EFCAB5 — 227 ClinVar variants
All ClinVar germline EFCAB5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 170 flagged for review →
10 Benign · 40 Likely benign · 177 Uncertain significance
Full EFCAB5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 170
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 lean, ClinVar uncertain 150
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFCAB5 p.Ala128Thr Uncertain significance Single submitter
- EFCAB5 p.Ala1493Val Uncertain significance Single submitter
- EFCAB5 p.Ala514Thr Uncertain significance Single submitter
- EFCAB5 p.Ala5Pro Uncertain significance Single submitter
- EFCAB5 p.Arg1158Gln Uncertain significance Single submitter
- EFCAB5 p.Arg1329Gln Uncertain significance Single submitter
- EFCAB5 p.Arg1444Gln Uncertain significance Single submitter
- EFCAB5 p.Arg236Lys Uncertain significance Single submitter
- EFCAB5 p.Arg285Gln Uncertain significance Single submitter
- EFCAB5 p.Arg560Lys Uncertain significance Single submitter
- EFCAB5 p.Arg589Cys Uncertain significance Single submitter
- EFCAB5 p.Arg618Gln Uncertain significance Single submitter
- EFCAB5 p.Arg629Leu Uncertain significance Single submitter
- EFCAB5 p.Arg701Ser Uncertain significance Single submitter
- EFCAB5 p.Arg979Trp Uncertain significance Single submitter
- EFCAB5 p.Asn1273Lys Uncertain significance Single submitter
- EFCAB5 p.Asn1375Lys Uncertain significance Single submitter
- EFCAB5 p.Asn1375Ser Uncertain significance Single submitter
- EFCAB5 p.Asn1489Lys Uncertain significance Single submitter
- EFCAB5 p.Asn155Ser Uncertain significance Single submitter
- EFCAB5 p.Asn221His Uncertain significance Single submitter
- EFCAB5 p.Asn815Ser Uncertain significance Single submitter
- EFCAB5 p.Asn88Lys Uncertain significance Single submitter
- EFCAB5 p.Asn963Ser Uncertain significance Single submitter
- EFCAB5 p.Asp102Gly Uncertain significance Single submitter
- EFCAB5 p.Asp154Glu Uncertain significance Single submitter
- EFCAB5 p.Asp176Glu Uncertain significance Single submitter
- EFCAB5 p.Asp203Asn Uncertain significance Single submitter
- EFCAB5 p.Asp228Glu Uncertain significance Single submitter
- EFCAB5 p.Asp462Glu Uncertain significance Single submitter
- EFCAB5 p.Asp489Val Uncertain significance Single submitter
- EFCAB5 p.Asp728Tyr Uncertain significance Single submitter
- EFCAB5 p.Cys1225Gly Uncertain significance Single submitter
- EFCAB5 p.Gln1474Pro Uncertain significance Single submitter
- EFCAB5 p.Gln287Glu Uncertain significance Single submitter
- EFCAB5 p.Gln290Arg Uncertain significance Single submitter
- EFCAB5 p.Gln508Arg Uncertain significance Single submitter
- EFCAB5 p.Gln527Pro Uncertain significance Single submitter
- EFCAB5 p.Gln566Arg Uncertain significance Single submitter
- EFCAB5 p.Gln576Glu Uncertain significance Single submitter
- EFCAB5 p.Gln616Pro Uncertain significance Single submitter
- EFCAB5 p.Glu103Asp Uncertain significance Single submitter
- EFCAB5 p.Glu1257Asp Uncertain significance Single submitter
- EFCAB5 p.Glu1305Asp Uncertain significance Single submitter
- EFCAB5 p.Glu137Lys Uncertain significance Single submitter
- EFCAB5 p.Glu1395Gly Uncertain significance Single submitter
- EFCAB5 p.Glu1502Lys Uncertain significance Single submitter
- EFCAB5 p.Glu159Gln Uncertain significance Single submitter
- EFCAB5 p.Glu243Lys Uncertain significance Single submitter
- EFCAB5 p.Glu495Lys Uncertain significance Single submitter
- EFCAB5 p.Glu507Lys Uncertain significance Single submitter
- EFCAB5 p.Glu709Lys Uncertain significance Single submitter
- EFCAB5 p.Glu837Lys Uncertain significance Single submitter
- EFCAB5 p.Glu940Ala Uncertain significance Single submitter
- EFCAB5 p.Gly1073Glu Uncertain significance Single submitter
- EFCAB5 p.Gly1170Asp Uncertain significance Single submitter
- EFCAB5 p.Gly1497Arg Uncertain significance Single submitter
- EFCAB5 p.Gly460Ser Uncertain significance Single submitter
- EFCAB5 p.Gly621Arg Uncertain significance Single submitter
- EFCAB5 p.Gly76Ala Uncertain significance Single submitter
- EFCAB5 p.Gly904Arg Uncertain significance Single submitter
- EFCAB5 p.His1128Tyr Uncertain significance Single submitter
- EFCAB5 p.His1163Tyr Uncertain significance Single submitter
- EFCAB5 p.His395Arg Uncertain significance Single submitter
- EFCAB5 p.His791Tyr Uncertain significance Single submitter
- EFCAB5 p.His923Gln Uncertain significance Single submitter
- EFCAB5 p.His983Gln Uncertain significance Single submitter
- EFCAB5 p.Ile1182Phe Uncertain significance Single submitter
- EFCAB5 p.Ile1226Val Uncertain significance Single submitter
- EFCAB5 p.Ile1311Thr Uncertain significance Single submitter
- EFCAB5 p.Ile1314Thr Uncertain significance Single submitter
- EFCAB5 p.Ile1330Asn Uncertain significance Single submitter
- EFCAB5 p.Ile1462Thr Uncertain significance Single submitter
- EFCAB5 p.Ile247Met Uncertain significance Single submitter
- EFCAB5 p.Ile274Met Uncertain significance Single submitter
- EFCAB5 p.Ile274Thr Uncertain significance Single submitter
- EFCAB5 p.Ile350Val Uncertain significance Single submitter
- EFCAB5 p.Ile523Val Uncertain significance Single submitter
- EFCAB5 p.Ile583Lys Uncertain significance Single submitter
- EFCAB5 p.Ile60Val Uncertain significance Single submitter
- EFCAB5 p.Ile613Val Uncertain significance Single submitter
- EFCAB5 p.Ile659Arg Uncertain significance Single submitter
- EFCAB5 p.Ile693Val Uncertain significance Single submitter
- EFCAB5 p.Leu118Phe Uncertain significance Single submitter
- EFCAB5 p.Leu1208Pro Uncertain significance Single submitter
- EFCAB5 p.Leu168Gln Uncertain significance Single submitter
- EFCAB5 p.Leu369Ile Uncertain significance Single submitter
- EFCAB5 p.Leu392Ile Uncertain significance Single submitter
- EFCAB5 p.Leu465Arg Uncertain significance Single submitter
- EFCAB5 p.Leu930Phe Uncertain significance Single submitter
- EFCAB5 p.Lys1449Ile Uncertain significance Single submitter
- EFCAB5 p.Lys1473Arg Uncertain significance Single submitter
- EFCAB5 p.Lys1486Glu Uncertain significance Single submitter
- EFCAB5 p.Lys261Glu Uncertain significance Single submitter
- EFCAB5 p.Lys276Thr Uncertain significance Single submitter
- EFCAB5 p.Lys530Gln Uncertain significance Single submitter
- EFCAB5 p.Lys650Ile Uncertain significance Single submitter
- EFCAB5 p.Lys680Arg Uncertain significance Single submitter
- EFCAB5 p.Lys880Asn Uncertain significance Single submitter
- EFCAB5 p.Lys880Met Uncertain significance Single submitter
- EFCAB5 p.Met1113Arg Uncertain significance Single submitter
- EFCAB5 p.Met1113Ile Uncertain significance Single submitter
- EFCAB5 p.Met1491Lys Uncertain significance Single submitter
- EFCAB5 p.Met468Thr Uncertain significance Single submitter
- EFCAB5 p.Met767Leu Uncertain significance Single submitter
- EFCAB5 p.Phe119Ser Uncertain significance Single submitter
- EFCAB5 p.Phe1232Cys Uncertain significance Single submitter
- EFCAB5 p.Phe712Ser Uncertain significance Single submitter
- EFCAB5 p.Pro110Gln Uncertain significance Single submitter
- EFCAB5 p.Pro152Thr Uncertain significance Single submitter
- EFCAB5 p.Pro75Leu Uncertain significance Single submitter
- EFCAB5 p.Pro998Leu Uncertain significance Single submitter
- EFCAB5 p.Ser1001Asn Uncertain significance Single submitter
- EFCAB5 p.Ser1024Ala Uncertain significance Single submitter
- EFCAB5 p.Ser1157Thr Uncertain significance Single submitter
- EFCAB5 p.Ser1244Phe Uncertain significance Single submitter
- EFCAB5 p.Ser1485Pro Uncertain significance Single submitter
- EFCAB5 p.Ser206Ile Uncertain significance Single submitter
- EFCAB5 p.Ser499Leu Uncertain significance Single submitter
- EFCAB5 p.Ser499Pro Uncertain significance Single submitter
- EFCAB5 p.Ser552Ala Uncertain significance Single submitter
- EFCAB5 p.Ser582Pro Uncertain significance Single submitter
- EFCAB5 p.Ser702Phe Uncertain significance Single submitter
- EFCAB5 p.Ser725Asn Uncertain significance Single submitter
- EFCAB5 p.Ser956Arg Uncertain significance Single submitter
- EFCAB5 p.Thr1176Ile Uncertain significance Single submitter
- EFCAB5 p.Thr163Ile Uncertain significance Single submitter
- EFCAB5 p.Thr181Ser Uncertain significance Single submitter
- EFCAB5 p.Thr200Ala Uncertain significance Single submitter
- EFCAB5 p.Thr204Ser Uncertain significance Single submitter
- EFCAB5 p.Thr28Ser Uncertain significance Single submitter
- EFCAB5 p.Thr548Ile Uncertain significance Single submitter
- EFCAB5 p.Thr682Ile Uncertain significance Single submitter
- EFCAB5 p.Thr723Ala Uncertain significance Single submitter
- EFCAB5 p.Thr733Ile Uncertain significance Single submitter
- EFCAB5 p.Thr83Ser Uncertain significance Single submitter
- EFCAB5 p.Trp1403Arg Uncertain significance Single submitter
- EFCAB5 p.Tyr1059His Uncertain significance Single submitter
- EFCAB5 p.Tyr1173Cys Uncertain significance Single submitter
- EFCAB5 p.Tyr1310Cys Uncertain significance Single submitter
- EFCAB5 p.Tyr1438Cys Uncertain significance Single submitter
- EFCAB5 p.Tyr847Phe Uncertain significance Single submitter
- EFCAB5 p.Val1053Leu Uncertain significance Single submitter
- EFCAB5 p.Val1155Ile Uncertain significance Single submitter
- EFCAB5 p.Val1376Leu Uncertain significance Single submitter
- EFCAB5 p.Val401Ala Uncertain significance Single submitter
- EFCAB5 p.Val401Gly Uncertain significance Single submitter
- EFCAB5 p.Val401Ile Uncertain significance Single submitter
- EFCAB5 p.Val43Ile Uncertain significance Single submitter
- EFCAB5 p.Val812Ile Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- EFCAB5 p.Ala373Val Uncertain significance Single submitter
- EFCAB5 p.Arg385Gln Likely benign Single submitter
- EFCAB5 p.Arg406Trp Uncertain significance Single submitter
- EFCAB5 p.Arg425Ser Uncertain significance Single submitter
- EFCAB5 p.Arg629Cys Uncertain significance Single submitter
- EFCAB5 p.Asn430Thr Uncertain significance Single submitter
- EFCAB5 p.Cys1406Arg Uncertain significance Single submitter
- EFCAB5 p.Gln270Pro Uncertain significance Single submitter
- EFCAB5 p.Gly1264Glu Uncertain significance Single submitter
- EFCAB5 p.Gly621Trp Uncertain significance Single submitter
- EFCAB5 p.Gly993Arg Uncertain significance Single submitter
- EFCAB5 p.His1014Arg Uncertain significance Single submitter
- EFCAB5 p.His1014Gln Uncertain significance Single submitter
- EFCAB5 p.His368Gln Uncertain significance Single submitter
- EFCAB5 p.Met238Thr Uncertain significance Single submitter
- EFCAB5 p.Met910Thr Uncertain significance Single submitter
- EFCAB5 p.Phe1133Leu Uncertain significance Single submitter
- EFCAB5 p.Phe1389Leu Uncertain significance Single submitter
- EFCAB5 p.Trp1448Cys Uncertain significance Single submitter
- EFCAB5 p.Trp1461Cys Uncertain significance Single submitter
All EFCAB5 variants
Benign 10
- p.Arg561Ser No assertion criteria EFCAB5-related disorder
- p.Cys800Phe No assertion criteria EFCAB5-related disorder
- p.Gln481Glu No assertion criteria EFCAB5-related disorder
- p.Gly1101= No assertion criteria EFCAB5-related disorder
- p.Gly1271Ser No assertion criteria EFCAB5-related disorder
- p.His926= No assertion criteria EFCAB5-related disorder
- p.Leu424Arg No assertion criteria EFCAB5-related disorder
- p.Pro184His No assertion criteria EFCAB5-related disorder
- p.Pro184Thr No assertion criteria EFCAB5-related disorder
- p.Ser671= No assertion criteria EFCAB5-related disorder
Likely benign 40
- c.42+1G>A Single submitter
- p.Ala1385= Single submitter
- p.Ala831Thr Single submitter
- p.Arg1380His Single submitter
- p.Arg385Gln Single submitter ⚠
- p.Arg429Gln Single submitter
- p.Asp294Asn Single submitter
- p.Gln1092His Single submitter
- p.Gln527Glu Single submitter
- p.Glu1373Lys Single submitter
- p.Glu699= Single submitter
- p.Glu720Lys Single submitter
- p.Glu845Lys Single submitter
- p.Gly1478Ser Single submitter
- p.His1128= Single submitter
- p.His1128Gln Single submitter
- p.His983= Single submitter
- p.Ile523Thr Single submitter
- p.Ile544Thr Single submitter
- p.Ile693Thr Single submitter
- p.Leu168= Single submitter
- p.Lys1307Glu Single submitter
- p.Pro44Ser Single submitter
- p.Ser307Thr Single submitter
- p.Val1175Ile Single submitter
- p.Val591= Single submitter
- c.2365+5A>G No assertion criteria EFCAB5-related disorder
- c.2738-5079G>A No assertion criteria EFCAB5-related disorder
- c.3198-8T>C No assertion criteria EFCAB5-related disorder
- p.Ala1120Ser No assertion criteria EFCAB5-related disorder
- p.Glu64Gly No assertion criteria EFCAB5-related disorder
- p.Leu1054Pro No assertion criteria EFCAB5-related disorder
- p.Pro532Thr No assertion criteria EFCAB5-related disorder
- p.Thr1003= No assertion criteria EFCAB5-related disorder
- p.Thr1176Ala No assertion criteria EFCAB5-related disorder
- p.Thr1180= No assertion criteria EFCAB5-related disorder
- p.Trp296Ter No assertion criteria EFCAB5-related disorder
- p.Tyr458= No assertion criteria EFCAB5-related disorder
- p.Val1252Ala No assertion criteria EFCAB5-related disorder
- p.Val1454del No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 177
- p.Ala1262Pro Single submitter
- p.Ala128Thr Single submitter ⚠
- p.Ala1493Val Single submitter ⚠
- p.Ala373Val Single submitter ⚠
- p.Ala514Thr Single submitter ⚠
- p.Ala5Pro Single submitter ⚠
- p.Arg1158Gln Single submitter ⚠
- p.Arg1329Gln Single submitter ⚠
- p.Arg1444Gln Single submitter ⚠
- p.Arg236Lys Single submitter ⚠
- p.Arg285Gln Single submitter ⚠
- p.Arg406Gln Single submitter
- p.Arg406Trp Single submitter ⚠
- p.Arg425Ser Single submitter ⚠
- p.Arg560Lys Single submitter ⚠
- p.Arg589Cys Single submitter ⚠
- p.Arg618Gln Single submitter ⚠
- p.Arg629Cys Single submitter ⚠
- p.Arg629Leu Single submitter ⚠
- p.Arg701Ser Single submitter ⚠
- p.Arg979Trp Single submitter ⚠
- p.Asn1273Lys Single submitter ⚠
- p.Asn1375Lys Single submitter ⚠
- p.Asn1375Ser Single submitter ⚠
- p.Asn1489Lys Single submitter ⚠
- p.Asn155Ser Single submitter ⚠
- p.Asn221His Single submitter ⚠
- p.Asn222Asp Single submitter
- p.Asn430Thr Single submitter ⚠
- p.Asn815Ser Single submitter ⚠
- p.Asn88Lys Single submitter ⚠
- p.Asn963Ser Single submitter ⚠
- p.Asp102Gly Single submitter ⚠
- p.Asp154Glu Single submitter ⚠
- p.Asp154Tyr Single submitter
- p.Asp176Glu Single submitter ⚠
- p.Asp203Asn Single submitter ⚠
- p.Asp228Glu Single submitter ⚠
- p.Asp462Glu Single submitter ⚠
- p.Asp489Val Single submitter ⚠
- p.Asp728Tyr Single submitter ⚠
- p.Cys1225Gly Single submitter ⚠
- p.Cys1406Arg Single submitter ⚠
- p.Cys396Gly Single submitter
- p.Gln1474Pro Single submitter ⚠
- p.Gln270Pro Single submitter ⚠
- p.Gln287Glu Single submitter ⚠
- p.Gln290Arg Single submitter ⚠
- p.Gln508Arg Single submitter ⚠
- p.Gln527Pro Single submitter ⚠
- p.Gln566Arg Single submitter ⚠
- p.Gln576Glu Single submitter ⚠
- p.Gln616Pro Single submitter ⚠
- p.Glu103Asp Single submitter ⚠
- p.Glu1257Asp Single submitter ⚠
- p.Glu1305Asp Single submitter ⚠
- p.Glu137Lys Single submitter ⚠
- p.Glu1395Gly Single submitter ⚠
- p.Glu1502Lys Single submitter ⚠
- p.Glu159Gln Single submitter ⚠
- p.Glu243Lys Single submitter ⚠
- p.Glu495Lys Single submitter ⚠
- p.Glu507Lys Single submitter ⚠
- p.Glu709Lys Single submitter ⚠
- p.Glu837Lys Single submitter ⚠
- p.Glu940Ala Single submitter ⚠
- p.Gly1073Ala Single submitter
- p.Gly1073Glu Single submitter ⚠
- p.Gly1170Asp Single submitter ⚠
- p.Gly1264Glu Single submitter ⚠
- p.Gly1497Arg Single submitter ⚠
- p.Gly460Ser Single submitter ⚠
- p.Gly621Arg Single submitter ⚠
- p.Gly621Trp Single submitter ⚠
- p.Gly76Ala Single submitter ⚠
- p.Gly904Arg Single submitter ⚠
- p.Gly993Arg Single submitter ⚠
- p.His1014Arg Single submitter ⚠
- p.His1014Gln Single submitter ⚠
- p.His1128Tyr Single submitter ⚠
- p.His1136Arg Single submitter
- p.His1163Tyr Single submitter ⚠
- p.His368Gln Single submitter ⚠
- p.His395Arg Single submitter ⚠
- p.His791Tyr Single submitter ⚠
- p.His923Gln Single submitter ⚠
- p.His983Gln Single submitter ⚠
- p.Ile1182Phe Single submitter ⚠
- p.Ile1226Val Single submitter ⚠
- p.Ile1311Thr Single submitter ⚠
- p.Ile1314Thr Single submitter ⚠
- p.Ile1330Asn Single submitter ⚠
- p.Ile1462Thr Single submitter ⚠
- p.Ile247Met Single submitter ⚠
- p.Ile274Met Single submitter ⚠
- p.Ile274Thr Single submitter ⚠
- p.Ile350Val Single submitter ⚠
- p.Ile523Val Single submitter ⚠
- p.Ile583Lys Single submitter ⚠
- p.Ile60Val Single submitter ⚠
- p.Ile613Val Single submitter ⚠
- p.Ile659Arg Single submitter ⚠
- p.Ile693Val Single submitter ⚠
- p.Leu118Phe Single submitter ⚠
- p.Leu1208Pro Single submitter ⚠
- p.Leu168Gln Single submitter ⚠
- p.Leu369Ile Single submitter ⚠
- p.Leu392Ile Single submitter ⚠
- p.Leu465Arg Single submitter ⚠
- p.Leu930Phe Single submitter ⚠
- p.Lys1449Ile Single submitter ⚠
- p.Lys1473Arg Single submitter ⚠
- p.Lys1486Glu Single submitter ⚠
- p.Lys261Glu Single submitter ⚠
- p.Lys276Thr Single submitter ⚠
- p.Lys530Gln Single submitter ⚠
- p.Lys650Ile Single submitter ⚠
- p.Lys680Arg Single submitter ⚠
- p.Lys880Asn Single submitter ⚠
- p.Lys880Met Single submitter ⚠
- p.Met1062Val Single submitter
- p.Met1113Arg Single submitter ⚠
- p.Met1113Ile Single submitter ⚠
- p.Met1491Lys Single submitter ⚠
- p.Met238Thr Single submitter ⚠
- p.Met468Thr Single submitter ⚠
- p.Met767Leu Single submitter ⚠
- p.Met910Thr Single submitter ⚠
- p.Phe1133Leu Single submitter ⚠
- p.Phe119Ser Single submitter ⚠
- p.Phe1232Cys Single submitter ⚠
- p.Phe1389Leu Single submitter ⚠
- p.Phe712Ser Single submitter ⚠
- p.Pro110Gln Single submitter ⚠
- p.Pro152Thr Single submitter ⚠
- p.Pro75Leu Single submitter ⚠
- p.Pro998Leu Single submitter ⚠
- p.Ser1001Asn Single submitter ⚠
- p.Ser1024Ala Single submitter ⚠
- p.Ser1157Thr Single submitter ⚠
- p.Ser1244Phe Single submitter ⚠
- p.Ser1485Pro Single submitter ⚠
- p.Ser206Ile Single submitter ⚠
- p.Ser499Leu Single submitter ⚠
- p.Ser499Pro Single submitter ⚠
- p.Ser552Ala Single submitter ⚠
- p.Ser582Pro Single submitter ⚠
- p.Ser702Phe Single submitter ⚠
- p.Ser725Asn Single submitter ⚠
- p.Ser956Arg Single submitter ⚠
- p.Thr1176Ile Single submitter ⚠
- p.Thr163Ile Single submitter ⚠
- p.Thr181Ser Single submitter ⚠
- p.Thr200Ala Single submitter ⚠
- p.Thr204Ser Single submitter ⚠
- p.Thr28Ser Single submitter ⚠
- p.Thr548Ile Single submitter ⚠
- p.Thr682Ile Single submitter ⚠
- p.Thr723Ala Single submitter ⚠
- p.Thr733Ile Single submitter ⚠
- p.Thr83Ser Single submitter ⚠
- p.Trp1403Arg Single submitter ⚠
- p.Trp1448Cys Single submitter ⚠
- p.Trp1461Cys Single submitter ⚠
- p.Tyr1059His Single submitter ⚠
- p.Tyr1173Cys Single submitter ⚠
- p.Tyr1310Cys Single submitter ⚠
- p.Tyr1438Cys Single submitter ⚠
- p.Tyr847Phe Single submitter ⚠
- p.Val1053Leu Single submitter ⚠
- p.Val1155Ile Single submitter ⚠
- p.Val1376Leu Single submitter ⚠
- p.Val401Ala Single submitter ⚠
- p.Val401Gly Single submitter ⚠
- p.Val401Ile Single submitter ⚠
- p.Val43Ile Single submitter ⚠
- p.Val812Ile Single submitter ⚠