ECM2 — 100 ClinVar variants
All ClinVar germline ECM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
5 Likely benign · 95 Uncertain significance
Full ECM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
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 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ECM2 p.Ala428Val Uncertain significance Single submitter
- ECM2 p.Arg259Lys Uncertain significance Single submitter
- ECM2 p.Arg315His Uncertain significance Single submitter
- ECM2 p.Arg315Leu Uncertain significance Single submitter
- ECM2 p.Arg397Ser Uncertain significance Single submitter
- ECM2 p.Arg470Ser Uncertain significance Single submitter
- ECM2 p.Arg48Ser Uncertain significance Single submitter
- ECM2 p.Arg600His Uncertain significance Single submitter
- ECM2 p.Arg644Trp Uncertain significance Single submitter
- ECM2 p.Asn22Thr Uncertain significance Single submitter
- ECM2 p.Asn653Ser Uncertain significance Single submitter
- ECM2 p.Asp173Glu Uncertain significance Single submitter
- ECM2 p.Asp430Asn Uncertain significance Single submitter
- ECM2 p.Asp430Gly Uncertain significance Single submitter
- ECM2 p.Asp541Glu Uncertain significance Single submitter
- ECM2 p.Asp595Glu Uncertain significance Single submitter
- ECM2 p.Cys684Tyr Uncertain significance Single submitter
- ECM2 p.Gln194Glu Uncertain significance Single submitter
- ECM2 p.Gln628Lys Uncertain significance Single submitter
- ECM2 p.Glu209Val Uncertain significance Single submitter
- ECM2 p.Glu256Lys Uncertain significance Single submitter
- ECM2 p.Glu256Val Uncertain significance Single submitter
- ECM2 p.Glu612Gly Uncertain significance Single submitter
- ECM2 p.Glu81Asp Uncertain significance Single submitter
- ECM2 p.His35Arg Uncertain significance Single submitter
- ECM2 p.His47Arg Uncertain significance Single submitter
- ECM2 p.His507Gln Uncertain significance Single submitter
- ECM2 p.His549Gln Uncertain significance Single submitter
- ECM2 p.Ile406Thr Uncertain significance Single submitter
- ECM2 p.Ile511Thr Uncertain significance Single submitter
- ECM2 p.Ile526Thr Uncertain significance Single submitter
- ECM2 p.Ile677Thr Uncertain significance Single submitter
- ECM2 p.Leu166Phe Uncertain significance Single submitter
- ECM2 p.Leu306Val Uncertain significance Single submitter
- ECM2 p.Leu372Pro Uncertain significance Single submitter
- ECM2 p.Leu466Pro Uncertain significance Single submitter
- ECM2 p.Leu471Pro Uncertain significance Single submitter
- ECM2 p.Leu586Trp Uncertain significance Single submitter
- ECM2 p.Leu633Arg Uncertain significance Single submitter
- ECM2 p.Lys208Arg Uncertain significance Single submitter
- ECM2 p.Lys475Gln Uncertain significance Single submitter
- ECM2 p.Met297Ile Uncertain significance Single submitter
- ECM2 p.Met396Leu Uncertain significance Single submitter
- ECM2 p.Phe682Leu Uncertain significance Single submitter
- ECM2 p.Phe80Ser Uncertain significance Single submitter
- ECM2 p.Pro187Arg Uncertain significance Single submitter
- ECM2 p.Pro187His Uncertain significance Single submitter
- ECM2 p.Pro196Ser Uncertain significance Single submitter
- ECM2 p.Pro197Thr Uncertain significance Single submitter
- ECM2 p.Pro339Leu Uncertain significance Single submitter
- ECM2 p.Pro359Thr Uncertain significance Single submitter
- ECM2 p.Pro480Leu Uncertain significance Single submitter
- ECM2 p.Pro551Leu Uncertain significance Single submitter
- ECM2 p.Pro625Leu Uncertain significance Single submitter
- ECM2 p.Pro87Ser Uncertain significance Single submitter
- ECM2 p.Ser302Thr Uncertain significance Single submitter
- ECM2 p.Ser318Arg Uncertain significance Single submitter
- ECM2 p.Ser41Ile Uncertain significance Single submitter
- ECM2 p.Ser49Thr Uncertain significance Single submitter
- ECM2 p.Ser543Pro Uncertain significance Single submitter
- ECM2 p.Tyr548Cys Uncertain significance Single submitter
- ECM2 p.Tyr604Cys Uncertain significance Single submitter
- ECM2 p.Val293Ile Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- ECM2 p.Arg266Cys Uncertain significance Single submitter
- ECM2 p.Arg470Cys Uncertain significance Single submitter
- ECM2 p.Arg570Trp Uncertain significance Single submitter
- ECM2 p.Arg600Cys Uncertain significance Single submitter
- ECM2 p.Asp274His Uncertain significance Single submitter
- ECM2 p.Glu222Lys Uncertain significance Single submitter
- ECM2 p.Glu273Gly Uncertain significance Single submitter
- ECM2 p.Glu278Lys Uncertain significance Single submitter
- ECM2 p.Glu289Gln Uncertain significance Single submitter
- ECM2 p.Glu289Lys Uncertain significance Single submitter
- ECM2 p.Ile384Thr Uncertain significance Single submitter
- ECM2 p.Ile487Thr Uncertain significance Single submitter
- ECM2 p.Ile571Leu Uncertain significance Single submitter
- ECM2 p.Ile643Met Uncertain significance Single submitter
- ECM2 p.Ile685Leu Uncertain significance Single submitter
- ECM2 p.Leu458Val Uncertain significance Single submitter
- ECM2 p.Lys520Arg Uncertain significance Single submitter
- ECM2 p.Met110Thr Uncertain significance Single submitter
- ECM2 p.Pro386Leu Uncertain significance Single submitter
- ECM2 p.Ser354Pro Uncertain significance Single submitter
- ECM2 p.Ser382Leu Uncertain significance Single submitter
- ECM2 p.Ser433Arg Uncertain significance Single submitter
- ECM2 p.Ser465Ile Uncertain significance Single submitter
- ECM2 p.Ser679Phe Uncertain significance Single submitter
- ECM2 p.Thr123Ile Uncertain significance Single submitter
- ECM2 p.Thr501Ile Uncertain significance Single submitter
- ECM2 p.Thr62Ile Uncertain significance Single submitter
- ECM2 p.Val105Ile Uncertain significance Single submitter
- ECM2 p.Val147Leu Uncertain significance Single submitter
- ECM2 p.Val156Ile Uncertain significance Single submitter
- ECM2 p.Val156Leu Uncertain significance Single submitter
- ECM2 p.Val455Ala Uncertain significance Single submitter
All ECM2 variants
Likely benign 5
- p.Ala356Thr Single submitter
- p.Gly237Arg Single submitter
- p.Ile69Val Single submitter
- p.Leu67Phe Single submitter
- p.Ser233Pro Single submitter
Uncertain significance 95
- p.Ala428Val Single submitter ⚠
- p.Arg259Lys Single submitter ⚠
- p.Arg266Cys Single submitter ⚠
- p.Arg315His Single submitter ⚠
- p.Arg315Leu Single submitter ⚠
- p.Arg397Ser Single submitter ⚠
- p.Arg470Cys Single submitter ⚠
- p.Arg470Ser Single submitter ⚠
- p.Arg48Ser Single submitter ⚠
- p.Arg570Trp Single submitter ⚠
- p.Arg600Cys Single submitter ⚠
- p.Arg600His Single submitter ⚠
- p.Arg644Trp Single submitter ⚠
- p.Asn22Thr Single submitter ⚠
- p.Asn653Ser Single submitter ⚠
- p.Asp173Glu Single submitter ⚠
- p.Asp274His Single submitter ⚠
- p.Asp430Asn Single submitter ⚠
- p.Asp430Gly Single submitter ⚠
- p.Asp541Glu Single submitter ⚠
- p.Asp595Glu Single submitter ⚠
- p.Cys684Tyr Single submitter ⚠
- p.Gln194Glu Single submitter ⚠
- p.Gln628Lys Single submitter ⚠
- p.Glu209Val Single submitter ⚠
- p.Glu222Lys Single submitter ⚠
- p.Glu256Lys Single submitter ⚠
- p.Glu256Val Single submitter ⚠
- p.Glu273Gly Single submitter ⚠
- p.Glu278Lys Single submitter ⚠
- p.Glu289Gln Single submitter ⚠
- p.Glu289Lys Single submitter ⚠
- p.Glu612Gly Single submitter ⚠
- p.Glu81Asp Single submitter ⚠
- p.His35Arg Single submitter ⚠
- p.His47Arg Single submitter ⚠
- p.His507Gln Single submitter ⚠
- p.His549Gln Single submitter ⚠
- p.Ile384Thr Single submitter ⚠
- p.Ile406Thr Single submitter ⚠
- p.Ile487Thr Single submitter ⚠
- p.Ile511Thr Single submitter ⚠
- p.Ile526Thr Single submitter ⚠
- p.Ile571Leu Single submitter ⚠
- p.Ile643Met Single submitter ⚠
- p.Ile677Thr Single submitter ⚠
- p.Ile685Leu Single submitter ⚠
- p.Leu166Phe Single submitter ⚠
- p.Leu306Val Single submitter ⚠
- p.Leu372Pro Single submitter ⚠
- p.Leu458Val Single submitter ⚠
- p.Leu466Pro Single submitter ⚠
- p.Leu471Pro Single submitter ⚠
- p.Leu586Trp Single submitter ⚠
- p.Leu633Arg Single submitter ⚠
- p.Lys208Arg Single submitter ⚠
- p.Lys475Gln Single submitter ⚠
- p.Lys520Arg Single submitter ⚠
- p.Met110Thr Single submitter ⚠
- p.Met297Ile Single submitter ⚠
- p.Met396Leu Single submitter ⚠
- p.Phe682Leu Single submitter ⚠
- p.Phe80Ser Single submitter ⚠
- p.Pro187Arg Single submitter ⚠
- p.Pro187His Single submitter ⚠
- p.Pro196Ser Single submitter ⚠
- p.Pro197Thr Single submitter ⚠
- p.Pro339Leu Single submitter ⚠
- p.Pro359Thr Single submitter ⚠
- p.Pro386Leu Single submitter ⚠
- p.Pro480Leu Single submitter ⚠
- p.Pro551Leu Single submitter ⚠
- p.Pro625Leu Single submitter ⚠
- p.Pro87Ser Single submitter ⚠
- p.Ser302Thr Single submitter ⚠
- p.Ser318Arg Single submitter ⚠
- p.Ser354Pro Single submitter ⚠
- p.Ser382Leu Single submitter ⚠
- p.Ser41Ile Single submitter ⚠
- p.Ser433Arg Single submitter ⚠
- p.Ser465Ile Single submitter ⚠
- p.Ser49Thr Single submitter ⚠
- p.Ser543Pro Single submitter ⚠
- p.Ser679Phe Single submitter ⚠
- p.Thr123Ile Single submitter ⚠
- p.Thr501Ile Single submitter ⚠
- p.Thr62Ile Single submitter ⚠
- p.Tyr548Cys Single submitter ⚠
- p.Tyr604Cys Single submitter ⚠
- p.Val105Ile Single submitter ⚠
- p.Val147Leu Single submitter ⚠
- p.Val156Ile Single submitter ⚠
- p.Val156Leu Single submitter ⚠
- p.Val293Ile Single submitter ⚠
- p.Val455Ala Single submitter ⚠