Sugi Variant

Sugi Variant/IL1RN

IL1RN — 242 ClinVar variants

All ClinVar germline IL1RN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 14 Conflicting · 33 Benign · 10 Benign/Likely benign · 74 Likely benign · 99 Uncertain significance

Full IL1RN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 64

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 3

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

Predictors lean, ClinVar uncertain 47

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 14

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

All IL1RN variants

Pathogenic 6

  • p.Glu77Ter Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Asp72_Ile76del Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Gln45Ter Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Glu18Ter Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Glu9Ter Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Gln54Ter No assertion criteria sterile multifocal osteomyelitis with periostitis and pustulosis

Pathogenic/Likely pathogenic 1

  • p.Asn52fs Multiple submitters IL1RN-related disorders

Likely pathogenic 5

  • p.Ser21= Multiple submitters IL1RN-related disorders
  • c.10+2T>C Single submitter autoinflammatory syndrome
  • p.Leu16fs Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Phe48fs Single submitter IL1RN-related disorder
  • p.Ser21Ter Single submitter

Conflicting classifications of pathogenicity 14

  • c.117-9C>T Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.318+12C>G Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*162C>T Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Ala124Thr Single submitter autoinflammatory syndrome ⚠
  • p.Asn64= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Asp112= Single submitter autoinflammatory syndrome
  • p.Asp22= Single submitter autoinflammatory syndrome
  • p.Glu177Lys Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Glu69= Single submitter autoinflammatory syndrome
  • p.Gly165= Single submitter autoinflammatory syndrome
  • p.Leu81Val Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Lys96= Single submitter autoinflammatory syndrome
  • p.Ser138= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Tyr7Cys Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis

Benign 33

Benign/Likely benign 10

  • c.318+19T>G Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.319-17C>T Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.73+19C>T Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.73+8A>C Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.-12G>C Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Ala57= Multiple submitters autoinflammatory syndrome
  • p.Asp153= Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.His79= Multiple submitters autoinflammatory syndrome
  • p.Ser130= Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Thr23= Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis

Likely benign 74

  • c.10+14A>C Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.116+15A>G Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.206-11T>C Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.319-20G>T Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Asp176= Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Gln36= Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Glu100= Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Gly87= Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Phe19Leu Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • c.10+11T>C Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.10+12C>A Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.10+18dup Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.10+8C>T Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.11-14C>T Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.11-16A>C Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.11-17C>T Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.116+10C>A Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.116+13C>T Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.117-14C>G Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.117-17G>C Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.117-18A>C Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.205+14A>G Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.205+15G>A Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.206-11T>G Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.206-14C>T Single submitter
  • c.206-4C>G Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.318+17G>A Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.318+9A>G Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.319-12T>C Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.319-16_319-12del Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.73+10T>C Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.73+16G>T Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.73+18T>C Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.73+9T>C Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.-6C>T Single submitter
  • c.-83G>A Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*1039C>T Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*1156T>C Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*310T>C Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Ala139= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Ala149= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Ala37= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Arg122= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Arg8His Single submitter
  • p.Asn52= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Asn53= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Asp163= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Gln119= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Glu16= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Gly165Ser Single submitter
  • p.Gly6= Single submitter
  • p.Gly62= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Gly88= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Gly98= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.His86= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Leu105= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Leu113= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Leu81= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Leu92= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Phe123= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Phe173= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Phe38= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Pro132= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Pro142= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Pro155= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Pro162= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Ser114= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Ser128= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Ter178= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Thr13= Single submitter
  • p.Thr134= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Thr148= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Thr47= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Val73= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis

Uncertain significance 99

  • c.*119C>T Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Ala140Thr Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Ala2Thr Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Arg102Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg127Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg26Gln Multiple submitters autoinflammatory syndrome ⚠
  • p.Asn20His Multiple submitters gastric cancer
  • p.Asn66Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Cys91Phe Multiple submitters autoinflammatory syndrome ⚠
  • p.Gly131Ser Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Gly143Ser Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Gly15Glu Multiple submitters autoinflammatory syndrome
  • p.Gly62Glu Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Ile71Thr Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Lys89Asn Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Phe125Cys Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Pro27Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr23Met Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Val166Ile Multiple submitters sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • c.10+4A>G Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.11-1G>T Single submitter
  • c.205+8G>A Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.318+3A>G Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.318+9A>T Single submitter autoinflammatory syndrome
  • c.-71A>G Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.-95C>G Single submitter autoinflammatory syndrome
  • c.*1040G>A Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*1070T>G Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*1145A>G Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*130C>T Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*165C>T Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*245G>A Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*290T>A Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*303C>G Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*350C>G Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*369T>A Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*382C>T Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*601C>G Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*605T>C Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • c.*75C>G Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Ala149Val Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Ala2Ser Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Ala37Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala37Ser Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Ala57Ser Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Arg102fs Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Arg122Cys Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Arg122Pro Single submitter
  • p.Arg127His Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Arg127Leu Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Arg26Pro Single submitter Inborn genetic diseases ⚠
  • p.Asp129fs Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Asp176Asn Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Asp176Tyr Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Cys141= Single submitter autoinflammatory syndrome
  • p.Cys141Ser Single submitter autoinflammatory syndrome ⚠
  • p.Gln119His Single submitter Inborn genetic diseases ⚠
  • p.Glu100Lys Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Glu115Lys Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Glu164Lys Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Glu9Val Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Gly10Arg Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Gly131Cys Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Gly165Ala Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Gly58Val Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Gly62Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly87Arg Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Gly87Glu Single submitter Inborn genetic diseases ⚠
  • p.His79Pro Single submitter Inborn genetic diseases ⚠
  • p.Ile126Phe Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Ile126Thr Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Ile24Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile76Thr Single submitter Inborn genetic diseases ⚠
  • p.Leu67Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu6Phe Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Leu6Val Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Leu83= Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Leu92Pro Single submitter ⚠
  • p.Lys118Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys70Asn Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Met150Ile Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Met150Thr Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Met167Lys Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Phe82Tyr Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Pro132Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro27Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro27Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser130Gly Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Ser28Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser33Arg Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Ser33Gly Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Thr111fs Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis
  • p.Thr159Ile Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Tyr49His Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Tyr7His Single submitter autoinflammatory syndrome
  • p.Val156Ile Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Val43Ala Single submitter ⚠
  • p.Val56Ile Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠
  • p.Val74Ile Single submitter sterile multifocal osteomyelitis with periostitis and pustulosis ⚠