Sugi Variant

Sugi Variant/NLRP12

NLRP12 — 1407 ClinVar variants

All ClinVar germline NLRP12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 743 flagged for review →

2 Pathogenic · 3 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 109 Conflicting · 48 Benign · 38 Benign/Likely benign · 313 Likely benign · 889 Uncertain significance

Full NLRP12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 743

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 agree, ClinVar conflicts 53

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

Predictors lean, ClinVar uncertain 563

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 563

Predictors split 127

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

All NLRP12 variants

Pathogenic 2

  • c.2574_2585+13del Single submitter familial cold autoinflammatory syndrome 2
  • p.Glu931Ter Single submitter familial cold autoinflammatory syndrome 2

Pathogenic/Likely pathogenic 3

  • c.2072+1G>C Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Asp294Glu Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Lys371fs Multiple submitters familial cold autoinflammatory syndrome 2

Likely pathogenic 5

Conflicting classifications of pathogenicity 109

  • c.2072+2_2072+3insTT Single submitter autoinflammatory syndrome
  • c.2072+2dup Single submitter autoinflammatory syndrome
  • c.2243+6T>C Single submitter familial cold autoinflammatory syndrome 2
  • c.2244-14C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2414+17G>A Single submitter familial cold autoinflammatory syndrome 2
  • c.2757-1G>T Single submitter autoinflammatory syndrome
  • c.289+13C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2927+4_2927+5dup Single submitter autoinflammatory syndrome
  • c.-143C>A Single submitter familial cold autoinflammatory syndrome 2
  • c.-226A>G Single submitter familial cold autoinflammatory syndrome 2
  • c.-2C>G Single submitter autoinflammatory syndrome
  • p.Ala1049Val Single submitter autoinflammatory syndrome ⚠
  • p.Ala218= Single submitter autoinflammatory syndrome
  • p.Ala384= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala5Glu Single submitter autoinflammatory syndrome ⚠
  • p.Ala682= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala682Thr Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala707Val Single submitter Inborn genetic diseases ⚠
  • p.Arg1016Ter Single submitter autoinflammatory syndrome
  • p.Arg1030Gln Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg1030Gly Single submitter autoinflammatory syndrome ⚠
  • p.Arg1051Pro Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg146Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg181Trp Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg206Cys Single submitter autoinflammatory syndrome ⚠
  • p.Arg206His Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg284Ter Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg329Gln Single submitter autoinflammatory syndrome ⚠
  • p.Arg352Cys Single submitter autoinflammatory syndrome ⚠
  • p.Arg370Lys Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg722Gln Single submitter autoinflammatory syndrome ⚠
  • p.Arg728Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg728Trp Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg738= Single submitter autoinflammatory syndrome
  • p.Arg748= Single submitter Inborn genetic diseases
  • p.Arg751= Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg753His Single submitter autoinflammatory syndrome ⚠
  • p.Arg795Gln Single submitter autoinflammatory syndrome ⚠
  • p.Arg79Gln Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg79Trp Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg7Gly Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg859Trp Single submitter autoinflammatory syndrome ⚠
  • p.Arg887fs Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg919Gln Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg944= Single submitter autoinflammatory syndrome
  • p.Arg944Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg944Trp Single submitter autoinflammatory syndrome ⚠
  • p.Asn251Ser Single submitter autoinflammatory syndrome ⚠
  • p.Asn741Ser Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Asp833Glu Single submitter autoinflammatory syndrome ⚠
  • p.Asp874= Single submitter autoinflammatory syndrome
  • p.Asp898Tyr Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Cys987Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln607Pro Single submitter Inborn genetic diseases ⚠
  • p.Gln661Pro Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Gln884His Single submitter Inborn genetic diseases ⚠
  • p.Glu287= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Glu355Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu931Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu963Lys Single submitter autoinflammatory syndrome ⚠
  • p.Gly1014= Single submitter autoinflammatory syndrome
  • p.Gly180Ser Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Gly448Ala Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Gly468Val Single submitter Inborn genetic diseases ⚠
  • p.Gly683Arg Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Gly736Arg Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Gly779= Single submitter autoinflammatory syndrome
  • p.Gly921Arg Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.His304Tyr Single submitter autoinflammatory syndrome ⚠
  • p.His685Gln Single submitter Inborn genetic diseases ⚠
  • p.His796fs Single submitter familial cold autoinflammatory syndrome 2
  • p.Ile636= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ile922= Single submitter autoinflammatory syndrome
  • p.Leu1000Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu354Val Single submitter autoinflammatory syndrome ⚠
  • p.Leu423fs Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu687fs Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu829= Single submitter autoinflammatory syndrome
  • p.Leu858= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu918= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu960Ter Single submitter familial cold autoinflammatory syndrome 2
  • p.Lys26= Single submitter autoinflammatory syndrome
  • p.Lys770Thr Single submitter Inborn genetic diseases ⚠
  • p.Met787fs Single submitter familial cold autoinflammatory syndrome 2
  • p.Phe303fs Single submitter familial cold autoinflammatory syndrome 2
  • p.Pro100Ser Single submitter autoinflammatory syndrome ⚠
  • p.Pro103Leu Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Pro210Leu Single submitter autoinflammatory syndrome ⚠
  • p.Pro286= Single submitter familial cold autoinflammatory syndrome 2
  • p.Pro286Leu Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Pro450Leu Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ser192fs Single submitter familial cold autoinflammatory syndrome 2
  • p.Ser584= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ser597Asn Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ser651Ter Single submitter NLRP12-related disorder
  • p.Thr1043Ile Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Thr179Ile Single submitter autoinflammatory syndrome ⚠
  • p.Thr260Met Single submitter autoinflammatory syndrome ⚠
  • p.Thr320Met Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Thr341Ile Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Thr427= Single submitter autoinflammatory syndrome
  • p.Thr860Ser Single submitter autoinflammatory syndrome ⚠
  • p.Thr879Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr912= Single submitter autoinflammatory syndrome
  • p.Tyr132Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr16fs Single submitter NLRP12-related disorder
  • p.Tyr618Ter Single submitter NLRP12-related disorder
  • p.Val187Met Single submitter Inborn genetic diseases ⚠
  • p.Val730fs Single submitter familial cold autoinflammatory syndrome 2

Benign 48

Benign/Likely benign 38

  • c.2757-8C>G Multiple submitters familial cold autoinflammatory syndrome 2
  • c.289+18C>T Multiple submitters familial cold autoinflammatory syndrome 2
  • c.2927+11G>A Multiple submitters familial cold autoinflammatory syndrome 2
  • c.2927+13del Multiple submitters familial cold autoinflammatory syndrome 2
  • c.2927+14A>G Multiple submitters familial cold autoinflammatory syndrome 2
  • c.-12C>T Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ala184= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ala433= Multiple submitters autoinflammatory syndrome
  • p.Ala449= Multiple submitters autoinflammatory syndrome
  • p.Ala929Thr Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Arg451His Multiple submitters autoinflammatory syndrome
  • p.Arg859Gln Multiple submitters autoinflammatory syndrome
  • p.Arg867His Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Arg919Trp Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg944fs Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Asn1008= Multiple submitters autoinflammatory syndrome
  • p.Asn714Ser Multiple submitters autoinflammatory syndrome
  • p.Asn951= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Asp1002Asn Multiple submitters autoinflammatory syndrome
  • p.Asp142Asn Multiple submitters autoinflammatory syndrome ⚠
  • p.Asp97= Multiple submitters autoinflammatory syndrome
  • p.Gln479= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Gln798= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Gly39Val Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Gly533= Multiple submitters autoinflammatory syndrome
  • p.His379= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Leu323= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Leu439Gln Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Leu823= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Leu94= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Lys577= Multiple submitters autoinflammatory syndrome
  • p.Lys743Gln Multiple submitters autoinflammatory syndrome
  • p.Phe402Leu Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Pro273= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Pro319Arg Multiple submitters autoinflammatory syndrome ⚠
  • p.Thr320= Multiple submitters autoinflammatory syndrome
  • p.Tyr390= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Val901Leu Multiple submitters autoinflammatory syndrome

Likely benign 313

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

  • c.2243+11G>T Multiple submitters familial cold autoinflammatory syndrome 2
  • c.2756+9C>T Multiple submitters familial cold autoinflammatory syndrome 2
  • c.289+14G>A Multiple submitters familial cold autoinflammatory syndrome 2
  • c.2927+10G>A Multiple submitters familial cold autoinflammatory syndrome 2
  • c.2927+9C>T Multiple submitters familial cold autoinflammatory syndrome 2
  • c.3098+18G>C Multiple submitters familial cold autoinflammatory syndrome 2
  • c.3099-19_3099-17del Multiple submitters familial cold autoinflammatory syndrome 2
  • c.3099-20A>G Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ala1049= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ala22= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ala235= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ala277= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ala678= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ala707= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ala838= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Arg318Gly Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Arg343= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Asn144= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Asn568= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Asn780= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Asp294= Multiple submitters autoinflammatory syndrome
  • p.Asp487= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Asp8= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Gln608= Multiple submitters
  • p.Gln916= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Gly102= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Gly222= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Gly295= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Gly468= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ile268= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ile499Val Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Leu1005= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Leu139= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Leu439= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Leu461= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Leu863= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Leu893= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Leu899= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Leu965= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Phe137= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Phe64= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Pro103= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ser554= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ser610= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ser651= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ser681= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Thr198= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Thr34= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Thr345= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Tyr618= Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Val410= Multiple submitters familial cold autoinflammatory syndrome 2
  • c.2072+12T>G Single submitter familial cold autoinflammatory syndrome 2
  • c.2072+16G>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2072+17_2072+28del Single submitter familial cold autoinflammatory syndrome 2
  • c.2072+19T>C Single submitter familial cold autoinflammatory syndrome 2
  • c.2072+20C>G Single submitter familial cold autoinflammatory syndrome 2
  • c.2072+20C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2073-12T>C Single submitter familial cold autoinflammatory syndrome 2
  • c.2073-3C>A Single submitter familial cold autoinflammatory syndrome 2
  • c.2073-7C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2243+15G>C Single submitter familial cold autoinflammatory syndrome 2
  • c.2243+17C>A Single submitter familial cold autoinflammatory syndrome 2
  • c.2243+7G>A Single submitter familial cold autoinflammatory syndrome 2
  • c.2244-4C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2244-6C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2244-8C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2414+13C>A Single submitter familial cold autoinflammatory syndrome 2
  • c.2414+17G>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2415-18C>G Single submitter familial cold autoinflammatory syndrome 2
  • c.2415-6C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2585+11C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2585+13T>C Single submitter familial cold autoinflammatory syndrome 2
  • c.2585+17G>A Single submitter familial cold autoinflammatory syndrome 2
  • c.2585+18T>C Single submitter familial cold autoinflammatory syndrome 2
  • c.2586-10C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2586-14T>A Single submitter familial cold autoinflammatory syndrome 2
  • c.2586-15T>C Single submitter
  • c.2586-7T>C Single submitter familial cold autoinflammatory syndrome 2
  • c.2756+10G>A Single submitter familial cold autoinflammatory syndrome 2
  • c.2756+16C>A Single submitter familial cold autoinflammatory syndrome 2
  • c.2756+20C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2756+7C>A Single submitter familial cold autoinflammatory syndrome 2
  • c.2757-12C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2757-13C>A Single submitter familial cold autoinflammatory syndrome 2
  • c.2757-13C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2757-15A>G Single submitter familial cold autoinflammatory syndrome 2
  • c.289+12G>T Single submitter familial cold autoinflammatory syndrome 2
  • c.289+17A>G Single submitter familial cold autoinflammatory syndrome 2
  • c.289+17A>T Single submitter familial cold autoinflammatory syndrome 2
  • c.289+18C>G Single submitter familial cold autoinflammatory syndrome 2
  • c.289+8G>C Single submitter
  • c.290-11T>C Single submitter familial cold autoinflammatory syndrome 2
  • c.290-17C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.290-8T>C Single submitter familial cold autoinflammatory syndrome 2
  • c.2927+12G>A Single submitter familial cold autoinflammatory syndrome 2
  • c.2927+19C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2927+20G>A Single submitter familial cold autoinflammatory syndrome 2
  • c.2928-14del Single submitter familial cold autoinflammatory syndrome 2
  • c.2928-19_2928-14dup Single submitter familial cold autoinflammatory syndrome 2
  • c.2928-6C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2928-8T>G Single submitter familial cold autoinflammatory syndrome 2
  • c.2928-9C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.3098+10G>A Single submitter familial cold autoinflammatory syndrome 2
  • c.3098+10G>C Single submitter familial cold autoinflammatory syndrome 2
  • c.3098+18G>T Single submitter familial cold autoinflammatory syndrome 2
  • c.3099-14T>C Single submitter familial cold autoinflammatory syndrome 2
  • c.3099-16A>G Single submitter familial cold autoinflammatory syndrome 2
  • c.3099-19T>G Single submitter familial cold autoinflammatory syndrome 2
  • c.3099-22_3099-20del Single submitter familial cold autoinflammatory syndrome 2
  • c.370+12G>A Single submitter familial cold autoinflammatory syndrome 2
  • c.370+13C>G Single submitter familial cold autoinflammatory syndrome 2
  • c.370+14C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.370+16T>C Single submitter familial cold autoinflammatory syndrome 2
  • c.370+4A>G Single submitter familial cold autoinflammatory syndrome 2
  • c.370+7C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.371-12C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.371-7C>A Single submitter familial cold autoinflammatory syndrome 2
  • c.371-9C>T Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala259= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala35= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala465= Single submitter
  • p.Ala51= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala549= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala629= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala642= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala660= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala672= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala684= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala724= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala758= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala877= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala984= Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg1030= Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg138Trp Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg146Gly Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg156= Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg181= Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg211= Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg329= Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg370= Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg508= Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg7= Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg728= Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg795= Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg845= Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg857= Single submitter familial cold autoinflammatory syndrome 2
  • p.Asn152= Single submitter familial cold autoinflammatory syndrome 2
  • p.Asn251= Single submitter familial cold autoinflammatory syndrome 2
  • p.Asn325= Single submitter
  • p.Asn741= Single submitter familial cold autoinflammatory syndrome 2
  • p.Asn769= Single submitter familial cold autoinflammatory syndrome 2
  • p.Asn771= Single submitter familial cold autoinflammatory syndrome 2
  • p.Asn837= Single submitter
  • p.Asn997= Single submitter
  • p.Asp131= Single submitter familial cold autoinflammatory syndrome 2
  • p.Asp236= Single submitter familial cold autoinflammatory syndrome 2
  • p.Asp393= Single submitter familial cold autoinflammatory syndrome 2
  • p.Asp480= Single submitter familial cold autoinflammatory syndrome 2
  • p.Asp540= Single submitter familial cold autoinflammatory syndrome 2
  • p.Asp699= Single submitter familial cold autoinflammatory syndrome 2
  • p.Asp898= Single submitter familial cold autoinflammatory syndrome 2
  • p.Asp947= Single submitter familial cold autoinflammatory syndrome 2
  • p.Cys1027= Single submitter familial cold autoinflammatory syndrome 2
  • p.Cys462= Single submitter familial cold autoinflammatory syndrome 2
  • p.Cys742= Single submitter familial cold autoinflammatory syndrome 2
  • p.Cys752= Single submitter familial cold autoinflammatory syndrome 2
  • p.Cys759= Single submitter familial cold autoinflammatory syndrome 2
  • p.Cys799= Single submitter familial cold autoinflammatory syndrome 2
  • p.Cys848= Single submitter familial cold autoinflammatory syndrome 2
  • p.Cys856= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gln171Arg Single submitter Inborn genetic diseases
  • p.Gln501= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gln593= Single submitter familial cold autoinflammatory syndrome 2
  • p.Glu24= Single submitter familial cold autoinflammatory syndrome 2
  • p.Glu274= Single submitter familial cold autoinflammatory syndrome 2
  • p.Glu478= Single submitter familial cold autoinflammatory syndrome 2
  • p.Glu530= Single submitter familial cold autoinflammatory syndrome 2
  • p.Glu576= Single submitter familial cold autoinflammatory syndrome 2
  • p.Glu619= Single submitter familial cold autoinflammatory syndrome 2
  • p.Glu68= Single submitter familial cold autoinflammatory syndrome 2
  • p.Glu693= Single submitter familial cold autoinflammatory syndrome 2
  • p.Glu760= Single submitter familial cold autoinflammatory syndrome 2
  • p.Glu945= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly1060= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly107= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly148= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly220= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly308= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly603= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly609= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly667= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly674= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly729= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly729Arg Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly793= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly843= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly89= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly954= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly964= Single submitter familial cold autoinflammatory syndrome 2
  • p.Gly995= Single submitter familial cold autoinflammatory syndrome 2
  • p.His183= Single submitter familial cold autoinflammatory syndrome 2
  • p.His304= Single submitter familial cold autoinflammatory syndrome 2
  • p.His484= Single submitter familial cold autoinflammatory syndrome 2
  • p.His63= Single submitter familial cold autoinflammatory syndrome 2
  • p.His664= Single submitter familial cold autoinflammatory syndrome 2
  • p.His685= Single submitter familial cold autoinflammatory syndrome 2
  • p.His704= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ile250= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ile293= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ile527= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ile595= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ile865= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu1010= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu118= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu13= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu147= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu17= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu199= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu20= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu226= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu247= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu279= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu299= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu32= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu332= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu333= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu336= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu353= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu423= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu464= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu475= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu495= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu528= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu544= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu556= Single submitter
  • p.Leu575= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu579= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu59= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu591= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu60= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu611= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu718= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu720= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu733= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu749= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu789= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu834= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu839= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu844= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu876= Single submitter
  • p.Leu889= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu891= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu908= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu975= Single submitter familial cold autoinflammatory syndrome 2
  • p.Leu982= Single submitter familial cold autoinflammatory syndrome 2
  • p.Lys1020= Single submitter familial cold autoinflammatory syndrome 2
  • p.Lys300= Single submitter familial cold autoinflammatory syndrome 2
  • p.Lys446= Single submitter familial cold autoinflammatory syndrome 2
  • p.Lys582= Single submitter familial cold autoinflammatory syndrome 2
  • p.Lys731= Single submitter
  • p.Lys743= Single submitter familial cold autoinflammatory syndrome 2
  • p.Lys808= Single submitter familial cold autoinflammatory syndrome 2
  • p.Phe402= Single submitter familial cold autoinflammatory syndrome 2
  • p.Phe652= Single submitter
  • p.Pro121= Single submitter familial cold autoinflammatory syndrome 2
  • p.Pro125= Single submitter familial cold autoinflammatory syndrome 2
  • p.Pro207= Single submitter familial cold autoinflammatory syndrome 2
  • p.Pro209= Single submitter
  • p.Pro210= Single submitter familial cold autoinflammatory syndrome 2
  • p.Pro275= Single submitter familial cold autoinflammatory syndrome 2
  • p.Pro319= Single submitter familial cold autoinflammatory syndrome 2
  • p.Pro445= Single submitter familial cold autoinflammatory syndrome 2
  • p.Pro447= Single submitter familial cold autoinflammatory syndrome 2
  • p.Pro450= Single submitter familial cold autoinflammatory syndrome 2
  • p.Pro585= Single submitter
  • p.Pro713= Single submitter familial cold autoinflammatory syndrome 2
  • p.Pro968= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ser276= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ser428= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ser601= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ser671= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ser757= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ser813= Single submitter familial cold autoinflammatory syndrome 2
  • p.Ter1062= Single submitter familial cold autoinflammatory syndrome 2
  • p.Thr1001= Single submitter familial cold autoinflammatory syndrome 2
  • p.Thr1013= Single submitter familial cold autoinflammatory syndrome 2
  • p.Thr212= Single submitter familial cold autoinflammatory syndrome 2
  • p.Thr399= Single submitter
  • p.Thr4= Single submitter familial cold autoinflammatory syndrome 2
  • p.Thr412= Single submitter familial cold autoinflammatory syndrome 2
  • p.Thr542= Single submitter familial cold autoinflammatory syndrome 2
  • p.Thr546= Single submitter familial cold autoinflammatory syndrome 2
  • p.Thr62= Single submitter familial cold autoinflammatory syndrome 2
  • p.Thr669= Single submitter familial cold autoinflammatory syndrome 2
  • p.Thr695= Single submitter familial cold autoinflammatory syndrome 2
  • p.Thr76= Single submitter familial cold autoinflammatory syndrome 2
  • p.Thr999= Single submitter familial cold autoinflammatory syndrome 2
  • p.Tyr1056= Single submitter familial cold autoinflammatory syndrome 2
  • p.Tyr132= Single submitter familial cold autoinflammatory syndrome 2
  • p.Tyr157= Single submitter familial cold autoinflammatory syndrome 2

Uncertain significance 889

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

  • c.2244-1G>A Multiple submitters familial cold autoinflammatory syndrome 2
  • c.2585+2T>C Multiple submitters familial cold autoinflammatory syndrome 2
  • c.2756+3G>A Multiple submitters familial cold autoinflammatory syndrome 2
  • c.290-13A>G Multiple submitters familial cold autoinflammatory syndrome 2
  • c.2928-4C>G Multiple submitters familial cold autoinflammatory syndrome 2
  • c.3078_3098+1del Multiple submitters familial cold autoinflammatory syndrome 2
  • c.3098+4A>G Multiple submitters familial cold autoinflammatory syndrome 2
  • c.-56G>A Multiple submitters familial cold autoinflammatory syndrome 2
  • c.*290A>C Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ala184Thr Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala184Val Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala218Val Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala277Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala277Val Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala346Asp Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala35Glu Multiple submitters autoinflammatory syndrome ⚠
  • p.Ala35Thr Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala35Val Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala368Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala384Val Multiple submitters autoinflammatory syndrome ⚠
  • p.Ala449Gly Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala449Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala465Val Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala523Gly Multiple submitters autoinflammatory syndrome ⚠
  • p.Ala549Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala5Thr Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala629Asp Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala668Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala672Val Multiple submitters autoinflammatory syndrome ⚠
  • p.Ala684Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Ala69Val Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ala700Thr Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala820Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala929fs Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ala969Pro Multiple submitters autoinflammatory syndrome ⚠
  • p.Ala984Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1021Gln Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg1030Ter Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Arg1046Gly Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg1051Gln Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg1051Ter Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Arg12His Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg134Cys Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg211His Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg211Ser Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg243Gly Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg288His Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg318Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg343Gly Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg343Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg343Trp Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Arg3Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg3Ter Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Arg508Lys Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg543Met Multiple submitters Inborn genetic diseases ⚠
  • p.Arg561Cys Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg561Ser Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Arg656Cys Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg722Ter Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Arg753Leu Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg774Lys Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg795Trp Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg867Cys Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg924Gln Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg924Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1007Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn152fs Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Asn152Lys Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Asn251Lys Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Asn457Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn712Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn741Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Asn942Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn951Lys Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Asn989Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Asn997Lys Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Asp1012Val Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Asp1058Glu Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Asp131Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp245fs Multiple submitters autoinflammatory syndrome
  • p.Asp529Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp761Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp952Asn Multiple submitters autoinflammatory syndrome ⚠
  • p.Asp978His Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Cys1061Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Cys150Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Cys791Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Cys873Trp Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Cys980Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln174Glu Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Gln190Pro Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Gln280Ter Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Gln444Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln628His Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Gln998Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu204Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu208Ala Multiple submitters autoinflammatory syndrome ⚠
  • p.Glu208Lys Multiple submitters NLRP12-related disorder ⚠
  • p.Glu287Lys Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Glu315Lys Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Glu321Ala Multiple submitters autoinflammatory syndrome ⚠
  • p.Glu569Lys Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Glu570Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Glu570Asp Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Glu612Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Glu612Lys Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Glu619Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu619Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu760Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu78Lys Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Glu875Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu888Lys Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Gly1014fs Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Gly180Asp Multiple submitters autoinflammatory syndrome ⚠
  • p.Gly220Ala Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Gly222Asp Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Gly222Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly242Asp Multiple submitters autoinflammatory syndrome ⚠
  • p.Gly295fs Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Gly364Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly41Ser Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Gly420Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly488Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly52Asp Multiple submitters autoinflammatory syndrome ⚠
  • p.Gly52Ser Multiple submitters autoinflammatory syndrome ⚠
  • p.Gly603fs Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Gly674Trp Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Gly781Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly814Arg Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Gly824Ser Multiple submitters autoinflammatory syndrome ⚠
  • p.Gly89Arg Multiple submitters autoinflammatory syndrome ⚠
  • p.Gly957Ser Multiple submitters Inborn genetic diseases ⚠
  • p.His351Tyr Multiple submitters autoinflammatory syndrome ⚠
  • p.His379Gln Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.His484Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His664Arg Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.His664Tyr Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.His704Tyr Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ile250Asn Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ile268Val Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ile474Phe Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ile513fs Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ile716Thr Multiple submitters autoinflammatory syndrome ⚠
  • p.Ile922Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1018Phe Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Leu1022Arg Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Leu10Pro Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Leu13Arg Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Leu332Met Multiple submitters Inborn genetic diseases ⚠
  • p.Leu464_Leu469del Multiple submitters autoinflammatory syndrome
  • p.Leu54Val Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Leu558Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu59fs Multiple submitters autoinflammatory syndrome
  • p.Leu611Phe Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Leu611Ser Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Leu691Pro Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Leu709Pro Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Leu732Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu762Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu762Val Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Leu834Met Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Leu858Ile Multiple submitters autoinflammatory syndrome ⚠
  • p.Leu868Phe Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Leu880Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu918Pro Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Leu994Pro Multiple submitters autoinflammatory syndrome ⚠
  • p.Lys1054Glu Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Lys502del Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Lys588fs Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Lys644Arg Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Lys731Glu Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Lys743Arg Multiple submitters NLRP12-related disorder ⚠
  • p.Met1042Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Met1Leu Multiple submitters autoinflammatory syndrome
  • p.Met215Thr Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Met215Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met524Ile Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Met788Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Phe378Leu Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Phe476Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Phe517Ser Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Phe64Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro306Leu Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Pro447Leu Multiple submitters autoinflammatory syndrome ⚠
  • p.Pro456Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro585Leu Multiple submitters autoinflammatory syndrome ⚠
  • p.Pro827fs Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ser104Cys Multiple submitters autoinflammatory syndrome ⚠
  • p.Ser270Ile Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ser516Gly Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Ser631Arg Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ser639Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser651Pro Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Ser671Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser702Gly Multiple submitters autoinflammatory syndrome ⚠
  • p.Ser934Pro Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Thr111Ala Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Thr120Pro Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Thr158Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr198Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr212Pro Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Thr399Ser Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Thr825Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr869_Ala870insThr Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Thr912Met Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Thr917Ile Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Trp272Ter Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Trp594Arg Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Trp70Ter Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Trp976fs Multiple submitters familial cold autoinflammatory syndrome 2
  • p.Tyr373Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr373His Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Tyr375Cys Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Tyr377Cys Multiple submitters Inborn genetic diseases
  • p.Tyr666His Multiple submitters autoinflammatory syndrome ⚠
  • p.Val285Ala Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Val403Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val403Leu Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Val638Ile Multiple submitters familial cold autoinflammatory syndrome 2 ⚠
  • p.Val696Ile Multiple submitters Inborn genetic diseases ⚠
  • c.2072+4_2072+7del Single submitter
  • c.2072+4A>G Single submitter familial cold autoinflammatory syndrome 2
  • c.2072+5G>T Single submitter autoinflammatory syndrome
  • c.2073-10_2073-7del Single submitter familial cold autoinflammatory syndrome 2
  • c.2073-5A>G Single submitter familial cold autoinflammatory syndrome 2
  • c.2244-10del Single submitter autoinflammatory syndrome
  • c.2244-22_2271del Single submitter familial cold autoinflammatory syndrome 2
  • c.2414+5G>A Single submitter autoinflammatory syndrome
  • c.2415-14T>C Single submitter familial cold autoinflammatory syndrome 2
  • c.2415-1G>A Single submitter familial cold autoinflammatory syndrome 2
  • c.2585+1G>C Single submitter familial cold autoinflammatory syndrome 2
  • c.2586-3C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.2756+5G>C Single submitter familial cold autoinflammatory syndrome 2
  • c.2756+6T>C Single submitter familial cold autoinflammatory syndrome 2
  • c.289+6G>A Single submitter familial cold autoinflammatory syndrome 2
  • c.289+6G>C Single submitter familial cold autoinflammatory syndrome 2
  • c.290-16_290-14delinsGAT Single submitter familial cold autoinflammatory syndrome 2
  • c.2928-3C>G Single submitter familial cold autoinflammatory syndrome 2
  • c.3098+2T>C Single submitter
  • c.3098+6G>T Single submitter familial cold autoinflammatory syndrome 2
  • c.3099-12T>C Single submitter familial cold autoinflammatory syndrome 2
  • c.3099-13_3099-10del Single submitter familial cold autoinflammatory syndrome 2
  • c.370+2T>G Single submitter familial cold autoinflammatory syndrome 2
  • c.371-14T>G Single submitter familial cold autoinflammatory syndrome 2
  • c.371-8T>C Single submitter autoinflammatory syndrome
  • c.-18G>A Single submitter
  • c.-68G>A Single submitter familial cold autoinflammatory syndrome 2
  • c.*108T>C Single submitter familial cold autoinflammatory syndrome 2
  • c.*126G>C Single submitter familial cold autoinflammatory syndrome 2
  • c.*161A>C Single submitter familial cold autoinflammatory syndrome 2
  • c.*343A>G Single submitter familial cold autoinflammatory syndrome 2
  • c.*385T>G Single submitter familial cold autoinflammatory syndrome 2
  • c.*395C>T Single submitter familial cold autoinflammatory syndrome 2
  • c.*402G>A Single submitter familial cold autoinflammatory syndrome 2
  • c.*423G>T Single submitter familial cold autoinflammatory syndrome 2
  • c.*430G>A Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala1009_Leu1010insTer Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala1009Ser Single submitter autoinflammatory syndrome ⚠
  • p.Ala1009Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala145Val Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala184Gly Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala218fs Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala218Pro Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala218Thr Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala219fs Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala219Glu Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala235Val Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala35Ser Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala384Gly Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala384Ser Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala384Thr Single submitter ⚠
  • p.Ala433Val Single submitter Inborn genetic diseases ⚠
  • p.Ala449Asp Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala449fs Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala522Thr Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala535fs Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala535Val Single submitter ⚠
  • p.Ala57_Gln58insArgProLeuGluMetAla Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala629Pro Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala629Thr Single submitter ⚠
  • p.Ala660Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala678Ser Single submitter autoinflammatory syndrome ⚠
  • p.Ala678Thr Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala678Val Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala684Gly Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala708Asp Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala724Val Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala815Ser Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala820Val Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala838Ser Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala877Ser Single submitter familial cold autoinflammatory syndrome 2
  • p.Ala928Ser Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala939Gly Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Ala969Thr Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg1016Gln Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg1021Trp Single submitter familial cold autoinflammatory syndrome 2 ⚠
  • p.Arg1030Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg1046fs Single submitter familial cold autoinflammatory syndrome 2
  • p.Arg122Ser Single submitter ⚠
  • p.Arg12Cys Single submitter familial cold autoinflammatory syndrome 2 ⚠