ECT2 — 91 ClinVar variants

All ClinVar germline ECT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →

1 Benign · 4 Likely benign · 86 Uncertain significance

Full ECT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 86

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 51

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 35

The independent predictors disagree with each other — read with care.

All ECT2 variants

Benign 1

p.Pro481= Multiple submitters

Likely benign 4

p.Gly860Ser Single submitter
p.Ile679Val Single submitter
p.Val154Ile Single submitter
p.Val396Met Single submitter

Uncertain significance 86

p.His912Arg Multiple submitters ⚠
p.Ala258Thr Single submitter ⚠
p.Ala850Thr Single submitter ⚠
p.Arg169Cys Single submitter ⚠
p.Arg194Met Single submitter ⚠
p.Arg228Lys Single submitter ⚠
p.Arg378Cys Single submitter ⚠
p.Arg381His Single submitter ⚠
p.Arg392Gly Single submitter ⚠
p.Arg392Thr Single submitter ⚠
p.Arg402Cys Single submitter ⚠
p.Arg675Gln Single submitter ⚠
p.Arg675Trp Single submitter ⚠
p.Arg789Gln Single submitter ⚠
p.Asn33Asp Single submitter ⚠
p.Asn752Lys Single submitter ⚠
p.Asp305Gly Single submitter ⚠
p.Asp305His Single submitter ⚠
p.Asp521Gly Single submitter ⚠
p.Asp527Asn Single submitter ⚠
p.Asp871Ala Single submitter ⚠
p.Cys750Gly Single submitter ⚠
p.Gln450Pro Single submitter ⚠
p.Gln57Glu Single submitter ⚠
p.Gln650Glu Single submitter ⚠
p.Gln772His Single submitter ⚠
p.Glu252Lys Single submitter ⚠
p.Glu324Asp Single submitter ⚠
p.Glu464Gly Single submitter ⚠
p.Glu625Gly Single submitter ⚠
p.Gly106Cys Single submitter ⚠
p.Gly304Arg Single submitter ⚠
p.Gly712Ser Single submitter ⚠
p.His731Arg Single submitter ⚠
p.Ile237Asn Single submitter ⚠
p.Ile317Val Single submitter ⚠
p.Ile413Val Single submitter ⚠
p.Ile427Val Single submitter ⚠
p.Ile703Leu Single submitter ⚠
p.Ile730Met Single submitter ⚠
p.Leu311Val Single submitter ⚠
p.Leu35Arg Single submitter ⚠
p.Leu522Phe Single submitter ⚠
p.Leu522Val Single submitter ⚠
p.Lys143Glu Single submitter ⚠
p.Lys160Thr Single submitter ⚠
p.Lys267Asn Single submitter ⚠
p.Lys621Glu Single submitter ⚠
p.Lys706Arg Single submitter ⚠
p.Lys817Arg Single submitter ⚠
p.Lys832Asn Single submitter ⚠
p.Lys832Thr Single submitter ⚠
p.Met176Thr Single submitter ⚠
p.Met351Val Single submitter ⚠
p.Met368Val Single submitter ⚠
p.Met46Ile Single submitter ⚠
p.Met46Leu Single submitter ⚠
p.Phe166Cys Single submitter ⚠
p.Phe210Cys Single submitter ⚠
p.Phe266Leu Single submitter ⚠
p.Pro236Ala Single submitter ⚠
p.Pro236Leu Single submitter ⚠
p.Pro240Ala Single submitter ⚠
p.Pro447Ala Single submitter ⚠
p.Pro447Leu Single submitter ⚠
p.Pro548Ser Single submitter ⚠
p.Pro662Ala Single submitter ⚠
p.Ser158Leu Single submitter ⚠
p.Ser451Pro Single submitter ⚠
p.Ser775Pro Single submitter ⚠
p.Ser866Cys Single submitter ⚠
p.Ser883Leu Single submitter ⚠
p.Ser903Arg Single submitter ⚠
p.Thr174Ile Single submitter ⚠
p.Thr27Ile Single submitter ⚠
p.Thr386Ala Single submitter ⚠
p.Thr463Ser Single submitter ⚠
p.Thr762Ile Single submitter ⚠
p.Trp526Gly Single submitter ⚠
p.Tyr330His Single submitter ⚠
p.Tyr429Cys Single submitter ⚠
p.Val108Ile Single submitter ⚠
p.Val113Ala Single submitter ⚠
p.Val366Ala Single submitter ⚠
p.Val590Asp Single submitter ⚠
p.Val767Met Single submitter ⚠