Sugi Variant

Sugi Variant/PLCG2

PLCG2 — 1816 ClinVar variants

All ClinVar germline PLCG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 771 flagged for review →

5 Pathogenic · 5 Likely pathogenic · 42 Conflicting · 104 Benign · 76 Benign/Likely benign · 701 Likely benign · 883 Uncertain significance

Full PLCG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 771

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 2

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

Predictors agree, ClinVar conflicts 24

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

Predictors lean, ClinVar uncertain 561

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 561

Predictors split 184

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 184

All PLCG2 variants

Pathogenic 5

Likely pathogenic 5

  • p.Asp1140Glu Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Asp1144Asn Single submitter ⚠
  • p.Gly699Ser Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Leu845Ser No assertion criteria autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Ser707Pro No assertion criteria autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

Conflicting classifications of pathogenicity 42

  • c.1934+4C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2581+10C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2739+19G>A Single submitter autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • c.3198+6G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.564+19C>T Single submitter autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • c.987-18C>A Single submitter familial cold autoinflammatory syndrome 3
  • p.Ala133Val Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala308Val Single submitter autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Arg1163= Single submitter
  • p.Arg1228Trp Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg700Gln Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Asp1018= Single submitter familial cold autoinflammatory syndrome 3
  • p.Gln1243His Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Gln387Pro Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Gln511His Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Glu619Lys Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Glu887Ala Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.His193Asp Single submitter PLCG2-related disorder ⚠
  • p.Ile141Val Single submitter Inborn genetic diseases ⚠
  • p.Leu835Ile Single submitter autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Met1141Lys Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Phe33Leu Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Pro1115Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro885Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser1172= Single submitter autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Ser1192Thr Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ser160= Single submitter familial cold autoinflammatory syndrome 3
  • p.Ser338= Single submitter familial cold autoinflammatory syndrome 3
  • p.Ser677= Single submitter familial cold autoinflammatory syndrome 3
  • p.Ser679Cys Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Thr168Ala Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Thr26Met Single submitter autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Thr431Met Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Thr829Ile Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Thr943Ser Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Tyr482His Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Val105Ile Single submitter Inborn genetic diseases ⚠
  • p.Val1104= Single submitter familial cold autoinflammatory syndrome 3
  • p.Val1165Ile Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Val30Leu Single submitter Inborn genetic diseases ⚠
  • p.Val860= Single submitter familial cold autoinflammatory syndrome 3
  • p.Val985Ile Single submitter PLCG2-related disorder ⚠

Benign 104

Benign/Likely benign 76

  • c.1194-18A>G Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1467+20C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1557+6G>C Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • c.1558-18C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1935-14G>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2054+11G>C Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2054+7G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2055-20C>A Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • c.2055-8T>C Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • c.2236-14C>G Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • c.2236-14C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2515-14T>G Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2739+8C>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.3052+10G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.3053-19C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.3198+20C>G Multiple submitters familial cold autoinflammatory syndrome 3
  • c.3482-3C>T Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • c.432-13T>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.432-14A>G Multiple submitters familial cold autoinflammatory syndrome 3
  • c.565-10A>G Multiple submitters familial cold autoinflammatory syndrome 3
  • c.648+12C>G Multiple submitters familial cold autoinflammatory syndrome 3
  • c.766-13T>G Multiple submitters familial cold autoinflammatory syndrome 3
  • c.867+12G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ala238= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ala58= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Arg1224His Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Arg268Trp Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Arg461= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Asn1031= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asn571Ser Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asn604= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asn859= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asn946Ser Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asp383= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asp384= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asp473= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asp698= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Asp754= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Asp826= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Glu1138= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Glu1191= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Glu200= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Glu721Lys Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Gly462= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.His193Gln Multiple submitters familial cold autoinflammatory syndrome 3
  • p.His244Arg Multiple submitters familial cold autoinflammatory syndrome 3
  • p.His257= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.His257Leu Multiple submitters familial cold autoinflammatory syndrome 3
  • p.His372= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ile671Val Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ile926= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ile928= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Leu1038= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Leu1242= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Leu716= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Leu848Phe Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Lys19= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Lys557= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Lys775Arg Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Met28Leu Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Phe382= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Pro1053= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Pro522Arg Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Pro523= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Pro885= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ser1042Thr Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ser178Asn Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ser785= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Thr329= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Thr396= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Thr620Met Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Tyr753= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Val369= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Val386Met Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Val886= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Val972= Multiple submitters familial cold autoinflammatory syndrome 3

Likely benign 701

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

  • c.1072+13T>C Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1073-14G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1073-15C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1073-17C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1073-5T>C Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1073-6C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1194-16C>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1194-19C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1362+12G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1362+8C>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1557+14C>G Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1558-4C>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1558-8C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1733+11C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1733+12G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1734-16C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1734-6C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.193+7_193+13del Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1934+8T>G Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • c.1935-4G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1935-5C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2054+12G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2054+20G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2054+9G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2055-10C>A Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • c.2055-7G>A Multiple submitters familial cold autoinflammatory syndrome
  • c.2055-8_2055-7inv Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2236-15_2236-14insG Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2307+10C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2307+15C>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2308-9C>G Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2514+17G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2514+7C>G Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2582-5C>G Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2739+18C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2740-13G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2740-19G>C Multiple submitters familial cold autoinflammatory syndrome 3
  • c.3052+9C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.3053-3del Multiple submitters familial cold autoinflammatory syndrome 3
  • c.3053-8C>A Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • c.3198+17C>G Multiple submitters familial cold autoinflammatory syndrome 3
  • c.3199-16C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.3313+13C>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.3314-20G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.338-11C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.338-18del Multiple submitters familial cold autoinflammatory syndrome 3
  • c.3481+16A>G Multiple submitters familial cold autoinflammatory syndrome 3
  • c.3570+8G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.3571-10C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.3756-20T>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.432-3C>T Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • c.480-15C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.564+8T>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.565-13T>C Multiple submitters familial cold autoinflammatory syndrome 3
  • c.693-12C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.766-20G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.766-7T>C Multiple submitters familial cold autoinflammatory syndrome 3
  • c.986+11G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ala180= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ala281= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Ala543= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Arg1044= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Arg1057= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Arg448Trp Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg984= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asn1024= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Asn315= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asn639Ser Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asn744= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asn798Ser Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asp1140= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asp488= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asp666= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Asp678Asn Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Cys1005= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Cys496= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Gln1207= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Glu1176= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Glu407= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Glu412= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Glu877Asp Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Gly1170= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Gly426= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Gly479= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.His1220= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.His392= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.His416= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.His616= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.His641= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ile1112= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ile955= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ile966= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Leu1132= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Leu1216= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Leu1231= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Leu146= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Leu197= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Leu230= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Leu24= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Leu262= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Leu974= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Lys531= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Lys689= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Lys691= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Lys970= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Lys980= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Met483Ile Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Phe627= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Phe82= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Phe832= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Pro1083= Multiple submitters Inborn genetic diseases
  • p.Pro236= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Pro364= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Pro368= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Pro638= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Pro734= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Pro734Leu Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Pro737= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Pro767= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Pro844= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Pro878= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Pro971= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ser1143= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ser1164= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Ser225= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ser226= Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Ser319= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ser325= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ser404= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ser443= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ser566= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ser707= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ser768= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Thr1064= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Thr108Met Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Thr1101= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Thr1102= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Thr26= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Thr375= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Thr37Asn Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Thr4= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Thr431= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Thr49= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Thr4Met Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Thr57= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Thr773= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Tyr345= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Tyr482= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Tyr720= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Tyr811= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Tyr997= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Val690= Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Val824= Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1072+15_1072+17del Single submitter familial cold autoinflammatory syndrome 3
  • c.1072+15C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1072+20_1072+22del Single submitter familial cold autoinflammatory syndrome 3
  • c.1072+8G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1073-10C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.1073-16G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1073-4G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1073-8C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1193+18T>C Single submitter familial cold autoinflammatory syndrome 3
  • c.1194-10C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1194-15C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.1194-20C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.1194-8G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1362+11C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1362+13G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1362+15T>G Single submitter familial cold autoinflammatory syndrome 3
  • c.1362+16G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1362+17C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1362+20C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.1362+20C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1362+7A>G Single submitter familial cold autoinflammatory syndrome 3
  • c.1362+9C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1363-12T>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1363-17A>G Single submitter familial cold autoinflammatory syndrome 3
  • c.1468-11T>C Single submitter familial cold autoinflammatory syndrome 3
  • c.1468-19T>C Single submitter familial cold autoinflammatory syndrome 3
  • c.1468-5T>G Single submitter familial cold autoinflammatory syndrome 3
  • c.1468-8C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1468-9A>C Single submitter familial cold autoinflammatory syndrome 3
  • c.1557+12C>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1557+13C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1557+18C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1557+8G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1557+9A>G Single submitter
  • c.1558-12T>G Single submitter familial cold autoinflammatory syndrome 3
  • c.1558-13C>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1558-15C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1558-16T>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1733+10C>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1733+17A>G Single submitter familial cold autoinflammatory syndrome 3
  • c.1733+7C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1734-12C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.1734-13C>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1734-16C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.1734-17G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1734-19T>C Single submitter familial cold autoinflammatory syndrome 3
  • c.1734-4G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1734-5C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.193+10C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.193+11G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.193+16dup Single submitter familial cold autoinflammatory syndrome 3
  • c.193+16G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1934+12A>G Single submitter familial cold autoinflammatory syndrome 3
  • c.1934+14G>C Single submitter familial cold autoinflammatory syndrome 3
  • c.1934+14G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1934+18G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1934+20G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1934+7G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1935-11C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1935-15G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.1935-4G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.194-16G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.194-19C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.194-7A>G Single submitter familial cold autoinflammatory syndrome 3
  • c.194-8C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.194-9T>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2054+11G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2054+13G>A Single submitter
  • c.2054+15G>C Single submitter familial cold autoinflammatory syndrome 3
  • c.2054+19G>C Single submitter familial cold autoinflammatory syndrome 3
  • c.2054+20G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2054+7G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2054+8C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2055-4C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2235+10G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2235+20G>C Single submitter familial cold autoinflammatory syndrome 3
  • c.2236-10T>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2236-13T>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2236-14C>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2236-19T>C Single submitter familial cold autoinflammatory syndrome 3
  • c.2307+11G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2307+15C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2307+17C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2307+20A>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2307+8G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2308-14_2308-12del Single submitter familial cold autoinflammatory syndrome 3
  • c.2308-14G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2308-14G>C Single submitter familial cold autoinflammatory syndrome 3
  • c.2417+17G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2418-16C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2418-18T>C Single submitter
  • c.2418-19G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2418-20T>C Single submitter familial cold autoinflammatory syndrome 3
  • c.2418-4C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2418-5T>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2418-6dup Single submitter familial cold autoinflammatory syndrome 3
  • c.2418-9_2418-7del Single submitter familial cold autoinflammatory syndrome 3
  • c.2514+11C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2514+11del Single submitter familial cold autoinflammatory syndrome 3
  • c.2514+16C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2514+20C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2514+8C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2515-15C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2581+10C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2581+12C>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2581+12C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2581+8C>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2582-10T>C Single submitter familial cold autoinflammatory syndrome 3
  • c.2582-11C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2582-13C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2582-19C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2582-8del Single submitter familial cold autoinflammatory syndrome 3
  • c.2739+14C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2739+8C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2739+9C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2740-10C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2740-14T>C Single submitter familial cold autoinflammatory syndrome 3
  • c.2740-15G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2740-16A>C Single submitter familial cold autoinflammatory syndrome 3
  • c.2740-16A>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2740-19G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2740-6A>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2842+11T>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2842+12C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2842+14dup Single submitter familial cold autoinflammatory syndrome 3
  • c.2842+8C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2842+9_2842+12dup Single submitter familial cold autoinflammatory syndrome 3
  • c.2843-12C>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2843-12C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2843-5T>C Single submitter familial cold autoinflammatory syndrome 3
  • c.3052+13T>G Single submitter familial cold autoinflammatory syndrome 3
  • c.3052+14G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.3052+19T>C Single submitter familial cold autoinflammatory syndrome 3
  • c.3052+19T>G Single submitter familial cold autoinflammatory syndrome 3
  • c.3052+6G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.3052+9C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.3053-16T>C Single submitter familial cold autoinflammatory syndrome 3
  • c.3053-18G>A Single submitter
  • c.3053-18G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.3053-19C>A Single submitter familial cold autoinflammatory syndrome 3
  • c.3053-9C>A Single submitter familial cold autoinflammatory syndrome 3
  • c.3198+13C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.3198+15C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.3198+17C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.3198+6G>T Single submitter
  • c.3199-7G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.3313+13C>T Single submitter familial cold autoinflammatory syndrome 3

Uncertain significance 883

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

  • c.1193+2_1193+3insAACAGCCAAAGAAAATCAGCCAAATCAGCCAAAGAAAT Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1467+3G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.1934+1G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2235+3A>G Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2235+5G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2307+4C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.2581+5G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • c.337+2T>C Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • c.692+7C>T Multiple submitters familial cold autoinflammatory syndrome 3
  • c.693-8G>A Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Ala1130Ser Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala11Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Ala11Val Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala133Gly Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala136Thr Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Ala136Val Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala308Thr Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala436Thr Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala501Ser Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala53Thr Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala668Val Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala830Thr Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg1001Cys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg1001His Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Arg1033Cys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg1033His Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Arg1071Cys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg1133His Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg1187Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1201His Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg1205Ser Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg1206Gln Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg1252Thr Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Arg266His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg337Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg376Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg461Leu Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Arg50Trp Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg579Trp Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg582Gln Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg589His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg694Cys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg697Gln Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg732Cys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg742Cys Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Arg792Cys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg89Cys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg956Cys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg956His Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Arg956Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1097Asp Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Asn1097del Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Asn1225Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1250Lys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Asn1260Lys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Asn159His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn604His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn766His Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Asn822Thr Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Asn868Lys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Asp313Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp362Glu Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Asp365Tyr Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Asp463Asn Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Asp470Glu Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Asp520Gly Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Asp66Ala Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Asp754His Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Asp93Gly Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Cys1200Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Cys1249Trp Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Gln1117His Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Gln1241Ter Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Gln17Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln247Glu Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Gln771Arg Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Glu1195Lys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Glu469del Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Glu474Lys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Glu565Asp Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Glu593Gly Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Glu628Gln Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Glu642Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu657Asp Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Glu833Lys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Glu841Gly Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Glu887Asp Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Gly366Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly529Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly595Arg Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.His203Tyr Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.His641Asn Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.His641Gln Multiple submitters Inborn genetic diseases ⚠
  • p.His701Arg Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Ile1080Asn Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ile1175Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile251Leu Multiple submitters PLCG2-related disorder ⚠
  • p.Ile251Val Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ile509Thr Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ile509Val Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Ile73Met Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ile749Val Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Ile928Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile98Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1002Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1012Phe Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Leu1190Gln Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Leu1244Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu163Phe Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Leu170Phe Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Leu183Phe Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Leu218Ile Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Leu262Val Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Leu291Val Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Leu331Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu795Val Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Lys1168Asn Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Lys1248Gln Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Lys194Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Lys545Arg Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Lys722Asn Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Lys722Glu Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Lys728Asn Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Lys867Arg Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Lys913Glu Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Lys944Arg Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Met1043Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met1141Ile Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • p.Met1141Thr Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Met210Leu Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Met277Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met311Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met314Ile Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Met513Val Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Met68Val Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Met729Thr Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Met769Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Phe1131Leu Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Phe284Leu Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Phe286Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe832Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1050Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1127Ala Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Pro1127Arg Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Pro236Leu Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Pro433Ala Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Pro523Ala Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Pro645Leu Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Pro971Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1079Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser107Gly Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ser124Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1259Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser162Thr Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ser16Arg Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Ser198Arg Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ser319Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Ser718Gly Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ser800Cys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Ser965Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1016Met Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Thr102Ala Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Thr1101Met Multiple submitters PLCG2-related disorder ⚠
  • p.Thr138Met Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Thr26Ala Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Thr280Ser Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Thr292Met Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Thr434Met Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Thr49Met Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Thr736Ile Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Thr907Ile Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Thr961Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Trp302Cys Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Tyr1125Cys Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Tyr1153Cys Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Tyr1217Cys Multiple submitters familial cold autoinflammatory syndrome 3
  • p.Tyr206Phe Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Val1037Ile Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Val1103Ala Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Val1103Ile Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Val1182Ile Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Val227Met Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Val309Met Multiple submitters autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Val411Met Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Val43Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val45Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val537Met Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Val5Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Val714Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val717Ile Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Val755Ile Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • p.Val860Ile Multiple submitters familial cold autoinflammatory syndrome 3 ⚠
  • c.1072+4A>G Single submitter familial cold autoinflammatory syndrome 3
  • c.1193+6T>C Single submitter familial cold autoinflammatory syndrome 3
  • c.1194-1G>A Single submitter
  • c.1194-5T>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1362+4G>C Single submitter familial cold autoinflammatory syndrome 3
  • c.1362+5G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1557+5G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1558-13C>G Single submitter autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • c.1558-7G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1558-8C>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1934+4C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.1934+5G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.1935-5C>A Single submitter familial cold autoinflammatory syndrome 3
  • c.194-3T>C Single submitter familial cold autoinflammatory syndrome 3
  • c.2054_2054+1delinsAA Single submitter familial cold autoinflammatory syndrome 3
  • c.2055-8_2055-7delinsCT Single submitter familial cold autoinflammatory syndrome 3
  • c.2055-9_2055-8delinsAC Single submitter familial cold autoinflammatory syndrome 3
  • c.2055-9_2055-8delinsTC Single submitter familial cold autoinflammatory syndrome 3
  • c.2236-14_2236-13delinsGG Single submitter familial cold autoinflammatory syndrome 3
  • c.2236-19T>G Single submitter
  • c.2307+4C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2307+5G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2308-9C>A Single submitter
  • c.2417+6G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2418-3C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2418-694C>G Single submitter autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • c.2515-3C>A Single submitter familial cold autoinflammatory syndrome 3
  • c.2515-3C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2581+3A>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2581+4C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2739+4G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2739+5G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2739+6C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2739+6C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.2740-10C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2740-8C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.2842+6A>G Single submitter familial cold autoinflammatory syndrome 3
  • c.3052+6G>C Single submitter
  • c.3053-8C>T Single submitter
  • c.3199-1G>A Single submitter
  • c.3199-3C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.3313+3_3313+6dup Single submitter familial cold autoinflammatory syndrome 3
  • c.3314-3C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.337+4G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.338-4C>G Single submitter
  • c.3545_3570+7dup Single submitter familial cold autoinflammatory syndrome 3
  • c.3571-3C>G Single submitter
  • c.3571-3C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.3571-7C>A Single submitter
  • c.3755+1G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.3755+5G>C Single submitter familial cold autoinflammatory syndrome 3
  • c.3755+5G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.3756-3C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.431+5_431+14del Single submitter familial cold autoinflammatory syndrome 3
  • c.431+5_431+6insGGGTAGT Single submitter familial cold autoinflammatory syndrome 3
  • c.431+6T>C Single submitter familial cold autoinflammatory syndrome 3
  • c.432-13T>G Single submitter
  • c.432-1G>T Single submitter familial cold autoinflammatory syndrome 3
  • c.480-3C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.565-18C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.565-3C>T Single submitter familial cold autoinflammatory syndrome 3
  • c.648+3A>C Single submitter familial cold autoinflammatory syndrome 3
  • c.648+4A>T Single submitter familial cold autoinflammatory syndrome 3
  • c.648+6A>G Single submitter familial cold autoinflammatory syndrome 3
  • c.649-3C>G Single submitter
  • c.692+6G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.693-20C>G Single submitter familial cold autoinflammatory syndrome 3
  • c.765+5G>C Single submitter familial cold autoinflammatory syndrome 3
  • c.766-1G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.867+5G>A Single submitter familial cold autoinflammatory syndrome 3
  • c.*7G>T Single submitter
  • p.Ala1011Val Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala1081= Single submitter familial cold autoinflammatory syndrome 3
  • p.Ala1081Thr Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala1092Asp Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala1114Thr Single submitter PLCG2-related disorder ⚠
  • p.Ala1114Val Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala112Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala112Val Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala1130Thr Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala1178Thr Single submitter ⚠
  • p.Ala119Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1230Thr Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala1230Val Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala136= Single submitter
  • p.Ala180Val Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala21Pro Single submitter autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Ala21Ser Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala21Thr Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala21Val Single submitter autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ⚠
  • p.Ala238Val Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala259Pro Single submitter ⚠
  • p.Ala259Val Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala281Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala393Ser Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala497Thr Single submitter ⚠
  • p.Ala53Val Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala543Asp Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala58Ser Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala58Val Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala612Ser Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala776Ser Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala782Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala830Glu Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala85Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala863Asp Single submitter familial cold autoinflammatory syndrome 3 ⚠
  • p.Ala863Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala889Val Single submitter Inborn genetic diseases ⚠