ECD — 83 ClinVar variants
All ClinVar germline ECD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →
1 Benign · 6 Likely benign · 76 Uncertain significance
Full ECD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 76
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ECD p.Ala150Thr Uncertain significance Single submitter
- ECD p.Ala234Ser Uncertain significance Single submitter
- ECD p.Ala329Val Uncertain significance Single submitter
- ECD p.Arg188Leu Uncertain significance Single submitter
- ECD p.Arg281Gln Uncertain significance Single submitter
- ECD p.Asn566Ser Uncertain significance Single submitter
- ECD p.Asn61Ser Uncertain significance Single submitter
- ECD p.Asn620Ser Uncertain significance Single submitter
- ECD p.Asp23Glu Uncertain significance Single submitter
- ECD p.Asp576Gly Uncertain significance Single submitter
- ECD p.Cys322Tyr Uncertain significance Single submitter
- ECD p.Glu437Lys Uncertain significance Single submitter
- ECD p.Glu475Lys Uncertain significance Single submitter
- ECD p.Glu514Asp Uncertain significance Single submitter
- ECD p.Gly216Asp Uncertain significance Single submitter
- ECD p.Gly216Ser Uncertain significance Single submitter
- ECD p.His142Arg Uncertain significance Single submitter
- ECD p.His298Arg Uncertain significance Single submitter
- ECD p.His555Asn Uncertain significance Single submitter
- ECD p.Ile181Leu Uncertain significance Single submitter
- ECD p.Ile187Val Uncertain significance Single submitter
- ECD p.Ile241Val Uncertain significance Single submitter
- ECD p.Ile397Thr Uncertain significance Single submitter
- ECD p.Ile397Val Uncertain significance Single submitter
- ECD p.Ile39Thr Uncertain significance Single submitter
- ECD p.Ile461Met Uncertain significance Single submitter
- ECD p.Ile54Val Uncertain significance Single submitter
- ECD p.Leu206Phe Uncertain significance Single submitter
- ECD p.Leu237Pro Uncertain significance Single submitter
- ECD p.Leu378Pro Uncertain significance Single submitter
- ECD p.Leu423Pro Uncertain significance Single submitter
- ECD p.Lys127Glu Uncertain significance Single submitter
- ECD p.Lys434Asn Uncertain significance Single submitter
- ECD p.Met380Val Uncertain significance Single submitter
- ECD p.Met457Thr Uncertain significance Single submitter
- ECD p.Met591Arg Uncertain significance Single submitter
- ECD p.Met591Thr Uncertain significance Single submitter
- ECD p.Pro480Ser Uncertain significance Single submitter
- ECD p.Pro641Ser Uncertain significance Single submitter
- ECD p.Ser134Asn Uncertain significance Single submitter
- ECD p.Thr328Ser Uncertain significance Single submitter
- ECD p.Val78Leu Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- ECD p.Ala121Gly Uncertain significance Single submitter
- ECD p.Ala122Ser Uncertain significance Single submitter
- ECD p.Arg244Gln Uncertain significance Single submitter
- ECD p.Arg281Gly Uncertain significance Single submitter
- ECD p.Arg281Trp Uncertain significance Single submitter
- ECD p.Arg282Gln Uncertain significance Single submitter
- ECD p.Arg282Trp Uncertain significance Single submitter
- ECD p.Arg357Trp Uncertain significance Single submitter
- ECD p.Asn192Thr Uncertain significance Single submitter
- ECD p.Asp396Glu Uncertain significance Single submitter
- ECD p.Asp504Ala Uncertain significance Single submitter
- ECD p.Asp517Asn Uncertain significance Single submitter
- ECD p.Asp540Val Uncertain significance Single submitter
- ECD p.Asp597Glu Uncertain significance Single submitter
- ECD p.Gln274Glu Uncertain significance Single submitter
- ECD p.Gln36Arg Uncertain significance Single submitter
- ECD p.Gln548His Uncertain significance Single submitter
- ECD p.Glu40Lys Uncertain significance Single submitter
- ECD p.Glu429Val Uncertain significance Single submitter
- ECD p.Gly348Arg Uncertain significance Single submitter
- ECD p.Gly352Ala Uncertain significance Single submitter
- ECD p.Ile181Met Uncertain significance Single submitter
- ECD p.Ile604Met Uncertain significance Single submitter
- ECD p.Leu253Phe Uncertain significance Single submitter
- ECD p.Leu600Val Uncertain significance Single submitter
- ECD p.Leu629Met Uncertain significance Single submitter
- ECD p.Lys314Thr Uncertain significance Single submitter
- ECD p.Phe212Cys Uncertain significance Single submitter
- ECD p.Phe212Leu Uncertain significance Single submitter
- ECD p.Pro570Leu Uncertain significance Single submitter
- ECD p.Pro593Arg Uncertain significance Single submitter
- ECD p.Ser381Arg Uncertain significance Single submitter
- ECD p.Ser544Pro Uncertain significance Single submitter
- ECD p.Val596Ala Uncertain significance Single submitter
All ECD variants
Benign 1
- p.Ser440= Single submitter
Likely benign 6
- c.1705-9A>G Single submitter
- p.Ala404= Single submitter
- p.Arg188Gln Single submitter
- p.Gly77= Single submitter
- p.Ser436Pro Single submitter
- p.Thr260= Single submitter
Uncertain significance 76
- p.Ala121Gly Single submitter ⚠
- p.Ala122Ser Single submitter ⚠
- p.Ala150Thr Single submitter ⚠
- p.Ala234Ser Single submitter ⚠
- p.Ala329Val Single submitter ⚠
- p.Arg188Leu Single submitter ⚠
- p.Arg244Gln Single submitter ⚠
- p.Arg281Gln Single submitter ⚠
- p.Arg281Gly Single submitter ⚠
- p.Arg281Trp Single submitter ⚠
- p.Arg282Gln Single submitter ⚠
- p.Arg282Trp Single submitter ⚠
- p.Arg357Trp Single submitter ⚠
- p.Asn192Thr Single submitter ⚠
- p.Asn566Ser Single submitter ⚠
- p.Asn61Ser Single submitter ⚠
- p.Asn620Ser Single submitter ⚠
- p.Asp23Glu Single submitter ⚠
- p.Asp396Glu Single submitter ⚠
- p.Asp504Ala Single submitter ⚠
- p.Asp517Asn Single submitter ⚠
- p.Asp540Val Single submitter ⚠
- p.Asp576Gly Single submitter ⚠
- p.Asp597Glu Single submitter ⚠
- p.Cys322Tyr Single submitter ⚠
- p.Gln274Glu Single submitter ⚠
- p.Gln36Arg Single submitter ⚠
- p.Gln548His Single submitter ⚠
- p.Glu40Lys Single submitter ⚠
- p.Glu429Val Single submitter ⚠
- p.Glu437Lys Single submitter ⚠
- p.Glu475Lys Single submitter ⚠
- p.Glu514Asp Single submitter ⚠
- p.Gly216Asp Single submitter ⚠
- p.Gly216Ser Single submitter ⚠
- p.Gly348Arg Single submitter ⚠
- p.Gly352Ala Single submitter ⚠
- p.His142Arg Single submitter ⚠
- p.His298Arg Single submitter ⚠
- p.His555Asn Single submitter ⚠
- p.Ile181Leu Single submitter ⚠
- p.Ile181Met Single submitter ⚠
- p.Ile187Val Single submitter ⚠
- p.Ile241Val Single submitter ⚠
- p.Ile397Thr Single submitter ⚠
- p.Ile397Val Single submitter ⚠
- p.Ile39Thr Single submitter ⚠
- p.Ile461Met Single submitter ⚠
- p.Ile54Val Single submitter ⚠
- p.Ile604Met Single submitter ⚠
- p.Leu206Phe Single submitter ⚠
- p.Leu237Pro Single submitter ⚠
- p.Leu253Phe Single submitter ⚠
- p.Leu378Pro Single submitter ⚠
- p.Leu423Pro Single submitter ⚠
- p.Leu600Val Single submitter ⚠
- p.Leu629Met Single submitter ⚠
- p.Lys127Glu Single submitter ⚠
- p.Lys314Thr Single submitter ⚠
- p.Lys434Asn Single submitter ⚠
- p.Met380Val Single submitter ⚠
- p.Met457Thr Single submitter ⚠
- p.Met591Arg Single submitter ⚠
- p.Met591Thr Single submitter ⚠
- p.Phe212Cys Single submitter ⚠
- p.Phe212Leu Single submitter ⚠
- p.Pro480Ser Single submitter ⚠
- p.Pro570Leu Single submitter ⚠
- p.Pro593Arg Single submitter ⚠
- p.Pro641Ser Single submitter ⚠
- p.Ser134Asn Single submitter ⚠
- p.Ser381Arg Single submitter ⚠
- p.Ser544Pro Single submitter ⚠
- p.Thr328Ser Single submitter ⚠
- p.Val596Ala Single submitter ⚠
- p.Val78Leu Single submitter ⚠