ECT2L — 117 ClinVar variants
All ClinVar germline ECT2L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →
7 Likely benign · 110 Uncertain significance
Full ECT2L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 111
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 69
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ECT2L p.Ala147Thr Uncertain significance Single submitter
- ECT2L p.Ala161Thr Uncertain significance Single submitter
- ECT2L p.Ala299Val Uncertain significance Single submitter
- ECT2L p.Ala401Ser Uncertain significance Single submitter
- ECT2L p.Ala443Ser Uncertain significance Single submitter
- ECT2L p.Ala880Thr Uncertain significance Single submitter
- ECT2L p.Arg205Gln Uncertain significance Single submitter
- ECT2L p.Arg225Cys Uncertain significance Single submitter
- ECT2L p.Arg231Ser Uncertain significance Single submitter
- ECT2L p.Arg296Gln Uncertain significance Single submitter
- ECT2L p.Arg296Pro Uncertain significance Single submitter
- ECT2L p.Arg371Ser Uncertain significance Single submitter
- ECT2L p.Arg528Gly Uncertain significance Single submitter
- ECT2L p.Arg528Lys Uncertain significance Single submitter
- ECT2L p.Arg634Thr Uncertain significance Single submitter
- ECT2L p.Arg734Cys Uncertain significance Single submitter
- ECT2L p.Arg734His Uncertain significance Single submitter
- ECT2L p.Asn271Ser Uncertain significance Single submitter
- ECT2L p.Asn503Ser Uncertain significance Single submitter
- ECT2L p.Asn545Ser Uncertain significance Single submitter
- ECT2L p.Asp279Tyr Uncertain significance Single submitter
- ECT2L p.Asp280Glu Uncertain significance Single submitter
- ECT2L p.Asp562Asn Uncertain significance Single submitter
- ECT2L p.Asp635Asn Uncertain significance Single submitter
- ECT2L p.Cys796Gly Uncertain significance Single submitter
- ECT2L p.Gln339Glu Uncertain significance Single submitter
- ECT2L p.Gln455Arg Uncertain significance Single submitter
- ECT2L p.Gln753Glu Uncertain significance Single submitter
- ECT2L p.Glu305Lys Uncertain significance Single submitter
- ECT2L p.Glu451Lys Uncertain significance Single submitter
- ECT2L p.Glu532Gln Uncertain significance Single submitter
- ECT2L p.Glu556Asp Uncertain significance Single submitter
- ECT2L p.Glu714Gln Uncertain significance Single submitter
- ECT2L p.Glu884Gln Uncertain significance Single submitter
- ECT2L p.Gly402Val Uncertain significance Single submitter
- ECT2L p.Gly437Arg Uncertain significance Single submitter
- ECT2L p.Gly872Cys Uncertain significance Single submitter
- ECT2L p.His151Arg Uncertain significance Single submitter
- ECT2L p.His237Gln Uncertain significance Single submitter
- ECT2L p.His430Pro Uncertain significance Single submitter
- ECT2L p.His851Arg Uncertain significance Single submitter
- ECT2L p.Ile587Thr Uncertain significance Single submitter
- ECT2L p.Leu249Ser Uncertain significance Single submitter
- ECT2L p.Leu671Val Uncertain significance Single submitter
- ECT2L p.Leu870Ile Uncertain significance Single submitter
- ECT2L p.Leu87Pro Uncertain significance Single submitter
- ECT2L p.Leu894His Uncertain significance Single submitter
- ECT2L p.Lys171Arg Uncertain significance Single submitter
- ECT2L p.Lys17Arg Uncertain significance Single submitter
- ECT2L p.Lys862Asn Uncertain significance Single submitter
- ECT2L p.Met302Thr Uncertain significance Single submitter
- ECT2L p.Met519Thr Uncertain significance Single submitter
- ECT2L p.Met902Thr Uncertain significance Single submitter
- ECT2L p.Phe128Leu Uncertain significance Single submitter
- ECT2L p.Phe494Leu Uncertain significance Single submitter
- ECT2L p.Phe816Leu Uncertain significance Single submitter
- ECT2L p.Ser256Arg Uncertain significance Single submitter
- ECT2L p.Ser294Pro Uncertain significance Single submitter
- ECT2L p.Ser487Asn Uncertain significance Single submitter
- ECT2L p.Ser78Cys Uncertain significance Single submitter
- ECT2L p.Thr456Met Uncertain significance Single submitter
- ECT2L p.Thr651Ala Uncertain significance Single submitter
- ECT2L p.Thr686Asn Uncertain significance Single submitter
- ECT2L p.Thr837Pro Uncertain significance Single submitter
- ECT2L p.Tyr327His Uncertain significance Single submitter
- ECT2L p.Tyr721His Uncertain significance Single submitter
- ECT2L p.Tyr783His Uncertain significance Single submitter
- ECT2L p.Val696Ala Uncertain significance Single submitter
- ECT2L p.Val893Ala Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
- ECT2L p.Ala515Gly Uncertain significance Single submitter
- ECT2L p.Ala599Thr Uncertain significance Single submitter
- ECT2L p.Ala605Gly Uncertain significance Single submitter
- ECT2L p.Ala643Pro Uncertain significance Single submitter
- ECT2L p.Ala722Val Uncertain significance Single submitter
- ECT2L p.Arg143His Likely benign Single submitter
- ECT2L p.Arg287Trp Uncertain significance Single submitter
- ECT2L p.Arg827Gln Uncertain significance Single submitter
- ECT2L p.Asn507His Uncertain significance Single submitter
- ECT2L p.Asn666Ser Uncertain significance Single submitter
- ECT2L p.Asp692Asn Uncertain significance Single submitter
- ECT2L p.Cys645Phe Uncertain significance Single submitter
- ECT2L p.Gln613Arg Uncertain significance Single submitter
- ECT2L p.Glu730Gln Uncertain significance Single submitter
- ECT2L p.Glu856Lys Uncertain significance Single submitter
- ECT2L p.Gly387Trp Uncertain significance Single submitter
- ECT2L p.Gly422Glu Uncertain significance Single submitter
- ECT2L p.His691Gln Uncertain significance Single submitter
- ECT2L p.Ile329Thr Uncertain significance Single submitter
- ECT2L p.Ile649Thr Uncertain significance Single submitter
- ECT2L p.Ile741Thr Uncertain significance Single submitter
- ECT2L p.Ile751Thr Uncertain significance Single submitter
- ECT2L p.Ile771Thr Uncertain significance Single submitter
- ECT2L p.Leu292Phe Uncertain significance Single submitter
- ECT2L p.Leu328Phe Uncertain significance Single submitter
- ECT2L p.Leu396Phe Uncertain significance Single submitter
- ECT2L p.Leu47Phe Uncertain significance Single submitter
- ECT2L p.Lys337Thr Uncertain significance Single submitter
- ECT2L p.Phe392Ser Uncertain significance Single submitter
- ECT2L p.Phe713Cys Uncertain significance Single submitter
- ECT2L p.Pro133Ser Uncertain significance Single submitter
- ECT2L p.Pro668Arg Uncertain significance Single submitter
- ECT2L p.Ser18Pro Uncertain significance Single submitter
- ECT2L p.Ser216Asn Uncertain significance Single submitter
- ECT2L p.Ser248Leu Uncertain significance Single submitter
- ECT2L p.Ser438Phe Uncertain significance Single submitter
- ECT2L p.Ser438Tyr Uncertain significance Single submitter
- ECT2L p.Thr415Met Uncertain significance Single submitter
- ECT2L p.Thr661Pro Uncertain significance Single submitter
- ECT2L p.Tyr448Cys Uncertain significance Single submitter
- ECT2L p.Tyr88Cys Uncertain significance Single submitter
- ECT2L p.Val314Ala Uncertain significance Single submitter
All ECT2L variants
Likely benign 7
- p.Arg143His Single submitter ⚠
- p.Ile403Thr Single submitter
- p.Ser216Arg Single submitter
- p.Tyr875His Single submitter
- p.Val123Ile Single submitter
- p.Val570Ala Single submitter
- p.Val824Ile Single submitter
Uncertain significance 110
- p.Ala147Thr Single submitter ⚠
- p.Ala161Thr Single submitter ⚠
- p.Ala299Val Single submitter ⚠
- p.Ala401Ser Single submitter ⚠
- p.Ala443Ser Single submitter ⚠
- p.Ala515Gly Single submitter ⚠
- p.Ala599Thr Single submitter ⚠
- p.Ala605Gly Single submitter ⚠
- p.Ala643Pro Single submitter ⚠
- p.Ala722Val Single submitter ⚠
- p.Ala880Thr Single submitter ⚠
- p.Arg205Gln Single submitter ⚠
- p.Arg225Cys Single submitter ⚠
- p.Arg231Ser Single submitter ⚠
- p.Arg287Trp Single submitter ⚠
- p.Arg296Gln Single submitter ⚠
- p.Arg296Pro Single submitter ⚠
- p.Arg371Ser Single submitter ⚠
- p.Arg528Gly Single submitter ⚠
- p.Arg528Lys Single submitter ⚠
- p.Arg634Thr Single submitter ⚠
- p.Arg734Cys Single submitter ⚠
- p.Arg734His Single submitter ⚠
- p.Arg827Gln Single submitter ⚠
- p.Asn271Ser Single submitter ⚠
- p.Asn503Ser Single submitter ⚠
- p.Asn507His Single submitter ⚠
- p.Asn545Ser Single submitter ⚠
- p.Asn666Ser Single submitter ⚠
- p.Asp279Tyr Single submitter ⚠
- p.Asp280Glu Single submitter ⚠
- p.Asp562Asn Single submitter ⚠
- p.Asp635Asn Single submitter ⚠
- p.Asp692Asn Single submitter ⚠
- p.Cys645Phe Single submitter ⚠
- p.Cys796Gly Single submitter ⚠
- p.Gln339Glu Single submitter ⚠
- p.Gln455Arg Single submitter ⚠
- p.Gln613Arg Single submitter ⚠
- p.Gln753Glu Single submitter ⚠
- p.Glu305Lys Single submitter ⚠
- p.Glu451Lys Single submitter ⚠
- p.Glu532Gln Single submitter ⚠
- p.Glu556Asp Single submitter ⚠
- p.Glu714Gln Single submitter ⚠
- p.Glu730Gln Single submitter ⚠
- p.Glu856Lys Single submitter ⚠
- p.Glu884Gln Single submitter ⚠
- p.Gly387Trp Single submitter ⚠
- p.Gly402Val Single submitter ⚠
- p.Gly422Glu Single submitter ⚠
- p.Gly437Arg Single submitter ⚠
- p.Gly872Cys Single submitter ⚠
- p.His151Arg Single submitter ⚠
- p.His237Gln Single submitter ⚠
- p.His430Pro Single submitter ⚠
- p.His691Gln Single submitter ⚠
- p.His851Arg Single submitter ⚠
- p.Ile329Thr Single submitter ⚠
- p.Ile587Thr Single submitter ⚠
- p.Ile649Thr Single submitter ⚠
- p.Ile741Thr Single submitter ⚠
- p.Ile751Thr Single submitter ⚠
- p.Ile771Thr Single submitter ⚠
- p.Leu249Ser Single submitter ⚠
- p.Leu292Phe Single submitter ⚠
- p.Leu328Phe Single submitter ⚠
- p.Leu396Phe Single submitter ⚠
- p.Leu47Phe Single submitter ⚠
- p.Leu671Val Single submitter ⚠
- p.Leu870Ile Single submitter ⚠
- p.Leu87Pro Single submitter ⚠
- p.Leu894His Single submitter ⚠
- p.Lys171Arg Single submitter ⚠
- p.Lys17Arg Single submitter ⚠
- p.Lys337Thr Single submitter ⚠
- p.Lys862Asn Single submitter ⚠
- p.Met302Thr Single submitter ⚠
- p.Met519Thr Single submitter ⚠
- p.Met902Thr Single submitter ⚠
- p.Phe128Leu Single submitter ⚠
- p.Phe392Ser Single submitter ⚠
- p.Phe494Leu Single submitter ⚠
- p.Phe713Cys Single submitter ⚠
- p.Phe816Leu Single submitter ⚠
- p.Pro133Ser Single submitter ⚠
- p.Pro668Arg Single submitter ⚠
- p.Ser18Pro Single submitter ⚠
- p.Ser216Asn Single submitter ⚠
- p.Ser248Leu Single submitter ⚠
- p.Ser256Arg Single submitter ⚠
- p.Ser294Pro Single submitter ⚠
- p.Ser438Phe Single submitter ⚠
- p.Ser438Tyr Single submitter ⚠
- p.Ser487Asn Single submitter ⚠
- p.Ser78Cys Single submitter ⚠
- p.Thr415Met Single submitter ⚠
- p.Thr456Met Single submitter ⚠
- p.Thr651Ala Single submitter ⚠
- p.Thr661Pro Single submitter ⚠
- p.Thr686Asn Single submitter ⚠
- p.Thr837Pro Single submitter ⚠
- p.Tyr327His Single submitter ⚠
- p.Tyr448Cys Single submitter ⚠
- p.Tyr721His Single submitter ⚠
- p.Tyr783His Single submitter ⚠
- p.Tyr88Cys Single submitter ⚠
- p.Val314Ala Single submitter ⚠
- p.Val696Ala Single submitter ⚠
- p.Val893Ala Single submitter ⚠