PSMB8 — 258 ClinVar variants
All ClinVar germline PSMB8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →
15 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 16 Conflicting · 8 Benign · 11 Benign/Likely benign · 80 Likely benign · 121 Uncertain significance
Full PSMB8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 105
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PSMB8 p.Arg216Gln
Conflicting
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Arg272Gln
Conflicting
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Gly61Arg
Conflicting
Single submitter
Inborn genetic diseases
-
PSMB8 p.Pro221Leu
Conflicting
Single submitter
Inborn genetic diseases
-
PSMB8 p.Tyr234Cys
Conflicting
Single submitter
autoinflammatory syndrome
Predictors lean, ClinVar uncertain 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PSMB8 p.Arg192Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PSMB8 p.Arg46Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PSMB8 p.Arg91Trp
Uncertain significance
Multiple submitters
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Asn157Ser
Uncertain significance
Multiple submitters
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Glu222Asp
Uncertain significance
Multiple submitters
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Gly182Arg
Uncertain significance
Multiple submitters
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Gly209Arg
Uncertain significance
Multiple submitters
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Gly95Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PSMB8 p.His237Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PSMB8 p.Lys252Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PSMB8 p.Met165Val
Uncertain significance
Multiple submitters
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Met211Ile
Uncertain significance
Multiple submitters
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Phe80Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PSMB8 p.Ser90Phe
Uncertain significance
Multiple submitters
PSMB8-related dominant condition
-
PSMB8 p.Val186Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PSMB8 p.Val245Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PSMB8 p.Val245Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PSMB8 p.Ala100Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMB8 p.Ala151Thr
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Ala207Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMB8 p.Ala43Ser
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
- PSMB8 p.Ala70Thr Uncertain significance Single submitter
-
PSMB8 p.Ala92Pro
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Ala9Val
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Arg102Trp
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Arg129Leu
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Arg136Ser
Uncertain significance
Single submitter
autoinflammatory syndrome
-
PSMB8 p.Arg145His
Uncertain significance
Single submitter
autoinflammatory syndrome
-
PSMB8 p.Arg14Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMB8 p.Arg163Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMB8 p.Arg63Lys
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Asn64Ile
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Asp123Asn
Uncertain significance
Single submitter
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Asp266Glu
Uncertain significance
Single submitter
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Gln270His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMB8 p.Gln276Glu
Uncertain significance
Single submitter
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Glu144Lys
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Glu188Lys
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Glu253Asp
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Glu52Lys
Uncertain significance
Single submitter
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Gly12Val
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Gly243Arg
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Gly244Val
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Gly47Arg
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.His269Gln
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.His71Arg
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Ile173Val
Uncertain significance
Single submitter
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Ile232Leu
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Ile232Thr
Uncertain significance
Single submitter
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Ile67Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMB8 p.Ile85Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMB8 p.Leu131Pro
Uncertain significance
Single submitter
autoinflammatory syndrome
-
PSMB8 p.Leu183Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMB8 p.Leu183Pro
Uncertain significance
Single submitter
autoinflammatory syndrome
-
PSMB8 p.Leu267Arg
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Met117Ile
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Met48Ile
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Phe35Val
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Ser156Phe
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
- PSMB8 p.Ser242Phe Uncertain significance Single submitter
- PSMB8 p.Ser242Pro Uncertain significance Single submitter
-
PSMB8 p.Ser28Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMB8 p.Ser34Gly
Uncertain significance
Single submitter
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Ser56Tyr
Uncertain significance
Single submitter
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Ser96Tyr
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Ser99Gly
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Thr51Pro
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Thr73Ile
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Tyr33His
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Val106Met
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Val65Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMB8 p.Val65Ile
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
Predictors split 28
The independent predictors disagree with each other — read with care.
-
PSMB8 p.Ala224Ser
Uncertain significance
Multiple submitters
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Arg163Trp
Uncertain significance
Multiple submitters
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Arg272Trp
Uncertain significance
Multiple submitters
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Arg141Gln
Uncertain significance
Single submitter
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Arg145Cys
Conflicting
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Arg216Trp
Uncertain significance
Single submitter
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Arg229Cys
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Arg229His
Conflicting
Single submitter
proteosome-associated autoinflammatory syndrome
- PSMB8 p.Asn142Ser Uncertain significance Single submitter
-
PSMB8 p.Asp239Asn
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Cys120Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSMB8 p.Cys120Trp
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Cys124Ser
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Gly244Asp
Uncertain significance
Single submitter
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Ile98Ser
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
- PSMB8 p.Leu44Ser Uncertain significance Single submitter
-
PSMB8 p.Leu57Pro
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Met117Thr
Uncertain significance
Single submitter
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Met172Thr
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Phe53Leu
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Pro111Thr
Uncertain significance
Single submitter
proteasome-associated autoinflammatory syndrome 1
-
PSMB8 p.Pro45Arg
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Pro45Thr
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Ser149Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PSMB8 p.Ser171Asn Uncertain significance Single submitter
-
PSMB8 p.Tyr225Cys
Likely benign
Single submitter
Inborn genetic diseases
-
PSMB8 p.Tyr271Cys
Uncertain significance
Single submitter
proteosome-associated autoinflammatory syndrome
-
PSMB8 p.Ser118Pro
Pathogenic
No assertion criteria
proteasome-associated autoinflammatory syndrome 1
All PSMB8 variants
Pathogenic 15
- p.Thr75Met Multiple submitters PSMB8-related disorder
- p.Arg11Ter Single submitter proteosome-associated autoinflammatory syndrome
- p.Arg141Ter Single submitter proteosome-associated autoinflammatory syndrome
- p.Arg145fs Single submitter proteosome-associated autoinflammatory syndrome
- p.Asn204fs Single submitter proteosome-associated autoinflammatory syndrome
- p.Asp212fs Single submitter proteosome-associated autoinflammatory syndrome
- p.Cys7Ter Single submitter proteosome-associated autoinflammatory syndrome
- p.Glu128fs Single submitter proteosome-associated autoinflammatory syndrome
- p.Leu113fs Single submitter proteosome-associated autoinflammatory syndrome
- p.Met37fs Single submitter proteosome-associated autoinflammatory syndrome
- p.Phe78fs Single submitter proteosome-associated autoinflammatory syndrome
- p.Ser17Ter Single submitter proteosome-associated autoinflammatory syndrome
- p.Gly201Val No assertion criteria proteasome-associated autoinflammatory syndrome 1
- p.Lys105Gln No assertion criteria proteasome-associated autoinflammatory syndrome 1
- p.Ser118Pro No assertion criteria proteasome-associated autoinflammatory syndrome 1 ⚠
Pathogenic/Likely pathogenic 2
- p.Cys135Ter Multiple submitters proteosome-associated autoinflammatory syndrome
- p.Gln161Ter Multiple submitters proteosome-associated autoinflammatory syndrome
Likely pathogenic 5
- c.147+1G>T Single submitter proteosome-associated autoinflammatory syndrome
- c.69_147+42del Single submitter proteosome-associated autoinflammatory syndrome
- p.Arg91Pro Single submitter
- p.Gln55Ter Single submitter PSMB8-related disorder
- p.Pro36fs Single submitter proteasome-associated autoinflammatory syndrome 1
Conflicting classifications of pathogenicity 16
- c.407+7G>A Single submitter proteosome-associated autoinflammatory syndrome
- c.537+8C>T Single submitter autoinflammatory syndrome
- c.*6G>C Single submitter autoinflammatory syndrome
- c.*8G>A Single submitter autoinflammatory syndrome
- p.Arg11fs Single submitter proteosome-associated autoinflammatory syndrome
- p.Arg145Cys Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Arg216Gln Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Arg229His Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Arg272Gln Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Asp60= Single submitter proteasome-associated autoinflammatory syndrome 1
- p.Gly61Arg Single submitter Inborn genetic diseases ⚠
- p.Leu268= Single submitter proteosome-associated autoinflammatory syndrome
- p.Lys252= Single submitter autoinflammatory syndrome
- p.Phe80= Single submitter autoinflammatory syndrome
- p.Pro221Leu Single submitter Inborn genetic diseases ⚠
- p.Tyr234Cys Single submitter autoinflammatory syndrome ⚠
Benign 8
- c.537+63C>T Multiple submitters
- c.742+85G>T Multiple submitters
- c.147+244T>C Single submitter
- c.147+97T>G Single submitter
- c.538-70C>A Single submitter
- c.742+232C>T Single submitter
- c.*140G>A Single submitter proteasome-associated autoinflammatory syndrome 1
- c.*24G>T Single submitter proteasome-associated autoinflammatory syndrome 1
Benign/Likely benign 11
- c.148-18C>T Multiple submitters proteosome-associated autoinflammatory syndrome
- c.407+6C>T Multiple submitters proteasome-associated autoinflammatory syndrome 1
- p.Ala43= Multiple submitters proteasome-associated autoinflammatory syndrome 1
- p.Asn64= Multiple submitters autoinflammatory syndrome
- p.Gln161= Multiple submitters autoinflammatory syndrome
- p.Gln49Lys Multiple submitters proteosome-associated autoinflammatory syndrome
- p.Gly244= Multiple submitters proteosome-associated autoinflammatory syndrome
- p.Gly8Arg Multiple submitters proteosome-associated autoinflammatory syndrome
- p.Leu167= Multiple submitters proteosome-associated autoinflammatory syndrome
- p.Thr74= Multiple submitters proteosome-associated autoinflammatory syndrome
- p.Thr74Ser Multiple submitters proteosome-associated autoinflammatory syndrome
Likely benign 80
- p.Asp254= Multiple submitters proteosome-associated autoinflammatory syndrome
- p.His189= Multiple submitters proteosome-associated autoinflammatory syndrome
- p.Lys105= Multiple submitters proteosome-associated autoinflammatory syndrome
- p.Pro20= Multiple submitters proteosome-associated autoinflammatory syndrome
- c.147+15G>A Single submitter proteosome-associated autoinflammatory syndrome
- c.147+19C>T Single submitter proteosome-associated autoinflammatory syndrome
- c.147+7del Single submitter proteosome-associated autoinflammatory syndrome
- c.147+7G>A Single submitter proteosome-associated autoinflammatory syndrome
- c.148-13T>C Single submitter proteosome-associated autoinflammatory syndrome
- c.148-15C>T Single submitter proteosome-associated autoinflammatory syndrome
- c.148-17C>G Single submitter proteosome-associated autoinflammatory syndrome
- c.148-5A>T Single submitter proteosome-associated autoinflammatory syndrome
- c.295+12C>T Single submitter proteosome-associated autoinflammatory syndrome
- c.296-11T>A Single submitter proteosome-associated autoinflammatory syndrome
- c.296-15T>C Single submitter proteosome-associated autoinflammatory syndrome
- c.296-15T>G Single submitter proteosome-associated autoinflammatory syndrome
- c.296-4C>T Single submitter proteosome-associated autoinflammatory syndrome
- c.408-17A>G Single submitter proteosome-associated autoinflammatory syndrome
- c.537+17C>A Single submitter proteosome-associated autoinflammatory syndrome
- c.537+18T>C Single submitter proteosome-associated autoinflammatory syndrome
- c.538-10C>T Single submitter proteosome-associated autoinflammatory syndrome
- c.538-13T>A Single submitter
- c.538-14C>G Single submitter proteosome-associated autoinflammatory syndrome
- c.538-4A>G Single submitter
- c.538-8T>C Single submitter proteosome-associated autoinflammatory syndrome
- c.742+15C>T Single submitter proteosome-associated autoinflammatory syndrome
- c.743-5C>T Single submitter proteosome-associated autoinflammatory syndrome
- p.Ala2= Single submitter proteosome-associated autoinflammatory syndrome
- p.Ala224= Single submitter proteosome-associated autoinflammatory syndrome
- p.Ala86= Single submitter proteosome-associated autoinflammatory syndrome
- p.Ala9= Single submitter proteosome-associated autoinflammatory syndrome
- p.Arg102= Single submitter proteosome-associated autoinflammatory syndrome
- p.Arg129= Single submitter proteosome-associated autoinflammatory syndrome
- p.Arg192= Single submitter proteosome-associated autoinflammatory syndrome
- p.Arg216= Single submitter proteosome-associated autoinflammatory syndrome
- p.Arg230= Single submitter proteosome-associated autoinflammatory syndrome
- p.Arg46= Single submitter proteosome-associated autoinflammatory syndrome
- p.Arg63= Single submitter proteosome-associated autoinflammatory syndrome
- p.Arg91= Single submitter proteosome-associated autoinflammatory syndrome
- p.Asn104= Single submitter proteosome-associated autoinflammatory syndrome
- p.Asp187= Single submitter proteosome-associated autoinflammatory syndrome
- p.Asp187Asn Single submitter Inborn genetic diseases
- p.Asp5= Single submitter proteosome-associated autoinflammatory syndrome
- p.Cys7= Single submitter proteosome-associated autoinflammatory syndrome
- p.Glu128= Single submitter proteosome-associated autoinflammatory syndrome
- p.Glu188= Single submitter proteosome-associated autoinflammatory syndrome
- p.Glu253= Single submitter proteosome-associated autoinflammatory syndrome
- p.Glu253Lys Single submitter Inborn genetic diseases
- p.Gly164= Single submitter proteosome-associated autoinflammatory syndrome
- p.Gly203= Single submitter proteosome-associated autoinflammatory syndrome
- p.His32Gln Single submitter Inborn genetic diseases
- p.Leu113= Single submitter proteosome-associated autoinflammatory syndrome
- p.Leu114= Single submitter proteosome-associated autoinflammatory syndrome
- p.Leu131= Single submitter proteosome-associated autoinflammatory syndrome
- p.Leu19= Single submitter proteosome-associated autoinflammatory syndrome
- p.Leu267= Single submitter proteosome-associated autoinflammatory syndrome
- p.Leu76= Single submitter proteosome-associated autoinflammatory syndrome
- p.Lys153= Single submitter proteosome-associated autoinflammatory syndrome
- p.Phe54= Single submitter proteosome-associated autoinflammatory syndrome
- p.Pro221= Single submitter proteosome-associated autoinflammatory syndrome
- p.Pro45= Single submitter proteosome-associated autoinflammatory syndrome
- p.Ser147= Single submitter proteosome-associated autoinflammatory syndrome
- p.Ser149= Single submitter proteosome-associated autoinflammatory syndrome
- p.Ser168= Single submitter proteosome-associated autoinflammatory syndrome
- p.Ser17= Single submitter proteosome-associated autoinflammatory syndrome
- p.Ser202= Single submitter proteosome-associated autoinflammatory syndrome
- p.Ser220= Single submitter proteosome-associated autoinflammatory syndrome
- p.Ser240= Single submitter proteosome-associated autoinflammatory syndrome
- p.Thr75= Single submitter proteosome-associated autoinflammatory syndrome
- p.Tyr185= Single submitter proteosome-associated autoinflammatory syndrome
- p.Tyr208= Single submitter proteosome-associated autoinflammatory syndrome
- p.Tyr225Cys Single submitter Inborn genetic diseases ⚠
- p.Val103= Single submitter proteosome-associated autoinflammatory syndrome
- p.Val103Met Single submitter Inborn genetic diseases
- p.Val106= Single submitter proteosome-associated autoinflammatory syndrome
- p.Val245= Single submitter proteosome-associated autoinflammatory syndrome
- p.Val6= Single submitter proteosome-associated autoinflammatory syndrome
- p.Val65= Single submitter proteosome-associated autoinflammatory syndrome
- c.135+10A>G No assertion criteria PSMB8-related disorder
- p.Thr32= No assertion criteria PSMB8-related disorder
Uncertain significance 121
- p.Ala224Ser Multiple submitters proteosome-associated autoinflammatory syndrome ⚠
- p.Ala77Thr Multiple submitters autoinflammatory syndrome
- p.Arg129Cys Multiple submitters autoinflammatory syndrome
- p.Arg129His Multiple submitters proteasome-associated autoinflammatory syndrome 1
- p.Arg163Trp Multiple submitters proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Arg192Gln Multiple submitters autoinflammatory syndrome
- p.Arg192Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg272Trp Multiple submitters proteosome-associated autoinflammatory syndrome ⚠
- p.Arg46Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg91Trp Multiple submitters proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Asn157Ser Multiple submitters proteosome-associated autoinflammatory syndrome ⚠
- p.Glu222Asp Multiple submitters proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Gly182Arg Multiple submitters proteosome-associated autoinflammatory syndrome ⚠
- p.Gly209Arg Multiple submitters proteosome-associated autoinflammatory syndrome ⚠
- p.Gly95Val Multiple submitters Inborn genetic diseases ⚠
- p.His237Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys252Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met165Val Multiple submitters proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Met211Ile Multiple submitters proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Phe80Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser90Phe Multiple submitters PSMB8-related dominant condition ⚠
- p.Thr200= Multiple submitters proteosome-associated autoinflammatory syndrome
- p.Val186Met Multiple submitters Inborn genetic diseases ⚠
- p.Val245Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val245Ile Multiple submitters Inborn genetic diseases ⚠
- c.147+5G>C Single submitter proteosome-associated autoinflammatory syndrome
- c.148-10_148-6del Single submitter proteosome-associated autoinflammatory syndrome
- c.296-5T>C Single submitter
- c.-35C>T Single submitter proteasome-associated autoinflammatory syndrome 1
- c.*116C>T Single submitter proteasome-associated autoinflammatory syndrome 1
- c.*178G>A Single submitter proteasome-associated autoinflammatory syndrome 1
- c.*231C>T Single submitter proteasome-associated autoinflammatory syndrome 1
- c.*57C>T Single submitter proteasome-associated autoinflammatory syndrome 1
- p.Ala100Gly Single submitter Inborn genetic diseases ⚠
- p.Ala151Thr Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Ala207Ser Single submitter Inborn genetic diseases ⚠
- p.Ala43Ser Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Ala70Thr Single submitter ⚠
- p.Ala92Pro Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Ala9Val Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Arg102Trp Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Arg129Leu Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Arg136= Single submitter proteosome-associated autoinflammatory syndrome
- p.Arg136Ser Single submitter autoinflammatory syndrome ⚠
- p.Arg141Gln Single submitter proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Arg145His Single submitter autoinflammatory syndrome ⚠
- p.Arg14Gly Single submitter Inborn genetic diseases ⚠
- p.Arg163Gln Single submitter Inborn genetic diseases ⚠
- p.Arg216Trp Single submitter proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Arg229Cys Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Arg38= Single submitter autoinflammatory syndrome
- p.Arg63Lys Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Arg91Gln Single submitter proteasome-associated autoinflammatory syndrome 1
- p.Asn142Ser Single submitter ⚠
- p.Asn64Ile Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Asp123Asn Single submitter proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Asp239Asn Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Asp266Glu Single submitter proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Cys120Arg Single submitter Inborn genetic diseases ⚠
- p.Cys120Trp Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Cys124Ser Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Gln270His Single submitter Inborn genetic diseases ⚠
- p.Gln276fs Single submitter proteosome-associated autoinflammatory syndrome
- p.Gln276Glu Single submitter proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Glu144Lys Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Glu188Lys Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Glu253Asp Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Glu260Ter Single submitter
- p.Glu52Lys Single submitter proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Gly12Val Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Gly243Arg Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Gly244Asp Single submitter proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Gly244Ser Single submitter proteosome-associated autoinflammatory syndrome
- p.Gly244Val Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Gly47Arg Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.His269Gln Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.His71Arg Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Ile173Val Single submitter proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Ile232Leu Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Ile232Thr Single submitter proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Ile67Thr Single submitter Inborn genetic diseases ⚠
- p.Ile85Thr Single submitter Inborn genetic diseases ⚠
- p.Ile98Ser Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Leu131Pro Single submitter autoinflammatory syndrome ⚠
- p.Leu183Phe Single submitter Inborn genetic diseases ⚠
- p.Leu183Pro Single submitter autoinflammatory syndrome ⚠
- p.Leu267Arg Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Leu44Ser Single submitter ⚠
- p.Leu4Val Single submitter proteosome-associated autoinflammatory syndrome
- p.Leu57Pro Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Met117Ile Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Met117Thr Single submitter proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Met172Thr Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Met48Ile Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Phe35Val Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Phe53Leu Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Pro111Thr Single submitter proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Pro45Arg Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Pro45Thr Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Ser149Leu Single submitter Inborn genetic diseases ⚠
- p.Ser156Phe Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Ser168Phe Single submitter Inborn genetic diseases
- p.Ser171Asn Single submitter ⚠
- p.Ser242Phe Single submitter ⚠
- p.Ser242Pro Single submitter ⚠
- p.Ser28Trp Single submitter Inborn genetic diseases ⚠
- p.Ser34Gly Single submitter proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Ser56Cys Single submitter proteasome-associated autoinflammatory syndrome 1
- p.Ser56Tyr Single submitter proteasome-associated autoinflammatory syndrome 1 ⚠
- p.Ser96Tyr Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Ser99Gly Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Ter277MetextTer? Single submitter proteosome-associated autoinflammatory syndrome
- p.Thr262fs Single submitter proteosome-associated autoinflammatory syndrome
- p.Thr51Pro Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Thr73Ile Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Tyr271Cys Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Tyr33His Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Val106Met Single submitter proteosome-associated autoinflammatory syndrome ⚠
- p.Val259Gly Single submitter proteosome-associated autoinflammatory syndrome
- p.Val65Ala Single submitter Inborn genetic diseases ⚠
- p.Val65Ile Single submitter proteosome-associated autoinflammatory syndrome ⚠