Sugi Variant

Sugi Variant/TNFRSF1A

TNFRSF1A — 583 ClinVar variants

All ClinVar germline TNFRSF1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 234 flagged for review →

13 Pathogenic · 6 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 44 Conflicting · 35 Benign · 17 Benign/Likely benign · 195 Likely benign · 255 Uncertain significance

Full TNFRSF1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 234

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

Predictors vs ClinVar 4

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

Predictors agree, ClinVar conflicts 19

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

Predictors lean, ClinVar uncertain 178

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 178

Predictors split 33

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

All TNFRSF1A variants

Pathogenic 13

  • p.Cys59Arg Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Cys84Tyr Multiple submitters TNFRSF1A-related disorder
  • p.Thr79Met Multiple submitters TNFRSF1A-related disorder
  • p.Cys102Trp Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Cys58Phe Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Cys81Phe Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Arg121_Asp122insAlaArgHisArg No assertion criteria CHARGE syndrome
  • p.Cys117Arg No assertion criteria TNF receptor 1-associated periodic fever syndrome
  • p.Cys117Tyr No assertion criteria TNF receptor 1-associated periodic fever syndrome
  • p.Cys62Tyr No assertion criteria TNF receptor 1-associated periodic fever syndrome
  • p.Cys99Ser No assertion criteria TNF receptor 1-associated periodic fever syndrome
  • p.His155Tyr No assertion criteria Behcet disease ⚠
  • p.His51Tyr No assertion criteria TNF receptor 1-associated periodic fever syndrome ⚠

Pathogenic/Likely pathogenic 6

  • p.Cys102Tyr Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Cys59Ser Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Cys59Tyr Multiple submitters TNFRSF1A-related disorder
  • p.Cys72Arg Multiple submitters autoinflammatory syndrome
  • p.Cys99Arg Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Ile199Asn Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠

Likely pathogenic 18

  • p.Arg121Trp Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • c.472+1G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.472+2T>C Single submitter
  • c.472+2T>G Single submitter TNFRSF1A-related disorder
  • p.Arg106Gln Single submitter ⚠
  • p.Cys102Phe Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Cys102Ser Single submitter
  • p.Cys117Gly Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Cys127Tyr Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Cys58Gly Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Cys62Gly Single submitter Inborn genetic diseases
  • p.Cys72Phe Single submitter autoinflammatory syndrome
  • p.Cys72Tyr Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Cys81Arg Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Cys84Arg Single submitter Inborn genetic diseases
  • p.Tyr318fs Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Tyr49Cys Single submitter TNFRSF1A-related disorder
  • p.Tyr67Cys Single submitter TNFRSF1A-related disorder

Conflicting classifications of pathogenicity 44

  • c.1058-4G>C Single submitter autoinflammatory syndrome
  • c.1058-6C>G Single submitter autoinflammatory syndrome
  • c.1058-8C>G Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.472+7G>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.552-16C>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.626-6C>T Single submitter autoinflammatory syndrome
  • c.-284delC Single submitter autoinflammatory syndrome
  • c.-96C>T Single submitter autoinflammatory syndrome
  • c.*252A>G Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.*64T>C Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Arg121Gln Single submitter autoinflammatory syndrome ⚠
  • p.Arg128= Single submitter autoinflammatory syndrome
  • p.Arg312Lys Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg370= Single submitter autoinflammatory syndrome
  • p.Asn145Ser Single submitter autoinflammatory syndrome ⚠
  • p.Asn151Ser Single submitter TNFRSF1A-related disorder ⚠
  • p.Asn201= Single submitter autoinflammatory syndrome
  • p.Asn336Lys Single submitter autoinflammatory syndrome ⚠
  • p.Asn94Lys Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Asp41Glu Single submitter autoinflammatory syndrome ⚠
  • p.Asp41His Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Glu113= Single submitter autoinflammatory syndrome
  • p.Glu17= Single submitter autoinflammatory syndrome
  • p.Glu83= Single submitter autoinflammatory syndrome
  • p.Glu85Asp Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Gly443Val Single submitter autoinflammatory syndrome ⚠
  • p.Gly76= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.His346Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile199Thr Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Lys161Arg Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Phe229Leu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Phe89Leu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro215= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Pro448Leu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro75Leu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ser188Thr Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ser296Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser4= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Ser402= Single submitter autoinflammatory syndrome
  • p.Thr164= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Thr262Ala Single submitter autoinflammatory syndrome ⚠
  • p.Thr280Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr90Ile Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Val6Met Single submitter TNF receptor 1-associated periodic fever syndrome ⚠

Benign 35

Benign/Likely benign 17

  • c.1058-16G>A Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • c.193+6G>A Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • c.194-18_194-17del Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • c.194-29G>A Multiple submitters
  • c.40-9C>A Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • c.625+10A>G Multiple submitters autoinflammatory syndrome
  • c.626-32G>T Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • c.769-3C>T Multiple submitters autoinflammatory syndrome
  • p.Arg238= Multiple submitters autoinflammatory syndrome
  • p.Leu329= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Pro12= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Ser272= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Ser86= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Thr153= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Thr263= Multiple submitters autoinflammatory syndrome
  • p.Thr5= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Tyr49= Multiple submitters TNF receptor 1-associated periodic fever syndrome

Likely benign 195

  • c.1057+16_1057+18del Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • c.1058-4G>A Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • c.193+18C>T Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • c.473-16G>A Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • c.473-4A>G Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • c.551+18C>A Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Ala309= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Ala315Thr Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Ala330Thr Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Asp41= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Cys81= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Glu419= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Gly320= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Gly320Glu Multiple submitters
  • p.Ile334= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Leu224= Multiple submitters autoinflammatory syndrome
  • p.Leu338Phe Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Leu369= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Lys186= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Pro287= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Ser137= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Ser295= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Ser56= Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • c.1057+11C>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.1057+14G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.1057+16_1057+18dup Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.1057+16G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.1057+18C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.1058-12G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.1058-13C>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.1058-13C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.1058-15C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.1058-17G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.1058-5C>G Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.1058-5C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.1058-8C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.1058-9T>C Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.1058-9T>G Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.193+20G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.193+7G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.193+9A>C Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.194-14G>C Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.194-15C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.194-8A>G Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.322+15G>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.322+19G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.323-17T>C Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.323-18A>G Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.323-5A>C Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.323-6C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.39+11G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.39+17del Single submitter
  • c.39+7C>A Single submitter
  • c.39+7C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.40-13G>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.40-19C>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.40-19C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.40-208G>A Single submitter
  • c.40-217G>A Single submitter
  • c.40-268_40-267del Single submitter
  • c.40-304T>C Single submitter
  • c.40-6C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.472+11C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.472+13C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.472+18G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.472+20G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.472+7G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.473-17C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.473-5T>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.473-7_473-6insTCCTG Single submitter
  • c.473-7C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.551+1066_551+1068del Single submitter
  • c.552-1031G>A Single submitter
  • c.552-12C>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.552-14G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.552-16C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.552-18T>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.552-8dup Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.625+10del Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.625+16C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.625+18G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.625+8G>C Single submitter
  • c.626-13G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.626-18C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.739+10G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.740-16C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.740-19T>C Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.768+42del Single submitter
  • c.769-11C>G Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.769-11C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.769-12T>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.769-19G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.769-19G>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.769-20C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.769-23_769-19delTTGCGinsCTGCT Single submitter
  • c.769-9C>G Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.-233C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.*387A>G Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Ala308= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Ala345= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Ala361= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Ala399= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Ala405= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Ala440= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Arg106= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Arg133= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Arg238Gln Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Arg376= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Arg397= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Arg409Gln Single submitter Inborn genetic diseases
  • p.Arg455= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Asn177= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Asp429= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Asp71= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Asp8= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Cys182= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Cys44= Single submitter
  • p.Gln53= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Glu138= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Glu190= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Glu438Lys Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Gly209= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Gly257= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Gly26= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Gly261= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Gly278= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Gly379= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Gly432= Single submitter
  • p.Gly443= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Ile218= Single submitter
  • p.Ile385= Single submitter
  • p.Ile437= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Ile50= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu11= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu18= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu19= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu194= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu213= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu216= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu228= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu232= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu267= Single submitter
  • p.Leu283= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu3= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu34= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu359= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu378= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu380= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu390= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu418= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu441= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu447= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu453= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Lys203= Single submitter
  • p.Lys340Glu Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Lys372= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Phe220= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Phe279= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Pro271= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Pro281= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Pro289Leu Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Pro301= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Pro335= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Pro367= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Pro368= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Pro448= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Pro75= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Ser183= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Ser331= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Ter456= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Thr123= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Thr192= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Thr210= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Thr264= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Thr276= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Thr298= Single submitter
  • p.Thr353= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Thr411= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Thr417= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Thr79= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Thr90= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Tyr135= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Tyr244= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Tyr360= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Val124= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Val154= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Val20= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Val27= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Val288= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Val288Met Single submitter Inborn genetic diseases
  • c.1058-7C>T No assertion criteria TNFRSF1A-related disorder
  • c.551+1064_551+1068dup No assertion criteria TNFRSF1A-related disorder
  • c.551+1065_551+1068del No assertion criteria TNFRSF1A-related disorder
  • c.552-945G>A No assertion criteria TNFRSF1A-related disorder
  • c.552-967A>G No assertion criteria TNFRSF1A-related disorder

Uncertain significance 255

  • c.194-14G>A Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • c.323-3C>G Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • c.40-3C>T Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • c.40-5C>G Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • c.472+6C>T Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Ala405Glu Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ala450Gly Multiple submitters autoinflammatory syndrome ⚠
  • p.Ala450Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg128Gly Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg387Gln Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg387Trp Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg394Ser Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg409Leu Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg409Trp Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg410Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg413Gln Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg426Cys Multiple submitters ⚠
  • p.Asn306Lys Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Asp436Gly Multiple submitters autoinflammatory syndrome ⚠
  • p.Asp71Val Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Cys442Ser Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Glu138Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu178Lys Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Glu419Gly Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Gly257Arg Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Gly443Arg Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Gly87Ser Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.His346Gln Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.His95Tyr Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Leu227Val Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Leu267Val Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro275Ser Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro333Ser Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ser226Cys Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ser56Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Thr153Ile Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Thr276_Pro287del Multiple submitters TNF receptor 1-associated periodic fever syndrome
  • p.Val112Met Multiple submitters autoinflammatory syndrome ⚠
  • p.Val124Met Multiple submitters autoinflammatory syndrome ⚠
  • p.Val154Met Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Val31Gly Multiple submitters TNF receptor 1-associated periodic fever syndrome ⚠
  • c.1058-11C>T Single submitter
  • c.1058-5C>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.193+1G>C Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.323-30_323-1del Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.323-3C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.323-4C>G Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.40-1092C>T Single submitter
  • c.472+6C>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.473-36_473-15dup Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.551+6T>C Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.739+5G>C Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.739+6_739+9del Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.769-5_769-4del Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.-12T>C Single submitter
  • c.-62C>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.*148C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.*178C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.*195G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.*263C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.*297G>A Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.*374T>G Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.*38C>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • c.*394A>T Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Ala268Asp Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ala308Ser Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ala321Val Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ala326Glu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ala328Thr Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ala345Thr Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ala361Thr Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ala361Val Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ala416Gly Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ala416Thr Single submitter
  • p.Ala416Val Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ala440Glu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ala440Thr Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ala91Thr Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg121_Asp122insCysThrValAspArg Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Arg121Gly Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg121Pro Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg133Gln Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg133Trp Single submitter ⚠
  • p.Arg238Trp Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg312Thr Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg370Cys Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg37Trp Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg394His Single submitter ⚠
  • p.Arg397His Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg408Gly Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg413Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg423Pro Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Arg97_Leu100del Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Asn270Lys Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Asn70del Single submitter autoinflammatory syndrome
  • p.Asn70Ser Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Asn94Tyr Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Asp120Asn Single submitter TNFRSF1A-related disorder ⚠
  • p.Asp122Gly Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Asp322Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp343Glu Single submitter ⚠
  • p.Asp41Val Single submitter ⚠
  • p.Asp429Tyr Single submitter TNFRSF1A-related disorder
  • p.Asp80Asn Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Cys105Trp Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Cys125Gly Single submitter ⚠
  • p.Cys143Ser Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Cys195Ser Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Cys395Trp Single submitter Inborn genetic diseases ⚠
  • p.Cys442Tyr Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Cys44Arg Single submitter ⚠
  • p.Cys81Gly Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Cys81Trp Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Gln111Arg Single submitter ⚠
  • p.Glu113Lys Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Glu138Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Glu178Val Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Glu17Lys Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Glu200Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu258Asp Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Glu342Gly Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Glu364Gly Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Glu389Lys Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Glu38Gln Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Glu398Lys Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Glu438Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu438Gln Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Gly152Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Gly152fs Single submitter
  • p.Gly152Glu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Gly209Val Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Gly21Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Gly257Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Gly257Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly257Trp Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Gly302Cys Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Gly302fs Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Gly393Arg Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Gly393Trp Single submitter autoinflammatory syndrome
  • p.Gly443Cys Single submitter autoinflammatory syndrome ⚠
  • p.Gly76_Gln77insProGlyProGly Single submitter
  • p.His169Arg Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.His51Arg Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ile28Val Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ile324Thr Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ile334Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile334Leu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ile334Val Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Leu140Ile Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Leu140Pro Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu16= Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Leu213Pro Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Leu325Arg Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Leu431Pro Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Leu441His Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Leu454Pro Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Leu68Phe Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Leu96Pro Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Leu9Val Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Lys107Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys107Gln Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Lys129Arg Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Lys187Arg Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Lys187Ile Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Lys203_Asp207delinsAsn Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Lys203Glu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Lys372Thr Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Lys48Glu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Phe285Leu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Phe293Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe89Ile Single submitter autoinflammatory syndrome ⚠
  • p.Pro197Arg Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro215Leu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro24His Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro266= Single submitter
  • p.Pro266Ser Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro269Arg Single submitter ⚠
  • p.Pro271Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro271Ser Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro275Leu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro287Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro289Ser Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro301His Single submitter ⚠
  • p.Pro301Ser Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro305Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro305Arg Single submitter ⚠
  • p.Pro310Leu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro316Leu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro317Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro317Ser Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro32Arg Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro335His Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro337Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro337Ser Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro367Ser Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro368Gln Single submitter ⚠
  • p.Pro368Ser Single submitter Inborn genetic diseases
  • p.Pro412Ala Single submitter ⚠
  • p.Pro412Leu Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Pro412Ser Single submitter ⚠
  • p.Pro448Arg Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro448Gln Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro451Ser Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Pro7Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser103Cys Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ser115Phe Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ser115Pro Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ser183Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser241Phe Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ser350Asn Single submitter ⚠
  • p.Ser402Gly Single submitter ⚠
  • p.Ser42Thr Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ser452Arg Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ser452Cys Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ser4Phe Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Ser56Pro Single submitter ⚠
  • p.Ser86Arg Single submitter Inborn genetic diseases ⚠
  • p.Thr164Ile Single submitter ⚠
  • p.Thr192Lys Single submitter ⚠
  • p.Thr192Met Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Thr205Asn Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Thr211Lys Single submitter TNF receptor 1-associated periodic fever syndrome
  • p.Thr262Ser Single submitter ⚠
  • p.Thr264Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Thr264Asn Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Thr276Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr300Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Thr300Ile Single submitter TNFRSF1A-related disorder ⚠
  • p.Thr300Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr327Ile Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Thr358Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Thr406Ile Single submitter ⚠
  • p.Thr417Met Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Thr5Asn Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Thr66Ile Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Thr90Pro Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Tyr132fs Single submitter
  • p.Tyr135Cys Single submitter TNFRSF1A-related disorder
  • p.Tyr236His Single submitter autoinflammatory syndrome ⚠
  • p.Val124Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Val165Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Val165Leu Single submitter Inborn genetic diseases ⚠
  • p.Val202Asp Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Val202Ile Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Val20Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Val20Met Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Val217Ala Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Val27Asp Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Val314Met Single submitter autoinflammatory syndrome ⚠
  • p.Val362Ala Single submitter Inborn genetic diseases ⚠
  • p.Val363Leu Single submitter Inborn genetic diseases ⚠
  • p.Val366Glu Single submitter TNF receptor 1-associated periodic fever syndrome ⚠
  • p.Val424Ala Single submitter ⚠
  • p.Arg397Cys No assertion criteria ⚠
  • p.Pro266Thr No assertion criteria TNF receptor 1-associated periodic fever syndrome ⚠