CARD8 — 468 ClinVar variants

All ClinVar germline CARD8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

1 Likely pathogenic · 4 Conflicting · 25 Benign · 154 Likely benign · 284 Uncertain significance

Full CARD8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All CARD8 variants

Likely pathogenic 1

p.Gln61fs Single submitter inflammatory bowel disease 30

Conflicting classifications of pathogenicity 4

p.Ala306Thr Single submitter
p.Arg40Trp Single submitter
p.Leu101Trp Single submitter
p.Thr70= Single submitter

Benign 25

c.210-12G>C Multiple submitters
c.772+16C>T Multiple submitters
p.Ala289= Multiple submitters
p.Asp515= Multiple submitters
p.Gln462Arg Multiple submitters
p.Gln476= Multiple submitters
p.Glu204Ala Multiple submitters
p.Glu417= Multiple submitters
p.His87Pro Multiple submitters
p.Ile173Val Multiple submitters
p.Leu472= Multiple submitters
p.Leu82= Multiple submitters
p.Phe102Ile Multiple submitters
p.Pro325Arg Multiple submitters
p.Val148fs Multiple submitters
c.1035+16T>G Single submitter
c.1162-18C>T Single submitter
c.1303+14C>T Single submitter
c.1304-14del Single submitter
c.350+18G>A Single submitter
p.Gln409= Single submitter
p.Gly198Ser Single submitter
p.Gly356Arg Single submitter
p.Phe370= Single submitter
p.Pro327= Single submitter

Likely benign 154

c.350+19T>C Multiple submitters
p.Leu517Val Multiple submitters
c.1035+7T>C Single submitter
c.1035+9A>G Single submitter
c.1036-12C>G Single submitter
c.1036-13C>T Single submitter
c.1036-14C>T Single submitter
c.1036-5C>T Single submitter
c.1036-8T>C Single submitter
c.1161+19del Single submitter
c.1161+1G>T Single submitter
c.1162-11G>A Single submitter
c.1162-13G>A Single submitter
c.1162-19A>G Single submitter
c.1162-4C>T Single submitter
c.1303+15G>A Single submitter
c.1303+16A>C Single submitter
c.1304-11C>T Single submitter
c.1304-14dup Single submitter
c.1304-19A>T Single submitter
c.1304-5T>C Single submitter
c.1304-9C>T Single submitter
c.1348+17C>T Single submitter
c.1348+18A>C Single submitter
c.1348+9A>G Single submitter
c.1349-6A>G Single submitter
c.1349-9T>C Single submitter
c.210-11T>C Single submitter
c.210-12G>T Single submitter
c.210-17C>G Single submitter
c.350+17C>T Single submitter
c.350+7A>G Single submitter
c.351-10C>T Single submitter
c.351-15G>A Single submitter
c.351-19T>C Single submitter
c.351-20A>G Single submitter
c.351-3_351-2insACCTCCCATGATAC Single submitter
c.391+11A>G Single submitter
c.391+15G>A Single submitter
c.391+9C>A Single submitter
c.392-18C>G Single submitter
c.542+15T>A Single submitter
c.542+15T>C Single submitter
c.542+15T>G Single submitter
c.542+16G>A Single submitter
c.542+8T>C Single submitter
c.543-16C>T Single submitter
c.543-18C>T Single submitter
c.59+11_59+12del Single submitter
c.59+14C>T Single submitter
c.59+15G>A Single submitter
c.59+20G>A Single submitter
c.59+20G>T Single submitter
c.772+10G>A Single submitter
c.772+17G>A Single submitter
c.772+8G>A Single submitter
c.772+8G>T Single submitter
c.773-10del Single submitter
c.773-15G>C Single submitter
c.773-18G>A Single submitter
c.773-20C>T Single submitter
c.773-7C>T Single submitter
p.Ala210= Single submitter
p.Ala246= Single submitter
p.Ala306= Single submitter
p.Ala346= Single submitter
p.Arg283= Single submitter
p.Arg353= Single submitter
p.Asn167= Single submitter
p.Asn381= Single submitter
p.Asp132= Single submitter
p.Asp221= Single submitter
p.Asp262= Single submitter
p.Asp429= Single submitter
p.Asp84= Single submitter
p.Gln109= Single submitter
p.Glu120= Single submitter
p.Glu121= Single submitter
p.Glu171= Single submitter
p.Glu240= Single submitter
p.Glu388Asp Single submitter
p.Glu487= Single submitter
p.Glu492= Single submitter
p.Gly112= Single submitter
p.Gly113= Single submitter
p.Gly166= Single submitter
p.Gly231= Single submitter
p.Gly300= Single submitter
p.Gly424= Single submitter
p.Gly470= Single submitter
p.His217= Single submitter
p.His280= Single submitter
p.His326= Single submitter
p.His458= Single submitter
p.Ile152= Single submitter
p.Ile301= Single submitter
p.Ile305= Single submitter
p.Leu100= Single submitter
p.Leu110= Single submitter
p.Leu162= Single submitter
p.Leu17= Single submitter
p.Leu197= Single submitter
p.Leu218= Single submitter
p.Leu267= Single submitter
p.Leu298= Single submitter
p.Leu303= Single submitter
p.Leu311= Single submitter
p.Leu343= Single submitter
p.Leu359= Single submitter
p.Leu368= Single submitter
p.Leu391= Single submitter
p.Leu468= Single submitter
p.Leu488= Single submitter
p.Leu514= Single submitter
p.Leu528= Single submitter
p.Leu75= Single submitter
p.Phe199= Single submitter
p.Phe211Cys Single submitter inflammatory bowel disease 30
p.Phe453= Single submitter
p.Pro106= Single submitter
p.Pro18= Single submitter
p.Pro18Leu Single submitter
p.Pro241= Single submitter
p.Pro325= Single submitter
p.Pro386Leu Single submitter
p.Pro396= Single submitter
p.Pro413= Single submitter
p.Ser111= Single submitter
p.Ser12= Single submitter
p.Ser142= Single submitter
p.Ser264= Single submitter
p.Ser293= Single submitter
p.Ser339= Single submitter
p.Ser339Gly Single submitter inflammatory bowel disease 30
p.Ser362= Single submitter
p.Thr177= Single submitter
p.Thr208= Single submitter
p.Thr208Met Single submitter
p.Thr319= Single submitter
p.Thr430= Single submitter
p.Thr482= Single submitter
p.Tyr144= Single submitter
p.Tyr156= Single submitter
p.Tyr374= Single submitter
p.Val118= Single submitter
p.Val182Phe Single submitter
p.Val207= Single submitter
p.Val237= Single submitter
p.Val245= Single submitter
p.Val277= Single submitter
p.Val284Met Single submitter
p.Val337= Single submitter
p.Val376= Single submitter
p.Val71= Single submitter

Uncertain significance 284

c.1035+5G>A Multiple submitters
p.Ala442Pro Multiple submitters
p.Ala97Val Multiple submitters
p.Arg103His Multiple submitters
p.Arg20Trp Multiple submitters
p.Arg304Gln Multiple submitters
p.Arg310Cys Multiple submitters
p.Arg353Cys Multiple submitters
p.Arg459Gln Multiple submitters
p.Arg459Trp Multiple submitters
p.Arg495Gln Multiple submitters
p.Asn138Lys Multiple submitters
p.Asn178Lys Multiple submitters
p.Asp340Asn Multiple submitters
p.Cys6Tyr Multiple submitters
p.Gln128Arg Multiple submitters
p.Gln227Arg Multiple submitters
p.Gln257Arg Multiple submitters
p.Glu247Lys Multiple submitters
p.Glu285Ter Multiple submitters inflammatory bowel disease 30
p.Glu490Lys Multiple submitters
p.Gly131Glu Multiple submitters
p.His252Arg Multiple submitters
p.His252Asn Multiple submitters
p.His280Tyr Multiple submitters
p.His324Tyr Multiple submitters CARD8-related disorder
p.Ile248Ser Multiple submitters
p.Leu514Val Multiple submitters
p.Met276Leu Multiple submitters
p.Met365Arg Multiple submitters
p.Phe354Leu Multiple submitters
p.Pro164Arg Multiple submitters
p.Pro325Thr Multiple submitters
p.Ser181Asn Multiple submitters inflammatory bowel disease 30
p.Thr238Ser Multiple submitters
p.Tyr288Cys Multiple submitters CARD8-related disorder
p.Tyr406Cys Multiple submitters
p.Val118Leu Multiple submitters CARD8-related disorder
p.Val170Ala Multiple submitters
p.Val268Ile Multiple submitters
p.Val337Phe Multiple submitters
p.Val357Leu Multiple submitters
p.Val506Met Multiple submitters
p.Val516Met Multiple submitters
p.Val529Met Multiple submitters
c.1036-10_1036-9delinsGT Single submitter
c.1161+5G>A Single submitter
c.1162-2A>G Single submitter
c.1303+2T>G Single submitter
c.1304-3T>A Single submitter
c.1348+2dup Single submitter
c.1349-2A>G Single submitter
c.1349-3C>T Single submitter
c.350+1G>A Single submitter
c.391+1G>C Single submitter
c.391+5T>C Single submitter
c.542+3A>C Single submitter
c.543-12G>A Single submitter
c.543-9T>A Single submitter
c.772+1G>A Single submitter
c.772+5T>C Single submitter
c.773-3C>T Single submitter
c.773-4_773-3insGGAGGCTGTGGGGGCCGCTGGGGTGCGTGCCGTCTCACTGCTGTTGTGGTTCTCCTGGTGGCTGGGGACAGCAGCAGGGCCTAGGAAGGATGCACGCTCTTTCGCCTCTGCATCTTTGGAGTTCGATACTTTTCTGACCTGGACTTTCCTCACCAGCAGAAAGTGTCTTCTGCTATTTCGGACCAGTAGAAATGTAGGTGCATT Single submitter
p.Ala145Asp Single submitter
p.Ala145Val Single submitter
p.Ala187Thr Single submitter
p.Ala194Val Single submitter
p.Ala210Thr Single submitter
p.Ala244fs Single submitter
p.Ala246Val Single submitter
p.Ala306Gly Single submitter
p.Ala341Thr Single submitter
p.Ala346Val Single submitter
p.Ala501Asp Single submitter
p.Arg103Cys Single submitter
p.Arg103Leu Single submitter
p.Arg159His Single submitter
p.Arg159Ser Single submitter
p.Arg179= Single submitter
p.Arg20Gln Single submitter
p.Arg283Gln Single submitter
p.Arg283Trp Single submitter
p.Arg304Trp Single submitter
p.Arg310His Single submitter
p.Arg353Gly Single submitter
p.Arg353His Single submitter
p.Arg353Leu Single submitter
p.Arg353Pro Single submitter
p.Arg358Cys Single submitter
p.Arg358His Single submitter
p.Arg40Gln Single submitter
p.Arg464Met Single submitter
p.Arg495Trp Single submitter
p.Arg49Trp Single submitter
p.Arg519Ile Single submitter
p.Asn138Tyr Single submitter
p.Asn158Ser Single submitter
p.Asn318Ser Single submitter
p.Asn499Ser Single submitter
p.Asp114fs Single submitter
p.Asp114Glu Single submitter
p.Asp169Asn Single submitter
p.Asp21Gly Single submitter
p.Asp236Tyr Single submitter
p.Asp329Val Single submitter
p.Asp349del Single submitter
p.Asp349Glu Single submitter
p.Asp473Asn Single submitter
p.Asp477Glu Single submitter
p.Asp511fs Single submitter
p.Asp515Glu Single submitter
p.Asp92Ala Single submitter
p.Asp92fs Single submitter
p.Asp92Gly Single submitter inflammatory bowel disease 30
p.Asp93del Single submitter
p.Cys149Ter Single submitter
p.Cys77Ser Single submitter
p.Cys83Tyr Single submitter
p.Gln128Ter Single submitter
p.Gln139Ter Single submitter
p.Gln160Arg Single submitter
p.Gln160His Single submitter
p.Gln223Arg Single submitter
p.Gln227Glu Single submitter
p.Gln227His Single submitter
p.Gln409Leu Single submitter
p.Gln415His Single submitter
p.Gln90fs Single submitter
p.Glu123Gly Single submitter
p.Glu14fs Single submitter
p.Glu153Gln Single submitter
p.Glu153Lys Single submitter
p.Glu154Gly Single submitter
p.Glu226Gln Single submitter
p.Glu243Lys Single submitter
p.Glu292Gln Single submitter
p.Glu328Lys Single submitter
p.Glu350Lys Single submitter
p.Glu412Asp Single submitter
p.Glu431Lys Single submitter
p.Glu456Asp Single submitter
p.Glu456Gly Single submitter
p.Glu483Asp Single submitter
p.Glu487Leu Single submitter
p.Glu492Ter Single submitter
p.Glu50Asp Single submitter
p.Glu5fs Single submitter
p.Glu74Lys Single submitter
p.Glu8Asp Single submitter
p.Glu91Asp Single submitter
p.Glu91Lys Single submitter
p.Glu94Asp Single submitter
p.Glu96fs Single submitter
p.Gly112Ala Single submitter
p.Gly112Arg Single submitter
p.Gly112Trp Single submitter
p.Gly127Arg Single submitter
p.Gly131Arg Single submitter
p.Gly163Arg Single submitter
p.Gly166Ala Single submitter
p.Gly232Ser Single submitter
p.Gly23Arg Single submitter
p.Gly300Val Single submitter
p.Gly424Arg Single submitter
p.Gly450Val Single submitter
p.Gly510Arg Single submitter
p.His249fs Single submitter
p.His249Tyr Single submitter
p.His252Asp Single submitter
p.His252Tyr Single submitter
p.His333Arg Single submitter
p.Ile115Val Single submitter
p.Ile152Met Single submitter
p.Ile209Val Single submitter
p.Ile254Met Single submitter
p.Ile254Val Single submitter
p.Ile28Thr Single submitter
p.Ile305Met Single submitter
p.Ile305Phe Single submitter
p.Ile330Thr Single submitter
p.Ile347Thr Single submitter
p.Leu162Pro Single submitter
p.Leu197Pro Single submitter
p.Leu200Pro Single submitter
p.Leu220Val Single submitter
p.Leu222Pro Single submitter
p.Leu234Ser Single submitter
p.Leu250Phe Single submitter
p.Leu256Phe Single submitter
p.Leu256Pro Single submitter
p.Leu267Phe Single submitter
p.Leu311Pro Single submitter
p.Leu334fs Single submitter
p.Leu334Phe Single submitter
p.Leu36Pro Single submitter
p.Leu382_Lys383insTer Single submitter
p.Leu426Met Single submitter
p.Leu475Phe Single submitter
p.Leu502Val Single submitter
p.Leu514Pro Single submitter
p.Lys147Glu Single submitter
p.Lys175Glu Single submitter
p.Lys272Arg Single submitter
p.Lys383= Single submitter
p.Lys387Arg Single submitter
p.Lys387Asn Single submitter
p.Lys390Arg Single submitter
p.Lys3Arg Single submitter
p.Lys421Arg Single submitter
p.Lys486Glu Single submitter
p.Lys498Arg Single submitter
p.Met1Ile Single submitter
p.Met1Thr Single submitter
p.Met299Ile Single submitter
p.Met365Val Single submitter
p.Phe150Leu Single submitter
p.Phe199Leu Single submitter
p.Phe235Ser Single submitter
p.Phe266Cys Single submitter
p.Phe287Leu Single submitter
p.Phe88Val Single submitter
p.Pro164Ser Single submitter
p.Pro286Thr Single submitter
p.Pro325Ala Single submitter
p.Pro325Leu Single submitter
p.Pro367Thr Single submitter
p.Pro445Leu Single submitter
p.Ser10Arg Single submitter
p.Ser12Gly Single submitter
p.Ser130fs Single submitter
p.Ser135Pro Single submitter
p.Ser181= Single submitter
p.Ser293Asn Single submitter
p.Ser293Ile Single submitter
p.Ser297Cys Single submitter
p.Ser317Ala Single submitter
p.Ser339Arg Single submitter
p.Ser362Leu Single submitter
p.Ser373fs Single submitter
p.Ser403Ala Single submitter inflammatory bowel disease 30
p.Ser403Thr Single submitter
p.Ser449Leu Single submitter
p.Ser47Gly Single submitter inflammatory bowel disease 30
p.Ser504Asn Single submitter
p.Ser504Gly Single submitter
p.Ser86Ala Single submitter
p.Thr195Ile Single submitter
p.Thr419Asn Single submitter
p.Thr425Ser Single submitter
p.Thr430Ala Single submitter
p.Thr482fs Single submitter
p.Thr494_Lys498del Single submitter
p.Thr54Ala Single submitter
p.Thr81Ile Single submitter
p.Thr95Ile Single submitter
p.Trp183Cys Single submitter
p.Trp192Cys Single submitter
p.Trp192fs Single submitter
p.Trp228Arg Single submitter
p.Trp428Ter Single submitter
p.Tyr156fs Single submitter
p.Tyr180fs Single submitter
p.Tyr288Ser Single submitter
p.Tyr322Cys Single submitter
p.Tyr322fs Single submitter
p.Tyr531Cys Single submitter
p.Tyr72Cys Single submitter
p.Tyr72Ter Single submitter
p.Val168Leu Single submitter
p.Val182Ile Single submitter
p.Val207Met Single submitter
p.Val230Met Single submitter
p.Val263Ile Single submitter
p.Val268Phe Single submitter
p.Val284Glu Single submitter
p.Val284Leu Single submitter
p.Val290Ala Single submitter
p.Val337Ile Single submitter
p.Val440Ile Single submitter
p.Val44Ile Single submitter inflammatory bowel disease 30
p.Val454Met Single submitter
p.Val480Leu Single submitter
p.Val78Ile Single submitter
c.350+565_350+569del No assertion criteria CARD8-related disorder