IQCE — 246 ClinVar variants
All ClinVar germline IQCE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →
5 Pathogenic · 3 Likely pathogenic · 4 Conflicting · 40 Benign · 2 Benign/Likely benign · 46 Likely benign · 146 Uncertain significance
Full IQCE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 139
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 108
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- IQCE p.Lys538Arg Uncertain significance Multiple submitters
- IQCE p.Ala361Thr Uncertain significance Single submitter
- IQCE p.Ala396Val Uncertain significance Single submitter
- IQCE p.Ala481Asp Uncertain significance Single submitter
- IQCE p.Ala521Thr Uncertain significance Single submitter
- IQCE p.Ala521Val Uncertain significance Single submitter
- IQCE p.Ala552Gly Uncertain significance Single submitter
- IQCE p.Ala632Asp Uncertain significance Single submitter
- IQCE p.Ala653Ser Uncertain significance Single submitter
- IQCE p.Ala654Thr Uncertain significance Single submitter
- IQCE p.Ala667Thr Uncertain significance Single submitter
- IQCE p.Ala84Thr Uncertain significance Single submitter
- IQCE p.Arg119Lys Uncertain significance Single submitter
- IQCE p.Arg122Lys Uncertain significance Single submitter
- IQCE p.Arg127His Uncertain significance Single submitter
- IQCE p.Arg127Leu Uncertain significance Single submitter
- IQCE p.Arg193His Uncertain significance Single submitter
- IQCE p.Arg286Lys Uncertain significance Single submitter
- IQCE p.Arg299Gln Uncertain significance Single submitter
- IQCE p.Arg338Gln Uncertain significance Single submitter
- IQCE p.Arg386Cys Uncertain significance Single submitter
- IQCE p.Arg392Cys Uncertain significance Single submitter
- IQCE p.Arg511His Uncertain significance Single submitter
- IQCE p.Arg587Cys Uncertain significance Single submitter
- IQCE p.Asn244Ser Uncertain significance Single submitter
- IQCE p.Asn675Asp Uncertain significance Single submitter
- IQCE p.Asp112Glu Uncertain significance Single submitter
- IQCE p.Asp239Asn Uncertain significance Single submitter
- IQCE p.Asp427Asn Uncertain significance Single submitter
- IQCE p.Asp672His Uncertain significance Single submitter
- IQCE p.Cys474Phe Uncertain significance Single submitter
- IQCE p.Gln309Leu Uncertain significance Single submitter
- IQCE p.Gln413His Uncertain significance Single submitter
- IQCE p.Gln454Glu Uncertain significance Single submitter
- IQCE p.Gln581Glu Uncertain significance Single submitter
- IQCE p.Gln91Leu Uncertain significance Single submitter
- IQCE p.Glu270Lys Uncertain significance Single submitter
- IQCE p.Glu279Lys Uncertain significance Single submitter
- IQCE p.Glu313Gly Uncertain significance Single submitter
- IQCE p.Glu391Lys Uncertain significance Single submitter
- IQCE p.Glu452Gln Uncertain significance Single submitter
- IQCE p.Glu462Lys Uncertain significance Single submitter
- IQCE p.Glu495Gly Uncertain significance Single submitter
- IQCE p.Glu495Lys Uncertain significance Single submitter
- IQCE p.Glu504Lys Uncertain significance Single submitter
- IQCE p.Glu7Lys Uncertain significance Single submitter
- IQCE p.Gly273Ala Uncertain significance Single submitter
- IQCE p.Gly283Ala Uncertain significance Single submitter
- IQCE p.Gly291Asp Uncertain significance Single submitter
- IQCE p.Gly438Ser Uncertain significance Single submitter
- IQCE p.Gly82Val Uncertain significance Single submitter
- IQCE p.His158Tyr Uncertain significance Single submitter
- IQCE p.His367Tyr Uncertain significance Single submitter
- IQCE p.His379Tyr Uncertain significance Single submitter
- IQCE p.His479Tyr Uncertain significance Single submitter
- IQCE p.His493Gln Uncertain significance Single submitter
- IQCE p.His535Gln Uncertain significance Single submitter
-
IQCE p.His615Tyr
Uncertain significance
Single submitter
polydactyly, postaxial, type a7
- IQCE p.Leu166Val Uncertain significance Single submitter
- IQCE p.Leu174Val Uncertain significance Single submitter
- IQCE p.Leu265Val Uncertain significance Single submitter
- IQCE p.Lys274Arg Uncertain significance Single submitter
- IQCE p.Lys275Asn Uncertain significance Single submitter
- IQCE p.Lys281Thr Uncertain significance Single submitter
- IQCE p.Lys425Arg Uncertain significance Single submitter
- IQCE p.Lys538Glu Uncertain significance Single submitter
- IQCE p.Lys561Asn Uncertain significance Single submitter
- IQCE p.Lys566Arg Uncertain significance Single submitter
- IQCE p.Met146Thr Uncertain significance Single submitter
- IQCE p.Pro135His Uncertain significance Single submitter
- IQCE p.Pro191Ser Uncertain significance Single submitter
- IQCE p.Pro323Ser Uncertain significance Single submitter
- IQCE p.Pro337Ser Uncertain significance Single submitter
- IQCE p.Pro382Thr Uncertain significance Single submitter
- IQCE p.Pro499Arg Uncertain significance Single submitter
- IQCE p.Pro513Arg Uncertain significance Single submitter
- IQCE p.Pro51Leu Uncertain significance Single submitter
- IQCE p.Pro649Ala Uncertain significance Single submitter
- IQCE p.Pro660Ser Uncertain significance Single submitter
- IQCE p.Pro694Ala Uncertain significance Single submitter
- IQCE p.Pro76Leu Uncertain significance Single submitter
- IQCE p.Ser192Gly Uncertain significance Single submitter
- IQCE p.Ser268Gly Uncertain significance Single submitter
- IQCE p.Ser355Arg Uncertain significance Single submitter
- IQCE p.Ser374Phe Uncertain significance Single submitter
- IQCE p.Ser42Leu Uncertain significance Single submitter
- IQCE p.Ser49Phe Uncertain significance Single submitter
- IQCE p.Ser502Cys Uncertain significance Single submitter
- IQCE p.Ser570Leu Uncertain significance Single submitter
- IQCE p.Ser640Leu Uncertain significance Single submitter
- IQCE p.Ser659Cys Uncertain significance Single submitter
- IQCE p.Thr137Ser Uncertain significance Single submitter
- IQCE p.Thr169Met Uncertain significance Single submitter
- IQCE p.Thr195Met Uncertain significance Single submitter
- IQCE p.Thr242Ala Uncertain significance Single submitter
- IQCE p.Thr28Met Uncertain significance Single submitter
- IQCE p.Thr305Met Uncertain significance Single submitter
- IQCE p.Thr5Ile Uncertain significance Single submitter
- IQCE p.Thr629Ile Uncertain significance Single submitter
- IQCE p.Thr630Ala Uncertain significance Single submitter
- IQCE p.Thr630Pro Uncertain significance Single submitter
- IQCE p.Thr98Ser Uncertain significance Single submitter
- IQCE p.Val106Ile Uncertain significance Single submitter
- IQCE p.Val477Ile Uncertain significance Single submitter
- IQCE p.Val532Gly Uncertain significance Single submitter
- IQCE p.Val600Leu Uncertain significance Single submitter
- IQCE p.Val674Ile Uncertain significance Single submitter
- IQCE p.Val695Gly Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- IQCE p.Ala522Thr Uncertain significance Single submitter
- IQCE p.Ala522Val Uncertain significance Single submitter
- IQCE p.Arg173His Uncertain significance Single submitter
- IQCE p.Arg173Leu Uncertain significance Single submitter
- IQCE p.Arg180Trp Uncertain significance Single submitter
- IQCE p.Arg183Gly Uncertain significance Single submitter
- IQCE p.Arg249Trp Uncertain significance Single submitter
- IQCE p.Arg342Cys Uncertain significance Single submitter
- IQCE p.Arg342Leu Uncertain significance Single submitter
- IQCE p.Arg404Trp Uncertain significance Single submitter
- IQCE p.Arg436Thr Uncertain significance Single submitter
- IQCE p.Arg524Gly Uncertain significance Single submitter
- IQCE p.Arg559Gln Uncertain significance Single submitter
- IQCE p.Arg618Gln Conflicting Single submitter
- IQCE p.Arg618Trp Uncertain significance Single submitter
- IQCE p.Asn178Lys Uncertain significance Single submitter
- IQCE p.Asp677Asn Uncertain significance Single submitter
- IQCE p.Glu144Asp Uncertain significance Single submitter
- IQCE p.Glu176Val Uncertain significance Single submitter
- IQCE p.Glu307Asp Uncertain significance Single submitter
- IQCE p.Glu446Gln Uncertain significance Single submitter
- IQCE p.Gly214Arg Uncertain significance Single submitter
- IQCE p.His535Pro Uncertain significance Single submitter
- IQCE p.Ile233Met Uncertain significance Single submitter
- IQCE p.Ile343Thr Uncertain significance Single submitter
- IQCE p.Phe22Leu Uncertain significance Single submitter
- IQCE p.Ser130Gly Uncertain significance Single submitter
- IQCE p.Ser298Phe Uncertain significance Single submitter
- IQCE p.Val211Asp Uncertain significance Single submitter
- IQCE p.Val259Ala Uncertain significance Single submitter
All IQCE variants
Pathogenic 5
- c.1350_1353del Multiple submitters polydactyly, postaxial, type A1
- p.Cys514fs Single submitter polydactyly, postaxial, type a7
- p.Trp498Ter Single submitter polydactyly, postaxial, type a7
- p.Tyr255Ter Single submitter polydactyly, postaxial, type a7
- c.395-1G>A No assertion criteria polydactyly, postaxial, type a7
Likely pathogenic 3
- p.Ala540fs Single submitter polydactyly, postaxial, type a7
- p.Met1Ile Single submitter polydactyly, postaxial, type a7
- p.Arg394Ter No assertion criteria IQCE-related disorder
Conflicting classifications of pathogenicity 4
- c.572_579+1del Single submitter polydactyly, postaxial, type a7
- p.Arg445Ter Single submitter Inborn genetic diseases
- p.Arg618Gln Single submitter ⚠
- p.Ser234Arg Single submitter ⚠
Benign 40
- c.1609-5dup Single submitter polydactyly, postaxial, type a7
- c.1969+89T>G Single submitter
- c.1970-5T>C Single submitter polydactyly, postaxial, type a7
- c.395-10G>C Single submitter polydactyly, postaxial, type a7
- c.465+11G>A Single submitter polydactyly, postaxial, type a7
- c.774+10G>A Single submitter
- c.774+8G>A Single submitter polydactyly, postaxial, type a7
- c.825-4C>T Single submitter polydactyly, postaxial, type a7
- c.*23C>T Single submitter polydactyly, postaxial, type a7
- p.Ala293= Single submitter
- p.Ala546Val Single submitter polydactyly, postaxial, type a7
- p.Arg317Cys Single submitter
- p.Arg392His Single submitter
- p.Arg511= Single submitter
- p.Arg511Cys Single submitter
- p.Arg587His Single submitter polydactyly, postaxial, type a7
- p.Arg635Lys Single submitter polydactyly, postaxial, type a7
- p.Arg71Gln Single submitter polydactyly, postaxial, type a7
- p.Cys371Arg Single submitter
- p.Gly108= Single submitter
- p.Gly569= Single submitter
- p.His101Asn Single submitter
- p.Leu114= Single submitter
- p.Leu262= Single submitter
- p.Leu666Val Single submitter polydactyly, postaxial, type a7
- p.Lys388= Single submitter
- p.Pro135= Single submitter polydactyly, postaxial, type a7
- p.Ser638Trp Single submitter
- p.Ser659= Single submitter
- p.Ser679= Single submitter
- p.Thr104= Single submitter polydactyly, postaxial, type a7
- p.Thr272= Single submitter
- p.Thr455= Single submitter
- p.Thr596Ala Single submitter polydactyly, postaxial, type a7
- p.Thr690Met Single submitter polydactyly, postaxial, type a7
- p.Val575= Single submitter polydactyly, postaxial, type a7
- c.1969+146G>A No assertion criteria IQCE-related disorder
- p.Arg341Lys No assertion criteria IQCE-related disorder
- p.Leu411= No assertion criteria IQCE-related disorder
- p.Pro686Leu No assertion criteria IQCE-related disorder
Likely benign 46
- p.Ala102= Multiple submitters
- p.Pro586Ser Multiple submitters
- c.1244+10C>A Single submitter
- c.1244+20C>T Single submitter
- c.131-17C>T Single submitter
- c.1440+10C>T Single submitter
- c.1609-6_1609-5dup Single submitter
- c.1633-11T>C Single submitter
- c.1743+8C>T Single submitter
- c.1866-20C>T Single submitter
- c.1866-5dup Single submitter
- c.259+4T>C Single submitter
- p.Ala593Val Single submitter
- p.Ala611Val Single submitter
- p.Arg383Leu Single submitter
- p.Asp673= Single submitter
- p.Gly108Ser Single submitter
- p.Gly109Ser Single submitter
- p.Gly283= Single submitter
- p.Gly438= Single submitter
- p.Gly644Arg Single submitter
- p.Gly69Ser Single submitter
- p.Ile607Val Single submitter
- p.Leu400= Single submitter
- p.Leu563Ser Single submitter
- p.Leu578Pro Single submitter
- p.Lys468Arg Single submitter
- p.Pro475= Single submitter
- p.Pro508Leu Single submitter
- p.Pro51= Single submitter
- p.Pro513= Single submitter
- p.Pro658Ser Single submitter
- p.Ser234= Single submitter
- p.Thr282Met Single submitter
- p.Thr305= Single submitter
- p.Thr405= Single submitter
- p.Thr624= Single submitter
- p.Thr83= Single submitter
- p.Tyr256= Single submitter
- p.Val575Met Single submitter
- c.-2C>T No assertion criteria IQCE-related disorder
- p.Ala208= No assertion criteria IQCE-related disorder
- p.Ala545= No assertion criteria IQCE-related disorder
- p.Asp230= No assertion criteria IQCE-related disorder
- p.Leu393= No assertion criteria IQCE-related disorder
- p.Val547= No assertion criteria IQCE-related disorder
Uncertain significance 146
- p.Lys538Arg Multiple submitters ⚠
- c.1440+1G>T Single submitter
- c.1969+117dup Single submitter polydactyly, postaxial, type a7
- c.825-2A>G Single submitter polydactyly, postaxial, type a7
- c.825-8T>G Single submitter
- p.Ala361Thr Single submitter ⚠
- p.Ala396Val Single submitter ⚠
- p.Ala481Asp Single submitter ⚠
- p.Ala521Thr Single submitter ⚠
- p.Ala521Val Single submitter ⚠
- p.Ala522Thr Single submitter ⚠
- p.Ala522Val Single submitter ⚠
- p.Ala552Gly Single submitter ⚠
- p.Ala632Asp Single submitter ⚠
- p.Ala653Ser Single submitter ⚠
- p.Ala654Thr Single submitter ⚠
- p.Ala667Thr Single submitter ⚠
- p.Ala84Thr Single submitter ⚠
- p.Arg119Lys Single submitter ⚠
- p.Arg122Lys Single submitter ⚠
- p.Arg127His Single submitter ⚠
- p.Arg127Leu Single submitter ⚠
- p.Arg173His Single submitter ⚠
- p.Arg173Leu Single submitter ⚠
- p.Arg180Trp Single submitter ⚠
- p.Arg183Gly Single submitter ⚠
- p.Arg193His Single submitter ⚠
- p.Arg249Trp Single submitter ⚠
- p.Arg286Lys Single submitter ⚠
- p.Arg299Gln Single submitter ⚠
- p.Arg338Gln Single submitter ⚠
- p.Arg342Cys Single submitter ⚠
- p.Arg342Leu Single submitter ⚠
- p.Arg386Cys Single submitter ⚠
- p.Arg392Cys Single submitter ⚠
- p.Arg404Trp Single submitter ⚠
- p.Arg436Thr Single submitter ⚠
- p.Arg511His Single submitter ⚠
- p.Arg524Gly Single submitter ⚠
- p.Arg559Gln Single submitter ⚠
- p.Arg559Trp Single submitter
- p.Arg587Cys Single submitter ⚠
- p.Arg618Trp Single submitter ⚠
- p.Asn178Lys Single submitter ⚠
- p.Asn244Ser Single submitter ⚠
- p.Asn675Asp Single submitter ⚠
- p.Asp112Glu Single submitter ⚠
- p.Asp239Asn Single submitter ⚠
- p.Asp427Asn Single submitter ⚠
- p.Asp672His Single submitter ⚠
- p.Asp677Asn Single submitter ⚠
- p.Asp681fs Single submitter
- p.Cys474Phe Single submitter ⚠
- p.Gln309Leu Single submitter ⚠
- p.Gln413His Single submitter ⚠
- p.Gln454Glu Single submitter ⚠
- p.Gln550Arg Single submitter
- p.Gln581Glu Single submitter ⚠
- p.Gln91Leu Single submitter ⚠
- p.Glu144Asp Single submitter ⚠
- p.Glu176Val Single submitter ⚠
- p.Glu270Lys Single submitter ⚠
- p.Glu279Lys Single submitter ⚠
- p.Glu307Asp Single submitter ⚠
- p.Glu313Gly Single submitter ⚠
- p.Glu391Lys Single submitter ⚠
- p.Glu446Gln Single submitter ⚠
- p.Glu452Gln Single submitter ⚠
- p.Glu462Lys Single submitter ⚠
- p.Glu495Gly Single submitter ⚠
- p.Glu495Lys Single submitter ⚠
- p.Glu504Lys Single submitter ⚠
- p.Glu7Lys Single submitter ⚠
- p.Gly214Arg Single submitter ⚠
- p.Gly273Ala Single submitter ⚠
- p.Gly283Ala Single submitter ⚠
- p.Gly291Asp Single submitter ⚠
- p.Gly438Ser Single submitter ⚠
- p.Gly82Val Single submitter ⚠
- p.His158Tyr Single submitter ⚠
- p.His367Tyr Single submitter ⚠
- p.His379Tyr Single submitter ⚠
- p.His479Tyr Single submitter ⚠
- p.His493Gln Single submitter ⚠
- p.His535Gln Single submitter ⚠
- p.His535Pro Single submitter ⚠
- p.His615Tyr Single submitter polydactyly, postaxial, type a7 ⚠
- p.Ile233Met Single submitter ⚠
- p.Ile343Thr Single submitter ⚠
- p.Leu166Val Single submitter ⚠
- p.Leu174Val Single submitter ⚠
- p.Leu265Val Single submitter ⚠
- p.Lys274Arg Single submitter ⚠
- p.Lys275Asn Single submitter ⚠
- p.Lys281Thr Single submitter ⚠
- p.Lys425Arg Single submitter ⚠
- p.Lys538Glu Single submitter ⚠
- p.Lys561Asn Single submitter ⚠
- p.Lys566Arg Single submitter ⚠
- p.Met146Thr Single submitter ⚠
- p.Phe22Leu Single submitter ⚠
- p.Pro135His Single submitter ⚠
- p.Pro191Ser Single submitter ⚠
- p.Pro323Ser Single submitter ⚠
- p.Pro337Ser Single submitter ⚠
- p.Pro382Thr Single submitter ⚠
- p.Pro499Arg Single submitter ⚠
- p.Pro513Arg Single submitter ⚠
- p.Pro51Leu Single submitter ⚠
- p.Pro649Ala Single submitter ⚠
- p.Pro660Ser Single submitter ⚠
- p.Pro694Ala Single submitter ⚠
- p.Pro76Leu Single submitter ⚠
- p.Ser130Gly Single submitter ⚠
- p.Ser192Gly Single submitter ⚠
- p.Ser268Gly Single submitter ⚠
- p.Ser298Phe Single submitter ⚠
- p.Ser355Arg Single submitter ⚠
- p.Ser374Phe Single submitter ⚠
- p.Ser42Leu Single submitter ⚠
- p.Ser49Phe Single submitter ⚠
- p.Ser502Cys Single submitter ⚠
- p.Ser570Leu Single submitter ⚠
- p.Ser640Leu Single submitter ⚠
- p.Ser659Cys Single submitter ⚠
- p.Thr137Ser Single submitter ⚠
- p.Thr169Met Single submitter ⚠
- p.Thr195Met Single submitter ⚠
- p.Thr242Ala Single submitter ⚠
- p.Thr28Met Single submitter ⚠
- p.Thr305Met Single submitter ⚠
- p.Thr5Ile Single submitter ⚠
- p.Thr629Ile Single submitter ⚠
- p.Thr630Ala Single submitter ⚠
- p.Thr630Pro Single submitter ⚠
- p.Thr98Ser Single submitter ⚠
- p.Val106Ile Single submitter ⚠
- p.Val211Asp Single submitter ⚠
- p.Val259Ala Single submitter ⚠
- p.Val301fs Single submitter
- p.Val477Ile Single submitter ⚠
- p.Val532Gly Single submitter ⚠
- p.Val600Leu Single submitter ⚠
- p.Val674Ile Single submitter ⚠
- p.Val695Gly Single submitter ⚠
- p.Lys289Ter No assertion criteria IQCE-related disorder