn Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Lys971Thr Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Phe207Ser Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Phe648Leu Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Pro1032His Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Pro1032Thr Uncertain significance Multiple submitters
hearing loss, autosomal dominant 34, with or without inflammation
NLRP3 p.Pro281Ala Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Pro545Ala Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ser110Asn Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ser144Asn Uncertain significance Multiple submitters
Inborn genetic diseases
NLRP3 p.Ser385Ala Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ser385Pro Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ser726Thr Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ser904Leu Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ser965Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NLRP3 p.Thr438Ser Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Thr557Ala Uncertain significance Multiple submitters
NLRP3-related disorder
NLRP3 p.Thr762Met Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Thr851Ala Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Tyr1010Ser Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Val142Met Uncertain significance Multiple submitters
familial cold autoinflammatory syndrome 1
NLRP3 p.Val289Met Uncertain significance Multiple submitters
autoinflammatory syndrome
NLRP3 p.Val416Met Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Val582Glu Uncertain significance Multiple submitters
keratitis fugax hereditaria
NLRP3 p.Val943Leu Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Val984Asp Uncertain significance Multiple submitters
familial cold autoinflammatory syndrome 1
NLRP3 p.Ala1015Val Uncertain significance Single submitter
autoinflammatory syndrome
NLRP3 p.Ala226Thr Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala234Thr Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala242Glu Uncertain significance Single submitter
Inborn genetic diseases
NLRP3 p.Ala242Val Uncertain significance Single submitter
NLRP3 p.Ala392Glu Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala472Glu Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala529Thr Uncertain significance Single submitter
Inborn genetic diseases
NLRP3 p.Ala53Val Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala807Asp Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala840Glu Uncertain significance Single submitter
NLRP3 p.Ala871Ser Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala901Asp Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala901Val Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala97Glu Uncertain significance Single submitter
Inborn genetic diseases
NLRP3 p.Ala97Thr Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg170His Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg335Lys Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg376Gly Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg452Gln Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg502Gly Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg502Lys Uncertain significance Single submitter
NLRP3 p.Arg541Ser Uncertain significance Single submitter
NLRP3 p.Arg757Lys Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg771Gln Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg857Lys Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg87Lys Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asn101Lys Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asn101Ser Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asn163Lys Uncertain significance Single submitter
Inborn genetic diseases
NLRP3 p.Asn400Lys Uncertain significance Single submitter
Muckle-Wells syndrome
NLRP3 p.Asn489Lys Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asn543Asp Uncertain significance Single submitter
NLRP3 p.Asn654Asp Uncertain significance Single submitter
NLRP3 p.Asn654Ser Uncertain significance Single submitter
NLRP3 p.Asn684Asp Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asn684Lys Uncertain significance Single submitter
Muckle-Wells syndrome
NLRP3 p.Asn720Thr Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asn879Asp Uncertain significance Single submitter
NLRP3 p.Asp109Gly Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp211Gly Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp300His Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp802Gly Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp802Tyr Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp947Glu Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp978Asn Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Cys468Arg Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Cys714Arg Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Cys760Arg Uncertain significance Single submitter
NLRP3 p.Cys785Arg Uncertain significance Single submitter
lung adenocarcinoma
NLRP3 p.Cys825Phe Uncertain significance Single submitter
NLRP3 p.Gln1020Lys Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Gln601Glu Uncertain significance Single submitter
Inborn genetic diseases
NLRP3 p.Gln625Lys Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Gln703His Uncertain significance Single submitter
NLRP3 p.Gln993Arg Uncertain significance Single submitter
NLRP3 p.Glu1005Lys Uncertain significance Single submitter
Muckle-Wells syndrome
NLRP3 p.Glu1011Lys Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu120Asp Uncertain significance Single submitter
Inborn genetic diseases
NLRP3 p.Glu180Asp Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu204Asp Uncertain significance Single submitter
NLRP3 p.Glu28Gln Uncertain significance Single submitter
NLRP3 p.Glu304Asp Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu401Lys Uncertain significance Single submitter
NLRP3 p.Glu425Ala Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu513Lys Uncertain significance Single submitter
cryopyrin-associated periodic syndrome

Predictors split 266

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 266

NLRP3 p.Ala352Thr Likely pathogenic Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ala439Val Pathogenic/Likely pathogenic Multiple submitters
autoinflammatory syndrome
NLRP3 p.Ala495Val Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ala846Pro Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Ala901Pro Uncertain significance Multiple submitters
Inborn genetic diseases
NLRP3 p.Arg155Cys Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Arg176Trp Uncertain significance Multiple submitters
CINCA syndrome
NLRP3 p.Arg294Gly Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Arg364Trp Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Arg488Trp Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Arg5Cys Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Arg5His Uncertain significance Multiple submitters
Inborn genetic diseases
NLRP3 p.Arg673Trp Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Arg729Trp Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Arg777His Uncertain significance Multiple submitters
CINCA syndrome
NLRP3 p.Arg970Gln Uncertain significance Multiple submitters
Inborn genetic diseases
NLRP3 p.Asp29Val Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Asp386Glu Uncertain significance Multiple submitters
Inborn genetic diseases
NLRP3 p.Asp486Asn Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Asp646Tyr Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Asp844Tyr Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Cys461Tyr Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Cys841Gly Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Cys996Ser Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Gln507Arg Uncertain significance Multiple submitters
Inborn genetic diseases
NLRP3 p.Glu341Lys Uncertain significance Multiple submitters
autoinflammatory syndrome
NLRP3 p.Glu605Val Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Glu690Lys Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.His175Tyr Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ile149Thr Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ile368Leu Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ile57Met Uncertain significance Multiple submitters
Inborn genetic diseases
NLRP3 p.Ile610Thr Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Leu239Met Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Leu239Phe Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Leu273Val Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Leu445Phe Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Leu798Met Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Leu830Ile Likely benign Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Leu889Phe Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Leu894Phe Uncertain significance Multiple submitters
keratitis fugax hereditaria
NLRP3 p.Lys1023Gln Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Lys928Asn Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Lys940Arg Likely benign Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Met406Thr Pathogenic Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Phe640Val Uncertain significance Multiple submitters
keratitis fugax hereditaria
NLRP3 p.Pro552Ala Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Pro649Leu Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Pro880Ser Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ser243Leu Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ser426Gly Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Ser740Asn Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ser781Leu Uncertain significance Multiple submitters
CINCA syndrome
NLRP3 p.Ser793Gly Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ser968Gly Uncertain significance Multiple submitters
autoinflammatory syndrome
NLRP3 p.Thr1027Ile Uncertain significance Multiple submitters
Inborn genetic diseases
NLRP3 p.Thr405Pro Pathogenic/Likely pathogenic Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Thr657Asn Uncertain significance Multiple submitters
CINCA syndrome
NLRP3 p.Thr895Met Uncertain significance Multiple submitters
Muckle-Wells syndrome
NLRP3 p.Thr952Met Benign/Likely benign Multiple submitters
autoinflammatory syndrome
NLRP3 p.Val556Met Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Val641Met Uncertain significance Multiple submitters
cryopyrin-associated periodic syndrome
NLRP3 p.Ala242Thr Uncertain significance Single submitter
Inborn genetic diseases
NLRP3 p.Ala352Ser Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala388Val Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala393Gly Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala47Ser Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala614Thr Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ala65Gly Conflicting Single submitter
Muckle-Wells syndrome
NLRP3 p.Ala864Val Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg135Gly Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg135His Conflicting Single submitter
autoinflammatory syndrome
NLRP3 p.Arg135Pro Uncertain significance Single submitter
Muckle-Wells syndrome
NLRP3 p.Arg165His Uncertain significance Single submitter
Muckle-Wells syndrome
NLRP3 p.Arg250Thr Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg325Gly Uncertain significance Single submitter
Muckle-Wells syndrome
NLRP3 p.Arg335Gly Uncertain significance Single submitter
NLRP3 p.Arg364Gln Uncertain significance Single submitter
Muckle-Wells syndrome
NLRP3 p.Arg452Trp Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg554Gln Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg771Trp Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Arg78Ser Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asn477Asp Uncertain significance Single submitter
NLRP3 p.Asn60Ser Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asn769Ser Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asn826His Uncertain significance Single submitter
NLRP3 p.Asn909Asp Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp19His Likely pathogenic Single submitter
keratitis fugax hereditaria
NLRP3 p.Asp208Gly Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp210Asn Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp210Glu Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp249His Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp496Asn Uncertain significance Single submitter
lung adenocarcinoma
NLRP3 p.Asp496Val Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp51Asn Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp639Tyr Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp753Val Uncertain significance Single submitter
Muckle-Wells syndrome
NLRP3 p.Asp787Asn Likely benign Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp810Asn Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Asp924Glu Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Cys148Gly Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Cys317Gly Uncertain significance Single submitter
Muckle-Wells syndrome
NLRP3 p.Cys413Gly Uncertain significance Single submitter
Muckle-Wells syndrome
NLRP3 p.Cys413Ser Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Cys842Phe Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Cys874Ser Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Cys988Ser Uncertain significance Single submitter
NLRP3 p.Gln398Arg Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Gln636Arg Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Gln967His Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu182Gln Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu182Val Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu204Lys Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu212Gly Uncertain significance Single submitter
Muckle-Wells syndrome
NLRP3 p.Glu215Gly Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu261Lys Uncertain significance Single submitter
Muckle-Wells syndrome
NLRP3 p.Glu261Val Uncertain significance Single submitter
Inborn genetic diseases
NLRP3 p.Glu324Lys Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu378Lys Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu387Lys Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu539Gln Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu62Val Uncertain significance Single submitter
Muckle-Wells syndrome
NLRP3 p.Glu688Lys Uncertain significance Single submitter
CINCA syndrome
NLRP3 p.Glu689Lys Uncertain significance Single submitter
NLRP3 p.Glu691Lys Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu800Val Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Glu945Asp Uncertain significance Single submitter
Muckle-Wells syndrome
NLRP3 p.Gly35Val Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Gly569Val Likely pathogenic Single submitter
Inborn genetic diseases
NLRP3 p.Gly752Glu Uncertain significance Single submitter
CINCA syndrome
NLRP3 p.Gly755Glu Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Gly809Cys Uncertain significance Single submitter
NLRP3 p.Gly809Ser Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Gly888Ala Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Gly923Arg Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Gly933Val Uncertain significance Single submitter
Muckle-Wells syndrome
NLRP3 p.His312Tyr Uncertain significance Single submitter
Inborn genetic diseases
NLRP3 p.His490Leu Uncertain significance Single submitter
NLRP3 p.His49Tyr Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.His914Tyr Uncertain significance Single submitter
NLRP3 p.His936Arg Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ile201Ser Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ile397Thr Uncertain significance Single submitter
autoinflammatory syndrome
NLRP3 p.Ile480Met Uncertain significance Single submitter
Inborn genetic diseases
NLRP3 p.Ile610Phe Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Ile651Thr Uncertain significance Single submitter
Inborn genetic diseases
NLRP3 p.Ile72Asn Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Leu1016Phe Conflicting Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Leu171Phe Uncertain significance Single submitter
cryopyrin-associated periodic syndrome
NLRP3 p.Leu333Ile Uncertain significance Single submitter

All NLRP3 variants

Pathogenic 26

p.Arg260Ter Multiple submitters cryopyrin-associated periodic syndrome
p.Asp303Asn Multiple submitters cryopyrin-associated periodic syndrome
p.Glu304Lys Multiple submitters cryopyrin-associated periodic syndrome
p.Glu311Lys Multiple submitters CINCA syndrome ⚠
p.Leu353Pro Multiple submitters cryopyrin-associated periodic syndrome
p.Met406Thr Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Thr348Met Multiple submitters autoinflammatory syndrome
p.Arg260Pro Single submitter cryopyrin-associated periodic syndrome
p.Asp303Gly Single submitter cryopyrin-associated periodic syndrome
p.Asp303His Single submitter cryopyrin-associated periodic syndrome
p.Glu525Lys Single submitter cryopyrin-associated periodic syndrome
p.Gly307Val Single submitter cryopyrin-associated periodic syndrome ⚠
p.Gly326Glu Single submitter cryopyrin-associated periodic syndrome ⚠
p.Gly569Ala Single submitter cryopyrin-associated periodic syndrome ⚠
p.Gly569Arg Single submitter
p.Gly755Arg Single submitter cryopyrin-associated periodic syndrome
p.Lys355Asn Single submitter ⚠
p.Lys435Asn Single submitter cryopyrin-associated periodic syndrome ⚠
p.Met659Arg Single submitter cryopyrin-associated periodic syndrome ⚠
p.Phe302Cys Single submitter cryopyrin-associated periodic syndrome
p.Phe523Cys Single submitter cryopyrin-associated periodic syndrome
p.Phe566Leu Single submitter cryopyrin-associated periodic syndrome ⚠
p.Tyr570Cys Single submitter familial cold autoinflammatory syndrome 1 ⚠
p.Arg10Met No assertion criteria arteriovenous malformations of the brain ⚠
p.Phe309Ser No assertion criteria CINCA syndrome ⚠
p.Phe573Ser No assertion criteria CINCA syndrome ⚠

Pathogenic/Likely pathogenic 11

p.Ala352Val Multiple submitters cryopyrin-associated periodic syndrome
p.Ala439Thr Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ala439Val Multiple submitters autoinflammatory syndrome ⚠
p.Arg260Trp Multiple submitters cryopyrin-associated periodic syndrome
p.Glu567Lys Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Gly301Asp Multiple submitters cryopyrin-associated periodic syndrome
p.Leu305Pro Multiple submitters autoinflammatory syndrome
p.Thr405Pro Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Thr436Ile Multiple submitters cryopyrin-associated periodic syndrome
p.Tyr859Cys Multiple submitters CINCA syndrome
p.Tyr859His Multiple submitters Muckle-Wells syndrome

Likely pathogenic 26

p.Ala352Thr Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ala374Asp Single submitter familial cold autoinflammatory syndrome 1 ⚠
p.Asp19His Single submitter keratitis fugax hereditaria ⚠
p.Asp303Ala Single submitter
p.Glu567Ala Single submitter cryopyrin-associated periodic syndrome ⚠
p.Glu567Gly Single submitter ⚠
p.Glu627Gly Single submitter autoinflammatory syndrome
p.Gly307Arg Single submitter ⚠
p.Gly564Ser Single submitter ⚠
p.Gly569Glu Single submitter cryopyrin-associated periodic syndrome ⚠
p.Gly569Val Single submitter Inborn genetic diseases ⚠
p.Gly755Ala Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ile172Thr Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ile334Val Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ile598Phe Single submitter ⚠
p.Leu264Val Single submitter familial cold autoinflammatory syndrome 1 ⚠
p.Leu305Arg Single submitter
p.Lys565Asn Single submitter ⚠
p.Met406Ile Single submitter cryopyrin-associated periodic syndrome
p.Met521Lys Single submitter autoinflammatory syndrome ⚠
p.Met662Thr Single submitter Muckle-Wells syndrome ⚠
p.Ser595Gly Single submitter ⚠
p.Tyr441Cys Single submitter ⚠
p.Val262Gly Single submitter familial cold autoinflammatory syndrome 1 ⚠
p.Gln600Arg No assertion criteria pericardial effusion ⚠
p.Leu571Trp No assertion criteria Muckle-Wells syndrome ⚠

Conflicting classifications of pathogenicity 77

c.2493-8T>A Single submitter cryopyrin-associated periodic syndrome
c.-122T>C Single submitter Muckle-Wells syndrome
p.Ala225Val Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala439= Single submitter cryopyrin-associated periodic syndrome
p.Ala528= Single submitter autoinflammatory syndrome
p.Ala65Gly Single submitter Muckle-Wells syndrome ⚠
p.Ala712Ser Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala74Thr Single submitter NLRP3-related disorder ⚠
p.Ala75Glu Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala75Val Single submitter NLRP3-related disorder ⚠
p.Ala807Thr Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala871Thr Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala877Gly Single submitter hearing loss, autosomal dominant 34, with or without inflammation ⚠
p.Arg10= Single submitter Muckle-Wells syndrome
p.Arg135His Single submitter autoinflammatory syndrome ⚠
p.Arg325Gln Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg364= Single submitter CINCA syndrome
p.Arg488Lys Single submitter autoinflammatory syndrome ⚠
p.Arg857= Single submitter cryopyrin-associated periodic syndrome
p.Arg918Gln Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asn911Ser Single submitter NLRP3-related disorder ⚠
p.Asp210Asn Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp646Gly Single submitter Inborn genetic diseases ⚠
p.Asp700Asn Single submitter CINCA syndrome ⚠
p.Cys461= Single submitter cryopyrin-associated periodic syndrome
p.Cys835= Single submitter familial cold autoinflammatory syndrome 1
p.Gln267Arg Single submitter familial cold autoinflammatory syndrome 1 ⚠
p.Gln423= Single submitter autoinflammatory syndrome
p.Gln703Lys Single submitter autoinflammatory syndrome ⚠
p.Gln994His Single submitter Inborn genetic diseases ⚠
p.Glu457Asp Single submitter CINCA syndrome ⚠
p.Glu945= Single submitter cryopyrin-associated periodic syndrome
p.Gly454Glu Single submitter Muckle-Wells syndrome ⚠
p.Gly809Ser Single submitter cryopyrin-associated periodic syndrome ⚠
p.Gly923= Single submitter Muckle-Wells syndrome
p.His213Arg Single submitter cryopyrin-associated periodic syndrome ⚠
p.His49Arg Single submitter cryopyrin-associated periodic syndrome ⚠
p.His711Leu Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ile313Thr Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ile313Val Single submitter autoinflammatory syndrome ⚠
p.Ile415= Single submitter Muckle-Wells syndrome
p.Leu1016Phe Single submitter cryopyrin-associated periodic syndrome ⚠
p.Leu353= Single submitter cryopyrin-associated periodic syndrome
p.Leu360Gln Single submitter cryopyrin-associated periodic syndrome ⚠
p.Leu594= Single submitter Muckle-Wells syndrome
p.Leu706= Single submitter CINCA syndrome
p.Leu808= Single submitter autoinflammatory syndrome
p.Lys202= Single submitter autoinflammatory syndrome
p.Lys355Arg Single submitter cryopyrin-associated periodic syndrome ⚠
p.Lys550= Single submitter keratitis fugax hereditaria
p.Lys84Arg Single submitter cryopyrin-associated periodic syndrome ⚠
p.Met659Thr Single submitter cryopyrin-associated periodic syndrome ⚠
p.Met68Thr Single submitter Muckle-Wells syndrome ⚠
p.Phe786= Single submitter cryopyrin-associated periodic syndrome
p.Pro315Leu Single submitter autoinflammatory syndrome ⚠
p.Pro707Gln Single submitter cryopyrin-associated periodic syndrome ⚠
p.Pro90Leu Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ser100Leu Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ser159Ile Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ser196Asn Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ser547Cys Single submitter Muckle-Wells syndrome ⚠
p.Ser553= Single submitter cryopyrin-associated periodic syndrome
p.Ser726Gly Single submitter autoinflammatory syndrome ⚠
p.Ser896Pro Single submitter cryopyrin-associated periodic syndrome ⚠
p.Thr193Met Single submitter cryopyrin-associated periodic syndrome ⚠
p.Thr436Ala Single submitter cryopyrin-associated periodic syndrome ⚠
p.Thr542Met Single submitter CINCA syndrome ⚠
p.Thr851= Single submitter cryopyrin-associated periodic syndrome
p.Thr895Lys Single submitter cryopyrin-associated periodic syndrome ⚠
p.Thr913Met Single submitter Muckle-Wells syndrome ⚠
p.Thr921Ala Single submitter cryopyrin-associated periodic syndrome ⚠
p.Tyr441= Single submitter autoinflammatory syndrome
p.Val198Met Single submitter autoinflammatory syndrome ⚠
p.Val351Met Single submitter cryopyrin-associated periodic syndrome ⚠
p.Val70Met Single submitter autoinflammatory syndrome ⚠
p.Val758Ala Single submitter cryopyrin-associated periodic syndrome ⚠
p.Val890Leu Single submitter cryopyrin-associated periodic syndrome ⚠

Benign 67

c.2150+59G>A Multiple submitters
c.2321+85A>G Multiple submitters
c.2492+54C>T Multiple submitters
c.2493-40G>A Multiple submitters
c.2493-44C>T Multiple submitters
c.277+83_277+85del Multiple submitters familial cold autoinflammatory syndrome 1
c.277+89T>A Multiple submitters
c.278-45T>C Multiple submitters cryopyrin-associated periodic syndrome
c.2834+12G>C Multiple submitters cryopyrin-associated periodic syndrome
c.3005+44C>A Multiple submitters
c.398-15C>T Multiple submitters familial cold autoinflammatory syndrome 1
c.-231G>A Multiple submitters Muckle-Wells syndrome
c.-40G>T Multiple submitters autoinflammatory syndrome
c.-411T>C Multiple submitters familial cold autoinflammatory syndrome 1
c.-561T>G Multiple submitters Muckle-Wells syndrome
c.*230G>C Multiple submitters autoinflammatory syndrome
c.*396T>A Multiple submitters Muckle-Wells syndrome
c.*489C>T Multiple submitters CINCA syndrome
p.Ala242= Multiple submitters keratitis fugax hereditaria
p.Arg260= Multiple submitters cryopyrin-associated periodic syndrome
p.Ile788= Multiple submitters cryopyrin-associated periodic syndrome
p.Leu534= Multiple submitters autoinflammatory syndrome
p.Ser434= Multiple submitters cryopyrin-associated periodic syndrome
p.Thr348= Multiple submitters autoinflammatory syndrome
p.Tyr141= Multiple submitters Muckle-Wells syndrome
c.2150+77C>G Single submitter
c.2150+98A>G Single submitter
c.2151-5C>G Single submitter
c.2322-103A>G Single submitter
c.2322-108T>C Single submitter
c.2322-124A>G Single submitter
c.2322-129A>G Single submitter
c.2322-147G>C Single submitter
c.2322-155T>C Single submitter
c.2322-166G>A Single submitter
c.2322-182G>A Single submitter
c.2322-37_2322-36insTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGT Single submitter
c.2322-40G>A Single submitter
c.2322-41_2322-40insAT Single submitter
c.2322-56G>A Single submitter
c.2322-57T>C Single submitter
c.2322-61G>A Single submitter
c.2322-66C>T Single submitter
c.2322-68T>C Single submitter
c.2322-71T>G Single submitter
c.2322-76C>T Single submitter
c.2322-82G>A Single submitter
c.2322-87A>G Single submitter
c.2322-91C>T Single submitter
c.2322-92T>C Single submitter
c.2322-99C>T Single submitter
c.2493-202T>C Single submitter cryopyrin-associated periodic syndrome
c.278-10del Single submitter cryopyrin-associated periodic syndrome
c.278-10dup Single submitter cryopyrin-associated periodic syndrome
c.2834+37T>C Single submitter
c.2835-10del Single submitter
c.398-49C>T Single submitter
c.-533C>T Single submitter Muckle-Wells syndrome
c.-543A>T Single submitter Muckle-Wells syndrome
c.-79C>T Single submitter
c.*116G>T Single submitter Muckle-Wells syndrome
c.*1G>T Single submitter
p.Glu341Ter Single submitter CINCA syndrome
p.Gly866= Single submitter Muckle-Wells syndrome
p.His954= Single submitter
p.Leu270= Single submitter
p.Phe518= Single submitter

Benign/Likely benign 37

c.2150+16T>C Multiple submitters cryopyrin-associated periodic syndrome
c.2151-7T>C Multiple submitters cryopyrin-associated periodic syndrome
c.277+11G>A Multiple submitters Muckle-Wells syndrome
c.3005+25C>T Multiple submitters cryopyrin-associated periodic syndrome
c.3005+7G>A Multiple submitters cryopyrin-associated periodic syndrome
c.397+7G>A Multiple submitters autoinflammatory syndrome
c.398-5C>T Multiple submitters Muckle-Wells syndrome
p.Ala69= Multiple submitters Muckle-Wells syndrome
p.Arg541= Multiple submitters cryopyrin-associated periodic syndrome
p.Arg729= Multiple submitters Muckle-Wells syndrome
p.Asn400= Multiple submitters cryopyrin-associated periodic syndrome
p.Asp310= Multiple submitters cryopyrin-associated periodic syndrome
p.Asp555= Multiple submitters cryopyrin-associated periodic syndrome
p.Asp80= Multiple submitters autoinflammatory syndrome
p.Glu373= Multiple submitters autoinflammatory syndrome
p.Gly454= Multiple submitters cryopyrin-associated periodic syndrome
p.Gly819= Multiple submitters cryopyrin-associated periodic syndrome
p.His458= Multiple submitters autoinflammatory syndrome
p.His463= Multiple submitters kidney disorder
p.Ile188= Multiple submitters cryopyrin-associated periodic syndrome
p.Ile480= Multiple submitters CINCA syndrome
p.Leu344= Multiple submitters autoinflammatory syndrome
p.Leu411= Multiple submitters cryopyrin-associated periodic syndrome
p.Leu467= Multiple submitters Muckle-Wells syndrome
p.Leu549= Multiple submitters Muckle-Wells syndrome
p.Phe640= Multiple submitters CINCA syndrome
p.Phe811= Multiple submitters Muckle-Wells syndrome
p.Pro340= Multiple submitters cryopyrin-associated periodic syndrome
p.Ser100= Multiple submitters cryopyrin-associated periodic syndrome
p.Ser263= Multiple submitters autoinflammatory syndrome
p.Ser738= Multiple submitters Muckle-Wells syndrome
p.Ser781= Multiple submitters cryopyrin-associated periodic syndrome
p.Ser903= Multiple submitters keratitis fugax hereditaria
p.Thr103= Multiple submitters Muckle-Wells syndrome
p.Thr724= Multiple submitters cryopyrin-associated periodic syndrome
p.Thr952Met Multiple submitters autoinflammatory syndrome ⚠
p.Tyr633= Multiple submitters cryopyrin-associated periodic syndrome

Likely benign 286

c.2150+12C>T Multiple submitters cryopyrin-associated periodic syndrome
c.2151-11C>T Multiple submitters cryopyrin-associated periodic syndrome
c.2151-9A>C Multiple submitters cryopyrin-associated periodic syndrome
c.2321+11G>A Multiple submitters Muckle-Wells syndrome
c.2321+12T>A Multiple submitters cryopyrin-associated periodic syndrome
c.2322-6A>G Multiple submitters cryopyrin-associated periodic syndrome
c.2492+13C>T Multiple submitters cryopyrin-associated periodic syndrome
c.2492+8G>A Multiple submitters autoinflammatory syndrome
c.2835-7T>G Multiple submitters cryopyrin-associated periodic syndrome
p.Ala614= Multiple submitters cryopyrin-associated periodic syndrome
p.Ala75= Multiple submitters cryopyrin-associated periodic syndrome
p.Ala901= Multiple submitters Muckle-Wells syndrome
p.Asn806= Multiple submitters cryopyrin-associated periodic syndrome
p.Asp17= Multiple submitters cryopyrin-associated periodic syndrome
p.Asp300= Multiple submitters cryopyrin-associated periodic syndrome
p.Cys512= Multiple submitters Muckle-Wells syndrome
p.Cys704= Multiple submitters cryopyrin-associated periodic syndrome
p.Glu83= Multiple submitters cryopyrin-associated periodic syndrome
p.Glu862Gln Multiple submitters cryopyrin-associated periodic syndrome
p.Gly980= Multiple submitters autoinflammatory syndrome
p.His175= Multiple submitters cryopyrin-associated periodic syndrome
p.His49= Multiple submitters keratitis fugax hereditaria
p.Ile125= Multiple submitters cryopyrin-associated periodic syndrome
p.Ile232= Multiple submitters cryopyrin-associated periodic syndrome
p.Ile37= Multiple submitters
p.Ile57= Multiple submitters cryopyrin-associated periodic syndrome
p.Leu830Ile Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Leu858= Multiple submitters cryopyrin-associated periodic syndrome
p.Lys337= Multiple submitters cryopyrin-associated periodic syndrome
p.Lys377= Multiple submitters cryopyrin-associated periodic syndrome
p.Lys435= Multiple submitters cryopyrin-associated periodic syndrome
p.Lys617= Multiple submitters cryopyrin-associated periodic syndrome
p.Lys940Arg Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Phe1030= Multiple submitters cryopyrin-associated periodic syndrome
p.Phe302= Multiple submitters cryopyrin-associated periodic syndrome
p.Phe73= Multiple submitters Muckle-Wells syndrome
p.Pro209= Multiple submitters autoinflammatory syndrome
p.Pro686= Multiple submitters cryopyrin-associated periodic syndrome
p.Ser123= Multiple submitters cryopyrin-associated periodic syndrome
p.Ser243= Multiple submitters cryopyrin-associated periodic syndrome
p.Ser372= Multiple submitters cryopyrin-associated periodic syndrome
p.Ser747= Multiple submitters autoinflammatory syndrome
p.Thr193Lys Multiple submitters hearing loss, autosomal dominant 34, with or without inflammation
p.Thr438= Multiple submitters cryopyrin-associated periodic syndrome
p.Thr913= Multiple submitters cryopyrin-associated periodic syndrome
p.Thr952= Multiple submitters CINCA syndrome
p.Val544Ile Multiple submitters Inborn genetic diseases
p.Val870= Multiple submitters cryopyrin-associated periodic syndrome
c.2150+13G>A Single submitter cryopyrin-associated periodic syndrome
c.2150+15C>T Single submitter cryopyrin-associated periodic syndrome
c.2150+20A>C Single submitter cryopyrin-associated periodic syndrome
c.2150+9A>G Single submitter cryopyrin-associated periodic syndrome
c.2151-16T>A Single submitter
c.2321+10C>T Single submitter cryopyrin-associated periodic syndrome
c.2321+15A>G Single submitter cryopyrin-associated periodic syndrome
c.2321+16T>C Single submitter cryopyrin-associated periodic syndrome
c.2321+9C>T Single submitter cryopyrin-associated periodic syndrome
c.2322-14T>A Single submitter cryopyrin-associated periodic syndrome
c.2322-14T>G Single submitter cryopyrin-associated periodic syndrome
c.2322-17C>A Single submitter cryopyrin-associated periodic syndrome
c.2322-19C>G Single submitter cryopyrin-associated periodic syndrome
c.2322-20C>A Single submitter cryopyrin-associated periodic syndrome
c.2322-6A>T Single submitter
c.2322-7C>T Single submitter cryopyrin-associated periodic syndrome
c.2322-8G>C Single submitter cryopyrin-associated periodic syndrome
c.2492+10G>A Single submitter cryopyrin-associated periodic syndrome
c.2492+12C>A Single submitter cryopyrin-associated periodic syndrome
c.2492+13C>G Single submitter cryopyrin-associated periodic syndrome
c.2492+14G>A Single submitter cryopyrin-associated periodic syndrome
c.2492+7C>A Single submitter
c.2492+7C>T Single submitter cryopyrin-associated periodic syndrome
c.2492+8G>C Single submitter cryopyrin-associated periodic syndrome
c.2493-11C>G Single submitter cryopyrin-associated periodic syndrome
c.2493-13A>G Single submitter cryopyrin-associated periodic syndrome
c.2493-7A>G Single submitter cryopyrin-associated periodic syndrome
c.2663+12T>C Single submitter cryopyrin-associated periodic syndrome
c.2663+15G>A Single submitter cryopyrin-associated periodic syndrome
c.2663+15G>C Single submitter cryopyrin-associated periodic syndrome
c.2663+16T>G Single submitter cryopyrin-associated periodic syndrome
c.2663+17G>A Single submitter cryopyrin-associated periodic syndrome
c.2663+17G>T Single submitter cryopyrin-associated periodic syndrome
c.2663+7C>T Single submitter cryopyrin-associated periodic syndrome
c.2664-14C>T Single submitter cryopyrin-associated periodic syndrome
c.2664-16C>T Single submitter cryopyrin-associated periodic syndrome
c.277+11G>C Single submitter cryopyrin-associated periodic syndrome
c.277+13A>C Single submitter cryopyrin-associated periodic syndrome
c.277+16A>G Single submitter cryopyrin-associated periodic syndrome
c.277+17C>T Single submitter cryopyrin-associated periodic syndrome
c.277+20T>C Single submitter cryopyrin-associated periodic syndrome
c.278-10T>C Single submitter cryopyrin-associated periodic syndrome
c.278-16T>C Single submitter cryopyrin-associated periodic syndrome
c.278-17T>C Single submitter cryopyrin-associated periodic syndrome
c.278-6T>C Single submitter cryopyrin-associated periodic syndrome
c.2834+13G>C Single submitter cryopyrin-associated periodic syndrome
c.2835-12C>T Single submitter cryopyrin-associated periodic syndrome
c.2835-14C>T Single submitter cryopyrin-associated periodic syndrome
c.2835-9T>C Single submitter cryopyrin-associated periodic syndrome
c.3005+10C>T Single submitter cryopyrin-associated periodic syndrome
c.3005+11T>A Single submitter cryopyrin-associated periodic syndrome
c.3005+9G>A Single submitter cryopyrin-associated periodic syndrome
c.3006-14A>G Single submitter cryopyrin-associated periodic syndrome
c.3006-14A>T Single submitter cryopyrin-associated periodic syndrome
c.3006-18_3006-15del Single submitter cryopyrin-associated periodic syndrome
c.397+11G>T Single submitter cryopyrin-associated periodic syndrome
c.397+14G>T Single submitter
c.397+17G>T Single submitter cryopyrin-associated periodic syndrome
c.397+7G>T Single submitter cryopyrin-associated periodic syndrome
c.398-11C>A Single submitter cryopyrin-associated periodic syndrome
c.398-13G>A Single submitter cryopyrin-associated periodic syndrome
c.398-19C>G Single submitter cryopyrin-associated periodic syndrome
c.398-4G>A Single submitter cryopyrin-associated periodic syndrome
c.398-4G>T Single submitter cryopyrin-associated periodic syndrome
c.398-9T>G Single submitter cryopyrin-associated periodic syndrome
p.Ala225= Single submitter cryopyrin-associated periodic syndrome
p.Ala308= Single submitter cryopyrin-associated periodic syndrome
p.Ala323= Single submitter cryopyrin-associated periodic syndrome
p.Ala342= Single submitter cryopyrin-associated periodic syndrome
p.Ala392= Single submitter cryopyrin-associated periodic syndrome
p.Ala495= Single submitter cryopyrin-associated periodic syndrome
p.Ala53= Single submitter cryopyrin-associated periodic syndrome
p.Ala65= Single submitter cryopyrin-associated periodic syndrome
p.Ala846= Single submitter cryopyrin-associated periodic syndrome
p.Ala864= Single submitter cryopyrin-associated periodic syndrome
p.Ala9= Single submitter cryopyrin-associated periodic syndrome
p.Ala97= Single submitter cryopyrin-associated periodic syndrome
p.Arg176= Single submitter cryopyrin-associated periodic syndrome
p.Arg349= Single submitter cryopyrin-associated periodic syndrome
p.Arg452= Single submitter cryopyrin-associated periodic syndrome
p.Arg5= Single submitter cryopyrin-associated periodic syndrome
p.Arg586= Single submitter cryopyrin-associated periodic syndrome
p.Arg777= Single submitter cryopyrin-associated periodic syndrome
p.Arg98His Single submitter cryopyrin-associated periodic syndrome
p.Asn543= Single submitter cryopyrin-associated periodic syndrome
p.Asn60= Single submitter cryopyrin-associated periodic syndrome
p.Asp109= Single submitter cryopyrin-associated periodic syndrome
p.Asp211= Single submitter cryopyrin-associated periodic syndrome
p.Asp249= Single submitter
p.Asp280= Single submitter cryopyrin-associated periodic syndrome
p.Asp29= Single submitter
p.Asp327= Single submitter cryopyrin-associated periodic syndrome
p.Asp496= Single submitter
p.Asp787Asn Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp802= Single submitter cryopyrin-associated periodic syndrome
p.Asp938= Single submitter cryopyrin-associated periodic syndrome
p.Asp947= Single submitter cryopyrin-associated periodic syndrome
p.Cys106= Single submitter cryopyrin-associated periodic syndrome
p.Cys278= Single submitter cryopyrin-associated periodic syndrome
p.Cys317= Single submitter
p.Cys36= Single submitter cryopyrin-associated periodic syndrome
p.Cys407= Single submitter cryopyrin-associated periodic syndrome
p.Cys468= Single submitter cryopyrin-associated periodic syndrome
p.Cys6= Single submitter cryopyrin-associated periodic syndrome
p.Cys825= Single submitter cryopyrin-associated periodic syndrome
p.Cys841= Single submitter cryopyrin-associated periodic syndrome
p.Cys898= Single submitter
p.Gln179= Single submitter cryopyrin-associated periodic syndrome
p.Gln43= Single submitter cryopyrin-associated periodic syndrome
p.Gln524= Single submitter cryopyrin-associated periodic syndrome
p.Gln600= Single submitter
p.Gln703= Single submitter cryopyrin-associated periodic syndrome
p.Gln764= Single submitter cryopyrin-associated periodic syndrome
p.Glu1021= Single submitter cryopyrin-associated periodic syndrome
p.Glu113= Single submitter cryopyrin-associated periodic syndrome
p.Glu13= Single submitter cryopyrin-associated periodic syndrome
p.Glu150= Single submitter cryopyrin-associated periodic syndrome
p.Glu212= Single submitter cryopyrin-associated periodic syndrome
p.Glu378= Single submitter cryopyrin-associated periodic syndrome
p.Glu483= Single submitter cryopyrin-associated periodic syndrome
p.Glu539= Single submitter cryopyrin-associated periodic syndrome
p.Glu561= Single submitter cryopyrin-associated periodic syndrome
p.Glu638= Single submitter cryopyrin-associated periodic syndrome
p.Glu692= Single submitter cryopyrin-associated periodic syndrome
p.Glu800= Single submitter cryopyrin-associated periodic syndrome
p.Glu862= Single submitter cryopyrin-associated periodic syndrome
p.Glu89= Single submitter cryopyrin-associated periodic syndrome
p.Gly117= Single submitter cryopyrin-associated periodic syndrome
p.Gly459= Single submitter cryopyrin-associated periodic syndrome
p.Gly466= Single submitter cryopyrin-associated periodic syndrome
p.Gly680= Single submitter cryopyrin-associated periodic syndrome
p.Gly767= Single submitter cryopyrin-associated periodic syndrome
p.Gly779= Single submitter cryopyrin-associated periodic syndrome
p.Gly926= Single submitter
p.Gly983= Single submitter cryopyrin-associated periodic syndrome
p.His213= Single submitter cryopyrin-associated periodic syndrome
p.His258= Single submitter cryopyrin-associated periodic syndrome
p.His358= Single submitter cryopyrin-associated periodic syndrome
p.His490= Single submitter
p.His698= Single submitter cryopyrin-associated periodic syndrome
p.His716= Single submitter cryopyrin-associated periodic syndrome
p.His936= Single submitter cryopyrin-associated periodic syndrome
p.Ile288= Single submitter cryopyrin-associated periodic syndrome
p.Ile409= Single submitter cryopyrin-associated periodic syndrome
p.Leu119= Single submitter cryopyrin-associated periodic syndrome
p.Leu169= Single submitter cryopyrin-associated periodic syndrome
p.Leu206= Single submitter cryopyrin-associated periodic syndrome
p.Leu233= Single submitter cryopyrin-associated periodic syndrome
p.Leu273= Single submitter cryopyrin-associated periodic syndrome
p.Leu296= Single submitter cryopyrin-associated periodic syndrome
p.Leu333= Single submitter cryopyrin-associated periodic syndrome
p.Leu356= Single submitter cryopyrin-associated periodic syndrome
p.Leu359= Single submitter cryopyrin-associated periodic syndrome
p.Leu403= Single submitter
p.Leu464= Single submitter cryopyrin-associated periodic syndrome
p.Leu492= Single submitter cryopyrin-associated periodic syndrome
p.Leu505= Single submitter cryopyrin-associated periodic syndrome
p.Leu52= Single submitter cryopyrin-associated periodic syndrome
p.Leu551= Single submitter cryopyrin-associated periodic syndrome
p.Leu571= Single submitter cryopyrin-associated periodic syndrome
p.Leu581= Single submitter cryopyrin-associated periodic syndrome
p.Leu628= Single submitter cryopyrin-associated periodic syndrome
p.Leu632= Single submitter cryopyrin-associated periodic syndrome
p.Leu655= Single submitter cryopyrin-associated periodic syndrome
p.Leu682= Single submitter cryopyrin-associated periodic syndrome
p.Leu741= Single submitter cryopyrin-associated periodic syndrome
p.Leu744= Single submitter cryopyrin-associated periodic syndrome
p.Leu773= Single submitter cryopyrin-associated periodic syndrome
p.Leu792= Single submitter cryopyrin-associated periodic syndrome
p.Leu801= Single submitter cryopyrin-associated periodic syndrome
p.Leu823= Single submitter
p.Leu832= Single submitter cryopyrin-associated periodic syndrome
p.Leu849= Single submitter cryopyrin-associated periodic syndrome
p.Leu855= Single submitter cryopyrin-associated periodic syndrome
p.Leu873= Single submitter cryopyrin-associated periodic syndrome
p.Leu906= Single submitter cryopyrin-associated periodic syndrome
p.Leu922= Single submitter cryopyrin-associated periodic syndrome
p.Leu962= Single submitter cryopyrin-associated periodic syndrome
p.Leu963= Single submitter cryopyrin-associated periodic syndrome
p.Leu982= Single submitter cryopyrin-associated periodic syndrome
p.Lys190= Single submitter
p.Lys34= Single submitter cryopyrin-associated periodic syndrome
p.Lys355= Single submitter cryopyrin-associated periodic syndrome
p.Lys382= Single submitter cryopyrin-associated periodic syndrome
p.Lys508= Single submitter cryopyrin-associated periodic syndrome
p.Lys829= Single submitter
p.Phe255= Single submitter cryopyrin-associated periodic syndrome
p.Phe394= Single submitter cryopyrin-associated periodic syndrome
p.Phe566= Single submitter cryopyrin-associated periodic syndrome
p.Phe59= Single submitter cryopyrin-associated periodic syndrome
p.Phe629= Single submitter cryopyrin-associated periodic syndrome
p.Phe732= Single submitter cryopyrin-associated periodic syndrome
p.Pro197= Single submitter cryopyrin-associated periodic syndrome
p.Pro279= Single submitter cryopyrin-associated periodic syndrome
p.Pro281= Single submitter
p.Pro292= Single submitter cryopyrin-associated periodic syndrome
p.Pro315= Single submitter cryopyrin-associated periodic syndrome
p.Pro315Ser Single submitter cryopyrin-associated periodic syndrome
p.Pro38= Single submitter cryopyrin-associated periodic syndrome
p.Pro38Ser Single submitter cryopyrin-associated periodic syndrome ⚠
p.Pro40= Single submitter cryopyrin-associated periodic syndrome
p.Pro451= Single submitter
p.Pro649= Single submitter cryopyrin-associated periodic syndrome
p.Pro707= Single submitter cryopyrin-associated periodic syndrome
p.Pro90= Single submitter cryopyrin-associated periodic syndrome
p.Pro937= Single submitter cryopyrin-associated periodic syndrome
p.Ser144= Single submitter cryopyrin-associated periodic syndrome
p.Ser196= Single submitter cryopyrin-associated periodic syndrome
p.Ser429= Single submitter cryopyrin-associated periodic syndrome
p.Ser455= Single submitter cryopyrin-associated periodic syndrome
p.Ser485= Single submitter cryopyrin-associated periodic syndrome
p.Ser588= Single submitter cryopyrin-associated periodic syndrome
p.Ser678= Single submitter cryopyrin-associated periodic syndrome
p.Ser733= Single submitter cryopyrin-associated periodic syndrome
p.Ser900= Single submitter cryopyrin-associated periodic syndrome
p.Ser904= Single submitter cryopyrin-associated periodic syndrome
p.Ser94= Single submitter cryopyrin-associated periodic syndrome
p.Ser965= Single submitter cryopyrin-associated periodic syndrome
p.Thr167= Single submitter cryopyrin-associated periodic syndrome
p.Thr191= Single submitter cryopyrin-associated periodic syndrome
p.Thr193= Single submitter cryopyrin-associated periodic syndrome
p.Thr219= Single submitter cryopyrin-associated periodic syndrome
p.Thr522= Single submitter cryopyrin-associated periodic syndrome
p.Thr54= Single submitter cryopyrin-associated periodic syndrome
p.Thr542= Single submitter cryopyrin-associated periodic syndrome
p.Thr762= Single submitter cryopyrin-associated periodic syndrome
p.Thr908= Single submitter cryopyrin-associated periodic syndrome
p.Tyr247= Single submitter cryopyrin-associated periodic syndrome
p.Tyr531= Single submitter cryopyrin-associated periodic syndrome
p.Val1028= Single submitter cryopyrin-associated periodic syndrome
p.Val510= Single submitter cryopyrin-associated periodic syndrome
p.Val558= Single submitter cryopyrin-associated periodic syndrome
p.Val705= Single submitter cryopyrin-associated periodic syndrome
p.Val833= Single submitter
p.Val860= Single submitter cryopyrin-associated periodic syndrome
p.Val905= Single submitter cryopyrin-associated periodic syndrome
p.Val990= Single submitter cryopyrin-associated periodic syndrome
c.2322-5T>C No assertion criteria NLRP3-related disorder

Uncertain significance 612

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

c.2150+4A>G Multiple submitters keratitis fugax hereditaria
c.2492+3G>A Multiple submitters cryopyrin-associated periodic syndrome
c.2663+1G>C Multiple submitters cryopyrin-associated periodic syndrome
c.2664-1G>A Multiple submitters CINCA syndrome
c.397+6C>T Multiple submitters CINCA syndrome
c.-203G>A Multiple submitters Muckle-Wells syndrome
p.Ala225Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala242Lys Multiple submitters NLRP3-related disorder
p.Ala323Val Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ala462Thr Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ala495Val Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ala846Pro Multiple submitters Muckle-Wells syndrome ⚠
p.Ala901Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg155Cys Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Arg168Gln Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Arg168Ter Multiple submitters cryopyrin-associated periodic syndrome
p.Arg170Cys Multiple submitters autoinflammatory syndrome ⚠
p.Arg176Trp Multiple submitters CINCA syndrome ⚠
p.Arg294Gly Multiple submitters Muckle-Wells syndrome ⚠
p.Arg294Lys Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Arg364Trp Multiple submitters Muckle-Wells syndrome ⚠
p.Arg488Trp Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Arg548Cys Multiple submitters autoinflammatory syndrome ⚠
p.Arg548His Multiple submitters Inborn genetic diseases ⚠
p.Arg5Cys Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Arg5His Multiple submitters Inborn genetic diseases ⚠
p.Arg673Gln Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Arg673Trp Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Arg697Gln Multiple submitters hearing loss, autosomal dominant 34, with or without inflammation ⚠
p.Arg697Ter Multiple submitters cryopyrin-associated periodic syndrome
p.Arg729Trp Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Arg757Thr Multiple submitters CINCA syndrome ⚠
p.Arg777His Multiple submitters CINCA syndrome ⚠
p.Arg777Ser Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Arg918Ter Multiple submitters NLRP3-related disorder
p.Arg970Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg970Ter Multiple submitters familial cold autoinflammatory syndrome 1
p.Arg98Cys Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Arg98Gly Multiple submitters Muckle-Wells syndrome ⚠
p.Asn163Ser Multiple submitters CINCA syndrome ⚠
p.Asn489His Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Asn976His Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Asp280Asn Multiple submitters Muckle-Wells syndrome ⚠
p.Asp29Val Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Asp361Asn Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Asp386Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp486Asn Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Asp58Asn Multiple submitters autoinflammatory syndrome ⚠
p.Asp646Tyr Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Asp748Glu Multiple submitters CINCA syndrome ⚠
p.Asp753Asn Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Asp844Tyr Multiple submitters Muckle-Wells syndrome ⚠
p.Asp938Asn Multiple submitters autoinflammatory syndrome ⚠
p.Cys461Tyr Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Cys512Tyr Multiple submitters familial cold autoinflammatory syndrome 1 ⚠
p.Cys671Ser Multiple submitters Muckle-Wells syndrome ⚠
p.Cys714Ser Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Cys841Gly Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Cys996Ser Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Gln178fs Multiple submitters cryopyrin-associated periodic syndrome
p.Gln178Leu Multiple submitters Muckle-Wells syndrome ⚠
p.Gln248Arg Multiple submitters CINCA syndrome ⚠
p.Gln493Arg Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Gln507Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln796Arg Multiple submitters Muckle-Wells syndrome ⚠
p.Glu1005Ter Multiple submitters cryopyrin-associated periodic syndrome
p.Glu1031Gln Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Glu341Lys Multiple submitters autoinflammatory syndrome ⚠
p.Glu605Val Multiple submitters Muckle-Wells syndrome ⚠
p.Glu638Lys Multiple submitters NLRP3-related disorder ⚠
p.Glu690Lys Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Gly117Asp Multiple submitters Muckle-Wells syndrome ⚠
p.Gly189= Multiple submitters Muckle-Wells syndrome
p.Gly189Ser Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Gly301Cys Multiple submitters Muckle-Wells syndrome ⚠
p.Gly326Val Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Gly696Val Multiple submitters ⚠
p.Gly767Ser Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Gly779Asp Multiple submitters Muckle-Wells syndrome ⚠
p.Gly812Ala Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Gly919Asp Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.His175Tyr Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.His26Leu Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.His365Tyr Multiple submitters Inborn genetic diseases ⚠
p.His458Gln Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.His683Tyr Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.His954Tyr Multiple submitters Muckle-Wells syndrome ⚠
p.Ile127Val Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ile149Thr Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ile368Leu Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ile57Met Multiple submitters Inborn genetic diseases ⚠
p.Ile57Val Multiple submitters CINCA syndrome ⚠
p.Ile610Thr Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Leu239Met Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Leu239Phe Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Leu273Val Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Leu329Val Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Leu396Val Multiple submitters Inborn genetic diseases ⚠
p.Leu445fs Multiple submitters cryopyrin-associated periodic syndrome
p.Leu445Phe Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Leu52Val Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Leu604Gln Multiple submitters Inborn genetic diseases ⚠
p.Leu798Met Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Leu889Phe Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Leu894Phe Multiple submitters keratitis fugax hereditaria ⚠
p.Leu982Val Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Lys1013Glu Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Lys1023Gln Multiple submitters Muckle-Wells syndrome ⚠
p.Lys129Arg Multiple submitters Muckle-Wells syndrome ⚠
p.Lys137Asn Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Lys479Asn Multiple submitters Muckle-Wells syndrome ⚠
p.Lys592Arg Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Lys613Asn Multiple submitters Muckle-Wells syndrome ⚠
p.Lys928Asn Multiple submitters Muckle-Wells syndrome ⚠
p.Lys971Thr Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Phe207Ser Multiple submitters Muckle-Wells syndrome ⚠
p.Phe640Val Multiple submitters keratitis fugax hereditaria ⚠
p.Phe648Leu Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Pro1032His Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Pro1032Thr Multiple submitters hearing loss, autosomal dominant 34, with or without inflammation ⚠
p.Pro281Ala Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Pro545Ala Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Pro552Ala Multiple submitters Muckle-Wells syndrome ⚠
p.Pro649Leu Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Pro880Ser Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ser110Asn Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ser144Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser243Leu Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ser385Ala Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ser385Pro Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ser426Gly Multiple submitters Muckle-Wells syndrome ⚠
p.Ser726Thr Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ser740Asn Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ser781Leu Multiple submitters CINCA syndrome ⚠
p.Ser793Gly Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ser904Leu Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Ser965Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser968Gly Multiple submitters autoinflammatory syndrome ⚠
p.Thr1027Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr438Ser Multiple submitters Muckle-Wells syndrome ⚠
p.Thr557Ala Multiple submitters NLRP3-related disorder ⚠
p.Thr657Asn Multiple submitters CINCA syndrome ⚠
p.Thr762Met Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Thr851Ala Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Thr895Met Multiple submitters Muckle-Wells syndrome ⚠
p.Tyr1010Ser Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Val142Met Multiple submitters familial cold autoinflammatory syndrome 1 ⚠
p.Val289Met Multiple submitters autoinflammatory syndrome ⚠
p.Val416Met Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Val556Met Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Val582Glu Multiple submitters keratitis fugax hereditaria ⚠
p.Val641Met Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Val943Leu Multiple submitters cryopyrin-associated periodic syndrome ⚠
p.Val984Asp Multiple submitters familial cold autoinflammatory syndrome 1 ⚠
c.2150+1del Single submitter Inborn genetic diseases
c.2150+6_2150+7delinsTT Single submitter cryopyrin-associated periodic syndrome
c.2151-225C>A Single submitter lung adenocarcinoma
c.2151-6T>A Single submitter cryopyrin-associated periodic syndrome
c.2321+1G>A Single submitter Muckle-Wells syndrome
c.2322-8G>T Single submitter Muckle-Wells syndrome
c.2493-1G>T Single submitter cryopyrin-associated periodic syndrome
c.2493-2A>G Single submitter cryopyrin-associated periodic syndrome
c.2493-3A>C Single submitter cryopyrin-associated periodic syndrome
c.2493-6T>C Single submitter Muckle-Wells syndrome
c.2664-3C>T Single submitter cryopyrin-associated periodic syndrome
c.2834+1G>A Single submitter Muckle-Wells syndrome
c.2835-14C>A Single submitter lung adenocarcinoma
c.3005+4A>G Single submitter Muckle-Wells syndrome
c.3006-1G>C Single submitter cryopyrin-associated periodic syndrome
c.3006-2A>G Single submitter
c.397+16_397+29del Single submitter cryopyrin-associated periodic syndrome
c.397+5G>A Single submitter cryopyrin-associated periodic syndrome
c.397+5G>T Single submitter cryopyrin-associated periodic syndrome
c.398-11C>T Single submitter Muckle-Wells syndrome
c.398-24C>G Single submitter squamous cell carcinoma
c.398-5C>G Single submitter Muckle-Wells syndrome
c.-121T>C Single submitter lung adenocarcinoma
c.-146T>C Single submitter lung adenocarcinoma
c.-219G>A Single submitter CINCA syndrome
c.-339C>T Single submitter Muckle-Wells syndrome
c.-369G>A Single submitter Muckle-Wells syndrome
c.-407C>T Single submitter familial cold autoinflammatory syndrome 1
c.-460G>A Single submitter familial cold autoinflammatory syndrome 1
c.-523G>A Single submitter Muckle-Wells syndrome
c.-533C>G Single submitter Muckle-Wells syndrome
c.-629C>T Single submitter Muckle-Wells syndrome
c.-685G>A Single submitter familial cold autoinflammatory syndrome 1
c.-686C>T Single submitter familial cold autoinflammatory syndrome 1
c.-68C>T Single submitter Muckle-Wells syndrome
c.-710C>T Single submitter familial cold autoinflammatory syndrome 1
c.-72G>A Single submitter
c.-748-307A>G Single submitter lung adenocarcinoma
c.-74G>A Single submitter Muckle-Wells syndrome
c.*139T>G Single submitter Muckle-Wells syndrome
c.*2A>G Single submitter Muckle-Wells syndrome
c.*378A>C Single submitter familial cold autoinflammatory syndrome 1
c.*431G>A Single submitter familial cold autoinflammatory syndrome 1
c.*604A>C Single submitter CINCA syndrome
p.Ala1015Val Single submitter autoinflammatory syndrome ⚠
p.Ala226Thr Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala234Thr Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala242Glu Single submitter Inborn genetic diseases ⚠
p.Ala242Thr Single submitter Inborn genetic diseases ⚠
p.Ala242Val Single submitter ⚠
p.Ala352Ser Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala388Val Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala392Glu Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala393Gly Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala472Glu Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala47Ser Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala529Thr Single submitter Inborn genetic diseases ⚠
p.Ala53Val Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala614Thr Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala807Asp Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala840Glu Single submitter ⚠
p.Ala864Val Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala871Ser Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala901Asp Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala901Val Single submitter cryopyrin-associated periodic syndrome ⚠
p.Ala97Glu Single submitter Inborn genetic diseases ⚠
p.Ala97Thr Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg135Gly Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg135Pro Single submitter Muckle-Wells syndrome ⚠
p.Arg165His Single submitter Muckle-Wells syndrome ⚠
p.Arg170His Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg250Thr Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg260Gln Single submitter cryopyrin-associated periodic syndrome
p.Arg260Leu Single submitter cryopyrin-associated periodic syndrome
p.Arg325Gly Single submitter Muckle-Wells syndrome ⚠
p.Arg335Gly Single submitter ⚠
p.Arg335Lys Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg364Gln Single submitter Muckle-Wells syndrome ⚠
p.Arg376Gly Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg452Gln Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg452Trp Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg502Gly Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg502Lys Single submitter ⚠
p.Arg541Ser Single submitter ⚠
p.Arg554Gln Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg757Lys Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg771= Single submitter cryopyrin-associated periodic syndrome
p.Arg771Gln Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg771Trp Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg78= Single submitter CINCA syndrome
p.Arg78Ser Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg857Lys Single submitter cryopyrin-associated periodic syndrome ⚠
p.Arg87Lys Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asn1000_Leu1001insArgLeuLeuGlnAsn Single submitter cryopyrin-associated periodic syndrome
p.Asn101Lys Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asn101Ser Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asn163Lys Single submitter Inborn genetic diseases ⚠
p.Asn400Lys Single submitter Muckle-Wells syndrome ⚠
p.Asn477Asp Single submitter ⚠
p.Asn489Lys Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asn543Asp Single submitter ⚠
p.Asn60Ser Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asn654Asp Single submitter ⚠
p.Asn654Ser Single submitter ⚠
p.Asn684Asp Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asn684Lys Single submitter Muckle-Wells syndrome ⚠
p.Asn720Thr Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asn769Ser Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asn826His Single submitter ⚠
p.Asn879Asp Single submitter ⚠
p.Asn909Asp Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp109Gly Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp208Gly Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp210Glu Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp211Gly Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp249His Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp272fs Single submitter Muckle-Wells syndrome
p.Asp300His Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp496Asn Single submitter lung adenocarcinoma ⚠
p.Asp496Val Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp51Asn Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp639Tyr Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp753Val Single submitter Muckle-Wells syndrome ⚠
p.Asp802Gly Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp802Tyr Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp810Asn Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp924Glu Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp947Glu Single submitter cryopyrin-associated periodic syndrome ⚠
p.Asp978Asn Single submitter cryopyrin-associated periodic syndrome ⚠
p.Cys148Gly Single submitter cryopyrin-associated periodic syndrome ⚠
p.Cys317Gly Single submitter Muckle-Wells syndrome ⚠
p.Cys413Gly Single submitter Muckle-Wells syndrome ⚠
p.Cys413Ser Single submitter cryopyrin-associated periodic syndrome ⚠
p.Cys468Arg Single submitter cryopyrin-associated periodic syndrome ⚠
p.Cys714Arg Single submitter cryopyrin-associated periodic syndrome ⚠
p.Cys760Arg Single submitter ⚠
p.Cys785Arg Single submitter lung adenocarcinoma ⚠
p.Cys825Phe Single submitter ⚠
p.Cys842Phe Single submitter cryopyrin-associated periodic syndrome ⚠
p.Cys874Ser Single submitter cryopyrin-associated periodic syndrome ⚠
p.Cys988Ser Single submitter ⚠
p.Gln1020Lys Single submitter cryopyrin-associated periodic syndrome ⚠
p.Gln398Arg Single submitter cryopyrin-associated periodic syndrome ⚠
p.Gln43Ter Single submitter Muckle-Wells syndrome
p.Gln600Ter Single submitter
p.Gln601Glu Single submitter Inborn genetic diseases ⚠